Mercurial > repos > elixir-it > vinyl_optimizer
view old_version/test_DCM.vcf @ 2:6e4eb4856874 draft
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| author | elixir-it |
|---|---|
| date | Wed, 22 Jul 2020 19:20:30 +0000 |
| parents | |
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1 3102754 . G A 200.00 . #_unique_end_positions=,42;#_unique_start_positions=,39;AC=1;AN=1;Amino_acid_change=,NP_955533.2:p.Glu35Lys|_NP_071397.3:p.Glu35Lys;Amino_acid_change_in_longest_transcript=,NP_071397.3:p.Glu35Lys;BaseQRankSum=,-0.48;Coding_region_change=,NM_022114.3:c.103G>A|_NM_199454.2:c.103G>A;Coding_region_change_in_longest_transcript=,NM_022114.3:c.103G>A;Forward_read_coverage=,89;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:63976;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:63976;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:14000;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:14000;Homo_sapiens_refseq_GRCh37.p13_Genes=,PRDM16;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_022114.3|NM_199454.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene125;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna206|rna207;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:605557;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:605557;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene125;QUAL=,200.0;Read_count=,74;Read_coverage=,146;Read_direction_test_probability=,0.9946482749623073;Read_position_test_probability=,0.935284378507553;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_022114.3|NM_199454.2;Reverse_read_coverage=,57;SF=33;conservation_score=,0.906;db_xref=,GeneID:63976|HGNC:HGNC:14000|MIM:605557;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_022114.3|Genbank:NM_199454.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,PR/SET_domain_16;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,PRDM16;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,PRDM16;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1LL|KMT8F|LVNC8|MEL1|PFM13;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,PR/SET_domain_16|_transcript_variant_1|PR/SET_domain_16|_transcript_variant_2;transcript_id=,NM_022114.3|NM_199454.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PRDM16:NM_022114:exon2:c.G103A:p.E35K,PRDM16:NM_199454:exon2:c.G103A:p.E35K;cytoBand=1p36.32;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs777374351;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;ExAC_ALL=1.7e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0;ExAC_OTH=0;ExAC_SAS=0.0001;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.007;SIFT_pred=D;Polyphen2_HDIV_score=0.998;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.994;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=U;MutationTaster_score=0.999;MutationTaster_pred=D;MutationAssessor_score=1.67;MutationAssessor_pred=L;FATHMM_score=1.53;FATHMM_pred=T;PROVEAN_score=-0.87;PROVEAN_pred=N;VEST3_score=0.539;CADD_raw=3.281;CADD_phred=22.8;DANN_score=0.999;fathmm-MKL_coding_score=0.984;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.810;MetaSVM_pred=T;MetaLR_score=0.176;MetaLR_pred=T;integrated_fitCons_score=0.517;integrated_confidence_value=0;GERP++_RS=5.1;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.953;phastCons7way_vertebrate=0.638;phastCons20way_mammalian=0.112;SiPhy_29way_logOdds=18.512;GDI_full_10282015=.;dpsi_max_tissue=0.7331;dpsi_zscore=1.338;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=1.226e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=9.053e-06;gnomAD_exome_OTH=0;gnomAD_exome_SAS=6.499e-05;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:119:0,59 . . . . . . . . 1 3301721 227041;rs2282198 C T 200.00 . #_unique_end_positions=,42;#_unique_start_positions=,35;AC=19;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0386;AF_ESP_clinvar_20171029_hg19=,0.2049;AF_EXAC_clinvar_20171029_hg19=,0.32950;AF_TGP_clinvar_20171029_hg19=,0.3405;ALLELEID_clinvar_20171029_hg19=,228417;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3285;AN=19;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.28;CAF_dbsnp_common_v150_hg19_refseq=,0.6595|0.3405;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000001.10:g.3301721C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_022114.3:c.444C>T|_NM_199454.2:c.444C>T;Coding_region_change_in_longest_transcript=,NM_022114.3:c.444C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6220;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2684;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,47;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,PRDM16:63976;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:63976;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:63976;Genotype=,T/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:14000;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:14000;Homo_sapiens_refseq_GRCh37.p13_Genes=,PRDM16;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_022114.3|NM_199454.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene125;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna206|rna207;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:605557;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:605557;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene125;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,3301721;RS_dbsnp_common_v150_hg19_refseq=,2282198;Read_count=,73;Read_coverage=,73;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_022114.3|NM_199454.2;Reverse_read_coverage=,26;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5409;SF=0,2,4,7,9,11,18,21,25,27,29,32,33,35,39,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.807027|0.192973;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05012800030515053e000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.472;db_xref=,GeneID:63976|HGNC:HGNC:14000|MIM:605557;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_022114.3|Genbank:NM_199454.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,PR/SET_domain_16;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,PRDM16;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,PRDM16;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1LL|KMT8F|LVNC8|MEL1|PFM13;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,PR/SET_domain_16|_transcript_variant_1|PR/SET_domain_16|_transcript_variant_2;transcript_id=,NM_022114.3|NM_199454.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=PRDM16:NM_022114:exon4:c.C444T:p.S148S,PRDM16:NM_199454:exon4:c.C444T:p.S148S;cytoBand=1p36.32;genomicSuperDups=.;esp6500siv2_all=0.2049;esp6500siv2_ea=0.2668;esp6500siv2_all=0.2049;esp6500siv2_ea=0.2668;1000g2015aug_all=0.340455;avsnp147=rs2282198;Kaviar_AF=0.316684;Kaviar_AC=48960;Kaviar_AN=154602;ExAC_ALL=0.3295;ExAC_AFR=0.0802;ExAC_AMR=0.4145;ExAC_EAS=0.5966;ExAC_FIN=0.3095;ExAC_NFE=0.2706;ExAC_OTH=0.3158;ExAC_SAS=0.5226;CLNALLELEID=228417;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.0678;dpsi_zscore=-1.510;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3332;gnomAD_exome_AFR=0.0761;gnomAD_exome_AMR=0.4029;gnomAD_exome_ASJ=0.2102;gnomAD_exome_EAS=0.5989;gnomAD_exome_FIN=0.3076;gnomAD_exome_NFE=0.2715;gnomAD_exome_OTH=0.3016;gnomAD_exome_SAS=0.5230;gnomAD_genome_ALL=0.2446;gnomAD_genome_AFR=0.0786;gnomAD_genome_AMR=0.3816;gnomAD_genome_ASJ=0.2649;gnomAD_genome_EAS=0.6075;gnomAD_genome_FIN=0.2991;gnomAD_genome_NFE=0.2782;gnomAD_genome_OTH=0.2982;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1/1:62:0,62 . 1:104:0,43 . 1:79:0,29 . . 1:82:0,39 . 1:97:0,42 . 1:109:0,55 . . . . . . 1:76:0,40 . . 1:128:0,55 . . . 1/1:78:0,78 . 1:151:0,70 . 1:128:0,68 . . 1:81:0,35 1:73:0,34 . 1:81:0,36 . . . 1/1:112:0,112 . 1:100:0,60 1 3301802 . G C 200.00 . #_unique_end_positions=,40;#_unique_start_positions=,38;AC=1;AN=1;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.06;Coding_region_change=,NM_022114.3:c.525G>C|_NM_199454.2:c.525G>C;Coding_region_change_in_longest_transcript=,NM_022114.3:c.525G>C;Forward_read_coverage=,95;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:63976;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:63976;Genotype=,C/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:14000;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:14000;Homo_sapiens_refseq_GRCh37.p13_Genes=,PRDM16;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_022114.3|NM_199454.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene125;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna206|rna207;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:605557;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:605557;Non-synonymous=,No;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene125;QUAL=,200.0;Read_count=,58;Read_coverage=,156;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9630577233553439;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_022114.3|NM_199454.2;Reverse_read_coverage=,61;SF=16;conservation_score=,0.036;db_xref=,GeneID:63976|HGNC:HGNC:14000|MIM:605557;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_022114.3|Genbank:NM_199454.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,PR/SET_domain_16;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,PRDM16;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,PRDM16;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1LL|KMT8F|LVNC8|MEL1|PFM13;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,PR/SET_domain_16|_transcript_variant_1|PR/SET_domain_16|_transcript_variant_2;transcript_id=,NM_022114.3|NM_199454.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=PRDM16:NM_022114:exon4:c.G525C:p.A175A,PRDM16:NM_199454:exon4:c.G525C:p.A175A;cytoBand=1p36.32;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs761677255;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;ExAC_ALL=3.331e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=6.047e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1576;dpsi_zscore=-0.598;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=2.438e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=4.479e-05;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=0;gnomAD_genome_ALL=3.23e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.668e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . 1:127:0,50 . . . . . . . . . . . . . . . . . . . . . . . . . 1 3328358 227026;rs870124 T C 189.50 . #_unique_end_positions=,56;#_unique_start_positions=,63;AC=70;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9924;ALLELEID_clinvar_20171029_hg19=,228438;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9006;AN=70;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_071397.3:p.Ser533Pro|_NP_955533.2:p.Ser533Pro;Amino_acid_change_in_longest_transcript=,NP_071397.3:p.Ser533Pro;BaseQRankSum=,0.29;CAF_dbsnp_common_v150_hg19_refseq=,0.05491|0.9451|.;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000001.10:g.3328358T>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_022114.3:c.1597T>C|_NM_199454.2:c.1597T>C;Coding_region_change_in_longest_transcript=,NM_022114.3:c.1597T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9980;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.8419;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,57;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,PRDM16:63976;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:63976;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:63976;Genotype=,C/C;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:14000;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:14000;Homo_sapiens_refseq_GRCh37.p13_Genes=,PRDM16;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_022114.3|NM_199454.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene125;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna206|rna207;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:605557;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:605557;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene125;QUAL=,159.54589770191004;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,3328358;RS_dbsnp_common_v150_hg19_refseq=,870124;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,123;Read_coverage=,123;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_022114.3|NM_199454.2;Reverse_read_coverage=,66;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9642;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,32,33,34,35,36,37,38,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.105948|0.894052|.;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128000a0515053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.833333;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,1;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.958824;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.988095;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,1;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.867347;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.982143;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.839286;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,1;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.893;db_xref=,GeneID:63976|HGNC:HGNC:14000|MIM:605557;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_022114.3|Genbank:NM_199454.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,PR/SET_domain_16;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,PRDM16;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,PRDM16;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1LL|KMT8F|LVNC8|MEL1|PFM13;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,PR/SET_domain_16|_transcript_variant_1|PR/SET_domain_16|_transcript_variant_2;transcript_id=,NM_022114.3|NM_199454.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PRDM16:NM_022114:exon9:c.T1597C:p.S533P,PRDM16:NM_199454:exon9:c.T1597C:p.S533P;cytoBand=1p36.32;genomicSuperDups=.;esp6500siv2_all=0.8777;esp6500siv2_ea=0.8356;esp6500siv2_all=0.8777;esp6500siv2_ea=0.8356;1000g2015aug_all=0.945088;avsnp147=rs870124;Kaviar_AF=0.871858;Kaviar_AC=134791;Kaviar_AN=154602;ExAC_ALL=0.8897;ExAC_AFR=0.9721;ExAC_AMR=0.9243;ExAC_EAS=0.9998;ExAC_FIN=0.9099;ExAC_NFE=0.8404;ExAC_OTH=0.8873;ExAC_SAS=0.9508;CLNALLELEID=228438;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.656;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.005;LRT_pred=N;MutationTaster_score=0.909;MutationTaster_pred=P;MutationAssessor_score=-0.55;MutationAssessor_pred=N;FATHMM_score=3.42;FATHMM_pred=T;PROVEAN_score=1.41;PROVEAN_pred=N;VEST3_score=0.028;CADD_raw=-0.543;CADD_phred=0.172;DANN_score=0.663;fathmm-MKL_coding_score=0.059;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.955;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=5.33;phyloP7way_vertebrate=0.002;phyloP20way_mammalian=0.058;phastCons7way_vertebrate=0.956;phastCons20way_mammalian=0.826;SiPhy_29way_logOdds=14.274;GDI_full_10282015=.;dpsi_max_tissue=-0.0813;dpsi_zscore=-0.389;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.8901;gnomAD_exome_AFR=0.9726;gnomAD_exome_AMR=0.9239;gnomAD_exome_ASJ=0.8534;gnomAD_exome_EAS=0.9997;gnomAD_exome_FIN=0.9133;gnomAD_exome_NFE=0.8350;gnomAD_exome_OTH=0.8740;gnomAD_exome_SAS=0.9500;gnomAD_genome_ALL=0.9008;gnomAD_genome_AFR=0.9696;gnomAD_genome_AMR=0.9332;gnomAD_genome_ASJ=0.86;gnomAD_genome_EAS=0.9994;gnomAD_genome_FIN=0.9196;gnomAD_genome_NFE=0.8459;gnomAD_genome_OTH=0.8794;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1/1:108:0,108 1:215:0,115 1/1:163:0,163 1/1:209:0,209 1:142:0,77 1/1:216:0,215 1:104:0,45 1/1:178:0,178 1:207:0,106 1/1:185:0,185 1/1:230:0,228 1/1:162:0,162 1/1:217:0,217 1/1:192:0,192 1/1:300:0,300 1:188:0,87 1/1:197:0,197 1:199:0,95 1/1:179:0,179 1/1:189:0,189 1/1:192:0,192 1/1:273:0,273 1:256:0,140 1/1:239:0,239 1/1:245:0,245 1/1:155:0,155 1:152:0,72 1/1:230:0,230 1:254:0,130 1/1:260:0,260 1/1:208:0,208 . 1:187:0,87 1/1:193:0,193 1/1:159:0,159 1:152:0,74 1/1:162:0,162 1/1:147:0,147 1/1:175:0,175 1/1:194:0,194 1/1:209:0,209 1:143:0,57 1 3328659 227027;rs2493292 C T 189.01 . #_unique_end_positions=,67;#_unique_start_positions=,49;AC=22;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1634;AF_ESP_clinvar_20171029_hg19=,0.1523;AF_EXAC_clinvar_20171029_hg19=,0.13103;AF_TGP_clinvar_20171029_hg19=,0.1060;ALLELEID_clinvar_20171029_hg19=,228440;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1210;AN=22;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_955533.2:p.Pro633Leu|_NP_071397.3:p.Pro633Leu;Amino_acid_change_in_longest_transcript=,NP_071397.3:p.Pro633Leu;BaseQRankSum=,-0.45;CAF_dbsnp_common_v150_hg19_refseq=,0.894|0.106;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000001.10:g.3328659C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_022114.3:c.1898C>T|_NM_199454.2:c.1898C>T;Coding_region_change_in_longest_transcript=,NM_022114.3:c.1898C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0060;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1660;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,112;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,PRDM16:63976;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:63976;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:63976;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:14000;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:14000;Homo_sapiens_refseq_GRCh37.p13_Genes=,PRDM16;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_022114.3|NM_199454.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene125;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna206|rna207;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:605557;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:605557;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene125;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,3328659;RS_dbsnp_common_v150_hg19_refseq=,2493292;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,107;Read_coverage=,191;Read_direction_test_probability=,0.8974839203020234;Read_position_test_probability=,0.9355766866414031;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_022114.3|NM_199454.2;Reverse_read_coverage=,79;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0593;SF=1,6,7,10,12,15,18,19,20,23,24,30,37,38,40;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.847929|0.152071;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128000a0515053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.173469;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.154867;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.0681818;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0232558;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.155556;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.1;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.15035;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.227273;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.151786;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.921;db_xref=,GeneID:63976|HGNC:HGNC:14000|MIM:605557;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_022114.3|Genbank:NM_199454.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,PR/SET_domain_16;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,PRDM16;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,PRDM16;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1LL|KMT8F|LVNC8|MEL1|PFM13;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,PR/SET_domain_16|_transcript_variant_1|PR/SET_domain_16|_transcript_variant_2;transcript_id=,NM_022114.3|NM_199454.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PRDM16:NM_022114:exon9:c.C1898T:p.P633L,PRDM16:NM_199454:exon9:c.C1898T:p.P633L;cytoBand=1p36.32;genomicSuperDups=.;esp6500siv2_all=0.1523;esp6500siv2_ea=0.1516;esp6500siv2_all=0.1523;esp6500siv2_ea=0.1516;1000g2015aug_all=0.10603;avsnp147=rs2493292;Kaviar_AF=0.126176;Kaviar_AC=19507;Kaviar_AN=154602;ExAC_ALL=0.1310;ExAC_AFR=0.1698;ExAC_AMR=0.0737;ExAC_EAS=0.0108;ExAC_FIN=0.0971;ExAC_NFE=0.1636;ExAC_OTH=0.1594;ExAC_SAS=0.0839;CLNALLELEID=228440;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.035;SIFT_pred=D;Polyphen2_HDIV_score=0.321;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.075;Polyphen2_HVAR_pred=B;LRT_score=0.013;LRT_pred=N;MutationTaster_score=0.097;MutationTaster_pred=P;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=3.58;FATHMM_pred=T;PROVEAN_score=-0.23;PROVEAN_pred=N;VEST3_score=0.054;CADD_raw=3.424;CADD_phred=23.0;DANN_score=0.997;fathmm-MKL_coding_score=0.940;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.906;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.581;integrated_confidence_value=0;GERP++_RS=4.18;phyloP7way_vertebrate=-0.029;phyloP20way_mammalian=0.028;phastCons7way_vertebrate=0.912;phastCons20way_mammalian=0.009;SiPhy_29way_logOdds=14.960;GDI_full_10282015=.;dpsi_max_tissue=0.0354;dpsi_zscore=0.227;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1231;gnomAD_exome_AFR=0.1639;gnomAD_exome_AMR=0.0803;gnomAD_exome_ASJ=0.2228;gnomAD_exome_EAS=0.0107;gnomAD_exome_FIN=0.0990;gnomAD_exome_NFE=0.1563;gnomAD_exome_OTH=0.1523;gnomAD_exome_SAS=0.0762;gnomAD_genome_ALL=0.1349;gnomAD_genome_AFR=0.1632;gnomAD_genome_AMR=0.1026;gnomAD_genome_ASJ=0.1833;gnomAD_genome_EAS=0.0130;gnomAD_genome_FIN=0.1024;gnomAD_genome_NFE=0.1406;gnomAD_genome_OTH=0.1283;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . 1:182:0,102 . . . . 1:145:0,66 1/1:206:0,206 . . 1:235:0,122 . 1/1:237:0,237 . . 1:172:0,75 . . 1:164:0,80 1:200:0,94 1:190:0,86 . . 1/1:231:0,231 1/1:256:0,256 . . . . . 1:221:0,96 . . . . . . 1/1:154:0,154 1/1:172:0,172 . 1/1:202:0,202 . 1 3328915 . G A 200.00 . #_unique_end_positions=,85;#_unique_start_positions=,80;AC=2;AN=2;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.32;Coding_region_change=,NM_022114.3:c.2154G>A|_NM_199454.2:c.2154G>A;Coding_region_change_in_longest_transcript=,NM_022114.3:c.2154G>A;Forward_read_coverage=,142;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:63976;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:63976;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:14000;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:14000;Homo_sapiens_refseq_GRCh37.p13_Genes=,PRDM16;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_022114.3|NM_199454.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene125;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna206|rna207;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:605557;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:605557;Non-synonymous=,No;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene125;QUAL=,200.0;Read_count=,174;Read_coverage=,346;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.8740926082060998;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_022114.3|NM_199454.2;Reverse_read_coverage=,204;SF=23,38;conservation_score=,0.52;db_xref=,GeneID:63976|HGNC:HGNC:14000|MIM:605557;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_022114.3|Genbank:NM_199454.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,PR/SET_domain_16;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,PRDM16;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,PRDM16;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1LL|KMT8F|LVNC8|MEL1|PFM13;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,PR/SET_domain_16|_transcript_variant_1|PR/SET_domain_16|_transcript_variant_2;transcript_id=,NM_022114.3|NM_199454.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=PRDM16:NM_022114:exon9:c.G2154A:p.S718S,PRDM16:NM_199454:exon9:c.G2154A:p.S718S;cytoBand=1p36.32;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs781041726;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;ExAC_ALL=3.322e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=6.018e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=496163;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1378;dpsi_zscore=-0.552;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=6.114e-05;gnomAD_exome_AFR=0.0001;gnomAD_exome_AMR=8.935e-05;gnomAD_exome_ASJ=0.0001;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=7.19e-05;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0001;gnomAD_genome_AFR=0.0003;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.686e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . 1:326:0,170 . . . . . . . . . . . . . . 1:197:0,93 . . . 1 3329213 241426;rs201904226 G A 200.00 . #_unique_end_positions=,64;#_unique_start_positions=,63;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0014;AF_EXAC_clinvar_20171029_hg19=,0.00442;AF_TGP_clinvar_20171029_hg19=,0.0012;ALLELEID_clinvar_20171029_hg19=,238274;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0014;AN=1;Amino_acid_change=,NP_955533.2:p.Gly818Ser|_NP_071397.3:p.Gly818Ser;Amino_acid_change_in_longest_transcript=,NP_071397.3:p.Gly818Ser;BaseQRankSum=,0.16;CLNDISDB_clinvar_20171029_hg19=,MedGen:C3809288|OMIM:615373|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Left_ventricular_noncompaction_8|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000001.10:g.3329213G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;Coding_region_change=,NM_022114.3:c.2452G>A|_NM_199454.2:c.2452G>A;Coding_region_change_in_longest_transcript=,NM_022114.3:c.2452G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0020;Exact_match=,clinvar_20171029_hg19|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,110;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:63976;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:63976;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:14000;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:14000;Homo_sapiens_refseq_GRCh37.p13_Genes=,PRDM16;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_022114.3|NM_199454.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene125;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna206|rna207;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:605557;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:605557;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene125;QUAL=,200.0;Read_count=,135;Read_coverage=,248;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9967472402554536;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_022114.3|NM_199454.2;Reverse_read_coverage=,138;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0031;SF=21;conservation_score=,0.166;db_xref=,GeneID:63976|HGNC:HGNC:14000|MIM:605557;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_022114.3|Genbank:NM_199454.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,PR/SET_domain_16;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,PRDM16;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,PRDM16;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1LL|KMT8F|LVNC8|MEL1|PFM13;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,PR/SET_domain_16|_transcript_variant_1|PR/SET_domain_16|_transcript_variant_2;transcript_id=,NM_022114.3|NM_199454.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PRDM16:NM_022114:exon9:c.G2452A:p.G818S,PRDM16:NM_199454:exon9:c.G2452A:p.G818S;cytoBand=1p36.32;genomicSuperDups=.;esp6500siv2_all=0.0014;esp6500siv2_ea=0.0020;esp6500siv2_all=0.0014;esp6500siv2_ea=0.0020;1000g2015aug_all=0.00119808;avsnp147=rs201904226;Kaviar_AF=0.0016041;Kaviar_AC=248;Kaviar_AN=154602;ExAC_ALL=0.0044;ExAC_AFR=0.0013;ExAC_AMR=0.0023;ExAC_EAS=0;ExAC_FIN=0.0038;ExAC_NFE=0.0054;ExAC_OTH=0.0041;ExAC_SAS=0.0053;CLNALLELEID=238274;CLNDN=Left_ventricular_noncompaction_8|not_specified;CLNDISDB=MedGen:C3809288,OMIM:615373|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.351;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=1.0;Polyphen2_HVAR_pred=D;LRT_score=0.005;LRT_pred=U;MutationTaster_score=1.000;MutationTaster_pred=N;MutationAssessor_score=-0.345;MutationAssessor_pred=N;FATHMM_score=3.56;FATHMM_pred=T;PROVEAN_score=-0.62;PROVEAN_pred=N;VEST3_score=0.289;CADD_raw=0.736;CADD_phred=9.063;DANN_score=0.992;fathmm-MKL_coding_score=0.811;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.028;MetaSVM_pred=T;MetaLR_score=0.020;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=3.41;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.132;phastCons7way_vertebrate=0.431;phastCons20way_mammalian=0.306;SiPhy_29way_logOdds=9.816;GDI_full_10282015=.;dpsi_max_tissue=0.0604;dpsi_zscore=0.343;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0020;gnomAD_exome_AFR=0.0004;gnomAD_exome_AMR=0.0013;gnomAD_exome_ASJ=0.0031;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0010;gnomAD_exome_NFE=0.0028;gnomAD_exome_OTH=0.0021;gnomAD_exome_SAS=0.0024;gnomAD_genome_ALL=0.0015;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0006;gnomAD_genome_NFE=0.0025;gnomAD_genome_OTH=0.0061;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . 1:211:0,116 . . . . . . . . . . . . . . . . . . . . 1 3331193 227031;rs3819970 G A 200.00 . #_unique_end_positions=,30;#_unique_start_positions=,31;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0015;AF_ESP_clinvar_20171029_hg19=,0.0006;AF_EXAC_clinvar_20171029_hg19=,0.01362;AF_TGP_clinvar_20171029_hg19=,0.0180;ALLELEID_clinvar_20171029_hg19=,228453;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0994;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.2;CAF_dbsnp_common_v150_hg19_refseq=,0.982|0.01797;CLNDISDB_clinvar_20171029_hg19=,MedGen:C3809288|OMIM:615373|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Left_ventricular_noncompaction_8|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000001.10:g.3331193G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_022114.3:c.2673G>A|_NM_199454.2:c.2673G>A;Coding_region_change_in_longest_transcript=,NM_022114.3:c.2673G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0188;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,62;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,PRDM16:63976;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:63976;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:63976;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:14000;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:14000;Homo_sapiens_refseq_GRCh37.p13_Genes=,PRDM16;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_022114.3|NM_199454.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene125;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna206|rna207;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:605557;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:605557;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene125;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,3331193;RS_dbsnp_common_v150_hg19_refseq=,3819970;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,49;Read_coverage=,111;Read_direction_test_probability=,0.8724342480938829;Read_position_test_probability=,0.8705237053484607;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_022114.3|NM_199454.2;Reverse_read_coverage=,49;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=11;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.994711|0.00528882;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050328000305150436000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.254;db_xref=,GeneID:63976|HGNC:HGNC:14000|MIM:605557;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_022114.3|Genbank:NM_199454.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,PR/SET_domain_16;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,PRDM16;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,PRDM16;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1LL|KMT8F|LVNC8|MEL1|PFM13;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,PR/SET_domain_16|_transcript_variant_1|PR/SET_domain_16|_transcript_variant_2;transcript_id=,NM_022114.3|NM_199454.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=PRDM16:NM_022114:exon10:c.G2673A:p.P891P,PRDM16:NM_199454:exon10:c.G2673A:p.P891P;cytoBand=1p36.32;genomicSuperDups=.;esp6500siv2_all=0.0006;esp6500siv2_ea=0.0006;esp6500siv2_all=0.0006;esp6500siv2_ea=0.0006;1000g2015aug_all=0.0179712;avsnp147=rs3819970;Kaviar_AF=0.0119856;Kaviar_AC=1853;Kaviar_AN=154602;ExAC_ALL=0.0136;ExAC_AFR=0.0017;ExAC_AMR=0.1097;ExAC_EAS=0.0348;ExAC_FIN=0;ExAC_NFE=0.0002;ExAC_OTH=0.0102;ExAC_SAS=0.0002;CLNALLELEID=228453;CLNDN=Left_ventricular_noncompaction_8|not_specified;CLNDISDB=MedGen:C3809288,OMIM:615373|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.6740;dpsi_zscore=-1.248;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0162;gnomAD_exome_AFR=0.0020;gnomAD_exome_AMR=0.0962;gnomAD_exome_ASJ=0.0018;gnomAD_exome_EAS=0.0334;gnomAD_exome_FIN=4.526e-05;gnomAD_exome_NFE=9.231e-05;gnomAD_exome_OTH=0.0103;gnomAD_exome_SAS=0.0002;gnomAD_genome_ALL=0.0044;gnomAD_genome_AFR=0.0017;gnomAD_genome_AMR=0.0849;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0.0272;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.691e-05;gnomAD_genome_OTH=0.0041;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . . . 1:93:0,41 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 3342307 241428;rs199853370 C T 200.00 . #_unique_end_positions=,43;#_unique_start_positions=,47;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0015;AF_EXAC_clinvar_20171029_hg19=,0.00204;AF_TGP_clinvar_20171029_hg19=,0.0016;ALLELEID_clinvar_20171029_hg19=,238276;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0029;AN=1;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.34;CLNDISDB_clinvar_20171029_hg19=,MedGen:C3809288|OMIM:615373|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Left_ventricular_noncompaction_8|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000001.10:g.3342307C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;Coding_region_change=,NM_022114.3:c.3102C>T|_NM_199454.2:c.3102C>T;Coding_region_change_in_longest_transcript=,NM_022114.3:c.3102C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;Exact_match=,clinvar_20171029_hg19|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,56;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:63976;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:63976;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:14000;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:14000;Homo_sapiens_refseq_GRCh37.p13_Genes=,PRDM16;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_022114.3|NM_199454.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene125;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna206|rna207;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:605557;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:605557;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene125;QUAL=,200.0;Read_count=,62;Read_coverage=,142;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.6315300109797229;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_022114.3|NM_199454.2;Reverse_read_coverage=,86;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0051;SF=3;conservation_score=,0.474;db_xref=,GeneID:63976|HGNC:HGNC:14000|MIM:605557;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_022114.3|Genbank:NM_199454.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,PR/SET_domain_16;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,PRDM16;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,PRDM16;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1LL|KMT8F|LVNC8|MEL1|PFM13;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,PR/SET_domain_16|_transcript_variant_1|PR/SET_domain_16|_transcript_variant_2;transcript_id=,NM_022114.3|NM_199454.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=PRDM16:NM_022114:exon13:c.C3102T:p.N1034N,PRDM16:NM_199454:exon13:c.C3102T:p.N1034N;cytoBand=1p36.32;genomicSuperDups=.;esp6500siv2_all=0.0015;esp6500siv2_ea=0.0020;esp6500siv2_all=0.0015;esp6500siv2_ea=0.0020;1000g2015aug_all=0.00159744;avsnp147=rs199853370;Kaviar_AF=0.0019081;Kaviar_AC=295;Kaviar_AN=154602;ExAC_ALL=0.0020;ExAC_AFR=0.0003;ExAC_AMR=0.0014;ExAC_EAS=0;ExAC_FIN=0.0073;ExAC_NFE=0.0021;ExAC_OTH=0.0057;ExAC_SAS=0.0019;CLNALLELEID=238276;CLNDN=Left_ventricular_noncompaction_8|not_specified;CLNDISDB=MedGen:C3809288,OMIM:615373|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0400;dpsi_zscore=0.250;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0019;gnomAD_exome_AFR=0.0001;gnomAD_exome_AMR=0.0012;gnomAD_exome_ASJ=0.0001;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0063;gnomAD_exome_NFE=0.0018;gnomAD_exome_OTH=0.0042;gnomAD_exome_SAS=0.0019;gnomAD_genome_ALL=0.0014;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0063;gnomAD_genome_NFE=0.0011;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:DP:CLCAD2 . . . 1:130:0,58 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 11906068 226855;rs5065 A G 110.60 . #_unique_end_positions=,26;#_unique_start_positions=,22;AC=9;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4183;AF_ESP_clinvar_20171029_hg19=,0.2410;AF_EXAC_clinvar_20171029_hg19=,0.14369;AF_TGP_clinvar_20171029_hg19=,0.1791;ALLELEID_clinvar_20171029_hg19=,228268;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1138;AN=9;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_006163.1:p.*152Arg;Amino_acid_change_in_longest_transcript=,NP_006163.1:p.*152Arg;BaseQRankSum=,-0.25;CAF_dbsnp_common_v150_hg19_refseq=,0.8209|0.1791;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000001.10:g.11906068A>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_006172.3:c.454T>C;Coding_region_change_in_longest_transcript=,NM_006172.3:c.454T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0129;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1233;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,17;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,NPPA:4878|NPPA-AS1:100379251;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:100379251|GeneID:4878;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:4878;Genotype=,G/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:37635|HGNC:HGNC:7939;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:7939;Homo_sapiens_refseq_GRCh37.p13_Genes=,NPPA-AS1|NPPA;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_006172.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene272|gene273;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna453;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:108780;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:108780;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene273;QUAL=,116.07806626932881;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,11906068;RS_dbsnp_common_v150_hg19_refseq=,5065;Read_count=,33;Read_coverage=,33;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_006172.3;Reverse_read_coverage=,16;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1309;SF=2,3,12,13,17,18,32;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.737688|0.262312;TPA_dbsnp_common_v150_hg19_refseq=,TPA;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05013808020515053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.367347;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.15;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.136364;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0111111;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.294444;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.11;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.339161;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.102273;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.408333;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.976;db_xref=,GeneID:100379251|HGNC:HGNC:37635|GeneID:4878|HGNC:HGNC:7939|MIM:108780;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:00164;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_006172.3|HPRD:00164;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,NPPA_antisense_RNA_1|natriuretic_peptide_A;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,NPPA-AS1|NPPA;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NPPA;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,antisense_RNA|protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,NPPA-AS|NPPAAS|ANF|ANP|ATFB6|ATRST2|CDD|CDD-ANF|CDP|PND;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,natriuretic_peptide_A;transcript_id=,NM_006172.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=NPPA;GeneDetail.refGene=.;ExonicFunc.refGene=stoploss;AAChange.refGene=NPPA:NM_006172:exon3:c.T454C:p.X152R;cytoBand=1p36.22;genomicSuperDups=.;esp6500siv2_all=0.2410;esp6500siv2_ea=0.1552;esp6500siv2_all=0.2410;esp6500siv2_ea=0.1552;1000g2015aug_all=0.179113;avsnp147=rs5065;Kaviar_AF=0.142514;Kaviar_AC=22033;Kaviar_AN=154602;ExAC_ALL=0.1437;ExAC_AFR=0.4078;ExAC_AMR=0.0797;ExAC_EAS=0.0117;ExAC_FIN=0.0755;ExAC_NFE=0.1343;ExAC_OTH=0.1531;ExAC_SAS=0.1559;CLNALLELEID=228268;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=1.595;CADD_phred=13.82;DANN_score=0.790;fathmm-MKL_coding_score=0.001;fathmm-MKL_coding_pred=N;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=0.093;integrated_confidence_value=0;GERP++_RS=0.954;phyloP7way_vertebrate=-0.889;phyloP20way_mammalian=-0.231;phastCons7way_vertebrate=0.966;phastCons20way_mammalian=0.997;SiPhy_29way_logOdds=2.125;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM040788#"Stroke_increased_risk_association_with";gnomAD_exome_ALL=0.1368;gnomAD_exome_AFR=0.4147;gnomAD_exome_AMR=0.0888;gnomAD_exome_ASJ=0.1187;gnomAD_exome_EAS=0.0104;gnomAD_exome_FIN=0.0764;gnomAD_exome_NFE=0.1405;gnomAD_exome_OTH=0.1457;gnomAD_exome_SAS=0.1561;gnomAD_genome_ALL=0.2008;gnomAD_genome_AFR=0.4126;gnomAD_genome_AMR=0.0967;gnomAD_genome_ASJ=0.1225;gnomAD_genome_EAS=0.0093;gnomAD_genome_FIN=0.0764;gnomAD_genome_NFE=0.1399;gnomAD_genome_OTH=0.1268;Whole_Blood=Whole_Blood::0.173442::-0.262715;Liver=Liver::0.156863::-0.803226;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . 1/1:29:0,29 1:33:0,19 . . . . . . . . 1:48:0,29 1:34:0,15 . . . 1:27:0,14 1:27:0,15 . . . . . . . . . . . . . 1/1:35:0,35 . . . . . . . . . 1 11907430 126847;rs61757261 T G 200.00 . #_unique_end_positions=,50;#_unique_start_positions=,41;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0020;AF_EXAC_clinvar_20171029_hg19=,0.00191;AF_TGP_clinvar_20171029_hg19=,0.0006;ALLELEID_clinvar_20171029_hg19=,132361;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0014;AN=1;Amino_acid_change=,NP_006163.1:p.Ser64Arg;Amino_acid_change_in_longest_transcript=,NP_006163.1:p.Ser64Arg;BaseQRankSum=,0.12;CLNDISDB_clinvar_20171029_hg19=,MedGen:C2677294|OMIM:612201;CLNDN_clinvar_20171029_hg19=,Atrial_fibrillation|_familial|_6;CLNHGVS_clinvar_20171029_hg19=,NC_000001.10:g.11907430T>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_conflicting_interpretations;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,OMIM_Allelic_Variant:108780.0002;Coding_region_change=,NM_006172.3:c.190A>C;Coding_region_change_in_longest_transcript=,NM_006172.3:c.190A>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;Exact_match=,clinvar_20171029_hg19|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,89;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:100379251|GeneID:4878;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:4878;Genotype=,G/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:37635|HGNC:HGNC:7939;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:7939;Homo_sapiens_refseq_GRCh37.p13_Genes=,NPPA-AS1|NPPA;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_006172.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene272|gene273;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna453;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:108780;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:108780;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene273;QUAL=,200.0;Read_count=,76;Read_coverage=,180;Read_direction_test_probability=,0.9932412858761706;Read_position_test_probability=,0.9269608955078874;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_006172.3;Reverse_read_coverage=,91;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;SF=21;conservation_score=,0.0;db_xref=,GeneID:100379251|HGNC:HGNC:37635|GeneID:4878|HGNC:HGNC:7939|MIM:108780;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:00164;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_006172.3|HPRD:00164;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,NPPA_antisense_RNA_1|natriuretic_peptide_A;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,NPPA-AS1|NPPA;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NPPA;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,antisense_RNA|protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,NPPA-AS|NPPAAS|ANF|ANP|ATFB6|ATRST2|CDD|CDD-ANF|CDP|PND;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,natriuretic_peptide_A;transcript_id=,NM_006172.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=NPPA;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=NPPA:NM_006172:exon2:c.A190C:p.S64R;cytoBand=1p36.22;genomicSuperDups=.;esp6500siv2_all=0.0020;esp6500siv2_ea=0.0028;esp6500siv2_all=0.0020;esp6500siv2_ea=0.0028;1000g2015aug_all=0.000599042;avsnp147=rs61757261;Kaviar_AF=0.0018499;Kaviar_AC=286;Kaviar_AN=154602;ExAC_ALL=0.0019;ExAC_AFR=0.0005;ExAC_AMR=0.0016;ExAC_EAS=0;ExAC_FIN=0.0002;ExAC_NFE=0.0028;ExAC_OTH=0.0011;ExAC_SAS=0.0012;CLNALLELEID=132361;CLNDN=Atrial_fibrillation,_familial,_6;CLNDISDB=MedGen:C2677294,OMIM:612201;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=0.462;SIFT_pred=T;Polyphen2_HDIV_score=0.024;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.007;Polyphen2_HVAR_pred=B;LRT_score=0.083;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=2.095;MutationAssessor_pred=M;FATHMM_score=0.91;FATHMM_pred=T;PROVEAN_score=-0.59;PROVEAN_pred=N;VEST3_score=0.634;CADD_raw=-0.738;CADD_phred=0.059;DANN_score=0.785;fathmm-MKL_coding_score=0.068;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.003;MetaSVM_pred=T;MetaLR_score=0.101;MetaLR_pred=T;integrated_fitCons_score=0.421;integrated_confidence_value=0;GERP++_RS=3.54;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=1.049;phastCons7way_vertebrate=0.157;phastCons20way_mammalian=0.014;SiPhy_29way_logOdds=7.273;GDI_full_10282015=.;dpsi_max_tissue=0.1379;dpsi_zscore=0.588;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM109498#"Atrial_fibrillation";gnomAD_exome_ALL=0.0020;gnomAD_exome_AFR=0.0005;gnomAD_exome_AMR=0.0016;gnomAD_exome_ASJ=0.0054;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0003;gnomAD_exome_NFE=0.0029;gnomAD_exome_OTH=0.0024;gnomAD_exome_SAS=0.0011;gnomAD_genome_ALL=0.0016;gnomAD_genome_AFR=0.0005;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0.0099;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0009;gnomAD_genome_NFE=0.0025;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . 1:164:0,70 . . . . . . . . . . . . . . . . . . . . 1 26385003 rs2275950 T C 194.76 . #_unique_end_positions=,40;#_unique_start_positions=,46;AC=19;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2670;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1239;AN=19;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_115977.2:p.Lys237Glu;Amino_acid_change_in_longest_transcript=,NP_115977.2:p.Lys237Glu;BaseQRankSum=,-0.38;CAF_dbsnp_common_v150_hg19_refseq=,0.8177|0.1823|.;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_032588.3:c.709A>G;Coding_region_change_in_longest_transcript=,NM_032588.3:c.709A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1706;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2187;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,45;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TRIM63:84676;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84676;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84676;Genotype=,C/C;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:16007;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:16007;Homo_sapiens_refseq_GRCh37.p13_Genes=,TRIM63;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_032588.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene598;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna980;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:606131;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:606131;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene598;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,26385003;RS_dbsnp_common_v150_hg19_refseq=,2275950;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,79;Read_coverage=,79;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_032588.3;Reverse_read_coverage=,34;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0838;SF=0,3,5,8,12,13,15,17,18,20,26,32,35,36,37,39;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.767017|0.232983|.;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050100000a0517053f000101;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.173469;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.266667;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.182927;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.190476;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.0909091;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.233333;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.1;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.353933;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.0612245;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.315603;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.287356;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.216667;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:84676|HGNC:HGNC:16007|MIM:606131;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:05843;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_032588.3|HPRD:05843;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,tripartite_motif_containing_63;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TRIM63;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TRIM63;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,IRF|MURF1|MURF2|RNF28|SMRZ;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,tripartite_motif_containing_63;transcript_id=,NM_032588.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TRIM63;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TRIM63:NM_032588:exon5:c.A709G:p.K237E;cytoBand=1p36.11;genomicSuperDups=.;esp6500siv2_all=0.2350;esp6500siv2_ea=0.2165;esp6500siv2_all=0.2350;esp6500siv2_ea=0.2165;1000g2015aug_all=0.182308;avsnp147=rs2275950;Kaviar_AF=0.19232;Kaviar_AC=29733;Kaviar_AN=154602;ExAC_ALL=0.1921;ExAC_AFR=0.2706;ExAC_AMR=0.0851;ExAC_EAS=0.1937;ExAC_FIN=0.1959;ExAC_NFE=0.2195;ExAC_OTH=0.1652;ExAC_SAS=0.1062;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-2.47;MutationAssessor_pred=N;FATHMM_score=1.02;FATHMM_pred=T;PROVEAN_score=3.31;PROVEAN_pred=N;VEST3_score=0.019;CADD_raw=1.211;CADD_phred=11.80;DANN_score=0.504;fathmm-MKL_coding_score=0.166;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.985;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.447;integrated_confidence_value=0;GERP++_RS=5.5;phyloP7way_vertebrate=0.002;phyloP20way_mammalian=0.016;phastCons7way_vertebrate=0.992;phastCons20way_mammalian=0.990;SiPhy_29way_logOdds=14.221;GDI_full_10282015=.;dpsi_max_tissue=-0.1761;dpsi_zscore=-0.638;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1840;gnomAD_exome_AFR=0.2697;gnomAD_exome_AMR=0.0961;gnomAD_exome_ASJ=0.1877;gnomAD_exome_EAS=0.1980;gnomAD_exome_FIN=0.1851;gnomAD_exome_NFE=0.2175;gnomAD_exome_OTH=0.1867;gnomAD_exome_SAS=0.1056;gnomAD_genome_ALL=0.2103;gnomAD_genome_AFR=0.2614;gnomAD_genome_AMR=0.1559;gnomAD_genome_ASJ=0.1867;gnomAD_genome_EAS=0.1938;gnomAD_genome_FIN=0.1898;gnomAD_genome_NFE=0.1920;gnomAD_genome_OTH=0.1898;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1/1:62:0,62 . . 1:113:0,47 . 1:103:0,42 . . 1:95:0,50 . . . 1:122:0,68 1:117:0,64 . 1/1:96:0,96 . 1/1:105:0,105 1:99:0,53 . 1:78:0,38 . . . . . 1:109:0,62 . . . . . 1:97:0,42 . . 1:94:0,38 1:94:0,48 1:81:0,40 . 1:118:0,48 . . 1 26392785 rs34009998 G A 200.00 . #_unique_end_positions=,56;#_unique_start_positions=,48;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0015;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0014;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.29;CAF_dbsnp_common_v150_hg19_refseq=,0.9994|0.000599;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_032588.3:c.306C>T;Coding_region_change_in_longest_transcript=,NM_032588.3:c.306C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,106;GENEINFO_dbsnp_common_v150_hg19_refseq=,TRIM63:84676;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84676;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84676;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:16007;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:16007;Homo_sapiens_refseq_GRCh37.p13_Genes=,TRIM63;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_032588.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene598;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna980;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:606131;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:606131;Non-synonymous=,No;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene598;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,26392785;RS_dbsnp_common_v150_hg19_refseq=,34009998;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,86;Read_coverage=,182;Read_direction_test_probability=,0.9991408681108246;Read_position_test_probability=,0.9823823733499545;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_032588.3;Reverse_read_coverage=,76;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=35;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.998317|0.00168281;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050100000305040136000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.711;db_xref=,GeneID:84676|HGNC:HGNC:16007|MIM:606131;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:05843;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_032588.3|HPRD:05843;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,tripartite_motif_containing_63;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TRIM63;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TRIM63;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,IRF|MURF1|MURF2|RNF28|SMRZ;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,tripartite_motif_containing_63;transcript_id=,NM_032588.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TRIM63;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TRIM63:NM_032588:exon2:c.C306T:p.I102I;cytoBand=1p36.11;genomicSuperDups=.;esp6500siv2_all=0.0016;esp6500siv2_ea=0.0001;esp6500siv2_all=0.0016;esp6500siv2_ea=0.0001;1000g2015aug_all=0.000599042;avsnp147=rs34009998;Kaviar_AF=0.0003363;Kaviar_AC=52;Kaviar_AN=154602;ExAC_ALL=0.0004;ExAC_AFR=0.0033;ExAC_AMR=0.0004;ExAC_EAS=0.0001;ExAC_FIN=0;ExAC_NFE=6.004e-05;ExAC_OTH=0.0011;ExAC_SAS=0.0002;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-4.4290;dpsi_zscore=-2.414;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0003;gnomAD_exome_AFR=0.0029;gnomAD_exome_AMR=0.0002;gnomAD_exome_ASJ=0.0001;gnomAD_exome_EAS=5.798e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=7.166e-05;gnomAD_exome_OTH=0.0005;gnomAD_exome_SAS=0.0001;gnomAD_genome_ALL=0.0008;gnomAD_genome_AFR=0.0028;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:163:0,76 . . . . . . 1 26392798 . A T 200.00 . #_unique_end_positions=,52;#_unique_start_positions=,43;AC=1;AN=1;Amino_acid_change=,NP_115977.2:p.Val98Glu;Amino_acid_change_in_longest_transcript=,NP_115977.2:p.Val98Glu;BaseQRankSum=,0.01;Coding_region_change=,NM_032588.3:c.293T>A;Coding_region_change_in_longest_transcript=,NM_032588.3:c.293T>A;Forward_read_coverage=,86;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84676;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84676;Genotype=,A/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:16007;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:16007;Homo_sapiens_refseq_GRCh37.p13_Genes=,TRIM63;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_032588.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene598;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna980;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:606131;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:606131;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene598;QUAL=,200.0;Read_count=,79;Read_coverage=,173;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9989037628560128;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_032588.3;Reverse_read_coverage=,87;SF=30;conservation_score=,1.0;db_xref=,GeneID:84676|HGNC:HGNC:16007|MIM:606131;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:05843;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_032588.3|HPRD:05843;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,tripartite_motif_containing_63;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TRIM63;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TRIM63;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,IRF|MURF1|MURF2|RNF28|SMRZ;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,tripartite_motif_containing_63;transcript_id=,NM_032588.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TRIM63;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TRIM63:NM_032588:exon2:c.T293A:p.V98E;cytoBand=1p36.11;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs760144364;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=8.248e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.501e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=0.997;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.973;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.78;MutationAssessor_pred=M;FATHMM_score=2.23;FATHMM_pred=T;PROVEAN_score=-5.99;PROVEAN_pred=D;VEST3_score=0.972;CADD_raw=7.079;CADD_phred=33;DANN_score=0.991;fathmm-MKL_coding_score=0.988;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.840;MetaSVM_pred=T;MetaLR_score=0.141;MetaLR_pred=T;integrated_fitCons_score=0.497;integrated_confidence_value=0;GERP++_RS=5.64;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.088;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=15.532;GDI_full_10282015=.;dpsi_max_tissue=-0.2423;dpsi_zscore=-0.763;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=8.125e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=1.792e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=7 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:150:0,67 . . . . . . . . . . . 1 26392824 rs35123100 C A 200.00 . #_unique_end_positions=,47;#_unique_start_positions=,49;AC=5;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0030;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0288;AN=5;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.32;CAF_dbsnp_common_v150_hg19_refseq=,0.9816|0.01837;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_032588.3:c.267G>T;Coding_region_change_in_longest_transcript=,NM_032588.3:c.267G>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0646;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,84;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TRIM63:84676;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84676;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84676;Genotype=,A/C;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:16007;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:16007;Homo_sapiens_refseq_GRCh37.p13_Genes=,TRIM63;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_032588.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene598;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna980;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:606131;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:606131;Non-synonymous=,No;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene598;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,26392824;RS_dbsnp_common_v150_hg19_refseq=,35123100;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,90;Read_coverage=,195;Read_direction_test_probability=,0.9105376873882018;Read_position_test_probability=,0.9883710914189832;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_032588.3;Reverse_read_coverage=,111;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0031;SF=12,19,33,35,36;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.953877|0.0461227;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050100000305150536000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.994;db_xref=,GeneID:84676|HGNC:HGNC:16007|MIM:606131;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:05843;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_032588.3|HPRD:05843;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,tripartite_motif_containing_63;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TRIM63;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TRIM63;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,IRF|MURF1|MURF2|RNF28|SMRZ;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,tripartite_motif_containing_63;transcript_id=,NM_032588.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TRIM63;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TRIM63:NM_032588:exon2:c.G267T:p.V89V;cytoBand=1p36.11;genomicSuperDups=.;esp6500siv2_all=0.0611;esp6500siv2_ea=0.0844;esp6500siv2_all=0.0611;esp6500siv2_ea=0.0844;1000g2015aug_all=0.0183706;avsnp147=rs35123100;Kaviar_AF=0.0555814;Kaviar_AC=8593;Kaviar_AN=154602;ExAC_ALL=0.0529;ExAC_AFR=0.0135;ExAC_AMR=0.0286;ExAC_EAS=0;ExAC_FIN=0.0604;ExAC_NFE=0.0801;ExAC_OTH=0.0509;ExAC_SAS=0.0102;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.1961;dpsi_zscore=-1.577;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0545;gnomAD_exome_AFR=0.0126;gnomAD_exome_AMR=0.0300;gnomAD_exome_ASJ=0.0541;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0655;gnomAD_exome_NFE=0.0864;gnomAD_exome_OTH=0.0498;gnomAD_exome_SAS=0.0105;gnomAD_genome_ALL=0.0659;gnomAD_genome_AFR=0.0140;gnomAD_genome_AMR=0.0322;gnomAD_genome_ASJ=0.0596;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0698;gnomAD_genome_NFE=0.1033;gnomAD_genome_OTH=0.0825;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . . . . 1:172:0,77 . . . . . . 1:161:0,87 . . . . . . . . . . . . . 1:163:0,80 . 1:159:0,80 1:137:0,61 . . . . . 1 26393851 rs61760891 C G 200.00 . #_unique_end_positions=,68;#_unique_start_positions=,55;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0014;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.02;CAF_dbsnp_common_v150_hg19_refseq=,0.9972|0.002796|.;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_032588.3:c.135G>C;Coding_region_change_in_longest_transcript=,NM_032588.3:c.135G>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0119;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,120;GENEINFO_dbsnp_common_v150_hg19_refseq=,TRIM63:84676;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84676;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84676;Genotype=,C/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:16007;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:16007;Homo_sapiens_refseq_GRCh37.p13_Genes=,TRIM63;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_032588.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene598;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna980;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:606131;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:606131;Non-synonymous=,No;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene598;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,26393851;RS_dbsnp_common_v150_hg19_refseq=,61760891;Read_count=,121;Read_coverage=,252;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9543077476360202;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_032588.3;Reverse_read_coverage=,132;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;SF=14;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.996188|0.00381208|.;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050100000305040036000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:84676|HGNC:HGNC:16007|MIM:606131;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:05843;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_032588.3|HPRD:05843;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,tripartite_motif_containing_63;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TRIM63;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TRIM63;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,IRF|MURF1|MURF2|RNF28|SMRZ;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,tripartite_motif_containing_63;transcript_id=,NM_032588.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TRIM63;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TRIM63:NM_032588:exon1:c.G135C:p.R45R;cytoBand=1p36.11;genomicSuperDups=.;esp6500siv2_all=0.0053;esp6500siv2_ea=0.0073;esp6500siv2_all=0.0053;esp6500siv2_ea=0.0073;1000g2015aug_all=0.00279553;avsnp147=rs61760891;Kaviar_AF=0.0066623;Kaviar_AC=1030;Kaviar_AN=154602;ExAC_ALL=0.0067;ExAC_AFR=0.0014;ExAC_AMR=0.0014;ExAC_EAS=0.0001;ExAC_FIN=0.0165;ExAC_NFE=0.0087;ExAC_OTH=0.0077;ExAC_SAS=0.0051;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0068;gnomAD_exome_AFR=0.0010;gnomAD_exome_AMR=0.0018;gnomAD_exome_ASJ=0.0122;gnomAD_exome_EAS=5.798e-05;gnomAD_exome_FIN=0.0170;gnomAD_exome_NFE=0.0082;gnomAD_exome_OTH=0.0073;gnomAD_exome_SAS=0.0049;gnomAD_genome_ALL=0.0072;gnomAD_genome_AFR=0.0009;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0132;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0129;gnomAD_genome_NFE=0.0099;gnomAD_genome_OTH=0.0183;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:DP:CLCAD2 . . . . . . . . . . . . . . 1:225:0,108 . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 74929170 rs3737564 T C 200.00 . #_unique_end_positions=,25;#_unique_start_positions=,23;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0030;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0130;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_057062.1:p.Ile686Thr|_NP_001106279.2:p.Ile800Thr|_NP_001186256.2:p.Ile800Thr;Amino_acid_change_in_longest_transcript=,NP_001106279.2:p.Ile800Thr;BaseQRankSum=,0.4;CAF_dbsnp_common_v150_hg19_refseq=,0.979|0.02097;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001112808.2:c.2399T>C|_NM_001199327.1:c.2399T>C|_NM_015978.2:c.2057T>C;Coding_region_change_in_longest_transcript=,NM_001112808.2:c.2399T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0486;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0080;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,40;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TNNI3K:51086|FPGT-TNNI3K:100526835;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:100526835|GeneID:51086;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:100526835|GeneID:51086;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:42952|HGNC:HGNC:19661;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:42952|HGNC:HGNC:19661;Homo_sapiens_refseq_GRCh37.p13_Genes=,FPGT-TNNI3K|TNNI3K;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001199327.1|NM_001112808.2|NM_015978.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene1412|gene1414;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna2351|rna2350|rna2355;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:613932;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:613932;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene1412|gene1414;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,74929170;RS_dbsnp_common_v150_hg19_refseq=,3737564;Read_count=,39;Read_coverage=,82;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.7773618209702073;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001199327.1|NM_001112808.2|NM_015978.2;Reverse_read_coverage=,42;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0358;SF=9;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.991449|0.00855141;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050300000a05150537000101;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.0102041;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.0243902;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.0411765;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.0397727;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0697674;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0232558;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.0408163;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:100526835|HGNC:HGNC:42952|GeneID:51086|HGNC:HGNC:19661|MIM:613932;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:18208;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001199327.1|Genbank:NM_001112808.2|Genbank:NM_015978.2|HPRD:18208;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,FPGT-TNNI3K_readthrough|TNNI3_interacting_kinase;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,FPGT-TNNI3K|TNNI3K;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,FPGT-TNNI3K|TNNI3K;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CARK|CCDD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,FPGT-TNNI3K_readthrough|_transcript_variant_2|FPGT-TNNI3K_readthrough|_transcript_variant_1|TNNI3_interacting_kinase;transcript_id=,NM_001199327.1|NM_001112808.2|NM_015978.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FPGT-TNNI3K,TNNI3K;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TNNI3K:NM_015978:exon21:c.T2057C:p.I686T,FPGT-TNNI3K:NM_001112808:exon23:c.T2399C:p.I800T,FPGT-TNNI3K:NM_001199327:exon23:c.T2399C:p.I800T;cytoBand=1p31.1;genomicSuperDups=.;esp6500siv2_all=0.0041;esp6500siv2_ea=0.0037;esp6500siv2_all=0.0041;esp6500siv2_ea=0.0037;1000g2015aug_all=0.0209665;avsnp147=rs3737564;Kaviar_AF=0.015058;Kaviar_AC=2328;Kaviar_AN=154602;ExAC_ALL=0.0169;ExAC_AFR=0.0061;ExAC_AMR=0.0302;ExAC_EAS=0.0441;ExAC_FIN=0.0219;ExAC_NFE=0.0060;ExAC_OTH=0.0220;ExAC_SAS=0.0415;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.677;SIFT_pred=T;Polyphen2_HDIV_score=0.763;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.272;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=2.24;MutationAssessor_pred=M;FATHMM_score=-1.52;FATHMM_pred=D;PROVEAN_score=1.58;PROVEAN_pred=N;VEST3_score=0.732;CADD_raw=4.228;CADD_phred=23.9;DANN_score=0.997;fathmm-MKL_coding_score=0.977;fathmm-MKL_coding_pred=D;MetaSVM_score=0.007;MetaSVM_pred=D;MetaLR_score=0.428;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.91;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=1.061;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=0.999;SiPhy_29way_logOdds=16.002;GDI_full_10282015=.;dpsi_max_tissue=0.8770;dpsi_zscore=1.442;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0170;gnomAD_exome_AFR=0.0065;gnomAD_exome_AMR=0.0272;gnomAD_exome_ASJ=0.0083;gnomAD_exome_EAS=0.0430;gnomAD_exome_FIN=0.0209;gnomAD_exome_NFE=0.0050;gnomAD_exome_OTH=0.0188;gnomAD_exome_SAS=0.0401;gnomAD_genome_ALL=0.0097;gnomAD_genome_AFR=0.0064;gnomAD_genome_AMR=0.0287;gnomAD_genome_ASJ=0.0067;gnomAD_genome_EAS=0.0359;gnomAD_genome_FIN=0.0200;gnomAD_genome_NFE=0.0046;gnomAD_genome_OTH=0.0214;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:DP:CLCAD2 . . . . . . . . . 1:69:0,33 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 78383653 . A C 55.35 . #_unique_end_positions=,15;#_unique_start_positions=,14;AC=1;AN=1;Amino_acid_change=,NP_653174.3:p.Glu76Asp|_NP_001165780.1:p.Glu12Asp;Amino_acid_change_in_longest_transcript=,NP_653174.3:p.Glu76Asp;BaseQRankSum=,0.45;Coding_region_change=,NM_001172309.1:c.36A>C|_NM_144573.3:c.228A>C;Coding_region_change_in_longest_transcript=,NM_144573.3:c.228A>C;Forward_read_coverage=,17;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:91624;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:91624;Genotype=,A/C;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:29557;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:29557;Homo_sapiens_refseq_GRCh37.p13_Genes=,NEXN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001172309.1|NM_144573.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene1457;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna2408|rna2407;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:613121;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:613121;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene1457;QUAL=,55.35162399489672;Read_count=,16;Read_coverage=,25;Read_direction_test_probability=,0.9714363450742711;Read_position_test_probability=,0.960076793322297;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001172309.1|NM_144573.3;Reverse_read_coverage=,8;SF=35;conservation_score=,0.995;db_xref=,GeneID:91624|HGNC:HGNC:29557|MIM:613121;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001172309.1|Genbank:NM_144573.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,nexilin_F-actin_binding_protein;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,NEXN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NEXN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMH20|NELIN;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,nexilin_F-actin_binding_protein|_transcript_variant_2|nexilin_F-actin_binding_protein|_transcript_variant_1;transcript_id=,NM_001172309.1|NM_144573.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=NEXN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=NEXN:NM_001172309:exon3:c.A36C:p.E12D,NEXN:NM_144573:exon4:c.A228C:p.E76D;cytoBand=1p31.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.205;SIFT_pred=T;Polyphen2_HDIV_score=0.002;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.009;Polyphen2_HVAR_pred=B;LRT_score=0.002;LRT_pred=N;MutationTaster_score=0.999;MutationTaster_pred=D;MutationAssessor_score=1.395;MutationAssessor_pred=L;FATHMM_score=0.08;FATHMM_pred=T;PROVEAN_score=-0.81;PROVEAN_pred=N;VEST3_score=0.201;CADD_raw=0.790;CADD_phred=9.399;DANN_score=0.986;fathmm-MKL_coding_score=0.964;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.017;MetaSVM_pred=T;MetaLR_score=0.101;MetaLR_pred=T;integrated_fitCons_score=0.706;integrated_confidence_value=0;GERP++_RS=2.02;phyloP7way_vertebrate=0.078;phyloP20way_mammalian=1.199;phastCons7way_vertebrate=0.999;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=8.536;GDI_full_10282015=.;dpsi_max_tissue=0.5810;dpsi_zscore=1.211;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:25:0,16 . . . . . . 1 78392446 47911;rs1166698 G A 102.98 . #_unique_end_positions=,20;#_unique_start_positions=,17;AC=12;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0106;AF_ESP_clinvar_20171029_hg19=,0.1578;AF_EXAC_clinvar_20171029_hg19=,0.18459;AF_TGP_clinvar_20171029_hg19=,0.1508;ALLELEID_clinvar_20171029_hg19=,57075;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1167;AN=12;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001165780.1:p.Gly181Arg|_NP_653174.3:p.Gly245Arg;Amino_acid_change_in_longest_transcript=,NP_653174.3:p.Gly245Arg;BaseQRankSum=,0.56;CAF_dbsnp_common_v150_hg19_refseq=,0.8492|0.1508;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant;CLNHGVS_clinvar_20171029_hg19=,NC_000001.10:g.78392446G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:47277|UniProtKB_(protein):Q0ZGT2#VAR_049963;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001172309.1:c.541G>A|_NM_144573.3:c.733G>A;Coding_region_change_in_longest_transcript=,NM_144573.3:c.733G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3800;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2107;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,30;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,NEXN:91624;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:91624;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:91624;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:29557;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:29557;Homo_sapiens_refseq_GRCh37.p13_Genes=,NEXN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001172309.1|NM_144573.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene1457;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna2408|rna2407;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:613121;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:613121;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene1457;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,78392446;RS_dbsnp_common_v150_hg19_refseq=,1166698;Read_count=,26;Read_coverage=,54;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.8837202655192706;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001172309.1|NM_144573.3;Reverse_read_coverage=,24;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0665;SF=0,1,2,6,8,9,10,28,34,36,40;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.865994|0.134006;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128080a0515053f000101;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.0714286;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.216667;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.439024;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.379518;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.045977;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.366667;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.422222;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.14;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.013986;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.204545;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:91624|HGNC:HGNC:29557|MIM:613121;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001172309.1|Genbank:NM_144573.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,nexilin_F-actin_binding_protein;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,NEXN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NEXN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMH20|NELIN;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,nexilin_F-actin_binding_protein|_transcript_variant_2|nexilin_F-actin_binding_protein|_transcript_variant_1;transcript_id=,NM_001172309.1|NM_144573.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=NEXN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=NEXN:NM_001172309:exon7:c.G541A:p.G181R,NEXN:NM_144573:exon8:c.G733A:p.G245R;cytoBand=1p31.1;genomicSuperDups=.;esp6500siv2_all=0.1578;esp6500siv2_ea=0.2073;esp6500siv2_all=0.1578;esp6500siv2_ea=0.2073;1000g2015aug_all=0.150759;avsnp147=rs1166698;Kaviar_AF=0.0013907;Kaviar_AC=215;Kaviar_AN=154602;ExAC_ALL=0.1846;ExAC_AFR=0.0366;ExAC_AMR=0.1428;ExAC_EAS=0.3947;ExAC_FIN=0.1704;ExAC_NFE=0.2142;ExAC_OTH=0.1737;ExAC_SAS=0.0781;CLNALLELEID=57075;CLNDN=Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.025;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=1.0;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=2.63;MutationAssessor_pred=M;FATHMM_score=-0.06;FATHMM_pred=T;PROVEAN_score=-1.41;PROVEAN_pred=N;VEST3_score=0.422;CADD_raw=5.664;CADD_phred=26.7;DANN_score=0.999;fathmm-MKL_coding_score=0.993;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.291;MetaSVM_pred=T;MetaLR_score=0.460;MetaLR_pred=T;integrated_fitCons_score=0.732;integrated_confidence_value=0;GERP++_RS=5.64;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.925;phastCons20way_mammalian=0.986;SiPhy_29way_logOdds=19.694;GDI_full_10282015=.;dpsi_max_tissue=-0.3300;dpsi_zscore=-0.896;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1816;gnomAD_exome_AFR=0.0340;gnomAD_exome_AMR=0.1407;gnomAD_exome_ASJ=0.2171;gnomAD_exome_EAS=0.3942;gnomAD_exome_FIN=0.1628;gnomAD_exome_NFE=0.2106;gnomAD_exome_OTH=0.1837;gnomAD_exome_SAS=0.0771;gnomAD_genome_ALL=0.1653;gnomAD_genome_AFR=0.0400;gnomAD_genome_AMR=0.1671;gnomAD_genome_ASJ=0.2053;gnomAD_genome_EAS=0.3964;gnomAD_genome_FIN=0.1734;gnomAD_genome_NFE=0.2107;gnomAD_genome_OTH=0.1616;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-3 GT:DP:CLCAD2 1:48:0,25 1:38:0,24 1:22:0,14 . . . 1:27:0,18 . 1:27:0,15 1:24:0,10 1:36:0,11 . . . . . . . . . . . . . . . . . 1:42:0,24 . . . . . 1:46:0,27 . 1:31:0,16 . . . 1/1:40:0,40 . 1 78408536 298093;rs3767028 C G 41.86 . #_unique_end_positions=,3;#_unique_start_positions=,3;AC=5;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1271;AF_ESP_clinvar_20171029_hg19=,0.0890;AF_EXAC_clinvar_20171029_hg19=,0.14571;AF_TGP_clinvar_20171029_hg19=,0.1220;ALLELEID_clinvar_20171029_hg19=,281843;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1988;AN=5;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.878|0.122;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:CN239310;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Dilated_Cardiomyopathy|_Dominant;CLNHGVS_clinvar_20171029_hg19=,NC_000001.10:g.78408536C>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_single_submitter;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:1770;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001172309.1:c.*22C>G|_NM_144573.3:c.*22C>G;Coding_region_change_in_longest_transcript=,NM_144573.3:c.*22C>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0903;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0775;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,2;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,NEXN:91624;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:91624;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:91624;Genotype=,C/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:29557;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:29557;Homo_sapiens_refseq_GRCh37.p13_Genes=,NEXN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001172309.1|NM_144573.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene1457;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna2408|rna2407;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001624|3_prime_UTR_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:613121;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:613121;Non-synonymous=,-;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene1457;QUAL=,21.221132885226993;RSPOS_dbsnp_common_v150_hg19_refseq=,78408536;RS_dbsnp_common_v150_hg19_refseq=,3767028;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,3;Read_coverage=,10;Read_direction_test_probability=,0.9325034025417566;Read_position_test_probability=,0.448622115592783;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001172309.1|NM_144573.3;Reverse_read_coverage=,8;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1391;SF=7,14,19,31,36;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.899615|0.100385;U3_dbsnp_common_v150_hg19_refseq=,U3;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128880005150537000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0258621;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.111111;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0681818;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0932203;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.001;db_xref=,GeneID:91624|HGNC:HGNC:29557|MIM:613121;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001172309.1|Genbank:NM_144573.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,nexilin_F-actin_binding_protein;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,NEXN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NEXN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMH20|NELIN;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,nexilin_F-actin_binding_protein|_transcript_variant_2|nexilin_F-actin_binding_protein|_transcript_variant_1;transcript_id=,NM_001172309.1|NM_144573.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR3;Gene.refGene=NEXN;GeneDetail.refGene=NM_001172309:c.*22C>G,NM_144573:c.*22C>G;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p31.1;genomicSuperDups=.;esp6500siv2_all=0.0890;esp6500siv2_ea=0.0849;esp6500siv2_all=0.0890;esp6500siv2_ea=0.0849;1000g2015aug_all=0.122005;avsnp147=rs3767028;Kaviar_AF=0.0998111;Kaviar_AC=15431;Kaviar_AN=154602;ExAC_ALL=0.1457;ExAC_AFR=0.1300;ExAC_AMR=0.3090;ExAC_EAS=0.1301;ExAC_FIN=0.2046;ExAC_NFE=0.1133;ExAC_OTH=0.1540;ExAC_SAS=0.1324;CLNALLELEID=281843;CLNDN=Hypertrophic_cardiomyopathy|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN239310;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1230;gnomAD_exome_AFR=0.1099;gnomAD_exome_AMR=0.2406;gnomAD_exome_ASJ=0.0862;gnomAD_exome_EAS=0.0930;gnomAD_exome_FIN=0.1598;gnomAD_exome_NFE=0.0854;gnomAD_exome_OTH=0.1236;gnomAD_exome_SAS=0.1199;gnomAD_genome_ALL=0.1044;gnomAD_genome_AFR=0.1060;gnomAD_genome_AMR=0.2265;gnomAD_genome_ASJ=0.0993;gnomAD_genome_EAS=0.0784;gnomAD_genome_FIN=0.1563;gnomAD_genome_NFE=0.0861;gnomAD_genome_OTH=0.1253;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 . . . . . . . 1:10:0,3 . . . . . . 1:21:0,12 . . . . 1:14:0,7 . . . . . . . . . . . 1:10:0,7 . . . . 1:17:0,6 . . . . . 1 112319658 . G C 200.00 . #_unique_end_positions=,37;#_unique_start_positions=,32;AC=1;AN=1;Amino_acid_change=,NP_751948.1:p.Leu567Val|_NP_004971.2:p.Leu586Val;Amino_acid_change_in_longest_transcript=,NP_004971.2:p.Leu586Val;BaseQRankSum=,-0.33;Coding_region_change=,NM_004980.4:c.1756C>G|_NM_172198.2:c.1699C>G;Coding_region_change_in_longest_transcript=,NM_004980.4:c.1756C>G;Forward_read_coverage=,58;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:3752;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:3752;Genotype=,C/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:6239;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:6239;Homo_sapiens_refseq_GRCh37.p13_Genes=,KCND3;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_172198.2|NM_004980.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene1869;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna2979|rna2980;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:605411;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:605411;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene1869;QUAL=,200.0;Read_count=,58;Read_coverage=,108;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9935244982315837;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_172198.2|NM_004980.4;Reverse_read_coverage=,50;SF=31;conservation_score=,1.0;db_xref=,GeneID:3752|HGNC:HGNC:6239|MIM:605411;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:16104;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_172198.2|HPRD:16104|Genbank:NM_004980.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,potassium_voltage-gated_channel_subfamily_D_member_3;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,KCND3;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,KCND3;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,BRGDA9|KCND3L|KCND3S|KSHIVB|KV4.3|SCA19|SCA22;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,potassium_voltage-gated_channel_subfamily_D_member_3|_transcript_variant_2|potassium_voltage-gated_channel_subfamily_D_member_3|_transcript_variant_1;transcript_id=,NM_172198.2|NM_004980.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KCND3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=KCND3:NM_172198:exon6:c.C1699G:p.L567V,KCND3:NM_004980:exon7:c.C1756G:p.L586V;cytoBand=1p13.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs778053688;Kaviar_AF=3.23e-05;Kaviar_AC=5;Kaviar_AN=154602;ExAC_ALL=4.127e-05;ExAC_AFR=0;ExAC_AMR=0.0003;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.5e-05;ExAC_OTH=0;ExAC_SAS=6.062e-05;CLNALLELEID=509061;CLNDN=Cardiovascular_phenotype;CLNDISDB=MedGen:CN230736;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.231;SIFT_pred=T;Polyphen2_HDIV_score=0.027;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.016;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.998;MutationTaster_pred=D;MutationAssessor_score=1.24;MutationAssessor_pred=L;FATHMM_score=-4.13;FATHMM_pred=D;PROVEAN_score=-0.08;PROVEAN_pred=N;VEST3_score=0.144;CADD_raw=2.131;CADD_phred=17.06;DANN_score=0.974;fathmm-MKL_coding_score=0.993;fathmm-MKL_coding_pred=D;MetaSVM_score=0.186;MetaSVM_pred=D;MetaLR_score=0.687;MetaLR_pred=D;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.37;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=0.999;SiPhy_29way_logOdds=12.114;GDI_full_10282015=.;dpsi_max_tissue=2.5519;dpsi_zscore=2.131;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.474e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0001;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=5.388e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=3.249e-05;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=7 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:95:0,49 . . . . . . . . . . 1 112524680 240084;rs17215423 C G 200.00 . #_unique_end_positions=,67;#_unique_start_positions=,50;AC=3;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0023;AF_ESP_clinvar_20171029_hg19=,0.0138;AF_EXAC_clinvar_20171029_hg19=,0.01399;AF_TGP_clinvar_20171029_hg19=,0.0082;ALLELEID_clinvar_20171029_hg19=,238121;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0173;AN=3;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.3;CAF_dbsnp_common_v150_hg19_refseq=,0.9918|0.008187|.;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1846367|OMIM:607346|Orphanet:ORPHA98772|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Spinocerebellar_ataxia_19|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000001.10:g.112524680C>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_004980.4:c.669G>C|_NM_172198.2:c.669G>C;Coding_region_change_in_longest_transcript=,NM_004980.4:c.669G>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0258;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,113;GENEINFO_dbsnp_common_v150_hg19_refseq=,KCND3:3752;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:3752;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:3752;Genotype=,C/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:6239;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:6239;Homo_sapiens_refseq_GRCh37.p13_Genes=,KCND3;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_172198.2|NM_004980.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene1869;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna2979|rna2980;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:605411;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:605411;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene1869;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,112524680;RS_dbsnp_common_v150_hg19_refseq=,17215423;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,117;Read_coverage=,257;Read_direction_test_probability=,0.9977543127701078;Read_position_test_probability=,0.2975014933590846;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_172198.2|NM_004980.4;Reverse_read_coverage=,144;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=16,31,36;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.989251|0.0107494|.;TPA_dbsnp_common_v150_hg19_refseq=,TPA;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050110000305040536000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.994;db_xref=,GeneID:3752|HGNC:HGNC:6239|MIM:605411;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:16104;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_172198.2|HPRD:16104|Genbank:NM_004980.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,potassium_voltage-gated_channel_subfamily_D_member_3;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,KCND3;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,KCND3;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,BRGDA9|KCND3L|KCND3S|KSHIVB|KV4.3|SCA19|SCA22;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,potassium_voltage-gated_channel_subfamily_D_member_3|_transcript_variant_2|potassium_voltage-gated_channel_subfamily_D_member_3|_transcript_variant_1;transcript_id=,NM_172198.2|NM_004980.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KCND3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCND3:NM_004980:exon2:c.G669C:p.S223S,KCND3:NM_172198:exon2:c.G669C:p.S223S;cytoBand=1p13.2;genomicSuperDups=.;esp6500siv2_all=0.0138;esp6500siv2_ea=0.0186;esp6500siv2_all=0.0138;esp6500siv2_ea=0.0186;1000g2015aug_all=0.0081869;avsnp147=rs17215423;Kaviar_AF=0.0141395;Kaviar_AC=2186;Kaviar_AN=154602;ExAC_ALL=0.0140;ExAC_AFR=0.0029;ExAC_AMR=0.0108;ExAC_EAS=0;ExAC_FIN=0.0265;ExAC_NFE=0.0201;ExAC_OTH=0.0135;ExAC_SAS=0.0014;CLNALLELEID=238121;CLNDN=Spinocerebellar_ataxia_19|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1846367,OMIM:607346,Orphanet:ORPHA98772|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0108;dpsi_zscore=-0.043;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0139;gnomAD_exome_AFR=0.0026;gnomAD_exome_AMR=0.0096;gnomAD_exome_ASJ=0.0013;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0250;gnomAD_exome_NFE=0.0214;gnomAD_exome_OTH=0.0141;gnomAD_exome_SAS=0.0011;gnomAD_genome_ALL=0.0185;gnomAD_genome_AFR=0.0044;gnomAD_genome_AMR=0.0120;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0347;gnomAD_genome_NFE=0.0253;gnomAD_genome_OTH=0.0256;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . 1:226:0,103 . . . . . . . . . . . . . . 1:108:0,58 . . . . 1:236:0,128 . . . . . 1 112525085 129314;rs17221819 G A 194.22 . #_unique_end_positions=,71;#_unique_start_positions=,52;AC=8;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0356;AF_ESP_clinvar_20171029_hg19=,0.0953;AF_EXAC_clinvar_20171029_hg19=,0.08861;AF_TGP_clinvar_20171029_hg19=,0.0471;ALLELEID_clinvar_20171029_hg19=,134760;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0519;AN=8;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.46;CAF_dbsnp_common_v150_hg19_refseq=,0.9529|0.04712;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000001.10:g.112525085G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_004980.4:c.264C>T|_NM_172198.2:c.264C>T;Coding_region_change_in_longest_transcript=,NM_004980.4:c.264C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0020;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1034;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,109;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,KCND3:3752;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:3752;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:3752;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:6239;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:6239;Homo_sapiens_refseq_GRCh37.p13_Genes=,KCND3;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_172198.2|NM_004980.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene1869;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna2979|rna2980;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:605411;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:605411;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene1869;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,112525085;RS_dbsnp_common_v150_hg19_refseq=,17221819;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,107;Read_coverage=,205;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.996807551324128;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_172198.2|NM_004980.4;Reverse_read_coverage=,96;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0481;SF=6,7,8,10,15,21,32;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.921045|0.0789546;TPA_dbsnp_common_v150_hg19_refseq=,TPA;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05037800030515053f100100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.0408163;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.137168;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.0909091;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.0449438;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.08;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.0244755;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.0738636;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0176991;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.04;db_xref=,GeneID:3752|HGNC:HGNC:6239|MIM:605411;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:16104;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_172198.2|HPRD:16104|Genbank:NM_004980.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,potassium_voltage-gated_channel_subfamily_D_member_3;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,KCND3;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,KCND3;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,BRGDA9|KCND3L|KCND3S|KSHIVB|KV4.3|SCA19|SCA22;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,potassium_voltage-gated_channel_subfamily_D_member_3|_transcript_variant_2|potassium_voltage-gated_channel_subfamily_D_member_3|_transcript_variant_1;transcript_id=,NM_172198.2|NM_004980.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KCND3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCND3:NM_004980:exon2:c.C264T:p.P88P,KCND3:NM_172198:exon2:c.C264T:p.P88P;cytoBand=1p13.2;genomicSuperDups=.;esp6500siv2_all=0.0953;esp6500siv2_ea=0.1205;esp6500siv2_all=0.0953;esp6500siv2_ea=0.1205;1000g2015aug_all=0.0471246;avsnp147=rs17221819;Kaviar_AF=0.0906068;Kaviar_AC=14008;Kaviar_AN=154602;ExAC_ALL=0.0886;ExAC_AFR=0.0455;ExAC_AMR=0.0394;ExAC_EAS=0.0008;ExAC_FIN=0.0677;ExAC_NFE=0.1233;ExAC_OTH=0.0918;ExAC_SAS=0.0639;CLNALLELEID=134760;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0437;dpsi_zscore=0.269;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0844;gnomAD_exome_AFR=0.0461;gnomAD_exome_AMR=0.0411;gnomAD_exome_ASJ=0.0745;gnomAD_exome_EAS=0.0009;gnomAD_exome_FIN=0.0663;gnomAD_exome_NFE=0.1253;gnomAD_exome_OTH=0.0856;gnomAD_exome_SAS=0.0653;gnomAD_genome_ALL=0.0818;gnomAD_genome_AFR=0.0451;gnomAD_genome_AMR=0.0501;gnomAD_genome_ASJ=0.0695;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0636;gnomAD_genome_NFE=0.1178;gnomAD_genome_OTH=0.0898;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . 1:185:0,99 1:215:0,94 1:266:0,143 . 1:291:0,138 . . . . 1:299:0,147 . . . . . 1:294:0,144 . . . . . . . . . . 1/1:258:0,258 . . . . . . . . . 1 115252280 40476;rs143020946 C T 149.55 . #_unique_end_positions=,19;#_unique_start_positions=,14;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0004;AF_EXAC_clinvar_20171029_hg19=,0.00026;AF_TGP_clinvar_20171029_hg19=,0.0002;ALLELEID_clinvar_20171029_hg19=,48946;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AN=1;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN166718|Orphanet:ORPHA98733|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Rasopathy|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000001.10:g.115252280C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;Coding_region_change=,NM_002524.4:c.360G>A;Coding_region_change_in_longest_transcript=,NM_002524.4:c.360G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;Exact_match=,clinvar_20171029_hg19|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,28;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:4893;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:4893;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:7989;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:7989;Homo_sapiens_refseq_GRCh37.p13_Genes=,NRAS;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_002524.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene1922;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna3071;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:164790;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:164790;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene1922;QUAL=,149.54589770191004;Read_count=,25;Read_coverage=,54;Read_direction_test_probability=,0.999275977819647;Read_position_test_probability=,0.8587924774806788;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_002524.4;Reverse_read_coverage=,26;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=27;conservation_score=,1.0;db_xref=,GeneID:4893|HGNC:HGNC:7989|MIM:164790;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:01273;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_002524.4|HPRD:01273;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,neuroblastoma_RAS_viral_oncogene_homolog;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,NRAS;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NRAS;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ALPS4|CMNS|N-ras|NCMS|NRAS1|NS6;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,neuroblastoma_RAS_viral_oncogene_homolog;transcript_id=,NM_002524.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=NRAS;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=NRAS:NM_002524:exon4:c.G360A:p.L120L;cytoBand=1p13.2;genomicSuperDups=.;esp6500siv2_all=0.0004;esp6500siv2_ea=0.0006;esp6500siv2_all=0.0004;esp6500siv2_ea=0.0006;1000g2015aug_all=0.000199681;avsnp147=rs143020946;Kaviar_AF=0.0002911;Kaviar_AC=45;Kaviar_AN=154602;ExAC_ALL=0.0003;ExAC_AFR=0;ExAC_AMR=8.643e-05;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0005;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=48946;CLNDN=Rasopathy|not_specified|not_provided;CLNDISDB=MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.3545;dpsi_zscore=0.965;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0003;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0003;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0006;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0003;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0005;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:47:0,21 . . . . . . . . . . . . . . 1 116243868 44159;rs28730711 A G 102.98 . #_unique_end_positions=,16;#_unique_start_positions=,15;AC=6;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0015;AF_ESP_clinvar_20171029_hg19=,0.0441;AF_EXAC_clinvar_20171029_hg19=,0.05421;AF_TGP_clinvar_20171029_hg19=,0.0310;ALLELEID_clinvar_20171029_hg19=,53327;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0865;AN=6;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.37;CAF_dbsnp_common_v150_hg19_refseq=,0.969|0.03095;CLNDISDB_clinvar_20171029_hg19=,MedGen:C0027794|OMIM:182940|SNOMED_CT:253098009|MedGen:C1631597|Orphanet:ORPHA3286|MedGen:C1838569|MedGen:CN169374|MedGen:CN230736;CLNDN_clinvar_20171029_hg19=,Neural_tube_defect|Catecholaminergic_polymorphic_ventricular_tachycardia|Caudal_dysgenesis_syndrome|not_specified|Cardiovascular_phenotype;CLNHGVS_clinvar_20171029_hg19=,NC_000001.10:g.116243868A>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:47532;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001232.3:c.1194T>C;Coding_region_change_in_longest_transcript=,NM_001232.3:c.1194T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0537;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,17;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,CASQ2:845;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:845;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:845;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:1513;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:1513;Homo_sapiens_refseq_GRCh37.p13_Genes=,CASQ2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001232.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene1936;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna3095;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:114251;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:114251;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene1936;QUAL=,87.62325815761676;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,116243868;RS_dbsnp_common_v150_hg19_refseq=,28730711;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,18;Read_coverage=,32;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9642867662321735;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001232.3;Reverse_read_coverage=,15;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0399;SF=4,6,31,35,36,40;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.958582|0.0414177;TPA_dbsnp_common_v150_hg19_refseq=,TPA;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050138000305150536000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.929;db_xref=,GeneID:845|HGNC:HGNC:1513|MIM:114251;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001232.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,calsequestrin_2;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CASQ2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,CASQ2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,PDIB2;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,calsequestrin_2;transcript_id=,NM_001232.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CASQ2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CASQ2:NM_001232:exon11:c.T1194C:p.D398D;cytoBand=1p13.1;genomicSuperDups=.;esp6500siv2_all=0.0441;esp6500siv2_ea=0.0614;esp6500siv2_all=0.0441;esp6500siv2_ea=0.0614;1000g2015aug_all=0.0309505;avsnp147=rs28730711;Kaviar_AF=0.0529683;Kaviar_AC=8189;Kaviar_AN=154602;ExAC_ALL=0.0542;ExAC_AFR=0.0104;ExAC_AMR=0.0976;ExAC_EAS=0.0001;ExAC_FIN=0.0463;ExAC_NFE=0.0638;ExAC_OTH=0.0540;ExAC_SAS=0.0442;CLNALLELEID=53327;CLNDN=Neural_tube_defect|Catecholaminergic_polymorphic_ventricular_tachycardia|Caudal_dysgenesis_syndrome|Ventricular_tachycardia,_catecholaminergic_polymorphic,_2|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0045005,MedGen:C0027794,OMIM:182940,SNOMED_CT:253098009|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:C1838569|MedGen:C2677794,OMIM:611938|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0568;gnomAD_exome_AFR=0.0092;gnomAD_exome_AMR=0.1039;gnomAD_exome_ASJ=0.0598;gnomAD_exome_EAS=5.802e-05;gnomAD_exome_FIN=0.0458;gnomAD_exome_NFE=0.0631;gnomAD_exome_OTH=0.0623;gnomAD_exome_SAS=0.0445;gnomAD_genome_ALL=0.0474;gnomAD_genome_AFR=0.0112;gnomAD_genome_AMR=0.0911;gnomAD_genome_ASJ=0.0464;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0498;gnomAD_genome_NFE=0.0689;gnomAD_genome_OTH=0.0714;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . 1:28:0,16 . 1:31:0,14 . . . . . . . . . . . . . . . . . . . . . . . . 1:23:0,10 . . . 1:40:0,17 1:40:0,25 . . . 1:43:0,24 . 1 116243877 44157;rs7413162 G A 148.10 . #_unique_end_positions=,48;#_unique_start_positions=,41;AC=45;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4599;AF_ESP_clinvar_20171029_hg19=,0.3880;AF_EXAC_clinvar_20171029_hg19=,0.38379;AF_TGP_clinvar_20171029_hg19=,0.4257;ALLELEID_clinvar_20171029_hg19=,53325;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4640;AN=45;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.25;CAF_dbsnp_common_v150_hg19_refseq=,0.5743|0.4257;CLNDISDB_clinvar_20171029_hg19=,MedGen:C0027794|OMIM:182940|SNOMED_CT:253098009|MedGen:C1631597|Orphanet:ORPHA3286|MedGen:C1838569|MedGen:CN169374|MedGen:CN230736;CLNDN_clinvar_20171029_hg19=,Neural_tube_defect|Catecholaminergic_polymorphic_ventricular_tachycardia|Caudal_dysgenesis_syndrome|not_specified|Cardiovascular_phenotype;CLNHGVS_clinvar_20171029_hg19=,NC_000001.10:g.116243877G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:2479;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001232.3:c.1185C>T;Coding_region_change_in_longest_transcript=,NM_001232.3:c.1185C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3224;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4135;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,34;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,CASQ2:845;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:845;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:845;Genotype=,A/A;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:1513;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:1513;Homo_sapiens_refseq_GRCh37.p13_Genes=,CASQ2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001232.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene1936;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna3095;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:114251;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:114251;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene1936;QUAL=,154.7746851547134;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,116243877;RS_dbsnp_common_v150_hg19_refseq=,7413162;Read_count=,64;Read_coverage=,65;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9999999733243617;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001232.3;Reverse_read_coverage=,31;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4714;SF=0,1,5,7,8,9,11,12,13,14,15,16,17,18,20,21,22,23,24,25,26,28,29,32,33,34,35,36,37,38,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.588124|0.411876;TPA_dbsnp_common_v150_hg19_refseq=,TPA;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05013800030517053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.469388;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.362832;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.292683;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.270588;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.517045;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.348837;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.464286;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.416667;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.479592;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.601399;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.482955;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.464602;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.535;db_xref=,GeneID:845|HGNC:HGNC:1513|MIM:114251;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001232.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,calsequestrin_2;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CASQ2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,CASQ2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,PDIB2;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,calsequestrin_2;transcript_id=,NM_001232.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CASQ2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CASQ2:NM_001232:exon11:c.C1185T:p.D395D;cytoBand=1p13.1;genomicSuperDups=.;esp6500siv2_all=0.3880;esp6500siv2_ea=0.3573;esp6500siv2_all=0.3880;esp6500siv2_ea=0.3573;1000g2015aug_all=0.425719;avsnp147=rs7413162;Kaviar_AF=0.0005692;Kaviar_AC=88;Kaviar_AN=154602;ExAC_ALL=0.3838;ExAC_AFR=0.4558;ExAC_AMR=0.4505;ExAC_EAS=0.3005;ExAC_FIN=0.4079;ExAC_NFE=0.3619;ExAC_OTH=0.3943;ExAC_SAS=0.4128;CLNALLELEID=53325;CLNDN=Neural_tube_defect|Catecholaminergic_polymorphic_ventricular_tachycardia|Caudal_dysgenesis_syndrome|Ventricular_tachycardia,_catecholaminergic_polymorphic,_2|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0045005,MedGen:C0027794,OMIM:182940,SNOMED_CT:253098009|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:C1838569|MedGen:C2677794,OMIM:611938|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3813;gnomAD_exome_AFR=0.4508;gnomAD_exome_AMR=0.4390;gnomAD_exome_ASJ=0.4048;gnomAD_exome_EAS=0.2922;gnomAD_exome_FIN=0.3947;gnomAD_exome_NFE=0.3548;gnomAD_exome_OTH=0.4042;gnomAD_exome_SAS=0.4085;gnomAD_genome_ALL=0.3862;gnomAD_genome_AFR=0.4462;gnomAD_genome_AMR=0.4400;gnomAD_genome_ASJ=0.3867;gnomAD_genome_EAS=0.2512;gnomAD_genome_FIN=0.3959;gnomAD_genome_NFE=0.3609;gnomAD_genome_OTH=0.3822;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1/1:56:0,55 1:37:0,16 . . . 1/1:51:0,51 . 1:38:0,18 1:27:0,12 1/1:35:0,35 . 1/1:51:0,50 1/1:47:0,47 1:42:0,22 1/1:75:0,73 1:41:0,22 1/1:36:0,36 1:62:0,41 1/1:43:0,43 . 1:57:0,29 1:64:0,34 1/1:65:0,64 1/1:49:0,46 1:49:0,28 1:34:0,15 1:48:0,27 . 1:62:0,30 1:64:0,30 . . 1/1:51:0,51 1:46:0,22 1:42:0,16 1:39:0,19 1:40:0,15 1:34:0,18 1/1:38:0,37 1:38:0,21 1:46:0,18 1:56:0,23 1 116310937 44162;rs10801999 C T 101.44 . #_unique_end_positions=,13;#_unique_start_positions=,10;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0015;AF_ESP_clinvar_20171029_hg19=,0.0015;AF_EXAC_clinvar_20171029_hg19=,0.02506;AF_TGP_clinvar_20171029_hg19=,0.0304;ALLELEID_clinvar_20171029_hg19=,53330;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0980;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001223.2:p.Val76Met;Amino_acid_change_in_longest_transcript=,NP_001223.2:p.Val76Met;BaseQRankSum=,-0.25;CAF_dbsnp_common_v150_hg19_refseq=,0.9696|0.03035;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1631597|Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736;CLNDN_clinvar_20171029_hg19=,Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype;CLNHGVS_clinvar_20171029_hg19=,NC_000001.10:g.116310937C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:78500|UniProtKB_(protein):O14958#VAR_023693;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001232.3:c.226G>A;Coding_region_change_in_longest_transcript=,NM_001232.3:c.226G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0605;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0030;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,19;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,CASQ2:845;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:845;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:845;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:1513;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:1513;Homo_sapiens_refseq_GRCh37.p13_Genes=,CASQ2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001232.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene1936;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna3095;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:114251;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:114251;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene1936;QUAL=,101.44244323422926;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,116310937;RS_dbsnp_common_v150_hg19_refseq=,10801999;Read_count=,17;Read_coverage=,30;Read_direction_test_probability=,0.9263384009561371;Read_position_test_probability=,0.9181846166669899;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001232.3;Reverse_read_coverage=,11;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0184;SF=25;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.991346|0.00865444;TPA_dbsnp_common_v150_hg19_refseq=,TPA;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050338000a05150537000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.0609756;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.0647059;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.0227273;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0444444;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0777778;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.859;db_xref=,GeneID:845|HGNC:HGNC:1513|MIM:114251;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001232.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,calsequestrin_2;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CASQ2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,CASQ2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,PDIB2;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,calsequestrin_2;transcript_id=,NM_001232.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CASQ2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CASQ2:NM_001232:exon1:c.G226A:p.V76M;cytoBand=1p13.1;genomicSuperDups=.;esp6500siv2_all=0.0015;esp6500siv2_ea=0.0007;esp6500siv2_all=0.0015;esp6500siv2_ea=0.0007;1000g2015aug_all=0.0303514;avsnp147=rs10801999;Kaviar_AF=0.0231821;Kaviar_AC=3584;Kaviar_AN=154602;ExAC_ALL=0.0251;ExAC_AFR=0.0023;ExAC_AMR=0.1672;ExAC_EAS=0.0653;ExAC_FIN=0.0237;ExAC_NFE=0.0023;ExAC_OTH=0.0198;ExAC_SAS=0.0116;CLNALLELEID=53330;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|Ventricular_tachycardia,_catecholaminergic_polymorphic,_2|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:C2677794,OMIM:611938|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.445;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=1.79;MutationAssessor_pred=L;FATHMM_score=-1.08;FATHMM_pred=T;PROVEAN_score=-0.69;PROVEAN_pred=N;VEST3_score=0.564;CADD_raw=4.845;CADD_phred=24.8;DANN_score=0.998;fathmm-MKL_coding_score=0.971;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.053;MetaSVM_pred=T;MetaLR_score=0.534;MetaLR_pred=D;integrated_fitCons_score=0.497;integrated_confidence_value=0;GERP++_RS=5.49;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.892;phastCons7way_vertebrate=0.956;phastCons20way_mammalian=0.907;SiPhy_29way_logOdds=19.369;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0318;gnomAD_exome_AFR=0.0024;gnomAD_exome_AMR=0.1595;gnomAD_exome_ASJ=0.0001;gnomAD_exome_EAS=0.0666;gnomAD_exome_FIN=0.0261;gnomAD_exome_NFE=0.0014;gnomAD_exome_OTH=0.0296;gnomAD_exome_SAS=0.0124;gnomAD_genome_ALL=0.0126;gnomAD_genome_AFR=0.0039;gnomAD_genome_AMR=0.1268;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0.0623;gnomAD_genome_FIN=0.0241;gnomAD_genome_NFE=0.0025;gnomAD_genome_OTH=0.0265;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . 1:28:0,15 . . . . . . . . . . . . . . . . 1 116310967 44160;rs4074536 T C 141.88 . #_unique_end_positions=,21;#_unique_start_positions=,19;AC=28;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4856;AF_ESP_clinvar_20171029_hg19=,0.3394;AF_EXAC_clinvar_20171029_hg19=,0.32650;AF_TGP_clinvar_20171029_hg19=,0.4012;ALLELEID_clinvar_20171029_hg19=,53328;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3674;AN=28;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001223.2:p.Thr66Ala;Amino_acid_change_in_longest_transcript=,NP_001223.2:p.Thr66Ala;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.5988|0.4012;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1631597|Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736;CLNDN_clinvar_20171029_hg19=,Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype;CLNHGVS_clinvar_20171029_hg19=,NC_000001.10:g.116310967T>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:2219|UniProtKB_(protein):O14958#VAR_023692;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001232.3:c.196A>G;Coding_region_change_in_longest_transcript=,NM_001232.3:c.196A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5159;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2922;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,29;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,CASQ2:845;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:845;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:845;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:1513;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:1513;Homo_sapiens_refseq_GRCh37.p13_Genes=,CASQ2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001232.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene1936;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna3095;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:114251;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:114251;MTP_dbsnp_common_v150_hg19_refseq=,MTP;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene1936;QUAL=,87.86993453933476;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,116310967;RS_dbsnp_common_v150_hg19_refseq=,4074536;Read_count=,25;Read_coverage=,41;Read_direction_test_probability=,0.9804866897244193;Read_position_test_probability=,0.9839779296322794;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001232.3;Reverse_read_coverage=,12;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3047;SF=0,1,2,5,7,8,9,11,13,14,16,18,23,25,26,27,28,29,32,34,36,37,38;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.614225|0.385775;TPA_dbsnp_common_v150_hg19_refseq=,TPA;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050338000a0517053f020101;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.44898;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.29646;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.585366;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.552941;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.289773;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.395349;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.47093;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.555556;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.32;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.381119;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.397727;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.513274;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.001;db_xref=,GeneID:845|HGNC:HGNC:1513|MIM:114251;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001232.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,calsequestrin_2;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CASQ2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,CASQ2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,PDIB2;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,calsequestrin_2;transcript_id=,NM_001232.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CASQ2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CASQ2:NM_001232:exon1:c.A196G:p.T66A;cytoBand=1p13.1;genomicSuperDups=.;esp6500siv2_all=0.3394;esp6500siv2_ea=0.2891;esp6500siv2_all=0.3394;esp6500siv2_ea=0.2891;1000g2015aug_all=0.401158;avsnp147=rs4074536;Kaviar_AF=0.320132;Kaviar_AC=49493;Kaviar_AN=154602;ExAC_ALL=0.3265;ExAC_AFR=0.4538;ExAC_AMR=0.3635;ExAC_EAS=0.5483;ExAC_FIN=0.2731;ExAC_NFE=0.2837;ExAC_OTH=0.3040;ExAC_SAS=0.2999;CLNALLELEID=53328;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|Ventricular_tachycardia,_catecholaminergic_polymorphic,_2|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:C2677794,OMIM:611938|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.943;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.025;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.7;MutationAssessor_pred=N;FATHMM_score=1.18;FATHMM_pred=T;PROVEAN_score=0.49;PROVEAN_pred=N;VEST3_score=0.011;CADD_raw=-1.622;CADD_phred=0.002;DANN_score=0.183;fathmm-MKL_coding_score=0.077;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.939;MetaSVM_pred=T;MetaLR_score=0.006;MetaLR_pred=T;integrated_fitCons_score=0.497;integrated_confidence_value=0;GERP++_RS=3.44;phyloP7way_vertebrate=-2.525;phyloP20way_mammalian=-0.462;phastCons7way_vertebrate=0.858;phastCons20way_mammalian=0.003;SiPhy_29way_logOdds=8.620;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM108210#"QRS_interval_association_with";gnomAD_exome_ALL=0.3281;gnomAD_exome_AFR=0.4565;gnomAD_exome_AMR=0.3604;gnomAD_exome_ASJ=0.2596;gnomAD_exome_EAS=0.5498;gnomAD_exome_FIN=0.2770;gnomAD_exome_NFE=0.2901;gnomAD_exome_OTH=0.3256;gnomAD_exome_SAS=0.3019;gnomAD_genome_ALL=0.3281;gnomAD_genome_AFR=0.4433;gnomAD_genome_AMR=0.3513;gnomAD_genome_ASJ=0.2583;gnomAD_genome_EAS=0.5479;gnomAD_genome_FIN=0.2668;gnomAD_genome_NFE=0.2547;gnomAD_genome_OTH=0.2912;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:37:0,23 1:44:0,14 1:42:0,16 . . 1:44:0,17 . 1:46:0,26 1:65:0,32 1/1:51:0,51 . 1/1:51:0,51 . 1:50:0,29 1:80:0,33 . 1/1:41:0,41 . 1:38:0,16 . . . . 1:60:0,29 . 1:36:0,17 1:52:0,16 1:69:0,32 1/1:62:0,62 1:52:0,20 . . 1/1:39:0,39 . 1:50:0,19 . 1:31:0,13 1:47:0,18 1:42:0,21 . . . 1 147230978 292449;rs2232191 G A 200.00 . #_unique_end_positions=,41;#_unique_start_positions=,48;AC=2;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0044;AF_EXAC_clinvar_20171029_hg19=,0.00900;AF_TGP_clinvar_20171029_hg19=,0.0164;ALLELEID_clinvar_20171029_hg19=,276314;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0086;AN=2;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.16;CAF_dbsnp_common_v150_hg19_refseq=,0.9836|0.01637;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN204347|Orphanet:ORPHA334;CLNDN_clinvar_20171029_hg19=,Familial_atrial_fibrillation;CLNHGVS_clinvar_20171029_hg19=,NC_000001.10:g.147230978G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_single_submitter;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:887984;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_005266.6:c.369C>T|_NM_181703.3:c.369C>T;Coding_region_change_in_longest_transcript=,NM_005266.6:c.369C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0556;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0060;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,80;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,GJA5:2702;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:2702;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:2702;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:4279;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:4279;Homo_sapiens_refseq_GRCh37.p13_Genes=,GJA5;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_181703.3|NM_005266.6;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene2098;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna3289|rna3288;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:121013;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:121013;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_3_substitutions|_1_non-frameshifting_indel_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene2098;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,147230978;RS_dbsnp_common_v150_hg19_refseq=,2232191;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,85;Read_coverage=,158;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9505410224626197;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_181703.3|NM_005266.6;Reverse_read_coverage=,78;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0143;SF=9,14;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TPA_dbsnp_common_v150_hg19_refseq=,TPA;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05023800030515053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0555556;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0444444;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.00561798;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.0;db_xref=,GeneID:2702|HGNC:HGNC:4279|MIM:121013;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:08699;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_181703.3|HPRD:08699|Genbank:NM_005266.6;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gap_junction_protein_alpha_5;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GJA5;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GJA5;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ATFB11|CX40;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gap_junction_protein_alpha_5|_transcript_variant_B|gap_junction_protein_alpha_5|_transcript_variant_A;transcript_id=,NM_181703.3|NM_005266.6;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GJA5;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GJA5:NM_005266:exon2:c.C369T:p.Y123Y,GJA5:NM_181703:exon2:c.C369T:p.Y123Y;cytoBand=1q21.2;genomicSuperDups=.;esp6500siv2_all=0.0044;esp6500siv2_ea=0.0064;esp6500siv2_all=0.0044;esp6500siv2_ea=0.0064;1000g2015aug_all=0.0163738;avsnp147=rs2232191;Kaviar_AF=0.0088162;Kaviar_AC=1363;Kaviar_AN=154602;ExAC_ALL=0.0090;ExAC_AFR=0.0004;ExAC_AMR=0.0054;ExAC_EAS=0.0469;ExAC_FIN=0.0011;ExAC_NFE=0.0069;ExAC_OTH=0.0099;ExAC_SAS=0.0085;CLNALLELEID=276314;CLNDN=Atrial_standstill_1|Atrial_fibrillation,_familial,_11|Familial_atrial_fibrillation;CLNDISDB=MedGen:C1838539,OMIM:108770|MedGen:C3279693,OMIM:614049|MedGen:CN204347,Orphanet:ORPHA334;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0091;gnomAD_exome_AFR=0.0008;gnomAD_exome_AMR=0.0065;gnomAD_exome_ASJ=0.0146;gnomAD_exome_EAS=0.0482;gnomAD_exome_FIN=0.0010;gnomAD_exome_NFE=0.0065;gnomAD_exome_OTH=0.0058;gnomAD_exome_SAS=0.0081;gnomAD_genome_ALL=0.0055;gnomAD_genome_AFR=0.0003;gnomAD_genome_AMR=0.0060;gnomAD_genome_ASJ=0.0132;gnomAD_genome_EAS=0.0488;gnomAD_genome_FIN=0.0011;gnomAD_genome_NFE=0.0047;gnomAD_genome_OTH=0.0041;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . 1:133:0,70 . . . . 1:214:0,107 . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 156084760 36479;rs11549668 C T 200.00 . #_unique_end_positions=,56;#_unique_start_positions=,50;AC=5;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0008;AF_ESP_clinvar_20171029_hg19=,0.0095;AF_EXAC_clinvar_20171029_hg19=,0.02399;AF_TGP_clinvar_20171029_hg19=,0.0068;ALLELEID_clinvar_20171029_hg19=,45141;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0187;AN=5;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.09;CAF_dbsnp_common_v150_hg19_refseq=,0.9932|0.006789;CLNDISDB_clinvar_20171029_hg19=,MedGen:C0007193|Orphanet:ORPHA217604|SNOMED_CT:195021004|MedGen:C0033300|OMIM:176670|Orphanet:ORPHA740|SNOMED_CT:238870004|MedGen:C0271694|Orphanet:ORPHA98306|SNOMED_CT:49292002|MedGen:C0406585|OMIM:275210|Orphanet:ORPHA1662|SNOMED_CT:400128006|MedGen:C0410189|Orphanet:ORPHA261|SNOMED_CT:111508004|MedGen:C2750785|OMIM:613205|Orphanet:ORPHA157973|MedGen:CN043576|MedGen:CN118835|MedGen:CN169374|MedGen:CN230736|MedGen:CN239171|MedGen:CN239184|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNDN_clinvar_20171029_hg19=,Primary_dilated_cardiomyopathy|Hutchinson-Gilford_syndrome|Familial_partial_lipodystrophy|Lethal_tight_skin_contracture_syndrome|Emery-Dreifuss_muscular_dystrophy|Congenital_muscular_dystrophy|_LMNA-related|Charcot-Marie-Tooth_disease|_type_2|Mandibuloacral_dysplasia|not_specified|Cardiovascular_phenotype|Charcot-Marie-Tooth|_Type_2|Lipoatrophy_with_Diabetes|_Hepatic_Steatosis|_Hypertrophic_Cardiomyopathy|_and_Leukomelanodermic_Papules|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive|not_provided;CLNHGVS_clinvar_20171029_hg19=,NC_000001.10:g.156084760C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:96155;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001282625.1:c.51C>T|_NM_001282626.1:c.51C>T|_NM_005572.3:c.51C>T|_NM_170707.3:c.51C>T|_NM_170708.3:c.51C>T;Coding_region_change_in_longest_transcript=,NM_170707.3:c.51C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0139;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,128;GENEINFO_dbsnp_common_v150_hg19_refseq=,LMNA:4000;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:4000;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:4000;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:6636;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:6636;Homo_sapiens_refseq_GRCh37.p13_Genes=,LMNA;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001282625.1|NM_005572.3|NM_170708.3|NM_001282626.1|NM_170707.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene2489;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna3944|rna3948|rna3947|rna3946|rna3945;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:150330;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:150330;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene2489;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,156084760;RS_dbsnp_common_v150_hg19_refseq=,11549668;Read_count=,109;Read_coverage=,164;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9460166258201885;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001282625.1|NM_005572.3|NM_170708.3|NM_001282626.1|NM_170707.3;Reverse_read_coverage=,36;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0061;SF=5,7,15,22,34;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.992994|0.00700598;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050168000305040136100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:4000|HGNC:HGNC:6636|MIM:150330;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:01035;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001282625.1|HPRD:01035|Genbank:NM_005572.3|Genbank:NM_170708.3|Genbank:NM_001282626.1|Genbank:NM_170707.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lamin_A/C;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LMNA;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,LMNA;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CDCD1|CDDC|CMD1A|CMT2B1|EMD2|FPL|FPLD|FPLD2|HGPS|IDC|LDP1|LFP|LGMD1B|LMN1|LMNC|LMNL1|MADA|PRO1;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,lamin_A/C|_transcript_variant_6|lamin_A/C|_transcript_variant_2|lamin_A/C|_transcript_variant_3|lamin_A/C|_transcript_variant_7|lamin_A/C|_transcript_variant_1;transcript_id=,NM_001282625.1|NM_005572.3|NM_170708.3|NM_001282626.1|NM_170707.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LMNA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LMNA:NM_001282626:exon1:c.C51T:p.S17S,LMNA:NM_005572:exon1:c.C51T:p.S17S,LMNA:NM_170707:exon1:c.C51T:p.S17S,LMNA:NM_170708:exon1:c.C51T:p.S17S,LMNA:NM_001282625:exon4:c.C51T:p.S17S;cytoBand=1q22;genomicSuperDups=.;esp6500siv2_all=0.0095;esp6500siv2_ea=0.0126;esp6500siv2_all=0.0095;esp6500siv2_ea=0.0126;1000g2015aug_all=0.00678914;avsnp147=rs11549668;Kaviar_AF=0.0088873;Kaviar_AC=1374;Kaviar_AN=154602;ExAC_ALL=0.0240;ExAC_AFR=0.0092;ExAC_AMR=0.0370;ExAC_EAS=0.0005;ExAC_FIN=0.0243;ExAC_NFE=0.0371;ExAC_OTH=0.0265;ExAC_SAS=0.0061;CLNALLELEID=45141;CLNDN=Primary_dilated_cardiomyopathy|Hutchinson-Gilford_syndrome|Familial_partial_lipodystrophy|Lethal_tight_skin_contracture_syndrome|Emery-Dreifuss_muscular_dystrophy|Congenital_muscular_dystrophy,_LMNA-related|Charcot-Marie-Tooth_disease,_type_2|Mandibuloacral_dysplasia|not_specified|Cardiovascular_phenotype|Charcot-Marie-Tooth,_Type_2|Lipoatrophy_with_Diabetes,_Hepatic_Steatosis,_Hypertrophic_Cardiomyopathy,_and_Leukomelanodermic_Papules|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:C0033300,OMIM:176670,Orphanet:ORPHA740,SNOMED_CT:238870004|MedGen:C0271694,Orphanet:ORPHA98306,SNOMED_CT:49292002|MedGen:C0406585,OMIM:275210,Orphanet:ORPHA1662,SNOMED_CT:400128006|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C2750785,OMIM:613205,Orphanet:ORPHA157973|MedGen:CN043576|MedGen:CN118835|MedGen:CN169374|MedGen:CN230736|MedGen:CN239171|MedGen:CN239184|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1720;dpsi_zscore=-0.630;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0105;gnomAD_exome_AFR=0.0033;gnomAD_exome_AMR=0.0138;gnomAD_exome_ASJ=0.0172;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0049;gnomAD_exome_NFE=0.0141;gnomAD_exome_OTH=0.0138;gnomAD_exome_SAS=0.0042;gnomAD_genome_ALL=0.0080;gnomAD_genome_AFR=0.0026;gnomAD_genome_AMR=0.0227;gnomAD_genome_ASJ=0.0166;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0040;gnomAD_genome_NFE=0.0116;gnomAD_genome_OTH=0.0122;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 . . . . . 1:152:0,100 . 1:139:0,54 . . . . . . . 1:187:0,88 . . . . . . 1:186:0,87 . . . . . . . . . . . 1:148:0,73 . . . . . . . 1 156096532 rs182588937 C T 49.05 . #_unique_end_positions=,9;#_unique_start_positions=,8;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0014;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.9982|0.001797;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001257374.2:c.20+518C>T|_NM_001282624.1:c.-62C>T|_NM_001282625.1:c.357-3876C>T|_NM_001282626.1:c.357-3876C>T|_NM_005572.3:c.357-3876C>T|_NM_170707.3:c.357-3876C>T|_NM_170708.3:c.357-3876C>T;Coding_region_change_in_longest_transcript=,NM_170707.3:c.357-3876C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0030;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,14;GENEINFO_dbsnp_common_v150_hg19_refseq=,LMNA:4000;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:4000;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:4000;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:6636;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:6636;Homo_sapiens_refseq_GRCh37.p13_Genes=,LMNA;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001282624.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene2489;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna3950;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:150330;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:150330;Non-synonymous=,-;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene2489;QUAL=,49.04881170270083;RSPOS_dbsnp_common_v150_hg19_refseq=,156096532;RS_dbsnp_common_v150_hg19_refseq=,182588937;Read_count=,9;Read_coverage=,29;Read_direction_test_probability=,0.7704590259207544;Read_position_test_probability=,0.767428481803349;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001282624.1;Reverse_read_coverage=,15;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0051;SF=0;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.998695|0.00130503;U5_dbsnp_common_v150_hg19_refseq=,U5;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050100480005040036000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.028;db_xref=,GeneID:4000|HGNC:HGNC:6636|MIM:150330;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:01035;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001282624.1|HPRD:01035;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lamin_A/C;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LMNA;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,LMNA;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CDCD1|CDDC|CMD1A|CMT2B1|EMD2|FPL|FPLD|FPLD2|HGPS|IDC|LDP1|LFP|LGMD1B|LMN1|LMNC|LMNL1|MADA|PRO1;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,lamin_A/C|_transcript_variant_5;transcript_id=,NM_001282624.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR5;Gene.refGene=LMNA;GeneDetail.refGene=NM_001282624:c.-62C>T;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q22;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.00179712;avsnp147=rs182588937;Kaviar_AF=0.000401;Kaviar_AC=62;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.2899;dpsi_zscore=0.876;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.0014;gnomAD_genome_AFR=0.0009;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0014;gnomAD_genome_NFE=0.0020;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:DP:CLCAD2 1:28:0,9 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 156104292 48071;rs12117552 G A 200.00 . #_unique_end_positions=,36;#_unique_start_positions=,34;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0057;AF_EXAC_clinvar_20171029_hg19=,0.00972;AF_TGP_clinvar_20171029_hg19=,0.0080;ALLELEID_clinvar_20171029_hg19=,57235;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0029;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.05;CAF_dbsnp_common_v150_hg19_refseq=,0.992|0.007987;CLNDISDB_clinvar_20171029_hg19=,MedGen:C0033300|OMIM:176670|Orphanet:ORPHA740|SNOMED_CT:238870004|MedGen:C0271694|Orphanet:ORPHA98306|SNOMED_CT:49292002|MedGen:C0406585|OMIM:275210|Orphanet:ORPHA1662|SNOMED_CT:400128006|MedGen:C0410189|Orphanet:ORPHA261|SNOMED_CT:111508004|MedGen:C2750785|OMIM:613205|Orphanet:ORPHA157973|MedGen:CN043576|MedGen:CN118835|MedGen:CN169374|MedGen:CN230736|MedGen:CN239171|MedGen:CN239184|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNDN_clinvar_20171029_hg19=,Hutchinson-Gilford_syndrome|Familial_partial_lipodystrophy|Lethal_tight_skin_contracture_syndrome|Emery-Dreifuss_muscular_dystrophy|Congenital_muscular_dystrophy|_LMNA-related|Charcot-Marie-Tooth_disease|_type_2|Mandibuloacral_dysplasia|not_specified|Cardiovascular_phenotype|Charcot-Marie-Tooth|_Type_2|Lipoatrophy_with_Diabetes|_Hepatic_Steatosis|_Hypertrophic_Cardiomyopathy|_and_Leukomelanodermic_Papules|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive|not_provided;CLNHGVS_clinvar_20171029_hg19=,NC_000001.10:g.156104292G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:84835;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001257374.2:c.276G>A|_NM_001282624.1:c.369G>A|_NM_001282625.1:c.612G>A|_NM_001282626.1:c.612G>A|_NM_005572.3:c.612G>A|_NM_170707.3:c.612G>A|_NM_170708.3:c.612G>A;Coding_region_change_in_longest_transcript=,NM_170707.3:c.612G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0089;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,40;GENEINFO_dbsnp_common_v150_hg19_refseq=,LMNA:4000;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:4000;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:4000;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:6636;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:6636;Homo_sapiens_refseq_GRCh37.p13_Genes=,LMNA;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001282625.1|NM_005572.3|NM_170708.3|NM_001282626.1|NM_170707.3|NM_001282624.1|NM_001257374.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene2489;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna3944|rna3948|rna3947|rna3946|rna3945|rna3950|rna3949;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:150330;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:150330;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene2489;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,156104292;RS_dbsnp_common_v150_hg19_refseq=,12117552;Read_count=,56;Read_coverage=,98;Read_direction_test_probability=,0.9877799849215666;Read_position_test_probability=,0.9129557984964098;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001282625.1|NM_005572.3|NM_170708.3|NM_001282626.1|NM_170707.3|NM_001282624.1|NM_001257374.2;Reverse_read_coverage=,58;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0297;SF=37;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.99502|0.00497974;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05016800030504053f100100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.00442478;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.0113636;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.01;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.0034965;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.0284091;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:4000|HGNC:HGNC:6636|MIM:150330;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:01035;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001282625.1|HPRD:01035|Genbank:NM_005572.3|Genbank:NM_170708.3|Genbank:NM_001282626.1|Genbank:NM_170707.3|Genbank:NM_001282624.1|Genbank:NM_001257374.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lamin_A/C;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LMNA;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,LMNA;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CDCD1|CDDC|CMD1A|CMT2B1|EMD2|FPL|FPLD|FPLD2|HGPS|IDC|LDP1|LFP|LGMD1B|LMN1|LMNC|LMNL1|MADA|PRO1;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,lamin_A/C|_transcript_variant_6|lamin_A/C|_transcript_variant_2|lamin_A/C|_transcript_variant_3|lamin_A/C|_transcript_variant_7|lamin_A/C|_transcript_variant_1|lamin_A/C|_transcript_variant_5|lamin_A/C|_transcript_variant_4;transcript_id=,NM_001282625.1|NM_005572.3|NM_170708.3|NM_001282626.1|NM_170707.3|NM_001282624.1|NM_001257374.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LMNA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LMNA:NM_001257374:exon3:c.G276A:p.L92L,LMNA:NM_001282626:exon3:c.G612A:p.L204L,LMNA:NM_005572:exon3:c.G612A:p.L204L,LMNA:NM_170707:exon3:c.G612A:p.L204L,LMNA:NM_170708:exon3:c.G612A:p.L204L,LMNA:NM_001282624:exon4:c.G369A:p.L123L,LMNA:NM_001282625:exon6:c.G612A:p.L204L;cytoBand=1q22;genomicSuperDups=.;esp6500siv2_all=0.0057;esp6500siv2_ea=0.0073;esp6500siv2_all=0.0057;esp6500siv2_ea=0.0073;1000g2015aug_all=0.00798722;avsnp147=rs12117552;Kaviar_AF=0.0089973;Kaviar_AC=1391;Kaviar_AN=154602;ExAC_ALL=0.0097;ExAC_AFR=0.0017;ExAC_AMR=0.0035;ExAC_EAS=0.0001;ExAC_FIN=0.0115;ExAC_NFE=0.0088;ExAC_OTH=0.0088;ExAC_SAS=0.0270;CLNALLELEID=57235;CLNDN=Hutchinson-Gilford_syndrome|Familial_partial_lipodystrophy|Lethal_tight_skin_contracture_syndrome|Emery-Dreifuss_muscular_dystrophy|Congenital_muscular_dystrophy,_LMNA-related|Charcot-Marie-Tooth_disease,_type_2|Mandibuloacral_dysplasia|not_specified|Cardiovascular_phenotype|Charcot-Marie-Tooth,_Type_2|Lipoatrophy_with_Diabetes,_Hepatic_Steatosis,_Hypertrophic_Cardiomyopathy,_and_Leukomelanodermic_Papules|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=MedGen:C0033300,OMIM:176670,Orphanet:ORPHA740,SNOMED_CT:238870004|MedGen:C0271694,Orphanet:ORPHA98306,SNOMED_CT:49292002|MedGen:C0406585,OMIM:275210,Orphanet:ORPHA1662,SNOMED_CT:400128006|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C2750785,OMIM:613205,Orphanet:ORPHA157973|MedGen:CN043576|MedGen:CN118835|MedGen:CN169374|MedGen:CN230736|MedGen:CN239171|MedGen:CN239184|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.4509;dpsi_zscore=-1.041;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0098;gnomAD_exome_AFR=0.0018;gnomAD_exome_AMR=0.0033;gnomAD_exome_ASJ=0.0228;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0.0105;gnomAD_exome_NFE=0.0083;gnomAD_exome_OTH=0.0098;gnomAD_exome_SAS=0.0268;gnomAD_genome_ALL=0.0060;gnomAD_genome_AFR=0.0027;gnomAD_genome_AMR=0.0048;gnomAD_genome_ASJ=0.0265;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0086;gnomAD_genome_NFE=0.0075;gnomAD_genome_OTH=0.0061;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-4 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:87:0,49 . . . . 1 156104981 . G A 200.00 . #_unique_end_positions=,57;#_unique_start_positions=,47;AC=1;AN=1;Amino_acid_change=,NP_733821.1:p.Asp272Asn|_NP_001244303.1:p.Asp160Asn|_NP_005563.1:p.Asp272Asn|_NP_733822.1:p.Asp272Asn|_NP_001269554.1:p.Asp272Asn|_NP_001269553.1:p.Asp191Asn|_NP_001269555.1:p.Asp272Asn;Amino_acid_change_in_longest_transcript=,NP_733821.1:p.Asp272Asn;BaseQRankSum=,-0.37;Coding_region_change=,NM_001257374.2:c.478G>A|_NM_001282624.1:c.571G>A|_NM_001282625.1:c.814G>A|_NM_001282626.1:c.814G>A|_NM_005572.3:c.814G>A|_NM_170707.3:c.814G>A|_NM_170708.3:c.814G>A;Coding_region_change_in_longest_transcript=,NM_170707.3:c.814G>A;Forward_read_coverage=,170;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:4000;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:4000;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:6636;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:6636;Homo_sapiens_refseq_GRCh37.p13_Genes=,LMNA;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001282625.1|NM_005572.3|NM_170708.3|NM_001282626.1|NM_170707.3|NM_001282624.1|NM_001257374.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene2489;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna3944|rna3948|rna3947|rna3946|rna3945|rna3950|rna3949;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:150330;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:150330;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene2489;QUAL=,200.0;Read_count=,124;Read_coverage=,259;Read_direction_test_probability=,0.9863884382325281;Read_position_test_probability=,0.8197534647432888;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001282625.1|NM_005572.3|NM_170708.3|NM_001282626.1|NM_170707.3|NM_001282624.1|NM_001257374.2;Reverse_read_coverage=,89;SF=28;conservation_score=,1.0;db_xref=,GeneID:4000|HGNC:HGNC:6636|MIM:150330;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:01035;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001282625.1|HPRD:01035|Genbank:NM_005572.3|Genbank:NM_170708.3|Genbank:NM_001282626.1|Genbank:NM_170707.3|Genbank:NM_001282624.1|Genbank:NM_001257374.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lamin_A/C;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LMNA;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,LMNA;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CDCD1|CDDC|CMD1A|CMT2B1|EMD2|FPL|FPLD|FPLD2|HGPS|IDC|LDP1|LFP|LGMD1B|LMN1|LMNC|LMNL1|MADA|PRO1;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,lamin_A/C|_transcript_variant_6|lamin_A/C|_transcript_variant_2|lamin_A/C|_transcript_variant_3|lamin_A/C|_transcript_variant_7|lamin_A/C|_transcript_variant_1|lamin_A/C|_transcript_variant_5|lamin_A/C|_transcript_variant_4;transcript_id=,NM_001282625.1|NM_005572.3|NM_170708.3|NM_001282626.1|NM_170707.3|NM_001282624.1|NM_001257374.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LMNA;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LMNA:NM_001257374:exon5:c.G478A:p.D160N,LMNA:NM_001282626:exon5:c.G814A:p.D272N,LMNA:NM_005572:exon5:c.G814A:p.D272N,LMNA:NM_170707:exon5:c.G814A:p.D272N,LMNA:NM_170708:exon5:c.G814A:p.D272N,LMNA:NM_001282624:exon6:c.G571A:p.D191N,LMNA:NM_001282625:exon8:c.G814A:p.D272N;cytoBand=1q22;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.077;SIFT_pred=T;Polyphen2_HDIV_score=0.992;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.967;Polyphen2_HVAR_pred=D;LRT_score=0.001;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=0.73;MutationAssessor_pred=N;FATHMM_score=-2.38;FATHMM_pred=D;PROVEAN_score=-2.47;PROVEAN_pred=N;VEST3_score=0.339;CADD_raw=5.091;CADD_phred=25.3;DANN_score=0.999;fathmm-MKL_coding_score=0.988;fathmm-MKL_coding_pred=D;MetaSVM_score=0.363;MetaSVM_pred=D;MetaLR_score=0.642;MetaLR_pred=D;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=5.3;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.987;phastCons20way_mammalian=0.995;SiPhy_29way_logOdds=16.810;GDI_full_10282015=.;dpsi_max_tissue=-2.7617;dpsi_zscore=-2.100;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=10 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:235:0,107 . . . . . . . . . . . . . 1 156105028 48088;rs538089 T C 200.00 . #_unique_end_positions=,35;#_unique_start_positions=,35;AC=9;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5242;AF_ESP_clinvar_20171029_hg19=,0.1978;AF_EXAC_clinvar_20171029_hg19=,0.10943;AF_TGP_clinvar_20171029_hg19=,0.1931;ALLELEID_clinvar_20171029_hg19=,57252;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0850;AN=9;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.04;CAF_dbsnp_common_v150_hg19_refseq=,0.8069|0.1931;CLNDISDB_clinvar_20171029_hg19=,MedGen:C0033300|OMIM:176670|Orphanet:ORPHA740|SNOMED_CT:238870004|MedGen:C0271694|Orphanet:ORPHA98306|SNOMED_CT:49292002|MedGen:C0406585|OMIM:275210|Orphanet:ORPHA1662|SNOMED_CT:400128006|MedGen:C0410189|Orphanet:ORPHA261|SNOMED_CT:111508004|MedGen:C2750785|OMIM:613205|Orphanet:ORPHA157973|MedGen:CN118835|MedGen:CN169374|MedGen:CN230736|MedGen:CN239171|MedGen:CN239184|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNDN_clinvar_20171029_hg19=,Hutchinson-Gilford_syndrome|Familial_partial_lipodystrophy|Lethal_tight_skin_contracture_syndrome|Emery-Dreifuss_muscular_dystrophy|Congenital_muscular_dystrophy|_LMNA-related|Mandibuloacral_dysplasia|not_specified|Cardiovascular_phenotype|Charcot-Marie-Tooth|_Type_2|Lipoatrophy_with_Diabetes|_Hepatic_Steatosis|_Hypertrophic_Cardiomyopathy|_and_Leukomelanodermic_Papules|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive|not_provided;CLNHGVS_clinvar_20171029_hg19=,NC_000001.10:g.156105028T>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:59869;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001257374.2:c.525T>C|_NM_001282624.1:c.618T>C|_NM_001282625.1:c.861T>C|_NM_001282626.1:c.861T>C|_NM_005572.3:c.861T>C|_NM_170707.3:c.861T>C|_NM_170708.3:c.861T>C;Coding_region_change_in_longest_transcript=,NM_170707.3:c.861T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0228;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0865;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,75;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,LMNA:4000;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:4000;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:4000;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:6636;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:6636;Homo_sapiens_refseq_GRCh37.p13_Genes=,LMNA;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001282625.1|NM_005572.3|NM_170708.3|NM_001282626.1|NM_170707.3|NM_001282624.1|NM_001257374.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene2489;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna3944|rna3948|rna3947|rna3946|rna3945|rna3950|rna3949;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:150330;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:150330;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene2489;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,156105028;RS_dbsnp_common_v150_hg19_refseq=,538089;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,76;Read_coverage=,135;Read_direction_test_probability=,0.723931213609731;Read_position_test_probability=,0.9041150985392671;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001282625.1|NM_005572.3|NM_170708.3|NM_001282626.1|NM_170707.3|NM_001282624.1|NM_001257374.2;Reverse_read_coverage=,60;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1074;SF=0,1,2,16,17,22,33,36,40;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.760629|0.239371;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05016800030515053e100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.419;db_xref=,GeneID:4000|HGNC:HGNC:6636|MIM:150330;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:01035;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001282625.1|HPRD:01035|Genbank:NM_005572.3|Genbank:NM_170708.3|Genbank:NM_001282626.1|Genbank:NM_170707.3|Genbank:NM_001282624.1|Genbank:NM_001257374.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lamin_A/C;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LMNA;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,LMNA;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CDCD1|CDDC|CMD1A|CMT2B1|EMD2|FPL|FPLD|FPLD2|HGPS|IDC|LDP1|LFP|LGMD1B|LMN1|LMNC|LMNL1|MADA|PRO1;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,lamin_A/C|_transcript_variant_6|lamin_A/C|_transcript_variant_2|lamin_A/C|_transcript_variant_3|lamin_A/C|_transcript_variant_7|lamin_A/C|_transcript_variant_1|lamin_A/C|_transcript_variant_5|lamin_A/C|_transcript_variant_4;transcript_id=,NM_001282625.1|NM_005572.3|NM_170708.3|NM_001282626.1|NM_170707.3|NM_001282624.1|NM_001257374.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LMNA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LMNA:NM_001257374:exon5:c.T525C:p.A175A,LMNA:NM_001282626:exon5:c.T861C:p.A287A,LMNA:NM_005572:exon5:c.T861C:p.A287A,LMNA:NM_170707:exon5:c.T861C:p.A287A,LMNA:NM_170708:exon5:c.T861C:p.A287A,LMNA:NM_001282624:exon6:c.T618C:p.A206A,LMNA:NM_001282625:exon8:c.T861C:p.A287A;cytoBand=1q22;genomicSuperDups=.;esp6500siv2_all=0.1978;esp6500siv2_ea=0.0751;esp6500siv2_all=0.1978;esp6500siv2_ea=0.0751;1000g2015aug_all=0.193091;avsnp147=rs538089;Kaviar_AF=0.106389;Kaviar_AC=16448;Kaviar_AN=154602;ExAC_ALL=0.1094;ExAC_AFR=0.4522;ExAC_AMR=0.0621;ExAC_EAS=0.0200;ExAC_FIN=0.0560;ExAC_NFE=0.0745;ExAC_OTH=0.0982;ExAC_SAS=0.1360;CLNALLELEID=57252;CLNDN=Hutchinson-Gilford_syndrome|Familial_partial_lipodystrophy|Lethal_tight_skin_contracture_syndrome|Emery-Dreifuss_muscular_dystrophy|Congenital_muscular_dystrophy,_LMNA-related|Mandibuloacral_dysplasia|not_specified|Cardiovascular_phenotype|Charcot-Marie-Tooth,_Type_2|Lipoatrophy_with_Diabetes,_Hepatic_Steatosis,_Hypertrophic_Cardiomyopathy,_and_Leukomelanodermic_Papules|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=MedGen:C0033300,OMIM:176670,Orphanet:ORPHA740,SNOMED_CT:238870004|MedGen:C0271694,Orphanet:ORPHA98306,SNOMED_CT:49292002|MedGen:C0406585,OMIM:275210,Orphanet:ORPHA1662,SNOMED_CT:400128006|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C2750785,OMIM:613205,Orphanet:ORPHA157973|MedGen:CN118835|MedGen:CN169374|MedGen:CN230736|MedGen:CN239171|MedGen:CN239184|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.8358;dpsi_zscore=1.413;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1011;gnomAD_exome_AFR=0.4589;gnomAD_exome_AMR=0.0647;gnomAD_exome_ASJ=0.1316;gnomAD_exome_EAS=0.0192;gnomAD_exome_FIN=0.0559;gnomAD_exome_NFE=0.0722;gnomAD_exome_OTH=0.0952;gnomAD_exome_SAS=0.1378;gnomAD_genome_ALL=0.1739;gnomAD_genome_AFR=0.4433;gnomAD_genome_AMR=0.0740;gnomAD_genome_ASJ=0.1026;gnomAD_genome_EAS=0.0204;gnomAD_genome_FIN=0.0684;gnomAD_genome_NFE=0.0712;gnomAD_genome_OTH=0.0835;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-10 GT:DP:CLCAD2 1:113:0,63 1:176:0,89 1:176:0,92 . . . . . . . . . . . . . 1:214:0,94 1:215:0,105 . . . . 1:264:0,142 . . . . . . . . . . 1:164:0,84 . . 1:172:0,82 . . . 1:210:0,107 . 1 156106185 48037;rs505058 T C 200.00 . #_unique_end_positions=,55;#_unique_start_positions=,49;AC=9;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7247;AF_ESP_clinvar_20171029_hg19=,0.2541;AF_EXAC_clinvar_20171029_hg19=,0.16114;AF_TGP_clinvar_20171029_hg19=,0.2492;ALLELEID_clinvar_20171029_hg19=,57201;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0980;AN=9;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.18;CAF_dbsnp_common_v150_hg19_refseq=,0.7508|.|0.2492|.;CLNDISDB_clinvar_20171029_hg19=,MedGen:C0033300|OMIM:176670|Orphanet:ORPHA740|SNOMED_CT:238870004|MedGen:C0271694|Orphanet:ORPHA98306|SNOMED_CT:49292002|MedGen:C0406585|OMIM:275210|Orphanet:ORPHA1662|SNOMED_CT:400128006|MedGen:C0410189|Orphanet:ORPHA261|SNOMED_CT:111508004|MedGen:C2750785|OMIM:613205|Orphanet:ORPHA157973|MedGen:CN118835|MedGen:CN169374|MedGen:CN230736|MedGen:CN239171|MedGen:CN239184|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNDN_clinvar_20171029_hg19=,Hutchinson-Gilford_syndrome|Familial_partial_lipodystrophy|Lethal_tight_skin_contracture_syndrome|Emery-Dreifuss_muscular_dystrophy|Congenital_muscular_dystrophy|_LMNA-related|Mandibuloacral_dysplasia|not_specified|Cardiovascular_phenotype|Charcot-Marie-Tooth|_Type_2|Lipoatrophy_with_Diabetes|_Hepatic_Steatosis|_Hypertrophic_Cardiomyopathy|_and_Leukomelanodermic_Papules|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive|not_provided;CLNHGVS_clinvar_20171029_hg19=,NC_000001.10:g.156106185T>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,ARUP_Laboratories|_Molecular_Genetics_and_Genomics:38084|Illumina_Clinical_Services_Laboratory|Illumina:59903;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001257374.2:c.1002T>C|_NM_001282624.1:c.1095T>C|_NM_001282625.1:c.1338T>C|_NM_001282626.1:c.1338T>C|_NM_005572.3:c.1338T>C|_NM_170707.3:c.1338T>C|_NM_170708.3:c.1338T>C;Coding_region_change_in_longest_transcript=,NM_170707.3:c.1338T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0228;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0865;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,65;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,LMNA:4000;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:4000;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:4000;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:6636;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:6636;Homo_sapiens_refseq_GRCh37.p13_Genes=,LMNA;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001282625.1|NM_005572.3|NM_170708.3|NM_001282626.1|NM_170707.3|NM_001282624.1|NM_001257374.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene2489;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna3944|rna3948|rna3947|rna3946|rna3945|rna3950|rna3949;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:150330;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:150330;NOV_dbsnp_common_v150_hg19_refseq=,NOV;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene2489;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,156106185;RS_dbsnp_common_v150_hg19_refseq=,505058;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,94;Read_coverage=,177;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.996459721742456;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001282625.1|NM_005572.3|NM_170708.3|NM_001282626.1|NM_170707.3|NM_001282624.1|NM_001257374.2;Reverse_read_coverage=,112;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1145;SF=0,1,2,16,17,22,33,36,40;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.68085|.|0.31915|.;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05036800030515053f100105;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.632653;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0663717;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.0121951;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.0235294;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.107955;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0232558;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0174419;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.766667;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.0612245;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.660839;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.119318;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.730088;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.908;db_xref=,GeneID:4000|HGNC:HGNC:6636|MIM:150330;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:01035;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001282625.1|HPRD:01035|Genbank:NM_005572.3|Genbank:NM_170708.3|Genbank:NM_001282626.1|Genbank:NM_170707.3|Genbank:NM_001282624.1|Genbank:NM_001257374.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lamin_A/C;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LMNA;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,LMNA;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CDCD1|CDDC|CMD1A|CMT2B1|EMD2|FPL|FPLD|FPLD2|HGPS|IDC|LDP1|LFP|LGMD1B|LMN1|LMNC|LMNL1|MADA|PRO1;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,lamin_A/C|_transcript_variant_6|lamin_A/C|_transcript_variant_2|lamin_A/C|_transcript_variant_3|lamin_A/C|_transcript_variant_7|lamin_A/C|_transcript_variant_1|lamin_A/C|_transcript_variant_5|lamin_A/C|_transcript_variant_4;transcript_id=,NM_001282625.1|NM_005572.3|NM_170708.3|NM_001282626.1|NM_170707.3|NM_001282624.1|NM_001257374.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LMNA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LMNA:NM_001257374:exon7:c.T1002C:p.D334D,LMNA:NM_001282626:exon7:c.T1338C:p.D446D,LMNA:NM_005572:exon7:c.T1338C:p.D446D,LMNA:NM_170707:exon7:c.T1338C:p.D446D,LMNA:NM_170708:exon7:c.T1338C:p.D446D,LMNA:NM_001282624:exon8:c.T1095C:p.D365D,LMNA:NM_001282625:exon10:c.T1338C:p.D446D;cytoBand=1q22;genomicSuperDups=.;esp6500siv2_all=0.2541;esp6500siv2_ea=0.0760;esp6500siv2_all=0.2541;esp6500siv2_ea=0.0760;1000g2015aug_all=0.249201;avsnp147=rs505058;Kaviar_AF=0.120911;Kaviar_AC=18693;Kaviar_AN=154602;ExAC_ALL=0.1611;ExAC_AFR=0.6488;ExAC_AMR=0.1012;ExAC_EAS=0.0307;ExAC_FIN=0.0810;ExAC_NFE=0.0978;ExAC_OTH=0.1407;ExAC_SAS=0.1609;CLNALLELEID=57201;CLNDN=Hutchinson-Gilford_syndrome|Familial_partial_lipodystrophy|Lethal_tight_skin_contracture_syndrome|Emery-Dreifuss_muscular_dystrophy|Limb-girdle_muscular_dystrophy,_type_1B|Charcot-Marie-Tooth_disease_type_2B1|Emery-Dreifuss_muscular_dystrophy_3,_autosomal_recessive|Congenital_muscular_dystrophy,_LMNA-related|Mandibuloacral_dysplasia|not_specified|Cardiovascular_phenotype|Charcot-Marie-Tooth,_Type_2|Lipoatrophy_with_Diabetes,_Hepatic_Steatosis,_Hypertrophic_Cardiomyopathy,_and_Leukomelanodermic_Papules|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=MedGen:C0033300,OMIM:176670,Orphanet:ORPHA740,SNOMED_CT:238870004|MedGen:C0271694,Orphanet:ORPHA98306,SNOMED_CT:49292002|MedGen:C0406585,OMIM:275210,Orphanet:ORPHA1662,SNOMED_CT:400128006|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1834653,OMIM:159001,Orphanet:ORPHA264|MedGen:C1854154,OMIM:605588,Orphanet:ORPHA98856|MedGen:C2750035,OMIM:616516,Orphanet:ORPHA98855|MedGen:C2750785,OMIM:613205,Orphanet:ORPHA157973|MedGen:CN118835|MedGen:CN169374|MedGen:CN230736|MedGen:CN239171|MedGen:CN239184|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.2650;dpsi_zscore=0.838;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1150;gnomAD_exome_AFR=0.6407;gnomAD_exome_AMR=0.0743;gnomAD_exome_ASJ=0.1320;gnomAD_exome_EAS=0.0198;gnomAD_exome_FIN=0.0560;gnomAD_exome_NFE=0.0734;gnomAD_exome_OTH=0.1030;gnomAD_exome_SAS=0.1430;gnomAD_genome_ALL=0.2261;gnomAD_genome_AFR=0.6254;gnomAD_genome_AMR=0.0883;gnomAD_genome_ASJ=0.1026;gnomAD_genome_EAS=0.0198;gnomAD_genome_FIN=0.0685;gnomAD_genome_NFE=0.0717;gnomAD_genome_OTH=0.0937;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-10 GT:DP:CLCAD2 1:161:0,87 1:172:0,79 1:136:0,66 . . . . . . . . . . . . . 1:221:0,108 1:176:0,88 . . . . 1:279:0,134 . . . . . . . . . . 1:154:0,76 . . 1:131:0,60 . . . 1:188:0,94 . 1 156107534 48048;rs4641 C T 191.01 . #_unique_end_positions=,73;#_unique_start_positions=,71;AC=25;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0658;AF_ESP_clinvar_20171029_hg19=,0.1970;AF_EXAC_clinvar_20171029_hg19=,0.26551;AF_TGP_clinvar_20171029_hg19=,0.2203;ALLELEID_clinvar_20171029_hg19=,57212;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3012;AN=25;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-1.59;CAF_dbsnp_common_v150_hg19_refseq=,0.7798|0.2202;CLNDISDB_clinvar_20171029_hg19=,MedGen:C0033300|OMIM:176670|Orphanet:ORPHA740|SNOMED_CT:238870004|MedGen:C0271694|Orphanet:ORPHA98306|SNOMED_CT:49292002|MedGen:C0406585|OMIM:275210|Orphanet:ORPHA1662|SNOMED_CT:400128006|MedGen:C0410189|Orphanet:ORPHA261|SNOMED_CT:111508004|MedGen:C2750785|OMIM:613205|Orphanet:ORPHA157973|MedGen:CN118835|MedGen:CN169374|MedGen:CN230736|MedGen:CN236772|MedGen:CN239171|MedGen:CN239184|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNDN_clinvar_20171029_hg19=,Hutchinson-Gilford_syndrome|Familial_partial_lipodystrophy|Lethal_tight_skin_contracture_syndrome|Emery-Dreifuss_muscular_dystrophy|Congenital_muscular_dystrophy|_LMNA-related|Mandibuloacral_dysplasia|not_specified|Cardiovascular_phenotype|Mandibuloacral_dysplasia_with_type_A_lipodystrophy|Charcot-Marie-Tooth|_Type_2|Lipoatrophy_with_Diabetes|_Hepatic_Steatosis|_Hypertrophic_Cardiomyopathy|_and_Leukomelanodermic_Papules|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive|not_provided;CLNHGVS_clinvar_20171029_hg19=,NC_000001.10:g.156107534C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,ARUP_Laboratories|_Molecular_Genetics_and_Genomics:37137|Genomic_Research_Center|Shahid_Beheshti_University_of_Medical_Sciences:LMNA-92b|Illumina_Clinical_Services_Laboratory|Illumina:2514;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001257374.2:c.1362C>T|_NM_001282624.1:c.1455C>T|_NM_001282625.1:c.1698C>T|_NM_001282626.1:c.1698C>T|_NM_005572.3:c.1698C>T|_NM_170707.3:c.1698C>T|_NM_170708.3:c.1608+511C>T;Coding_region_change_in_longest_transcript=,NM_170707.3:c.1698C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2738;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2247;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,100;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,LMNA:4000;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:4000;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:4000;Genotype=,T/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:6636;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:6636;Homo_sapiens_refseq_GRCh37.p13_Genes=,LMNA;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001282625.1|NM_005572.3|NM_001282626.1|NM_170707.3|NM_001282624.1|NM_001257374.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene2489;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna3944|rna3948|rna3946|rna3945|rna3950|rna3949;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001627|intron_variant|SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:150330;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:150330;Non-synonymous=,No;OM_dbsnp_common_v150_hg19_refseq=,OM;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene2489;QUAL=,159.54589770191004;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,156107534;RS_dbsnp_common_v150_hg19_refseq=,4641;Read_count=,135;Read_coverage=,135;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001282625.1|NM_005572.3|NM_001282626.1|NM_170707.3|NM_001282624.1|NM_001257374.2;Reverse_read_coverage=,35;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3119;SF=3,4,8,10,11,13,16,19,21,23,24,25,27,28,31,32,35,38,39;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.799196|0.200804;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05016808030515053f110100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.0816327;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.256637;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.317073;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.329412;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.318182;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.267442;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.215116;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.0555556;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.255102;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.0454545;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.238636;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0752212;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.872;db_xref=,GeneID:4000|HGNC:HGNC:6636|MIM:150330;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:01035;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001282625.1|HPRD:01035|Genbank:NM_005572.3|Genbank:NM_001282626.1|Genbank:NM_170707.3|Genbank:NM_001282624.1|Genbank:NM_001257374.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lamin_A/C;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LMNA;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,LMNA;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CDCD1|CDDC|CMD1A|CMT2B1|EMD2|FPL|FPLD|FPLD2|HGPS|IDC|LDP1|LFP|LGMD1B|LMN1|LMNC|LMNL1|MADA|PRO1;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,lamin_A/C|_transcript_variant_6|lamin_A/C|_transcript_variant_2|lamin_A/C|_transcript_variant_7|lamin_A/C|_transcript_variant_1|lamin_A/C|_transcript_variant_5|lamin_A/C|_transcript_variant_4;transcript_id=,NM_001282625.1|NM_005572.3|NM_001282626.1|NM_170707.3|NM_001282624.1|NM_001257374.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LMNA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LMNA:NM_001257374:exon10:c.C1362T:p.H454H,LMNA:NM_001282626:exon10:c.C1698T:p.H566H,LMNA:NM_005572:exon10:c.C1698T:p.H566H,LMNA:NM_170707:exon10:c.C1698T:p.H566H,LMNA:NM_001282624:exon11:c.C1455T:p.H485H,LMNA:NM_001282625:exon13:c.C1698T:p.H566H;cytoBand=1q22;genomicSuperDups=.;esp6500siv2_all=0.1970;esp6500siv2_ea=0.2531;esp6500siv2_all=0.1970;esp6500siv2_ea=0.2531;1000g2015aug_all=0.220248;avsnp147=rs4641;Kaviar_AF=0.116195;Kaviar_AC=17964;Kaviar_AN=154602;ExAC_ALL=0.2655;ExAC_AFR=0.0998;ExAC_AMR=0.3660;ExAC_EAS=0.3081;ExAC_FIN=0.25;ExAC_NFE=0.2817;ExAC_OTH=0.3297;ExAC_SAS=0.2943;CLNALLELEID=57212;CLNDN=Hutchinson-Gilford_syndrome|Familial_partial_lipodystrophy|Lethal_tight_skin_contracture_syndrome|Emery-Dreifuss_muscular_dystrophy|Limb-girdle_muscular_dystrophy,_type_1B|Charcot-Marie-Tooth_disease_type_2B1|Emery-Dreifuss_muscular_dystrophy_3,_autosomal_recessive|Congenital_muscular_dystrophy,_LMNA-related|Mandibuloacral_dysplasia|not_specified|Cardiovascular_phenotype|Mandibuloacral_dysplasia_with_type_A_lipodystrophy|Charcot-Marie-Tooth,_Type_2|Lipoatrophy_with_Diabetes,_Hepatic_Steatosis,_Hypertrophic_Cardiomyopathy,_and_Leukomelanodermic_Papules|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=MedGen:C0033300,OMIM:176670,Orphanet:ORPHA740,SNOMED_CT:238870004|MedGen:C0271694,Orphanet:ORPHA98306,SNOMED_CT:49292002|MedGen:C0406585,OMIM:275210,Orphanet:ORPHA1662,SNOMED_CT:400128006|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1834653,OMIM:159001,Orphanet:ORPHA264|MedGen:C1854154,OMIM:605588,Orphanet:ORPHA98856|MedGen:C2750035,OMIM:616516,Orphanet:ORPHA98855|MedGen:C2750785,OMIM:613205,Orphanet:ORPHA157973|MedGen:CN118835|MedGen:CN169374|MedGen:CN230736|MedGen:CN236772|MedGen:CN239171|MedGen:CN239184|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.8285;dpsi_zscore=1.912;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM003892#"Metabolic_syndrome_association_with";gnomAD_exome_ALL=0.2634;gnomAD_exome_AFR=0.0905;gnomAD_exome_AMR=0.3240;gnomAD_exome_ASJ=0.3013;gnomAD_exome_EAS=0.2656;gnomAD_exome_FIN=0.1728;gnomAD_exome_NFE=0.2649;gnomAD_exome_OTH=0.2734;gnomAD_exome_SAS=0.2926;gnomAD_genome_ALL=0.1960;gnomAD_genome_AFR=0.0919;gnomAD_genome_AMR=0.2912;gnomAD_genome_ASJ=0.23;gnomAD_genome_EAS=0.2466;gnomAD_genome_FIN=0.1742;gnomAD_genome_NFE=0.2486;gnomAD_genome_OTH=0.2220;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-10 GT:DP:CLCAD2 . . . 1/1:125:0,125 1:110:0,51 . . . 1:145:0,63 . 1:173:0,68 1:161:0,75 . 1:157:0,81 . . 1:160:0,76 . . 1:112:0,44 . 1:173:0,86 . 1:143:0,68 1/1:133:0,133 1/1:124:0,124 . 1:184:0,94 1/1:147:0,147 . . 1:105:0,54 1/1:124:0,124 . . 1:127:0,72 . . 1:105:0,55 1/1:179:0,179 . . 1 156107534 48048;rs4641 C T 191.01 . #_unique_end_positions=,73;#_unique_start_positions=,71;AC=25;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0658;AF_ESP_clinvar_20171029_hg19=,0.1970;AF_EXAC_clinvar_20171029_hg19=,0.26551;AF_TGP_clinvar_20171029_hg19=,0.2203;ALLELEID_clinvar_20171029_hg19=,57212;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3012;AN=25;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-1.59;CAF_dbsnp_common_v150_hg19_refseq=,0.7798|0.2202;CLNDISDB_clinvar_20171029_hg19=,MedGen:C0033300|OMIM:176670|Orphanet:ORPHA740|SNOMED_CT:238870004|MedGen:C0271694|Orphanet:ORPHA98306|SNOMED_CT:49292002|MedGen:C0406585|OMIM:275210|Orphanet:ORPHA1662|SNOMED_CT:400128006|MedGen:C0410189|Orphanet:ORPHA261|SNOMED_CT:111508004|MedGen:C2750785|OMIM:613205|Orphanet:ORPHA157973|MedGen:CN118835|MedGen:CN169374|MedGen:CN230736|MedGen:CN236772|MedGen:CN239171|MedGen:CN239184|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNDN_clinvar_20171029_hg19=,Hutchinson-Gilford_syndrome|Familial_partial_lipodystrophy|Lethal_tight_skin_contracture_syndrome|Emery-Dreifuss_muscular_dystrophy|Congenital_muscular_dystrophy|_LMNA-related|Mandibuloacral_dysplasia|not_specified|Cardiovascular_phenotype|Mandibuloacral_dysplasia_with_type_A_lipodystrophy|Charcot-Marie-Tooth|_Type_2|Lipoatrophy_with_Diabetes|_Hepatic_Steatosis|_Hypertrophic_Cardiomyopathy|_and_Leukomelanodermic_Papules|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive|not_provided;CLNHGVS_clinvar_20171029_hg19=,NC_000001.10:g.156107534C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,ARUP_Laboratories|_Molecular_Genetics_and_Genomics:37137|Genomic_Research_Center|Shahid_Beheshti_University_of_Medical_Sciences:LMNA-92b|Illumina_Clinical_Services_Laboratory|Illumina:2514;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001257374.2:c.1362C>T|_NM_001282624.1:c.1455C>T|_NM_001282625.1:c.1698C>T|_NM_001282626.1:c.1698C>T|_NM_005572.3:c.1698C>T|_NM_170707.3:c.1698C>T|_NM_170708.3:c.1608+511C>T;Coding_region_change_in_longest_transcript=,NM_170707.3:c.1698C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2738;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2247;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,100;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,LMNA:4000;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:4000;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:4000;Genotype=,T/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:6636;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:6636;Homo_sapiens_refseq_GRCh37.p13_Genes=,LMNA;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001282625.1|NM_005572.3|NM_001282626.1|NM_170707.3|NM_001282624.1|NM_001257374.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene2489;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna3944|rna3948|rna3946|rna3945|rna3950|rna3949;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001627|intron_variant|SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:150330;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:150330;Non-synonymous=,No;OM_dbsnp_common_v150_hg19_refseq=,OM;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene2489;QUAL=,159.54589770191004;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,156107534;RS_dbsnp_common_v150_hg19_refseq=,4641;Read_count=,135;Read_coverage=,135;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001282625.1|NM_005572.3|NM_001282626.1|NM_170707.3|NM_001282624.1|NM_001257374.2;Reverse_read_coverage=,35;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3119;SF=3,4,8,10,11,13,16,19,21,23,24,25,27,28,31,32,35,38,39;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.799196|0.200804;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05016808030515053f110100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.0816327;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.256637;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.317073;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.329412;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.318182;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.267442;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.215116;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.0555556;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.255102;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.0454545;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.238636;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0752212;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.872;db_xref=,GeneID:4000|HGNC:HGNC:6636|MIM:150330;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:01035;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001282625.1|HPRD:01035|Genbank:NM_005572.3|Genbank:NM_001282626.1|Genbank:NM_170707.3|Genbank:NM_001282624.1|Genbank:NM_001257374.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lamin_A/C;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LMNA;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,LMNA;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CDCD1|CDDC|CMD1A|CMT2B1|EMD2|FPL|FPLD|FPLD2|HGPS|IDC|LDP1|LFP|LGMD1B|LMN1|LMNC|LMNL1|MADA|PRO1;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,lamin_A/C|_transcript_variant_6|lamin_A/C|_transcript_variant_2|lamin_A/C|_transcript_variant_7|lamin_A/C|_transcript_variant_1|lamin_A/C|_transcript_variant_5|lamin_A/C|_transcript_variant_4;transcript_id=,NM_001282625.1|NM_005572.3|NM_001282626.1|NM_170707.3|NM_001282624.1|NM_001257374.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LMNA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LMNA:NM_001257374:exon10:c.C1362T:p.H454H,LMNA:NM_001282626:exon10:c.C1698T:p.H566H,LMNA:NM_005572:exon10:c.C1698T:p.H566H,LMNA:NM_170707:exon10:c.C1698T:p.H566H,LMNA:NM_001282624:exon11:c.C1455T:p.H485H,LMNA:NM_001282625:exon13:c.C1698T:p.H566H;cytoBand=1q22;genomicSuperDups=.;esp6500siv2_all=0.1970;esp6500siv2_ea=0.2531;esp6500siv2_all=0.1970;esp6500siv2_ea=0.2531;1000g2015aug_all=0.220248;avsnp147=rs4641;Kaviar_AF=0.116195;Kaviar_AC=17964;Kaviar_AN=154602;ExAC_ALL=0.2655;ExAC_AFR=0.0998;ExAC_AMR=0.3660;ExAC_EAS=0.3081;ExAC_FIN=0.25;ExAC_NFE=0.2817;ExAC_OTH=0.3297;ExAC_SAS=0.2943;CLNALLELEID=57212;CLNDN=Hutchinson-Gilford_syndrome|Familial_partial_lipodystrophy|Lethal_tight_skin_contracture_syndrome|Emery-Dreifuss_muscular_dystrophy|Limb-girdle_muscular_dystrophy,_type_1B|Charcot-Marie-Tooth_disease_type_2B1|Emery-Dreifuss_muscular_dystrophy_3,_autosomal_recessive|Congenital_muscular_dystrophy,_LMNA-related|Mandibuloacral_dysplasia|not_specified|Cardiovascular_phenotype|Mandibuloacral_dysplasia_with_type_A_lipodystrophy|Charcot-Marie-Tooth,_Type_2|Lipoatrophy_with_Diabetes,_Hepatic_Steatosis,_Hypertrophic_Cardiomyopathy,_and_Leukomelanodermic_Papules|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=MedGen:C0033300,OMIM:176670,Orphanet:ORPHA740,SNOMED_CT:238870004|MedGen:C0271694,Orphanet:ORPHA98306,SNOMED_CT:49292002|MedGen:C0406585,OMIM:275210,Orphanet:ORPHA1662,SNOMED_CT:400128006|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1834653,OMIM:159001,Orphanet:ORPHA264|MedGen:C1854154,OMIM:605588,Orphanet:ORPHA98856|MedGen:C2750035,OMIM:616516,Orphanet:ORPHA98855|MedGen:C2750785,OMIM:613205,Orphanet:ORPHA157973|MedGen:CN118835|MedGen:CN169374|MedGen:CN230736|MedGen:CN236772|MedGen:CN239171|MedGen:CN239184|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.8285;dpsi_zscore=1.912;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM003892#"Metabolic_syndrome_association_with";gnomAD_exome_ALL=0.2634;gnomAD_exome_AFR=0.0905;gnomAD_exome_AMR=0.3240;gnomAD_exome_ASJ=0.3013;gnomAD_exome_EAS=0.2656;gnomAD_exome_FIN=0.1728;gnomAD_exome_NFE=0.2649;gnomAD_exome_OTH=0.2734;gnomAD_exome_SAS=0.2926;gnomAD_genome_ALL=0.1960;gnomAD_genome_AFR=0.0919;gnomAD_genome_AMR=0.2912;gnomAD_genome_ASJ=0.23;gnomAD_genome_EAS=0.2466;gnomAD_genome_FIN=0.1742;gnomAD_genome_NFE=0.2486;gnomAD_genome_OTH=0.2220;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-10 GT:DP:CLCAD2 . . . 1/1:125:0,125 1:110:0,51 . . . 1:145:0,63 . 1:173:0,68 1:161:0,75 . 1:157:0,81 . . 1:160:0,76 . . 1:112:0,44 . 1:173:0,86 . 1:143:0,68 1/1:133:0,133 1/1:124:0,124 . 1:184:0,94 1/1:147:0,147 . . 1:105:0,54 1/1:124:0,124 . . 1:127:0,72 . . 1:105:0,55 1/1:179:0,179 . . 1 156108976 66756;rs7339 G C 200.00 . #_unique_end_positions=,25;#_unique_start_positions=,22;AC=9;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4977;AF_ESP_clinvar_20171029_hg19=,0.1767;AF_TGP_clinvar_20171029_hg19=,0.1853;ALLELEID_clinvar_20171029_hg19=,77653;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0807;AN=9;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.45;CAF_dbsnp_common_v150_hg19_refseq=,0.8147|0.1853;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN517202;CLNDN_clinvar_20171029_hg19=,not_provided;CLNHGVS_clinvar_20171029_hg19=,NC_000001.10:g.156108976G>C;CLNREVSTAT_clinvar_20171029_hg19=,no_assertion_provided;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001257374.2:c.1655+83G>C|_NM_001282624.1:c.*1421G>C|_NM_001282625.1:c.*1421G>C|_NM_001282626.1:c.*79G>C|_NM_005572.3:c.*1421G>C|_NM_170707.3:c.*79G>C|_NM_170708.3:c.*79G>C;Coding_region_change_in_longest_transcript=,NM_170707.3:c.*79G>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0228;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0865;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,72;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,LMNA:4000;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:4000;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:4000;Genotype=,C/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:6636;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:6636;Homo_sapiens_refseq_GRCh37.p13_Genes=,LMNA;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_170708.3|NM_001282626.1|NM_170707.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene2489;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna3947|rna3946|rna3945;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001624|3_prime_UTR_variant|SO:0001627|intron_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:150330;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:150330;Non-synonymous=,-;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene2489;QUAL=,200.0;RSPOS_dbsnp_common_v150_hg19_refseq=,156108976;RS_dbsnp_common_v150_hg19_refseq=,7339;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,33;Read_coverage=,84;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.5643474656344966;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_170708.3|NM_001282626.1|NM_170707.3;Reverse_read_coverage=,12;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1063;SF=0,1,2,16,17,22,33,36,40;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.770623|0.229377;U3_dbsnp_common_v150_hg19_refseq=,U3;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05016888000515013e100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.829;db_xref=,GeneID:4000|HGNC:HGNC:6636|MIM:150330;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:01035;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_170708.3|HPRD:01035|Genbank:NM_001282626.1|Genbank:NM_170707.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lamin_A/C;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LMNA;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,LMNA;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CDCD1|CDDC|CMD1A|CMT2B1|EMD2|FPL|FPLD|FPLD2|HGPS|IDC|LDP1|LFP|LGMD1B|LMN1|LMNC|LMNL1|MADA|PRO1;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,lamin_A/C|_transcript_variant_3|lamin_A/C|_transcript_variant_7|lamin_A/C|_transcript_variant_1;transcript_id=,NM_170708.3|NM_001282626.1|NM_170707.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR3;Gene.refGene=LMNA;GeneDetail.refGene=NM_001282626:c.*79G>C,NM_170707:c.*79G>C,NM_170708:c.*79G>C;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q22;genomicSuperDups=.;esp6500siv2_all=0.1767;esp6500siv2_ea=0.0773;esp6500siv2_all=0.1767;esp6500siv2_ea=0.0773;1000g2015aug_all=0.185304;avsnp147=rs7339;Kaviar_AF=0.0188031;Kaviar_AC=2907;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=77653;CLNDN=not_provided;CLNDISDB=MedGen:CN517202;CLNREVSTAT=no_assertion_provided;CLNSIG=not_provided;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.5319;dpsi_zscore=1.792;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.1680;gnomAD_genome_AFR=0.4229;gnomAD_genome_AMR=0.0740;gnomAD_genome_ASJ=0.1026;gnomAD_genome_EAS=0.0198;gnomAD_genome_FIN=0.0687;gnomAD_genome_NFE=0.0708;gnomAD_genome_OTH=0.0820;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:80:0,30 1:77:0,35 1:72:0,33 . . . . . . . . . . . . . 1:114:0,47 1:117:0,47 . . . . 1:55:0,27 . . . . . . . . . . 1:73:0,32 . . 1:86:0,44 . . . 1:100:0,56 . 1 156108976 66756;rs7339 G C 200.00 . #_unique_end_positions=,25;#_unique_start_positions=,22;AC=9;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4977;AF_ESP_clinvar_20171029_hg19=,0.1767;AF_TGP_clinvar_20171029_hg19=,0.1853;ALLELEID_clinvar_20171029_hg19=,77653;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0807;AN=9;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.45;CAF_dbsnp_common_v150_hg19_refseq=,0.8147|0.1853;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN517202;CLNDN_clinvar_20171029_hg19=,not_provided;CLNHGVS_clinvar_20171029_hg19=,NC_000001.10:g.156108976G>C;CLNREVSTAT_clinvar_20171029_hg19=,no_assertion_provided;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001257374.2:c.1655+83G>C|_NM_001282624.1:c.*1421G>C|_NM_001282625.1:c.*1421G>C|_NM_001282626.1:c.*79G>C|_NM_005572.3:c.*1421G>C|_NM_170707.3:c.*79G>C|_NM_170708.3:c.*79G>C;Coding_region_change_in_longest_transcript=,NM_170707.3:c.*79G>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0228;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0865;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,72;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,LMNA:4000;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:4000;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:4000;Genotype=,C/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:6636;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:6636;Homo_sapiens_refseq_GRCh37.p13_Genes=,LMNA;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_170708.3|NM_001282626.1|NM_170707.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene2489;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna3947|rna3946|rna3945;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001624|3_prime_UTR_variant|SO:0001627|intron_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:150330;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:150330;Non-synonymous=,-;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene2489;QUAL=,200.0;RSPOS_dbsnp_common_v150_hg19_refseq=,156108976;RS_dbsnp_common_v150_hg19_refseq=,7339;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,33;Read_coverage=,84;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.5643474656344966;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_170708.3|NM_001282626.1|NM_170707.3;Reverse_read_coverage=,12;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1063;SF=0,1,2,16,17,22,33,36,40;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.770623|0.229377;U3_dbsnp_common_v150_hg19_refseq=,U3;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05016888000515013e100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.829;db_xref=,GeneID:4000|HGNC:HGNC:6636|MIM:150330;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:01035;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_170708.3|HPRD:01035|Genbank:NM_001282626.1|Genbank:NM_170707.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lamin_A/C;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LMNA;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,LMNA;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CDCD1|CDDC|CMD1A|CMT2B1|EMD2|FPL|FPLD|FPLD2|HGPS|IDC|LDP1|LFP|LGMD1B|LMN1|LMNC|LMNL1|MADA|PRO1;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,lamin_A/C|_transcript_variant_3|lamin_A/C|_transcript_variant_7|lamin_A/C|_transcript_variant_1;transcript_id=,NM_170708.3|NM_001282626.1|NM_170707.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR3;Gene.refGene=LMNA;GeneDetail.refGene=NM_001282626:c.*79G>C,NM_170707:c.*79G>C,NM_170708:c.*79G>C;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q22;genomicSuperDups=.;esp6500siv2_all=0.1767;esp6500siv2_ea=0.0773;esp6500siv2_all=0.1767;esp6500siv2_ea=0.0773;1000g2015aug_all=0.185304;avsnp147=rs7339;Kaviar_AF=0.0188031;Kaviar_AC=2907;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=77653;CLNDN=not_provided;CLNDISDB=MedGen:CN517202;CLNREVSTAT=no_assertion_provided;CLNSIG=not_provided;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.5319;dpsi_zscore=1.792;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.1680;gnomAD_genome_AFR=0.4229;gnomAD_genome_AMR=0.0740;gnomAD_genome_ASJ=0.1026;gnomAD_genome_EAS=0.0198;gnomAD_genome_FIN=0.0687;gnomAD_genome_NFE=0.0708;gnomAD_genome_OTH=0.0820;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:80:0,30 1:77:0,35 1:72:0,33 . . . . . . . . . . . . . 1:114:0,47 1:117:0,47 . . . . 1:55:0,27 . . . . . . . . . . 1:73:0,32 . . 1:86:0,44 . . . 1:100:0,56 . 1 156109536 rs185169879 G A 200.00 . #_unique_end_positions=,24;#_unique_start_positions=,26;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0008;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0058;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.01;CAF_dbsnp_common_v150_hg19_refseq=,0.9968|0.003195;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001257374.2:c.1656-25G>A|_NM_001282624.1:c.*1981G>A|_NM_001282625.1:c.*1981G>A|_NM_001282626.1:c.*639G>A|_NM_005572.3:c.*1981G>A|_NM_170707.3:c.*639G>A|_NM_170708.3:c.*639G>A;Coding_region_change_in_longest_transcript=,NM_170707.3:c.*639G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0099;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,19;GENEINFO_dbsnp_common_v150_hg19_refseq=,LMNA:4000;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:4000;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:4000;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:6636;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:6636;Homo_sapiens_refseq_GRCh37.p13_Genes=,LMNA;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_170708.3|NM_001282626.1|NM_170707.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene2489;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna3947|rna3946|rna3945;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:150330;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:150330;Non-synonymous=,-;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene2489;QUAL=,200.0;RSPOS_dbsnp_common_v150_hg19_refseq=,156109536;RS_dbsnp_common_v150_hg19_refseq=,185169879;Read_count=,37;Read_coverage=,75;Read_direction_test_probability=,0.9874956587525116;Read_position_test_probability=,0.6570573773539692;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_170708.3|NM_001282626.1|NM_170707.3;Reverse_read_coverage=,56;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;SF=39;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.988323|0.0116766;U3_dbsnp_common_v150_hg19_refseq=,U3;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050100880005040036000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.486;db_xref=,GeneID:4000|HGNC:HGNC:6636|MIM:150330;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:01035;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_170708.3|HPRD:01035|Genbank:NM_001282626.1|Genbank:NM_170707.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lamin_A/C;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LMNA;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,LMNA;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CDCD1|CDDC|CMD1A|CMT2B1|EMD2|FPL|FPLD|FPLD2|HGPS|IDC|LDP1|LFP|LGMD1B|LMN1|LMNC|LMNL1|MADA|PRO1;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,lamin_A/C|_transcript_variant_3|lamin_A/C|_transcript_variant_7|lamin_A/C|_transcript_variant_1;transcript_id=,NM_170708.3|NM_001282626.1|NM_170707.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR3;Gene.refGene=LMNA;GeneDetail.refGene=NM_001282626:c.*639G>A,NM_170707:c.*639G>A,NM_170708:c.*639G>A;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q22;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.00319489;avsnp147=rs185169879;Kaviar_AF=0.0024126;Kaviar_AC=373;Kaviar_AN=154602;ExAC_ALL=0.0083;ExAC_AFR=0.0053;ExAC_AMR=0.0109;ExAC_EAS=0.0074;ExAC_FIN=.;ExAC_NFE=0.0189;ExAC_OTH=0;ExAC_SAS=0.0047;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0089;gnomAD_exome_AFR=0.0022;gnomAD_exome_AMR=0.0070;gnomAD_exome_ASJ=0.0163;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0.0051;gnomAD_exome_NFE=0.0141;gnomAD_exome_OTH=0.0092;gnomAD_exome_SAS=0.0037;gnomAD_genome_ALL=0.0067;gnomAD_genome_AFR=0.0020;gnomAD_genome_AMR=0.0072;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0046;gnomAD_genome_NFE=0.0106;gnomAD_genome_OTH=0.0092;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:73:0,37 . . 1 162313735 rs3751284 C T 194.35 . #_unique_end_positions=,45;#_unique_start_positions=,43;AC=29;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2829;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4510;AN=29;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.21;CAF_dbsnp_common_v150_hg19_refseq=,0.5691|0.4309;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001164757.1:c.549C>T|_NM_014697.2:c.564C>T;Coding_region_change_in_longest_transcript=,NM_014697.2:c.564C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6339;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3549;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,31;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,NOS1AP:9722;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:9722;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:9722;Genotype=,T/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:16859;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:16859;Homo_sapiens_refseq_GRCh37.p13_Genes=,NOS1AP;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_014697.2|NM_001164757.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene2727;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna4390|rna4391;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:605551;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:605551;Non-synonymous=,No;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene2727;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,162313735;RS_dbsnp_common_v150_hg19_refseq=,3751284;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,72;Read_coverage=,72;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_014697.2|NM_001164757.1;Reverse_read_coverage=,41;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4857;SF=0,2,3,6,7,9,10,11,13,14,15,17,18,19,20,25,26,27,29,30,31,32;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.66416|0.33584;TPA_dbsnp_common_v150_hg19_refseq=,TPA;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05013800030517053e000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.064;db_xref=,GeneID:9722|HGNC:HGNC:16859|MIM:605551;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_014697.2|Genbank:NM_001164757.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,nitric_oxide_synthase_1_adaptor_protein;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,NOS1AP;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NOS1AP;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,6330408P19Rik|CAPON;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,nitric_oxide_synthase_1_adaptor_protein|_transcript_variant_1|nitric_oxide_synthase_1_adaptor_protein|_transcript_variant_3;transcript_id=,NM_014697.2|NM_001164757.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=NOS1AP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=NOS1AP:NM_001164757:exon6:c.C549T:p.S183S,NOS1AP:NM_014697:exon6:c.C564T:p.S188S;cytoBand=1q23.3;genomicSuperDups=.;esp6500siv2_all=0.3343;esp6500siv2_ea=0.3571;esp6500siv2_all=0.3343;esp6500siv2_ea=0.3571;1000g2015aug_all=0.430911;avsnp147=rs3751284;Kaviar_AF=0.397168;Kaviar_AC=61403;Kaviar_AN=154602;ExAC_ALL=0.4072;ExAC_AFR=0.2887;ExAC_AMR=0.4933;ExAC_EAS=0.6054;ExAC_FIN=0.4665;ExAC_NFE=0.3647;ExAC_OTH=0.4339;ExAC_SAS=0.4646;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0326;dpsi_zscore=-0.179;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.4127;gnomAD_exome_AFR=0.2842;gnomAD_exome_AMR=0.4850;gnomAD_exome_ASJ=0.3893;gnomAD_exome_EAS=0.5968;gnomAD_exome_FIN=0.4691;gnomAD_exome_NFE=0.3580;gnomAD_exome_OTH=0.3949;gnomAD_exome_SAS=0.4626;gnomAD_genome_ALL=0.3718;gnomAD_genome_AFR=0.2970;gnomAD_genome_AMR=0.4414;gnomAD_genome_ASJ=0.3533;gnomAD_genome_EAS=0.6063;gnomAD_genome_FIN=0.4627;gnomAD_genome_NFE=0.3632;gnomAD_genome_OTH=0.4020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1/1:62:0,62 . 1/1:72:0,72 1:82:0,45 . . 1:56:0,26 1:88:0,42 . 1:83:0,49 1/1:117:0,117 1:68:0,38 . 1:96:0,51 1/1:108:0,108 1/1:83:0,83 . 1:92:0,43 1:84:0,36 1:79:0,35 1/1:85:0,85 . . . . 1:67:0,31 1:86:0,36 1:125:0,77 . 1/1:112:0,112 1:97:0,52 1:76:0,38 1:83:0,46 . . . . . . . . . 1 162325040 . C T 200.00 . #_unique_end_positions=,35;#_unique_start_positions=,38;AC=1;AN=1;Amino_acid_change=,NP_001158229.1:p.Ala215Val|_NP_055512.1:p.Ala220Val;Amino_acid_change_in_longest_transcript=,NP_055512.1:p.Ala220Val;BaseQRankSum=,-1.08;Coding_region_change=,NM_001164757.1:c.644C>T|_NM_014697.2:c.659C>T;Coding_region_change_in_longest_transcript=,NM_014697.2:c.659C>T;Forward_read_coverage=,85;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:9722;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:9722;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:16859;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:16859;Homo_sapiens_refseq_GRCh37.p13_Genes=,NOS1AP;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_014697.2|NM_001164757.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene2727;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna4390|rna4391;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:605551;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:605551;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene2727;QUAL=,200.0;Read_count=,63;Read_coverage=,138;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9783159965973895;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_014697.2|NM_001164757.1;Reverse_read_coverage=,53;SF=8;conservation_score=,0.196;db_xref=,GeneID:9722|HGNC:HGNC:16859|MIM:605551;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_014697.2|Genbank:NM_001164757.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,nitric_oxide_synthase_1_adaptor_protein;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,NOS1AP;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NOS1AP;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,6330408P19Rik|CAPON;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,nitric_oxide_synthase_1_adaptor_protein|_transcript_variant_1|nitric_oxide_synthase_1_adaptor_protein|_transcript_variant_3;transcript_id=,NM_014697.2|NM_001164757.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=NOS1AP;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=NOS1AP:NM_001164757:exon7:c.C644T:p.A215V,NOS1AP:NM_014697:exon7:c.C659T:p.A220V;cytoBand=1q23.3;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs757703119;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=8.238e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.499e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.076;SIFT_pred=T;Polyphen2_HDIV_score=0.957;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.223;Polyphen2_HVAR_pred=B;LRT_score=0.003;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=1.67;MutationAssessor_pred=L;FATHMM_score=-1.16;FATHMM_pred=T;PROVEAN_score=-1.5;PROVEAN_pred=N;VEST3_score=0.687;CADD_raw=3.778;CADD_phred=23.4;DANN_score=0.998;fathmm-MKL_coding_score=0.961;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.505;MetaSVM_pred=T;MetaLR_score=0.245;MetaLR_pred=T;integrated_fitCons_score=0.706;integrated_confidence_value=0;GERP++_RS=5.41;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.852;phastCons7way_vertebrate=0.943;phastCons20way_mammalian=0.088;SiPhy_29way_logOdds=17.768;GDI_full_10282015=.;dpsi_max_tissue=-0.4459;dpsi_zscore=-1.035;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=1.218e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=1.79e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=3.249e-05;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . 1:120:0,54 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 162335256 rs348624 C T 197.44 . #_unique_end_positions=,87;#_unique_start_positions=,80;AC=19;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4342;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2161;AN=19;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.26;CAF_dbsnp_common_v150_hg19_refseq=,0.7492|0.2508;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001126060.1:c.117C>T|_NM_001164757.1:c.987C>T|_NM_014697.2:c.1002C>T;Coding_region_change_in_longest_transcript=,NM_001126060.1:c.117C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1230;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1193;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,64;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,NOS1AP:9722;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:9722;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:9722;Genotype=,T/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:16859;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:16859;Homo_sapiens_refseq_GRCh37.p13_Genes=,NOS1AP;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_014697.2|NM_001164757.1|NM_001126060.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene2727;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna4390|rna4391|rna4392;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:605551;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:605551;Non-synonymous=,No;OM_dbsnp_common_v150_hg19_refseq=,OM;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene2727;QUAL=,156.53559774527022;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,162335256;RS_dbsnp_common_v150_hg19_refseq=,348624;Read_count=,193;Read_coverage=,193;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_014697.2|NM_001164757.1|NM_001126060.1;Reverse_read_coverage=,129;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2945;SF=0,3,4,8,10,11,12,13,17,18,22,23,33,37,38,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.747235|0.252765;TPA_dbsnp_common_v150_hg19_refseq=,TPA;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05017800030517053f010100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.418367;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.102679;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.0853659;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.123529;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.284091;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.186047;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0588235;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.432584;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.244898;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.454545;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.174419;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.428571;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.885;db_xref=,GeneID:9722|HGNC:HGNC:16859|MIM:605551;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_014697.2|Genbank:NM_001164757.1|Genbank:NM_001126060.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,nitric_oxide_synthase_1_adaptor_protein;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,NOS1AP;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NOS1AP;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,6330408P19Rik|CAPON;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,nitric_oxide_synthase_1_adaptor_protein|_transcript_variant_1|nitric_oxide_synthase_1_adaptor_protein|_transcript_variant_3|nitric_oxide_synthase_1_adaptor_protein|_transcript_variant_2;transcript_id=,NM_014697.2|NM_001164757.1|NM_001126060.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=NOS1AP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=NOS1AP:NM_001126060:exon1:c.C117T:p.R39R,NOS1AP:NM_001164757:exon9:c.C987T:p.R329R,NOS1AP:NM_014697:exon9:c.C1002T:p.R334R;cytoBand=1q23.3;genomicSuperDups=.;esp6500siv2_all=0.2147;esp6500siv2_ea=0.1199;esp6500siv2_all=0.2147;esp6500siv2_ea=0.1199;1000g2015aug_all=0.250799;avsnp147=rs348624;Kaviar_AF=0.166621;Kaviar_AC=25760;Kaviar_AN=154602;ExAC_ALL=0.1730;ExAC_AFR=0.4163;ExAC_AMR=0.2089;ExAC_EAS=0.1289;ExAC_FIN=0.1053;ExAC_NFE=0.1195;ExAC_OTH=0.1582;ExAC_SAS=0.2616;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0857;dpsi_zscore=-0.404;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1686;gnomAD_exome_AFR=0.4198;gnomAD_exome_AMR=0.2065;gnomAD_exome_ASJ=0.1532;gnomAD_exome_EAS=0.1300;gnomAD_exome_FIN=0.1088;gnomAD_exome_NFE=0.1169;gnomAD_exome_OTH=0.1463;gnomAD_exome_SAS=0.2631;gnomAD_genome_ALL=0.1984;gnomAD_genome_AFR=0.4066;gnomAD_genome_AMR=0.2026;gnomAD_genome_ASJ=0.1159;gnomAD_genome_EAS=0.1378;gnomAD_genome_FIN=0.1168;gnomAD_genome_NFE=0.1075;gnomAD_genome_OTH=0.1510;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1/1:169:0,169 . . 1:214:0,110 1:171:0,76 . . . 1:247:0,128 . 1/1:245:0,245 1:190:0,80 1:244:0,117 1:233:0,109 . . . 1:227:0,105 1:175:0,78 . . . 1:323:0,131 1:271:0,127 . . . . . . . . . 1:183:0,80 . . . 1:157:0,69 1:172:0,84 . 1:259:0,141 1:187:0,87 1 162335256 rs348624 C T 197.44 . #_unique_end_positions=,87;#_unique_start_positions=,80;AC=19;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4342;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2161;AN=19;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.26;CAF_dbsnp_common_v150_hg19_refseq=,0.7492|0.2508;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001126060.1:c.117C>T|_NM_001164757.1:c.987C>T|_NM_014697.2:c.1002C>T;Coding_region_change_in_longest_transcript=,NM_001126060.1:c.117C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1230;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1193;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,64;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,NOS1AP:9722;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:9722;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:9722;Genotype=,T/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:16859;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:16859;Homo_sapiens_refseq_GRCh37.p13_Genes=,NOS1AP;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_014697.2|NM_001164757.1|NM_001126060.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene2727;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna4390|rna4391|rna4392;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:605551;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:605551;Non-synonymous=,No;OM_dbsnp_common_v150_hg19_refseq=,OM;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene2727;QUAL=,156.53559774527022;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,162335256;RS_dbsnp_common_v150_hg19_refseq=,348624;Read_count=,193;Read_coverage=,193;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_014697.2|NM_001164757.1|NM_001126060.1;Reverse_read_coverage=,129;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2945;SF=0,3,4,8,10,11,12,13,17,18,22,23,33,37,38,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.747235|0.252765;TPA_dbsnp_common_v150_hg19_refseq=,TPA;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05017800030517053f010100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.418367;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.102679;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.0853659;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.123529;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.284091;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.186047;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0588235;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.432584;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.244898;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.454545;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.174419;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.428571;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.885;db_xref=,GeneID:9722|HGNC:HGNC:16859|MIM:605551;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_014697.2|Genbank:NM_001164757.1|Genbank:NM_001126060.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,nitric_oxide_synthase_1_adaptor_protein;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,NOS1AP;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NOS1AP;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,6330408P19Rik|CAPON;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,nitric_oxide_synthase_1_adaptor_protein|_transcript_variant_1|nitric_oxide_synthase_1_adaptor_protein|_transcript_variant_3|nitric_oxide_synthase_1_adaptor_protein|_transcript_variant_2;transcript_id=,NM_014697.2|NM_001164757.1|NM_001126060.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=NOS1AP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=NOS1AP:NM_001126060:exon1:c.C117T:p.R39R,NOS1AP:NM_001164757:exon9:c.C987T:p.R329R,NOS1AP:NM_014697:exon9:c.C1002T:p.R334R;cytoBand=1q23.3;genomicSuperDups=.;esp6500siv2_all=0.2147;esp6500siv2_ea=0.1199;esp6500siv2_all=0.2147;esp6500siv2_ea=0.1199;1000g2015aug_all=0.250799;avsnp147=rs348624;Kaviar_AF=0.166621;Kaviar_AC=25760;Kaviar_AN=154602;ExAC_ALL=0.1730;ExAC_AFR=0.4163;ExAC_AMR=0.2089;ExAC_EAS=0.1289;ExAC_FIN=0.1053;ExAC_NFE=0.1195;ExAC_OTH=0.1582;ExAC_SAS=0.2616;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0857;dpsi_zscore=-0.404;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1686;gnomAD_exome_AFR=0.4198;gnomAD_exome_AMR=0.2065;gnomAD_exome_ASJ=0.1532;gnomAD_exome_EAS=0.1300;gnomAD_exome_FIN=0.1088;gnomAD_exome_NFE=0.1169;gnomAD_exome_OTH=0.1463;gnomAD_exome_SAS=0.2631;gnomAD_genome_ALL=0.1984;gnomAD_genome_AFR=0.4066;gnomAD_genome_AMR=0.2026;gnomAD_genome_ASJ=0.1159;gnomAD_genome_EAS=0.1378;gnomAD_genome_FIN=0.1168;gnomAD_genome_NFE=0.1075;gnomAD_genome_OTH=0.1510;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1/1:169:0,169 . . 1:214:0,110 1:171:0,76 . . . 1:247:0,128 . 1/1:245:0,245 1:190:0,80 1:244:0,117 1:233:0,109 . . . 1:227:0,105 1:175:0,78 . . . 1:323:0,131 1:271:0,127 . . . . . . . . . 1:183:0,80 . . . 1:157:0,69 1:172:0,84 . 1:259:0,141 1:187:0,87 1 201330429 43669;rs3730238 T C 200.00 . #_unique_end_positions=,20;#_unique_start_positions=,22;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1740;AF_ESP_clinvar_20171029_hg19=,0.0602;AF_EXAC_clinvar_20171029_hg19=,0.05073;AF_TGP_clinvar_20171029_hg19=,0.0974;ALLELEID_clinvar_20171029_hg19=,52838;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0231;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001263274.1:p.Lys263Arg|_NP_001001432.1:p.Lys247Arg|_NP_000355.2:p.Lys260Arg|_NP_001001430.1:p.Lys253Arg|_NP_001263276.1:p.Lys253Arg|_NP_001263275.1:p.Lys220Arg|_NP_001001431.1:p.Lys250Arg;Amino_acid_change_in_longest_transcript=,NP_001263276.1:p.Lys253Arg;BaseQRankSum=,1.13;CAF_dbsnp_common_v150_hg19_refseq=,0.9026|0.09744;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664|MedGen:C4021133|MedGen:C0340429|Orphanet:ORPHA217635|SNOMED_CT:233878008|MedGen:C0949658|Orphanet:ORPHA155|SNOMED_CT:83978005|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_restrictive_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant;CLNHGVS_clinvar_20171029_hg19=,NC_000001.10:g.201330429T>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Genetics_Diagnostic_Laboratory|Children's_Hospital_of_Eastern_Ontario_(CHEO):340580|Illumina_Clinical_Services_Laboratory|Illumina:860748;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000364.3:c.779A>G|_NM_001001430.2:c.758A>G|_NM_001001431.2:c.749A>G|_NM_001001432.2:c.740A>G|_NM_001276345.1:c.788A>G|_NM_001276346.1:c.659A>G|_NM_001276347.1:c.758A>G;Coding_region_change_in_longest_transcript=,NM_001276347.1:c.758A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0466;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0219;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,26;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TNNT2:7139;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7139;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7139;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:11949;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:11949;Homo_sapiens_refseq_GRCh37.p13_Genes=,TNNT2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001001432.2|NM_001001431.2|NM_001276346.1|NM_001001430.2|NM_001276347.1|NM_000364.3|NM_001276345.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3190;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna4992|rna4993|rna4995|rna4994|rna4998|rna4996|rna4997;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:191045;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:191045;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3190;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,201330429;RS_dbsnp_common_v150_hg19_refseq=,3730238;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,25;Read_coverage=,58;Read_direction_test_probability=,0.9684974769578906;Read_position_test_probability=,0.9482453798865047;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001001432.2|NM_001001431.2|NM_001276346.1|NM_001001430.2|NM_001276347.1|NM_000364.3|NM_001276345.1;Reverse_read_coverage=,32;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1769;SF=18;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.919529|0.0804712;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050328000a0515053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.0918367;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.00833333;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.0609756;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.0470588;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.164773;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0232558;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0755814;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.122222;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.0102041;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.112676;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.0170455;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.176991;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:7139|HGNC:HGNC:11949|MIM:191045;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001001432.2|Genbank:NM_001001431.2|Genbank:NM_001276346.1|Genbank:NM_001001430.2|Genbank:NM_001276347.1|Genbank:NM_000364.3|Genbank:NM_001276345.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,troponin_T2|_cardiac_type;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TNNT2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TNNT2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1D|CMH2|CMPD2|cTnT|LVNC6|RCM3|TnTC;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,troponin_T2|_cardiac_type|_transcript_variant_4|troponin_T2|_cardiac_type|_transcript_variant_3|troponin_T2|_cardiac_type|_transcript_variant_6|troponin_T2|_cardiac_type|_transcript_variant_2|troponin_T2|_cardiac_type|_transcript_variant_7|troponin_T2|_cardiac_type|_transcript_variant_1|troponin_T2|_cardiac_type|_transcript_variant_5;transcript_id=,NM_001001432.2|NM_001001431.2|NM_001276346.1|NM_001001430.2|NM_001276347.1|NM_000364.3|NM_001276345.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TNNT2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TNNT2:NM_001001432:exon12:c.A740G:p.K247R,TNNT2:NM_001001431:exon13:c.A749G:p.K250R,TNNT2:NM_001276346:exon13:c.A659G:p.K220R,TNNT2:NM_000364:exon14:c.A779G:p.K260R,TNNT2:NM_001001430:exon14:c.A758G:p.K253R,TNNT2:NM_001276347:exon14:c.A758G:p.K253R,TNNT2:NM_001276345:exon15:c.A788G:p.K263R;cytoBand=1q32.1;genomicSuperDups=.;esp6500siv2_all=0.0602;esp6500siv2_ea=0.0148;esp6500siv2_all=0.0602;esp6500siv2_ea=0.0148;1000g2015aug_all=0.0974441;avsnp147=rs3730238;Kaviar_AF=0.047024;Kaviar_AC=7270;Kaviar_AN=154602;ExAC_ALL=0.0507;ExAC_AFR=0.1527;ExAC_AMR=0.0232;ExAC_EAS=0.0476;ExAC_FIN=0.0517;ExAC_NFE=0.0162;ExAC_OTH=0.0540;ExAC_SAS=0.1464;CLNALLELEID=52838;CLNDN=Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_restrictive_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C0340429,Orphanet:ORPHA217635,SNOMED_CT:233878008|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.14;SIFT_pred=T;Polyphen2_HDIV_score=0.196;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.118;Polyphen2_HVAR_pred=B;LRT_score=0.087;LRT_pred=N;MutationTaster_score=0.053;MutationTaster_pred=P;MutationAssessor_score=0.84;MutationAssessor_pred=L;FATHMM_score=-2.27;FATHMM_pred=D;PROVEAN_score=-1.45;PROVEAN_pred=N;VEST3_score=0.371;CADD_raw=2.213;CADD_phred=17.60;DANN_score=0.992;fathmm-MKL_coding_score=0.784;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.972;MetaSVM_pred=T;MetaLR_score=0.004;MetaLR_pred=T;integrated_fitCons_score=0.696;integrated_confidence_value=0;GERP++_RS=2.57;phyloP7way_vertebrate=0.079;phyloP20way_mammalian=1.058;phastCons7way_vertebrate=0.992;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=5.509;GDI_full_10282015=.;dpsi_max_tissue=-2.6335;dpsi_zscore=-2.074;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM034301#"Cardiomyopathy_hypertrophic";gnomAD_exome_ALL=0.0471;gnomAD_exome_AFR=0.1530;gnomAD_exome_AMR=0.0208;gnomAD_exome_ASJ=0.0215;gnomAD_exome_EAS=0.0455;gnomAD_exome_FIN=0.0522;gnomAD_exome_NFE=0.0151;gnomAD_exome_OTH=0.0437;gnomAD_exome_SAS=0.1450;gnomAD_genome_ALL=0.0607;gnomAD_genome_AFR=0.1472;gnomAD_genome_AMR=0.0215;gnomAD_genome_ASJ=0.0232;gnomAD_genome_EAS=0.0413;gnomAD_genome_FIN=0.0550;gnomAD_genome_NFE=0.0179;gnomAD_genome_OTH=0.0439;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . 1:51:0,24 . . . . . . . . . . . . . . . . . . . . . . . 1 201334382 43632;rs3729547 G A 182.84 . #_unique_end_positions=,44;#_unique_start_positions=,40;AC=55;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6293;ALLELEID_clinvar_20171029_hg19=,52801;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7997;AN=55;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.21;CAF_dbsnp_common_v150_hg19_refseq=,0.3049|0.6951|.;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664|MedGen:C4021133|MedGen:C0340429|Orphanet:ORPHA217635|SNOMED_CT:233878008|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_restrictive_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant;CLNHGVS_clinvar_20171029_hg19=,NC_000001.10:g.201334382G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:833775;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000364.3:c.348C>T|_NM_001001430.2:c.318C>T|_NM_001001431.2:c.318C>T|_NM_001001432.2:c.303C>T|_NM_001276345.1:c.348C>T|_NM_001276346.1:c.291+356C>T|_NM_001276347.1:c.318C>T;Coding_region_change_in_longest_transcript=,NM_001276347.1:c.318C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5268;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7416;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,36;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TNNT2:7139;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7139;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7139;Genotype=,A/A;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:11949;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:11949;Homo_sapiens_refseq_GRCh37.p13_Genes=,TNNT2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001001432.2|NM_001001431.2|NM_001001430.2|NM_001276347.1|NM_000364.3|NM_001276345.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3190;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna4992|rna4993|rna4994|rna4998|rna4996|rna4997;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001627|intron_variant|SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:191045;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:191045;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3190;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,201334382;RS_dbsnp_common_v150_hg19_refseq=,3729547;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,84;Read_coverage=,84;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001001432.2|NM_001001431.2|NM_001001430.2|NM_001276347.1|NM_000364.3|NM_001276345.1;Reverse_read_coverage=,48;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.8354;SF=0,1,3,4,5,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,35,36,38,39,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.326877|0.673123|.;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05016808030517053f100101;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.602041;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.721239;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.512195;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.564706;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.857955;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.55814;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.581395;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.566667;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.79;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.681818;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.721591;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.60177;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:7139|HGNC:HGNC:11949|MIM:191045;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001001432.2|Genbank:NM_001001431.2|Genbank:NM_001001430.2|Genbank:NM_001276347.1|Genbank:NM_000364.3|Genbank:NM_001276345.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,troponin_T2|_cardiac_type;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TNNT2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TNNT2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1D|CMH2|CMPD2|cTnT|LVNC6|RCM3|TnTC;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,troponin_T2|_cardiac_type|_transcript_variant_4|troponin_T2|_cardiac_type|_transcript_variant_3|troponin_T2|_cardiac_type|_transcript_variant_2|troponin_T2|_cardiac_type|_transcript_variant_7|troponin_T2|_cardiac_type|_transcript_variant_1|troponin_T2|_cardiac_type|_transcript_variant_5;transcript_id=,NM_001001432.2|NM_001001431.2|NM_001001430.2|NM_001276347.1|NM_000364.3|NM_001276345.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TNNT2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TNNT2:NM_001001432:exon8:c.C303T:p.I101I,TNNT2:NM_001001430:exon9:c.C318T:p.I106I,TNNT2:NM_001001431:exon9:c.C318T:p.I106I,TNNT2:NM_001276347:exon9:c.C318T:p.I106I,TNNT2:NM_000364:exon10:c.C348T:p.I116I,TNNT2:NM_001276345:exon10:c.C348T:p.I116I;cytoBand=1q32.1;genomicSuperDups=.;esp6500siv2_all=0.6828;esp6500siv2_ea=0.7184;esp6500siv2_all=0.6828;esp6500siv2_ea=0.7184;1000g2015aug_all=0.695088;avsnp147=rs3729547;Kaviar_AF=0.712837;Kaviar_AC=110206;Kaviar_AN=154602;ExAC_ALL=0.7194;ExAC_AFR=0.6243;ExAC_AMR=0.7690;ExAC_EAS=0.5480;ExAC_FIN=0.7971;ExAC_NFE=0.7147;ExAC_OTH=0.7775;ExAC_SAS=0.8187;CLNALLELEID=52801;CLNDN=Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_restrictive_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C0340429,Orphanet:ORPHA217635,SNOMED_CT:233878008|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.3312;dpsi_zscore=-0.898;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.7237;gnomAD_exome_AFR=0.6147;gnomAD_exome_AMR=0.7649;gnomAD_exome_ASJ=0.7724;gnomAD_exome_EAS=0.5437;gnomAD_exome_FIN=0.7888;gnomAD_exome_NFE=0.7096;gnomAD_exome_OTH=0.7523;gnomAD_exome_SAS=0.8175;gnomAD_genome_ALL=0.6921;gnomAD_genome_AFR=0.6157;gnomAD_genome_AMR=0.7685;gnomAD_genome_ASJ=0.7682;gnomAD_genome_EAS=0.5336;gnomAD_genome_FIN=0.7944;gnomAD_genome_NFE=0.7202;gnomAD_genome_OTH=0.7454;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 1/1:66:0,66 1/1:57:0,57 . 1:85:0,37 1:51:0,31 1/1:90:0,90 . 1/1:60:0,60 1:80:0,38 1:96:0,38 1/1:112:0,112 1/1:56:0,56 1:81:0,38 1:84:0,42 1/1:114:0,114 1:98:0,53 1:75:0,28 1:103:0,56 1/1:63:0,63 1/1:64:0,64 1:86:0,32 1/1:81:0,81 1/1:144:0,144 1/1:100:0,100 1:109:0,52 1/1:67:0,67 1:83:0,30 1:106:0,56 1/1:112:0,112 1:100:0,44 1/1:65:0,65 1:49:0,18 1/1:83:0,83 1:56:0,21 . 1/1:93:0,93 1:57:0,22 . 1/1:63:0,63 1:93:0,32 . 1:64:0,35 1 201334795 43617;rs3729845 C T 200.00 . #_unique_end_positions=,42;#_unique_start_positions=,38;AC=4;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1921;AF_ESP_clinvar_20171029_hg19=,0.0920;AF_EXAC_clinvar_20171029_hg19=,0.06442;AF_TGP_clinvar_20171029_hg19=,0.0825;ALLELEID_clinvar_20171029_hg19=,52786;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0562;AN=4;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.3;CAF_dbsnp_common_v150_hg19_refseq=,0.9175|0.08247;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664|MedGen:C4021133|MedGen:C0340429|Orphanet:ORPHA217635|SNOMED_CT:233878008|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_restrictive_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant;CLNHGVS_clinvar_20171029_hg19=,NC_000001.10:g.201334795C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Genetics_Diagnostic_Laboratory|Children's_Hospital_of_Eastern_Ontario_(CHEO):340139|Illumina_Clinical_Services_Laboratory|Illumina:833799;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000364.3:c.237G>A|_NM_001001430.2:c.207G>A|_NM_001001431.2:c.207G>A|_NM_001001432.2:c.192G>A|_NM_001276345.1:c.237G>A|_NM_001276346.1:c.234G>A|_NM_001276347.1:c.207G>A;Coding_region_change_in_longest_transcript=,NM_001276347.1:c.207G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0666;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,48;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TNNT2:7139;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7139;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7139;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:11949;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:11949;Homo_sapiens_refseq_GRCh37.p13_Genes=,TNNT2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001001432.2|NM_001001431.2|NM_001276346.1|NM_001001430.2|NM_001276347.1|NM_000364.3|NM_001276345.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3190;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna4992|rna4993|rna4995|rna4994|rna4998|rna4996|rna4997;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:191045;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:191045;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3190;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,201334795;RS_dbsnp_common_v150_hg19_refseq=,3729845;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,70;Read_coverage=,124;Read_direction_test_probability=,0.9999897866036934;Read_position_test_probability=,0.994730076021659;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001001432.2|NM_001001431.2|NM_001276346.1|NM_001001430.2|NM_001276347.1|NM_000364.3|NM_001276345.1;Reverse_read_coverage=,76;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0532;SF=7,11,16,32;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.892197|0.107803;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05016800030515053f100100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.132653;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0530973;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.0511364;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.127778;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.08;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.13986;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.130682;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.212389;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.227;db_xref=,GeneID:7139|HGNC:HGNC:11949|MIM:191045;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001001432.2|Genbank:NM_001001431.2|Genbank:NM_001276346.1|Genbank:NM_001001430.2|Genbank:NM_001276347.1|Genbank:NM_000364.3|Genbank:NM_001276345.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,troponin_T2|_cardiac_type;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TNNT2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TNNT2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1D|CMH2|CMPD2|cTnT|LVNC6|RCM3|TnTC;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,troponin_T2|_cardiac_type|_transcript_variant_4|troponin_T2|_cardiac_type|_transcript_variant_3|troponin_T2|_cardiac_type|_transcript_variant_6|troponin_T2|_cardiac_type|_transcript_variant_2|troponin_T2|_cardiac_type|_transcript_variant_7|troponin_T2|_cardiac_type|_transcript_variant_1|troponin_T2|_cardiac_type|_transcript_variant_5;transcript_id=,NM_001001432.2|NM_001001431.2|NM_001276346.1|NM_001001430.2|NM_001276347.1|NM_000364.3|NM_001276345.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TNNT2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TNNT2:NM_001001432:exon7:c.G192A:p.S64S,TNNT2:NM_001001430:exon8:c.G207A:p.S69S,TNNT2:NM_001001431:exon8:c.G207A:p.S69S,TNNT2:NM_001276347:exon8:c.G207A:p.S69S,TNNT2:NM_000364:exon9:c.G237A:p.S79S,TNNT2:NM_001276345:exon9:c.G237A:p.S79S,TNNT2:NM_001276346:exon9:c.G234A:p.S78S;cytoBand=1q32.1;genomicSuperDups=.;esp6500siv2_all=0.0920;esp6500siv2_ea=0.0634;esp6500siv2_all=0.0920;esp6500siv2_ea=0.0634;1000g2015aug_all=0.0824681;avsnp147=rs3729845;Kaviar_AF=0.0622954;Kaviar_AC=9631;Kaviar_AN=154602;ExAC_ALL=0.0644;ExAC_AFR=0.1618;ExAC_AMR=0.0383;ExAC_EAS=0.0003;ExAC_FIN=0.0683;ExAC_NFE=0.0624;ExAC_OTH=0.0686;ExAC_SAS=0.0634;CLNALLELEID=52786;CLNDN=Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_restrictive_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C0340429,Orphanet:ORPHA217635,SNOMED_CT:233878008|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.1381;dpsi_zscore=-1.549;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0606;gnomAD_exome_AFR=0.1547;gnomAD_exome_AMR=0.0377;gnomAD_exome_ASJ=0.0614;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0.0662;gnomAD_exome_NFE=0.0619;gnomAD_exome_OTH=0.0628;gnomAD_exome_SAS=0.0639;gnomAD_genome_ALL=0.0841;gnomAD_genome_AFR=0.1542;gnomAD_genome_AMR=0.0489;gnomAD_genome_ASJ=0.0662;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0610;gnomAD_genome_NFE=0.0617;gnomAD_genome_OTH=0.0592;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 . . . . . . . 1:105:0,59 . . . 1:117:0,51 . . . . 1:154:0,83 . . . . . . . . . . . . . . . 1:89:0,46 . . . . . . . . . 1 201335899 rs1573230 C T 186.30 . #_unique_end_positions=,51;#_unique_start_positions=,45;AC=84;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9312;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9971;AN=84;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;CAF_dbsnp_common_v150_hg19_refseq=,0.01857|0.9814;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000364.3:c.233+67G>A|_NM_001001430.2:c.203+67G>A|_NM_001001431.2:c.203+67G>A|_NM_001001432.2:c.188+67G>A|_NM_001276345.1:c.233+67G>A|_NM_001276346.1:c.230+67G>A|_NM_001276347.1:c.203+67G>A;Coding_region_change_in_longest_transcript=,NM_001276347.1:c.203+67G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,1.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,1.0000;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,41;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TNNT2:7139;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7139;Genotype=,T/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:11949;Homo_sapiens_refseq_GRCh37.p13_Genes=,TNNT2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3190;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:191045;Non-synonymous=,-;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;QUAL=,200.0;RSPOS_dbsnp_common_v150_hg19_refseq=,201335899;RS_dbsnp_common_v150_hg19_refseq=,1573230;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,81;Read_coverage=,81;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;Reverse_read_coverage=,40;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,1.0000;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.0279209|0.972079;U5_dbsnp_common_v150_hg19_refseq=,U5;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05012848000515053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.947917;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,1;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,1;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.924107;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.0;db_xref=,GeneID:7139|HGNC:HGNC:11949|MIM:191045;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,troponin_T2|_cardiac_type;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TNNT2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1D|CMH2|CMPD2|cTnT|LVNC6|RCM3|TnTC;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TNNT2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q32.1;genomicSuperDups=.;esp6500siv2_all=0.9761;esp6500siv2_ea=0.9991;esp6500siv2_all=0.9761;esp6500siv2_ea=0.9991;1000g2015aug_all=0.98143;avsnp147=rs1573230;Kaviar_AF=0.947287;Kaviar_AC=24656;Kaviar_AN=26028;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0484;dpsi_zscore=0.291;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.9811;gnomAD_genome_AFR=0.9349;gnomAD_genome_AMR=0.9976;gnomAD_genome_ASJ=0.9901;gnomAD_genome_EAS=1;gnomAD_genome_FIN=1;gnomAD_genome_NFE=0.9994;gnomAD_genome_OTH=0.9969;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1/1:70:0,70 1/1:144:0,144 1/1:166:0,166 1/1:163:0,163 1/1:110:0,110 1/1:171:0,171 1/1:82:0,82 1/1:148:0,148 1/1:154:0,154 1/1:129:0,129 1/1:178:0,178 1/1:126:0,126 1/1:165:0,165 1/1:164:0,164 1/1:233:0,233 1/1:158:0,158 1/1:149:0,149 1/1:175:0,175 1/1:157:0,157 1/1:120:0,120 1/1:151:0,150 1/1:223:0,223 1/1:204:0,204 1/1:208:0,207 1/1:188:0,188 1/1:141:0,141 1/1:176:0,176 1/1:195:0,195 1/1:175:0,175 1/1:188:0,187 1/1:159:0,159 1/1:102:0,102 1/1:169:0,169 1/1:137:0,137 1/1:175:0,175 1/1:143:0,143 1/1:127:0,127 1/1:128:0,128 1/1:111:0,111 1/1:183:0,183 1/1:194:0,194 1/1:130:0,130 1 227069677 256184;rs11405 T C 187.85 . #_unique_end_positions=,64;#_unique_start_positions=,58;AC=62;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.8313;ALLELEID_clinvar_20171029_hg19=,249746;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7176;AN=62;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.36;CAF_dbsnp_common_v150_hg19_refseq=,0.2644|0.7356;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN043596|MedGen:CN169374|MedGen:CN239310;CLNDN_clinvar_20171029_hg19=,Early-Onset_Familial_Alzheimer_Disease|not_specified|Dilated_Cardiomyopathy|_Dominant;CLNHGVS_clinvar_20171029_hg19=,NC_000001.10:g.227069677T>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:3875;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000447.2:c.69T>C|_NM_012486.2:c.69T>C;Coding_region_change_in_longest_transcript=,NM_000447.2:c.69T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5427;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.8022;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,56;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,PSEN2:5664;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:5664;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:5664;Genotype=,C/C;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:9509;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:9509;Homo_sapiens_refseq_GRCh37.p13_Genes=,PSEN2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_000447.2|NM_012486.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3576;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5615|rna5616;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:600759;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:600759;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3576;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,227069677;RS_dbsnp_common_v150_hg19_refseq=,11405;Read_count=,133;Read_coverage=,133;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_000447.2|NM_012486.2;Reverse_read_coverage=,77;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7495;SF=0,1,2,3,4,5,6,7,8,9,10,11,14,15,16,17,18,19,20,21,22,23,25,27,28,29,30,31,32,34,35,36,37,38,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.213044|0.786956;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05012800030517053f000101;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.755102;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.833333;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.47561;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.576471;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.747126;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.546512;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.75;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.865169;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.77551;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.874126;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.775862;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.825893;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.503;db_xref=,GeneID:5664|HGNC:HGNC:9509|MIM:600759;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_000447.2|Genbank:NM_012486.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,presenilin_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,PSEN2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,PSEN2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,AD3L|AD4|CMD1V|PS2|STM2;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,presenilin_2|_transcript_variant_1|presenilin_2|_transcript_variant_2;transcript_id=,NM_000447.2|NM_012486.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=PSEN2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=PSEN2:NM_000447:exon4:c.T69C:p.A23A,PSEN2:NM_012486:exon4:c.T69C:p.A23A;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.7931;esp6500siv2_ea=0.7801;esp6500siv2_all=0.7931;esp6500siv2_ea=0.7801;1000g2015aug_all=0.735623;avsnp147=rs11405;Kaviar_AF=0.755857;Kaviar_AC=116857;Kaviar_AN=154602;ExAC_ALL=0.7603;ExAC_AFR=0.8168;ExAC_AMR=0.7404;ExAC_EAS=0.5626;ExAC_FIN=0.7863;ExAC_NFE=0.7801;ExAC_OTH=0.7841;ExAC_SAS=0.7508;CLNALLELEID=249746;CLNDN=Early-Onset_Familial_Alzheimer_Disease|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:CN043596|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.7289;dpsi_zscore=1.335;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.7569;gnomAD_exome_AFR=0.8162;gnomAD_exome_AMR=0.7408;gnomAD_exome_ASJ=0.7548;gnomAD_exome_EAS=0.5550;gnomAD_exome_FIN=0.7870;gnomAD_exome_NFE=0.7788;gnomAD_exome_OTH=0.7744;gnomAD_exome_SAS=0.7546;gnomAD_genome_ALL=0.7693;gnomAD_genome_AFR=0.8193;gnomAD_genome_AMR=0.7536;gnomAD_genome_ASJ=0.7682;gnomAD_genome_EAS=0.5455;gnomAD_genome_FIN=0.7845;gnomAD_genome_NFE=0.7619;gnomAD_genome_OTH=0.7643;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 1/1:110:0,110 1/1:173:0,173 1/1:122:0,122 1/1:132:0,132 1:102:0,48 1/1:159:0,159 1/1:92:0,92 1:107:0,54 1/1:170:0,170 1/1:131:0,131 1/1:158:0,158 1:159:0,81 . . 1/1:200:0,200 1/1:160:0,159 1:145:0,71 1/1:123:0,123 1/1:146:0,146 1:137:0,70 1/1:115:0,115 1:190:0,96 1:213:0,103 1/1:194:0,194 . 1:136:0,81 . 1/1:200:0,199 1/1:161:0,161 1/1:164:0,164 1/1:176:0,176 1/1:103:0,103 1:168:0,74 . 1:147:0,69 1/1:133:0,133 1/1:146:0,146 1:119:0,58 1/1:126:0,126 1/1:171:0,171 1/1:148:0,148 1:122:0,67 1 227069737 256180;rs6759 C T 194.98 . #_unique_end_positions=,68;#_unique_start_positions=,61;AC=48;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3646;AF_ESP_clinvar_20171029_hg19=,0.4895;AF_EXAC_clinvar_20171029_hg19=,0.49948;AF_TGP_clinvar_20171029_hg19=,0.4433;ALLELEID_clinvar_20171029_hg19=,249747;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4827;AN=48;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.85;CAF_dbsnp_common_v150_hg19_refseq=,0.5567|0.4433;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN043596|MedGen:CN169374|MedGen:CN239310;CLNDN_clinvar_20171029_hg19=,Early-Onset_Familial_Alzheimer_Disease|not_specified|Dilated_Cardiomyopathy|_Dominant;CLNHGVS_clinvar_20171029_hg19=,NC_000001.10:g.227069737C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:3889;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000447.2:c.129C>T|_NM_012486.2:c.129C>T;Coding_region_change_in_longest_transcript=,NM_000447.2:c.129C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3859;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5934;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,50;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,PSEN2:5664;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:5664;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:5664;Genotype=,T/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:9509;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:9509;Homo_sapiens_refseq_GRCh37.p13_Genes=,PSEN2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_000447.2|NM_012486.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3576;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5615|rna5616;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:600759;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:600759;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3576;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,227069737;RS_dbsnp_common_v150_hg19_refseq=,6759;Read_count=,135;Read_coverage=,135;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_000447.2|NM_012486.2;Reverse_read_coverage=,85;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4264;SF=0,1,2,3,4,5,7,8,9,10,11,14,15,16,17,18,19,20,21,22,25,27,28,29,30,31,32,34,35,36,37,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.521638|0.478362;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05012800030517053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.377551;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.610619;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.317073;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.452941;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.460227;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.372093;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.488372;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.35;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.59;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.444056;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.659091;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.342342;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.0;db_xref=,GeneID:5664|HGNC:HGNC:9509|MIM:600759;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_000447.2|Genbank:NM_012486.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,presenilin_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,PSEN2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,PSEN2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,AD3L|AD4|CMD1V|PS2|STM2;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,presenilin_2|_transcript_variant_1|presenilin_2|_transcript_variant_2;transcript_id=,NM_000447.2|NM_012486.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=PSEN2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=PSEN2:NM_000447:exon4:c.C129T:p.N43N,PSEN2:NM_012486:exon4:c.C129T:p.N43N;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.4895;esp6500siv2_ea=0.5388;esp6500siv2_all=0.4895;esp6500siv2_ea=0.5388;1000g2015aug_all=0.443291;avsnp147=rs6759;Kaviar_AF=0.494392;Kaviar_AC=76434;Kaviar_AN=154602;ExAC_ALL=0.4995;ExAC_AFR=0.3905;ExAC_AMR=0.5145;ExAC_EAS=0.4064;ExAC_FIN=0.5332;ExAC_NFE=0.5425;ExAC_OTH=0.5434;ExAC_SAS=0.4169;CLNALLELEID=249747;CLNDN=Alzheimer_disease,_type_4|Early-Onset_Familial_Alzheimer_Disease|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C1847200,OMIM:606889|MedGen:CN043596|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.2198;dpsi_zscore=0.760;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.5025;gnomAD_exome_AFR=0.3796;gnomAD_exome_AMR=0.5185;gnomAD_exome_ASJ=0.6122;gnomAD_exome_EAS=0.4051;gnomAD_exome_FIN=0.5361;gnomAD_exome_NFE=0.5342;gnomAD_exome_OTH=0.5450;gnomAD_exome_SAS=0.4195;gnomAD_genome_ALL=0.4770;gnomAD_genome_AFR=0.3866;gnomAD_genome_AMR=0.5371;gnomAD_genome_ASJ=0.6192;gnomAD_genome_EAS=0.3888;gnomAD_genome_FIN=0.5358;gnomAD_genome_NFE=0.5173;gnomAD_genome_OTH=0.5072;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 1/1:119:0,119 1:190:0,107 1/1:122:0,122 1/1:143:0,143 1:111:0,50 1:169:0,91 . 1:114:0,59 1/1:161:0,161 1/1:138:0,138 1/1:169:0,169 1:149:0,68 . . 1/1:223:0,223 1:166:0,90 1:167:0,80 1/1:145:0,145 1:145:0,80 1:137:0,74 1/1:143:0,143 1:193:0,96 1:239:0,118 . . 1:129:0,82 . 1/1:180:0,180 1/1:163:0,163 1:157:0,73 1/1:154:0,154 1/1:105:0,105 1:162:0,65 . 1:151:0,64 1:124:0,55 1/1:161:0,161 1:117:0,58 . 1:183:0,72 1:145:0,54 1:118:0,68 1 227071449 97995;rs58973334 G A 200.00 . #_unique_end_positions=,50;#_unique_start_positions=,49;AC=2;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0461;AF_ESP_clinvar_20171029_hg19=,0.0144;AF_EXAC_clinvar_20171029_hg19=,0.00990;AF_TGP_clinvar_20171029_hg19=,0.0180;ALLELEID_clinvar_20171029_hg19=,103887;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0072;AN=2;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_000438.2:p.Arg62His|_NP_036618.2:p.Arg62His;Amino_acid_change_in_longest_transcript=,NP_000438.2:p.Arg62His;BaseQRankSum=,0.16;CAF_dbsnp_common_v150_hg19_refseq=,0.982|0.01797;CLNDISDB_clinvar_20171029_hg19=,MedGen:C0002395|OMIM:104300|SNOMED_CT:26929004|MedGen:CN043596|MedGen:CN239310|MedGen:CN517202;CLNDN_clinvar_20171029_hg19=,Alzheimer's_disease|Early-Onset_Familial_Alzheimer_Disease|Dilated_Cardiomyopathy|_Dominant|not_provided;CLNHGVS_clinvar_20171029_hg19=,NC_000001.10:g.227071449G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:122949|UniProtKB_(protein):P49810#VAR_006461;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000447.2:c.185G>A|_NM_012486.2:c.185G>A;Coding_region_change_in_longest_transcript=,NM_000447.2:c.185G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,63;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,PSEN2:5664;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:5664;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:5664;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:9509;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:9509;Homo_sapiens_refseq_GRCh37.p13_Genes=,PSEN2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_000447.2|NM_012486.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3576;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5615|rna5616;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:600759;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:600759;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3576;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,227071449;RS_dbsnp_common_v150_hg19_refseq=,58973334;Read_count=,77;Read_coverage=,135;Read_direction_test_probability=,0.9884542049498696;Read_position_test_probability=,0.9291280493786838;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_000447.2|NM_012486.2;Reverse_read_coverage=,72;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0235;SF=29,40;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.982965|0.0170353;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050168000a05150436100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.532;db_xref=,GeneID:5664|HGNC:HGNC:9509|MIM:600759;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_000447.2|Genbank:NM_012486.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,presenilin_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,PSEN2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,PSEN2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,AD3L|AD4|CMD1V|PS2|STM2;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,presenilin_2|_transcript_variant_1|presenilin_2|_transcript_variant_2;transcript_id=,NM_000447.2|NM_012486.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=PSEN2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PSEN2:NM_000447:exon5:c.G185A:p.R62H,PSEN2:NM_012486:exon5:c.G185A:p.R62H;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0144;esp6500siv2_ea=0.0026;esp6500siv2_all=0.0144;esp6500siv2_ea=0.0026;1000g2015aug_all=0.0179712;avsnp147=rs58973334;Kaviar_AF=0.0091267;Kaviar_AC=1411;Kaviar_AN=154602;ExAC_ALL=0.0099;ExAC_AFR=0.0399;ExAC_AMR=0.0075;ExAC_EAS=0.0003;ExAC_FIN=0.0002;ExAC_NFE=0.0036;ExAC_OTH=0.0221;ExAC_SAS=0.0264;CLNALLELEID=103887;CLNDN=Alzheimer's_disease|Alzheimer_disease,_type_4|Early-Onset_Familial_Alzheimer_Disease|Dilated_Cardiomyopathy,_Dominant|not_provided;CLNDISDB=MedGen:C0002395,OMIM:104300,SNOMED_CT:26929004|MedGen:C1847200,OMIM:606889|MedGen:CN043596|MedGen:CN239310|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.206;SIFT_pred=T;Polyphen2_HDIV_score=0.09;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.018;Polyphen2_HVAR_pred=B;LRT_score=0.548;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=-0.345;MutationAssessor_pred=N;FATHMM_score=-5.02;FATHMM_pred=D;PROVEAN_score=-1.36;PROVEAN_pred=N;VEST3_score=0.054;CADD_raw=2.001;CADD_phred=16.22;DANN_score=0.997;fathmm-MKL_coding_score=0.050;fathmm-MKL_coding_pred=N;MetaSVM_score=0.771;MetaSVM_pred=D;MetaLR_score=0.404;MetaLR_pred=T;integrated_fitCons_score=0.732;integrated_confidence_value=0;GERP++_RS=-4.6;phyloP7way_vertebrate=-0.695;phyloP20way_mammalian=0.085;phastCons7way_vertebrate=0.043;phastCons20way_mammalian=0.904;SiPhy_29way_logOdds=7.020;GDI_full_10282015=.;dpsi_max_tissue=0.1089;dpsi_zscore=0.509;hgmdCODING=HGMD::Alzheimer_disease#9384602;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM981662#"Alzheimer_disease";gnomAD_exome_ALL=0.0086;gnomAD_exome_AFR=0.0408;gnomAD_exome_AMR=0.0062;gnomAD_exome_ASJ=0.0173;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0.0001;gnomAD_exome_NFE=0.0024;gnomAD_exome_OTH=0.0110;gnomAD_exome_SAS=0.0249;gnomAD_genome_ALL=0.0143;gnomAD_genome_AFR=0.0455;gnomAD_genome_AMR=0.0107;gnomAD_genome_ASJ=0.0166;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0015;gnomAD_genome_OTH=0.0081;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-3 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:122:0,71 . . . . . . . . . . 1:88:0,47 . 1 227071525 256181;rs1046240 C T 193.82 . #_unique_end_positions=,54;#_unique_start_positions=,45;AC=48;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3646;AF_ESP_clinvar_20171029_hg19=,0.4902;AF_EXAC_clinvar_20171029_hg19=,0.49907;AF_TGP_clinvar_20171029_hg19=,0.4433;ALLELEID_clinvar_20171029_hg19=,249748;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4827;AN=48;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.19;CAF_dbsnp_common_v150_hg19_refseq=,0.5567|0.4433;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN043596|MedGen:CN169374|MedGen:CN239310;CLNDN_clinvar_20171029_hg19=,Early-Onset_Familial_Alzheimer_Disease|not_specified|Dilated_Cardiomyopathy|_Dominant;CLNHGVS_clinvar_20171029_hg19=,NC_000001.10:g.227071525C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:3904;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000447.2:c.261C>T|_NM_012486.2:c.261C>T;Coding_region_change_in_longest_transcript=,NM_000447.2:c.261C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3859;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5934;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,42;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,PSEN2:5664;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:5664;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:5664;Genotype=,T/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:9509;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:9509;Homo_sapiens_refseq_GRCh37.p13_Genes=,PSEN2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_000447.2|NM_012486.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3576;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5615|rna5616;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:600759;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:600759;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3576;QUAL=,159.54589770191004;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,227071525;RS_dbsnp_common_v150_hg19_refseq=,1046240;Read_count=,93;Read_coverage=,93;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_000447.2|NM_012486.2;Reverse_read_coverage=,51;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4264;SF=0,1,2,3,4,5,7,8,9,10,11,14,15,16,17,18,19,20,21,22,25,27,28,29,30,31,32,34,35,36,37,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.521569|0.478431;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05012800030517053f000101;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.377551;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.611607;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.317073;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.447059;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.465909;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.369048;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.494048;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.355556;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.591837;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.444056;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.659091;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.340708;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.998;db_xref=,GeneID:5664|HGNC:HGNC:9509|MIM:600759;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_000447.2|Genbank:NM_012486.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,presenilin_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,PSEN2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,PSEN2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,AD3L|AD4|CMD1V|PS2|STM2;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,presenilin_2|_transcript_variant_1|presenilin_2|_transcript_variant_2;transcript_id=,NM_000447.2|NM_012486.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=PSEN2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=PSEN2:NM_000447:exon5:c.C261T:p.H87H,PSEN2:NM_012486:exon5:c.C261T:p.H87H;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.4902;esp6500siv2_ea=0.5395;esp6500siv2_all=0.4902;esp6500siv2_ea=0.5395;1000g2015aug_all=0.443291;avsnp147=rs1046240;Kaviar_AF=0.496235;Kaviar_AC=76719;Kaviar_AN=154602;ExAC_ALL=0.4991;ExAC_AFR=0.3877;ExAC_AMR=0.5158;ExAC_EAS=0.4064;ExAC_FIN=0.5331;ExAC_NFE=0.5418;ExAC_OTH=0.5452;ExAC_SAS=0.4170;CLNALLELEID=249748;CLNDN=Alzheimer_disease,_type_4|Early-Onset_Familial_Alzheimer_Disease|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C1847200,OMIM:606889|MedGen:CN043596|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0269;dpsi_zscore=0.179;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.5030;gnomAD_exome_AFR=0.3796;gnomAD_exome_AMR=0.5193;gnomAD_exome_ASJ=0.6124;gnomAD_exome_EAS=0.4051;gnomAD_exome_FIN=0.5363;gnomAD_exome_NFE=0.5348;gnomAD_exome_OTH=0.5458;gnomAD_exome_SAS=0.4194;gnomAD_genome_ALL=0.4774;gnomAD_genome_AFR=0.3867;gnomAD_genome_AMR=0.5383;gnomAD_genome_ASJ=0.6192;gnomAD_genome_EAS=0.3856;gnomAD_genome_FIN=0.5367;gnomAD_genome_NFE=0.5179;gnomAD_genome_OTH=0.5072;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 1/1:80:0,80 1:112:0,47 1/1:74:0,74 1/1:92:0,92 1:64:0,27 1:96:0,41 . 1:104:0,54 1/1:132:0,132 1/1:83:0,83 1/1:114:0,114 1:109:0,62 . . 1/1:151:0,151 1:114:0,50 1:106:0,48 1/1:115:0,115 1:97:0,46 1:93:0,43 1/1:94:0,94 1:154:0,65 1:182:0,70 . . 1:87:0,46 . 1/1:135:0,135 1/1:156:0,156 1:146:0,64 1/1:104:0,104 1/1:76:0,76 1:132:0,57 . 1:114:0,46 1:95:0,52 1/1:89:0,89 1:81:0,38 . 1:113:0,45 1:111:0,54 1:95:0,50 1 227076719 256186;rs147702142 G C 200.00 . #_unique_end_positions=,42;#_unique_start_positions=,35;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0031;AF_EXAC_clinvar_20171029_hg19=,0.00576;AF_TGP_clinvar_20171029_hg19=,0.0024;ALLELEID_clinvar_20171029_hg19=,249752;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0029;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.9976|.|0.002396;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN043596|MedGen:CN169374|MedGen:CN239310;CLNDN_clinvar_20171029_hg19=,Early-Onset_Familial_Alzheimer_Disease|not_specified|Dilated_Cardiomyopathy|_Dominant;CLNHGVS_clinvar_20171029_hg19=,NC_000001.10:g.227076719G>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_conflicting_interpretations;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:145597;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000447.2:c.756G>C|_NM_012486.2:c.756G>C;Coding_region_change_in_longest_transcript=,NM_000447.2:c.756G>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0099;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,59;GENEINFO_dbsnp_common_v150_hg19_refseq=,PSEN2:5664;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:5664;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:5664;Genotype=,C/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:9509;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:9509;Homo_sapiens_refseq_GRCh37.p13_Genes=,PSEN2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_000447.2|NM_012486.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3576;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5615|rna5616;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:600759;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:600759;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3576;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,227076719;RS_dbsnp_common_v150_hg19_refseq=,147702142;Read_count=,61;Read_coverage=,148;Read_direction_test_probability=,0.9916088887605539;Read_position_test_probability=,0.9834111961443683;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_000447.2|NM_012486.2;Reverse_read_coverage=,89;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=20;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.998386|.|0.00161423;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050028000305040436000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.898;db_xref=,GeneID:5664|HGNC:HGNC:9509|MIM:600759;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_000447.2|Genbank:NM_012486.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,presenilin_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,PSEN2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,PSEN2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,AD3L|AD4|CMD1V|PS2|STM2;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,presenilin_2|_transcript_variant_1|presenilin_2|_transcript_variant_2;transcript_id=,NM_000447.2|NM_012486.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=PSEN2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=PSEN2:NM_000447:exon8:c.G756C:p.A252A,PSEN2:NM_012486:exon8:c.G756C:p.A252A;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0031;esp6500siv2_ea=0.0041;esp6500siv2_all=0.0031;esp6500siv2_ea=0.0041;1000g2015aug_all=0.00239617;avsnp147=rs147702142;Kaviar_AF=0.0053169;Kaviar_AC=822;Kaviar_AN=154602;ExAC_ALL=0.0058;ExAC_AFR=0.0008;ExAC_AMR=0.0018;ExAC_EAS=0;ExAC_FIN=0.0228;ExAC_NFE=0.0078;ExAC_OTH=0.0034;ExAC_SAS=0;CLNALLELEID=249752;CLNDN=Early-Onset_Familial_Alzheimer_Disease|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:CN043596|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0886;dpsi_zscore=-0.414;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0055;gnomAD_exome_AFR=0.0006;gnomAD_exome_AMR=0.0024;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0238;gnomAD_exome_NFE=0.0064;gnomAD_exome_OTH=0.0051;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0063;gnomAD_genome_AFR=0.0008;gnomAD_genome_AMR=0.0060;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0223;gnomAD_genome_NFE=0.0063;gnomAD_genome_OTH=0.0112;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . 1:140:0,57 . . . . . . . . . . . . . . . . . . . . . 1 228399766 rs55971985 T C 184.50 . #_unique_end_positions=,7;#_unique_start_positions=,7;AC=52;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7057;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6441;AN=52;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.2738|0.7262;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001098623.2:c.282T>C|_NM_001271223.2:c.282T>C|_NM_052843.3:c.282T>C;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.282T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.8244;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6372;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,7;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,OBSCN:84033|C1orf145:574407;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:574407|GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:32047|HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,C1orf145|OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_052843.3|NM_001098623.2|NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3609|gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5674|rna5673|rna5672;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;Non-synonymous=,No;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,13.743602011507885;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,228399766;RS_dbsnp_common_v150_hg19_refseq=,55971985;Read_count=,7;Read_coverage=,36;Read_direction_test_probability=,0.922743627321193;Read_position_test_probability=,0.4956132949708384;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_052843.3|NM_001098623.2|NM_001271223.2;Reverse_read_coverage=,29;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.8027;SF=0,2,3,5,6,7,8,9,10,12,13,14,15,16,17,18,19,20,22,23,24,25,26,27,28,29,30,31,32,34,35,36,37,38,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.342149|0.657851;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050100080305170536000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.002;db_xref=,GeneID:574407|HGNC:HGNC:32047|GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_052843.3|Genbank:NM_001098623.2|Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,chromosome_1_open_reading_frame_145|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,C1orf145|OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lncRNA|protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_1|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_2|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_052843.3|NM_001098623.2|NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon2:c.T282C:p.A94A,OBSCN:NM_001271223:exon2:c.T282C:p.A94A,OBSCN:NM_052843:exon2:c.T282C:p.A94A;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.6409;esp6500siv2_ea=0.6178;esp6500siv2_all=0.6409;esp6500siv2_ea=0.6178;1000g2015aug_all=0.726238;avsnp147=rs55971985;Kaviar_AF=0.445602;Kaviar_AC=68891;Kaviar_AN=154602;ExAC_ALL=0.6937;ExAC_AFR=0.6981;ExAC_AMR=0.6408;ExAC_EAS=0.8338;ExAC_FIN=0.7538;ExAC_NFE=0.6233;ExAC_OTH=0.6301;ExAC_SAS=0.7563;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1930;dpsi_zscore=0.709;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.6560;gnomAD_exome_AFR=0.6872;gnomAD_exome_AMR=0.6053;gnomAD_exome_ASJ=0.6068;gnomAD_exome_EAS=0.8068;gnomAD_exome_FIN=0.6433;gnomAD_exome_NFE=0.6077;gnomAD_exome_OTH=0.6439;gnomAD_exome_SAS=0.7632;gnomAD_genome_ALL=0.6463;gnomAD_genome_AFR=0.6803;gnomAD_genome_AMR=0.5941;gnomAD_genome_ASJ=0.6490;gnomAD_genome_EAS=0.8193;gnomAD_genome_FIN=0.6427;gnomAD_genome_NFE=0.6101;gnomAD_genome_OTH=0.6674;Whole_Blood=Whole_Blood::0.347527::-0.32548;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:32:0,7 . 1:115:0,48 1/1:88:0,88 . 1/1:86:0,86 1:67:0,31 1:109:0,46 1/1:85:0,85 1:105:0,46 1/1:120:0,120 . 1/1:99:0,99 1:91:0,42 1:155:0,70 1:134:0,60 1:117:0,51 1/1:115:0,115 1:107:0,41 1/1:85:0,85 1:119:0,43 . 1:127:0,71 1:152:0,71 1:117:0,40 1/1:73:0,73 1:100:0,39 1/1:130:0,130 1/1:110:0,110 1:144:0,53 1/1:107:0,107 1:83:0,32 1/1:116:0,116 . 1/1:136:0,136 1/1:129:0,129 1:119:0,56 1:76:0,33 1:77:0,37 1:106:0,34 1:128:0,53 1/1:68:0,68 1 228399799 rs11582369 C T 200.00 . #_unique_end_positions=,43;#_unique_start_positions=,35;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0129;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0591;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.14;CAF_dbsnp_common_v150_hg19_refseq=,0.9493|0.05072;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001098623.2:c.315C>T|_NM_001271223.2:c.315C>T|_NM_052843.3:c.315C>T;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.315C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1210;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0338;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,19;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,OBSCN:84033|C1orf145:574407;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:574407|GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:32047|HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,C1orf145|OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_052843.3|NM_001098623.2|NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3609|gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5674|rna5673|rna5672;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;Non-synonymous=,No;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,228399799;RS_dbsnp_common_v150_hg19_refseq=,11582369;Read_count=,73;Read_coverage=,129;Read_direction_test_probability=,0.964662322049617;Read_position_test_probability=,0.9571759769337103;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_052843.3|NM_001098623.2|NM_001271223.2;Reverse_read_coverage=,110;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0409;SF=7;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.968196|0.0318038;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050100080305150136000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.001;db_xref=,GeneID:574407|HGNC:HGNC:32047|GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_052843.3|Genbank:NM_001098623.2|Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,chromosome_1_open_reading_frame_145|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,C1orf145|OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lncRNA|protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_1|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_2|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_052843.3|NM_001098623.2|NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon2:c.C315T:p.C105C,OBSCN:NM_001271223:exon2:c.C315T:p.C105C,OBSCN:NM_052843:exon2:c.C315T:p.C105C;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0314;esp6500siv2_ea=0.037;esp6500siv2_all=0.0314;esp6500siv2_ea=0.037;1000g2015aug_all=0.0507188;avsnp147=rs11582369;Kaviar_AF=0.0192236;Kaviar_AC=2972;Kaviar_AN=154602;ExAC_ALL=0.0412;ExAC_AFR=0.0359;ExAC_AMR=0.0857;ExAC_EAS=0.1364;ExAC_FIN=0;ExAC_NFE=0.0482;ExAC_OTH=0.0565;ExAC_SAS=0.0348;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0344;dpsi_zscore=-0.189;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0481;gnomAD_exome_AFR=0.0173;gnomAD_exome_AMR=0.0538;gnomAD_exome_ASJ=0.0347;gnomAD_exome_EAS=0.1213;gnomAD_exome_FIN=0.0612;gnomAD_exome_NFE=0.0415;gnomAD_exome_OTH=0.0422;gnomAD_exome_SAS=0.0339;gnomAD_genome_ALL=0.0447;gnomAD_genome_AFR=0.0179;gnomAD_genome_AMR=0.0636;gnomAD_genome_ASJ=0.0199;gnomAD_genome_EAS=0.1161;gnomAD_genome_FIN=0.0598;gnomAD_genome_NFE=0.0477;gnomAD_genome_OTH=0.0579;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . 1:114:0,64 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 228402047 rs1620111 A G 191.12 . #_unique_end_positions=,41;#_unique_start_positions=,43;AC=53;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6808;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6427;AN=53;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.89;CAF_dbsnp_common_v150_hg19_refseq=,0.2802|0.7198;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001098623.2:c.1431A>G|_NM_001271223.2:c.1431A>G|_NM_052843.3:c.1431A>G;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.1431A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.8244;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6372;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,54;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,OBSCN:84033|C1orf145:574407;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_052843.3|NM_001098623.2|NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5674|rna5673|rna5672;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;Non-synonymous=,No;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;R5_dbsnp_common_v150_hg19_refseq=,R5;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,228402047;RS_dbsnp_common_v150_hg19_refseq=,1620111;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,74;Read_coverage=,149;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.6825439482419333;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_052843.3|NM_001098623.2|NM_001271223.2;Reverse_read_coverage=,95;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.8047;SF=0,2,3,5,6,7,8,9,10,12,13,14,15,16,17,18,19,20,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.350082|0.649918;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05010002030517053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.663265;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.623894;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.841463;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.870588;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.744318;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.837209;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.794118;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.716667;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.62;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.762238;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.664773;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.734513;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.999;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_052843.3|Genbank:NM_001098623.2|Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_1|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_2|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_052843.3|NM_001098623.2|NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon4:c.A1431G:p.L477L,OBSCN:NM_001271223:exon4:c.A1431G:p.L477L,OBSCN:NM_052843:exon4:c.A1431G:p.L477L;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.6305;esp6500siv2_ea=0.6095;esp6500siv2_all=0.6305;esp6500siv2_ea=0.6095;1000g2015aug_all=0.719848;avsnp147=rs1620111;Kaviar_AF=0.0035899;Kaviar_AC=555;Kaviar_AN=154602;ExAC_ALL=0.6544;ExAC_AFR=0.6583;ExAC_AMR=0.6030;ExAC_EAS=0.8132;ExAC_FIN=0.6609;ExAC_NFE=0.6132;ExAC_OTH=0.6633;ExAC_SAS=0.7672;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.5775;dpsi_zscore=1.208;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.6515;gnomAD_exome_AFR=0.6615;gnomAD_exome_AMR=0.6027;gnomAD_exome_ASJ=0.6049;gnomAD_exome_EAS=0.8094;gnomAD_exome_FIN=0.6582;gnomAD_exome_NFE=0.6117;gnomAD_exome_OTH=0.6406;gnomAD_exome_SAS=0.7665;gnomAD_genome_ALL=0.6403;gnomAD_genome_AFR=0.6612;gnomAD_genome_AMR=0.5919;gnomAD_genome_ASJ=0.6490;gnomAD_genome_EAS=0.8168;gnomAD_genome_FIN=0.6403;gnomAD_genome_NFE=0.6098;gnomAD_genome_OTH=0.6663;Whole_Blood=Whole_Blood::0.352304::-0.320807;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:134:0,67 . 1:229:0,109 1/1:231:0,231 . 1/1:264:0,264 1:180:0,99 1:216:0,93 1/1:260:0,260 1:263:0,126 1/1:253:0,253 . 1/1:282:0,282 1:306:0,146 1:450:0,200 1:325:0,150 1:340:0,150 1/1:244:0,244 1:210:0,110 1/1:224:0,224 1:170:0,98 . 1:401:0,187 1:372:0,190 1:320:0,131 1/1:218:0,218 1:209:0,105 1/1:331:0,331 1/1:328:0,328 1:333:0,177 1/1:274:0,274 1:157:0,69 1/1:241:0,241 1:196:0,92 1/1:231:0,231 1/1:225:0,225 1:184:0,78 1:163:0,93 1:241:0,117 1:329:0,155 1:278:0,121 1/1:174:0,174 1 228402121 rs1771487 A G 193.53 . #_unique_end_positions=,36;#_unique_start_positions=,37;AC=53;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6815;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6427;AN=53;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001258152.2:p.Gln502Arg|_NP_443075.3:p.Gln502Arg|_NP_001092093.2:p.Gln502Arg;Amino_acid_change_in_longest_transcript=,NP_001258152.2:p.Gln502Arg;BaseQRankSum=,0.11;CAF_dbsnp_common_v150_hg19_refseq=,0.2804|.|0.7196;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001098623.2:c.1505A>G|_NM_001271223.2:c.1505A>G|_NM_052843.3:c.1505A>G;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.1505A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.8244;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6362;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,41;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,OBSCN:84033|C1orf145:574407;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_052843.3|NM_001098623.2|NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5674|rna5673|rna5672;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;R5_dbsnp_common_v150_hg19_refseq=,R5;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,228402121;RS_dbsnp_common_v150_hg19_refseq=,1771487;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,71;Read_coverage=,154;Read_direction_test_probability=,0.994669008282343;Read_position_test_probability=,0.5410302812345331;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_052843.3|NM_001098623.2|NM_001271223.2;Reverse_read_coverage=,113;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.8037;SF=0,2,3,5,6,7,8,9,10,12,13,14,15,16,17,18,19,20,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.350632|.|0.649368;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050100020a0515053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.663265;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.619469;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.841463;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.864706;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.744318;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.837209;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.788235;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.713483;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.625;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.762238;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.664773;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.732143;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_052843.3|Genbank:NM_001098623.2|Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_1|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_2|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_052843.3|NM_001098623.2|NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon4:c.A1505G:p.Q502R,OBSCN:NM_001271223:exon4:c.A1505G:p.Q502R,OBSCN:NM_052843:exon4:c.A1505G:p.Q502R;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.6257;esp6500siv2_ea=0.6065;esp6500siv2_all=0.6257;esp6500siv2_ea=0.6065;1000g2015aug_all=0.719649;avsnp147=rs1771487;Kaviar_AF=0.638129;Kaviar_AC=98656;Kaviar_AN=154602;ExAC_ALL=0.6539;ExAC_AFR=0.6577;ExAC_AMR=0.6032;ExAC_EAS=0.8131;ExAC_FIN=0.6616;ExAC_NFE=0.6122;ExAC_OTH=0.6633;ExAC_SAS=0.7671;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.989;SIFT_pred=T;Polyphen2_HDIV_score=0.018;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.016;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.939;MutationTaster_pred=P;MutationAssessor_score=0.31;MutationAssessor_pred=N;FATHMM_score=-1.0;FATHMM_pred=T;PROVEAN_score=-1.7;PROVEAN_pred=N;VEST3_score=0.247;CADD_raw=3.331;CADD_phred=22.9;DANN_score=0.997;fathmm-MKL_coding_score=0.948;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.001;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.767;integrated_confidence_value=0;GERP++_RS=5.27;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.199;phastCons7way_vertebrate=0.987;phastCons20way_mammalian=0.348;SiPhy_29way_logOdds=15.165;GDI_full_10282015=.;dpsi_max_tissue=0.1598;dpsi_zscore=0.639;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.6517;gnomAD_exome_AFR=0.6616;gnomAD_exome_AMR=0.6028;gnomAD_exome_ASJ=0.6046;gnomAD_exome_EAS=0.8095;gnomAD_exome_FIN=0.6583;gnomAD_exome_NFE=0.6117;gnomAD_exome_OTH=0.6398;gnomAD_exome_SAS=0.7663;gnomAD_genome_ALL=0.6403;gnomAD_genome_AFR=0.6600;gnomAD_genome_AMR=0.5923;gnomAD_genome_ASJ=0.6490;gnomAD_genome_EAS=0.8182;gnomAD_genome_FIN=0.6406;gnomAD_genome_NFE=0.6104;gnomAD_genome_OTH=0.6643;Whole_Blood=Whole_Blood::0.350949::-0.324149;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:137:0,63 . 1:201:0,107 1/1:170:0,170 . 1/1:234:0,234 1:193:0,101 1:204:0,81 1/1:219:0,219 1:239:0,122 1/1:266:0,266 . 1/1:241:0,241 1:258:0,130 1:355:0,175 1:283:0,125 1:288:0,136 1/1:225:0,225 1:168:0,84 1/1:204:0,204 1:151:0,76 . 1:372:0,172 1:318:0,155 1:271:0,112 1/1:212:0,212 1:209:0,120 1/1:319:0,319 1/1:315:0,315 1:276:0,135 1/1:248:0,248 1:139:0,62 1/1:228:0,228 1:173:0,91 1/1:198:0,198 1/1:211:0,211 1:159:0,69 1:158:0,91 1:172:0,76 1:297:0,129 1:238:0,113 1/1:161:0,161 1 228402508 rs2776853 C T 198.28 . #_unique_end_positions=,33;#_unique_start_positions=,31;AC=31;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3086;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3530;AN=31;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.38;CAF_dbsnp_common_v150_hg19_refseq=,0.7242|0.2758;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001098623.2:c.1537C>T|_NM_001271223.2:c.1537C>T|_NM_052843.3:c.1537C>T;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.1537C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1706;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3618;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,65;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,OBSCN:84033|C1orf145:574407;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_052843.3|NM_001098623.2|NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5674|rna5673|rna5672;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;Non-synonymous=,No;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;R5_dbsnp_common_v150_hg19_refseq=,R5;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,228402508;RS_dbsnp_common_v150_hg19_refseq=,2776853;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,48;Read_coverage=,90;Read_direction_test_probability=,0.9945123948259134;Read_position_test_probability=,0.9530037350564176;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_052843.3|NM_001098623.2|NM_001271223.2;Reverse_read_coverage=,25;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1963;SF=0,1,2,4,6,7,9,11,13,14,15,16,18,20,21,22,23,24,26,29,31,33,36,37,38,39,40;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.648784|0.351216;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05012802030517053e000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.003;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_052843.3|Genbank:NM_001098623.2|Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_1|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_2|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_052843.3|NM_001098623.2|NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon5:c.C1537T:p.L513L,OBSCN:NM_001271223:exon5:c.C1537T:p.L513L,OBSCN:NM_052843:exon5:c.C1537T:p.L513L;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.3723;esp6500siv2_ea=0.3900;esp6500siv2_all=0.3723;esp6500siv2_ea=0.3900;1000g2015aug_all=0.275759;avsnp147=rs2776853;Kaviar_AF=0.339226;Kaviar_AC=52445;Kaviar_AN=154602;ExAC_ALL=0.3644;ExAC_AFR=0.3617;ExAC_AMR=0.4145;ExAC_EAS=0.1936;ExAC_FIN=0.3585;ExAC_NFE=0.4016;ExAC_OTH=0.3505;ExAC_SAS=0.2633;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0519;dpsi_zscore=0.306;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3465;gnomAD_exome_AFR=0.3422;gnomAD_exome_AMR=0.3958;gnomAD_exome_ASJ=0.3952;gnomAD_exome_EAS=0.1829;gnomAD_exome_FIN=0.3413;gnomAD_exome_NFE=0.3857;gnomAD_exome_OTH=0.36;gnomAD_exome_SAS=0.2326;gnomAD_genome_ALL=0.3577;gnomAD_genome_AFR=0.3354;gnomAD_genome_AMR=0.4045;gnomAD_genome_ASJ=0.3510;gnomAD_genome_EAS=0.1783;gnomAD_genome_FIN=0.3589;gnomAD_genome_NFE=0.3888;gnomAD_genome_OTH=0.3337;Whole_Blood=Whole_Blood::0.349593::0.31404;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:80:0,41 1/1:115:0,115 1:150:0,78 . 1/1:85:0,85 . 1:103:0,51 1:170:0,81 . 1:149:0,72 . 1/1:147:0,147 . 1:127:0,66 1:223:0,103 1:158:0,74 1:171:0,77 . 1:134:0,59 . 1:110:0,43 1/1:137:0,137 1:228:0,119 1:171:0,85 1:171:0,91 . 1:136:0,56 . . 1:161:0,74 . 1:77:0,44 . 1:114:0,56 . . 1:119:0,52 1:113:0,51 1:100:0,44 1:167:0,76 1:144:0,71 . 1 228404198 rs61501937 G A 200.00 . #_unique_end_positions=,43;#_unique_start_positions=,42;AC=2;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0219;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0562;AN=2;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.28;CAF_dbsnp_common_v150_hg19_refseq=,0.9465|0.05351|.;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001098623.2:c.2172G>A|_NM_001271223.2:c.2172G>A|_NM_052843.3:c.2172G>A;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.2172G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1190;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0338;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,128;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,OBSCN:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_052843.3|NM_001098623.2|NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5674|rna5673|rna5672;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;Non-synonymous=,No;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,228404198;RS_dbsnp_common_v150_hg19_refseq=,61501937;Read_count=,82;Read_coverage=,213;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9557568160254403;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_052843.3|NM_001098623.2|NM_001271223.2;Reverse_read_coverage=,85;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0470;SF=4,33;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.960709|0.0392911|.;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05010000030515003e000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.872;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_052843.3|Genbank:NM_001098623.2|Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_1|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_2|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_052843.3|NM_001098623.2|NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon7:c.G2172A:p.A724A,OBSCN:NM_001271223:exon7:c.G2172A:p.A724A,OBSCN:NM_052843:exon7:c.G2172A:p.A724A;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0342;esp6500siv2_ea=0.0367;esp6500siv2_all=0.0342;esp6500siv2_ea=0.0367;1000g2015aug_all=0.0535144;avsnp147=rs61501937;Kaviar_AF=0.0294563;Kaviar_AC=4554;Kaviar_AN=154602;ExAC_ALL=0.0683;ExAC_AFR=0.0499;ExAC_AMR=0.1392;ExAC_EAS=0.1733;ExAC_FIN=0.1338;ExAC_NFE=0.0822;ExAC_OTH=0.0741;ExAC_SAS=0.0460;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.8417;dpsi_zscore=-1.372;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0521;gnomAD_exome_AFR=0.0319;gnomAD_exome_AMR=0.0597;gnomAD_exome_ASJ=0.0638;gnomAD_exome_EAS=0.1195;gnomAD_exome_FIN=0.0559;gnomAD_exome_NFE=0.0404;gnomAD_exome_OTH=0.0538;gnomAD_exome_SAS=0.0433;gnomAD_genome_ALL=0.0483;gnomAD_genome_AFR=0.0307;gnomAD_genome_AMR=0.0706;gnomAD_genome_ASJ=0.0464;gnomAD_genome_EAS=0.1178;gnomAD_genome_FIN=0.0610;gnomAD_genome_NFE=0.0461;gnomAD_genome_OTH=0.0601;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . 1:182:0,75 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:171:0,93 . . . . . . . . 1 228404368 rs144514297 G A 200.00 . #_unique_end_positions=,66;#_unique_start_positions=,62;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0015;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_443075.3:p.Arg781His|_NP_001258152.2:p.Arg781His|_NP_001092093.2:p.Arg781His;Amino_acid_change_in_longest_transcript=,NP_001258152.2:p.Arg781His;BaseQRankSum=,-0.65;CAF_dbsnp_common_v150_hg19_refseq=,0.999|0.0009984;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001098623.2:c.2342G>A|_NM_001271223.2:c.2342G>A|_NM_052843.3:c.2342G>A;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.2342G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0030;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,148;GENEINFO_dbsnp_common_v150_hg19_refseq=,OBSCN:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_052843.3|NM_001098623.2|NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5674|rna5673|rna5672;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,228404368;RS_dbsnp_common_v150_hg19_refseq=,144514297;Read_count=,154;Read_coverage=,319;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9955325662688604;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_052843.3|NM_001098623.2|NM_001271223.2;Reverse_read_coverage=,171;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=11;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.998214|0.00178596;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050000000a05040436000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.029;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_052843.3|Genbank:NM_001098623.2|Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_1|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_2|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_052843.3|NM_001098623.2|NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon7:c.G2342A:p.R781H,OBSCN:NM_001271223:exon7:c.G2342A:p.R781H,OBSCN:NM_052843:exon7:c.G2342A:p.R781H;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0014;esp6500siv2_ea=0.0019;esp6500siv2_all=0.0014;esp6500siv2_ea=0.0019;1000g2015aug_all=0.000998403;avsnp147=rs144514297;Kaviar_AF=0.0014101;Kaviar_AC=218;Kaviar_AN=154602;ExAC_ALL=0.0035;ExAC_AFR=0.0017;ExAC_AMR=0.0068;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0061;ExAC_OTH=0.0088;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.209;SIFT_pred=T;Polyphen2_HDIV_score=0.041;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.005;Polyphen2_HVAR_pred=B;LRT_score=0.339;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0.435;MutationAssessor_pred=N;FATHMM_score=3.5;FATHMM_pred=T;PROVEAN_score=-0.54;PROVEAN_pred=N;VEST3_score=0.058;CADD_raw=0.297;CADD_phred=5.666;DANN_score=0.851;fathmm-MKL_coding_score=0.021;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.932;MetaSVM_pred=T;MetaLR_score=0.012;MetaLR_pred=T;integrated_fitCons_score=0.651;integrated_confidence_value=0;GERP++_RS=-3.06;phyloP7way_vertebrate=-0.230;phyloP20way_mammalian=-0.840;phastCons7way_vertebrate=0.554;phastCons20way_mammalian=0.016;SiPhy_29way_logOdds=6.078;GDI_full_10282015=.;dpsi_max_tissue=1.3249;dpsi_zscore=1.697;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0018;gnomAD_exome_AFR=0.0010;gnomAD_exome_AMR=0.0026;gnomAD_exome_ASJ=0.0008;gnomAD_exome_EAS=7.651e-05;gnomAD_exome_FIN=6.357e-05;gnomAD_exome_NFE=0.0030;gnomAD_exome_OTH=0.0032;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0014;gnomAD_genome_AFR=0.0014;gnomAD_genome_AMR=0.0036;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0017;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:DP:CLCAD2 . . . . . . . . . . . 1:283:0,134 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 228404730 . G A 200.00 . #_unique_end_positions=,56;#_unique_start_positions=,52;AC=1;AN=1;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.03;Coding_region_change=,NM_001098623.2:c.2394G>A|_NM_001271223.2:c.2394G>A|_NM_052843.3:c.2394G>A;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.2394G>A;Forward_read_coverage=,157;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_052843.3|NM_001098623.2|NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5674|rna5673|rna5672;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;Non-synonymous=,No;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;Read_count=,98;Read_coverage=,223;Read_direction_test_probability=,0.6581872618231985;Read_position_test_probability=,0.9004019965549305;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_052843.3|NM_001098623.2|NM_001271223.2;Reverse_read_coverage=,66;SF=41;conservation_score=,0.097;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_052843.3|Genbank:NM_001098623.2|Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_1|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_2|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_052843.3|NM_001098623.2|NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon8:c.G2394A:p.L798L,OBSCN:NM_001271223:exon8:c.G2394A:p.L798L,OBSCN:NM_052843:exon8:c.G2394A:p.L798L;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs755527667;Kaviar_AF=3.88e-05;Kaviar_AC=6;Kaviar_AN=154602;ExAC_ALL=5.125e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0.0006;ExAC_NFE=3.106e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.3627;dpsi_zscore=0.975;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=2.868e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0003;gnomAD_exome_NFE=9.059e-06;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:195:0,92 1 228404763 rs112729914 C T 200.00 . #_unique_end_positions=,63;#_unique_start_positions=,55;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0635;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0058;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.9822|0.01777;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001098623.2:c.2427C>T|_NM_001271223.2:c.2427C>T|_NM_052843.3:c.2427C>T;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.2427C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,136;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,OBSCN:84033;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_052843.3|NM_001098623.2|NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5674|rna5673|rna5672;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;Non-synonymous=,No;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,228404763;RS_dbsnp_common_v150_hg19_refseq=,112729914;Read_count=,112;Read_coverage=,198;Read_direction_test_probability=,0.8465362193951053;Read_position_test_probability=,0.9048034284474041;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_052843.3|NM_001098623.2|NM_001271223.2;Reverse_read_coverage=,62;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=37;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.977813|0.0221871;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050100000305150536000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.0;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_052843.3|Genbank:NM_001098623.2|Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_1|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_2|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_052843.3|NM_001098623.2|NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon8:c.C2427T:p.A809A,OBSCN:NM_001271223:exon8:c.C2427T:p.A809A,OBSCN:NM_052843:exon8:c.C2427T:p.A809A;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0149;esp6500siv2_ea=0.0004;esp6500siv2_all=0.0149;esp6500siv2_ea=0.0004;1000g2015aug_all=0.0177716;avsnp147=rs112729914;Kaviar_AF=0.0048253;Kaviar_AC=746;Kaviar_AN=154602;ExAC_ALL=0.0050;ExAC_AFR=0.0549;ExAC_AMR=0.0040;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0003;ExAC_OTH=0;ExAC_SAS=0.0001;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0812;dpsi_zscore=-0.389;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0040;gnomAD_exome_AFR=0.0513;gnomAD_exome_AMR=0.0044;gnomAD_exome_ASJ=0.0007;gnomAD_exome_EAS=5.807e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0002;gnomAD_exome_OTH=0.0031;gnomAD_exome_SAS=9.747e-05;gnomAD_genome_ALL=0.0141;gnomAD_genome_AFR=0.0497;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.67e-05;gnomAD_genome_OTH=0.0031;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:182:0,101 . . . . 1 228407059 rs141906801 G T 200.00 . #_unique_end_positions=,80;#_unique_start_positions=,73;AC=2;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0015;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0115;AN=2;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.63;CAF_dbsnp_common_v150_hg19_refseq=,0.9864|.|0.01358;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001098623.2:c.2653+2070G>T|_NM_001271223.2:c.2688G>T|_NM_052843.3:c.2653+2070G>T;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.2688G>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0308;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,268;GENEINFO_dbsnp_common_v150_hg19_refseq=,OBSCN:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,G/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5672;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;Non-synonymous=,No;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,228407059;RS_dbsnp_common_v150_hg19_refseq=,141906801;Read_count=,210;Read_coverage=,411;Read_direction_test_probability=,0.9955642081778071;Read_position_test_probability=,0.6868976505234354;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001271223.2;Reverse_read_coverage=,143;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0276;SF=28,40;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.982037|.|0.0179626;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050100080305140436000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.0;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001271223:exon9:c.G2688T:p.A896A;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.0135783;avsnp147=rs141906801;Kaviar_AF=0.0252843;Kaviar_AC=3909;Kaviar_AN=154602;ExAC_ALL=0.0284;ExAC_AFR=0.0063;ExAC_AMR=0.0124;ExAC_EAS=0.0004;ExAC_FIN=0.0241;ExAC_NFE=0.0377;ExAC_OTH=0.0270;ExAC_SAS=0.0309;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.2908;dpsi_zscore=-1.624;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0255;gnomAD_exome_AFR=0.0048;gnomAD_exome_AMR=0.0111;gnomAD_exome_ASJ=0.0244;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0.0207;gnomAD_exome_NFE=0.0369;gnomAD_exome_OTH=0.0235;gnomAD_exome_SAS=0.0286;gnomAD_genome_ALL=0.0231;gnomAD_genome_AFR=0.0063;gnomAD_genome_AMR=0.0120;gnomAD_genome_ASJ=0.0232;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0178;gnomAD_genome_NFE=0.0370;gnomAD_genome_OTH=0.0275;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:360:0,182 . . . . . . . . . . . 1:261:0,127 . 1 228407260 rs1771484 G A 193.90 . #_unique_end_positions=,38;#_unique_start_positions=,30;AC=31;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3147;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3487;AN=31;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.88;CAF_dbsnp_common_v150_hg19_refseq=,0.7228|0.2772;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001098623.2:c.2653+2271G>A|_NM_001271223.2:c.2889G>A|_NM_052843.3:c.2653+2271G>A;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.2889G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1746;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3588;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,47;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,OBSCN:84033;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5672;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;Non-synonymous=,No;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,228407260;RS_dbsnp_common_v150_hg19_refseq=,1771484;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,61;Read_coverage=,134;Read_direction_test_probability=,0.7801943435621654;Read_position_test_probability=,0.49086579018070053;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001271223.2;Reverse_read_coverage=,87;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1973;SF=0,1,2,4,5,6,9,11,13,14,15,16,18,20,21,22,23,24,26,29,31,33,36,37,38,39,40;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.64875|0.35125;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05010008030517013f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.375;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0681818;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0813954;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.254237;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.998;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001271223:exon9:c.G2889A:p.E963E;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.277157;avsnp147=rs1771484;Kaviar_AF=0.319084;Kaviar_AC=49331;Kaviar_AN=154602;ExAC_ALL=0.3831;ExAC_AFR=0.3814;ExAC_AMR=0.4348;ExAC_EAS=0.2162;ExAC_FIN=0.3782;ExAC_NFE=0.4158;ExAC_OTH=0.3765;ExAC_SAS=0.2858;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=2.9351;dpsi_zscore=2.221;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3448;gnomAD_exome_AFR=0.3413;gnomAD_exome_AMR=0.3928;gnomAD_exome_ASJ=0.3944;gnomAD_exome_EAS=0.1891;gnomAD_exome_FIN=0.3432;gnomAD_exome_NFE=0.3813;gnomAD_exome_OTH=0.3583;gnomAD_exome_SAS=0.2348;gnomAD_genome_ALL=0.3575;gnomAD_genome_AFR=0.3392;gnomAD_genome_AMR=0.4033;gnomAD_genome_ASJ=0.3510;gnomAD_genome_EAS=0.1828;gnomAD_genome_FIN=0.3627;gnomAD_genome_NFE=0.3852;gnomAD_genome_OTH=0.3313;Whole_Blood=Whole_Blood::0.347826::0.307926;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:109:0,51 1/1:218:0,218 1:212:0,97 . 1/1:171:0,171 1:285:0,105 1:192:0,86 . . 1:232:0,98 . 1/1:228:0,228 . 1:273:0,128 1:343:0,164 1:254:0,106 1:255:0,119 . 1:217:0,100 . 1:235:0,118 1/1:210:0,210 1:391:0,171 1:295:0,139 1:332:0,140 . 1:201:0,93 . . 1:272:0,137 . 1:172:0,88 . 1:177:0,77 . . 1:189:0,95 1:194:0,93 1:191:0,103 1:286:0,153 1:253:0,115 . 1 228412197 rs1771481 C T 200.00 . #_unique_end_positions=,41;#_unique_start_positions=,38;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1362;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0115;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.81;CAF_dbsnp_common_v150_hg19_refseq=,0.9623|0.03774;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001098623.2:c.2691C>T|_NM_001271223.2:c.2967C>T|_NM_052843.3:c.2691C>T;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.2967C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,137;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,OBSCN:84033;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_052843.3|NM_001098623.2|NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5674|rna5673|rna5672;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;Non-synonymous=,No;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,228412197;RS_dbsnp_common_v150_hg19_refseq=,1771481;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,74;Read_coverage=,185;Read_direction_test_probability=,0.9889352955386964;Read_position_test_probability=,0.8474004458674328;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_052843.3|NM_001098623.2|NM_001271223.2;Reverse_read_coverage=,48;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=37;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.953393|0.0466067;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05010008030515053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.183673;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.138889;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.0594406;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.128319;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.001;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_052843.3|Genbank:NM_001098623.2|Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_1|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_2|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_052843.3|NM_001098623.2|NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon9:c.C2691T:p.R897R,OBSCN:NM_052843:exon9:c.C2691T:p.R897R,OBSCN:NM_001271223:exon10:c.C2967T:p.R989R;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0299;esp6500siv2_ea=0.0005;esp6500siv2_all=0.0299;esp6500siv2_ea=0.0005;1000g2015aug_all=0.0377396;avsnp147=rs1771481;Kaviar_AF=0.0097541;Kaviar_AC=1508;Kaviar_AN=154602;ExAC_ALL=0.0100;ExAC_AFR=0.1132;ExAC_AMR=0.0066;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0003;ExAC_OTH=0.0022;ExAC_SAS=0.0001;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.2248;dpsi_zscore=1.648;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0081;gnomAD_exome_AFR=0.1096;gnomAD_exome_AMR=0.0071;gnomAD_exome_ASJ=0.0007;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0003;gnomAD_exome_OTH=0.0051;gnomAD_exome_SAS=6.498e-05;gnomAD_genome_ALL=0.0293;gnomAD_genome_AFR=0.1027;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0004;gnomAD_genome_OTH=0.0041;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:173:0,73 . . . . 1 228412227 rs1757153;rs1771480 TG CA 200.00 . #_unique_end_positions=,56;#_unique_start_positions=,57;AC=32;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3351|0.5885;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3559|0.4020;AN=32;Amino_acid_change=,NP_443075.3:p.Ala908Thr|_NP_001258152.2:p.Ala1000Thr|_NP_001092093.2:p.Ala908Thr;Amino_acid_change_in_longest_transcript=,NP_001258152.2:p.Ala1000Thr;BaseQRankSum=,-0.32;Coding_region_change=,NM_001098623.2:c.2721_2722delinsCA|_NM_001271223.2:c.2997_2998delinsCA|_NM_052843.3:c.2721_2722delinsCA;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.2997_2998delinsCA;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1756|0.3849;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3618|0.3668;Exact_match=,1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,155;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,complex;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_052843.3|NM_001098623.2|NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5674|rna5673|rna5672;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;Read_count=,126;Read_coverage=,240;Read_direction_test_probability=,0.9846064756534383;Read_position_test_probability=,0.9950585600000017;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_052843.3|NM_001098623.2|NM_001271223.2;Reverse_read_coverage=,85;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1963|0.2577;SF=0,1,2,4,5,6,9,11,13,14,15,16,18,20,21,22,23,24,26,29,31,33,35,36,37,38,39,40;conservation_score=,0.7845;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_052843.3|Genbank:NM_001098623.2|Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_1|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_2|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_052843.3|NM_001098623.2|NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonframeshift_substitution;AAChange.refGene=OBSCN:NM_001098623:exon9:c.2721_2722CA,OBSCN:NM_052843:exon9:c.2721_2722CA,OBSCN:NM_001271223:exon10:c.2997_2998CA;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs386640006;Kaviar_AF=0.0134927;Kaviar_AC=2086;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=12 GT:DP:CLCAD2 1:208:0,107 1/1:291:0,290 1:247:0,116 . 1/1:204:0,204 1:341:0,137 1:233:0,102 . . 1:289:0,127 . 1/1:281:0,281 . 1:314:0,146 1:486:0,213 1:323:0,152 1:313:0,150 . 1:273:0,139 . 1:245:0,101 1/1:261:0,261 1:439:0,222 1:393:0,196 1:335:0,147 . 1:296:0,152 . . 1:415:0,167 . 1:189:0,88 . 1:247:0,118 . 1:312:0,143 1:245:0,98 1:223:0,100 1:255:0,110 1:305:0,161 1:294:0,134 . 1 228412308 rs1757152 G A 195.56 . #_unique_end_positions=,52;#_unique_start_positions=,58;AC=32;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5885;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4020;AN=32;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.5875|0.4125;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001098623.2:c.2802G>A|_NM_001271223.2:c.3078G>A|_NM_052843.3:c.2802G>A;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.3078G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3839;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3678;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,136;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,OBSCN:84033;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_052843.3|NM_001098623.2|NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5674|rna5673|rna5672;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;Non-synonymous=,No;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,228412308;RS_dbsnp_common_v150_hg19_refseq=,1757152;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,132;Read_coverage=,254;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9734033261980584;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_052843.3|NM_001098623.2|NM_001271223.2;Reverse_read_coverage=,118;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2577;SF=0,1,2,4,5,6,9,11,13,14,15,16,18,20,21,22,23,24,26,29,31,33,35,36,37,38,39,40;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.531186|0.468814;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05010008030517053f000101;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.581633;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.375;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.304878;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.297619;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.306818;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.380952;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.345238;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.655172;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.428571;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.700704;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.356322;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.530973;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.0;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_052843.3|Genbank:NM_001098623.2|Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_1|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_2|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_052843.3|NM_001098623.2|NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon9:c.G2802A:p.S934S,OBSCN:NM_052843:exon9:c.G2802A:p.S934S,OBSCN:NM_001271223:exon10:c.G3078A:p.S1026S;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.4471;esp6500siv2_ea=0.3925;esp6500siv2_all=0.4471;esp6500siv2_ea=0.3925;1000g2015aug_all=0.41254;avsnp147=rs1757152;Kaviar_AF=0.394186;Kaviar_AC=60942;Kaviar_AN=154602;ExAC_ALL=0.4010;ExAC_AFR=0.5867;ExAC_AMR=0.4760;ExAC_EAS=0.4144;ExAC_FIN=0.3495;ExAC_NFE=0.3933;ExAC_OTH=0.3641;ExAC_SAS=0.2848;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-3.0063;dpsi_zscore=-2.156;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.4006;gnomAD_exome_AFR=0.5865;gnomAD_exome_AMR=0.4696;gnomAD_exome_ASJ=0.4087;gnomAD_exome_EAS=0.4183;gnomAD_exome_FIN=0.3520;gnomAD_exome_NFE=0.3930;gnomAD_exome_OTH=0.3962;gnomAD_exome_SAS=0.2840;gnomAD_genome_ALL=0.4421;gnomAD_genome_AFR=0.5710;gnomAD_genome_AMR=0.4690;gnomAD_genome_ASJ=0.3775;gnomAD_genome_EAS=0.3914;gnomAD_genome_FIN=0.3716;gnomAD_genome_NFE=0.3944;gnomAD_genome_OTH=0.3569;Whole_Blood=Whole_Blood::0.398374::0.323916;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:226:0,120 1/1:292:0,292 1:291:0,148 . 1/1:224:0,224 1:363:0,138 1:224:0,94 . . 1:285:0,113 . 1/1:288:0,288 . 1:298:0,120 1:508:0,224 1:347:0,169 1:363:0,167 . 1:259:0,126 . 1:221:0,98 1/1:291:0,291 1:437:0,222 1:372:0,170 1:346:0,152 . 1:291:0,127 . . 1:382:0,170 . 1:196:0,72 . 1:237:0,91 . 1:273:0,119 1:242:0,118 1:226:0,110 1:245:0,118 1:306:0,146 1:318:0,148 . 1 228431095 rs1771455 A G 192.46 . #_unique_end_positions=,40;#_unique_start_positions=,36;AC=58;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7095;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6542;AN=58;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.14;CAF_dbsnp_common_v150_hg19_refseq=,0.3834|0.6166;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001098623.2:c.3141A>G|_NM_001271223.2:c.3417A>G|_NM_052843.3:c.3141A>G;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.3417A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5992;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6412;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,46;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,OBSCN:84033;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_052843.3|NM_001098623.2|NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5674|rna5673|rna5672;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;Non-synonymous=,No;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,228431095;RS_dbsnp_common_v150_hg19_refseq=,1771455;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,62;Read_coverage=,117;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9978626204111354;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_052843.3|NM_001098623.2|NM_001271223.2;Reverse_read_coverage=,71;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4571;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,18,19,20,21,22,23,24,25,26,27,29,31,32,33,34,35,36,37,38,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.323877|0.676123;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05010008030517053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.732143;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.573529;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.604651;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.657407;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.0;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_052843.3|Genbank:NM_001098623.2|Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_1|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_2|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_052843.3|NM_001098623.2|NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon10:c.A3141G:p.T1047T,OBSCN:NM_052843:exon10:c.A3141G:p.T1047T,OBSCN:NM_001271223:exon11:c.A3417G:p.T1139T;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.7003;esp6500siv2_ea=0.6828;esp6500siv2_all=0.7003;esp6500siv2_ea=0.6828;1000g2015aug_all=0.616613;avsnp147=rs1771455;Kaviar_AF=0.640968;Kaviar_AC=99095;Kaviar_AN=154602;ExAC_ALL=0.6499;ExAC_AFR=0.7051;ExAC_AMR=0.6700;ExAC_EAS=0.5783;ExAC_FIN=0.7014;ExAC_NFE=0.6797;ExAC_OTH=0.6205;ExAC_SAS=0.5015;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.4947;dpsi_zscore=1.777;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.6494;gnomAD_exome_AFR=0.7020;gnomAD_exome_AMR=0.6802;gnomAD_exome_ASJ=0.6343;gnomAD_exome_EAS=0.5779;gnomAD_exome_FIN=0.6980;gnomAD_exome_NFE=0.6767;gnomAD_exome_OTH=0.6502;gnomAD_exome_SAS=0.5002;gnomAD_genome_ALL=0.6885;gnomAD_genome_AFR=0.7037;gnomAD_genome_AMR=0.6921;gnomAD_genome_ASJ=0.6093;gnomAD_genome_EAS=0.5489;gnomAD_genome_FIN=0.7149;gnomAD_genome_NFE=0.6910;gnomAD_genome_OTH=0.6711;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:102:0,54 1/1:136:0,136 1/1:113:0,113 1:140:0,61 1/1:127:0,127 1/1:132:0,132 1:94:0,36 1/1:130:0,130 1:107:0,57 1:145:0,82 1:141:0,71 1/1:141:0,141 1:158:0,69 1/1:150:0,150 1/1:164:0,164 1:156:0,77 1:134:0,65 . 1/1:108:0,108 1:103:0,59 1/1:170:0,170 1/1:128:0,128 1/1:207:0,207 1:149:0,70 1/1:162:0,162 1:106:0,48 1/1:140:0,140 1:166:0,89 . 1:162:0,61 . 1/1:87:0,87 1/1:111:0,111 1:108:0,67 1:134:0,72 1/1:133:0,133 1/1:150:0,150 1/1:143:0,143 1:133:0,57 1:140:0,65 1:134:0,64 1:118:0,55 1 228432264 rs41305731 A T 200.00 . #_unique_end_positions=,58;#_unique_start_positions=,52;AC=3;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0008;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0159;AN=3;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001258152.2:p.His1250Leu|_NP_001092093.2:p.His1158Leu|_NP_443075.3:p.His1158Leu;Amino_acid_change_in_longest_transcript=,NP_001258152.2:p.His1250Leu;BaseQRankSum=,-0.47;CAF_dbsnp_common_v150_hg19_refseq=,0.9828|0.01717;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001098623.2:c.3473A>T|_NM_001271223.2:c.3749A>T|_NM_052843.3:c.3473A>T;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.3749A>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0457;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,46;GENEINFO_dbsnp_common_v150_hg19_refseq=,OBSCN:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,A/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_052843.3|NM_001098623.2|NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5674|rna5673|rna5672;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,228432264;RS_dbsnp_common_v150_hg19_refseq=,41305731;Read_count=,117;Read_coverage=,247;Read_direction_test_probability=,0.5408065305305815;Read_position_test_probability=,0.6414819973799738;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_052843.3|NM_001098623.2|NM_001271223.2;Reverse_read_coverage=,201;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0286;SF=14,21,29;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.975203|0.0247974;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050100080a05140436000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.124;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_052843.3|Genbank:NM_001098623.2|Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_1|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_2|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_052843.3|NM_001098623.2|NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon11:c.A3473T:p.H1158L,OBSCN:NM_052843:exon11:c.A3473T:p.H1158L,OBSCN:NM_001271223:exon12:c.A3749T:p.H1250L;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0297;esp6500siv2_ea=0.0401;esp6500siv2_all=0.0297;esp6500siv2_ea=0.0401;1000g2015aug_all=0.0171725;avsnp147=rs41305731;Kaviar_AF=0.031345;Kaviar_AC=4846;Kaviar_AN=154602;ExAC_ALL=0.0324;ExAC_AFR=0.0064;ExAC_AMR=0.0147;ExAC_EAS=0.0005;ExAC_FIN=0.0422;ExAC_NFE=0.0425;ExAC_OTH=0.0329;ExAC_SAS=0.0323;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.664;SIFT_pred=T;Polyphen2_HDIV_score=0.558;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.108;Polyphen2_HVAR_pred=B;LRT_score=0.085;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0.72;MutationAssessor_pred=N;FATHMM_score=3.69;FATHMM_pred=T;PROVEAN_score=-1.87;PROVEAN_pred=N;VEST3_score=0.219;CADD_raw=0.066;CADD_phred=3.252;DANN_score=0.760;fathmm-MKL_coding_score=0.004;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.889;MetaSVM_pred=T;MetaLR_score=0.002;MetaLR_pred=T;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=3.39;phyloP7way_vertebrate=1.039;phyloP20way_mammalian=1.059;phastCons7way_vertebrate=0.538;phastCons20way_mammalian=0.003;SiPhy_29way_logOdds=9.904;GDI_full_10282015=.;dpsi_max_tissue=-1.0467;dpsi_zscore=-1.497;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0314;gnomAD_exome_AFR=0.0070;gnomAD_exome_AMR=0.0155;gnomAD_exome_ASJ=0.0400;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0.0404;gnomAD_exome_NFE=0.0419;gnomAD_exome_OTH=0.0335;gnomAD_exome_SAS=0.0308;gnomAD_genome_ALL=0.0282;gnomAD_genome_AFR=0.0076;gnomAD_genome_AMR=0.0239;gnomAD_genome_ASJ=0.0563;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0452;gnomAD_genome_NFE=0.0395;gnomAD_genome_OTH=0.0214;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . . . . . . 1:229:0,113 . . . . . . 1:169:0,78 . . . . . . . 1:166:0,89 . . . . . . . . . . . . 1 228433217 rs2487384 A G 190.59 . #_unique_end_positions=,55;#_unique_start_positions=,48;AC=58;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7095;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6542;AN=58;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.08;CAF_dbsnp_common_v150_hg19_refseq=,0.3834|0.6166;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001098623.2:c.3585A>G|_NM_001271223.2:c.3861A>G|_NM_052843.3:c.3585A>G;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.3861A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5992;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6412;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,129;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,OBSCN:84033;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_052843.3|NM_001098623.2|NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5674|rna5673|rna5672;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;Non-synonymous=,No;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,228433217;RS_dbsnp_common_v150_hg19_refseq=,2487384;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,100;Read_coverage=,180;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9976293221446852;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_052843.3|NM_001098623.2|NM_001271223.2;Reverse_read_coverage=,51;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4571;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,18,19,20,21,22,23,24,25,26,27,29,31,32,33,34,35,36,37,38,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.323911|0.676089;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050100080305170137000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.683333;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.466667;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.577778;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.698276;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.01;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_052843.3|Genbank:NM_001098623.2|Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_1|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_2|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_052843.3|NM_001098623.2|NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon12:c.A3585G:p.T1195T,OBSCN:NM_052843:exon12:c.A3585G:p.T1195T,OBSCN:NM_001271223:exon13:c.A3861G:p.T1287T;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.6987;esp6500siv2_ea=0.6825;esp6500siv2_all=0.6987;esp6500siv2_ea=0.6825;1000g2015aug_all=0.616613;avsnp147=rs2487384;Kaviar_AF=0.639436;Kaviar_AC=98858;Kaviar_AN=154602;ExAC_ALL=0.6502;ExAC_AFR=0.7041;ExAC_AMR=0.6695;ExAC_EAS=0.5806;ExAC_FIN=0.7014;ExAC_NFE=0.6794;ExAC_OTH=0.6189;ExAC_SAS=0.5038;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0828;dpsi_zscore=0.428;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.6499;gnomAD_exome_AFR=0.7019;gnomAD_exome_AMR=0.6806;gnomAD_exome_ASJ=0.6341;gnomAD_exome_EAS=0.5788;gnomAD_exome_FIN=0.6977;gnomAD_exome_NFE=0.6768;gnomAD_exome_OTH=0.6507;gnomAD_exome_SAS=0.5032;gnomAD_genome_ALL=0.6889;gnomAD_genome_AFR=0.7043;gnomAD_genome_AMR=0.6914;gnomAD_genome_ASJ=0.6093;gnomAD_genome_EAS=0.5509;gnomAD_genome_FIN=0.7152;gnomAD_genome_NFE=0.6913;gnomAD_genome_OTH=0.6724;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:161:0,88 1/1:198:0,198 1/1:201:0,201 1:241:0,107 1/1:171:0,171 1/1:225:0,225 1:160:0,80 1/1:174:0,174 1:212:0,84 1:204:0,91 1:207:0,96 1/1:194:0,194 1:208:0,99 1/1:203:0,203 1/1:296:0,296 1:206:0,107 1:236:0,133 . 1/1:152:0,152 1:182:0,96 1/1:198:0,198 1/1:190:0,190 1/1:273:0,273 1:223:0,102 1/1:226:0,226 1:176:0,87 1/1:173:0,173 1:260:0,118 . 1:239:0,113 . 1/1:176:0,176 1/1:205:0,205 1:159:0,67 1:233:0,111 1/1:241:0,241 1/1:210:0,210 1/1:160:0,160 1:169:0,74 1:205:0,92 1:213:0,116 1:201:0,93 1 228434395 rs7517088 T C 192.43 . #_unique_end_positions=,47;#_unique_start_positions=,48;AC=58;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7133;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6542;AN=58;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.13;CAF_dbsnp_common_v150_hg19_refseq=,0.3824|0.6176;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001098623.2:c.3924T>C|_NM_001271223.2:c.4200T>C|_NM_052843.3:c.3924T>C;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.4200T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5992;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6412;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,98;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,OBSCN:84033;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_052843.3|NM_001098623.2|NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5674|rna5673|rna5672;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;Non-synonymous=,No;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,228434395;RS_dbsnp_common_v150_hg19_refseq=,7517088;Read_count=,103;Read_coverage=,198;Read_direction_test_probability=,0.922880228418087;Read_position_test_probability=,0.8286784287810731;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_052843.3|NM_001098623.2|NM_001271223.2;Reverse_read_coverage=,100;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4571;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,18,19,20,21,22,23,24,25,26,27,29,31,32,33,34,35,36,37,38,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.323602|0.676398;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05010008030517053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.673469;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.597345;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.560976;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.494118;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.522727;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.488372;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.604651;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.638889;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.62;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.755245;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.568182;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.676991;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.211;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_052843.3|Genbank:NM_001098623.2|Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_1|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_2|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_052843.3|NM_001098623.2|NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon13:c.T3924C:p.A1308A,OBSCN:NM_052843:exon13:c.T3924C:p.A1308A,OBSCN:NM_001271223:exon14:c.T4200C:p.A1400A;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.6989;esp6500siv2_ea=0.6833;esp6500siv2_all=0.6989;esp6500siv2_ea=0.6833;1000g2015aug_all=0.617612;avsnp147=rs7517088;Kaviar_AF=0.641861;Kaviar_AC=99233;Kaviar_AN=154602;ExAC_ALL=0.6498;ExAC_AFR=0.7052;ExAC_AMR=0.6695;ExAC_EAS=0.5791;ExAC_FIN=0.7016;ExAC_NFE=0.6794;ExAC_OTH=0.6189;ExAC_SAS=0.5013;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.7501;dpsi_zscore=1.882;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.6496;gnomAD_exome_AFR=0.7027;gnomAD_exome_AMR=0.6808;gnomAD_exome_ASJ=0.6341;gnomAD_exome_EAS=0.5782;gnomAD_exome_FIN=0.6979;gnomAD_exome_NFE=0.6768;gnomAD_exome_OTH=0.6505;gnomAD_exome_SAS=0.5004;gnomAD_genome_ALL=0.6887;gnomAD_genome_AFR=0.7048;gnomAD_genome_AMR=0.6933;gnomAD_genome_ASJ=0.6093;gnomAD_genome_EAS=0.5508;gnomAD_genome_FIN=0.7148;gnomAD_genome_NFE=0.6906;gnomAD_genome_OTH=0.6714;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:160:0,85 1/1:207:0,207 1/1:197:0,197 1:203:0,93 1/1:174:0,174 1/1:254:0,254 1:176:0,84 1/1:201:0,201 1:234:0,90 1:246:0,98 1:233:0,117 1/1:188:0,188 1:219:0,107 1/1:223:0,223 1/1:313:0,313 1:232:0,110 1:241:0,121 . 1/1:193:0,193 1:190:0,89 1/1:216:0,216 1/1:186:0,186 1/1:291:0,291 1:284:0,153 1/1:231:0,231 1:165:0,73 1/1:187:0,187 1:267:0,120 . 1:258:0,131 . 1/1:163:0,163 1/1:239:0,239 1:212:0,111 1:287:0,138 1/1:201:0,201 1/1:213:0,213 1/1:176:0,176 1:160:0,92 1:268:0,134 1:243:0,111 1:234:0,110 1 228434467 rs7517108 T C 194.66 . #_unique_end_positions=,40;#_unique_start_positions=,34;AC=58;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.8480;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6902;AN=58;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.13;CAF_dbsnp_common_v150_hg19_refseq=,0.3375|0.6625;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001098623.2:c.3996T>C|_NM_001271223.2:c.4272T>C|_NM_052843.3:c.3996T>C;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.4272T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6151;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6421;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,38;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,OBSCN:84033;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_052843.3|NM_001098623.2|NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5674|rna5673|rna5672;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;Non-synonymous=,No;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,228434467;RS_dbsnp_common_v150_hg19_refseq=,7517108;Read_count=,76;Read_coverage=,167;Read_direction_test_probability=,0.847219253075342;Read_position_test_probability=,0.70884561907317;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_052843.3|NM_001098623.2|NM_001271223.2;Reverse_read_coverage=,129;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4622;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,18,19,20,21,22,23,24,25,26,27,29,31,32,33,34,35,36,37,38,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.271088|0.728912;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05010008030517053e000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.812;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_052843.3|Genbank:NM_001098623.2|Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_1|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_2|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_052843.3|NM_001098623.2|NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon13:c.T3996C:p.A1332A,OBSCN:NM_052843:exon13:c.T3996C:p.A1332A,OBSCN:NM_001271223:exon14:c.T4272C:p.A1424A;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.7295;esp6500siv2_ea=0.6824;esp6500siv2_all=0.7295;esp6500siv2_ea=0.6824;1000g2015aug_all=0.66254;avsnp147=rs7517108;Kaviar_AF=0.658174;Kaviar_AC=101755;Kaviar_AN=154602;ExAC_ALL=0.6689;ExAC_AFR=0.8216;ExAC_AMR=0.7404;ExAC_EAS=0.5954;ExAC_FIN=0.7009;ExAC_NFE=0.6802;ExAC_OTH=0.6258;ExAC_SAS=0.5101;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.9149;dpsi_zscore=1.469;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.6681;gnomAD_exome_AFR=0.8207;gnomAD_exome_AMR=0.7421;gnomAD_exome_ASJ=0.6363;gnomAD_exome_EAS=0.5940;gnomAD_exome_FIN=0.6974;gnomAD_exome_NFE=0.6773;gnomAD_exome_OTH=0.6632;gnomAD_exome_SAS=0.5094;gnomAD_genome_ALL=0.7236;gnomAD_genome_AFR=0.8169;gnomAD_genome_AMR=0.7404;gnomAD_genome_ASJ=0.6192;gnomAD_genome_EAS=0.5741;gnomAD_genome_FIN=0.7149;gnomAD_genome_NFE=0.6917;gnomAD_genome_OTH=0.6782;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:149:0,71 1/1:172:0,171 1/1:169:0,168 1:165:0,79 1/1:151:0,150 1/1:219:0,219 1:136:0,58 1/1:168:0,167 1:203:0,93 1:211:0,102 1:211:0,107 1/1:172:0,172 1:187:0,92 1/1:206:0,206 1/1:240:0,240 1:189:0,82 1:186:0,93 . 1/1:161:0,161 1:162:0,67 1/1:195:0,195 1/1:180:0,180 1/1:264:0,264 1:247:0,138 1/1:185:0,182 1:138:0,64 1/1:164:0,163 1:232:0,94 . 1:219:0,108 . 1/1:141:0,141 1/1:191:0,191 1:172:0,86 1:235:0,121 1/1:166:0,164 1/1:179:0,179 1/1:147:0,147 1:143:0,76 1:230:0,120 1:199:0,82 1:182:0,76 1 228434477 rs181560984 C T 200.00 . #_unique_end_positions=,45;#_unique_start_positions=,46;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0058;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001258152.2:p.Arg1428Trp|_NP_001092093.2:p.Arg1336Trp|_NP_443075.3:p.Arg1336Trp;Amino_acid_change_in_longest_transcript=,NP_001258152.2:p.Arg1428Trp;BaseQRankSum=,-0.27;CAF_dbsnp_common_v150_hg19_refseq=,0.9992|0.0007987;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001098623.2:c.4006C>T|_NM_001271223.2:c.4282C>T|_NM_052843.3:c.4006C>T;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.4282C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,53;GENEINFO_dbsnp_common_v150_hg19_refseq=,OBSCN:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_052843.3|NM_001098623.2|NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5674|rna5673|rna5672;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,228434477;RS_dbsnp_common_v150_hg19_refseq=,181560984;Read_count=,91;Read_coverage=,184;Read_direction_test_probability=,0.9843182134214223;Read_position_test_probability=,0.9905890933225046;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_052843.3|NM_001098623.2|NM_001271223.2;Reverse_read_coverage=,131;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=3;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.999863|0.000137382;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050100080a05040036000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.034;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_052843.3|Genbank:NM_001098623.2|Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_1|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_2|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_052843.3|NM_001098623.2|NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon13:c.C4006T:p.R1336W,OBSCN:NM_052843:exon13:c.C4006T:p.R1336W,OBSCN:NM_001271223:exon14:c.C4282T:p.R1428W;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.000798722;avsnp147=rs181560984;Kaviar_AF=0.0001682;Kaviar_AC=26;Kaviar_AN=154602;ExAC_ALL=0.0002;ExAC_AFR=0;ExAC_AMR=0.0008;ExAC_EAS=0.0001;ExAC_FIN=0;ExAC_NFE=0.0001;ExAC_OTH=0;ExAC_SAS=0.0001;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.005;SIFT_pred=D;Polyphen2_HDIV_score=0.059;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.036;Polyphen2_HVAR_pred=B;LRT_score=0.053;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=N;MutationAssessor_score=2.49;MutationAssessor_pred=M;FATHMM_score=3.48;FATHMM_pred=T;PROVEAN_score=-3.4;PROVEAN_pred=D;VEST3_score=0.171;CADD_raw=2.479;CADD_phred=19.34;DANN_score=0.222;fathmm-MKL_coding_score=0.211;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.065;MetaSVM_pred=T;MetaLR_score=0.015;MetaLR_pred=T;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=-0.219;phyloP7way_vertebrate=0.067;phyloP20way_mammalian=-2.021;phastCons7way_vertebrate=0.960;phastCons20way_mammalian=0.002;SiPhy_29way_logOdds=3.654;GDI_full_10282015=.;dpsi_max_tissue=-1.6595;dpsi_zscore=-1.781;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0002;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0006;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0;gnomAD_exome_NFE=9.016e-05;gnomAD_exome_OTH=0.0005;gnomAD_exome_SAS=0.0002;gnomAD_genome_ALL=0.0001;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0001;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:DP:CLCAD2 . . . 1:162:0,82 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 228437748 rs7543501 C T 200.00 . #_unique_end_positions=,61;#_unique_start_positions=,63;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1384;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0115;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.53;CAF_dbsnp_common_v150_hg19_refseq=,0.9617|0.03834;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001098623.2:c.4116C>T|_NM_001271223.2:c.4392C>T|_NM_052843.3:c.4116C>T;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.4392C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,190;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,OBSCN:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_052843.3|NM_001098623.2|NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5674|rna5673|rna5672;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;Non-synonymous=,No;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,228437748;RS_dbsnp_common_v150_hg19_refseq=,7543501;Read_count=,148;Read_coverage=,302;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9685804322957404;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_052843.3|NM_001098623.2|NM_001271223.2;Reverse_read_coverage=,112;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=37;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.953256|0.0467441;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050100000305150036000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.21;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_052843.3|Genbank:NM_001098623.2|Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_1|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_2|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_052843.3|NM_001098623.2|NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon14:c.C4116T:p.C1372C,OBSCN:NM_052843:exon14:c.C4116T:p.C1372C,OBSCN:NM_001271223:exon15:c.C4392T:p.C1464C;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0303;esp6500siv2_ea=0.0005;esp6500siv2_all=0.0303;esp6500siv2_ea=0.0005;1000g2015aug_all=0.0383387;avsnp147=rs7543501;Kaviar_AF=0.00978;Kaviar_AC=1512;Kaviar_AN=154602;ExAC_ALL=0.0101;ExAC_AFR=0.1136;ExAC_AMR=0.0067;ExAC_EAS=0.0002;ExAC_FIN=0;ExAC_NFE=0.0004;ExAC_OTH=0.0022;ExAC_SAS=0.0001;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.2922;dpsi_zscore=-0.841;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0082;gnomAD_exome_AFR=0.1107;gnomAD_exome_AMR=0.0072;gnomAD_exome_ASJ=0.0007;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0003;gnomAD_exome_OTH=0.0051;gnomAD_exome_SAS=6.498e-05;gnomAD_genome_ALL=0.0293;gnomAD_genome_AFR=0.1026;gnomAD_genome_AMR=0.0036;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0004;gnomAD_genome_OTH=0.0041;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:272:0,135 . . . . 1 228444410 . G A 200.00 . #_unique_end_positions=,81;#_unique_start_positions=,77;AC=1;AN=1;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.83;Coding_region_change=,NM_001098623.2:c.4368G>A|_NM_001271223.2:c.4644G>A|_NM_052843.3:c.4368G>A;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.4644G>A;Forward_read_coverage=,228;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_052843.3|NM_001098623.2|NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5674|rna5673|rna5672;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;Non-synonymous=,No;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;Read_count=,176;Read_coverage=,339;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9741573627195751;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_052843.3|NM_001098623.2|NM_001271223.2;Reverse_read_coverage=,111;SF=14;conservation_score=,0.207;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_052843.3|Genbank:NM_001098623.2|Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_1|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_2|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_052843.3|NM_001098623.2|NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon15:c.G4368A:p.A1456A,OBSCN:NM_052843:exon15:c.G4368A:p.A1456A,OBSCN:NM_001271223:exon16:c.G4644A:p.A1548A;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs781491859;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;ExAC_ALL=2.495e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.507e-05;ExAC_OTH=0;ExAC_SAS=0.0001;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.6458;dpsi_zscore=-1.225;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.476e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=2.692e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0.0003;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . . . . . . . 1:321:0,166 . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 228444565 rs7532342 T A 184.08 . #_unique_end_positions=,91;#_unique_start_positions=,94;AC=84;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,1.0000;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,1.0000;AN=84;Amino_acid_change=,NP_001092093.2:p.Val1508Asp|_NP_001258152.2:p.Val1600Asp|_NP_443075.3:p.Val1508Asp;Amino_acid_change_in_longest_transcript=,NP_001258152.2:p.Val1600Asp;Coding_region_change=,NM_001098623.2:c.4523T>A|_NM_001271223.2:c.4799T>A|_NM_052843.3:c.4523T>A;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.4799T>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,1.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,1.0000;Exact_match=,1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,102;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,A/A;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_052843.3|NM_001098623.2|NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5674|rna5673|rna5672;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,154.7746851547134;Read_count=,241;Read_coverage=,243;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_052843.3|NM_001098623.2|NM_001271223.2;Reverse_read_coverage=,141;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,1.0000;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41;conservation_score=,0.031;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_052843.3|Genbank:NM_001098623.2|Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_1|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_2|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_052843.3|NM_001098623.2|NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon15:c.T4523A:p.V1508D,OBSCN:NM_052843:exon15:c.T4523A:p.V1508D,OBSCN:NM_001271223:exon16:c.T4799A:p.V1600D;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=1;avsnp147=rs7532342;Kaviar_AF=0.0050646;Kaviar_AC=783;Kaviar_AN=154602;ExAC_ALL=1;ExAC_AFR=1;ExAC_AMR=1;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=1;ExAC_OTH=1;ExAC_SAS=1;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_pred=N;MutationTaster_score=0.001;MutationTaster_pred=P;MutationAssessor_score=-4.01;MutationAssessor_pred=N;FATHMM_score=1.1;FATHMM_pred=T;PROVEAN_score=5.76;PROVEAN_pred=N;VEST3_score=0.295;CADD_raw=0.030;CADD_phred=2.884;DANN_score=0.239;fathmm-MKL_coding_score=0.026;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.939;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.706;integrated_confidence_value=0;GERP++_RS=4.6;phyloP7way_vertebrate=0.127;phyloP20way_mammalian=0.200;phastCons7way_vertebrate=0.551;phastCons20way_mammalian=0.008;SiPhy_29way_logOdds=10.586;GDI_full_10282015=.;dpsi_max_tissue=0.5351;dpsi_zscore=1.167;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=1;gnomAD_exome_AFR=1;gnomAD_exome_AMR=1;gnomAD_exome_ASJ=1;gnomAD_exome_EAS=1;gnomAD_exome_FIN=1;gnomAD_exome_NFE=1;gnomAD_exome_OTH=1;gnomAD_exome_SAS=1;gnomAD_genome_ALL=1;gnomAD_genome_AFR=1;gnomAD_genome_AMR=1;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=1;gnomAD_genome_FIN=1;gnomAD_genome_NFE=1;gnomAD_genome_OTH=1;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1/1:194:0,193 1/1:330:0,330 1/1:253:0,253 1/1:320:0,320 1/1:231:0,231 1/1:419:0,419 1/1:240:0,240 1/1:235:0,235 1/1:290:0,290 1/1:280:0,280 1/1:364:0,363 1/1:284:0,284 1/1:338:0,338 1/1:322:0,322 1/1:411:0,411 1/1:309:0,309 1/1:298:0,298 1/1:343:0,343 1/1:279:0,279 1/1:262:0,262 1/1:261:0,261 1/1:276:0,276 1/1:438:0,438 1/1:414:0,414 1/1:354:0,354 1/1:227:0,227 1/1:261:0,261 1/1:353:0,353 1/1:344:0,344 1/1:372:0,372 1/1:347:0,347 1/1:181:0,181 1/1:290:0,290 1/1:228:0,228 1/1:321:0,320 1/1:318:0,318 1/1:247:0,247 1/1:229:0,229 1/1:248:0,248 1/1:331:0,331 1/1:271:0,271 1/1:260:0,260 1 228447271 . C T 200.00 . #_unique_end_positions=,43;#_unique_start_positions=,44;AC=1;AN=1;Amino_acid_change=,NP_001258152.2:p.Ala1644Val;Amino_acid_change_in_longest_transcript=,NP_001258152.2:p.Ala1644Val;BaseQRankSum=,0.12;Coding_region_change=,NM_001098623.2:c.4585+2644C>T|_NM_001271223.2:c.4931C>T|_NM_052843.3:c.4585+2644C>T;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.4931C>T;Forward_read_coverage=,97;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5672;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;Read_count=,67;Read_coverage=,154;Read_direction_test_probability=,0.98257749601544;Read_position_test_probability=,0.9335930453318285;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001271223.2;Reverse_read_coverage=,57;SF=37;conservation_score=,0.971;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001271223:exon17:c.C4931T:p.A1644V;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs374784382;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.026;SIFT_pred=D;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=3.62;FATHMM_pred=T;PROVEAN_score=-2.39;PROVEAN_pred=N;VEST3_score=0.382;CADD_raw=2.725;CADD_phred=21.0;DANN_score=0.999;fathmm-MKL_coding_score=0.986;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.023;MetaSVM_pred=T;MetaLR_score=0.013;MetaLR_pred=T;integrated_fitCons_score=0.676;integrated_confidence_value=0;GERP++_RS=5.25;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.852;phastCons7way_vertebrate=0.951;phastCons20way_mammalian=0.249;SiPhy_29way_logOdds=18.823;GDI_full_10282015=.;dpsi_max_tissue=0.6117;dpsi_zscore=1.238;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.063e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=8.958e-06;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:146:0,62 . . . . 1 228451826 rs453140 C T 198.24 . #_unique_end_positions=,61;#_unique_start_positions=,59;AC=25;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2761;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2983;AN=25;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001092093.2:p.Ala1532Val|_NP_001258152.2:p.Ala1716Val|_NP_443075.3:p.Ala1532Val;Amino_acid_change_in_longest_transcript=,NP_001258152.2:p.Ala1716Val;BaseQRankSum=,-0.52;CAF_dbsnp_common_v150_hg19_refseq=,0.6937|0.3063;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001098623.2:c.4595C>T|_NM_001271223.2:c.5147C>T|_NM_052843.3:c.4595C>T;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.5147C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4226;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2823;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,210;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,OBSCN:84033;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_052843.3|NM_001098623.2|NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5674|rna5673|rna5672;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,228451826;RS_dbsnp_common_v150_hg19_refseq=,453140;Read_count=,147;Read_coverage=,298;Read_direction_test_probability=,0.9996623668786625;Read_position_test_probability=,0.9738677513967229;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_052843.3|NM_001098623.2|NM_001271223.2;Reverse_read_coverage=,88;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2577;SF=2,3,5,7,8,10,12,13,18,19,20,22,24,25,26,27,31,32,34,35,36,37,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.723348|0.276652;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050100000a05170136000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.0;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_052843.3|Genbank:NM_001098623.2|Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_1|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_2|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_052843.3|NM_001098623.2|NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon16:c.C4595T:p.A1532V,OBSCN:NM_052843:exon16:c.C4595T:p.A1532V,OBSCN:NM_001271223:exon18:c.C5147T:p.A1716V;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.2679;esp6500siv2_ea=0.2810;esp6500siv2_all=0.2679;esp6500siv2_ea=0.2810;1000g2015aug_all=0.30631;avsnp147=rs453140;Kaviar_AF=0.279912;Kaviar_AC=43275;Kaviar_AN=154602;ExAC_ALL=0.2944;ExAC_AFR=0.2505;ExAC_AMR=0.2738;ExAC_EAS=0.4042;ExAC_FIN=0.3589;ExAC_NFE=0.2922;ExAC_OTH=0.2897;ExAC_SAS=0.2611;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.448;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.016;Polyphen2_HVAR_pred=B;LRT_score=0.628;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.96;MutationAssessor_pred=N;FATHMM_score=3.72;FATHMM_pred=T;PROVEAN_score=0.88;PROVEAN_pred=N;VEST3_score=0.02;CADD_raw=0.352;CADD_phred=6.186;DANN_score=0.718;fathmm-MKL_coding_score=0.014;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.942;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.696;integrated_confidence_value=0;GERP++_RS=-1.6;phyloP7way_vertebrate=-0.379;phyloP20way_mammalian=-0.767;phastCons7way_vertebrate=0.089;phastCons20way_mammalian=0.014;SiPhy_29way_logOdds=6.177;GDI_full_10282015=.;dpsi_max_tissue=-0.2980;dpsi_zscore=-0.850;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2933;gnomAD_exome_AFR=0.2485;gnomAD_exome_AMR=0.2811;gnomAD_exome_ASJ=0.2382;gnomAD_exome_EAS=0.4012;gnomAD_exome_FIN=0.3522;gnomAD_exome_NFE=0.2892;gnomAD_exome_OTH=0.2858;gnomAD_exome_SAS=0.2600;gnomAD_genome_ALL=0.2987;gnomAD_genome_AFR=0.2592;gnomAD_genome_AMR=0.2780;gnomAD_genome_ASJ=0.2517;gnomAD_genome_EAS=0.3870;gnomAD_genome_FIN=0.3499;gnomAD_genome_NFE=0.3003;gnomAD_genome_OTH=0.3279;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . 1:273:0,137 1:293:0,144 . 1:328:0,168 . 1/1:237:0,237 1:299:0,131 . 1:311:0,156 . 1:293:0,134 1:304:0,137 . . . . 1:235:0,104 1:289:0,135 1:238:0,109 . 1:422:0,187 . 1:372:0,174 1:285:0,128 1:238:0,120 1:334:0,165 . . . 1:177:0,87 1/1:280:0,280 . 1:322:0,154 1:297:0,139 1:243:0,98 1:229:0,112 . . . 1:237:0,113 1 228452016 rs185523702 G C 200.00 . #_unique_end_positions=,71;#_unique_start_positions=,68;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0008;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0086;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001258152.2:p.Glu1779Asp|_NP_443075.3:p.Glu1595Asp|_NP_001092093.2:p.Glu1595Asp;Amino_acid_change_in_longest_transcript=,NP_001258152.2:p.Glu1779Asp;BaseQRankSum=,0.11;CAF_dbsnp_common_v150_hg19_refseq=,0.996|0.003994;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001098623.2:c.4785G>C|_NM_001271223.2:c.5337G>C|_NM_052843.3:c.4785G>C;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.5337G>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0119;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,124;GENEINFO_dbsnp_common_v150_hg19_refseq=,OBSCN:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,C/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_052843.3|NM_001098623.2|NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5674|rna5673|rna5672;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,228452016;RS_dbsnp_common_v150_hg19_refseq=,185523702;Read_count=,185;Read_coverage=,359;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9620983039798099;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_052843.3|NM_001098623.2|NM_001271223.2;Reverse_read_coverage=,235;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;SF=20;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.989216|0.0107844;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050000000a05040036000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.996;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_052843.3|Genbank:NM_001098623.2|Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_1|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_2|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_052843.3|NM_001098623.2|NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon16:c.G4785C:p.E1595D,OBSCN:NM_052843:exon16:c.G4785C:p.E1595D,OBSCN:NM_001271223:exon18:c.G5337C:p.E1779D;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0139;esp6500siv2_ea=0.0195;esp6500siv2_all=0.0139;esp6500siv2_ea=0.0195;1000g2015aug_all=0.00399361;avsnp147=rs185523702;Kaviar_AF=0.0134345;Kaviar_AC=2077;Kaviar_AN=154602;ExAC_ALL=0.0137;ExAC_AFR=0.0025;ExAC_AMR=0.0078;ExAC_EAS=0.0001;ExAC_FIN=0.0271;ExAC_NFE=0.0190;ExAC_OTH=0.0078;ExAC_SAS=0.0049;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.291;SIFT_pred=T;Polyphen2_HDIV_score=0.279;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.048;Polyphen2_HVAR_pred=B;LRT_score=0.015;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=0.36;MutationAssessor_pred=N;FATHMM_score=3.65;FATHMM_pred=T;PROVEAN_score=-1.21;PROVEAN_pred=N;VEST3_score=0.049;CADD_raw=-1.319;CADD_phred=0.004;DANN_score=0.736;fathmm-MKL_coding_score=0.390;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.858;MetaSVM_pred=T;MetaLR_score=0.004;MetaLR_pred=T;integrated_fitCons_score=0.696;integrated_confidence_value=0;GERP++_RS=3.77;phyloP7way_vertebrate=0.008;phyloP20way_mammalian=0.131;phastCons7way_vertebrate=0.883;phastCons20way_mammalian=0.630;SiPhy_29way_logOdds=13.174;GDI_full_10282015=.;dpsi_max_tissue=0.5311;dpsi_zscore=1.163;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0134;gnomAD_exome_AFR=0.0026;gnomAD_exome_AMR=0.0074;gnomAD_exome_ASJ=0.0082;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0.0274;gnomAD_exome_NFE=0.0186;gnomAD_exome_OTH=0.0132;gnomAD_exome_SAS=0.0055;gnomAD_genome_ALL=0.0140;gnomAD_genome_AFR=0.0041;gnomAD_genome_AMR=0.0107;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0246;gnomAD_genome_NFE=0.0189;gnomAD_genome_OTH=0.0173;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . 1:320:0,166 . . . . . . . . . . . . . . . . . . . . . 1 228456382 rs199646052 A C 200.00 . #_unique_end_positions=,62;#_unique_start_positions=,63;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_443075.3:p.Lys1671Asn|_NP_001092093.2:p.Lys1671Asn|_NP_001258152.2:p.Lys1855Asn;Amino_acid_change_in_longest_transcript=,NP_001258152.2:p.Lys1855Asn;BaseQRankSum=,0.21;CAF_dbsnp_common_v150_hg19_refseq=,0.9994|0.000599;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001098623.2:c.5013A>C|_NM_001271223.2:c.5565A>C|_NM_052843.3:c.5013A>C;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.5565A>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0030;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,136;GENEINFO_dbsnp_common_v150_hg19_refseq=,OBSCN:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,A/C;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_052843.3|NM_001098623.2|NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5674|rna5673|rna5672;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,228456382;RS_dbsnp_common_v150_hg19_refseq=,199646052;Read_count=,137;Read_coverage=,326;Read_direction_test_probability=,0.8832698151167198;Read_position_test_probability=,0.7057133059623856;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_052843.3|NM_001098623.2|NM_001271223.2;Reverse_read_coverage=,190;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=19;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.99028|0.00971974;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050000080a05040026000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.011;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_052843.3|Genbank:NM_001098623.2|Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_1|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_2|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_052843.3|NM_001098623.2|NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon17:c.A5013C:p.K1671N,OBSCN:NM_052843:exon17:c.A5013C:p.K1671N,OBSCN:NM_001271223:exon19:c.A5565C:p.K1855N;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0014;esp6500siv2_ea=0.0020;esp6500siv2_all=0.0014;esp6500siv2_ea=0.0020;1000g2015aug_all=0.000599042;avsnp147=rs199646052;Kaviar_AF=0.00174;Kaviar_AC=269;Kaviar_AN=154602;ExAC_ALL=0.0018;ExAC_AFR=0.0003;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0.0020;ExAC_NFE=0.0030;ExAC_OTH=0;ExAC_SAS=0.0001;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.264;SIFT_pred=T;Polyphen2_HDIV_score=0.875;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.809;Polyphen2_HVAR_pred=P;LRT_score=0.993;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=1.245;MutationAssessor_pred=L;FATHMM_score=-0.31;FATHMM_pred=T;PROVEAN_score=-2.25;PROVEAN_pred=N;VEST3_score=0.052;CADD_raw=2.981;CADD_phred=22.2;DANN_score=0.993;fathmm-MKL_coding_score=0.130;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.607;MetaSVM_pred=T;MetaLR_score=0.318;MetaLR_pred=T;integrated_fitCons_score=0.653;integrated_confidence_value=0;GERP++_RS=-2.94;phyloP7way_vertebrate=-0.056;phyloP20way_mammalian=-0.556;phastCons7way_vertebrate=0.951;phastCons20way_mammalian=0.001;SiPhy_29way_logOdds=15.313;GDI_full_10282015=.;dpsi_max_tissue=1.1517;dpsi_zscore=1.609;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0016;gnomAD_exome_AFR=0.0003;gnomAD_exome_AMR=8.934e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0022;gnomAD_exome_NFE=0.0030;gnomAD_exome_OTH=0.0007;gnomAD_exome_SAS=9.746e-05;gnomAD_genome_ALL=0.0012;gnomAD_genome_AFR=0.0003;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0029;gnomAD_genome_NFE=0.0014;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . 1:296:0,121 . . . . . . . . . . . . . . . . . . . . . . 1 228459745 . C G 200.00 . #_unique_end_positions=,46;#_unique_start_positions=,44;AC=1;AN=1;Amino_acid_change=,NP_001258152.2:p.Gln1937Glu;Amino_acid_change_in_longest_transcript=,NP_001258152.2:p.Gln1937Glu;BaseQRankSum=,0.11;Coding_region_change=,NM_001098623.2:c.5138-1726C>G|_NM_001271223.2:c.5809C>G|_NM_052843.3:c.5138-1726C>G;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.5809C>G;Forward_read_coverage=,149;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,C/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5672;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;Read_count=,86;Read_coverage=,202;Read_direction_test_probability=,0.9936731072126014;Read_position_test_probability=,0.7699328956023754;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001271223.2;Reverse_read_coverage=,53;SF=4;conservation_score=,0.981;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001271223:exon20:c.C5809G:p.Q1937E;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=-0.2;FATHMM_pred=T;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=0.112;CADD_raw=1.739;CADD_phred=14.63;DANN_score=0.510;fathmm-MKL_coding_score=0.307;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.010;MetaSVM_pred=T;MetaLR_score=0.124;MetaLR_pred=T;integrated_fitCons_score=0.646;integrated_confidence_value=0;GERP++_RS=2.99;phyloP7way_vertebrate=-0.048;phyloP20way_mammalian=0.777;phastCons7way_vertebrate=0.991;phastCons20way_mammalian=0.990;SiPhy_29way_logOdds=12.912;GDI_full_10282015=.;dpsi_max_tissue=1.8175;dpsi_zscore=1.908;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . 1:179:0,75 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 228461129 rs1188724 A G 192.31 . #_unique_end_positions=,43;#_unique_start_positions=,41;AC=55;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.8442;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6974;AN=55;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001258152.2:p.His2048Arg;Amino_acid_change_in_longest_transcript=,NP_001258152.2:p.His2048Arg;BaseQRankSum=,0.38;CAF_dbsnp_common_v150_hg19_refseq=,0.3065|0.6935;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001098623.2:c.5138-342A>G|_NM_001271223.2:c.6143A>G|_NM_052843.3:c.5138-342A>G;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.6143A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7500;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6630;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,58;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,OBSCN:84033;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5672;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,228461129;RS_dbsnp_common_v150_hg19_refseq=,1188724;Read_count=,72;Read_coverage=,154;Read_direction_test_probability=,0.9872842140051126;Read_position_test_probability=,0.992321151406669;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001271223.2;Reverse_read_coverage=,96;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4601;SF=0,1,2,3,4,5,6,7,8,10,11,12,13,14,15,16,18,19,20,21,22,23,24,25,26,27,29,31,32,33,34,35,36,37,38,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.266898|0.733102;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050100080a0517013e000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.016;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001271223:exon21:c.A6143G:p.H2048R;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.7357;esp6500siv2_ea=0.6953;esp6500siv2_all=0.7357;esp6500siv2_ea=0.6953;1000g2015aug_all=0.69349;avsnp147=rs1188724;Kaviar_AF=0.680023;Kaviar_AC=105133;Kaviar_AN=154602;ExAC_ALL=0.6908;ExAC_AFR=0.8132;ExAC_AMR=0.7420;ExAC_EAS=0.7286;ExAC_FIN=0.7517;ExAC_NFE=0.6973;ExAC_OTH=0.6432;ExAC_SAS=0.5151;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=-0.12;FATHMM_pred=T;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=0.018;CADD_raw=-0.541;CADD_phred=0.174;DANN_score=0.112;fathmm-MKL_coding_score=0.027;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.004;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.646;integrated_confidence_value=0;GERP++_RS=-1.1;phyloP7way_vertebrate=-0.385;phyloP20way_mammalian=-1.962;phastCons7way_vertebrate=0.584;phastCons20way_mammalian=0.000;SiPhy_29way_logOdds=11.816;GDI_full_10282015=.;dpsi_max_tissue=0.6982;dpsi_zscore=1.310;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.6902;gnomAD_exome_AFR=0.8111;gnomAD_exome_AMR=0.7432;gnomAD_exome_ASJ=0.6409;gnomAD_exome_EAS=0.7290;gnomAD_exome_FIN=0.7484;gnomAD_exome_NFE=0.6933;gnomAD_exome_OTH=0.6762;gnomAD_exome_SAS=0.5153;gnomAD_genome_ALL=0.7432;gnomAD_genome_AFR=0.8083;gnomAD_genome_AMR=0.7464;gnomAD_genome_ASJ=0.6358;gnomAD_genome_EAS=0.7027;gnomAD_genome_FIN=0.7607;gnomAD_genome_NFE=0.7098;gnomAD_genome_OTH=0.7092;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:147:0,69 1/1:223:0,223 1/1:215:0,215 1:190:0,100 1/1:170:0,170 1/1:238:0,238 1:162:0,86 1/1:213:0,213 1:221:0,102 . 1:298:0,139 1/1:201:0,201 1:207:0,85 1/1:249:0,249 1:294:0,150 1:237:0,135 1:265:0,140 . 1/1:186:0,186 1:202:0,92 1/1:197:0,197 1/1:202:0,202 1/1:368:0,368 1:295:0,150 1/1:260:0,260 1:202:0,106 1/1:228:0,228 1:223:0,102 . 1:263:0,141 . 1/1:125:0,125 1/1:218:0,218 1:188:0,91 1:225:0,105 1:193:0,99 1/1:161:0,161 1/1:149:0,149 1:175:0,87 1:271:0,161 1:235:0,106 1:179:0,83 1 228461239 rs189809636 C T 200.00 . #_unique_end_positions=,51;#_unique_start_positions=,43;AC=2;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0008;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0130;AN=2;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001258152.2:p.His2085Tyr;Amino_acid_change_in_longest_transcript=,NP_001258152.2:p.His2085Tyr;BaseQRankSum=,-0.45;CAF_dbsnp_common_v150_hg19_refseq=,0.996|0.003994;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001098623.2:c.5138-232C>T|_NM_001271223.2:c.6253C>T|_NM_052843.3:c.5138-232C>T;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.6253C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0089;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,36;GENEINFO_dbsnp_common_v150_hg19_refseq=,OBSCN:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5672;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,228461239;RS_dbsnp_common_v150_hg19_refseq=,189809636;Read_count=,83;Read_coverage=,223;Read_direction_test_probability=,0.8631169328896527;Read_position_test_probability=,0.9821042521701074;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001271223.2;Reverse_read_coverage=,187;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;SF=7,27;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.994917|0.00508312;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050000080a05040036000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.24;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001271223:exon21:c.C6253T:p.H2085Y;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0078;esp6500siv2_ea=0.0109;esp6500siv2_all=0.0078;esp6500siv2_ea=0.0109;1000g2015aug_all=0.00399361;avsnp147=rs189809636;Kaviar_AF=0.005912;Kaviar_AC=914;Kaviar_AN=154602;ExAC_ALL=0.0056;ExAC_AFR=0.0017;ExAC_AMR=0.0037;ExAC_EAS=0;ExAC_FIN=0.0020;ExAC_NFE=0.0084;ExAC_OTH=0.0035;ExAC_SAS=0.0025;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=1.2;MutationAssessor_pred=L;FATHMM_score=3.6;FATHMM_pred=T;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=0.064;CADD_raw=0.058;CADD_phred=3.167;DANN_score=0.941;fathmm-MKL_coding_score=0.237;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.985;MetaSVM_pred=T;MetaLR_score=0.013;MetaLR_pred=T;integrated_fitCons_score=0.646;integrated_confidence_value=0;GERP++_RS=1.53;phyloP7way_vertebrate=-0.029;phyloP20way_mammalian=-0.628;phastCons7way_vertebrate=0.996;phastCons20way_mammalian=0.066;SiPhy_29way_logOdds=8.106;GDI_full_10282015=.;dpsi_max_tissue=0.4695;dpsi_zscore=1.101;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0057;gnomAD_exome_AFR=0.0016;gnomAD_exome_AMR=0.0050;gnomAD_exome_ASJ=0.0003;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0018;gnomAD_exome_NFE=0.0095;gnomAD_exome_OTH=0.0053;gnomAD_exome_SAS=0.0023;gnomAD_genome_ALL=0.0055;gnomAD_genome_AFR=0.0026;gnomAD_genome_AMR=0.0119;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0014;gnomAD_genome_NFE=0.0086;gnomAD_genome_OTH=0.0041;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . 1:214:0,81 . . . . . . . . . . . . . . . . . . . 1:254:0,112 . . . . . . . . . . . . . . 1 228461900 rs201775103 G A 200.00 . #_unique_end_positions=,60;#_unique_start_positions=,51;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001258152.2:p.Arg2188Gln|_NP_443075.3:p.Arg1813Gln|_NP_001092093.2:p.Arg1813Gln;Amino_acid_change_in_longest_transcript=,NP_001258152.2:p.Arg2188Gln;BaseQRankSum=,0.11;CAF_dbsnp_common_v150_hg19_refseq=,0.9996|0.0003994;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001098623.2:c.5438G>A|_NM_001271223.2:c.6563G>A|_NM_052843.3:c.5438G>A;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.6563G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,162;GENEINFO_dbsnp_common_v150_hg19_refseq=,OBSCN:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_052843.3|NM_001098623.2|NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5674|rna5673|rna5672;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,228461900;RS_dbsnp_common_v150_hg19_refseq=,201775103;Read_count=,125;Read_coverage=,259;Read_direction_test_probability=,0.6884730172773594;Read_position_test_probability=,0.6866816533382187;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_052843.3|NM_001098623.2|NM_001271223.2;Reverse_read_coverage=,97;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0020;SF=40;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.999897|0.000103036;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050100000a05040426000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.0;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_052843.3|Genbank:NM_001098623.2|Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_1|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_2|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_052843.3|NM_001098623.2|NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon19:c.G5438A:p.R1813Q,OBSCN:NM_052843:exon19:c.G5438A:p.R1813Q,OBSCN:NM_001271223:exon23:c.G6563A:p.R2188Q;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=7.8e-05;esp6500siv2_ea=.;esp6500siv2_all=7.8e-05;esp6500siv2_ea=.;1000g2015aug_all=0.000399361;avsnp147=rs201775103;Kaviar_AF=0.0004722;Kaviar_AC=73;Kaviar_AN=154602;ExAC_ALL=0.0005;ExAC_AFR=0;ExAC_AMR=0.0005;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0003;ExAC_OTH=0;ExAC_SAS=0.0022;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.233;SIFT_pred=T;Polyphen2_HDIV_score=0.985;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.405;Polyphen2_HVAR_pred=B;LRT_score=0.953;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0.28;MutationAssessor_pred=N;FATHMM_score=0.12;FATHMM_pred=T;PROVEAN_score=-0.89;PROVEAN_pred=N;VEST3_score=0.097;CADD_raw=1.422;CADD_phred=12.90;DANN_score=0.971;fathmm-MKL_coding_score=0.020;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.970;MetaSVM_pred=T;MetaLR_score=0.125;MetaLR_pred=T;integrated_fitCons_score=0.653;integrated_confidence_value=0;GERP++_RS=-1.12;phyloP7way_vertebrate=-0.327;phyloP20way_mammalian=-0.097;phastCons7way_vertebrate=0.011;phastCons20way_mammalian=0.009;SiPhy_29way_logOdds=10.591;GDI_full_10282015=.;dpsi_max_tissue=-0.1993;dpsi_zscore=-0.686;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0005;gnomAD_exome_AFR=6.66e-05;gnomAD_exome_AMR=0.0003;gnomAD_exome_ASJ=0.0008;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0003;gnomAD_exome_OTH=0.0007;gnomAD_exome_SAS=0.0024;gnomAD_genome_ALL=6.462e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.671e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:238:0,112 . 1 228462020 . G A 200.00 . #_unique_end_positions=,65;#_unique_start_positions=,56;AC=1;AN=1;Amino_acid_change=,NP_443075.3:p.Arg1853His|_NP_001092093.2:p.Arg1853His|_NP_001258152.2:p.Arg2228His;Amino_acid_change_in_longest_transcript=,NP_001258152.2:p.Arg2228His;BaseQRankSum=,-0.41;Coding_region_change=,NM_001098623.2:c.5558G>A|_NM_001271223.2:c.6683G>A|_NM_052843.3:c.5558G>A;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.6683G>A;Forward_read_coverage=,104;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_052843.3|NM_001098623.2|NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5674|rna5673|rna5672;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;Read_count=,156;Read_coverage=,322;Read_direction_test_probability=,0.4446720220378936;Read_position_test_probability=,0.4525284482070747;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_052843.3|NM_001098623.2|NM_001271223.2;Reverse_read_coverage=,218;SF=16;conservation_score=,1.0;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_052843.3|Genbank:NM_001098623.2|Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_1|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_2|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_052843.3|NM_001098623.2|NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon19:c.G5558A:p.R1853H,OBSCN:NM_052843:exon19:c.G5558A:p.R1853H,OBSCN:NM_001271223:exon23:c.G6683A:p.R2228H;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=7.8e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=7.8e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=.;avsnp147=rs371257454;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;ExAC_ALL=3.352e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=6.098e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.089;SIFT_pred=T;Polyphen2_HDIV_score=0.581;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.123;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.72;MutationAssessor_pred=M;FATHMM_score=-0.06;FATHMM_pred=T;PROVEAN_score=-2.7;PROVEAN_pred=D;VEST3_score=0.139;CADD_raw=4.306;CADD_phred=24.0;DANN_score=0.996;fathmm-MKL_coding_score=0.966;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.650;MetaSVM_pred=T;MetaLR_score=0.246;MetaLR_pred=T;integrated_fitCons_score=0.696;integrated_confidence_value=0;GERP++_RS=4.25;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.138;phastCons7way_vertebrate=0.922;phastCons20way_mammalian=0.994;SiPhy_29way_logOdds=6.44;GDI_full_10282015=.;dpsi_max_tissue=-0.1083;dpsi_zscore=-0.474;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=3.665e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0.0001;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=6.295e-05;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=0;gnomAD_genome_ALL=3.233e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.676e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . 1:290:0,143 . . . . . . . . . . . . . . . . . . . . . . . . . 1 228464232 . C T 200.00 . #_unique_end_positions=,70;#_unique_start_positions=,75;AC=1;AN=1;Amino_acid_change=,NP_001092093.2:p.Ser2101Leu|_NP_001258152.2:p.Ser2476Leu|_NP_443075.3:p.Ser2101Leu;Amino_acid_change_in_longest_transcript=,NP_001258152.2:p.Ser2476Leu;BaseQRankSum=,-0.11;Coding_region_change=,NM_001098623.2:c.6302C>T|_NM_001271223.2:c.7427C>T|_NM_052843.3:c.6302C>T;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.7427C>T;Forward_read_coverage=,156;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_052843.3|NM_001098623.2|NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5674|rna5673|rna5672;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;Read_count=,149;Read_coverage=,292;Read_direction_test_probability=,0.99985206571609;Read_position_test_probability=,0.897701566559539;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_052843.3|NM_001098623.2|NM_001271223.2;Reverse_read_coverage=,136;SF=24;conservation_score=,0.94;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_052843.3|Genbank:NM_001098623.2|Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_1|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_2|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_052843.3|NM_001098623.2|NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon22:c.C6302T:p.S2101L,OBSCN:NM_052843:exon22:c.C6302T:p.S2101L,OBSCN:NM_001271223:exon26:c.C7427T:p.S2476L;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs555298668;Kaviar_AF=8.41e-05;Kaviar_AC=13;Kaviar_AN=154602;ExAC_ALL=0.0001;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0002;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.024;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_pred=D;LRT_score=0.001;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.73;MutationAssessor_pred=M;FATHMM_score=3.38;FATHMM_pred=T;PROVEAN_score=-3.24;PROVEAN_pred=D;VEST3_score=0.489;CADD_raw=6.226;CADD_phred=28.8;DANN_score=0.997;fathmm-MKL_coding_score=0.911;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.065;MetaSVM_pred=T;MetaLR_score=0.078;MetaLR_pred=T;integrated_fitCons_score=0.455;integrated_confidence_value=0;GERP++_RS=5.14;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.839;phastCons7way_vertebrate=0.921;phastCons20way_mammalian=0.328;SiPhy_29way_logOdds=18.601;GDI_full_10282015=.;dpsi_max_tissue=0.0295;dpsi_zscore=0.193;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=5.773e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0001;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=6.479e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0001;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=5 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . 1:245:0,127 . . . . . . . . . . . . . . . . . 1 228464248 rs1188721 T G 192.22 . #_unique_end_positions=,38;#_unique_start_positions=,40;AC=56;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.8495;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7003;AN=56;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_443075.3:p.Asp2106Glu|_NP_001092093.2:p.Asp2106Glu|_NP_001258152.2:p.Asp2481Glu;Amino_acid_change_in_longest_transcript=,NP_001258152.2:p.Asp2481Glu;BaseQRankSum=,0.13;CAF_dbsnp_common_v150_hg19_refseq=,0.3045|0.6955;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001098623.2:c.6318T>G|_NM_001271223.2:c.7443T>G|_NM_052843.3:c.6318T>G;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.7443T>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7500;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6640;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,64;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,OBSCN:84033;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,G/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_052843.3|NM_001098623.2|NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5674|rna5673|rna5672;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,228464248;RS_dbsnp_common_v150_hg19_refseq=,1188721;Read_count=,60;Read_coverage=,153;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.8234260632735283;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_052843.3|NM_001098623.2|NM_001271223.2;Reverse_read_coverage=,89;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4601;SF=0,1,2,3,4,5,6,7,8,10,11,12,13,14,15,16,18,19,20,21,22,23,24,25,26,27,29,31,32,33,34,35,36,37,38,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.262914|0.737086;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050100000a0517053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.806122;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.628319;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.670732;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.652941;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.5;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.662791;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.784884;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.855556;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.68;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.891608;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.579545;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.814159;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.994;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_052843.3|Genbank:NM_001098623.2|Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_1|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_2|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_052843.3|NM_001098623.2|NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon22:c.T6318G:p.D2106E,OBSCN:NM_052843:exon22:c.T6318G:p.D2106E,OBSCN:NM_001271223:exon26:c.T7443G:p.D2481E;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.7384;esp6500siv2_ea=0.6965;esp6500siv2_all=0.7384;esp6500siv2_ea=0.6965;1000g2015aug_all=0.695487;avsnp147=rs1188721;Kaviar_AF=0.660729;Kaviar_AC=102150;Kaviar_AN=154602;ExAC_ALL=0.6930;ExAC_AFR=0.8190;ExAC_AMR=0.7452;ExAC_EAS=0.7280;ExAC_FIN=0.7555;ExAC_NFE=0.6998;ExAC_OTH=0.6572;ExAC_SAS=0.5172;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=0.998;MutationTaster_pred=P;MutationAssessor_score=-1.4;MutationAssessor_pred=N;FATHMM_score=3.66;FATHMM_pred=T;PROVEAN_score=1.71;PROVEAN_pred=N;VEST3_score=0.046;CADD_raw=-0.460;CADD_phred=0.276;DANN_score=0.574;fathmm-MKL_coding_score=0.065;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.037;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.455;integrated_confidence_value=0;GERP++_RS=-0.623;phyloP7way_vertebrate=-1.863;phyloP20way_mammalian=-0.337;phastCons7way_vertebrate=0.950;phastCons20way_mammalian=0.548;SiPhy_29way_logOdds=7.276;GDI_full_10282015=.;dpsi_max_tissue=-1.3255;dpsi_zscore=-1.638;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.6914;gnomAD_exome_AFR=0.8154;gnomAD_exome_AMR=0.7458;gnomAD_exome_ASJ=0.6475;gnomAD_exome_EAS=0.7293;gnomAD_exome_FIN=0.7478;gnomAD_exome_NFE=0.6944;gnomAD_exome_OTH=0.6789;gnomAD_exome_SAS=0.5158;gnomAD_genome_ALL=0.7457;gnomAD_genome_AFR=0.8125;gnomAD_genome_AMR=0.75;gnomAD_genome_ASJ=0.6358;gnomAD_genome_EAS=0.7045;gnomAD_genome_FIN=0.7610;gnomAD_genome_NFE=0.7121;gnomAD_genome_OTH=0.7102;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:130:0,53 1/1:184:0,184 1/1:175:0,175 1:178:0,70 1/1:175:0,175 1/1:215:0,215 1:155:0,80 1/1:193:0,193 1:231:0,123 . 1:228:0,96 1/1:200:0,200 1:187:0,90 1/1:240:0,240 1:318:0,167 1:239:0,122 1:227:0,113 . 1/1:173:0,173 1:204:0,89 1/1:152:0,152 1/1:225:0,225 1/1:286:0,286 1:317:0,135 1/1:257:0,257 1:168:0,92 1/1:183:0,183 1:262:0,126 . 1:262:0,114 . 1/1:138:0,138 1/1:202:0,202 1:163:0,78 1:182:0,79 1/1:201:0,201 1/1:160:0,160 1/1:138:0,138 1:156:0,77 1:221:0,105 1:235:0,98 1:174:0,88 1 228464255 rs62621832 T C 200.00 . #_unique_end_positions=,75;#_unique_start_positions=,72;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0029;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_443075.3:p.Trp2109Arg|_NP_001258152.2:p.Trp2484Arg|_NP_001092093.2:p.Trp2109Arg;Amino_acid_change_in_longest_transcript=,NP_001258152.2:p.Trp2484Arg;BaseQRankSum=,0.07;CAF_dbsnp_common_v150_hg19_refseq=,0.9974|0.002596;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001098623.2:c.6325T>C|_NM_001271223.2:c.7450T>C|_NM_052843.3:c.6325T>C;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.7450T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0109;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,139;GENEINFO_dbsnp_common_v150_hg19_refseq=,OBSCN:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_052843.3|NM_001098623.2|NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5674|rna5673|rna5672;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,228464255;RS_dbsnp_common_v150_hg19_refseq=,62621832;Read_count=,159;Read_coverage=,274;Read_direction_test_probability=,0.9903419879252046;Read_position_test_probability=,0.9922660233788133;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_052843.3|NM_001098623.2|NM_001271223.2;Reverse_read_coverage=,135;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=21;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.994642|0.00535788;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050000000a05040436000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.995;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_052843.3|Genbank:NM_001098623.2|Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_1|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_2|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_052843.3|NM_001098623.2|NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon22:c.T6325C:p.W2109R,OBSCN:NM_052843:exon22:c.T6325C:p.W2109R,OBSCN:NM_001271223:exon26:c.T7450C:p.W2484R;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0080;esp6500siv2_ea=0.0109;esp6500siv2_all=0.0080;esp6500siv2_ea=0.0109;1000g2015aug_all=0.00259585;avsnp147=rs62621832;Kaviar_AF=0.0068498;Kaviar_AC=1059;Kaviar_AN=154602;ExAC_ALL=0.0071;ExAC_AFR=0.0024;ExAC_AMR=0.0016;ExAC_EAS=0;ExAC_FIN=0.0051;ExAC_NFE=0.0115;ExAC_OTH=0.0048;ExAC_SAS=0.0009;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=1.0;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=3.14;MutationAssessor_pred=M;FATHMM_score=2.1;FATHMM_pred=T;PROVEAN_score=-10.46;PROVEAN_pred=D;VEST3_score=0.664;CADD_raw=4.777;CADD_phred=24.7;DANN_score=0.916;fathmm-MKL_coding_score=0.974;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.729;MetaSVM_pred=T;MetaLR_score=0.102;MetaLR_pred=T;integrated_fitCons_score=0.455;integrated_confidence_value=0;GERP++_RS=5.14;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=0.950;phastCons7way_vertebrate=0.985;phastCons20way_mammalian=0.581;SiPhy_29way_logOdds=14.955;GDI_full_10282015=.;dpsi_max_tissue=-0.1348;dpsi_zscore=-0.545;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0067;gnomAD_exome_AFR=0.0025;gnomAD_exome_AMR=0.0020;gnomAD_exome_ASJ=0.0221;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0045;gnomAD_exome_NFE=0.0105;gnomAD_exome_OTH=0.0059;gnomAD_exome_SAS=0.0010;gnomAD_genome_ALL=0.0070;gnomAD_genome_AFR=0.0017;gnomAD_genome_AMR=0.0060;gnomAD_genome_ASJ=0.0331;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0077;gnomAD_genome_NFE=0.0102;gnomAD_genome_OTH=0.0061;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . 1:228:0,131 . . . . . . . . . . . . . . . . . . . . 1 228464276 rs1188722 T C 189.04 . #_unique_end_positions=,36;#_unique_start_positions=,35;AC=56;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7330;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6931;AN=56;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001258152.2:p.Phe2491Leu|_NP_001092093.2:p.Phe2116Leu|_NP_443075.3:p.Phe2116Leu;Amino_acid_change_in_longest_transcript=,NP_001258152.2:p.Phe2491Leu;BaseQRankSum=,0.12;CAF_dbsnp_common_v150_hg19_refseq=,0.3365|0.6635;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001098623.2:c.6346T>C|_NM_001271223.2:c.7471T>C|_NM_052843.3:c.6346T>C;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.7471T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7500;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6630;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,54;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,OBSCN:84033;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_052843.3|NM_001098623.2|NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5674|rna5673|rna5672;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,228464276;RS_dbsnp_common_v150_hg19_refseq=,1188722;Read_count=,58;Read_coverage=,150;Read_direction_test_probability=,0.9668548516014787;Read_position_test_probability=,0.6096183962751354;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_052843.3|NM_001098623.2|NM_001271223.2;Reverse_read_coverage=,96;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4601;SF=0,1,2,3,4,5,6,7,8,10,11,12,13,14,15,16,18,19,20,21,22,23,24,25,26,27,29,31,32,33,34,35,36,37,38,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.306979|0.693021;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128000a0517053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.678571;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.744186;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.708333;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.082;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_052843.3|Genbank:NM_001098623.2|Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_1|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_2|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_052843.3|NM_001098623.2|NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon22:c.T6346C:p.F2116L,OBSCN:NM_052843:exon22:c.T6346C:p.F2116L,OBSCN:NM_001271223:exon26:c.T7471C:p.F2491L;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.7089;esp6500siv2_ea=0.6960;esp6500siv2_all=0.7089;esp6500siv2_ea=0.6960;1000g2015aug_all=0.663538;avsnp147=rs1188722;Kaviar_AF=0.648944;Kaviar_AC=100328;Kaviar_AN=154602;ExAC_ALL=0.6843;ExAC_AFR=0.7208;ExAC_AMR=0.7400;ExAC_EAS=0.7297;ExAC_FIN=0.7553;ExAC_NFE=0.6993;ExAC_OTH=0.6523;ExAC_SAS=0.5187;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_pred=N;MutationTaster_score=0.985;MutationTaster_pred=P;MutationAssessor_score=-2.96;MutationAssessor_pred=N;FATHMM_score=3.98;FATHMM_pred=T;PROVEAN_score=2.54;PROVEAN_pred=N;VEST3_score=0.115;CADD_raw=-0.742;CADD_phred=0.058;DANN_score=0.573;fathmm-MKL_coding_score=0.296;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.984;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.455;integrated_confidence_value=0;GERP++_RS=4.23;phyloP7way_vertebrate=0.002;phyloP20way_mammalian=-0.454;phastCons7way_vertebrate=0.052;phastCons20way_mammalian=0.007;SiPhy_29way_logOdds=11.771;GDI_full_10282015=.;dpsi_max_tissue=-0.1142;dpsi_zscore=-0.491;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.6829;gnomAD_exome_AFR=0.7134;gnomAD_exome_AMR=0.7399;gnomAD_exome_ASJ=0.6380;gnomAD_exome_EAS=0.7298;gnomAD_exome_FIN=0.7473;gnomAD_exome_NFE=0.6931;gnomAD_exome_OTH=0.6715;gnomAD_exome_SAS=0.5151;gnomAD_genome_ALL=0.7177;gnomAD_genome_AFR=0.7154;gnomAD_genome_AMR=0.7416;gnomAD_genome_ASJ=0.6258;gnomAD_genome_EAS=0.7037;gnomAD_genome_FIN=0.7610;gnomAD_genome_NFE=0.7115;gnomAD_genome_OTH=0.7082;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:130:0,52 1/1:182:0,181 1/1:160:0,160 1:178:0,72 1/1:164:0,164 1/1:215:0,215 1:149:0,80 1/1:185:0,185 1:215:0,115 . 1:232:0,103 1/1:195:0,195 1:190:0,97 1/1:233:0,233 1:308:0,163 1:259:0,129 1:221:0,107 . 1/1:159:0,159 1:209:0,90 1/1:151:0,151 1/1:234:0,234 1/1:275:0,275 1:319:0,130 1/1:247:0,247 1:151:0,85 1/1:188:0,188 1:257:0,126 . 1:243:0,104 . 1/1:138:0,138 1/1:192:0,192 1:166:0,79 1:191:0,79 1/1:207:0,207 1/1:155:0,155 1/1:119:0,119 1:151:0,75 1:213:0,96 1:224:0,97 1:178:0,90 1 228464303 rs75280352 G T 200.00 . #_unique_end_positions=,40;#_unique_start_positions=,38;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0008;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0101;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_443075.3:p.Ala2125Ser|_NP_001258152.2:p.Ala2500Ser|_NP_001092093.2:p.Ala2125Ser;Amino_acid_change_in_longest_transcript=,NP_001258152.2:p.Ala2500Ser;BaseQRankSum=,0.25;CAF_dbsnp_common_v150_hg19_refseq=,0.9954|0.004593;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001098623.2:c.6373G>T|_NM_001271223.2:c.7498G>T|_NM_052843.3:c.6373G>T;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.7498G>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0139;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,54;GENEINFO_dbsnp_common_v150_hg19_refseq=,OBSCN:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,G/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_052843.3|NM_001098623.2|NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5674|rna5673|rna5672;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,228464303;RS_dbsnp_common_v150_hg19_refseq=,75280352;Read_count=,62;Read_coverage=,148;Read_direction_test_probability=,0.9107574130258016;Read_position_test_probability=,0.6400784569573992;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_052843.3|NM_001098623.2|NM_001271223.2;Reverse_read_coverage=,94;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;SF=20;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.984098|0.0159019;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050000000a05040436000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.075;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_052843.3|Genbank:NM_001098623.2|Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_1|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_2|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_052843.3|NM_001098623.2|NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon22:c.G6373T:p.A2125S,OBSCN:NM_052843:exon22:c.G6373T:p.A2125S,OBSCN:NM_001271223:exon26:c.G7498T:p.A2500S;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0201;esp6500siv2_ea=0.0278;esp6500siv2_all=0.0201;esp6500siv2_ea=0.0278;1000g2015aug_all=0.00459265;avsnp147=rs75280352;Kaviar_AF=0.0173413;Kaviar_AC=2681;Kaviar_AN=154602;ExAC_ALL=0.0204;ExAC_AFR=0.0045;ExAC_AMR=0.0108;ExAC_EAS=0.0001;ExAC_FIN=0.0381;ExAC_NFE=0.0290;ExAC_OTH=0.0234;ExAC_SAS=0.0071;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.816;SIFT_pred=T;Polyphen2_HDIV_score=0.844;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.292;Polyphen2_HVAR_pred=B;LRT_score=0.026;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0.305;MutationAssessor_pred=N;FATHMM_score=3.67;FATHMM_pred=T;PROVEAN_score=-0.56;PROVEAN_pred=N;VEST3_score=0.081;CADD_raw=1.771;CADD_phred=14.82;DANN_score=0.968;fathmm-MKL_coding_score=0.218;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.959;MetaSVM_pred=T;MetaLR_score=0.002;MetaLR_pred=T;integrated_fitCons_score=0.455;integrated_confidence_value=0;GERP++_RS=1.86;phyloP7way_vertebrate=0.069;phyloP20way_mammalian=0.943;phastCons7way_vertebrate=0.004;phastCons20way_mammalian=0.012;SiPhy_29way_logOdds=4.583;GDI_full_10282015=.;dpsi_max_tissue=-0.1549;dpsi_zscore=-0.592;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0183;gnomAD_exome_AFR=0.0038;gnomAD_exome_AMR=0.0094;gnomAD_exome_ASJ=0.0255;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0.0334;gnomAD_exome_NFE=0.0253;gnomAD_exome_OTH=0.0221;gnomAD_exome_SAS=0.0072;gnomAD_genome_ALL=0.0196;gnomAD_genome_AFR=0.0051;gnomAD_genome_AMR=0.0119;gnomAD_genome_ASJ=0.0199;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0313;gnomAD_genome_NFE=0.0274;gnomAD_genome_OTH=0.0245;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . 1:143:0,61 . . . . . . . . . . . . . . . . . . . . . 1 228464398 . G A 200.00 . #_unique_end_positions=,61;#_unique_start_positions=,44;AC=1;AN=1;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.13;Coding_region_change=,NM_001098623.2:c.6468G>A|_NM_001271223.2:c.7593G>A|_NM_052843.3:c.6468G>A;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.7593G>A;Forward_read_coverage=,89;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_052843.3|NM_001098623.2|NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5674|rna5673|rna5672;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;Non-synonymous=,No;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;Read_count=,114;Read_coverage=,239;Read_direction_test_probability=,0.9991169497763487;Read_position_test_probability=,0.9880116356796766;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_052843.3|NM_001098623.2|NM_001271223.2;Reverse_read_coverage=,150;SF=27;conservation_score=,0.0;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_052843.3|Genbank:NM_001098623.2|Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_1|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_2|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_052843.3|NM_001098623.2|NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon22:c.G6468A:p.S2156S,OBSCN:NM_052843:exon22:c.G6468A:p.S2156S,OBSCN:NM_001271223:exon26:c.G7593A:p.S2531S;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.6676;dpsi_zscore=-1.243;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:226:0,107 . . . . . . . . . . . . . . 1 228464633 rs201269256 C G 147.02 . #_unique_end_positions=,19;#_unique_start_positions=,15;AC=2;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0091;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0014;AN=2;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001258152.2:p.Leu2539Val|_NP_001092093.2:p.Leu2164Val|_NP_443075.3:p.Leu2164Val;Amino_acid_change_in_longest_transcript=,NP_001258152.2:p.Leu2539Val;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.997|0.002995;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001098623.2:c.6490C>G|_NM_001271223.2:c.7615C>G|_NM_052843.3:c.6490C>G;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.7615C>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,22;GENEINFO_dbsnp_common_v150_hg19_refseq=,OBSCN:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,C/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_052843.3|NM_001098623.2|NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5674|rna5673|rna5672;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,153.5252977886304;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,228464633;RS_dbsnp_common_v150_hg19_refseq=,201269256;Read_count=,21;Read_coverage=,43;Read_direction_test_probability=,0.8999840503011619;Read_position_test_probability=,0.7636951397580611;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_052843.3|NM_001098623.2|NM_001271223.2;Reverse_read_coverage=,21;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;SF=4,33;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.992238|0.00776206;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050100000a05040426000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_052843.3|Genbank:NM_001098623.2|Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_1|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_2|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_052843.3|NM_001098623.2|NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon23:c.C6490G:p.L2164V,OBSCN:NM_052843:exon23:c.C6490G:p.L2164V,OBSCN:NM_001271223:exon27:c.C7615G:p.L2539V;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0064;esp6500siv2_ea=0.0026;esp6500siv2_all=0.0064;esp6500siv2_ea=0.0026;1000g2015aug_all=0.00299521;avsnp147=rs201269256;Kaviar_AF=0.002238;Kaviar_AC=346;Kaviar_AN=154602;ExAC_ALL=0.0056;ExAC_AFR=0.0203;ExAC_AMR=0.0058;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0069;ExAC_OTH=0;ExAC_SAS=0.0005;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.663;SIFT_pred=T;Polyphen2_HDIV_score=0.998;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.94;Polyphen2_HVAR_pred=D;LRT_score=0.001;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.64;MutationAssessor_pred=M;FATHMM_score=3.52;FATHMM_pred=T;PROVEAN_score=-1.36;PROVEAN_pred=N;VEST3_score=0.161;CADD_raw=2.771;CADD_phred=21.2;DANN_score=0.966;fathmm-MKL_coding_score=0.891;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.117;MetaSVM_pred=T;MetaLR_score=0.033;MetaLR_pred=T;integrated_fitCons_score=0.581;integrated_confidence_value=0;GERP++_RS=2.31;phyloP7way_vertebrate=0.008;phyloP20way_mammalian=-0.015;phastCons7way_vertebrate=0.148;phastCons20way_mammalian=0.157;SiPhy_29way_logOdds=7.342;GDI_full_10282015=.;dpsi_max_tissue=-0.2844;dpsi_zscore=-0.830;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0034;gnomAD_exome_AFR=0.0148;gnomAD_exome_AMR=0.0040;gnomAD_exome_ASJ=0.0288;gnomAD_exome_EAS=0;gnomAD_exome_FIN=5.41e-05;gnomAD_exome_NFE=0.0010;gnomAD_exome_OTH=0.0071;gnomAD_exome_SAS=0.0005;gnomAD_genome_ALL=0.0050;gnomAD_genome_AFR=0.0149;gnomAD_genome_AMR=0.0060;gnomAD_genome_ASJ=0.0265;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0007;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:DP:CLCAD2 . . . . 1:41:0,21 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:59:0,36 . . . . . . . . 1 228464713 . G A 200.00 . #_unique_end_positions=,26;#_unique_start_positions=,25;AC=1;AN=1;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;Coding_region_change=,NM_001098623.2:c.6570G>A|_NM_001271223.2:c.7695G>A|_NM_052843.3:c.6570G>A;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.7695G>A;Forward_read_coverage=,37;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_052843.3|NM_001098623.2|NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5674|rna5673|rna5672;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;Non-synonymous=,No;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;Read_count=,35;Read_coverage=,73;Read_direction_test_probability=,0.9465570439386553;Read_position_test_probability=,0.9796621700154079;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_052843.3|NM_001098623.2|NM_001271223.2;Reverse_read_coverage=,36;SF=4;conservation_score=,0.003;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_052843.3|Genbank:NM_001098623.2|Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_1|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_2|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_052843.3|NM_001098623.2|NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon23:c.G6570A:p.S2190S,OBSCN:NM_052843:exon23:c.G6570A:p.S2190S,OBSCN:NM_001271223:exon27:c.G7695A:p.S2565S;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0003;esp6500siv2_ea=0.0005;esp6500siv2_all=0.0003;esp6500siv2_ea=0.0005;1000g2015aug_all=.;avsnp147=rs374013818;Kaviar_AF=9.7e-05;Kaviar_AC=15;Kaviar_AN=154602;ExAC_ALL=0.0003;ExAC_AFR=0;ExAC_AMR=0.0005;ExAC_EAS=0.0004;ExAC_FIN=0;ExAC_NFE=0.0004;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.3499;dpsi_zscore=-0.922;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=9.312e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0002;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0001;gnomAD_exome_OTH=0.0004;gnomAD_exome_SAS=0;gnomAD_genome_ALL=6.475e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.688e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:DP:CLCAD2 . . . . 1:69:0,33 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 228465346 rs493945 A G 198.61 . #_unique_end_positions=,34;#_unique_start_positions=,34;AC=33;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3585;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3617;AN=33;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001258152.2:p.Asn2674Asp;Amino_acid_change_in_longest_transcript=,NP_001258152.2:p.Asn2674Asp;BaseQRankSum=,0.19;CAF_dbsnp_common_v150_hg19_refseq=,0.6699|0.3301;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001098623.2:c.6755-109A>G|_NM_001271223.2:c.8020A>G|_NM_052843.3:c.6755-109A>G;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.8020A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3780;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3638;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,51;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,OBSCN:84033;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5672;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,228465346;RS_dbsnp_common_v150_hg19_refseq=,493945;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,53;Read_coverage=,100;Read_direction_test_probability=,0.985288258710238;Read_position_test_probability=,0.9906475201849122;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001271223.2;Reverse_read_coverage=,49;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1851;SF=0,1,2,4,5,6,7,11,13,14,15,16,18,20,21,22,23,24,26,27,29,31,33,35,36,37,38,39,40;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.634187|0.365813;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050100080a0517053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.377551;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.364865;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.325;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.352941;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.232955;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.383721;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.369048;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.294444;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.37;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.216783;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.333333;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.279817;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.934;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001271223:exon29:c.A8020G:p.N2674D;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.330072;avsnp147=rs493945;Kaviar_AF=0.303961;Kaviar_AC=46993;Kaviar_AN=154602;ExAC_ALL=0.4609;ExAC_AFR=0.4827;ExAC_AMR=0.5538;ExAC_EAS=0.5253;ExAC_FIN=0.5455;ExAC_NFE=0.5114;ExAC_OTH=0.4653;ExAC_SAS=0.2767;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1e-37;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=1.01;FATHMM_pred=T;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=0.109;CADD_raw=3.591;CADD_phred=23.2;DANN_score=0.990;fathmm-MKL_coding_score=0.976;fathmm-MKL_coding_pred=D;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=0.696;integrated_confidence_value=0;GERP++_RS=4.49;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.007;phastCons7way_vertebrate=0.984;phastCons20way_mammalian=0.958;SiPhy_29way_logOdds=13.940;GDI_full_10282015=.;dpsi_max_tissue=5.8719;dpsi_zscore=2.709;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3659;gnomAD_exome_AFR=0.3758;gnomAD_exome_AMR=0.4011;gnomAD_exome_ASJ=0.3863;gnomAD_exome_EAS=0.4025;gnomAD_exome_FIN=0.3771;gnomAD_exome_NFE=0.3862;gnomAD_exome_OTH=0.3704;gnomAD_exome_SAS=0.2318;gnomAD_genome_ALL=0.3806;gnomAD_genome_AFR=0.3737;gnomAD_genome_AMR=0.4212;gnomAD_genome_ASJ=0.3576;gnomAD_genome_EAS=0.3942;gnomAD_genome_FIN=0.3894;gnomAD_genome_NFE=0.3808;gnomAD_genome_OTH=0.3592;Whole_Blood=Whole_Blood::0.367209::0.272227;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:84:0,43 1/1:168:0,168 1:142:0,76 . 1/1:117:0,117 1:202:0,93 1:106:0,45 1:168:0,82 . . . 1/1:147:0,147 . 1:182:0,97 1:240:0,125 1:150:0,79 1:166:0,93 . 1:121:0,50 . 1:143:0,71 1/1:156:0,156 1:268:0,139 1:236:0,118 1:200:0,89 . 1:170:0,79 1:200:0,98 . 1:201:0,107 . 1:93:0,42 . 1:128:0,55 . 1:160:0,79 1:128:0,69 1:108:0,49 1:121:0,57 1:164:0,79 1:183:0,98 . 1 228468458 rs1188697 G A 198.24 . #_unique_end_positions=,58;#_unique_start_positions=,41;AC=26;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4690;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3343;AN=26;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001092093.2:p.Val2720Met|_NP_001258152.2:p.Val3149Met|_NP_443075.3:p.Val2720Met;Amino_acid_change_in_longest_transcript=,NP_001258152.2:p.Val3149Met;BaseQRankSum=,-1.11;CAF_dbsnp_common_v150_hg19_refseq=,0.6811|0.3189;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001098623.2:c.8158G>A|_NM_001271223.2:c.9445G>A|_NM_052843.3:c.8158G>A;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.9445G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2470;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2962;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,57;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,OBSCN:84033;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_052843.3|NM_001098623.2|NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5674|rna5673|rna5672;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,228468458;RS_dbsnp_common_v150_hg19_refseq=,1188697;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,85;Read_coverage=,147;Read_direction_test_probability=,0.8243136422224807;Read_position_test_probability=,0.8980328262629667;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_052843.3|NM_001098623.2|NM_001271223.2;Reverse_read_coverage=,90;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2025;SF=2,3,5,7,8,10,12,13,18,19,20,22,24,25,26,27,31,32,34,35,36,37,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.658367|0.341633;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050100000a0517053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.428571;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.234513;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.243902;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.235294;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.229885;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.104651;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.317647;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.377778;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.336735;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.297203;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.244318;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.504464;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.253;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_052843.3|Genbank:NM_001098623.2|Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_1|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_2|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_052843.3|NM_001098623.2|NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon30:c.G8158A:p.V2720M,OBSCN:NM_052843:exon30:c.G8158A:p.V2720M,OBSCN:NM_001271223:exon35:c.G9445A:p.V3149M;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.2962;esp6500siv2_ea=0.2785;esp6500siv2_all=0.2962;esp6500siv2_ea=0.2785;1000g2015aug_all=0.31889;avsnp147=rs1188697;Kaviar_AF=0.288424;Kaviar_AC=44591;Kaviar_AN=154602;ExAC_ALL=0.3004;ExAC_AFR=0.4028;ExAC_AMR=0.2863;ExAC_EAS=0.2060;ExAC_FIN=0.3870;ExAC_NFE=0.3115;ExAC_OTH=0.2897;ExAC_SAS=0.2283;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.141;SIFT_pred=T;Polyphen2_HDIV_score=0.998;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.862;Polyphen2_HVAR_pred=P;LRT_score=0.408;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=1.61;MutationAssessor_pred=L;FATHMM_score=-0.61;FATHMM_pred=T;PROVEAN_score=-1.1;PROVEAN_pred=N;VEST3_score=0.444;CADD_raw=1.572;CADD_phred=13.70;DANN_score=0.989;fathmm-MKL_coding_score=0.057;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.998;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.696;integrated_confidence_value=0;GERP++_RS=0.451;phyloP7way_vertebrate=0.067;phyloP20way_mammalian=0.134;phastCons7way_vertebrate=0.336;phastCons20way_mammalian=0.474;SiPhy_29way_logOdds=8.559;GDI_full_10282015=.;dpsi_max_tissue=-0.2002;dpsi_zscore=-0.687;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2947;gnomAD_exome_AFR=0.3907;gnomAD_exome_AMR=0.2927;gnomAD_exome_ASJ=0.2392;gnomAD_exome_EAS=0.2020;gnomAD_exome_FIN=0.3793;gnomAD_exome_NFE=0.3061;gnomAD_exome_OTH=0.2924;gnomAD_exome_SAS=0.2259;gnomAD_genome_ALL=0.3390;gnomAD_genome_AFR=0.3926;gnomAD_genome_AMR=0.2859;gnomAD_genome_ASJ=0.2550;gnomAD_genome_EAS=0.2020;gnomAD_genome_FIN=0.3732;gnomAD_genome_NFE=0.3193;gnomAD_genome_OTH=0.3385;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . 1:144:0,83 1:146:0,66 . 1:189:0,95 . 1/1:142:0,142 1:199:0,84 . 1:204:0,92 . 1:154:0,83 1:132:0,57 . . . . 1:162:0,76 1:118:0,47 1:121:0,51 . 1:280:0,126 . 1:173:0,96 1:146:0,78 1:125:0,60 1:222:0,87 . . . 1:78:0,41 1/1:144:0,144 . 1:155:0,77 1:150:0,68 1:142:0,61 1/1:122:0,122 . . . 1:124:0,47 1 228469801 rs150312546 G C 200.00 . #_unique_end_positions=,67;#_unique_start_positions=,62;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0030;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0288;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_443075.3:p.Gly2789Arg|_NP_001258152.2:p.Gly3218Arg|_NP_001092093.2:p.Gly2789Arg;Amino_acid_change_in_longest_transcript=,NP_001258152.2:p.Gly3218Arg;BaseQRankSum=,-0.26;CAF_dbsnp_common_v150_hg19_refseq=,0.9888|0.01118;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001098623.2:c.8365G>C|_NM_001271223.2:c.9652G>C|_NM_052843.3:c.8365G>C;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.9652G>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0258;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,119;GENEINFO_dbsnp_common_v150_hg19_refseq=,OBSCN:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,C/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_052843.3|NM_001098623.2|NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5674|rna5673|rna5672;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,228469801;RS_dbsnp_common_v150_hg19_refseq=,150312546;Read_count=,155;Read_coverage=,354;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9872209260509576;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_052843.3|NM_001098623.2|NM_001271223.2;Reverse_read_coverage=,235;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0061;SF=22;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.986021|0.0139786;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050000000a05140436000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_052843.3|Genbank:NM_001098623.2|Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_1|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_2|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_052843.3|NM_001098623.2|NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon31:c.G8365C:p.G2789R,OBSCN:NM_052843:exon31:c.G8365C:p.G2789R,OBSCN:NM_001271223:exon36:c.G9652C:p.G3218R;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0158;esp6500siv2_ea=0.0219;esp6500siv2_all=0.0158;esp6500siv2_ea=0.0219;1000g2015aug_all=0.0111821;avsnp147=rs150312546;Kaviar_AF=0.0150516;Kaviar_AC=2327;Kaviar_AN=154602;ExAC_ALL=0.0151;ExAC_AFR=0.0037;ExAC_AMR=0.0128;ExAC_EAS=0.0004;ExAC_FIN=0.0075;ExAC_NFE=0.0216;ExAC_OTH=0.0186;ExAC_SAS=0.0074;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.009;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=1.0;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.865;MutationAssessor_pred=M;FATHMM_score=0.76;FATHMM_pred=T;PROVEAN_score=-5.78;PROVEAN_pred=D;VEST3_score=0.691;CADD_raw=5.043;CADD_phred=25.2;DANN_score=0.999;fathmm-MKL_coding_score=0.992;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.453;MetaSVM_pred=T;MetaLR_score=0.123;MetaLR_pred=T;integrated_fitCons_score=0.646;integrated_confidence_value=0;GERP++_RS=4.45;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.949;phastCons7way_vertebrate=0.945;phastCons20way_mammalian=0.320;SiPhy_29way_logOdds=17.475;GDI_full_10282015=.;dpsi_max_tissue=0.7786;dpsi_zscore=1.371;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0146;gnomAD_exome_AFR=0.0039;gnomAD_exome_AMR=0.0141;gnomAD_exome_ASJ=0.0222;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0.0075;gnomAD_exome_NFE=0.0211;gnomAD_exome_OTH=0.0174;gnomAD_exome_SAS=0.0075;gnomAD_genome_ALL=0.0133;gnomAD_genome_AFR=0.0033;gnomAD_genome_AMR=0.0179;gnomAD_genome_ASJ=0.0132;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0066;gnomAD_genome_NFE=0.0214;gnomAD_genome_OTH=0.0194;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . 1:317:0,142 . . . . . . . . . . . . . . . . . . . 1 228470906 . C T 200.00 . #_unique_end_positions=,74;#_unique_start_positions=,59;AC=1;AN=1;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.47;Coding_region_change=,NM_001098623.2:c.8658C>T|_NM_001271223.2:c.9945C>T|_NM_052843.3:c.8658C>T;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.9945C>T;Forward_read_coverage=,128;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_052843.3|NM_001098623.2|NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5674|rna5673|rna5672;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;Non-synonymous=,No;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;Read_count=,124;Read_coverage=,270;Read_direction_test_probability=,0.9190315335513317;Read_position_test_probability=,0.8951618981636146;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_052843.3|NM_001098623.2|NM_001271223.2;Reverse_read_coverage=,142;SF=28;conservation_score=,0.0;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_052843.3|Genbank:NM_001098623.2|Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_1|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_2|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_052843.3|NM_001098623.2|NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon32:c.C8658T:p.R2886R,OBSCN:NM_052843:exon32:c.C8658T:p.R2886R,OBSCN:NM_001271223:exon37:c.C9945T:p.R3315R;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=7.9e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=7.9e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=.;avsnp147=rs375320656;Kaviar_AF=6.47e-05;Kaviar_AC=10;Kaviar_AN=154602;ExAC_ALL=0.0002;ExAC_AFR=0;ExAC_AMR=0.0004;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0004;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1798;dpsi_zscore=-0.646;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=5.968e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0001;gnomAD_exome_OTH=0;gnomAD_exome_SAS=7.693e-05;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:246:0,114 . . . . . . . . . . . . . 1 228471379 rs56168609 G C 196.64 . #_unique_end_positions=,46;#_unique_start_positions=,47;AC=29;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1989;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3242;AN=29;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.7698|0.2302;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001098623.2:c.8913G>C|_NM_001271223.2:c.10200G>C|_NM_052843.3:c.8913G>C;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.10200G>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1528;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3499;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,82;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,OBSCN:84033;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,C/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_052843.3|NM_001098623.2|NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5674|rna5673|rna5672;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;Non-synonymous=,No;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,228471379;RS_dbsnp_common_v150_hg19_refseq=,56168609;Read_count=,84;Read_coverage=,190;Read_direction_test_probability=,0.9641085671401878;Read_position_test_probability=,0.5153273520076302;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_052843.3|NM_001098623.2|NM_001271223.2;Reverse_read_coverage=,108;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1626;SF=0,1,2,4,5,6,11,13,14,15,16,18,20,21,22,23,24,26,29,31,33,36,38,39,40;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.698001|0.301999;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05010000030517053e000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.14;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_052843.3|Genbank:NM_001098623.2|Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_1|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_2|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_052843.3|NM_001098623.2|NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon33:c.G8913C:p.R2971R,OBSCN:NM_052843:exon33:c.G8913C:p.R2971R,OBSCN:NM_001271223:exon38:c.G10200C:p.R3400R;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.3276;esp6500siv2_ea=0.3681;esp6500siv2_all=0.3276;esp6500siv2_ea=0.3681;1000g2015aug_all=0.230232;avsnp147=rs56168609;Kaviar_AF=0.318256;Kaviar_AC=49203;Kaviar_AN=154602;ExAC_ALL=0.3214;ExAC_AFR=0.2431;ExAC_AMR=0.3826;ExAC_EAS=0.1522;ExAC_FIN=0.3253;ExAC_NFE=0.3727;ExAC_OTH=0.3235;ExAC_SAS=0.2052;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.6805;dpsi_zscore=-1.789;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3258;gnomAD_exome_AFR=0.2479;gnomAD_exome_AMR=0.3825;gnomAD_exome_ASJ=0.3818;gnomAD_exome_EAS=0.1528;gnomAD_exome_FIN=0.3322;gnomAD_exome_NFE=0.3719;gnomAD_exome_OTH=0.3400;gnomAD_exome_SAS=0.2077;gnomAD_genome_ALL=0.3217;gnomAD_genome_AFR=0.2520;gnomAD_genome_AMR=0.3935;gnomAD_genome_ASJ=0.3433;gnomAD_genome_EAS=0.1393;gnomAD_genome_FIN=0.3528;gnomAD_genome_NFE=0.3705;gnomAD_genome_OTH=0.3217;Whole_Blood=Whole_Blood::0.331978::0.351552;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:162:0,74 1/1:192:0,192 1:226:0,117 . 1/1:144:0,144 1:285:0,143 1:185:0,101 . . . . 1/1:230:0,230 . 1:231:0,102 1:348:0,157 1:278:0,143 1:251:0,103 . 1:213:0,91 . 1:194:0,108 1/1:263:0,263 1:372:0,170 1:341:0,174 1:265:0,112 . 1:228:0,122 . . 1:277:0,123 . 1:172:0,100 . 1:187:0,87 . . 1:193:0,98 . 1:189:0,103 1:271:0,141 1:212:0,98 . 1 228474032 rs116080935 G A 200.00 . #_unique_end_positions=,44;#_unique_start_positions=,36;AC=2;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0310;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0072;AN=2;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.9904|0.009585;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001098623.2:c.9258G>A|_NM_001271223.2:c.10545G>A|_NM_052843.3:c.9258G>A;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.10545G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,43;GENEINFO_dbsnp_common_v150_hg19_refseq=,OBSCN:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_052843.3|NM_001098623.2|NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5674|rna5673|rna5672;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;Non-synonymous=,No;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,228474032;RS_dbsnp_common_v150_hg19_refseq=,116080935;Read_count=,71;Read_coverage=,147;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9951521150085011;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_052843.3|NM_001098623.2|NM_001271223.2;Reverse_read_coverage=,104;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;SF=4,33;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.981316|0.0186839;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050100000305040436000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.009;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_052843.3|Genbank:NM_001098623.2|Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_1|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_2|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_052843.3|NM_001098623.2|NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon34:c.G9258A:p.S3086S,OBSCN:NM_052843:exon34:c.G9258A:p.S3086S,OBSCN:NM_001271223:exon39:c.G10545A:p.S3515S;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0125;esp6500siv2_ea=0.0028;esp6500siv2_all=0.0125;esp6500siv2_ea=0.0028;1000g2015aug_all=0.00958466;avsnp147=rs116080935;Kaviar_AF=0.0034734;Kaviar_AC=537;Kaviar_AN=154602;ExAC_ALL=0.0084;ExAC_AFR=0.0517;ExAC_AMR=0.0123;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0081;ExAC_OTH=0;ExAC_SAS=0.0003;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.2328;dpsi_zscore=-0.747;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0053;gnomAD_exome_AFR=0.0408;gnomAD_exome_AMR=0.0058;gnomAD_exome_ASJ=0.0304;gnomAD_exome_EAS=0;gnomAD_exome_FIN=5.841e-05;gnomAD_exome_NFE=0.0012;gnomAD_exome_OTH=0.0089;gnomAD_exome_SAS=0.0006;gnomAD_genome_ALL=0.0122;gnomAD_genome_AFR=0.0398;gnomAD_genome_AMR=0.0060;gnomAD_genome_ASJ=0.0265;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0009;gnomAD_genome_OTH=0.0031;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:DP:CLCAD2 . . . . 1:133:0,63 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:151:0,69 . . . . . . . . 1 228475594 rs79290523 G A 200.00 . #_unique_end_positions=,70;#_unique_start_positions=,71;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.11;CAF_dbsnp_common_v150_hg19_refseq=,0.9988|0.001198;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001098623.2:c.9744G>A|_NM_001271223.2:c.11031G>A|_NM_052843.3:c.9744G>A;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.11031G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0050;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,163;GENEINFO_dbsnp_common_v150_hg19_refseq=,OBSCN:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_052843.3|NM_001098623.2|NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5674|rna5673|rna5672;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;Non-synonymous=,No;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,228475594;RS_dbsnp_common_v150_hg19_refseq=,79290523;Read_count=,146;Read_coverage=,299;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9628927126160074;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_052843.3|NM_001098623.2|NM_001271223.2;Reverse_read_coverage=,136;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;SF=13;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.998283|0.00171727;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050100000305040436000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.002;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_052843.3|Genbank:NM_001098623.2|Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_1|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_2|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_052843.3|NM_001098623.2|NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon36:c.G9744A:p.P3248P,OBSCN:NM_052843:exon36:c.G9744A:p.P3248P,OBSCN:NM_001271223:exon41:c.G11031A:p.P3677P;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0026;esp6500siv2_ea=0.0036;esp6500siv2_all=0.0026;esp6500siv2_ea=0.0036;1000g2015aug_all=0.00119808;avsnp147=rs79290523;Kaviar_AF=0.0022639;Kaviar_AC=350;Kaviar_AN=154602;ExAC_ALL=0.0019;ExAC_AFR=0.0010;ExAC_AMR=0.0003;ExAC_EAS=0.0002;ExAC_FIN=0.0002;ExAC_NFE=0.0028;ExAC_OTH=0.0022;ExAC_SAS=0.0015;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0715;dpsi_zscore=-0.354;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0021;gnomAD_exome_AFR=0.0010;gnomAD_exome_AMR=0.0011;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0.0003;gnomAD_exome_NFE=0.0037;gnomAD_exome_OTH=0.0009;gnomAD_exome_SAS=0.0015;gnomAD_genome_ALL=0.0027;gnomAD_genome_AFR=0.0007;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0049;gnomAD_genome_OTH=0.0031;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:DP:CLCAD2 . . . . . . . . . . . . . 1:264:0,132 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 228475848 rs437129 G A 198.11 . #_unique_end_positions=,45;#_unique_start_positions=,41;AC=26;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4153;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3242;AN=26;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001092093.2:p.Ala3300Thr|_NP_443075.3:p.Ala3300Thr|_NP_001258152.2:p.Ala3729Thr;Amino_acid_change_in_longest_transcript=,NP_001258152.2:p.Ala3729Thr;BaseQRankSum=,-0.22;CAF_dbsnp_common_v150_hg19_refseq=,0.6973|0.3027;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001098623.2:c.9898G>A|_NM_001271223.2:c.11185G>A|_NM_052843.3:c.9898G>A;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.11185G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2470;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2932;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,81;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,OBSCN:84033;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_052843.3|NM_001098623.2|NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5674|rna5673|rna5672;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,228475848;RS_dbsnp_common_v150_hg19_refseq=,437129;Read_count=,76;Read_coverage=,201;Read_direction_test_probability=,0.9513742368820267;Read_position_test_probability=,0.8989861226345616;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_052843.3|NM_001098623.2|NM_001271223.2;Reverse_read_coverage=,120;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2025;SF=2,3,5,7,8,10,12,13,18,19,20,22,24,25,26,27,31,32,34,35,36,37,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.67942|0.32058;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050100000a0517053e000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.957;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_052843.3|Genbank:NM_001098623.2|Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_1|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_2|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_052843.3|NM_001098623.2|NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon37:c.G9898A:p.A3300T,OBSCN:NM_052843:exon37:c.G9898A:p.A3300T,OBSCN:NM_001271223:exon42:c.G11185A:p.A3729T;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.3055;esp6500siv2_ea=0.2973;esp6500siv2_all=0.3055;esp6500siv2_ea=0.2973;1000g2015aug_all=0.302716;avsnp147=rs437129;Kaviar_AF=0.289078;Kaviar_AC=44692;Kaviar_AN=154602;ExAC_ALL=0.2923;ExAC_AFR=0.3499;ExAC_AMR=0.2816;ExAC_EAS=0.2052;ExAC_FIN=0.3863;ExAC_NFE=0.3041;ExAC_OTH=0.2833;ExAC_SAS=0.2265;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.424;SIFT_pred=T;Polyphen2_HDIV_score=0.968;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.855;Polyphen2_HVAR_pred=P;LRT_score=0.493;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=2.22;MutationAssessor_pred=M;FATHMM_score=-0.21;FATHMM_pred=T;PROVEAN_score=-1.21;PROVEAN_pred=N;VEST3_score=0.22;CADD_raw=4.107;CADD_phred=23.7;DANN_score=0.998;fathmm-MKL_coding_score=0.363;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.972;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.646;integrated_confidence_value=0;GERP++_RS=4.99;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.045;phastCons7way_vertebrate=0.992;phastCons20way_mammalian=0.515;SiPhy_29way_logOdds=10.701;GDI_full_10282015=.;dpsi_max_tissue=0.2618;dpsi_zscore=0.832;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2908;gnomAD_exome_AFR=0.3469;gnomAD_exome_AMR=0.2902;gnomAD_exome_ASJ=0.2390;gnomAD_exome_EAS=0.2017;gnomAD_exome_FIN=0.3788;gnomAD_exome_NFE=0.3017;gnomAD_exome_OTH=0.2916;gnomAD_exome_SAS=0.2270;gnomAD_genome_ALL=0.3248;gnomAD_genome_AFR=0.3473;gnomAD_genome_AMR=0.2847;gnomAD_genome_ASJ=0.2517;gnomAD_genome_EAS=0.2027;gnomAD_genome_FIN=0.3728;gnomAD_genome_NFE=0.3168;gnomAD_genome_OTH=0.3354;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . 1:181:0,71 1:204:0,101 . 1:188:0,100 . 1/1:225:0,225 1:231:0,129 . 1:245:0,136 . 1:215:0,121 1:219:0,103 . . . . 1:187:0,79 1:192:0,98 1:208:0,99 . 1:283:0,135 . 1:263:0,117 1:205:0,96 1:193:0,86 1:280:0,131 . . . 1:119:0,63 1/1:230:0,230 . 1:239:0,125 1:201:0,85 1:192:0,80 1/1:152:0,152 . . . 1:178:0,93 1 228476389 rs201716550 C T 200.00 . #_unique_end_positions=,48;#_unique_start_positions=,48;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AN=1;Amino_acid_change=,NP_001258152.2:p.Thr3809Met|_NP_001092093.2:p.Thr3380Met|_NP_443075.3:p.Thr3380Met;Amino_acid_change_in_longest_transcript=,NP_001258152.2:p.Thr3809Met;BaseQRankSum=,-0.47;Coding_region_change=,NM_001098623.2:c.10139C>T|_NM_001271223.2:c.11426C>T|_NM_052843.3:c.10139C>T;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.11426C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;Exact_match=,1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,93;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_052843.3|NM_001098623.2|NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5674|rna5673|rna5672;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;Read_count=,82;Read_coverage=,196;Read_direction_test_probability=,0.9994927900459804;Read_position_test_probability=,0.9924667312822426;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_052843.3|NM_001098623.2|NM_001271223.2;Reverse_read_coverage=,103;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=29;conservation_score=,0.001;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_052843.3|Genbank:NM_001098623.2|Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_1|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_2|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_052843.3|NM_001098623.2|NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon38:c.C10139T:p.T3380M,OBSCN:NM_052843:exon38:c.C10139T:p.T3380M,OBSCN:NM_001271223:exon43:c.C11426T:p.T3809M;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;1000g2015aug_all=0.000199681;avsnp147=rs201716550;Kaviar_AF=0.0001035;Kaviar_AC=16;Kaviar_AN=154602;ExAC_ALL=0.0001;ExAC_AFR=0.0001;ExAC_AMR=0.0002;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0001;ExAC_OTH=0.0011;ExAC_SAS=6.056e-05;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.007;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_pred=D;LRT_score=0.365;LRT_pred=U;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=3.125;MutationAssessor_pred=M;FATHMM_score=-0.65;FATHMM_pred=T;PROVEAN_score=-3.54;PROVEAN_pred=D;VEST3_score=0.261;CADD_raw=3.907;CADD_phred=23.5;DANN_score=0.979;fathmm-MKL_coding_score=0.192;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.472;MetaSVM_pred=T;MetaLR_score=0.516;MetaLR_pred=D;integrated_fitCons_score=0.646;integrated_confidence_value=0;GERP++_RS=-0.464;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.029;phastCons7way_vertebrate=0.969;phastCons20way_mammalian=0.003;SiPhy_29way_logOdds=6.508;GDI_full_10282015=.;dpsi_max_tissue=-0.0996;dpsi_zscore=-0.448;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0002;gnomAD_exome_AFR=6.539e-05;gnomAD_exome_AMR=0.0004;gnomAD_exome_ASJ=0.0001;gnomAD_exome_EAS=5.798e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0002;gnomAD_exome_OTH=0;gnomAD_exome_SAS=9.746e-05;gnomAD_genome_ALL=0.0001;gnomAD_genome_AFR=0.0002;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0001;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:176:0,72 . . . . . . . . . . . . 1 228480282 rs1150908 A G 193.41 . #_unique_end_positions=,26;#_unique_start_positions=,25;AC=56;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.8669;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7147;AN=56;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.3011|0.6989;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001098623.2:c.10662A>G|_NM_001271223.2:c.11949A>G|_NM_052843.3:c.10662A>G;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.11949A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7490;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6720;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,48;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,OBSCN:84033;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_052843.3|NM_001098623.2|NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5674|rna5673|rna5672;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;Non-synonymous=,No;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,228480282;RS_dbsnp_common_v150_hg19_refseq=,1150908;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,43;Read_coverage=,86;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.8927205894545172;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_052843.3|NM_001098623.2|NM_001271223.2;Reverse_read_coverage=,38;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4366;SF=0,1,2,3,4,5,6,7,8,10,11,12,13,14,15,16,18,19,20,21,22,23,24,25,26,27,29,31,32,33,34,35,36,37,38,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.254534|0.745466;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05010008030517053e000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.0;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_052843.3|Genbank:NM_001098623.2|Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_1|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_2|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_052843.3|NM_001098623.2|NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon40:c.A10662G:p.T3554T,OBSCN:NM_052843:exon40:c.A10662G:p.T3554T,OBSCN:NM_001271223:exon45:c.A11949G:p.T3983T;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.7438;esp6500siv2_ea=0.7022;esp6500siv2_all=0.7438;esp6500siv2_ea=0.7022;1000g2015aug_all=0.698882;avsnp147=rs1150908;Kaviar_AF=0.684137;Kaviar_AC=105769;Kaviar_AN=154602;ExAC_ALL=0.6946;ExAC_AFR=0.8268;ExAC_AMR=0.7487;ExAC_EAS=0.7309;ExAC_FIN=0.7722;ExAC_NFE=0.7029;ExAC_OTH=0.6533;ExAC_SAS=0.4970;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.1251;dpsi_zscore=1.594;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.6954;gnomAD_exome_AFR=0.8257;gnomAD_exome_AMR=0.7516;gnomAD_exome_ASJ=0.6408;gnomAD_exome_EAS=0.7292;gnomAD_exome_FIN=0.7705;gnomAD_exome_NFE=0.6999;gnomAD_exome_OTH=0.6860;gnomAD_exome_SAS=0.4987;gnomAD_genome_ALL=0.7525;gnomAD_genome_AFR=0.8236;gnomAD_genome_AMR=0.7554;gnomAD_genome_ASJ=0.6424;gnomAD_genome_EAS=0.7017;gnomAD_genome_FIN=0.7811;gnomAD_genome_NFE=0.7148;gnomAD_genome_OTH=0.7082;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:74:0,38 1/1:122:0,122 1/1:156:0,156 1:143:0,78 1/1:89:0,89 1/1:168:0,168 1:109:0,58 1/1:120:0,120 1:149:0,68 . 1:152:0,87 1/1:141:0,141 1:165:0,89 1/1:155:0,155 1:217:0,114 1:159:0,87 1:202:0,97 . 1/1:145:0,145 1:127:0,72 1/1:163:0,163 1/1:152:0,152 1/1:209:0,209 1:174:0,90 1/1:160:0,160 1:115:0,57 1/1:136:0,136 1:201:0,99 . 1:165:0,84 . 1/1:97:0,97 1/1:145:0,145 1:124:0,57 1:167:0,93 1/1:141:0,141 1/1:147:0,147 1/1:126:0,126 1:145:0,83 1:151:0,80 1:138:0,61 1:125:0,66 1 228480441 rs113015177 G A 200.00 . #_unique_end_positions=,43;#_unique_start_positions=,39;AC=2;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0310;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0072;AN=2;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.38;CAF_dbsnp_common_v150_hg19_refseq=,0.9904|0.009585;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001098623.2:c.10821G>A|_NM_001271223.2:c.12108G>A|_NM_052843.3:c.10821G>A;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.12108G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,93;GENEINFO_dbsnp_common_v150_hg19_refseq=,OBSCN:84033;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_052843.3|NM_001098623.2|NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5674|rna5673|rna5672;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;Non-synonymous=,No;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,228480441;RS_dbsnp_common_v150_hg19_refseq=,113015177;Read_count=,89;Read_coverage=,196;Read_direction_test_probability=,0.9564532755069498;Read_position_test_probability=,0.8545789235346557;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_052843.3|NM_001098623.2|NM_001271223.2;Reverse_read_coverage=,103;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;SF=4,33;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.980973|0.0190273;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050100080305040536000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.002;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_052843.3|Genbank:NM_001098623.2|Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_1|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_2|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_052843.3|NM_001098623.2|NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon40:c.G10821A:p.S3607S,OBSCN:NM_052843:exon40:c.G10821A:p.S3607S,OBSCN:NM_001271223:exon45:c.G12108A:p.S4036S;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0151;esp6500siv2_ea=0.0032;esp6500siv2_all=0.0151;esp6500siv2_ea=0.0032;1000g2015aug_all=0.00958466;avsnp147=rs113015177;Kaviar_AF=0.004877;Kaviar_AC=754;Kaviar_AN=154602;ExAC_ALL=0.0051;ExAC_AFR=0.0369;ExAC_AMR=0.0033;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0030;ExAC_OTH=0.0056;ExAC_SAS=0.0007;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.2656;dpsi_zscore=0.839;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0051;gnomAD_exome_AFR=0.0382;gnomAD_exome_AMR=0.0051;gnomAD_exome_ASJ=0.0304;gnomAD_exome_EAS=0;gnomAD_exome_FIN=4.484e-05;gnomAD_exome_NFE=0.0012;gnomAD_exome_OTH=0.0086;gnomAD_exome_SAS=0.0007;gnomAD_genome_ALL=0.0124;gnomAD_genome_AFR=0.0407;gnomAD_genome_AMR=0.0060;gnomAD_genome_ASJ=0.0265;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0009;gnomAD_genome_OTH=0.0031;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:DP:CLCAD2 . . . . 1:148:0,69 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:184:0,89 . . . . . . . . 1 228482010 rs449133 C T 193.87 . #_unique_end_positions=,50;#_unique_start_positions=,46;AC=43;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4720;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4179;AN=43;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.11;CAF_dbsnp_common_v150_hg19_refseq=,0.618|0.382;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001098623.2:c.11289C>T|_NM_001271223.2:c.12576C>T|_NM_052843.3:c.11289C>T;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.12576C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2470;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4821;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,95;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,OBSCN:84033;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_052843.3|NM_001098623.2|NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5674|rna5673|rna5672;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;Non-synonymous=,No;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,228482010;RS_dbsnp_common_v150_hg19_refseq=,449133;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,83;Read_coverage=,205;Read_direction_test_probability=,0.9685692567253515;Read_position_test_probability=,0.9285488761819287;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_052843.3|NM_001098623.2|NM_001271223.2;Reverse_read_coverage=,110;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2710;SF=1,2,3,5,6,7,8,10,11,12,13,14,16,18,19,20,21,22,23,24,25,26,27,29,31,32,34,35,36,37,38,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.550866|0.449134;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050100080305170537000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.427083;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0789474;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.325;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.490196;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.0;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_052843.3|Genbank:NM_001098623.2|Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_1|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_2|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_052843.3|NM_001098623.2|NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon42:c.C11289T:p.D3763D,OBSCN:NM_052843:exon42:c.C11289T:p.D3763D,OBSCN:NM_001271223:exon47:c.C12576T:p.D4192D;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.4681;esp6500siv2_ea=0.4953;esp6500siv2_all=0.4681;esp6500siv2_ea=0.4953;1000g2015aug_all=0.381989;avsnp147=rs449133;Kaviar_AF=0.430609;Kaviar_AC=66573;Kaviar_AN=154602;ExAC_ALL=0.4358;ExAC_AFR=0.4244;ExAC_AMR=0.3494;ExAC_EAS=0.2061;ExAC_FIN=0.5641;ExAC_NFE=0.4961;ExAC_OTH=0.4278;ExAC_SAS=0.3281;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.4158;dpsi_zscore=-1.680;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.4344;gnomAD_exome_AFR=0.4206;gnomAD_exome_AMR=0.3665;gnomAD_exome_ASJ=0.4076;gnomAD_exome_EAS=0.2030;gnomAD_exome_FIN=0.5609;gnomAD_exome_NFE=0.497;gnomAD_exome_OTH=0.4466;gnomAD_exome_SAS=0.3315;gnomAD_genome_ALL=0.4781;gnomAD_genome_AFR=0.4307;gnomAD_genome_AMR=0.3846;gnomAD_genome_ASJ=0.4073;gnomAD_genome_EAS=0.2066;gnomAD_genome_FIN=0.5630;gnomAD_genome_NFE=0.5212;gnomAD_genome_OTH=0.4867;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . 1:177:0,70 1:166:0,90 1:155:0,86 . 1:212:0,109 1:143:0,64 1/1:163:0,163 1:205:0,98 . 1:228:0,102 1/1:210:0,210 1:197:0,101 1/1:206:0,206 1:257:0,130 . 1:219:0,87 . 1/1:182:0,182 1:161:0,70 1/1:223:0,223 1:245:0,133 1:280:0,130 1:229:0,91 1/1:206:0,206 1:159:0,69 1/1:175:0,175 1:260:0,111 . 1:233:0,117 . 1:117:0,45 1/1:190:0,190 . 1:202:0,81 1:207:0,114 1/1:144:0,144 1/1:160:0,160 1:149:0,74 . 1:212:0,82 1:155:0,67 1 228482028 rs4653547 G C 200.00 . #_unique_end_positions=,54;#_unique_start_positions=,53;AC=13;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3139;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2795;AN=13;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.15;CAF_dbsnp_common_v150_hg19_refseq=,0.7875|0.2125;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001098623.2:c.11307G>C|_NM_001271223.2:c.12594G>C|_NM_052843.3:c.11307G>C;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.12594G>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1835;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1640;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,83;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,OBSCN:84033;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,C/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_052843.3|NM_001098623.2|NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5674|rna5673|rna5672;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;Non-synonymous=,No;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,228482028;RS_dbsnp_common_v150_hg19_refseq=,4653547;Read_count=,83;Read_coverage=,152;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9821157620181519;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_052843.3|NM_001098623.2|NM_001271223.2;Reverse_read_coverage=,69;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1074;SF=0,1,2,4,5,15,21,22,31,33,35,39;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.757487|0.242513;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05010008030517013e000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_052843.3|Genbank:NM_001098623.2|Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_1|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_2|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_052843.3|NM_001098623.2|NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon42:c.G11307C:p.L3769L,OBSCN:NM_052843:exon42:c.G11307C:p.L3769L,OBSCN:NM_001271223:exon47:c.G12594C:p.L4198L;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.2178;esp6500siv2_ea=0.1766;esp6500siv2_all=0.2178;esp6500siv2_ea=0.1766;1000g2015aug_all=0.21246;avsnp147=rs4653547;Kaviar_AF=0.196634;Kaviar_AC=30400;Kaviar_AN=154602;ExAC_ALL=0.2036;ExAC_AFR=0.3147;ExAC_AMR=0.3888;ExAC_EAS=0.1818;ExAC_FIN=0.1521;ExAC_NFE=0.1837;ExAC_OTH=0.1856;ExAC_SAS=0.1205;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.8007;dpsi_zscore=-1.344;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2084;gnomAD_exome_AFR=0.3198;gnomAD_exome_AMR=0.3751;gnomAD_exome_ASJ=0.2199;gnomAD_exome_EAS=0.1828;gnomAD_exome_FIN=0.1537;gnomAD_exome_NFE=0.1808;gnomAD_exome_OTH=0.2053;gnomAD_exome_SAS=0.1222;gnomAD_genome_ALL=0.2153;gnomAD_genome_AFR=0.3124;gnomAD_genome_AMR=0.3493;gnomAD_genome_ASJ=0.2119;gnomAD_genome_EAS=0.1776;gnomAD_genome_FIN=0.1647;gnomAD_genome_NFE=0.1697;gnomAD_genome_OTH=0.1796;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:124:0,65 1:164:0,104 1:146:0,72 . 1/1:126:0,126 1:200:0,95 . . . . . . . . . 1:173:0,85 . . . . . 1:238:0,112 1:255:0,142 . . . . . . . . 1:108:0,67 . 1:176:0,81 . 1:195:0,86 . . . 1:230:0,96 . . 1 228482569 rs56122236 G A 200.00 . #_unique_end_positions=,31;#_unique_start_positions=,29;AC=7;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0274;AN=7;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.13;CAF_dbsnp_common_v150_hg19_refseq=,0.9872|0.01278;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001098623.2:c.11484G>A|_NM_001271223.2:c.12771G>A|_NM_052843.3:c.11484G>A;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.12771G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0447;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,60;GENEINFO_dbsnp_common_v150_hg19_refseq=,OBSCN:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_052843.3|NM_001098623.2|NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5674|rna5673|rna5672;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;Non-synonymous=,No;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,228482569;RS_dbsnp_common_v150_hg19_refseq=,56122236;Read_count=,55;Read_coverage=,102;Read_direction_test_probability=,0.4984887940241679;Read_position_test_probability=,0.8040132322892126;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_052843.3|NM_001098623.2|NM_001271223.2;Reverse_read_coverage=,42;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=0,6,9,10,17,30,33;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.979839|0.0201607;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050000080305140036000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.0;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_052843.3|Genbank:NM_001098623.2|Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_1|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_2|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_052843.3|NM_001098623.2|NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon43:c.G11484A:p.A3828A,OBSCN:NM_052843:exon43:c.G11484A:p.A3828A,OBSCN:NM_001271223:exon48:c.G12771A:p.A4257A;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0236;esp6500siv2_ea=0.0324;esp6500siv2_all=0.0236;esp6500siv2_ea=0.0324;1000g2015aug_all=0.0127796;avsnp147=rs56122236;Kaviar_AF=0.0214874;Kaviar_AC=3322;Kaviar_AN=154602;ExAC_ALL=0.0211;ExAC_AFR=0.0041;ExAC_AMR=0.0200;ExAC_EAS=0;ExAC_FIN=0.0091;ExAC_NFE=0.0324;ExAC_OTH=0.02;ExAC_SAS=0.0019;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.5112;dpsi_zscore=-1.721;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0212;gnomAD_exome_AFR=0.0046;gnomAD_exome_AMR=0.0228;gnomAD_exome_ASJ=0.0174;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0098;gnomAD_exome_NFE=0.0338;gnomAD_exome_OTH=0.0265;gnomAD_exome_SAS=0.0023;gnomAD_genome_ALL=0.0211;gnomAD_genome_AFR=0.0071;gnomAD_genome_AMR=0.0191;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0103;gnomAD_genome_NFE=0.0346;gnomAD_genome_OTH=0.0173;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:83:0,46 . . . . . 1:115:0,52 . . 1:132:0,57 1:202:0,81 . . . . . . 1:155:0,71 . . . . . . . . . . . . 1:157:0,83 . . 1:162:0,79 . . . . . . . . 1 228486404 rs56021350 C T 200.00 . #_unique_end_positions=,28;#_unique_start_positions=,24;AC=12;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1982;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2378;AN=12;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001258152.2:p.Thr4399Met;Amino_acid_change_in_longest_transcript=,NP_001258152.2:p.Thr4399Met;BaseQRankSum=,0.2;CAF_dbsnp_common_v150_hg19_refseq=,0.8341|0.1659;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001098623.2:c.11659+3660C>T|_NM_001271223.2:c.13196C>T|_NM_052843.3:c.11659+3660C>T;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.13196C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1518;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1581;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,29;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,OBSCN:84033;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5672;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,228486404;RS_dbsnp_common_v150_hg19_refseq=,56021350;Read_count=,44;Read_coverage=,90;Read_direction_test_probability=,0.9044569705010181;Read_position_test_probability=,0.9495753926174249;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001271223.2;Reverse_read_coverage=,61;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0941;SF=0,1,2,4,5,15,21,22,31,33,39;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.801758|0.198242;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050100080a0517053e000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.0;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001271223:exon49:c.C13196T:p.T4399M;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.1943;esp6500siv2_ea=0.1788;esp6500siv2_all=0.1943;esp6500siv2_ea=0.1788;1000g2015aug_all=0.165935;avsnp147=rs56021350;Kaviar_AF=0.17633;Kaviar_AC=27261;Kaviar_AN=154602;ExAC_ALL=0.1835;ExAC_AFR=0.2267;ExAC_AMR=0.3173;ExAC_EAS=0.1519;ExAC_FIN=0.1495;ExAC_NFE=0.1816;ExAC_OTH=0.1846;ExAC_SAS=0.1040;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=-0.36;FATHMM_pred=T;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=0.271;CADD_raw=0.548;CADD_phred=7.790;DANN_score=0.303;fathmm-MKL_coding_score=0.032;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.017;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.635;integrated_confidence_value=0;GERP++_RS=-4.67;phyloP7way_vertebrate=-0.786;phyloP20way_mammalian=-2.709;phastCons7way_vertebrate=0.000;phastCons20way_mammalian=0.000;SiPhy_29way_logOdds=12.656;GDI_full_10282015=.;dpsi_max_tissue=-0.3856;dpsi_zscore=-0.966;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1872;gnomAD_exome_AFR=0.2307;gnomAD_exome_AMR=0.3110;gnomAD_exome_ASJ=0.2109;gnomAD_exome_EAS=0.1522;gnomAD_exome_FIN=0.1541;gnomAD_exome_NFE=0.1769;gnomAD_exome_OTH=0.1859;gnomAD_exome_SAS=0.1046;gnomAD_genome_ALL=0.1862;gnomAD_genome_AFR=0.2298;gnomAD_genome_AMR=0.2938;gnomAD_genome_ASJ=0.1821;gnomAD_genome_EAS=0.1380;gnomAD_genome_FIN=0.1615;gnomAD_genome_NFE=0.1673;gnomAD_genome_OTH=0.1663;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:75:0,38 1:121:0,54 1:104:0,47 . 1/1:98:0,98 1:122:0,64 . . . . . . . . . 1:132:0,62 . . . . . 1:151:0,66 1:195:0,81 . . . . . . . . 1:87:0,39 . 1:111:0,54 . . . . . 1:114:0,59 . . 1 228487800 . G A 200.00 . #_unique_end_positions=,57;#_unique_start_positions=,49;AC=1;AN=1;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.01;Coding_region_change=,NM_001098623.2:c.11659+5056G>A|_NM_001271223.2:c.13692G>A|_NM_052843.3:c.11659+5056G>A;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.13692G>A;Forward_read_coverage=,68;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5672;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;Non-synonymous=,No;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;Read_count=,93;Read_coverage=,189;Read_direction_test_probability=,0.9999958360284416;Read_position_test_probability=,0.9952432486721808;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001271223.2;Reverse_read_coverage=,121;SF=26;conservation_score=,0.175;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001271223:exon51:c.G13692A:p.S4564S;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs568301376;Kaviar_AF=0.0001358;Kaviar_AC=21;Kaviar_AN=154602;ExAC_ALL=0.0002;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0.0020;ExAC_NFE=4.687e-05;ExAC_OTH=0;ExAC_SAS=0.0003;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.1691;dpsi_zscore=-1.564;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0002;gnomAD_exome_AFR=0;gnomAD_exome_AMR=2.982e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0016;gnomAD_exome_NFE=4.549e-05;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=0.0002;gnomAD_genome_ALL=0.0003;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0020;gnomAD_genome_NFE=6.67e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . 1:175:0,86 . . . . . . . . . . . . . . . 1 228491633 rs11584418 G A 200.00 . #_unique_end_positions=,32;#_unique_start_positions=,29;AC=2;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0416;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0605;AN=2;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001258152.2:p.Val4666Ile;Amino_acid_change_in_longest_transcript=,NP_001258152.2:p.Val4666Ile;BaseQRankSum=,-0.37;CAF_dbsnp_common_v150_hg19_refseq=,0.9475|0.05252;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001098623.2:c.11660-2440G>A|_NM_001271223.2:c.13996G>A|_NM_052843.3:c.11660-2440G>A;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.13996G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0962;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0328;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,35;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,OBSCN:84033;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5672;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,228491633;RS_dbsnp_common_v150_hg19_refseq=,11584418;Read_count=,43;Read_coverage=,78;Read_direction_test_probability=,0.6759263964265323;Read_position_test_probability=,0.812167643788581;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001271223.2;Reverse_read_coverage=,43;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0368;SF=4,33;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.953153|0.0468471;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050100080a05150537000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0344828;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0795455;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0581395;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0431034;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.004;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001271223:exon52:c.G13996A:p.V4666I;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0488;esp6500siv2_ea=0.0397;esp6500siv2_all=0.0488;esp6500siv2_ea=0.0397;1000g2015aug_all=0.052516;avsnp147=rs11584418;Kaviar_AF=0.0433759;Kaviar_AC=6706;Kaviar_AN=154602;ExAC_ALL=0.0452;ExAC_AFR=0.0548;ExAC_AMR=0.0579;ExAC_EAS=0.0817;ExAC_FIN=0.0500;ExAC_NFE=0.0391;ExAC_OTH=0.0420;ExAC_SAS=0.0339;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=2.59;FATHMM_pred=T;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=0.082;CADD_raw=0.427;CADD_phred=6.844;DANN_score=0.548;fathmm-MKL_coding_score=0.350;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.063;MetaSVM_pred=T;MetaLR_score=0.001;MetaLR_pred=T;integrated_fitCons_score=0.635;integrated_confidence_value=0;GERP++_RS=2.99;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.953;phastCons7way_vertebrate=0.573;phastCons20way_mammalian=0.303;SiPhy_29way_logOdds=6.702;GDI_full_10282015=.;dpsi_max_tissue=1.4209;dpsi_zscore=1.743;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0468;gnomAD_exome_AFR=0.0565;gnomAD_exome_AMR=0.0588;gnomAD_exome_ASJ=0.0618;gnomAD_exome_EAS=0.0851;gnomAD_exome_FIN=0.0524;gnomAD_exome_NFE=0.0372;gnomAD_exome_OTH=0.0486;gnomAD_exome_SAS=0.0329;gnomAD_genome_ALL=0.0485;gnomAD_genome_AFR=0.0580;gnomAD_genome_AMR=0.0646;gnomAD_genome_ASJ=0.0464;gnomAD_genome_EAS=0.0767;gnomAD_genome_FIN=0.0570;gnomAD_genome_NFE=0.0372;gnomAD_genome_OTH=0.0468;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . 1:72:0,39 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:97:0,46 . . . . . . . . 1 228492044 rs1150910 G A 197.46 . #_unique_end_positions=,34;#_unique_start_positions=,33;AC=43;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4221;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4121;AN=43;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.07;CAF_dbsnp_common_v150_hg19_refseq=,0.6308|0.3692;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001098623.2:c.11660-2029G>A|_NM_001271223.2:c.14043G>A|_NM_052843.3:c.11660-2029G>A;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.14043G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2490;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4861;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,79;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,OBSCN:84033;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5672;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;Non-synonymous=,No;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,228492044;RS_dbsnp_common_v150_hg19_refseq=,1150910;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,49;Read_coverage=,127;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.6639854160117263;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001271223.2;Reverse_read_coverage=,48;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2710;SF=1,2,3,5,6,7,8,10,11,12,13,14,16,18,19,20,21,22,23,24,25,26,27,29,31,32,34,35,36,37,38,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.570717|0.429283;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05012808030517053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.428571;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.40708;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.231707;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.232143;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.352273;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.104651;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.317647;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.35;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.262238;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.443182;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.441964;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.941;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001271223:exon53:c.G14043A:p.E4681E;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.4536;esp6500siv2_ea=0.4905;esp6500siv2_all=0.4536;esp6500siv2_ea=0.4905;1000g2015aug_all=0.369209;avsnp147=rs1150910;Kaviar_AF=0.427582;Kaviar_AC=66105;Kaviar_AN=154602;ExAC_ALL=0.4336;ExAC_AFR=0.3862;ExAC_AMR=0.3476;ExAC_EAS=0.2052;ExAC_FIN=0.5646;ExAC_NFE=0.4986;ExAC_OTH=0.4243;ExAC_SAS=0.3280;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.3657;dpsi_zscore=0.979;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.4307;gnomAD_exome_AFR=0.3775;gnomAD_exome_AMR=0.3626;gnomAD_exome_ASJ=0.4094;gnomAD_exome_EAS=0.2021;gnomAD_exome_FIN=0.5612;gnomAD_exome_NFE=0.4974;gnomAD_exome_OTH=0.4451;gnomAD_exome_SAS=0.3284;gnomAD_genome_ALL=0.4656;gnomAD_genome_AFR=0.3856;gnomAD_genome_AMR=0.3807;gnomAD_genome_ASJ=0.4172;gnomAD_genome_EAS=0.2051;gnomAD_genome_FIN=0.5635;gnomAD_genome_NFE=0.5219;gnomAD_genome_OTH=0.4867;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . 1:112:0,45 1:147:0,72 1:108:0,55 . 1:135:0,70 1:105:0,55 1/1:127:0,127 1:160:0,79 . 1:174:0,66 1/1:119:0,119 1:148:0,75 1/1:156:0,156 1:201:0,93 . 1:139:0,79 . 1/1:113:0,113 1:98:0,48 1/1:150:0,150 1:196:0,104 1:204:0,79 1:178:0,87 1/1:136:0,136 1:119:0,61 1/1:146:0,146 1:189:0,87 . 1:180:0,87 . 1:115:0,55 1/1:126:0,126 . 1:142:0,72 1:148:0,65 1/1:140:0,140 1/1:111:0,110 1:110:0,53 . 1:166:0,78 1:127:0,72 1 228494144 . T G 200.00 . #_unique_end_positions=,46;#_unique_start_positions=,45;AC=1;AN=1;Amino_acid_change=,NP_001258152.2:p.Cys4868Gly|_NP_001092093.2:p.Cys3911Gly|_NP_443075.3:p.Cys3911Gly;Amino_acid_change_in_longest_transcript=,NP_001258152.2:p.Cys4868Gly;BaseQRankSum=,-0.25;Coding_region_change=,NM_001098623.2:c.11731T>G|_NM_001271223.2:c.14602T>G|_NM_052843.3:c.11731T>G;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.14602T>G;Forward_read_coverage=,115;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,G/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_052843.3|NM_001098623.2|NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5674|rna5673|rna5672;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;Read_count=,75;Read_coverage=,188;Read_direction_test_probability=,0.9543712343497266;Read_position_test_probability=,0.9785904261285697;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_052843.3|NM_001098623.2|NM_001271223.2;Reverse_read_coverage=,73;SF=25;conservation_score=,0.162;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_052843.3|Genbank:NM_001098623.2|Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_1|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_2|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_052843.3|NM_001098623.2|NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon44:c.T11731G:p.C3911G,OBSCN:NM_052843:exon44:c.T11731G:p.C3911G,OBSCN:NM_001271223:exon55:c.T14602G:p.C4868G;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0006;esp6500siv2_ea=0.0006;esp6500siv2_all=0.0006;esp6500siv2_ea=0.0006;1000g2015aug_all=.;avsnp147=rs201781739;Kaviar_AF=0.0004463;Kaviar_AC=69;Kaviar_AN=154602;ExAC_ALL=0.0005;ExAC_AFR=0.0004;ExAC_AMR=9.468e-05;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0008;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.019;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=4.03;MutationAssessor_pred=H;FATHMM_score=2.23;FATHMM_pred=T;PROVEAN_score=-8.43;PROVEAN_pred=D;VEST3_score=0.974;CADD_raw=3.953;CADD_phred=23.6;DANN_score=0.828;fathmm-MKL_coding_score=0.957;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.500;MetaSVM_pred=T;MetaLR_score=0.196;MetaLR_pred=T;integrated_fitCons_score=0.635;integrated_confidence_value=0;GERP++_RS=4.76;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=1.061;phastCons7way_vertebrate=0.800;phastCons20way_mammalian=0.014;SiPhy_29way_logOdds=14.430;GDI_full_10282015=.;dpsi_max_tissue=-1.5805;dpsi_zscore=-1.750;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0004;gnomAD_exome_AFR=0.0002;gnomAD_exome_AMR=0.0001;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0001;gnomAD_exome_NFE=0.0008;gnomAD_exome_OTH=0.0004;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0005;gnomAD_genome_AFR=0.0003;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0009;gnomAD_genome_NFE=0.0007;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . 1:171:0,71 . . . . . . . . . . . . . . . . 1 228494696 rs4653939 G A 196.63 . #_unique_end_positions=,33;#_unique_start_positions=,29;AC=13;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3714;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2925;AN=13;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.05;CAF_dbsnp_common_v150_hg19_refseq=,0.6915|0.3085;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001098623.2:c.12021G>A|_NM_001271223.2:c.14892G>A|_NM_052843.3:c.12021G>A;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.14892G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4970;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1869;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,77;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,OBSCN:84033;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_052843.3|NM_001098623.2|NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5674|rna5673|rna5672;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;Non-synonymous=,No;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,228494696;RS_dbsnp_common_v150_hg19_refseq=,4653939;Read_count=,66;Read_coverage=,149;Read_direction_test_probability=,0.589888853590316;Read_position_test_probability=,0.2920675692469519;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_052843.3|NM_001098623.2|NM_001271223.2;Reverse_read_coverage=,72;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1656;SF=0,1,2,4,5,15,21,22,31,33,35,39;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.713525|0.286475;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05010000030517053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.336735;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.220721;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.426829;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.423529;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.132184;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.546512;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.47093;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.421348;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.295918;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.374126;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.176136;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.339286;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.0;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_052843.3|Genbank:NM_001098623.2|Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_1|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_2|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_052843.3|NM_001098623.2|NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon45:c.G12021A:p.A4007A,OBSCN:NM_052843:exon45:c.G12021A:p.A4007A,OBSCN:NM_001271223:exon56:c.G14892A:p.A4964A;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.2547;esp6500siv2_ea=0.1945;esp6500siv2_all=0.2547;esp6500siv2_ea=0.1945;1000g2015aug_all=0.308506;avsnp147=rs4653939;Kaviar_AF=0.239111;Kaviar_AC=36967;Kaviar_AN=154602;ExAC_ALL=0.3186;ExAC_AFR=0.4404;ExAC_AMR=0.4894;ExAC_EAS=0.5720;ExAC_FIN=0.3068;ExAC_NFE=0.2636;ExAC_OTH=0.2964;ExAC_SAS=0.2037;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0650;dpsi_zscore=-0.328;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2603;gnomAD_exome_AFR=0.3875;gnomAD_exome_AMR=0.3859;gnomAD_exome_ASJ=0.2307;gnomAD_exome_EAS=0.5271;gnomAD_exome_FIN=0.2099;gnomAD_exome_NFE=0.2031;gnomAD_exome_OTH=0.2398;gnomAD_exome_SAS=0.1673;gnomAD_genome_ALL=0.2681;gnomAD_genome_AFR=0.3731;gnomAD_genome_AMR=0.3687;gnomAD_genome_ASJ=0.2252;gnomAD_genome_EAS=0.5;gnomAD_genome_FIN=0.2176;gnomAD_genome_NFE=0.1925;gnomAD_genome_OTH=0.2133;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:128:0,53 1:225:0,106 1:213:0,98 . 1/1:144:0,144 1:236:0,118 . . . . . . . . . 1:246:0,130 . . . . . 1:196:0,107 1:308:0,170 . . . . . . . . 1:101:0,57 . 1:194:0,87 . 1:198:0,93 . . . 1:260:0,130 . . 1 228494790 rs435776 G A 197.55 . #_unique_end_positions=,74;#_unique_start_positions=,64;AC=42;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0605;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3775;AN=42;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_443075.3:p.Gly4039Arg|_NP_001092093.2:p.Gly4039Arg|_NP_001258152.2:p.Gly4996Arg;Amino_acid_change_in_longest_transcript=,NP_001258152.2:p.Gly4996Arg;BaseQRankSum=,-0.33;CAF_dbsnp_common_v150_hg19_refseq=,0.7314|0.2686;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001098623.2:c.12115G>A|_NM_001271223.2:c.14986G>A|_NM_052843.3:c.12115G>A;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.14986G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2490;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4841;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,153;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,OBSCN:84033;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_052843.3|NM_001098623.2|NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5674|rna5673|rna5672;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;MTP_dbsnp_common_v150_hg19_refseq=,MTP;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,228494790;RS_dbsnp_common_v150_hg19_refseq=,435776;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,135;Read_coverage=,277;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9987416767875708;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_052843.3|NM_001098623.2|NM_001271223.2;Reverse_read_coverage=,124;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2710;SF=1,2,3,5,6,7,8,10,11,12,13,14,16,18,19,20,21,22,23,24,25,26,27,29,31,32,34,35,36,37,38,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.694464|0.305536;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128000a0515053f020100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.173469;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.40625;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.231707;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.244048;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.346591;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.104651;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.317647;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.0280899;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.41;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.0699301;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.443182;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0491071;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.0;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_052843.3|Genbank:NM_001098623.2|Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_1|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_2|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_052843.3|NM_001098623.2|NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon45:c.G12115A:p.G4039R,OBSCN:NM_052843:exon45:c.G12115A:p.G4039R,OBSCN:NM_001271223:exon56:c.G14986A:p.G4996R;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.3663;esp6500siv2_ea=0.4939;esp6500siv2_all=0.3663;esp6500siv2_ea=0.4939;1000g2015aug_all=0.26857;avsnp147=rs435776;Kaviar_AF=0.393889;Kaviar_AC=60896;Kaviar_AN=154602;ExAC_ALL=0.4091;ExAC_AFR=0.1020;ExAC_AMR=0.3351;ExAC_EAS=0.2060;ExAC_FIN=0.5709;ExAC_NFE=0.4976;ExAC_OTH=0.4180;ExAC_SAS=0.3271;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.558;SIFT_pred=T;Polyphen2_HDIV_score=0.811;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.187;Polyphen2_HVAR_pred=B;LRT_score=0.134;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=1.12;MutationAssessor_pred=L;FATHMM_score=3.58;FATHMM_pred=T;PROVEAN_score=-1.94;PROVEAN_pred=N;VEST3_score=0.233;CADD_raw=2.944;CADD_phred=22.0;DANN_score=0.684;fathmm-MKL_coding_score=0.101;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.983;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.635;integrated_confidence_value=0;GERP++_RS=0.336;phyloP7way_vertebrate=-0.011;phyloP20way_mammalian=-0.239;phastCons7way_vertebrate=0.003;phastCons20way_mammalian=0.000;SiPhy_29way_logOdds=7.364;GDI_full_10282015=.;dpsi_max_tissue=-0.3131;dpsi_zscore=-0.872;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.4111;gnomAD_exome_AFR=0.0995;gnomAD_exome_AMR=0.3482;gnomAD_exome_ASJ=0.4052;gnomAD_exome_EAS=0.2026;gnomAD_exome_FIN=0.5616;gnomAD_exome_NFE=0.4972;gnomAD_exome_OTH=0.4354;gnomAD_exome_SAS=0.3281;gnomAD_genome_ALL=0.3878;gnomAD_genome_AFR=0.1142;gnomAD_genome_AMR=0.3684;gnomAD_genome_ASJ=0.4139;gnomAD_genome_EAS=0.2033;gnomAD_genome_FIN=0.5633;gnomAD_genome_NFE=0.5210;gnomAD_genome_OTH=0.4744;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . 1:246:0,123 1:239:0,115 1:206:0,91 . 1:259:0,126 1:207:0,99 1/1:239:0,239 1:267:0,133 . 1:266:0,121 1/1:236:0,236 1:277:0,142 1/1:243:0,243 1:387:0,181 . 1:236:0,109 . 1/1:212:0,212 1:237:0,114 1/1:229:0,229 1:224:0,118 1:307:0,129 1:300:0,145 1/1:267:0,267 1:230:0,123 1/1:235:0,235 1:324:0,169 . 1:314:0,139 . 1:147:0,62 1/1:233:0,233 . 1:262:0,123 1:247:0,137 1/1:236:0,236 1:186:0,98 1:207:0,99 . 1:229:0,107 1:213:0,105 1 228495222 . C T 200.00 . #_unique_end_positions=,68;#_unique_start_positions=,54;AC=1;AN=1;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.23;Coding_region_change=,NM_001098623.2:c.12456C>T|_NM_001271223.2:c.15327C>T|_NM_052843.3:c.12456C>T;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.15327C>T;Forward_read_coverage=,60;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_052843.3|NM_001098623.2|NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5674|rna5673|rna5672;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;Non-synonymous=,No;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;Read_count=,183;Read_coverage=,334;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.7550577522652336;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_052843.3|NM_001098623.2|NM_001271223.2;Reverse_read_coverage=,274;SF=28;conservation_score=,0.97;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_052843.3|Genbank:NM_001098623.2|Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_1|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_2|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_052843.3|NM_001098623.2|NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon46:c.C12456T:p.L4152L,OBSCN:NM_052843:exon46:c.C12456T:p.L4152L,OBSCN:NM_001271223:exon57:c.C15327T:p.L5109L;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.4719;dpsi_zscore=-1.063;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:310:0,170 . . . . . . . . . . . . . 1 228496014 rs876180 G A 200.00 . #_unique_end_positions=,31;#_unique_start_positions=,33;AC=13;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3200;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2781;AN=13;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.7869|0.2131;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001098623.2:c.12669G>A|_NM_001271223.2:c.15540G>A|_NM_052843.3:c.12669G>A;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.15540G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1825;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1610;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,60;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,OBSCN:84033;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_052843.3|NM_001098623.2|NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5674|rna5673|rna5672;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;Non-synonymous=,No;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,228496014;RS_dbsnp_common_v150_hg19_refseq=,876180;Read_count=,56;Read_coverage=,111;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.7469011353785227;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_052843.3|NM_001098623.2|NM_001271223.2;Reverse_read_coverage=,51;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1074;SF=0,1,2,4,5,15,21,22,31,33,35,39;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.753503|0.246497;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05010008030517053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.316327;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.202703;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.146341;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.123529;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.091954;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.151163;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.176471;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.359551;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.32;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.293706;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.149425;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.308036;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.0;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_052843.3|Genbank:NM_001098623.2|Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_1|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_2|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_052843.3|NM_001098623.2|NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon47:c.G12669A:p.T4223T,OBSCN:NM_052843:exon47:c.G12669A:p.T4223T,OBSCN:NM_001271223:exon58:c.G15540A:p.T5180T;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.2246;esp6500siv2_ea=0.1772;esp6500siv2_all=0.2246;esp6500siv2_ea=0.1772;1000g2015aug_all=0.213059;avsnp147=rs876180;Kaviar_AF=0.192514;Kaviar_AC=29763;Kaviar_AN=154602;ExAC_ALL=0.2387;ExAC_AFR=0.3643;ExAC_AMR=0.4388;ExAC_EAS=0.2186;ExAC_FIN=0.2009;ExAC_NFE=0.2152;ExAC_OTH=0.2222;ExAC_SAS=0.1391;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.7095;dpsi_zscore=-1.277;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2100;gnomAD_exome_AFR=0.3347;gnomAD_exome_AMR=0.3759;gnomAD_exome_ASJ=0.2181;gnomAD_exome_EAS=0.1838;gnomAD_exome_FIN=0.1540;gnomAD_exome_NFE=0.1819;gnomAD_exome_OTH=0.2036;gnomAD_exome_SAS=0.1226;gnomAD_genome_ALL=0.2187;gnomAD_genome_AFR=0.3239;gnomAD_genome_AMR=0.3508;gnomAD_genome_ASJ=0.2020;gnomAD_genome_EAS=0.1766;gnomAD_genome_FIN=0.1640;gnomAD_genome_NFE=0.1705;gnomAD_genome_OTH=0.1772;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:94:0,50 1:185:0,90 1:182:0,87 . 1/1:148:0,148 1:197:0,74 . . . . . . . . . 1:229:0,122 . . . . . 1:212:0,98 1:245:0,114 . . . . . . . . 1:118:0,59 . 1:174:0,82 . 1:183:0,97 . . . 1:214:0,104 . . 1 228496066 rs55704206 G T 200.00 . #_unique_end_positions=,26;#_unique_start_positions=,26;AC=2;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0030;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0086;AN=2;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_443075.3:p.Ala4241Ser|_NP_001258152.2:p.Ala5198Ser|_NP_001092093.2:p.Ala4241Ser;Amino_acid_change_in_longest_transcript=,NP_001258152.2:p.Ala5198Ser;BaseQRankSum=,0.2;CAF_dbsnp_common_v150_hg19_refseq=,0.9936|0.00639;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001098623.2:c.12721G>T|_NM_001271223.2:c.15592G>T|_NM_052843.3:c.12721G>T;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.15592G>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0179;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,37;GENEINFO_dbsnp_common_v150_hg19_refseq=,OBSCN:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,G/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_052843.3|NM_001098623.2|NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5674|rna5673|rna5672;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,228496066;RS_dbsnp_common_v150_hg19_refseq=,55704206;Read_count=,47;Read_coverage=,94;Read_direction_test_probability=,0.9997222607988971;Read_position_test_probability=,0.9320536893545797;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_052843.3|NM_001098623.2|NM_001271223.2;Reverse_read_coverage=,57;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0041;SF=0,5;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.979461|0.0205385;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050000080a0504043e000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.998;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_052843.3|Genbank:NM_001098623.2|Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_1|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_2|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_052843.3|NM_001098623.2|NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon47:c.G12721T:p.A4241S,OBSCN:NM_052843:exon47:c.G12721T:p.A4241S,OBSCN:NM_001271223:exon58:c.G15592T:p.A5198S;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0234;esp6500siv2_ea=0.0313;esp6500siv2_all=0.0234;esp6500siv2_ea=0.0313;1000g2015aug_all=0.00638978;avsnp147=rs55704206;Kaviar_AF=0.0221343;Kaviar_AC=3422;Kaviar_AN=154602;ExAC_ALL=0.0403;ExAC_AFR=0.0081;ExAC_AMR=0.0115;ExAC_EAS=0;ExAC_FIN=0.0720;ExAC_NFE=0.0628;ExAC_OTH=0.0321;ExAC_SAS=0.0063;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.073;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=2.91;MutationAssessor_pred=M;FATHMM_score=3.34;FATHMM_pred=T;PROVEAN_score=-2.37;PROVEAN_pred=N;VEST3_score=0.469;CADD_raw=4.677;CADD_phred=24.5;DANN_score=0.994;fathmm-MKL_coding_score=0.984;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.195;MetaSVM_pred=T;MetaLR_score=0.031;MetaLR_pred=T;integrated_fitCons_score=0.660;integrated_confidence_value=0;GERP++_RS=6.04;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.114;phastCons20way_mammalian=0.613;SiPhy_29way_logOdds=20.190;GDI_full_10282015=.;dpsi_max_tissue=0.4748;dpsi_zscore=1.107;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0249;gnomAD_exome_AFR=0.0057;gnomAD_exome_AMR=0.0082;gnomAD_exome_ASJ=0.0077;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0399;gnomAD_exome_NFE=0.0418;gnomAD_exome_OTH=0.0246;gnomAD_exome_SAS=0.0047;gnomAD_genome_ALL=0.0295;gnomAD_genome_AFR=0.0064;gnomAD_genome_AMR=0.0155;gnomAD_genome_ASJ=0.01;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0473;gnomAD_genome_NFE=0.0431;gnomAD_genome_OTH=0.0305;Whole_Blood=Whole_Blood::0.0392954::0.341524;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:82:0,43 . . . . 1:169:0,61 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 228503567 rs532984 G A 200.00 . #_unique_end_positions=,47;#_unique_start_positions=,43;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1392;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0130;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.26;CAF_dbsnp_common_v150_hg19_refseq=,0.9613|0.03874;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001098623.2:c.13032G>A|_NM_001271223.2:c.15903G>A|_NM_052843.3:c.13032G>A;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.15903G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,126;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,OBSCN:84033;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_052843.3|NM_001098623.2|NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5674|rna5673|rna5672;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;Non-synonymous=,No;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,228503567;RS_dbsnp_common_v150_hg19_refseq=,532984;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,87;Read_coverage=,178;Read_direction_test_probability=,0.996892264037837;Read_position_test_probability=,0.9244792166813882;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_052843.3|NM_001098623.2|NM_001271223.2;Reverse_read_coverage=,52;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=37;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.953909|0.0460915;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05010000030515053e000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.444;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_052843.3|Genbank:NM_001098623.2|Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_1|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_2|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_052843.3|NM_001098623.2|NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon50:c.G13032A:p.R4344R,OBSCN:NM_052843:exon50:c.G13032A:p.R4344R,OBSCN:NM_001271223:exon61:c.G15903A:p.R5301R;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0283;esp6500siv2_ea=0.0005;esp6500siv2_all=0.0283;esp6500siv2_ea=0.0005;1000g2015aug_all=0.038738;avsnp147=rs532984;Kaviar_AF=0.0088485;Kaviar_AC=1368;Kaviar_AN=154602;ExAC_ALL=0.0105;ExAC_AFR=0.1250;ExAC_AMR=0.0072;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0003;ExAC_OTH=0.0019;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0702;dpsi_zscore=0.382;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0072;gnomAD_exome_AFR=0.1041;gnomAD_exome_AMR=0.0067;gnomAD_exome_ASJ=0.0007;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0002;gnomAD_exome_OTH=0.0042;gnomAD_exome_SAS=3.498e-05;gnomAD_genome_ALL=0.0279;gnomAD_genome_AFR=0.0975;gnomAD_genome_AMR=0.0036;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0004;gnomAD_genome_OTH=0.0041;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:172:0,84 . . . . 1 228503677 rs1150912 A G 193.45 . #_unique_end_positions=,57;#_unique_start_positions=,53;AC=55;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.8722;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7147;AN=55;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_443075.3:p.His4381Arg|_NP_001092093.2:p.His4381Arg|_NP_001258152.2:p.His5338Arg;Amino_acid_change_in_longest_transcript=,NP_001258152.2:p.His5338Arg;BaseQRankSum=,0.13;CAF_dbsnp_common_v150_hg19_refseq=,0.2991|0.7009;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001098623.2:c.13142A>G|_NM_001271223.2:c.16013A>G|_NM_052843.3:c.13142A>G;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.16013A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7480;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6740;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,121;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,OBSCN:84033;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_052843.3|NM_001098623.2|NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5674|rna5673|rna5672;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,228503677;RS_dbsnp_common_v150_hg19_refseq=,1150912;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,108;Read_coverage=,212;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.8576170591818861;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_052843.3|NM_001098623.2|NM_001271223.2;Reverse_read_coverage=,91;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4387;SF=0,1,2,3,4,5,6,7,8,10,11,12,13,14,15,16,18,19,20,21,22,23,24,25,26,27,29,31,32,33,34,35,36,37,38,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.252782|0.747218;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050100000a0517053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.666667;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.605263;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.714286;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.851064;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.003;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_052843.3|Genbank:NM_001098623.2|Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_1|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_2|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_052843.3|NM_001098623.2|NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon50:c.A13142G:p.H4381R,OBSCN:NM_052843:exon50:c.A13142G:p.H4381R,OBSCN:NM_001271223:exon61:c.A16013G:p.H5338R;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.7499;esp6500siv2_ea=0.7056;esp6500siv2_all=0.7499;esp6500siv2_ea=0.7056;1000g2015aug_all=0.700879;avsnp147=rs1150912;Kaviar_AF=0.63267;Kaviar_AC=97812;Kaviar_AN=154602;ExAC_ALL=0.7014;ExAC_AFR=0.8324;ExAC_AMR=0.7588;ExAC_EAS=0.7335;ExAC_FIN=0.7888;ExAC_NFE=0.7111;ExAC_OTH=0.6720;ExAC_SAS=0.5181;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.160;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.435;MutationAssessor_pred=N;FATHMM_score=3.63;FATHMM_pred=T;PROVEAN_score=-0.1;PROVEAN_pred=N;VEST3_score=0.027;CADD_raw=-2.279;CADD_phred=0.001;DANN_score=0.651;fathmm-MKL_coding_score=0.053;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.035;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.701;integrated_confidence_value=0;GERP++_RS=-6.7;phyloP7way_vertebrate=-0.935;phyloP20way_mammalian=-1.090;phastCons7way_vertebrate=0.079;phastCons20way_mammalian=0.004;SiPhy_29way_logOdds=11.509;GDI_full_10282015=.;dpsi_max_tissue=0.0635;dpsi_zscore=0.356;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.6901;gnomAD_exome_AFR=0.8269;gnomAD_exome_AMR=0.7489;gnomAD_exome_ASJ=0.6373;gnomAD_exome_EAS=0.7239;gnomAD_exome_FIN=0.7677;gnomAD_exome_NFE=0.6950;gnomAD_exome_OTH=0.6792;gnomAD_exome_SAS=0.4940;gnomAD_genome_ALL=0.7537;gnomAD_genome_AFR=0.8285;gnomAD_genome_AMR=0.7542;gnomAD_genome_ASJ=0.6424;gnomAD_genome_EAS=0.7038;gnomAD_genome_FIN=0.7811;gnomAD_genome_NFE=0.7144;gnomAD_genome_OTH=0.7064;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:182:0,92 1/1:227:0,227 1/1:196:0,196 1:247:0,113 1/1:191:0,191 1/1:268:0,268 1:204:0,106 1/1:228:0,228 1:289:0,126 . 1:299:0,135 1/1:283:0,282 1:283:0,142 1/1:269:0,269 1:364:0,177 1:280:0,133 1:264:0,117 . 1/1:199:0,198 1:232:0,103 1/1:193:0,193 1/1:233:0,233 1:398:0,182 1:382:0,180 1/1:364:0,364 1:231:0,105 1/1:272:0,271 1:338:0,170 . 1:313:0,153 . 1/1:143:0,143 1/1:250:0,250 1:184:0,94 1:248:0,120 1/1:242:0,241 1/1:215:0,215 1/1:189:0,189 1:215:0,112 1:291:0,159 1:271:0,119 1:258:0,113 1 228503711 rs116266256 G A 200.00 . #_unique_end_positions=,52;#_unique_start_positions=,45;AC=6;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0045;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0115;AN=6;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.29;CAF_dbsnp_common_v150_hg19_refseq=,0.987|0.01298|.;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001098623.2:c.13176G>A|_NM_001271223.2:c.16047G>A|_NM_052843.3:c.13176G>A;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.16047G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0298;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,77;GENEINFO_dbsnp_common_v150_hg19_refseq=,OBSCN:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_052843.3|NM_001098623.2|NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5674|rna5673|rna5672;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,No;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,228503711;RS_dbsnp_common_v150_hg19_refseq=,116266256;Read_count=,95;Read_coverage=,213;Read_direction_test_probability=,0.993753766945058;Read_position_test_probability=,0.9179787943441002;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_052843.3|NM_001098623.2|NM_001271223.2;Reverse_read_coverage=,136;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0215;SF=2,7,12,20,32,37;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.977847|0.0221528|.;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050100000b05140436000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.964;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_052843.3|Genbank:NM_001098623.2|Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_1|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_2|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_052843.3|NM_001098623.2|NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon50:c.G13176A:p.E4392E,OBSCN:NM_052843:exon50:c.G13176A:p.E4392E,OBSCN:NM_001271223:exon61:c.G16047A:p.E5349E;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0241;esp6500siv2_ea=0.0327;esp6500siv2_all=0.0241;esp6500siv2_ea=0.0327;1000g2015aug_all=0.0129792;avsnp147=rs116266256;Kaviar_AF=0.0229945;Kaviar_AC=3555;Kaviar_AN=154602;ExAC_ALL=0.0391;ExAC_AFR=0.0078;ExAC_AMR=0.0119;ExAC_EAS=0;ExAC_FIN=0.0525;ExAC_NFE=0.0523;ExAC_OTH=0.0282;ExAC_SAS=0.0343;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0595;dpsi_zscore=0.340;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0257;gnomAD_exome_AFR=0.0058;gnomAD_exome_AMR=0.0103;gnomAD_exome_ASJ=0.0136;gnomAD_exome_EAS=6.665e-05;gnomAD_exome_FIN=0.0256;gnomAD_exome_NFE=0.0380;gnomAD_exome_OTH=0.0229;gnomAD_exome_SAS=0.0278;gnomAD_genome_ALL=0.0273;gnomAD_genome_AFR=0.0071;gnomAD_genome_AMR=0.0131;gnomAD_genome_ASJ=0.0232;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0244;gnomAD_genome_NFE=0.0432;gnomAD_genome_OTH=0.0316;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . 1:186:0,86 . . . . 1:220:0,101 . . . . 1:286:0,143 . . . . . . . 1:164:0,71 . . . . . . . . . . . 1:248:0,119 . . . . 1:181:0,84 . . . . 1 228504472 rs1188732 T C 195.50 . #_unique_end_positions=,51;#_unique_start_positions=,43;AC=55;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.8661;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7147;AN=55;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001092093.2:p.Cys4450Arg|_NP_443075.3:p.Cys4450Arg|_NP_001258152.2:p.Cys5407Arg;Amino_acid_change_in_longest_transcript=,NP_001258152.2:p.Cys5407Arg;BaseQRankSum=,-0.08;CAF_dbsnp_common_v150_hg19_refseq=,0.3007|0.6993;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001098623.2:c.13348T>C|_NM_001271223.2:c.16219T>C|_NM_052843.3:c.13348T>C;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.16219T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7480;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6740;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,106;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,OBSCN:84033;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_052843.3|NM_001098623.2|NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5674|rna5673|rna5672;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,228504472;RS_dbsnp_common_v150_hg19_refseq=,1188732;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,87;Read_coverage=,148;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9544352467880935;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_052843.3|NM_001098623.2|NM_001271223.2;Reverse_read_coverage=,42;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4387;SF=0,1,2,3,4,5,6,7,8,10,11,12,13,14,15,16,18,19,20,21,22,23,24,25,26,27,29,31,32,33,34,35,36,37,38,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.255255|0.744745;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050100000a0517053e000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.0;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_052843.3|Genbank:NM_001098623.2|Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_1|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_2|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_052843.3|NM_001098623.2|NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon51:c.T13348C:p.C4450R,OBSCN:NM_052843:exon51:c.T13348C:p.C4450R,OBSCN:NM_001271223:exon62:c.T16219C:p.C5407R;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.7441;esp6500siv2_ea=0.7008;esp6500siv2_all=0.7441;esp6500siv2_ea=0.7008;1000g2015aug_all=0.699281;avsnp147=rs1188732;Kaviar_AF=0.659759;Kaviar_AC=102000;Kaviar_AN=154602;ExAC_ALL=0.6949;ExAC_AFR=0.8259;ExAC_AMR=0.7505;ExAC_EAS=0.7283;ExAC_FIN=0.7761;ExAC_NFE=0.7040;ExAC_OTH=0.6470;ExAC_SAS=0.5033;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.458;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.024;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.64;MutationAssessor_pred=N;FATHMM_score=0.22;FATHMM_pred=T;PROVEAN_score=0.79;PROVEAN_pred=N;VEST3_score=0.063;CADD_raw=-1.304;CADD_phred=0.004;DANN_score=0.412;fathmm-MKL_coding_score=0.020;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.024;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.646;integrated_confidence_value=0;GERP++_RS=-5.27;phyloP7way_vertebrate=-1.917;phyloP20way_mammalian=-0.364;phastCons7way_vertebrate=0.001;phastCons20way_mammalian=0.002;SiPhy_29way_logOdds=3.614;GDI_full_10282015=.;dpsi_max_tissue=0.2581;dpsi_zscore=0.826;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.6931;gnomAD_exome_AFR=0.8231;gnomAD_exome_AMR=0.7511;gnomAD_exome_ASJ=0.6378;gnomAD_exome_EAS=0.7279;gnomAD_exome_FIN=0.7703;gnomAD_exome_NFE=0.6982;gnomAD_exome_OTH=0.6821;gnomAD_exome_SAS=0.4970;gnomAD_genome_ALL=0.7527;gnomAD_genome_AFR=0.8236;gnomAD_genome_AMR=0.7554;gnomAD_genome_ASJ=0.64;gnomAD_genome_EAS=0.7063;gnomAD_genome_FIN=0.7814;gnomAD_genome_NFE=0.7147;gnomAD_genome_OTH=0.7090;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:126:0,73 1/1:263:0,263 1/1:202:0,202 1:201:0,95 1/1:175:0,175 1/1:226:0,226 1:167:0,86 1/1:197:0,197 1:242:0,122 . 1:288:0,121 1/1:244:0,244 1:257:0,118 1/1:182:0,182 1:360:0,190 1:210:0,109 1:235:0,131 . 1/1:165:0,165 1:215:0,97 1/1:169:0,169 1/1:222:0,222 1:377:0,193 1:272:0,116 1/1:297:0,297 1:203:0,102 1/1:190:0,190 1:290:0,142 . 1:253:0,135 . 1/1:113:0,113 1/1:203:0,203 1:170:0,91 1:179:0,82 1/1:204:0,204 1/1:201:0,201 1/1:175:0,175 1:176:0,80 1:219:0,110 1:236:0,106 1:177:0,94 1 228504505 . G A 200.00 . #_unique_end_positions=,45;#_unique_start_positions=,35;AC=1;AN=1;Amino_acid_change=,NP_001258152.2:p.Val5418Met|_NP_001092093.2:p.Val4461Met|_NP_443075.3:p.Val4461Met;Amino_acid_change_in_longest_transcript=,NP_001258152.2:p.Val5418Met;BaseQRankSum=,-0.68;Coding_region_change=,NM_001098623.2:c.13381G>A|_NM_001271223.2:c.16252G>A|_NM_052843.3:c.13381G>A;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.16252G>A;Forward_read_coverage=,81;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_052843.3|NM_001098623.2|NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5674|rna5673|rna5672;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;Non-synonymous=,Yes;Other_variants_within_codon=,Yes;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;Read_count=,61;Read_coverage=,122;Read_direction_test_probability=,0.9915979958010298;Read_position_test_probability=,0.9376052367594357;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_052843.3|NM_001098623.2|NM_001271223.2;Reverse_read_coverage=,41;SF=31;conservation_score=,0.967;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_052843.3|Genbank:NM_001098623.2|Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_1|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_2|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_052843.3|NM_001098623.2|NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon51:c.G13381A:p.V4461M,OBSCN:NM_052843:exon51:c.G13381A:p.V4461M,OBSCN:NM_001271223:exon62:c.G16252A:p.V5418M;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs774121775;Kaviar_AF=5.82e-05;Kaviar_AC=9;Kaviar_AN=154602;ExAC_ALL=5.258e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=3.778e-05;ExAC_OTH=0;ExAC_SAS=0.0002;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.004;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.935;Polyphen2_HVAR_pred=D;LRT_score=0.080;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=N;MutationAssessor_score=1.04;MutationAssessor_pred=L;FATHMM_score=-0.02;FATHMM_pred=T;PROVEAN_score=-1.51;PROVEAN_pred=N;VEST3_score=0.426;CADD_raw=3.639;CADD_phred=23.2;DANN_score=0.977;fathmm-MKL_coding_score=0.291;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.408;MetaSVM_pred=T;MetaLR_score=0.472;MetaLR_pred=T;integrated_fitCons_score=0.646;integrated_confidence_value=0;GERP++_RS=5.14;phyloP7way_vertebrate=0.913;phyloP20way_mammalian=0.132;phastCons7way_vertebrate=0.269;phastCons20way_mammalian=0.090;SiPhy_29way_logOdds=13.978;GDI_full_10282015=.;dpsi_max_tissue=-0.2477;dpsi_zscore=-0.772;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=2.517e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0;gnomAD_exome_NFE=2.794e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=3.296e-05;gnomAD_genome_ALL=3.234e-05;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:113:0,54 . . . . . . . . . . 1 228504507 rs114932694 G T 200.00 . #_unique_end_positions=,56;#_unique_start_positions=,52;AC=3;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0043;AN=3;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.28;CAF_dbsnp_common_v150_hg19_refseq=,0.995|.|0.004992;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001098623.2:c.13383G>T|_NM_001271223.2:c.16254G>T|_NM_052843.3:c.13383G>T;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.16254G>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0219;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,144;GENEINFO_dbsnp_common_v150_hg19_refseq=,OBSCN:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,G/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_052843.3|NM_001098623.2|NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5674|rna5673|rna5672;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;Non-synonymous=,No;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,228504507;RS_dbsnp_common_v150_hg19_refseq=,114932694;Read_count=,104;Read_coverage=,225;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9964384551373269;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_052843.3|NM_001098623.2|NM_001271223.2;Reverse_read_coverage=,81;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=15,31,35;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.988116|.|0.0118835;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050100000305040436000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.998;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_052843.3|Genbank:NM_001098623.2|Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_1|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_2|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_052843.3|NM_001098623.2|NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon51:c.G13383T:p.V4461V,OBSCN:NM_052843:exon51:c.G13383T:p.V4461V,OBSCN:NM_001271223:exon62:c.G16254T:p.V5418V;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0149;esp6500siv2_ea=0.0203;esp6500siv2_all=0.0149;esp6500siv2_ea=0.0203;1000g2015aug_all=0.00499201;avsnp147=rs114932694;Kaviar_AF=0.0137385;Kaviar_AC=2124;Kaviar_AN=154602;ExAC_ALL=0.0171;ExAC_AFR=0.0037;ExAC_AMR=0.0067;ExAC_EAS=0;ExAC_FIN=0.0340;ExAC_NFE=0.0256;ExAC_OTH=0.0138;ExAC_SAS=0.0021;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.4113;dpsi_zscore=1.738;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0147;gnomAD_exome_AFR=0.0030;gnomAD_exome_AMR=0.0086;gnomAD_exome_ASJ=0.0169;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0238;gnomAD_exome_NFE=0.0220;gnomAD_exome_OTH=0.0168;gnomAD_exome_SAS=0.0020;gnomAD_genome_ALL=0.0131;gnomAD_genome_AFR=0.0041;gnomAD_genome_AMR=0.0131;gnomAD_genome_ASJ=0.0199;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0206;gnomAD_genome_NFE=0.0176;gnomAD_genome_OTH=0.0174;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . . . . . . . 1:200:0,95 . . . . . . . . . . . . . . . 1:112:0,54 . . . 1:206:0,101 . . . . . . 1 228504591 rs61825301 C A 196.63 . #_unique_end_positions=,50;#_unique_start_positions=,48;AC=13;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1210;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2349;AN=13;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_443075.3:p.His4489Gln|_NP_001258152.2:p.His5446Gln|_NP_001092093.2:p.His4489Gln;Amino_acid_change_in_longest_transcript=,NP_001258152.2:p.His5446Gln;BaseQRankSum=,-0.89;CAF_dbsnp_common_v150_hg19_refseq=,0.8546|0.1454|.;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001098623.2:c.13467C>A|_NM_001271223.2:c.16338C>A|_NM_052843.3:c.13467C>A;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.16338C>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1518;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1590;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,78;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,OBSCN:84033;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,A/C;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_052843.3|NM_001098623.2|NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5674|rna5673|rna5672;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,228504591;RS_dbsnp_common_v150_hg19_refseq=,61825301;Read_count=,105;Read_coverage=,206;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9576239289610043;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_052843.3|NM_001098623.2|NM_001271223.2;Reverse_read_coverage=,128;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0941;SF=0,1,2,4,5,15,21,22,31,33,35,39;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.829407|0.170593|.;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050100000b05150536000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.074;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_052843.3|Genbank:NM_001098623.2|Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_1|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_2|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_052843.3|NM_001098623.2|NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon51:c.C13467A:p.H4489Q,OBSCN:NM_052843:exon51:c.C13467A:p.H4489Q,OBSCN:NM_001271223:exon62:c.C16338A:p.H5446Q;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.1639;esp6500siv2_ea=0.1672;esp6500siv2_all=0.1639;esp6500siv2_ea=0.1672;1000g2015aug_all=0.145367;avsnp147=rs61825301;Kaviar_AF=0.142967;Kaviar_AC=22103;Kaviar_AN=154602;ExAC_ALL=0.2444;ExAC_AFR=0.2253;ExAC_AMR=0.4333;ExAC_EAS=0.2410;ExAC_FIN=0.2704;ExAC_NFE=0.2674;ExAC_OTH=0.2484;ExAC_SAS=0.1267;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.094;SIFT_pred=T;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.921;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=1.855;MutationAssessor_pred=L;FATHMM_score=0.14;FATHMM_pred=T;PROVEAN_score=-3.51;PROVEAN_pred=D;VEST3_score=0.357;CADD_raw=1.476;CADD_phred=13.19;DANN_score=0.670;fathmm-MKL_coding_score=0.134;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.041;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.646;integrated_confidence_value=0;GERP++_RS=0.187;phyloP7way_vertebrate=0.005;phyloP20way_mammalian=0.076;phastCons7way_vertebrate=0.637;phastCons20way_mammalian=0.259;SiPhy_29way_logOdds=9.788;GDI_full_10282015=.;dpsi_max_tissue=0.6030;dpsi_zscore=1.231;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1888;gnomAD_exome_AFR=0.1658;gnomAD_exome_AMR=0.3112;gnomAD_exome_ASJ=0.2113;gnomAD_exome_EAS=0.1575;gnomAD_exome_FIN=0.1554;gnomAD_exome_NFE=0.1833;gnomAD_exome_OTH=0.1882;gnomAD_exome_SAS=0.1074;gnomAD_genome_ALL=0.1676;gnomAD_genome_AFR=0.1624;gnomAD_genome_AMR=0.2936;gnomAD_genome_ASJ=0.1821;gnomAD_genome_EAS=0.1363;gnomAD_genome_FIN=0.1618;gnomAD_genome_NFE=0.1681;gnomAD_genome_OTH=0.1653;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:173:0,89 1:286:0,116 1:262:0,116 . 1/1:221:0,221 1:309:0,162 . . . . . . . . . 1:249:0,115 . . . . . 1:296:0,152 1:504:0,262 . . . . . . . . 1:127:0,66 . 1:202:0,106 . 1:266:0,148 . . . 1:270:0,138 . . 1 228504669 rs61825302 G A 196.63 . #_unique_end_positions=,41;#_unique_start_positions=,37;AC=13;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1218;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2349;AN=13;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.21;CAF_dbsnp_common_v150_hg19_refseq=,0.8544|0.1456;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001098623.2:c.13545G>A|_NM_001271223.2:c.16416G>A|_NM_052843.3:c.13545G>A;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.16416G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1518;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1590;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,60;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,OBSCN:84033;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_052843.3|NM_001098623.2|NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5674|rna5673|rna5672;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;Non-synonymous=,No;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,228504669;RS_dbsnp_common_v150_hg19_refseq=,61825302;Read_count=,68;Read_coverage=,148;Read_direction_test_probability=,0.9966890605065507;Read_position_test_probability=,0.9658100027673988;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_052843.3|NM_001098623.2|NM_001271223.2;Reverse_read_coverage=,88;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0941;SF=0,1,2,4,5,15,21,22,31,33,35,39;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.829166|0.170834;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050100000305170136000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.001;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_052843.3|Genbank:NM_001098623.2|Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_1|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_2|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_052843.3|NM_001098623.2|NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon51:c.G13545A:p.A4515A,OBSCN:NM_052843:exon51:c.G13545A:p.A4515A,OBSCN:NM_001271223:exon62:c.G16416A:p.A5472A;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.1418;esp6500siv2_ea=0.1453;esp6500siv2_all=0.1418;esp6500siv2_ea=0.1453;1000g2015aug_all=0.145567;avsnp147=rs61825302;Kaviar_AF=0.0800054;Kaviar_AC=12369;Kaviar_AN=154602;ExAC_ALL=0.1706;ExAC_AFR=0.2069;ExAC_AMR=0.3238;ExAC_EAS=0.1271;ExAC_FIN=0.2;ExAC_NFE=0.2135;ExAC_OTH=0.2097;ExAC_SAS=0.1298;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.5118;dpsi_zscore=-1.103;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1921;gnomAD_exome_AFR=0.1774;gnomAD_exome_AMR=0.3076;gnomAD_exome_ASJ=0.2115;gnomAD_exome_EAS=0.1578;gnomAD_exome_FIN=0.1681;gnomAD_exome_NFE=0.1818;gnomAD_exome_OTH=0.1879;gnomAD_exome_SAS=0.1087;gnomAD_genome_ALL=0.1729;gnomAD_genome_AFR=0.1706;gnomAD_genome_AMR=0.2985;gnomAD_genome_ASJ=0.1833;gnomAD_genome_EAS=0.1394;gnomAD_genome_FIN=0.1656;gnomAD_genome_NFE=0.1725;gnomAD_genome_OTH=0.1695;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:130:0,60 1:223:0,95 1:216:0,97 . 1/1:188:0,188 1:265:0,143 . . . . . . . . . 1:232:0,92 . . . . . 1:217:0,99 1:368:0,178 . . . . . . . . 1:114:0,54 . 1:152:0,87 . 1:218:0,116 . . . 1:215:0,94 . . 1 228504670 rs11810627 C T 196.02 . #_unique_end_positions=,69;#_unique_start_positions=,59;AC=41;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2791;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4006;AN=41;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001092093.2:p.Arg4516Trp|_NP_001258152.2:p.Arg5473Trp|_NP_443075.3:p.Arg4516Trp;Amino_acid_change_in_longest_transcript=,NP_001258152.2:p.Arg5473Trp;BaseQRankSum=,0.06;CAF_dbsnp_common_v150_hg19_refseq=,0.6697|0.3303;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001098623.2:c.13546C>T|_NM_001271223.2:c.16417C>T|_NM_052843.3:c.13546C>T;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.16417C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2490;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4861;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,198;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,OBSCN:84033;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,complex;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_052843.3|NM_001098623.2|NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5674|rna5673|rna5672;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Other_variants_within_codon=,Yes;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,228504670;RS_dbsnp_common_v150_hg19_refseq=,11810627;Read_count=,142;Read_coverage=,247;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9967496924493652;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_052843.3|NM_001098623.2|NM_001271223.2;Reverse_read_coverage=,298;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2730;SF=1,2,3,5,6,7,8,10,11,12,13,14,16,18,19,20,21,23,24,25,26,27,29,31,32,34,35,36,37,38,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.618698|0.381302;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050100000a0517013e000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.013;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_052843.3|Genbank:NM_001098623.2|Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_1|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_2|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_052843.3|NM_001098623.2|NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon51:c.C13546T:p.R4516W,OBSCN:NM_052843:exon51:c.C13546T:p.R4516W,OBSCN:NM_001271223:exon62:c.C16417T:p.R5473W;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.3755;esp6500siv2_ea=0.4398;esp6500siv2_all=0.3755;esp6500siv2_ea=0.4398;1000g2015aug_all=0.330272;avsnp147=rs11810627;Kaviar_AF=0.207882;Kaviar_AC=32139;Kaviar_AN=154602;ExAC_ALL=0.4230;ExAC_AFR=0.3255;ExAC_AMR=0.3583;ExAC_EAS=0.2462;ExAC_FIN=0.6111;ExAC_NFE=0.5071;ExAC_OTH=0.4385;ExAC_SAS=0.3816;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.111;SIFT_pred=T;Polyphen2_HDIV_score=0.071;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.007;Polyphen2_HVAR_pred=B;LRT_score=0.003;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=1.3;MutationAssessor_pred=L;FATHMM_score=0.2;FATHMM_pred=T;PROVEAN_score=-2.21;PROVEAN_pred=N;VEST3_score=0.389;CADD_raw=3.693;CADD_phred=23.3;DANN_score=0.809;fathmm-MKL_coding_score=0.587;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.946;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.646;integrated_confidence_value=0;GERP++_RS=-0.971;phyloP7way_vertebrate=-0.061;phyloP20way_mammalian=0.035;phastCons7way_vertebrate=0.020;phastCons20way_mammalian=0.001;SiPhy_29way_logOdds=10.362;GDI_full_10282015=.;dpsi_max_tissue=-0.1379;dpsi_zscore=-0.552;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.4098;gnomAD_exome_AFR=0.2869;gnomAD_exome_AMR=0.3675;gnomAD_exome_ASJ=0.4187;gnomAD_exome_EAS=0.2045;gnomAD_exome_FIN=0.5620;gnomAD_exome_NFE=0.4992;gnomAD_exome_OTH=0.4257;gnomAD_exome_SAS=0.3347;gnomAD_genome_ALL=0.4424;gnomAD_genome_AFR=0.2941;gnomAD_genome_AMR=0.3768;gnomAD_genome_ASJ=0.4172;gnomAD_genome_EAS=0.2075;gnomAD_genome_FIN=0.5672;gnomAD_genome_NFE=0.5236;gnomAD_genome_OTH=0.4876;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . 1:223:0,127 1:216:0,118 1:238:0,101 . 1:265:0,122 1:205:0,92 1/1:192:0,192 1:230:0,114 . 1:328:0,141 1/1:255:0,255 1:301:0,151 1/1:219:0,219 1:434:0,221 . 1:269:0,132 . 1/1:182:0,182 1:233:0,113 1/1:183:0,183 1:218:0,118 . 1:326:0,156 1/1:306:0,306 1:224:0,99 1/1:230:0,230 1:318:0,162 . 1:351:0,186 . 1:115:0,60 1/1:217:0,217 . 1:205:0,98 1:218:0,102 1/1:201:0,201 1:167:0,79 1:179:0,86 . 1:244:0,116 1:206:0,97 1 228505204 rs4653942 G A 196.38 . #_unique_end_positions=,24;#_unique_start_positions=,20;AC=13;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3941;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2954;AN=13;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001092093.2:p.Arg4534His|_NP_001258152.2:p.Arg5491His|_NP_443075.3:p.Arg4534His;Amino_acid_change_in_longest_transcript=,NP_001258152.2:p.Arg5491His;BaseQRankSum=,-0.47;CAF_dbsnp_common_v150_hg19_refseq=,0.6847|0.3153;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001098623.2:c.13601G>A|_NM_001271223.2:c.16472G>A|_NM_052843.3:c.13601G>A;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.16472G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4990;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1869;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,52;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,OBSCN:84033;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_052843.3|NM_001098623.2|NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5674|rna5673|rna5672;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,228505204;RS_dbsnp_common_v150_hg19_refseq=,4653942;Read_count=,34;Read_coverage=,88;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9889401403651333;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_052843.3|NM_001098623.2|NM_001271223.2;Reverse_read_coverage=,36;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1656;SF=0,1,2,4,5,15,21,22,31,33,35,39;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.706038|0.293962;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050100000a05170537000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.336735;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.236607;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.426829;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.423529;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.176471;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.560976;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.482558;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.448864;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.306122;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.381119;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.180233;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.357143;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.007;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_052843.3|Genbank:NM_001098623.2|Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_1|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_2|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_052843.3|NM_001098623.2|NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon52:c.G13601A:p.R4534H,OBSCN:NM_052843:exon52:c.G13601A:p.R4534H,OBSCN:NM_001271223:exon63:c.G16472A:p.R5491H;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.2542;esp6500siv2_ea=0.1944;esp6500siv2_all=0.2542;esp6500siv2_ea=0.1944;1000g2015aug_all=0.315296;avsnp147=rs4653942;Kaviar_AF=0.242164;Kaviar_AC=37439;Kaviar_AN=154602;ExAC_ALL=0.2619;ExAC_AFR=0.4080;ExAC_AMR=0.4013;ExAC_EAS=0.5245;ExAC_FIN=0.2177;ExAC_NFE=0.2095;ExAC_OTH=0.2345;ExAC_SAS=0.1698;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.072;SIFT_pred=T;Polyphen2_HDIV_score=0.994;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.706;Polyphen2_HVAR_pred=P;LRT_score=0.229;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.875;MutationAssessor_pred=L;FATHMM_score=0.37;FATHMM_pred=T;PROVEAN_score=-1.68;PROVEAN_pred=N;VEST3_score=0.176;CADD_raw=3.357;CADD_phred=22.9;DANN_score=0.953;fathmm-MKL_coding_score=0.032;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.932;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.646;integrated_confidence_value=0;GERP++_RS=2.36;phyloP7way_vertebrate=-0.234;phyloP20way_mammalian=0.026;phastCons7way_vertebrate=0.005;phastCons20way_mammalian=0.004;SiPhy_29way_logOdds=2.871;GDI_full_10282015=.;dpsi_max_tissue=0.0588;dpsi_zscore=0.337;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2617;gnomAD_exome_AFR=0.4037;gnomAD_exome_AMR=0.3860;gnomAD_exome_ASJ=0.2306;gnomAD_exome_EAS=0.5265;gnomAD_exome_FIN=0.2116;gnomAD_exome_NFE=0.2031;gnomAD_exome_OTH=0.2402;gnomAD_exome_SAS=0.1670;gnomAD_genome_ALL=0.2724;gnomAD_genome_AFR=0.3891;gnomAD_genome_AMR=0.3708;gnomAD_genome_ASJ=0.2267;gnomAD_genome_EAS=0.4981;gnomAD_genome_FIN=0.2175;gnomAD_genome_NFE=0.1924;gnomAD_genome_OTH=0.2112;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:81:0,32 1:136:0,62 1:142:0,49 . 1/1:95:0,95 1:164:0,78 . . . . . . . . . 1:156:0,80 . . . . . 1:153:0,71 1:260:0,117 . . . . . . . . 1:63:0,25 . 1:113:0,54 . 1:137:0,56 . . . 1:164:0,64 . . 1 228505668 rs1188729 C G 198.94 . #_unique_end_positions=,41;#_unique_start_positions=,42;AC=55;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.8661;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7147;AN=55;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001258152.2:p.Ser5599Cys|_NP_001092093.2:p.Ser4642Cys|_NP_443075.3:p.Ser4642Cys;Amino_acid_change_in_longest_transcript=,NP_001258152.2:p.Ser5599Cys;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.3007|0.6993;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001098623.2:c.13925C>G|_NM_001271223.2:c.16796C>G|_NM_052843.3:c.13925C>G;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.16796C>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7480;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6740;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,99;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,OBSCN:84033;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,C/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_052843.3|NM_001098623.2|NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5674|rna5673|rna5672;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,228505668;RS_dbsnp_common_v150_hg19_refseq=,1188729;Read_count=,86;Read_coverage=,166;Read_direction_test_probability=,0.9020488536720536;Read_position_test_probability=,0.8027363342819317;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_052843.3|NM_001098623.2|NM_001271223.2;Reverse_read_coverage=,67;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4387;SF=0,1,2,3,4,5,6,7,8,10,11,12,13,14,15,16,18,19,20,21,22,23,24,25,26,27,29,31,32,33,34,35,36,37,38,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.255392|0.744608;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128000a0517053f000101;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.675;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.666667;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.755814;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.833333;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.673;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_052843.3|Genbank:NM_001098623.2|Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_1|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_2|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_052843.3|NM_001098623.2|NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon53:c.C13925G:p.S4642C,OBSCN:NM_052843:exon53:c.C13925G:p.S4642C,OBSCN:NM_001271223:exon64:c.C16796G:p.S5599C;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.7453;esp6500siv2_ea=0.7016;esp6500siv2_all=0.7453;esp6500siv2_ea=0.7016;1000g2015aug_all=0.699281;avsnp147=rs1188729;Kaviar_AF=0.684881;Kaviar_AC=105884;Kaviar_AN=154602;ExAC_ALL=0.6940;ExAC_AFR=0.8253;ExAC_AMR=0.7480;ExAC_EAS=0.7293;ExAC_FIN=0.7731;ExAC_NFE=0.7027;ExAC_OTH=0.6478;ExAC_SAS=0.4959;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.089;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.205;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.165;MutationAssessor_pred=N;FATHMM_score=-1.09;FATHMM_pred=T;PROVEAN_score=2.16;PROVEAN_pred=N;VEST3_score=0.11;CADD_raw=0.755;CADD_phred=9.181;DANN_score=0.322;fathmm-MKL_coding_score=0.001;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.986;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.696;integrated_confidence_value=0;GERP++_RS=2.58;phyloP7way_vertebrate=0.009;phyloP20way_mammalian=0.037;phastCons7way_vertebrate=0.140;phastCons20way_mammalian=0.115;SiPhy_29way_logOdds=7.934;GDI_full_10282015=.;dpsi_max_tissue=1.9292;dpsi_zscore=1.946;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.6949;gnomAD_exome_AFR=0.8246;gnomAD_exome_AMR=0.7513;gnomAD_exome_ASJ=0.6385;gnomAD_exome_EAS=0.7291;gnomAD_exome_FIN=0.7709;gnomAD_exome_NFE=0.6997;gnomAD_exome_OTH=0.6847;gnomAD_exome_SAS=0.4972;gnomAD_genome_ALL=0.7523;gnomAD_genome_AFR=0.8230;gnomAD_genome_AMR=0.7554;gnomAD_genome_ASJ=0.6424;gnomAD_genome_EAS=0.7042;gnomAD_genome_FIN=0.7813;gnomAD_genome_NFE=0.7146;gnomAD_genome_OTH=0.7055;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:135:0,70 1/1:223:0,223 1/1:208:0,208 1:217:0,99 1/1:160:0,160 1/1:219:0,219 1:205:0,104 1/1:186:0,186 1:236:0,116 . 1:259:0,120 1/1:244:0,244 1:268:0,119 1/1:259:0,259 1:350:0,155 1:273:0,111 1:219:0,91 . 1/1:163:0,163 1:239:0,98 1/1:183:0,183 1/1:211:0,211 1:353:0,177 1:360:0,190 1/1:264:0,264 1:208:0,92 1/1:208:0,208 1:277:0,109 . 1:294:0,145 . 1/1:137:0,137 1/1:203:0,203 1:189:0,93 1:241:0,117 1/1:212:0,212 1/1:220:0,220 1/1:156:0,156 1:170:0,80 1:254:0,122 1:208:0,103 1:174:0,76 1 228505699 rs1188728 T C 195.66 . #_unique_end_positions=,39;#_unique_start_positions=,40;AC=55;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.8888;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7190;AN=55;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.64;CAF_dbsnp_common_v150_hg19_refseq=,0.2941|0.7059|.;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001098623.2:c.13956T>C|_NM_001271223.2:c.16827T>C|_NM_052843.3:c.13956T>C;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.16827T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7480;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6740;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,73;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,OBSCN:84033;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_052843.3|NM_001098623.2|NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5674|rna5673|rna5672;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;Non-synonymous=,No;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,228505699;RS_dbsnp_common_v150_hg19_refseq=,1188728;Read_count=,77;Read_coverage=,146;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9621857308472553;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_052843.3|NM_001098623.2|NM_001271223.2;Reverse_read_coverage=,73;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4387;SF=0,1,2,3,4,5,6,7,8,10,11,12,13,14,15,16,18,19,20,21,22,23,24,25,26,27,29,31,32,33,34,35,36,37,38,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.244299|0.755701|.;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05010000030515013e000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.0;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_052843.3|Genbank:NM_001098623.2|Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_1|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_2|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_052843.3|NM_001098623.2|NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon53:c.T13956C:p.G4652G,OBSCN:NM_052843:exon53:c.T13956C:p.G4652G,OBSCN:NM_001271223:exon64:c.T16827C:p.G5609G;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.7531;esp6500siv2_ea=0.7008;esp6500siv2_all=0.7531;esp6500siv2_ea=0.7008;1000g2015aug_all=0.705871;avsnp147=rs1188728;Kaviar_AF=0.004172;Kaviar_AC=645;Kaviar_AN=154602;ExAC_ALL=0.6974;ExAC_AFR=0.8496;ExAC_AMR=0.7495;ExAC_EAS=0.7299;ExAC_FIN=0.7775;ExAC_NFE=0.7045;ExAC_OTH=0.65;ExAC_SAS=0.4961;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.8011;dpsi_zscore=1.901;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.6972;gnomAD_exome_AFR=0.8480;gnomAD_exome_AMR=0.7525;gnomAD_exome_ASJ=0.6392;gnomAD_exome_EAS=0.7294;gnomAD_exome_FIN=0.7722;gnomAD_exome_NFE=0.7007;gnomAD_exome_OTH=0.6869;gnomAD_exome_SAS=0.4973;gnomAD_genome_ALL=0.7600;gnomAD_genome_AFR=0.85;gnomAD_genome_AMR=0.7566;gnomAD_genome_ASJ=0.6424;gnomAD_genome_EAS=0.7046;gnomAD_genome_FIN=0.7813;gnomAD_genome_NFE=0.7147;gnomAD_genome_OTH=0.7076;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:124:0,64 1/1:213:0,213 1/1:192:0,191 1:191:0,81 1/1:145:0,145 1/1:210:0,210 1:176:0,94 1/1:169:0,169 1:240:0,119 . 1:272:0,118 1/1:221:0,221 1:262:0,116 1/1:253:0,253 1:330:0,142 1:250:0,111 1:216:0,98 . 1/1:154:0,154 1:225:0,97 1/1:183:0,183 1/1:206:0,206 1:339:0,170 1:350:0,192 1/1:255:0,255 1:213:0,90 1/1:215:0,215 1:267:0,96 . 1:277:0,129 . 1/1:133:0,133 1/1:188:0,188 1:171:0,91 1:230:0,113 1/1:185:0,185 1/1:200:0,200 1/1:139:0,139 1:156:0,75 1:222:0,112 1:221:0,103 1:164:0,72 1 228505725 rs200399314 A C 200.00 . #_unique_end_positions=,79;#_unique_start_positions=,68;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AN=1;Amino_acid_change=,NP_001258152.2:p.Glu5618Ala|_NP_443075.3:p.Glu4661Ala|_NP_001092093.2:p.Glu4661Ala;Amino_acid_change_in_longest_transcript=,NP_001258152.2:p.Glu5618Ala;BaseQRankSum=,-0.19;Coding_region_change=,NM_001098623.2:c.13982A>C|_NM_001271223.2:c.16853A>C|_NM_052843.3:c.13982A>C;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.16853A>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;Exact_match=,1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,126;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,A/C;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_052843.3|NM_001098623.2|NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5674|rna5673|rna5672;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;Read_count=,180;Read_coverage=,364;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9202072243491884;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_052843.3|NM_001098623.2|NM_001271223.2;Reverse_read_coverage=,238;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;SF=22;conservation_score=,0.96;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_052843.3|Genbank:NM_001098623.2|Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_1|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_2|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_052843.3|NM_001098623.2|NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon53:c.A13982C:p.E4661A,OBSCN:NM_052843:exon53:c.A13982C:p.E4661A,OBSCN:NM_001271223:exon64:c.A16853C:p.E5618A;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0006;esp6500siv2_ea=0.0009;esp6500siv2_all=0.0006;esp6500siv2_ea=0.0009;1000g2015aug_all=0.000399361;avsnp147=rs200399314;Kaviar_AF=0.0009638;Kaviar_AC=149;Kaviar_AN=154602;ExAC_ALL=0.0011;ExAC_AFR=0.0001;ExAC_AMR=0.0003;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0018;ExAC_OTH=0.0033;ExAC_SAS=0.0007;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.013;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=1.915;MutationAssessor_pred=M;FATHMM_score=-0.3;FATHMM_pred=T;PROVEAN_score=-3.31;PROVEAN_pred=D;VEST3_score=0.403;CADD_raw=3.123;CADD_phred=22.6;DANN_score=0.982;fathmm-MKL_coding_score=0.945;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.164;MetaSVM_pred=T;MetaLR_score=0.430;MetaLR_pred=T;integrated_fitCons_score=0.646;integrated_confidence_value=0;GERP++_RS=4.51;phyloP7way_vertebrate=1.058;phyloP20way_mammalian=1.026;phastCons7way_vertebrate=0.096;phastCons20way_mammalian=0.013;SiPhy_29way_logOdds=13.677;GDI_full_10282015=.;dpsi_max_tissue=0.6748;dpsi_zscore=1.292;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0014;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0004;gnomAD_exome_ASJ=0.0220;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0007;gnomAD_exome_OTH=0.0027;gnomAD_exome_SAS=0.0005;gnomAD_genome_ALL=0.0004;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0132;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0005;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . 1:344:0,170 . . . . . . . . . . . . . . . . . . . 1 228505739 rs3795801 G A 196.38 . #_unique_end_positions=,46;#_unique_start_positions=,42;AC=13;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2216;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2435;AN=13;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001092093.2:p.Gly4666Ser|_NP_001258152.2:p.Gly5623Ser|_NP_443075.3:p.Gly4666Ser;Amino_acid_change_in_longest_transcript=,NP_001258152.2:p.Gly5623Ser;BaseQRankSum=,-0.15;CAF_dbsnp_common_v150_hg19_refseq=,0.8269|0.1731|.;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001098623.2:c.13996G>A|_NM_001271223.2:c.16867G>A|_NM_052843.3:c.13996G>A;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.16867G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1518;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1590;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,63;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,OBSCN:84033;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_052843.3|NM_001098623.2|NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5674|rna5673|rna5672;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,228505739;RS_dbsnp_common_v150_hg19_refseq=,3795801;Read_count=,74;Read_coverage=,147;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9945184750879144;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_052843.3|NM_001098623.2|NM_001271223.2;Reverse_read_coverage=,84;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0941;SF=0,1,2,4,5,15,21,22,31,33,35,39;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.792657|0.207343|.;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050100000a0515053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.193878;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.189189;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.134146;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.0882353;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.0909091;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.116279;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.168605;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.216667;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.23;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.188811;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.149425;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.154867;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.0;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_052843.3|Genbank:NM_001098623.2|Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_1|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_2|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_052843.3|NM_001098623.2|NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon53:c.G13996A:p.G4666S,OBSCN:NM_052843:exon53:c.G13996A:p.G4666S,OBSCN:NM_001271223:exon64:c.G16867A:p.G5623S;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.1954;esp6500siv2_ea=0.1735;esp6500siv2_all=0.1954;esp6500siv2_ea=0.1735;1000g2015aug_all=0.173123;avsnp147=rs3795801;Kaviar_AF=0.17992;Kaviar_AC=27816;Kaviar_AN=154602;ExAC_ALL=0.1843;ExAC_AFR=0.2401;ExAC_AMR=0.3194;ExAC_EAS=0.1509;ExAC_FIN=0.1498;ExAC_NFE=0.1804;ExAC_OTH=0.1811;ExAC_SAS=0.1039;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.385;SIFT_pred=T;Polyphen2_HDIV_score=0.002;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.004;Polyphen2_HVAR_pred=B;LRT_score=0.795;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.525;MutationAssessor_pred=N;FATHMM_score=-0.06;FATHMM_pred=T;PROVEAN_score=-1.7;PROVEAN_pred=N;VEST3_score=0.042;CADD_raw=0.313;CADD_phred=5.818;DANN_score=0.750;fathmm-MKL_coding_score=0.005;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.951;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.646;integrated_confidence_value=0;GERP++_RS=-5.37;phyloP7way_vertebrate=-0.913;phyloP20way_mammalian=-1.100;phastCons7way_vertebrate=0.011;phastCons20way_mammalian=0.000;SiPhy_29way_logOdds=20.253;GDI_full_10282015=.;dpsi_max_tissue=-1.2497;dpsi_zscore=-1.603;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1889;gnomAD_exome_AFR=0.2469;gnomAD_exome_AMR=0.3140;gnomAD_exome_ASJ=0.2105;gnomAD_exome_EAS=0.1521;gnomAD_exome_FIN=0.1507;gnomAD_exome_NFE=0.1780;gnomAD_exome_OTH=0.1891;gnomAD_exome_SAS=0.1047;gnomAD_genome_ALL=0.1913;gnomAD_genome_AFR=0.2457;gnomAD_genome_AMR=0.3019;gnomAD_genome_ASJ=0.1821;gnomAD_genome_EAS=0.1361;gnomAD_genome_FIN=0.1618;gnomAD_genome_NFE=0.1681;gnomAD_genome_OTH=0.1670;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:136:0,68 1:216:0,102 1:164:0,91 . 1/1:130:0,130 1:212:0,117 . . . . . . . . . 1:231:0,95 . . . . . 1:191:0,101 1:330:0,157 . . . . . . . . 1:128:0,69 . 1:157:0,86 . 1:183:0,71 . . . 1:239:0,127 . . 1 228506661 rs41305126 G A 200.00 . #_unique_end_positions=,62;#_unique_start_positions=,50;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0015;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0216;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.26;CAF_dbsnp_common_v150_hg19_refseq=,0.9892|0.01078;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001098623.2:c.14208G>A|_NM_001271223.2:c.17079G>A|_NM_052843.3:c.14208G>A;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.17079G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0288;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,179;GENEINFO_dbsnp_common_v150_hg19_refseq=,OBSCN:84033;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_052843.3|NM_001098623.2|NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5674|rna5673|rna5672;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;Non-synonymous=,No;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,228506661;RS_dbsnp_common_v150_hg19_refseq=,41305126;Read_count=,135;Read_coverage=,294;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9967202637674744;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_052843.3|NM_001098623.2|NM_001271223.2;Reverse_read_coverage=,115;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0072;SF=39;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.985197|0.0148029;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050100000305140136000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_052843.3|Genbank:NM_001098623.2|Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_1|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_2|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_052843.3|NM_001098623.2|NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon54:c.G14208A:p.L4736L,OBSCN:NM_052843:exon54:c.G14208A:p.L4736L,OBSCN:NM_001271223:exon65:c.G17079A:p.L5693L;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0169;esp6500siv2_ea=0.0230;esp6500siv2_all=0.0169;esp6500siv2_ea=0.0230;1000g2015aug_all=0.0107827;avsnp147=rs41305126;Kaviar_AF=0.0139196;Kaviar_AC=2152;Kaviar_AN=154602;ExAC_ALL=0.0416;ExAC_AFR=0.0058;ExAC_AMR=0.0401;ExAC_EAS=0;ExAC_FIN=0.0328;ExAC_NFE=0.0592;ExAC_OTH=0.0476;ExAC_SAS=0.0205;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0081;dpsi_zscore=-0.024;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0163;gnomAD_exome_AFR=0.0040;gnomAD_exome_AMR=0.0138;gnomAD_exome_ASJ=0.0361;gnomAD_exome_EAS=8.022e-05;gnomAD_exome_FIN=0.0105;gnomAD_exome_NFE=0.0234;gnomAD_exome_OTH=0.0159;gnomAD_exome_SAS=0.0084;gnomAD_genome_ALL=0.0129;gnomAD_genome_AFR=0.0047;gnomAD_genome_AMR=0.0144;gnomAD_genome_ASJ=0.0331;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0120;gnomAD_genome_NFE=0.0184;gnomAD_genome_OTH=0.0173;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:256:0,116 . . 1 228506912 rs188302055 T C 200.00 . #_unique_end_positions=,31;#_unique_start_positions=,31;AC=2;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0008;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0144;AN=2;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001092093.2:p.Leu4820Pro|_NP_001258152.2:p.Leu5777Pro|_NP_443075.3:p.Leu4820Pro;Amino_acid_change_in_longest_transcript=,NP_001258152.2:p.Leu5777Pro;BaseQRankSum=,0.44;CAF_dbsnp_common_v150_hg19_refseq=,0.9958|0.004193;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001098623.2:c.14459T>C|_NM_001271223.2:c.17330T>C|_NM_052843.3:c.14459T>C;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.17330T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0089;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,47;GENEINFO_dbsnp_common_v150_hg19_refseq=,OBSCN:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_052843.3|NM_001098623.2|NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5674|rna5673|rna5672;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,228506912;RS_dbsnp_common_v150_hg19_refseq=,188302055;Read_count=,47;Read_coverage=,113;Read_direction_test_probability=,0.9994937222076021;Read_position_test_probability=,0.9919358147634438;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_052843.3|NM_001098623.2|NM_001271223.2;Reverse_read_coverage=,66;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;SF=7,27;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.994745|0.00525484;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050000000a05040436000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_052843.3|Genbank:NM_001098623.2|Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_1|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_2|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_052843.3|NM_001098623.2|NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon54:c.T14459C:p.L4820P,OBSCN:NM_052843:exon54:c.T14459C:p.L4820P,OBSCN:NM_001271223:exon65:c.T17330C:p.L5777P;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0072;esp6500siv2_ea=0.0102;esp6500siv2_all=0.0072;esp6500siv2_ea=0.0102;1000g2015aug_all=0.00419329;avsnp147=rs188302055;Kaviar_AF=0.0055174;Kaviar_AC=853;Kaviar_AN=154602;ExAC_ALL=0.0092;ExAC_AFR=0.0024;ExAC_AMR=0.0095;ExAC_EAS=0;ExAC_FIN=0.0046;ExAC_NFE=0.0138;ExAC_OTH=0.0049;ExAC_SAS=0.0027;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.005;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=1.04;MutationAssessor_pred=L;FATHMM_score=-0.35;FATHMM_pred=T;PROVEAN_score=-3.31;PROVEAN_pred=D;VEST3_score=0.581;CADD_raw=5.630;CADD_phred=26.6;DANN_score=0.997;fathmm-MKL_coding_score=0.994;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.373;MetaSVM_pred=T;MetaLR_score=0.342;MetaLR_pred=T;integrated_fitCons_score=0.615;integrated_confidence_value=0;GERP++_RS=4.02;phyloP7way_vertebrate=0.987;phyloP20way_mammalian=0.911;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=0.998;SiPhy_29way_logOdds=13.103;GDI_full_10282015=.;dpsi_max_tissue=-0.0519;dpsi_zscore=-0.274;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0060;gnomAD_exome_AFR=0.0017;gnomAD_exome_AMR=0.0057;gnomAD_exome_ASJ=0.0001;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0017;gnomAD_exome_NFE=0.0102;gnomAD_exome_OTH=0.0059;gnomAD_exome_SAS=0.0023;gnomAD_genome_ALL=0.0057;gnomAD_genome_AFR=0.0026;gnomAD_genome_AMR=0.0119;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0014;gnomAD_genome_NFE=0.0089;gnomAD_genome_OTH=0.0041;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:DP:CLCAD2 . . . . . . . 1:104:0,45 . . . . . . . . . . . . . . . . . . . 1:162:0,83 . . . . . . . . . . . . . . 1 228509367 rs367752269 G A 200.00 . #_unique_end_positions=,72;#_unique_start_positions=,60;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AN=1;Amino_acid_change=,NP_443075.3:p.Arg4942Gln|_NP_001258152.2:p.Arg5899Gln|_NP_001092093.2:p.Arg4942Gln;Amino_acid_change_in_longest_transcript=,NP_001258152.2:p.Arg5899Gln;BaseQRankSum=,0.06;Coding_region_change=,NM_001098623.2:c.14825G>A|_NM_001271223.2:c.17696G>A|_NM_052843.3:c.14825G>A;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.17696G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;Exact_match=,1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,152;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_052843.3|NM_001098623.2|NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5674|rna5673|rna5672;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;Read_count=,179;Read_coverage=,325;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9945732772422994;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_052843.3|NM_001098623.2|NM_001271223.2;Reverse_read_coverage=,173;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=10;conservation_score=,0.996;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_052843.3|Genbank:NM_001098623.2|Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_1|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_2|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_052843.3|NM_001098623.2|NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon55:c.G14825A:p.R4942Q,OBSCN:NM_052843:exon55:c.G14825A:p.R4942Q,OBSCN:NM_001271223:exon66:c.G17696A:p.R5899Q;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;1000g2015aug_all=0.000199681;avsnp147=rs367752269;Kaviar_AF=0.0002005;Kaviar_AC=31;Kaviar_AN=154602;ExAC_ALL=0.0002;ExAC_AFR=0.0002;ExAC_AMR=0.0004;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0003;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.085;SIFT_pred=T;Polyphen2_HDIV_score=0.413;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.07;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.762;MutationTaster_pred=D;MutationAssessor_score=1.665;MutationAssessor_pred=L;FATHMM_score=1.01;FATHMM_pred=T;PROVEAN_score=-1.99;PROVEAN_pred=N;VEST3_score=0.381;CADD_raw=6.644;CADD_phred=32;DANN_score=0.998;fathmm-MKL_coding_score=0.899;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.907;MetaSVM_pred=T;MetaLR_score=0.086;MetaLR_pred=T;integrated_fitCons_score=0.718;integrated_confidence_value=0;GERP++_RS=3.35;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.953;phastCons7way_vertebrate=0.980;phastCons20way_mammalian=0.490;SiPhy_29way_logOdds=10.265;GDI_full_10282015=.;dpsi_max_tissue=0.0208;dpsi_zscore=0.140;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0002;gnomAD_exome_AFR=0.0002;gnomAD_exome_AMR=0.0002;gnomAD_exome_ASJ=0.0003;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0003;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=6.499e-05;gnomAD_genome_ALL=6.459e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0001;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=5 GT:DP:CLCAD2 . . . . . . . . . . 1:293:0,157 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 228509427 rs373610 A G 196.65 . #_unique_end_positions=,66;#_unique_start_positions=,66;AC=55;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.8684;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6758;AN=55;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001258152.2:p.Asp5919Gly|_NP_443075.3:p.Asp4962Gly|_NP_001092093.2:p.Asp4962Gly;Amino_acid_change_in_longest_transcript=,NP_001258152.2:p.Asp5919Gly;BaseQRankSum=,-0.24;CAF_dbsnp_common_v150_hg19_refseq=,0.3153|0.6847;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001098623.2:c.14885A>G|_NM_001271223.2:c.17756A>G|_NM_052843.3:c.14885A>G;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.17756A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7044;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6740;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,91;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,OBSCN:84033;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_052843.3|NM_001098623.2|NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5674|rna5673|rna5672;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,228509427;RS_dbsnp_common_v150_hg19_refseq=,373610;Read_count=,111;Read_coverage=,193;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9787190368524256;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_052843.3|NM_001098623.2|NM_001271223.2;Reverse_read_coverage=,102;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4335;SF=0,1,2,3,4,5,6,7,8,10,11,12,13,14,15,16,18,19,20,21,22,23,24,25,26,27,29,31,32,33,34,35,36,37,38,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.257899|0.742101;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050100000a0517053f000101;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.672414;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.641026;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.603659;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.47093;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.585366;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.719512;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.843023;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.875;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.614943;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.844828;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.826;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_052843.3|Genbank:NM_001098623.2|Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_1|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_2|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_052843.3|NM_001098623.2|NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon55:c.A14885G:p.D4962G,OBSCN:NM_052843:exon55:c.A14885G:p.D4962G,OBSCN:NM_001271223:exon66:c.A17756G:p.D5919G;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.7397;esp6500siv2_ea=0.6968;esp6500siv2_all=0.7397;esp6500siv2_ea=0.6968;1000g2015aug_all=0.684704;avsnp147=rs373610;Kaviar_AF=0.678102;Kaviar_AC=104836;Kaviar_AN=154602;ExAC_ALL=0.6862;ExAC_AFR=0.8257;ExAC_AMR=0.7027;ExAC_EAS=0.6881;ExAC_FIN=0.7721;ExAC_NFE=0.7021;ExAC_OTH=0.6448;ExAC_SAS=0.4946;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.125;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=0.08;MutationAssessor_pred=N;FATHMM_score=-0.27;FATHMM_pred=T;PROVEAN_score=0.49;PROVEAN_pred=N;VEST3_score=0.073;CADD_raw=-0.311;CADD_phred=0.626;DANN_score=0.720;fathmm-MKL_coding_score=0.273;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.006;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.719;integrated_confidence_value=0;GERP++_RS=1.91;phyloP7way_vertebrate=-2.136;phyloP20way_mammalian=-1.014;phastCons7way_vertebrate=0.036;phastCons20way_mammalian=0.036;SiPhy_29way_logOdds=4.77;GDI_full_10282015=.;dpsi_max_tissue=-0.0536;dpsi_zscore=-0.281;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.6860;gnomAD_exome_AFR=0.8249;gnomAD_exome_AMR=0.7096;gnomAD_exome_ASJ=0.6381;gnomAD_exome_EAS=0.6892;gnomAD_exome_FIN=0.7701;gnomAD_exome_NFE=0.6995;gnomAD_exome_OTH=0.6774;gnomAD_exome_SAS=0.4964;gnomAD_genome_ALL=0.7495;gnomAD_genome_AFR=0.8238;gnomAD_genome_AMR=0.7124;gnomAD_genome_ASJ=0.6424;gnomAD_genome_EAS=0.6693;gnomAD_genome_FIN=0.7814;gnomAD_genome_NFE=0.7147;gnomAD_genome_OTH=0.7026;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:173:0,101 1/1:316:0,316 1/1:272:0,272 1:266:0,129 1/1:190:0,190 1/1:325:0,325 1:205:0,95 1/1:266:0,266 1:277:0,126 . 1:322:0,167 1/1:260:0,260 1:335:0,159 1/1:293:0,293 1:387:0,170 1:282:0,135 1:275:0,113 . 1/1:252:0,252 1:247:0,109 1/1:271:0,271 1/1:285:0,285 1:455:0,246 1:377:0,180 1/1:343:0,343 1:241:0,103 1/1:287:0,287 1:308:0,137 . 1:328:0,145 . 1/1:190:0,190 1/1:279:0,279 1:237:0,115 1:293:0,135 1/1:267:0,267 1/1:237:0,237 1/1:210:0,210 1:219:0,100 1:284:0,139 1:280:0,140 1:234:0,106 1 228520973 rs369909 C G 194.05 . #_unique_end_positions=,34;#_unique_start_positions=,38;AC=36;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4183;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3847;AN=36;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001258152.2:p.Leu6226Val|_NP_001092093.2:p.Leu5269Val|_NP_443075.3:p.Leu5269Val;Amino_acid_change_in_longest_transcript=,NP_001258152.2:p.Leu6226Val;BaseQRankSum=,0.15;CAF_dbsnp_common_v150_hg19_refseq=,0.6649|0.3351;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001098623.2:c.15805C>G|_NM_001271223.2:c.18676C>G|_NM_052843.3:c.15805C>G;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.18676C>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2490;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4205;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,80;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,OBSCN:84033;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,C/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_052843.3|NM_001098623.2|NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5674|rna5673|rna5672;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,228520973;RS_dbsnp_common_v150_hg19_refseq=,369909;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,66;Read_coverage=,145;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.8950584307291399;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_052843.3|NM_001098623.2|NM_001271223.2;Reverse_read_coverage=,65;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1881;SF=1,2,3,6,7,8,11,12,13,14,16,18,20,21,23,24,25,26,27,29,32,34,35,36,37,38,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.609974|0.390026;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050100000a0517053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.4;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.1;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.329545;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.408333;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.982;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_052843.3|Genbank:NM_001098623.2|Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_1|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_2|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_052843.3|NM_001098623.2|NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon58:c.C15805G:p.L5269V,OBSCN:NM_052843:exon58:c.C15805G:p.L5269V,OBSCN:NM_001271223:exon69:c.C18676G:p.L6226V;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.3947;esp6500siv2_ea=0.4179;esp6500siv2_all=0.3947;esp6500siv2_ea=0.4179;1000g2015aug_all=0.335064;avsnp147=rs369909;Kaviar_AF=0.282719;Kaviar_AC=43709;Kaviar_AN=154602;ExAC_ALL=0.3938;ExAC_AFR=0.4039;ExAC_AMR=0.3805;ExAC_EAS=0.2645;ExAC_FIN=0.5105;ExAC_NFE=0.4651;ExAC_OTH=0.3388;ExAC_SAS=0.2627;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.49;SIFT_pred=T;Polyphen2_HDIV_score=0.046;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.038;Polyphen2_HVAR_pred=B;LRT_score=0.007;LRT_pred=N;MutationTaster_score=0.984;MutationTaster_pred=P;MutationAssessor_score=0.385;MutationAssessor_pred=N;FATHMM_score=-0.04;FATHMM_pred=T;PROVEAN_score=-0.52;PROVEAN_pred=N;VEST3_score=0.137;CADD_raw=1.995;CADD_phred=16.18;DANN_score=0.992;fathmm-MKL_coding_score=0.727;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.973;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.696;integrated_confidence_value=0;GERP++_RS=2.01;phyloP7way_vertebrate=-0.058;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.992;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=7.164;GDI_full_10282015=.;dpsi_max_tissue=0.1483;dpsi_zscore=0.612;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3597;gnomAD_exome_AFR=0.3557;gnomAD_exome_AMR=0.3367;gnomAD_exome_ASJ=0.3527;gnomAD_exome_EAS=0.1960;gnomAD_exome_FIN=0.4587;gnomAD_exome_NFE=0.4187;gnomAD_exome_OTH=0.3667;gnomAD_exome_SAS=0.2380;gnomAD_genome_ALL=0.4114;gnomAD_genome_AFR=0.3734;gnomAD_genome_AMR=0.3544;gnomAD_genome_ASJ=0.35;gnomAD_genome_EAS=0.2056;gnomAD_genome_FIN=0.4644;gnomAD_genome_NFE=0.4485;gnomAD_genome_OTH=0.4033;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . 1:117:0,53 1:139:0,76 1:132:0,75 . . 1:112:0,61 1/1:126:0,126 1:134:0,66 . . 1/1:144:0,144 1:182:0,82 1/1:134:0,134 1:205:0,92 . 1:180:0,76 . 1/1:129:0,129 . 1/1:119:0,119 1:197:0,77 . 1:184:0,92 1/1:179:0,179 1:112:0,52 1/1:130:0,130 1:187:0,84 . 1:167:0,86 . . 1:148:0,88 . 1:151:0,69 1:147:0,67 1:101:0,36 1/1:87:0,87 1:138:0,61 . 1:146:0,73 1:112:0,55 1 228520995 rs56015866 G A 200.00 . #_unique_end_positions=,31;#_unique_start_positions=,28;AC=2;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0008;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0144;AN=2;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_443075.3:p.Arg5276His|_NP_001258152.2:p.Arg6233His|_NP_001092093.2:p.Arg5276His;Amino_acid_change_in_longest_transcript=,NP_001258152.2:p.Arg6233His;BaseQRankSum=,-0.2;CAF_dbsnp_common_v150_hg19_refseq=,0.9958|0.004193;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001098623.2:c.15827G>A|_NM_001271223.2:c.18698G>A|_NM_052843.3:c.15827G>A;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.18698G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0089;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,78;GENEINFO_dbsnp_common_v150_hg19_refseq=,OBSCN:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_052843.3|NM_001098623.2|NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5674|rna5673|rna5672;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,228520995;RS_dbsnp_common_v150_hg19_refseq=,56015866;Read_count=,45;Read_coverage=,137;Read_direction_test_probability=,0.49482182286374965;Read_position_test_probability=,0.8910068446573449;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_052843.3|NM_001098623.2|NM_001271223.2;Reverse_read_coverage=,59;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;SF=7,27;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.994711|0.00528919;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050000000a05040436000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.997;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_052843.3|Genbank:NM_001098623.2|Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_1|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_2|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_052843.3|NM_001098623.2|NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon58:c.G15827A:p.R5276H,OBSCN:NM_052843:exon58:c.G15827A:p.R5276H,OBSCN:NM_001271223:exon69:c.G18698A:p.R6233H;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0069;esp6500siv2_ea=0.0098;esp6500siv2_all=0.0069;esp6500siv2_ea=0.0098;1000g2015aug_all=0.00419329;avsnp147=rs56015866;Kaviar_AF=0.0041009;Kaviar_AC=634;Kaviar_AN=154602;ExAC_ALL=0.0077;ExAC_AFR=0.0030;ExAC_AMR=0.0108;ExAC_EAS=0;ExAC_FIN=0.0057;ExAC_NFE=0.0127;ExAC_OTH=0;ExAC_SAS=0.0027;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.124;SIFT_pred=T;Polyphen2_HDIV_score=0.068;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.028;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_pred=D;MutationTaster_score=0.913;MutationTaster_pred=N;MutationAssessor_score=1.77;MutationAssessor_pred=L;FATHMM_score=0.98;FATHMM_pred=T;PROVEAN_score=-2.22;PROVEAN_pred=N;VEST3_score=0.15;CADD_raw=4.051;CADD_phred=23.7;DANN_score=0.997;fathmm-MKL_coding_score=0.544;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.041;MetaSVM_pred=T;MetaLR_score=0.055;MetaLR_pred=T;integrated_fitCons_score=0.696;integrated_confidence_value=0;GERP++_RS=2.24;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=-0.719;phastCons7way_vertebrate=0.989;phastCons20way_mammalian=0.840;SiPhy_29way_logOdds=1.597;GDI_full_10282015=.;dpsi_max_tissue=-0.0788;dpsi_zscore=-0.381;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0054;gnomAD_exome_AFR=0.0020;gnomAD_exome_AMR=0.0053;gnomAD_exome_ASJ=0.0001;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0013;gnomAD_exome_NFE=0.0100;gnomAD_exome_OTH=0.0062;gnomAD_exome_SAS=0.0021;gnomAD_genome_ALL=0.0057;gnomAD_genome_AFR=0.0027;gnomAD_genome_AMR=0.0119;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0014;gnomAD_genome_NFE=0.0088;gnomAD_genome_OTH=0.0041;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . 1:120:0,42 . . . . . . . . . . . . . . . . . . . 1:184:0,79 . . . . . . . . . . . . . . 1 228524961 rs3795808 C A 195.45 . #_unique_end_positions=,58;#_unique_start_positions=,45;AC=35;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0575;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3458;AN=35;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.14;CAF_dbsnp_common_v150_hg19_refseq=,0.7602|0.2398|.;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001098623.2:c.16677C>A|_NM_001271223.2:c.19548C>A|_NM_052843.3:c.16677C>A;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.19548C>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2500;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4185;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,79;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,OBSCN:84033;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,A/C;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_052843.3|NM_001098623.2|NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5674|rna5673|rna5672;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;Non-synonymous=,No;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,228524961;RS_dbsnp_common_v150_hg19_refseq=,3795808;Read_count=,86;Read_coverage=,172;Read_direction_test_probability=,0.9474650261960038;Read_position_test_probability=,0.94304253760613;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_052843.3|NM_001098623.2|NM_001271223.2;Reverse_read_coverage=,93;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2168;SF=1,2,3,6,7,8,11,12,13,14,16,18,20,21,23,24,25,26,27,29,32,34,35,36,37,38,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.733583|0.266417|.;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05010000030515053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.40678;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.1;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.329545;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0416667;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.795;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_052843.3|Genbank:NM_001098623.2|Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_1|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_2|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_052843.3|NM_001098623.2|NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon66:c.C16677A:p.P5559P,OBSCN:NM_052843:exon66:c.C16677A:p.P5559P,OBSCN:NM_001271223:exon77:c.C19548A:p.P6516P;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.3155;esp6500siv2_ea=0.4226;esp6500siv2_all=0.3155;esp6500siv2_ea=0.4226;1000g2015aug_all=0.239816;avsnp147=rs3795808;Kaviar_AF=0.346296;Kaviar_AC=53538;Kaviar_AN=154602;ExAC_ALL=0.3570;ExAC_AFR=0.0981;ExAC_AMR=0.3123;ExAC_EAS=0.2149;ExAC_FIN=0.4710;ExAC_NFE=0.4306;ExAC_OTH=0.3486;ExAC_SAS=0.2670;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.2025;dpsi_zscore=-0.692;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3534;gnomAD_exome_AFR=0.0903;gnomAD_exome_AMR=0.3173;gnomAD_exome_ASJ=0.3429;gnomAD_exome_EAS=0.2037;gnomAD_exome_FIN=0.4626;gnomAD_exome_NFE=0.4274;gnomAD_exome_OTH=0.3712;gnomAD_exome_SAS=0.2623;gnomAD_genome_ALL=0.3343;gnomAD_genome_AFR=0.1040;gnomAD_genome_AMR=0.3381;gnomAD_genome_ASJ=0.3377;gnomAD_genome_EAS=0.2038;gnomAD_genome_FIN=0.4653;gnomAD_genome_NFE=0.4482;gnomAD_genome_OTH=0.3898;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . 1:160:0,79 1:155:0,71 1:157:0,88 . . 1:172:0,76 1/1:176:0,176 1:189:0,76 . . 1/1:180:0,180 1:216:0,108 1/1:156:0,156 1:310:0,150 . 1:228:0,93 . 1/1:204:0,204 . 1/1:154:0,154 1:232:0,98 . 1:235:0,104 1/1:190:0,188 1:172:0,82 1/1:155:0,155 1:250:0,107 . 1:261:0,121 . . 1:185:0,89 . 1:201:0,86 1:163:0,77 1:174:0,69 1:100:0,48 1:167:0,76 . 1:187:0,108 1:153:0,74 1 228525008 rs3795809 G A 200.00 . #_unique_end_positions=,37;#_unique_start_positions=,34;AC=11;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0189;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1744;AN=11;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_443075.3:p.Arg5575His|_NP_001258152.2:p.Arg6532His|_NP_001092093.2:p.Arg5575His;Amino_acid_change_in_longest_transcript=,NP_001258152.2:p.Arg6532His;BaseQRankSum=,-0.16;CAF_dbsnp_common_v150_hg19_refseq=,0.9233|0.07668;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001098623.2:c.16724G>A|_NM_001271223.2:c.19595G>A|_NM_052843.3:c.16724G>A;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.19595G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0556;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1252;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,44;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,OBSCN:84033;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_052843.3|NM_001098623.2|NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5674|rna5673|rna5672;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,228525008;RS_dbsnp_common_v150_hg19_refseq=,3795809;Read_count=,56;Read_coverage=,92;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.976908842626995;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_052843.3|NM_001098623.2|NM_001271223.2;Reverse_read_coverage=,48;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0573;SF=0,1,2,4,5,15,21,22,31,35,39;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.907886|0.0921143;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050100000a05150537000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.0520833;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.166667;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.0731707;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.0357143;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.0625;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0357143;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0930233;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.011236;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.153061;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.027972;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.119318;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.00909091;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.858;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_052843.3|Genbank:NM_001098623.2|Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_1|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_2|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_052843.3|NM_001098623.2|NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon66:c.G16724A:p.R5575H,OBSCN:NM_052843:exon66:c.G16724A:p.R5575H,OBSCN:NM_001271223:exon77:c.G19595A:p.R6532H;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.1026;esp6500siv2_ea=0.1356;esp6500siv2_all=0.1026;esp6500siv2_ea=0.1356;1000g2015aug_all=0.0766773;avsnp147=rs3795809;Kaviar_AF=0.117198;Kaviar_AC=18119;Kaviar_AN=154602;ExAC_ALL=0.1335;ExAC_AFR=0.0349;ExAC_AMR=0.2661;ExAC_EAS=0.0736;ExAC_FIN=0.1100;ExAC_NFE=0.1499;ExAC_OTH=0.1473;ExAC_SAS=0.0755;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.071;SIFT_pred=T;Polyphen2_HDIV_score=0.545;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.049;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_pred=N;MutationTaster_score=0.689;MutationTaster_pred=P;MutationAssessor_score=1.39;MutationAssessor_pred=L;FATHMM_score=1.31;FATHMM_pred=T;PROVEAN_score=-2.73;PROVEAN_pred=D;VEST3_score=0.422;CADD_raw=4.879;CADD_phred=24.9;DANN_score=0.988;fathmm-MKL_coding_score=0.947;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.055;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.718;integrated_confidence_value=0;GERP++_RS=4.37;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.990;phastCons20way_mammalian=0.003;SiPhy_29way_logOdds=17.467;GDI_full_10282015=.;dpsi_max_tissue=0.0970;dpsi_zscore=0.474;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1311;gnomAD_exome_AFR=0.0329;gnomAD_exome_AMR=0.2463;gnomAD_exome_ASJ=0.1551;gnomAD_exome_EAS=0.0687;gnomAD_exome_FIN=0.0978;gnomAD_exome_NFE=0.1403;gnomAD_exome_OTH=0.1335;gnomAD_exome_SAS=0.0720;gnomAD_genome_ALL=0.0994;gnomAD_genome_AFR=0.0351;gnomAD_genome_AMR=0.2266;gnomAD_genome_ASJ=0.1424;gnomAD_genome_EAS=0.0617;gnomAD_genome_FIN=0.1051;gnomAD_genome_NFE=0.1305;gnomAD_genome_OTH=0.1173;Whole_Blood=Whole_Blood::0.140921::0.172925;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:80:0,47 1:142:0,62 1:148:0,78 . 1:136:0,58 1:156:0,59 . . . . . . . . . 1:182:0,79 . . . . . 1:209:0,116 1:259:0,114 . . . . . . . . 1:92:0,49 . . . 1:141:0,73 . . . 1:204:0,88 . . 1 228526011 rs11577699 C T 183.49 . #_unique_end_positions=,13;#_unique_start_positions=,14;AC=12;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1006;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1916;AN=12;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.15;CAF_dbsnp_common_v150_hg19_refseq=,0.8824|0.1176;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001098623.2:c.17022C>T|_NM_001271223.2:c.19893C>T|_NM_052843.3:c.17022C>T;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.19893C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1091;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1372;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,24;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,OBSCN:84033;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_052843.3|NM_001098623.2|NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5674|rna5673|rna5672;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;Non-synonymous=,No;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,58.84392844509976;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,228526011;RS_dbsnp_common_v150_hg19_refseq=,11577699;Read_count=,17;Read_coverage=,58;Read_direction_test_probability=,0.8639853225003675;Read_position_test_probability=,0.8758636595417032;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_052843.3|NM_001098623.2|NM_001271223.2;Reverse_read_coverage=,34;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0767;SF=0,1,2,4,5,15,22,31,33,35,39;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.852384|0.147616;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05010000030517053e000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.0;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_052843.3|Genbank:NM_001098623.2|Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_1|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_2|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_052843.3|NM_001098623.2|NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon68:c.C17022T:p.A5674A,OBSCN:NM_052843:exon68:c.C17022T:p.A5674A,OBSCN:NM_001271223:exon79:c.C19893T:p.A6631A;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.1516;esp6500siv2_ea=0.1578;esp6500siv2_all=0.1516;esp6500siv2_ea=0.1578;1000g2015aug_all=0.117612;avsnp147=rs11577699;Kaviar_AF=0.130121;Kaviar_AC=20117;Kaviar_AN=154602;ExAC_ALL=0.1635;ExAC_AFR=0.1410;ExAC_AMR=0.2789;ExAC_EAS=0.1155;ExAC_FIN=0.1421;ExAC_NFE=0.1745;ExAC_OTH=0.1747;ExAC_SAS=0.0940;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.2557;dpsi_zscore=0.822;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1454;gnomAD_exome_AFR=0.1191;gnomAD_exome_AMR=0.2455;gnomAD_exome_ASJ=0.1509;gnomAD_exome_EAS=0.1012;gnomAD_exome_FIN=0.1139;gnomAD_exome_NFE=0.1490;gnomAD_exome_OTH=0.1513;gnomAD_exome_SAS=0.0821;gnomAD_genome_ALL=0.1460;gnomAD_genome_AFR=0.1371;gnomAD_genome_AMR=0.2416;gnomAD_genome_ASJ=0.1433;gnomAD_genome_EAS=0.1005;gnomAD_genome_FIN=0.1317;gnomAD_genome_NFE=0.1545;gnomAD_genome_OTH=0.1414;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:52:0,15 1:115:0,59 1:100:0,47 . 1/1:83:0,83 1:94:0,50 . . . . . . . . . 1:118:0,73 . . . . . . 1:128:0,64 . . . . . . . . 1:70:0,39 . 1:84:0,40 . 1:90:0,42 . . . 1:106:0,56 . . 1 228526614 . G A 200.00 . #_unique_end_positions=,63;#_unique_start_positions=,56;AC=1;AN=1;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.24;Coding_region_change=,NM_001098623.2:c.17145G>A|_NM_001271223.2:c.20016G>A|_NM_052843.3:c.17145G>A;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.20016G>A;Forward_read_coverage=,183;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_052843.3|NM_001098623.2|NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5674|rna5673|rna5672;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;Non-synonymous=,No;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;Read_count=,134;Read_coverage=,263;Read_direction_test_probability=,0.9548516711001165;Read_position_test_probability=,0.49006470021539406;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_052843.3|NM_001098623.2|NM_001271223.2;Reverse_read_coverage=,80;SF=10;conservation_score=,1.0;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_052843.3|Genbank:NM_001098623.2|Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_1|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_2|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_052843.3|NM_001098623.2|NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon69:c.G17145A:p.L5715L,OBSCN:NM_052843:exon69:c.G17145A:p.L5715L,OBSCN:NM_001271223:exon80:c.G20016A:p.L6672L;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0005;esp6500siv2_ea=0.0007;esp6500siv2_all=0.0005;esp6500siv2_ea=0.0007;1000g2015aug_all=.;avsnp147=rs373530679;Kaviar_AF=0.0002781;Kaviar_AC=43;Kaviar_AN=154602;ExAC_ALL=0.0005;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0013;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.4389;dpsi_zscore=1.067;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0006;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0003;gnomAD_exome_ASJ=0.0030;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0009;gnomAD_exome_OTH=0.0005;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0004;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0007;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:DP:CLCAD2 . . . . . . . . . . 1:234:0,114 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 228526665 rs505629 T C 197.40 . #_unique_end_positions=,49;#_unique_start_positions=,44;AC=42;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5522;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4294;AN=42;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.24;CAF_dbsnp_common_v150_hg19_refseq=,0.5056|0.4944;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001098623.2:c.17196T>C|_NM_001271223.2:c.20067T>C|_NM_052843.3:c.17196T>C;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.20067T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5665;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5209;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,126;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,OBSCN:84033;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_052843.3|NM_001098623.2|NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5674|rna5673|rna5672;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;Non-synonymous=,No;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,228526665;RS_dbsnp_common_v150_hg19_refseq=,505629;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,98;Read_coverage=,210;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9989388177621835;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_052843.3|NM_001098623.2|NM_001271223.2;Reverse_read_coverage=,84;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3609;SF=1,2,3,5,6,7,8,10,11,12,13,14,15,16,18,19,20,21,23,24,25,26,27,29,31,32,34,35,36,37,38,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.49478|0.50522;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05010000030517053e000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.0;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_052843.3|Genbank:NM_001098623.2|Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_1|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_2|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_052843.3|NM_001098623.2|NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon69:c.T17196C:p.A5732A,OBSCN:NM_052843:exon69:c.T17196C:p.A5732A,OBSCN:NM_001271223:exon80:c.T20067C:p.A6689A;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.5554;esp6500siv2_ea=0.5569;esp6500siv2_all=0.5554;esp6500siv2_ea=0.5569;1000g2015aug_all=0.494409;avsnp147=rs505629;Kaviar_AF=0.214577;Kaviar_AC=33174;Kaviar_AN=154602;ExAC_ALL=0.4897;ExAC_AFR=0.5232;ExAC_AMR=0.4073;ExAC_EAS=0.6021;ExAC_FIN=0.7303;ExAC_NFE=0.5318;ExAC_OTH=0.4111;ExAC_SAS=0.4261;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.3719;dpsi_zscore=-0.950;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.4856;gnomAD_exome_AFR=0.5031;gnomAD_exome_AMR=0.3851;gnomAD_exome_ASJ=0.4227;gnomAD_exome_EAS=0.5470;gnomAD_exome_FIN=0.6421;gnomAD_exome_NFE=0.5179;gnomAD_exome_OTH=0.4652;gnomAD_exome_SAS=0.3991;gnomAD_genome_ALL=0.5405;gnomAD_genome_AFR=0.5105;gnomAD_genome_AMR=0.4057;gnomAD_genome_ASJ=0.4437;gnomAD_genome_EAS=0.5286;gnomAD_genome_FIN=0.6411;gnomAD_genome_NFE=0.5447;gnomAD_genome_OTH=0.5503;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . 1:184:0,89 1:131:0,70 1:177:0,81 . 1:185:0,86 1:128:0,54 1/1:139:0,139 1:178:0,93 . 1:236:0,108 1/1:208:0,208 1:205:0,69 1/1:186:0,186 1:326:0,143 1:196:0,93 1:232:0,116 . 1/1:129:0,129 1:178:0,85 1/1:208:0,208 1:234:0,107 . 1:229:0,83 1/1:227:0,227 1:169:0,84 1/1:149:0,149 1:229:0,101 . 1:232:0,113 . 1:159:0,88 1/1:179:0,179 . 1:177:0,74 1:169:0,76 1/1:192:0,192 1:125:0,57 1:176:0,75 . 1:209:0,116 1:142:0,73 1 228528563 rs1188710 C G 194.94 . #_unique_end_positions=,48;#_unique_start_positions=,43;AC=41;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6679;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4654;AN=41;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_443075.3:p.Gln5891Glu|_NP_001092093.2:p.Gln5891Glu|_NP_001258152.2:p.Gln6848Glu;Amino_acid_change_in_longest_transcript=,NP_001258152.2:p.Gln6848Glu;BaseQRankSum=,-0.01;CAF_dbsnp_common_v150_hg19_refseq=,0.4613|0.5387;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001098623.2:c.17671C>G|_NM_001271223.2:c.20542C>G|_NM_052843.3:c.17671C>G;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.20542C>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5942;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5229;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,101;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,OBSCN:84033;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,C/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_052843.3|NM_001098623.2|NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5674|rna5673|rna5672;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,228528563;RS_dbsnp_common_v150_hg19_refseq=,1188710;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,100;Read_coverage=,211;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.95037800719117;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_052843.3|NM_001098623.2|NM_001271223.2;Reverse_read_coverage=,110;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3753;SF=1,2,3,5,6,7,8,10,11,12,13,14,16,18,19,20,21,23,24,25,26,27,29,31,32,34,35,36,37,38,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.451848|0.548152;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050100000a0517053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.465517;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.544444;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.625;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.661017;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_052843.3|Genbank:NM_001098623.2|Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_1|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_2|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_052843.3|NM_001098623.2|NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon72:c.C17671G:p.Q5891E,OBSCN:NM_052843:exon72:c.C17671G:p.Q5891E,OBSCN:NM_001271223:exon83:c.C20542G:p.Q6848E;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.5488;esp6500siv2_ea=0.5203;esp6500siv2_all=0.5488;esp6500siv2_ea=0.5203;1000g2015aug_all=0.538738;avsnp147=rs1188710;Kaviar_AF=0.464489;Kaviar_AC=71811;Kaviar_AN=154602;ExAC_ALL=0.5468;ExAC_AFR=0.6367;ExAC_AMR=0.48;ExAC_EAS=0.6102;ExAC_FIN=0.6691;ExAC_NFE=0.5577;ExAC_OTH=0.5109;ExAC_SAS=0.4379;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-1.735;MutationAssessor_pred=N;FATHMM_score=2.86;FATHMM_pred=T;PROVEAN_score=1.76;PROVEAN_pred=N;VEST3_score=0.227;CADD_raw=0.194;CADD_phred=4.616;DANN_score=0.904;fathmm-MKL_coding_score=0.259;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.947;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.696;integrated_confidence_value=0;GERP++_RS=4.12;phyloP7way_vertebrate=0.028;phyloP20way_mammalian=-0.274;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=0.593;SiPhy_29way_logOdds=14.134;GDI_full_10282015=.;dpsi_max_tissue=0.6652;dpsi_zscore=1.284;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.5075;gnomAD_exome_AFR=0.5969;gnomAD_exome_AMR=0.4328;gnomAD_exome_ASJ=0.4296;gnomAD_exome_EAS=0.5750;gnomAD_exome_FIN=0.6419;gnomAD_exome_NFE=0.5185;gnomAD_exome_OTH=0.4906;gnomAD_exome_SAS=0.4122;gnomAD_genome_ALL=0.5708;gnomAD_genome_AFR=0.6004;gnomAD_genome_AMR=0.4532;gnomAD_genome_ASJ=0.4636;gnomAD_genome_EAS=0.5676;gnomAD_genome_FIN=0.6428;gnomAD_genome_NFE=0.5473;gnomAD_genome_OTH=0.5491;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . 1:190:0,91 1:190:0,102 1:190:0,69 . 1:216:0,105 1:143:0,81 1/1:169:0,169 1:227:0,96 . 1:237:0,118 1/1:192:0,192 1:193:0,108 1/1:208:0,208 1:297:0,148 . 1:224:0,104 . 1/1:162:0,162 1:177:0,82 1/1:188:0,188 1:219:0,112 . 1:308:0,127 1/1:258:0,258 1:182:0,97 1/1:243:0,243 1:308:0,143 . 1:249:0,124 . 1:133:0,55 1/1:194:0,194 . 1:207:0,73 1:230:0,118 1/1:159:0,159 1:140:0,73 1:180:0,75 . 1:208:0,104 1:158:0,76 1 228547901 rs12035900 C T 198.38 . #_unique_end_positions=,48;#_unique_start_positions=,39;AC=29;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1142;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3112;AN=29;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.06;CAF_dbsnp_common_v150_hg19_refseq=,0.7013|0.2987;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001098623.2:c.18662-2376C>T|_NM_001271223.2:c.21533-2376C>T|_NM_052843.3:c.19308C>T;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.21533-2376C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2669;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3280;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,78;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,OBSCN:84033;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_052843.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5674;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;Non-synonymous=,No;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,228547901;RS_dbsnp_common_v150_hg19_refseq=,12035900;Read_count=,66;Read_coverage=,151;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.8466266578718352;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_052843.3;Reverse_read_coverage=,73;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5419;SF=0,3,6,8,9,10,12,14,15,16,17,19,22,23,25,27,28,29,30,33,34,38,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.749004|0.250996;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05010008030517053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.163265;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.367257;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.329268;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.364706;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.517045;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.360465;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.209302;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.122222;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.33;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.111888;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.392045;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.150442;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.0;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_052843.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_1;transcript_id=,NM_052843.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_052843:exon81:c.C19308T:p.D6436D;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.2535;esp6500siv2_ea=0.3011;esp6500siv2_all=0.2535;esp6500siv2_ea=0.3011;1000g2015aug_all=0.298722;avsnp147=rs12035900;Kaviar_AF=0.303088;Kaviar_AC=46858;Kaviar_AN=154602;ExAC_ALL=0.3126;ExAC_AFR=0.1635;ExAC_AMR=0.3209;ExAC_EAS=0.2866;ExAC_FIN=0.2343;ExAC_NFE=0.2981;ExAC_OTH=0.3509;ExAC_SAS=0.4932;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3116;gnomAD_exome_AFR=0.1610;gnomAD_exome_AMR=0.3073;gnomAD_exome_ASJ=0.3537;gnomAD_exome_EAS=0.2860;gnomAD_exome_FIN=0.2291;gnomAD_exome_NFE=0.2996;gnomAD_exome_OTH=0.3208;gnomAD_exome_SAS=0.4928;gnomAD_genome_ALL=0.2446;gnomAD_genome_AFR=0.1590;gnomAD_genome_AMR=0.2864;gnomAD_genome_ASJ=0.3477;gnomAD_genome_EAS=0.3151;gnomAD_genome_FIN=0.2196;gnomAD_genome_NFE=0.2846;gnomAD_genome_OTH=0.3002;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:135:0,61 . . 1:243:0,110 . . 1:167:0,81 . 1:308:0,146 1/1:230:0,230 1:344:0,174 . 1:318:0,146 . 1:455:0,221 1:288:0,142 1:262:0,132 1/1:281:0,281 . 1:226:0,87 . . 1:344:0,156 1:339:0,158 . 1:246:0,107 . 1:342:0,152 1/1:324:0,324 1:300:0,135 1/1:226:0,226 . . 1:215:0,106 1:278:0,130 . . . 1:226:0,114 1:296:0,133 1:239:0,114 1:184:0,73 1 228548197 rs10158354 G A 200.00 . #_unique_end_positions=,61;#_unique_start_positions=,58;AC=6;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0832;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0764;AN=6;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_443075.3:p.Arg6535His;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.82;CAF_dbsnp_common_v150_hg19_refseq=,0.8522|0.1478;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001098623.2:c.18662-2080G>A|_NM_001271223.2:c.21533-2080G>A|_NM_052843.3:c.19604G>A;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.21533-2080G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3284;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0984;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,158;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,OBSCN:84033;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_052843.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5674;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,228548197;RS_dbsnp_common_v150_hg19_refseq=,10158354;Read_count=,137;Read_coverage=,297;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.5860287277754228;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_052843.3;Reverse_read_coverage=,139;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1503;SF=5,10,19,31,32,36;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.902631|0.0973691;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050100080a05170536000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.0;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_052843.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_1;transcript_id=,NM_052843.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_052843:exon81:c.G19604A:p.R6535H;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0899;esp6500siv2_ea=0.0857;esp6500siv2_all=0.0899;esp6500siv2_ea=0.0857;1000g2015aug_all=0.147764;avsnp147=rs10158354;Kaviar_AF=0.114714;Kaviar_AC=17735;Kaviar_AN=154602;ExAC_ALL=0.1311;ExAC_AFR=0.1011;ExAC_AMR=0.1034;ExAC_EAS=0.3591;ExAC_FIN=0.1943;ExAC_NFE=0.0996;ExAC_OTH=0.1326;ExAC_SAS=0.1489;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.186;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.345;MutationAssessor_pred=N;FATHMM_score=0.44;FATHMM_pred=T;PROVEAN_score=0.68;PROVEAN_pred=N;VEST3_score=0.016;CADD_raw=-0.089;CADD_phred=1.814;DANN_score=0.881;fathmm-MKL_coding_score=0.025;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.996;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.718;integrated_confidence_value=0;GERP++_RS=-5.62;phyloP7way_vertebrate=-0.084;phyloP20way_mammalian=-0.065;phastCons7way_vertebrate=0.002;phastCons20way_mammalian=0.000;SiPhy_29way_logOdds=5.825;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1226;gnomAD_exome_AFR=0.0913;gnomAD_exome_AMR=0.0923;gnomAD_exome_ASJ=0.0699;gnomAD_exome_EAS=0.3496;gnomAD_exome_FIN=0.1814;gnomAD_exome_NFE=0.0907;gnomAD_exome_OTH=0.1035;gnomAD_exome_SAS=0.1418;gnomAD_genome_ALL=0.1181;gnomAD_genome_AFR=0.0925;gnomAD_genome_AMR=0.0907;gnomAD_genome_ASJ=0.0927;gnomAD_genome_EAS=0.3375;gnomAD_genome_FIN=0.1769;gnomAD_genome_NFE=0.0958;gnomAD_genome_OTH=0.1458;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . 1:276:0,129 . . . . 1:331:0,137 . . . . . . . . 1:246:0,127 . . . . . . . . . . . 1:180:0,79 1:270:0,132 . . . 1:197:0,99 . . . . . 1 228548360 rs141233508 G A 200.00 . #_unique_end_positions=,77;#_unique_start_positions=,74;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0014;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.52;CAF_dbsnp_common_v150_hg19_refseq=,0.998|0.001997;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001098623.2:c.18662-1917G>A|_NM_001271223.2:c.21533-1917G>A|_NM_052843.3:c.19767G>A;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.21533-1917G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0089;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,200;GENEINFO_dbsnp_common_v150_hg19_refseq=,OBSCN:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_052843.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5674;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;Non-synonymous=,No;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,228548360;RS_dbsnp_common_v150_hg19_refseq=,141233508;Read_count=,202;Read_coverage=,432;Read_direction_test_probability=,0.950943978616357;Read_position_test_probability=,0.5667118635108986;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_052843.3;Reverse_read_coverage=,232;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=22;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.997493|0.00250721;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050000080305040036000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.647;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_052843.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_1;transcript_id=,NM_052843.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_052843:exon81:c.G19767A:p.E6589E;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0040;esp6500siv2_ea=0.0055;esp6500siv2_all=0.0040;esp6500siv2_ea=0.0055;1000g2015aug_all=0.00199681;avsnp147=rs141233508;Kaviar_AF=0.0032212;Kaviar_AC=498;Kaviar_AN=154602;ExAC_ALL=0.0034;ExAC_AFR=0.0011;ExAC_AMR=0.0047;ExAC_EAS=0.0001;ExAC_FIN=0.0016;ExAC_NFE=0.0047;ExAC_OTH=0.0053;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0033;gnomAD_exome_AFR=0.0011;gnomAD_exome_AMR=0.0049;gnomAD_exome_ASJ=0.0034;gnomAD_exome_EAS=6.11e-05;gnomAD_exome_FIN=0.0018;gnomAD_exome_NFE=0.0047;gnomAD_exome_OTH=0.0053;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0034;gnomAD_genome_AFR=0.0010;gnomAD_genome_AMR=0.0048;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0011;gnomAD_genome_NFE=0.0054;gnomAD_genome_OTH=0.0061;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . 1:387:0,177 . . . . . . . . . . . . . . . . . . . 1 228550344 rs200257210 G A 200.00 . #_unique_end_positions=,63;#_unique_start_positions=,53;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AN=1;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.13;Coding_region_change=,NM_001098623.2:c.18729G>A|_NM_001271223.2:c.21600G>A|_NM_052843.3:c.*1888G>A;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.21600G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;Exact_match=,1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,168;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001098623.2|NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5673|rna5672;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;Non-synonymous=,No;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;Read_count=,121;Read_coverage=,235;Read_direction_test_probability=,0.7971910148665016;Read_position_test_probability=,0.9505702343090756;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001098623.2|NM_001271223.2;Reverse_read_coverage=,67;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=21;conservation_score=,0.0;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001098623.2|Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_2|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_001098623.2|NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon80:c.G18729A:p.A6243A,OBSCN:NM_001271223:exon91:c.G21600A:p.A7200A;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0005;esp6500siv2_ea=0.0007;esp6500siv2_all=0.0005;esp6500siv2_ea=0.0007;1000g2015aug_all=0.000199681;avsnp147=rs200257210;Kaviar_AF=0.000511;Kaviar_AC=79;Kaviar_AN=154602;ExAC_ALL=0.0006;ExAC_AFR=0.0001;ExAC_AMR=0.0008;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0008;ExAC_OTH=0.0036;ExAC_SAS=0.0003;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.6050;dpsi_zscore=-1.190;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0005;gnomAD_exome_AFR=0.0001;gnomAD_exome_AMR=0.0007;gnomAD_exome_ASJ=0.0005;gnomAD_exome_EAS=0;gnomAD_exome_FIN=8.985e-05;gnomAD_exome_NFE=0.0007;gnomAD_exome_OTH=0.0015;gnomAD_exome_SAS=0.0004;gnomAD_genome_ALL=0.0003;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0006;gnomAD_genome_NFE=0.0005;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . 1:210:0,107 . . . . . . . . . . . . . . . . . . . . 1 228550426 rs35155240 C T 200.00 . #_unique_end_positions=,38;#_unique_start_positions=,39;AC=6;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0825;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0764;AN=6;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001258152.2:p.Pro7228Ser|_NP_001092093.2:p.Pro6271Ser;Amino_acid_change_in_longest_transcript=,NP_001258152.2:p.Pro7228Ser;BaseQRankSum=,-0.86;CAF_dbsnp_common_v150_hg19_refseq=,0.853|0.147;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001098623.2:c.18811C>T|_NM_001271223.2:c.21682C>T|_NM_052843.3:c.*1970C>T;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.21682C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3264;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0984;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,78;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,OBSCN:84033|LOC101927401:101927401;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001098623.2|NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5673|rna5672;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,228550426;RS_dbsnp_common_v150_hg19_refseq=,35155240;Read_count=,74;Read_coverage=,167;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.974749245112774;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001098623.2|NM_001271223.2;Reverse_read_coverage=,89;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1493;SF=5,10,19,31,32,36;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.902631|0.0973691;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050100080a05170536000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.0;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001098623.2|Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_2|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_001098623.2|NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon80:c.C18811T:p.P6271S,OBSCN:NM_001271223:exon91:c.C21682T:p.P7228S;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0867;esp6500siv2_ea=0.0834;esp6500siv2_all=0.0867;esp6500siv2_ea=0.0834;1000g2015aug_all=0.146965;avsnp147=rs35155240;Kaviar_AF=0.1054;Kaviar_AC=16295;Kaviar_AN=154602;ExAC_ALL=0.1695;ExAC_AFR=0.1296;ExAC_AMR=0.1501;ExAC_EAS=0.4052;ExAC_FIN=0.2670;ExAC_NFE=0.1364;ExAC_OTH=0.1644;ExAC_SAS=0.1682;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.687;SIFT_pred=T;Polyphen2_HDIV_score=0.002;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.003;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.345;MutationAssessor_pred=N;FATHMM_score=0.07;FATHMM_pred=T;PROVEAN_score=-1.05;PROVEAN_pred=N;VEST3_score=0.244;CADD_raw=-0.124;CADD_phred=1.559;DANN_score=0.501;fathmm-MKL_coding_score=0.075;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.002;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.581;integrated_confidence_value=0;GERP++_RS=-3.86;phyloP7way_vertebrate=-0.662;phyloP20way_mammalian=-0.404;phastCons7way_vertebrate=0.000;phastCons20way_mammalian=0.000;SiPhy_29way_logOdds=2.743;GDI_full_10282015=.;dpsi_max_tissue=-0.6828;dpsi_zscore=-1.255;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1241;gnomAD_exome_AFR=0.0922;gnomAD_exome_AMR=0.0930;gnomAD_exome_ASJ=0.0701;gnomAD_exome_EAS=0.3499;gnomAD_exome_FIN=0.1802;gnomAD_exome_NFE=0.0910;gnomAD_exome_OTH=0.1053;gnomAD_exome_SAS=0.1428;gnomAD_genome_ALL=0.1183;gnomAD_genome_AFR=0.0924;gnomAD_genome_AMR=0.0907;gnomAD_genome_ASJ=0.09;gnomAD_genome_EAS=0.3389;gnomAD_genome_FIN=0.1778;gnomAD_genome_NFE=0.0959;gnomAD_genome_OTH=0.1468;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . 1:143:0,62 . . . . 1:183:0,68 . . . . . . . . 1:164:0,78 . . . . . . . . . . . 1:105:0,51 1:173:0,82 . . . 1:132:0,57 . . . . . 1 228550429 rs11585049 C T 200.00 . #_unique_end_positions=,32;#_unique_start_positions=,28;AC=2;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0325;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0591;AN=2;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001258152.2:p.Pro7229Ser|_NP_001092093.2:p.Pro6272Ser;Amino_acid_change_in_longest_transcript=,NP_001258152.2:p.Pro7229Ser;BaseQRankSum=,-0.81;CAF_dbsnp_common_v150_hg19_refseq=,0.9557|0.04433;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001098623.2:c.18814C>T|_NM_001271223.2:c.21685C>T|_NM_052843.3:c.*1973C>T;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.21685C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0952;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0278;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,66;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,OBSCN:84033|LOC101927401:101927401;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001098623.2|NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5673|rna5672;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,228550429;RS_dbsnp_common_v150_hg19_refseq=,11585049;Read_count=,59;Read_coverage=,144;Read_direction_test_probability=,0.9999986542197373;Read_position_test_probability=,0.919360826280526;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001098623.2|NM_001271223.2;Reverse_read_coverage=,78;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0143;SF=4,33;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.957583|0.0424165;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050100080a05150536000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.0;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001098623.2|Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_2|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_001098623.2|NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon80:c.C18814T:p.P6272S,OBSCN:NM_001271223:exon91:c.C21685T:p.P7229S;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0389;esp6500siv2_ea=0.0362;esp6500siv2_all=0.0389;esp6500siv2_ea=0.0362;1000g2015aug_all=0.0443291;avsnp147=rs11585049;Kaviar_AF=0.0342557;Kaviar_AC=5296;Kaviar_AN=154602;ExAC_ALL=0.0598;ExAC_AFR=0.0640;ExAC_AMR=0.1023;ExAC_EAS=0.1244;ExAC_FIN=0.0444;ExAC_NFE=0.0622;ExAC_OTH=0.0603;ExAC_SAS=0.0193;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.253;SIFT_pred=T;Polyphen2_HDIV_score=0.004;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0.805;MutationAssessor_pred=L;FATHMM_score=0.06;FATHMM_pred=T;PROVEAN_score=-1.37;PROVEAN_pred=N;VEST3_score=0.217;CADD_raw=0.627;CADD_phred=8.342;DANN_score=0.336;fathmm-MKL_coding_score=0.116;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.104;MetaSVM_pred=T;MetaLR_score=0.004;MetaLR_pred=T;integrated_fitCons_score=0.581;integrated_confidence_value=0;GERP++_RS=1.05;phyloP7way_vertebrate=-0.032;phyloP20way_mammalian=0.065;phastCons7way_vertebrate=0.000;phastCons20way_mammalian=0.003;SiPhy_29way_logOdds=5.236;GDI_full_10282015=.;dpsi_max_tissue=-0.4573;dpsi_zscore=-1.048;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0411;gnomAD_exome_AFR=0.0460;gnomAD_exome_AMR=0.0577;gnomAD_exome_ASJ=0.0564;gnomAD_exome_EAS=0.0839;gnomAD_exome_FIN=0.0281;gnomAD_exome_NFE=0.0374;gnomAD_exome_OTH=0.0471;gnomAD_exome_SAS=0.0156;gnomAD_genome_ALL=0.0419;gnomAD_genome_AFR=0.0487;gnomAD_genome_AMR=0.0656;gnomAD_genome_ASJ=0.0430;gnomAD_genome_EAS=0.0741;gnomAD_genome_FIN=0.0321;gnomAD_genome_NFE=0.0360;gnomAD_genome_OTH=0.0327;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . 1:119:0,49 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:130:0,69 . . . . . . . . 1 228553251 . G A 200.00 . #_unique_end_positions=,61;#_unique_start_positions=,50;AC=1;AN=1;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.31;Coding_region_change=,NM_001098623.2:c.19053G>A|_NM_001271223.2:c.21924G>A;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.21924G>A;Forward_read_coverage=,113;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001098623.2|NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5673|rna5672;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;Non-synonymous=,No;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;Read_count=,114;Read_coverage=,208;Read_direction_test_probability=,0.9942184820937953;Read_position_test_probability=,0.9090186903796192;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001098623.2|NM_001271223.2;Reverse_read_coverage=,95;SF=28;conservation_score=,0.0;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001098623.2|Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_2|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_001098623.2|NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon82:c.G19053A:p.T6351T,OBSCN:NM_001271223:exon93:c.G21924A:p.T7308T;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=7.8e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=7.8e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=.;avsnp147=rs376717956;Kaviar_AF=0.0002135;Kaviar_AC=33;Kaviar_AN=154602;ExAC_ALL=0.0003;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0.0002;ExAC_NFE=0.0002;ExAC_OTH=0;ExAC_SAS=0.0013;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-7.9759;dpsi_zscore=-2.781;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0002;gnomAD_exome_AFR=0;gnomAD_exome_AMR=6.029e-05;gnomAD_exome_ASJ=0.0001;gnomAD_exome_EAS=0;gnomAD_exome_FIN=4.549e-05;gnomAD_exome_NFE=0.0001;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0.0008;gnomAD_genome_ALL=9.739e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0001;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:191:0,103 . . . . . . . . . . . . . 1 228553257 . C T 200.00 . #_unique_end_positions=,46;#_unique_start_positions=,36;AC=1;AN=1;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.3;Coding_region_change=,NM_001098623.2:c.19059C>T|_NM_001271223.2:c.21930C>T;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.21930C>T;Forward_read_coverage=,81;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001098623.2|NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5673|rna5672;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;Non-synonymous=,No;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;Read_count=,67;Read_coverage=,169;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.7608081496004465;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001098623.2|NM_001271223.2;Reverse_read_coverage=,88;SF=29;conservation_score=,0.0;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001098623.2|Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_2|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_001098623.2|NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon82:c.C19059T:p.T6353T,OBSCN:NM_001271223:exon93:c.C21930T:p.T7310T;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs750269550;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=1.145e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=2.02e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-5.8518;dpsi_zscore=-2.596;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=2.497e-05;gnomAD_exome_AFR=6.888e-05;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=5.891e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=1.843e-05;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=3.329e-05;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:155:0,65 . . . . . . . . . . . . 1 228553261 rs529666963 C T 200.00 . #_unique_end_positions=,36;#_unique_start_positions=,33;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0;AN=1;Amino_acid_change=,NP_001092093.2:p.Arg6355Trp|_NP_001258152.2:p.Arg7312Trp;Amino_acid_change_in_longest_transcript=,NP_001258152.2:p.Arg7312Trp;BaseQRankSum=,-0.38;Coding_region_change=,NM_001098623.2:c.19063C>T|_NM_001271223.2:c.21934C>T;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.21934C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0;Exact_match=,1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,62;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001098623.2|NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5673|rna5672;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;Read_count=,55;Read_coverage=,129;Read_direction_test_probability=,0.9934728622161542;Read_position_test_probability=,0.9625206151160477;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001098623.2|NM_001271223.2;Reverse_read_coverage=,67;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0;SF=9;conservation_score=,0.239;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001098623.2|Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_2|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_001098623.2|NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon82:c.C19063T:p.R6355W,OBSCN:NM_001271223:exon93:c.C21934T:p.R7312W;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs529666963;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=8.005e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0.0007;ExAC_FIN=0.0002;ExAC_NFE=2.019e-05;ExAC_OTH=0;ExAC_SAS=8.129e-05;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.005;SIFT_pred=D;Polyphen2_HDIV_score=0.993;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.544;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=0.805;MutationAssessor_pred=L;FATHMM_score=-0.79;FATHMM_pred=T;PROVEAN_score=-4.09;PROVEAN_pred=D;VEST3_score=0.411;CADD_raw=5.029;CADD_phred=25.2;DANN_score=0.602;fathmm-MKL_coding_score=0.131;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.076;MetaSVM_pred=T;MetaLR_score=0.105;MetaLR_pred=T;integrated_fitCons_score=0.646;integrated_confidence_value=0;GERP++_RS=0.808;phyloP7way_vertebrate=-0.293;phyloP20way_mammalian=-0.216;phastCons7way_vertebrate=0.003;phastCons20way_mammalian=0.021;SiPhy_29way_logOdds=5.738;GDI_full_10282015=.;dpsi_max_tissue=3.1057;dpsi_zscore=2.256;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=6.671e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0.0006;gnomAD_exome_FIN=4.558e-05;gnomAD_exome_NFE=2.772e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=3.336e-05;gnomAD_genome_ALL=3.247e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=7 GT:DP:CLCAD2 . . . . . . . . . 1:112:0,47 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 228557681 . G A 200.00 . #_unique_end_positions=,42;#_unique_start_positions=,33;AC=1;AN=1;Amino_acid_change=,NP_001092093.2:p.Arg6669His|_NP_001258152.2:p.Arg7626His;Amino_acid_change_in_longest_transcript=,NP_001258152.2:p.Arg7626His;BaseQRankSum=,-0.69;Coding_region_change=,NM_001098623.2:c.20006G>A|_NM_001271223.2:c.22877G>A;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.22877G>A;Forward_read_coverage=,103;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001098623.2|NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5673|rna5672;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;Read_count=,64;Read_coverage=,155;Read_direction_test_probability=,0.9501424212511796;Read_position_test_probability=,0.935518464694124;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001098623.2|NM_001271223.2;Reverse_read_coverage=,52;SF=4;conservation_score=,0.976;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001098623.2|Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_2|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_001098623.2|NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon91:c.G20006A:p.R6669H,OBSCN:NM_001271223:exon102:c.G22877A:p.R7626H;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0004;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0004;1000g2015aug_all=.;avsnp147=rs373638525;Kaviar_AF=9.7e-05;Kaviar_AC=15;Kaviar_AN=154602;ExAC_ALL=0.0001;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0002;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.022;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.989;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=0.867;MutationTaster_pred=D;MutationAssessor_score=0.885;MutationAssessor_pred=L;FATHMM_score=-0.21;FATHMM_pred=T;PROVEAN_score=-2.86;PROVEAN_pred=D;VEST3_score=0.317;CADD_raw=7.200;CADD_phred=34;DANN_score=0.996;fathmm-MKL_coding_score=0.944;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.362;MetaSVM_pred=T;MetaLR_score=0.351;MetaLR_pred=T;integrated_fitCons_score=0.581;integrated_confidence_value=0;GERP++_RS=4.78;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.937;phastCons20way_mammalian=0.784;SiPhy_29way_logOdds=16.174;GDI_full_10282015=.;dpsi_max_tissue=0.3826;dpsi_zscore=1.001;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=9.768e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0001;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0001;gnomAD_exome_OTH=0.0004;gnomAD_exome_SAS=6.5e-05;gnomAD_genome_ALL=6.479e-05;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.693e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=5 GT:DP:CLCAD2 . . . . 1:137:0,58 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 228557709 . G A 200.00 . #_unique_end_positions=,73;#_unique_start_positions=,61;AC=1;AN=1;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.24;Coding_region_change=,NM_001098623.2:c.20034G>A|_NM_001271223.2:c.22905G>A;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.22905G>A;Forward_read_coverage=,197;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001098623.2|NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5673|rna5672;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;Non-synonymous=,No;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;Read_count=,139;Read_coverage=,328;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9231213053919494;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001098623.2|NM_001271223.2;Reverse_read_coverage=,131;SF=22;conservation_score=,0.997;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001098623.2|Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_2|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_001098623.2|NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon91:c.G20034A:p.G6678G,OBSCN:NM_001271223:exon102:c.G22905A:p.G7635G;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs751734757;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=8.339e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.513e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.4002;dpsi_zscore=1.022;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=8.132e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=1.794e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=3.238e-05;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . 1:295:0,129 . . . . . . . . . . . . . . . . . . . 1 228558892 rs35186354 C T 200.00 . #_unique_end_positions=,63;#_unique_start_positions=,62;AC=5;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0061;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0259;AN=5;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001092093.2:p.Arg6805Trp|_NP_001258152.2:p.Arg7762Trp;Amino_acid_change_in_longest_transcript=,NP_001258152.2:p.Arg7762Trp;BaseQRankSum=,0.06;CAF_dbsnp_common_v150_hg19_refseq=,0.9663|0.03375;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001098623.2:c.20413C>T|_NM_001271223.2:c.23284C>T;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.23284C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0686;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,92;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,OBSCN:84033;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001098623.2|NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5673|rna5672;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,228558892;RS_dbsnp_common_v150_hg19_refseq=,35186354;Read_count=,139;Read_coverage=,247;Read_direction_test_probability=,0.9999850670922213;Read_position_test_probability=,0.9973105277135181;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001098623.2|NM_001271223.2;Reverse_read_coverage=,155;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0757;SF=5,10,19,31,32;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.959885|0.0401154;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050100000a05150536000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.979;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001098623.2|Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_2|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_001098623.2|NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon94:c.C20413T:p.R6805W,OBSCN:NM_001271223:exon105:c.C23284T:p.R7762W;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0473;esp6500siv2_ea=0.0650;esp6500siv2_all=0.0473;esp6500siv2_ea=0.0650;1000g2015aug_all=0.033746;avsnp147=rs35186354;Kaviar_AF=0.0549087;Kaviar_AC=8489;Kaviar_AN=154602;ExAC_ALL=0.0663;ExAC_AFR=0.0125;ExAC_AMR=0.0289;ExAC_EAS=0.0007;ExAC_FIN=0.1207;ExAC_NFE=0.0775;ExAC_OTH=0.0971;ExAC_SAS=0.0854;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.006;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.913;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=0.994;MutationTaster_pred=N;MutationAssessor_score=1.39;MutationAssessor_pred=L;FATHMM_score=-0.02;FATHMM_pred=T;PROVEAN_score=-3.05;PROVEAN_pred=D;VEST3_score=0.344;CADD_raw=6.518;CADD_phred=31;DANN_score=0.991;fathmm-MKL_coding_score=0.310;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.953;MetaSVM_pred=T;MetaLR_score=0.047;MetaLR_pred=T;integrated_fitCons_score=0.646;integrated_confidence_value=0;GERP++_RS=1.42;phyloP7way_vertebrate=-0.022;phyloP20way_mammalian=0.018;phastCons7way_vertebrate=0.802;phastCons20way_mammalian=0.810;SiPhy_29way_logOdds=10.441;GDI_full_10282015=.;dpsi_max_tissue=-0.1921;dpsi_zscore=-0.671;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0562;gnomAD_exome_AFR=0.0112;gnomAD_exome_AMR=0.0260;gnomAD_exome_ASJ=0.0562;gnomAD_exome_EAS=0.0005;gnomAD_exome_FIN=0.102;gnomAD_exome_NFE=0.0658;gnomAD_exome_OTH=0.0574;gnomAD_exome_SAS=0.0770;gnomAD_genome_ALL=0.0538;gnomAD_genome_AFR=0.0122;gnomAD_genome_AMR=0.0251;gnomAD_genome_ASJ=0.0695;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.1049;gnomAD_genome_NFE=0.0713;gnomAD_genome_OTH=0.0837;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:DP:CLCAD2 . . . . . 1:228:0,124 . . . . 1:299:0,140 . . . . . . . . 1:206:0,109 . . . . . . . . . . . 1:147:0,74 1:284:0,149 . . . . . . . . . 1 228559083 . C T 200.00 . #_unique_end_positions=,70;#_unique_start_positions=,62;AC=1;AN=1;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.41;Coding_region_change=,NM_001098623.2:c.20604C>T|_NM_001271223.2:c.23475C>T;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.23475C>T;Forward_read_coverage=,113;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001098623.2|NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5673|rna5672;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;Non-synonymous=,No;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;Read_count=,191;Read_coverage=,325;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.7599212322139955;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001098623.2|NM_001271223.2;Reverse_read_coverage=,212;SF=27;conservation_score=,0.26;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001098623.2|Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_2|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_001098623.2|NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon94:c.C20604T:p.S6868S,OBSCN:NM_001271223:exon105:c.C23475T:p.S7825S;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1425;dpsi_zscore=-0.564;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=2.496e-05;gnomAD_exome_AFR=0.0002;gnomAD_exome_AMR=4.424e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=2.279e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=3.243e-05;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:316:0,183 . . . . . . . . . . . . . . 1 228559450 rs186870748 G A 200.00 . #_unique_end_positions=,66;#_unique_start_positions=,52;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0014;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001258152.2:p.Gly7948Arg|_NP_001092093.2:p.Gly6991Arg;Amino_acid_change_in_longest_transcript=,NP_001258152.2:p.Gly7948Arg;BaseQRankSum=,-0.96;CAF_dbsnp_common_v150_hg19_refseq=,0.998|0.001997|.;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001098623.2:c.20971G>A|_NM_001271223.2:c.23842G>A;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.23842G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0089;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,140;GENEINFO_dbsnp_common_v150_hg19_refseq=,OBSCN:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001098623.2|NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5673|rna5672;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,228559450;RS_dbsnp_common_v150_hg19_refseq=,186870748;Read_count=,120;Read_coverage=,249;Read_direction_test_probability=,0.9990692697192599;Read_position_test_probability=,0.9990339343689908;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001098623.2|NM_001271223.2;Reverse_read_coverage=,109;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=18;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.994127|0.00587306|.;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050000000a05040436000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.0;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001098623.2|Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_2|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_001098623.2|NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon94:c.G20971A:p.G6991R,OBSCN:NM_001271223:exon105:c.G23842A:p.G7948R;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0056;esp6500siv2_ea=0.0077;esp6500siv2_all=0.0056;esp6500siv2_ea=0.0077;1000g2015aug_all=0.00199681;avsnp147=rs186870748;Kaviar_AF=0.0061901;Kaviar_AC=957;Kaviar_AN=154602;ExAC_ALL=0.0071;ExAC_AFR=0.0018;ExAC_AMR=0.0014;ExAC_EAS=0;ExAC_FIN=0.0040;ExAC_NFE=0.0111;ExAC_OTH=0.0014;ExAC_SAS=0.0022;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.345;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0.55;MutationAssessor_pred=N;FATHMM_score=0.16;FATHMM_pred=T;PROVEAN_score=-0.73;PROVEAN_pred=N;VEST3_score=0.231;CADD_raw=-0.731;CADD_phred=0.061;DANN_score=0.500;fathmm-MKL_coding_score=0.110;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.022;MetaSVM_pred=T;MetaLR_score=0.033;MetaLR_pred=T;integrated_fitCons_score=0.581;integrated_confidence_value=0;GERP++_RS=-0.051;phyloP7way_vertebrate=0.069;phyloP20way_mammalian=-1.732;phastCons7way_vertebrate=0.002;phastCons20way_mammalian=0.000;SiPhy_29way_logOdds=2.841;GDI_full_10282015=.;dpsi_max_tissue=-0.2419;dpsi_zscore=-0.762;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0065;gnomAD_exome_AFR=0.0017;gnomAD_exome_AMR=0.0018;gnomAD_exome_ASJ=0.0025;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0039;gnomAD_exome_NFE=0.0118;gnomAD_exome_OTH=0.0038;gnomAD_exome_SAS=0.0022;gnomAD_genome_ALL=0.0059;gnomAD_genome_AFR=0.0009;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0057;gnomAD_genome_NFE=0.0099;gnomAD_genome_OTH=0.0041;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . 1:239:0,114 . . . . . . . . . . . . . . . . . . . . . . . 1 228559467 . G A 200.00 . #_unique_end_positions=,91;#_unique_start_positions=,77;AC=1;AN=1;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.11;Coding_region_change=,NM_001098623.2:c.20988G>A|_NM_001271223.2:c.23859G>A;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.23859G>A;Forward_read_coverage=,184;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001098623.2|NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5673|rna5672;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;Non-synonymous=,No;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;Read_count=,192;Read_coverage=,409;Read_direction_test_probability=,0.8587340878395765;Read_position_test_probability=,0.9663532536702023;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001098623.2|NM_001271223.2;Reverse_read_coverage=,225;SF=27;conservation_score=,0.001;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001098623.2|Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_2|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_001098623.2|NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon94:c.G20988A:p.R6996R,OBSCN:NM_001271223:exon105:c.G23859A:p.R7953R;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.7885;dpsi_zscore=1.378;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=5.138e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=6.19e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:387:0,182 . . . . . . . . . . . . . . 1 228559654 rs111616349 G A 200.00 . #_unique_end_positions=,50;#_unique_start_positions=,42;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0015;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0115;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001258152.2:p.Gly8016Ser|_NP_001092093.2:p.Gly7059Ser;Amino_acid_change_in_longest_transcript=,NP_001258152.2:p.Gly8016Ser;BaseQRankSum=,-0.23;CAF_dbsnp_common_v150_hg19_refseq=,0.995|0.004992;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001098623.2:c.21175G>A|_NM_001271223.2:c.24046G>A;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.24046G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0119;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,84;GENEINFO_dbsnp_common_v150_hg19_refseq=,OBSCN:84033;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001098623.2|NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5673|rna5672;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,228559654;RS_dbsnp_common_v150_hg19_refseq=,111616349;Read_count=,100;Read_coverage=,236;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.7837036270070576;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001098623.2|NM_001271223.2;Reverse_read_coverage=,152;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0031;SF=39;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.991379|0.00862069;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050100000a05040136000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.008;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001098623.2|Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_2|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_001098623.2|NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon94:c.G21175A:p.G7059S,OBSCN:NM_001271223:exon105:c.G24046A:p.G8016S;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0112;esp6500siv2_ea=0.0152;esp6500siv2_all=0.0112;esp6500siv2_ea=0.0152;1000g2015aug_all=0.00499201;avsnp147=rs111616349;Kaviar_AF=0.0099287;Kaviar_AC=1535;Kaviar_AN=154602;ExAC_ALL=0.0107;ExAC_AFR=0.0042;ExAC_AMR=0.0058;ExAC_EAS=0;ExAC_FIN=0.0094;ExAC_NFE=0.0156;ExAC_OTH=0.0046;ExAC_SAS=0.0047;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.244;SIFT_pred=T;Polyphen2_HDIV_score=0.03;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.014;Polyphen2_HVAR_pred=B;LRT_score=0.066;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0.975;MutationAssessor_pred=L;FATHMM_score=0.17;FATHMM_pred=T;PROVEAN_score=-1.23;PROVEAN_pred=N;VEST3_score=0.249;CADD_raw=1.765;CADD_phred=14.78;DANN_score=0.396;fathmm-MKL_coding_score=0.029;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.041;MetaSVM_pred=T;MetaLR_score=0.045;MetaLR_pred=T;integrated_fitCons_score=0.581;integrated_confidence_value=0;GERP++_RS=1.52;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.082;phastCons7way_vertebrate=0.086;phastCons20way_mammalian=0.001;SiPhy_29way_logOdds=8.478;GDI_full_10282015=.;dpsi_max_tissue=0.0658;dpsi_zscore=0.365;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0105;gnomAD_exome_AFR=0.0032;gnomAD_exome_AMR=0.0067;gnomAD_exome_ASJ=0.0401;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0078;gnomAD_exome_NFE=0.0137;gnomAD_exome_OTH=0.0112;gnomAD_exome_SAS=0.0050;gnomAD_genome_ALL=0.0079;gnomAD_genome_AFR=0.0022;gnomAD_genome_AMR=0.0107;gnomAD_genome_ASJ=0.0364;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0080;gnomAD_genome_NFE=0.0112;gnomAD_genome_OTH=0.0113;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:216:0,94 . . 1 228559967 rs72762066 C T 200.00 . #_unique_end_positions=,81;#_unique_start_positions=,71;AC=2;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0072;AN=2;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001258152.2:p.Pro8120Leu|_NP_001092093.2:p.Pro7163Leu;Amino_acid_change_in_longest_transcript=,NP_001258152.2:p.Pro8120Leu;BaseQRankSum=,0.06;CAF_dbsnp_common_v150_hg19_refseq=,0.995|0.004992;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001098623.2:c.21488C>T|_NM_001271223.2:c.24359C>T;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.24359C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0159;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,238;GENEINFO_dbsnp_common_v150_hg19_refseq=,OBSCN:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001098623.2|NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5673|rna5672;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,228559967;RS_dbsnp_common_v150_hg19_refseq=,72762066;Read_count=,158;Read_coverage=,343;Read_direction_test_probability=,0.9956440713424464;Read_position_test_probability=,0.9945038016504869;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001098623.2|NM_001271223.2;Reverse_read_coverage=,105;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0041;SF=25,29;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.98451|0.0154898;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050100000a0504043e000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.051;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001098623.2|Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_2|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_001098623.2|NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon94:c.C21488T:p.P7163L,OBSCN:NM_001271223:exon105:c.C24359T:p.P8120L;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0102;esp6500siv2_ea=0.0136;esp6500siv2_all=0.0102;esp6500siv2_ea=0.0136;1000g2015aug_all=0.00499201;avsnp147=rs72762066;Kaviar_AF=0.0090102;Kaviar_AC=1393;Kaviar_AN=154602;ExAC_ALL=0.0214;ExAC_AFR=0.0049;ExAC_AMR=0.0364;ExAC_EAS=0;ExAC_FIN=0.0036;ExAC_NFE=0.0326;ExAC_OTH=0.0458;ExAC_SAS=0.0072;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.008;SIFT_pred=D;Polyphen2_HDIV_score=0.906;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.42;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0.805;MutationAssessor_pred=L;FATHMM_score=0.07;FATHMM_pred=T;PROVEAN_score=-3.24;PROVEAN_pred=D;VEST3_score=0.209;CADD_raw=2.939;CADD_phred=22.0;DANN_score=0.978;fathmm-MKL_coding_score=0.097;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.820;MetaSVM_pred=T;MetaLR_score=0.123;MetaLR_pred=T;integrated_fitCons_score=0.646;integrated_confidence_value=0;GERP++_RS=4.19;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.002;phastCons20way_mammalian=0.001;SiPhy_29way_logOdds=11.890;GDI_full_10282015=.;dpsi_max_tissue=-0.2745;dpsi_zscore=-0.815;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0114;gnomAD_exome_AFR=0.0019;gnomAD_exome_AMR=0.0120;gnomAD_exome_ASJ=0.0461;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0007;gnomAD_exome_NFE=0.0139;gnomAD_exome_OTH=0.0192;gnomAD_exome_SAS=0.0066;gnomAD_genome_ALL=0.0074;gnomAD_genome_AFR=0.0021;gnomAD_genome_AMR=0.0203;gnomAD_genome_ASJ=0.0364;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0023;gnomAD_genome_NFE=0.0110;gnomAD_genome_OTH=0.0102;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . 1:331:0,153 . . . 1:551:0,245 . . . . . . . . . . . . 1 228559994 rs500049 C T 194.15 . #_unique_end_positions=,91;#_unique_start_positions=,85;AC=38;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7080;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3890;AN=38;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001092093.2:p.Ala7172Val|_NP_001258152.2:p.Ala8129Val;Amino_acid_change_in_longest_transcript=,NP_001258152.2:p.Ala8129Val;BaseQRankSum=,-0.09;CAF_dbsnp_common_v150_hg19_refseq=,0.4109|0.5891;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001098623.2:c.21515C>T|_NM_001271223.2:c.24386C>T;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.24386C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5625;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5040;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,118;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,OBSCN:84033;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,T/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001098623.2|NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5673|rna5672;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,228559994;RS_dbsnp_common_v150_hg19_refseq=,500049;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,196;Read_coverage=,196;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001098623.2|NM_001271223.2;Reverse_read_coverage=,78;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6851;SF=0,2,3,4,5,7,8,9,10,12,14,15,16,17,20,22,23,25,28,29,30,31,32,33,34,37,38,39,40;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.435293|0.564707;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050100000a0517053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.558333;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.666667;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.639535;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.716667;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.588;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001098623.2|Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_2|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_001098623.2|NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon94:c.C21515T:p.A7172V,OBSCN:NM_001271223:exon105:c.C24386T:p.A8129V;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.5550;esp6500siv2_ea=0.5033;esp6500siv2_all=0.5550;esp6500siv2_ea=0.5033;1000g2015aug_all=0.589058;avsnp147=rs500049;Kaviar_AF=0.457226;Kaviar_AC=70688;Kaviar_AN=154602;ExAC_ALL=0.6192;ExAC_AFR=0.7076;ExAC_AMR=0.5245;ExAC_EAS=0.6578;ExAC_FIN=0.6214;ExAC_NFE=0.5975;ExAC_OTH=0.5802;ExAC_SAS=0.6561;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.281;SIFT_pred=T;Polyphen2_HDIV_score=0.004;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.003;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=0.805;MutationAssessor_pred=L;FATHMM_score=0.0;FATHMM_pred=T;PROVEAN_score=-1.72;PROVEAN_pred=N;VEST3_score=0.216;CADD_raw=2.792;CADD_phred=21.3;DANN_score=0.952;fathmm-MKL_coding_score=0.269;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.948;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.581;integrated_confidence_value=0;GERP++_RS=3.71;phyloP7way_vertebrate=-0.011;phyloP20way_mammalian=0.069;phastCons7way_vertebrate=0.021;phastCons20way_mammalian=0.317;SiPhy_29way_logOdds=11.612;GDI_full_10282015=.;dpsi_max_tissue=0.1067;dpsi_zscore=0.503;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.5171;gnomAD_exome_AFR=0.6595;gnomAD_exome_AMR=0.3581;gnomAD_exome_ASJ=0.5071;gnomAD_exome_EAS=0.5798;gnomAD_exome_FIN=0.4912;gnomAD_exome_NFE=0.5120;gnomAD_exome_OTH=0.5032;gnomAD_exome_SAS=0.6395;gnomAD_genome_ALL=0.5371;gnomAD_genome_AFR=0.6375;gnomAD_genome_AMR=0.3556;gnomAD_genome_ASJ=0.5099;gnomAD_genome_EAS=0.5743;gnomAD_genome_FIN=0.4837;gnomAD_genome_NFE=0.4981;gnomAD_genome_OTH=0.5326;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1/1:177:0,177 . 1/1:350:0,350 1:328:0,166 1:294:0,141 1/1:399:0,399 . 1:397:0,218 1:419:0,201 1:380:0,207 1/1:466:0,466 . 1/1:448:0,448 . 1:655:0,332 1:426:0,202 1/1:411:0,411 1/1:452:0,452 . . 1:325:0,165 . 1:638:0,318 1:525:0,231 . 1:350:0,169 . . 1:580:0,281 1:537:0,250 1/1:421:0,421 1:232:0,114 1/1:368:0,368 1:359:0,176 1:377:0,157 . . 1:297:0,133 1:354:0,174 1:444:0,219 1:408:0,224 . 1 228560034 rs36119328 C T 200.00 . #_unique_end_positions=,84;#_unique_start_positions=,84;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.3;CAF_dbsnp_common_v150_hg19_refseq=,0.9862|0.01378;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001098623.2:c.21555C>T|_NM_001271223.2:c.24426C>T;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.24426C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0575;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,187;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,OBSCN:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001098623.2|NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5673|rna5672;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;Non-synonymous=,No;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,228560034;RS_dbsnp_common_v150_hg19_refseq=,36119328;Read_count=,177;Read_coverage=,377;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.6509779672377745;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001098623.2|NM_001271223.2;Reverse_read_coverage=,190;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0102;SF=34;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.998523|0.00147685;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050000000305150436000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.025;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001098623.2|Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_2|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_001098623.2|NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon94:c.C21555T:p.Y7185Y,OBSCN:NM_001271223:exon105:c.C24426T:p.Y8142Y;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0005;esp6500siv2_ea=0.0005;esp6500siv2_all=0.0005;esp6500siv2_ea=0.0005;1000g2015aug_all=0.013778;avsnp147=rs36119328;Kaviar_AF=0.0042626;Kaviar_AC=659;Kaviar_AN=154602;ExAC_ALL=0.0091;ExAC_AFR=0.0020;ExAC_AMR=0.0007;ExAC_EAS=0.1009;ExAC_FIN=0.0059;ExAC_NFE=0.0016;ExAC_OTH=0;ExAC_SAS=0.0037;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0802;dpsi_zscore=0.418;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0054;gnomAD_exome_AFR=0.0009;gnomAD_exome_AMR=0.0010;gnomAD_exome_ASJ=0.0002;gnomAD_exome_EAS=0.0585;gnomAD_exome_FIN=0.0039;gnomAD_exome_NFE=0.0004;gnomAD_exome_OTH=0.0029;gnomAD_exome_SAS=0.0032;gnomAD_genome_ALL=0.0042;gnomAD_genome_AFR=0.0003;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0.0617;gnomAD_genome_FIN=0.0034;gnomAD_genome_NFE=0.0009;gnomAD_genome_OTH=0.0031;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:343:0,158 . . . . . . . 1 228560139 rs498382 A G 187.41 . #_unique_end_positions=,83;#_unique_start_positions=,76;AC=81;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9962;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9640;AN=81;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.2;CAF_dbsnp_common_v150_hg19_refseq=,0.02576|0.9742;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001098623.2:c.21660A>G|_NM_001271223.2:c.24531A>G;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.24531A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,1.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9066;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,63;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,OBSCN:84033;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,G/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001098623.2|NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5673|rna5672;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;Non-synonymous=,No;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,228560139;RS_dbsnp_common_v150_hg19_refseq=,498382;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,177;Read_coverage=,177;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001098623.2|NM_001271223.2;Reverse_read_coverage=,114;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9949;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.0451298|0.95487;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05010000030515013f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,1;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,1;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,1;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.692;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001098623.2|Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_2|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_001098623.2|NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon94:c.A21660G:p.S7220S,OBSCN:NM_001271223:exon105:c.A24531G:p.S8177S;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.9449;esp6500siv2_ea=0.9259;esp6500siv2_all=0.9449;esp6500siv2_ea=0.9259;1000g2015aug_all=0.974241;avsnp147=rs498382;Kaviar_AF=0.816445;Kaviar_AC=126224;Kaviar_AN=154602;ExAC_ALL=0.9502;ExAC_AFR=0.9863;ExAC_AMR=0.9606;ExAC_EAS=1;ExAC_FIN=0.8924;ExAC_NFE=0.9239;ExAC_OTH=0.9512;ExAC_SAS=0.9881;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.4090;dpsi_zscore=1.032;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.9435;gnomAD_exome_AFR=0.9862;gnomAD_exome_AMR=0.9593;gnomAD_exome_ASJ=0.9300;gnomAD_exome_EAS=0.9998;gnomAD_exome_FIN=0.8939;gnomAD_exome_NFE=0.9205;gnomAD_exome_OTH=0.9375;gnomAD_exome_SAS=0.9890;gnomAD_genome_ALL=0.9416;gnomAD_genome_AFR=0.9855;gnomAD_genome_AMR=0.9618;gnomAD_genome_ASJ=0.9233;gnomAD_genome_EAS=1;gnomAD_genome_FIN=0.8966;gnomAD_genome_NFE=0.9202;gnomAD_genome_OTH=0.9293;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1/1:165:0,165 1/1:342:0,342 1/1:357:0,355 1:288:0,144 1/1:262:0,262 1/1:379:0,379 1/1:314:0,311 1/1:392:0,392 1/1:410:0,410 1/1:356:0,353 1/1:453:0,452 1/1:408:0,408 1/1:391:0,390 1/1:425:0,422 1/1:590:0,588 1/1:406:0,405 1/1:388:0,388 1/1:407:0,405 1/1:305:0,305 1/1:355:0,354 1/1:316:0,316 1/1:340:0,337 1/1:535:0,535 1/1:496:0,496 1:514:0,251 1/1:353:0,353 1/1:385:0,382 1/1:463:0,462 1/1:556:0,554 1/1:525:0,523 1/1:409:0,409 1/1:209:0,207 1/1:371:0,369 1/1:290:0,290 1/1:364:0,364 1:414:0,220 1/1:288:0,287 1/1:274:0,272 1/1:331:0,329 1/1:356:0,354 1/1:403:0,401 1/1:296:0,295 1 228560700 rs512253 T C 197.75 . #_unique_end_positions=,83;#_unique_start_positions=,74;AC=50;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9365;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6398;AN=50;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.21;CAF_dbsnp_common_v150_hg19_refseq=,0.242|0.758;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001098623.2:c.22221T>C|_NM_001271223.2:c.25092T>C;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.25092T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7520;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5636;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,82;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,OBSCN:84033;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,C/C;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001098623.2|NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5673|rna5672;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;Non-synonymous=,No;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,228560700;RS_dbsnp_common_v150_hg19_refseq=,512253;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,192;Read_coverage=,192;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001098623.2|NM_001271223.2;Reverse_read_coverage=,110;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.8067;SF=0,1,2,3,4,5,6,8,9,10,12,13,14,15,16,17,19,21,22,23,25,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.277614|0.722386;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05010000030517052e000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.072;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001098623.2|Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_2|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_001098623.2|NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon94:c.T22221C:p.D7407D,OBSCN:NM_001271223:exon105:c.T25092C:p.D8364D;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.6535;esp6500siv2_ea=0.5485;esp6500siv2_all=0.6535;esp6500siv2_ea=0.5485;1000g2015aug_all=0.757987;avsnp147=rs512253;Kaviar_AF=0.559029;Kaviar_AC=86427;Kaviar_AN=154602;ExAC_ALL=0.6317;ExAC_AFR=0.8887;ExAC_AMR=0.6755;ExAC_EAS=0.7978;ExAC_FIN=0.5118;ExAC_NFE=0.5550;ExAC_OTH=0.648;ExAC_SAS=0.7625;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=4.7089;dpsi_zscore=2.546;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.6322;gnomAD_exome_AFR=0.8877;gnomAD_exome_AMR=0.6671;gnomAD_exome_ASJ=0.6456;gnomAD_exome_EAS=0.8000;gnomAD_exome_FIN=0.5089;gnomAD_exome_NFE=0.5490;gnomAD_exome_OTH=0.6110;gnomAD_exome_SAS=0.7576;gnomAD_genome_ALL=0.6472;gnomAD_genome_AFR=0.8718;gnomAD_genome_AMR=0.6411;gnomAD_genome_ASJ=0.6523;gnomAD_genome_EAS=0.8073;gnomAD_genome_FIN=0.5069;gnomAD_genome_NFE=0.5350;gnomAD_genome_OTH=0.6006;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1/1:162:0,162 1:299:0,151 1:306:0,140 1:250:0,119 1/1:169:0,169 1/1:332:0,332 1:222:0,106 . 1:338:0,168 1/1:319:0,319 1/1:361:0,360 . 1:317:0,173 1:369:0,195 1:511:0,257 1/1:321:0,321 1:344:0,161 1/1:386:0,386 . 1/1:309:0,309 . 1:267:0,129 1/1:470:0,470 1:385:0,194 . 1:288:0,151 . 1:406:0,207 1/1:448:0,447 1:391:0,204 1/1:365:0,365 1/1:184:0,184 1:331:0,179 1/1:283:0,283 1:284:0,139 1:276:0,155 1:259:0,144 1:216:0,121 1:257:0,122 1/1:335:0,335 1:316:0,156 1:274:0,130 1 228562350 rs72762068 T C 200.00 . #_unique_end_positions=,53;#_unique_start_positions=,48;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0008;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0101;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.56;CAF_dbsnp_common_v150_hg19_refseq=,0.9948|0.005192|.;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001098623.2:c.22560T>C|_NM_001271223.2:c.25431T>C;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.25431T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0149;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,96;GENEINFO_dbsnp_common_v150_hg19_refseq=,OBSCN:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001098623.2|NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5673|rna5672;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;Non-synonymous=,No;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,228562350;RS_dbsnp_common_v150_hg19_refseq=,72762068;Read_count=,88;Read_coverage=,170;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9246359695508193;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001098623.2|NM_001271223.2;Reverse_read_coverage=,74;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0031;SF=20;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.984167|0.0158332|.;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05000000030504003e000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.902;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001098623.2|Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_2|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_001098623.2|NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon97:c.T22560C:p.L7520L,OBSCN:NM_001271223:exon108:c.T25431C:p.L8477L;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0201;esp6500siv2_ea=0.0280;esp6500siv2_all=0.0201;esp6500siv2_ea=0.0280;1000g2015aug_all=0.00519169;avsnp147=rs72762068;Kaviar_AF=0.0183051;Kaviar_AC=2830;Kaviar_AN=154602;ExAC_ALL=0.0186;ExAC_AFR=0.0041;ExAC_AMR=0.0098;ExAC_EAS=0.0001;ExAC_FIN=0.0305;ExAC_NFE=0.0261;ExAC_OTH=0.0190;ExAC_SAS=0.0078;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1560;dpsi_zscore=-0.594;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0186;gnomAD_exome_AFR=0.0038;gnomAD_exome_AMR=0.0097;gnomAD_exome_ASJ=0.0255;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0.0323;gnomAD_exome_NFE=0.0253;gnomAD_exome_OTH=0.0215;gnomAD_exome_SAS=0.0087;gnomAD_genome_ALL=0.0199;gnomAD_genome_AFR=0.0048;gnomAD_genome_AMR=0.0131;gnomAD_genome_ASJ=0.0167;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0306;gnomAD_genome_NFE=0.0283;gnomAD_genome_OTH=0.0255;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . 1:162:0,83 . . . . . . . . . . . . . . . . . . . . . 1 228563477 rs61730827 G A 200.00 . #_unique_end_positions=,45;#_unique_start_positions=,41;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0530;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0014;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001092093.2:p.Val7580Met|_NP_001258152.2:p.Val8537Met;Amino_acid_change_in_longest_transcript=,NP_001258152.2:p.Val8537Met;BaseQRankSum=,-0.16;CAF_dbsnp_common_v150_hg19_refseq=,0.9858|0.01418;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001098623.2:c.22738G>A|_NM_001271223.2:c.25609G>A;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.25609G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,78;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,OBSCN:84033;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001098623.2|NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5673|rna5672;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,228563477;RS_dbsnp_common_v150_hg19_refseq=,61730827;Read_count=,79;Read_coverage=,190;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9809728296310993;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001098623.2|NM_001271223.2;Reverse_read_coverage=,112;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=18;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.980868|0.0191317;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050100000a05150536000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.891;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001098623.2|Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_2|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_001098623.2|NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon98:c.G22738A:p.V7580M,OBSCN:NM_001271223:exon109:c.G25609A:p.V8537M;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0115;esp6500siv2_ea=.;esp6500siv2_all=0.0115;esp6500siv2_ea=.;1000g2015aug_all=0.0141773;avsnp147=rs61730827;Kaviar_AF=0.0039003;Kaviar_AC=603;Kaviar_AN=154602;ExAC_ALL=0.0041;ExAC_AFR=0.0485;ExAC_AMR=0.0015;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0001;ExAC_OTH=0.0023;ExAC_SAS=6.242e-05;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=0.959;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.207;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.994;MutationTaster_pred=N;MutationAssessor_score=1.5;MutationAssessor_pred=L;FATHMM_score=1.93;FATHMM_pred=T;PROVEAN_score=-1.77;PROVEAN_pred=N;VEST3_score=0.229;CADD_raw=6.443;CADD_phred=29.8;DANN_score=0.991;fathmm-MKL_coding_score=0.970;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.139;MetaSVM_pred=T;MetaLR_score=0.005;MetaLR_pred=T;integrated_fitCons_score=0.646;integrated_confidence_value=0;GERP++_RS=4.4;phyloP7way_vertebrate=0.913;phyloP20way_mammalian=-0.228;phastCons7way_vertebrate=0.997;phastCons20way_mammalian=0.969;SiPhy_29way_logOdds=14.107;GDI_full_10282015=.;dpsi_max_tissue=-0.4661;dpsi_zscore=-1.057;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0032;gnomAD_exome_AFR=0.0453;gnomAD_exome_AMR=0.0020;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0001;gnomAD_exome_OTH=0.0035;gnomAD_exome_SAS=6.5e-05;gnomAD_genome_ALL=0.0115;gnomAD_genome_AFR=0.0404;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.693e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . 1:172:0,70 . . . . . . . . . . . . . . . . . . . . . . . 1 228563773 rs200487547 C T 200.00 . #_unique_end_positions=,66;#_unique_start_positions=,67;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AN=1;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.43;Coding_region_change=,NM_001098623.2:c.22851C>T|_NM_001271223.2:c.25722C>T;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.25722C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;Exact_match=,1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,109;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001098623.2|NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5673|rna5672;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;Non-synonymous=,No;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;Read_count=,127;Read_coverage=,232;Read_direction_test_probability=,0.8189291138591653;Read_position_test_probability=,0.8645566004395645;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001098623.2|NM_001271223.2;Reverse_read_coverage=,123;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=29;conservation_score=,0.0;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001098623.2|Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_2|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_001098623.2|NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon99:c.C22851T:p.S7617S,OBSCN:NM_001271223:exon110:c.C25722T:p.S8574S;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0005;esp6500siv2_ea=0.0007;esp6500siv2_all=0.0005;esp6500siv2_ea=0.0007;1000g2015aug_all=0.000199681;avsnp147=rs200487547;Kaviar_AF=0.0005369;Kaviar_AC=83;Kaviar_AN=154602;ExAC_ALL=0.0006;ExAC_AFR=0.0002;ExAC_AMR=0.0019;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0006;ExAC_OTH=0.0034;ExAC_SAS=6.058e-05;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.2392;dpsi_zscore=-0.757;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0006;gnomAD_exome_AFR=6.545e-05;gnomAD_exome_AMR=0.0015;gnomAD_exome_ASJ=0.0046;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0004;gnomAD_exome_OTH=0.0009;gnomAD_exome_SAS=9.746e-05;gnomAD_genome_ALL=0.0003;gnomAD_genome_AFR=0.0002;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0003;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:214:0,118 . . . . . . . . . . . . 1 228564884 rs56174824 G A 200.00 . #_unique_end_positions=,74;#_unique_start_positions=,64;AC=6;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0983;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0432;AN=6;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001258152.2:p.Arg8681His|_NP_001092093.2:p.Arg7724His;Amino_acid_change_in_longest_transcript=,NP_001258152.2:p.Arg8681His;BaseQRankSum=,-0.77;CAF_dbsnp_common_v150_hg19_refseq=,0.8592|0.1408;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001098623.2:c.23171G>A|_NM_001271223.2:c.26042G>A;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.26042G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3085;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0974;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,155;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,OBSCN:84033;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001098623.2|NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5673|rna5672;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,228564884;RS_dbsnp_common_v150_hg19_refseq=,56174824;Read_count=,145;Read_coverage=,275;Read_direction_test_probability=,0.9892223527683537;Read_position_test_probability=,0.9930593823756356;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001098623.2|NM_001271223.2;Reverse_read_coverage=,120;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1391;SF=5,19,31,32,36;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.900124|0.0998764;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050100000a05150536000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.99;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001098623.2|Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_2|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_001098623.2|NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon101:c.G23171A:p.R7724H,OBSCN:NM_001271223:exon112:c.G26042A:p.R8681H;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0890;esp6500siv2_ea=0.0847;esp6500siv2_all=0.0890;esp6500siv2_ea=0.0847;1000g2015aug_all=0.140775;avsnp147=rs56174824;Kaviar_AF=0.101926;Kaviar_AC=15758;Kaviar_AN=154602;ExAC_ALL=0.1677;ExAC_AFR=0.1577;ExAC_AMR=0.0638;ExAC_EAS=0.4193;ExAC_FIN=0.2601;ExAC_NFE=0.1419;ExAC_OTH=0.1896;ExAC_SAS=0.1621;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=0.994;MutationTaster_pred=P;MutationAssessor_score=0.295;MutationAssessor_pred=N;FATHMM_score=1.03;FATHMM_pred=T;PROVEAN_score=1.23;PROVEAN_pred=N;VEST3_score=0.229;CADD_raw=1.749;CADD_phred=14.69;DANN_score=0.808;fathmm-MKL_coding_score=0.170;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.004;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.646;integrated_confidence_value=0;GERP++_RS=-2.4;phyloP7way_vertebrate=-0.310;phyloP20way_mammalian=-0.765;phastCons7way_vertebrate=0.492;phastCons20way_mammalian=0.973;SiPhy_29way_logOdds=11.412;GDI_full_10282015=.;dpsi_max_tissue=0.0253;dpsi_zscore=0.169;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1144;gnomAD_exome_AFR=0.1125;gnomAD_exome_AMR=0.0393;gnomAD_exome_ASJ=0.0733;gnomAD_exome_EAS=0.3311;gnomAD_exome_FIN=0.1954;gnomAD_exome_NFE=0.0935;gnomAD_exome_OTH=0.1038;gnomAD_exome_SAS=0.1366;gnomAD_genome_ALL=0.1225;gnomAD_genome_AFR=0.1074;gnomAD_genome_AMR=0.0525;gnomAD_genome_ASJ=0.1026;gnomAD_genome_EAS=0.3084;gnomAD_genome_FIN=0.1901;gnomAD_genome_NFE=0.0981;gnomAD_genome_OTH=0.1469;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . 1:247:0,134 . . . . . . . . . . . . . 1:223:0,123 . . . . . . . . . . . 1/1:176:0,176 1:237:0,102 . . . 1:195:0,73 . . . . . 1 228565208 rs55755045 C T 200.00 . #_unique_end_positions=,43;#_unique_start_positions=,44;AC=6;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0045;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0115;AN=6;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.12;CAF_dbsnp_common_v150_hg19_refseq=,0.9882|0.01178;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001098623.2:c.23298C>T|_NM_001271223.2:c.26169C>T;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.26169C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0288;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,56;GENEINFO_dbsnp_common_v150_hg19_refseq=,OBSCN:84033;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001098623.2|NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5673|rna5672;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;Non-synonymous=,No;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,228565208;RS_dbsnp_common_v150_hg19_refseq=,55755045;Read_count=,65;Read_coverage=,154;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.7156474843773382;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001098623.2|NM_001271223.2;Reverse_read_coverage=,98;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0164;SF=2,7,12,20,32,37;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.977847|0.0221528;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050100000305140536000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.001;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001098623.2|Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_2|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_001098623.2|NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon102:c.C23298T:p.S7766S,OBSCN:NM_001271223:exon113:c.C26169T:p.S8723S;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0263;esp6500siv2_ea=0.0354;esp6500siv2_all=0.0263;esp6500siv2_ea=0.0354;1000g2015aug_all=0.0117812;avsnp147=rs55755045;Kaviar_AF=0.0264744;Kaviar_AC=4093;Kaviar_AN=154602;ExAC_ALL=0.0315;ExAC_AFR=0.0070;ExAC_AMR=0.0116;ExAC_EAS=0;ExAC_FIN=0.0314;ExAC_NFE=0.0437;ExAC_OTH=0.0272;ExAC_SAS=0.0254;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0757;dpsi_zscore=-0.369;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0254;gnomAD_exome_AFR=0.0056;gnomAD_exome_AMR=0.0104;gnomAD_exome_ASJ=0.0154;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0.0257;gnomAD_exome_NFE=0.0385;gnomAD_exome_OTH=0.0225;gnomAD_exome_SAS=0.0224;gnomAD_genome_ALL=0.0272;gnomAD_genome_AFR=0.0071;gnomAD_genome_AMR=0.0155;gnomAD_genome_ASJ=0.0232;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0246;gnomAD_genome_NFE=0.0430;gnomAD_genome_OTH=0.0305;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . 1:147:0,63 . . . . 1:167:0,90 . . . . 1:170:0,83 . . . . . . . 1:149:0,71 . . . . . . . . . . . 1:155:0,71 . . . . 1:116:0,56 . . . . 1 228565329 rs61730829 G A 200.00 . #_unique_end_positions=,54;#_unique_start_positions=,47;AC=2;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0043;AN=2;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001258152.2:p.Val8764Ile|_NP_001092093.2:p.Val7807Ile;Amino_acid_change_in_longest_transcript=,NP_001258152.2:p.Val8764Ile;BaseQRankSum=,-0.51;CAF_dbsnp_common_v150_hg19_refseq=,0.995|0.004992;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001098623.2:c.23419G>A|_NM_001271223.2:c.26290G>A;Coding_region_change_in_longest_transcript=,NM_001271223.2:c.26290G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0219;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,89;GENEINFO_dbsnp_common_v150_hg19_refseq=,OBSCN:84033;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84033;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84033;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15719;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15719;Homo_sapiens_refseq_GRCh37.p13_Genes=,OBSCN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001098623.2|NM_001271223.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3610;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5673|rna5672;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608616;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608616;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3610;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,228565329;RS_dbsnp_common_v150_hg19_refseq=,61730829;Read_count=,79;Read_coverage=,187;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.6659857156918851;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001098623.2|NM_001271223.2;Reverse_read_coverage=,98;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=15,35;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.98791|0.0120896;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050100000a05040536000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.49;db_xref=,GeneID:84033|HGNC:HGNC:15719|MIM:608616;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001098623.2|Genbank:NM_001271223.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,OBSCN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,OBSCN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARHGEF30|UNC89;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_2|obscurin|_cytoskeletal_calmodulin_and_titin-interacting_RhoGEF|_transcript_variant_IC;transcript_id=,NM_001098623.2|NM_001271223.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon102:c.G23419A:p.V7807I,OBSCN:NM_001271223:exon113:c.G26290A:p.V8764I;cytoBand=1q42.13;genomicSuperDups=.;esp6500siv2_all=0.0167;esp6500siv2_ea=0.0231;esp6500siv2_all=0.0167;esp6500siv2_ea=0.0231;1000g2015aug_all=0.00499201;avsnp147=rs61730829;Kaviar_AF=0.0152197;Kaviar_AC=2353;Kaviar_AN=154602;ExAC_ALL=0.0149;ExAC_AFR=0.0031;ExAC_AMR=0.0063;ExAC_EAS=0;ExAC_FIN=0.0257;ExAC_NFE=0.0222;ExAC_OTH=0.0123;ExAC_SAS=0.0018;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.461;SIFT_pred=T;Polyphen2_HDIV_score=0.002;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.007;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.999;MutationTaster_pred=N;MutationAssessor_score=-0.985;MutationAssessor_pred=N;FATHMM_score=1.38;FATHMM_pred=T;PROVEAN_score=-0.08;PROVEAN_pred=N;VEST3_score=0.325;CADD_raw=3.334;CADD_phred=22.9;DANN_score=0.937;fathmm-MKL_coding_score=0.599;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.978;MetaSVM_pred=T;MetaLR_score=0.011;MetaLR_pred=T;integrated_fitCons_score=0.677;integrated_confidence_value=0;GERP++_RS=0.569;phyloP7way_vertebrate=0.069;phyloP20way_mammalian=-0.310;phastCons7way_vertebrate=0.953;phastCons20way_mammalian=0.347;SiPhy_29way_logOdds=5.117;GDI_full_10282015=.;dpsi_max_tissue=0.1681;dpsi_zscore=0.657;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0151;gnomAD_exome_AFR=0.0031;gnomAD_exome_AMR=0.0091;gnomAD_exome_ASJ=0.0172;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0243;gnomAD_exome_NFE=0.0225;gnomAD_exome_OTH=0.0172;gnomAD_exome_SAS=0.0019;gnomAD_genome_ALL=0.0134;gnomAD_genome_AFR=0.0044;gnomAD_genome_AMR=0.0119;gnomAD_genome_ASJ=0.0199;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0209;gnomAD_genome_NFE=0.0180;gnomAD_genome_OTH=0.0173;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . . . . . . . 1:170:0,71 . . . . . . . . . . . . . . . . . . . 1:180:0,82 . . . . . . 1 236882303 43937;rs1341864 T C 191.19 . #_unique_end_positions=,55;#_unique_start_positions=,43;AC=84;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9750;ALLELEID_clinvar_20171029_hg19=,53106;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9957;AN=84;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;CAF_dbsnp_common_v150_hg19_refseq=,0.007388|0.9926;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000001.10:g.236882303T>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_single_submitter;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001103.3:c.351T>C|_NM_001278343.1:c.351T>C|_NM_001278344.1:c.-471T>C;Coding_region_change_in_longest_transcript=,NM_001278344.1:c.-471T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,1.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9990;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,36;GENEINFO_dbsnp_common_v150_hg19_refseq=,ACTN2:88;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:88;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:88;Genotype=,C/C;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:164;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:164;Homo_sapiens_refseq_GRCh37.p13_Genes=,ACTN2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001278343.1|NM_001103.3|NM_001278344.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3760;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5873|rna5874|rna5872;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001623|5_prime_UTR_variant|SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:102573;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:102573;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_2_substitutions_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3760;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,236882303;RS_dbsnp_common_v150_hg19_refseq=,1341864;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,104;Read_coverage=,104;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001278343.1|NM_001103.3|NM_001278344.1;Reverse_read_coverage=,68;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,1.0000;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.00941063|0.990589;U5_dbsnp_common_v150_hg19_refseq=,U5;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05016840030504053f100100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,1;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,1;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,1;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.974576;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.973;db_xref=,GeneID:88|HGNC:HGNC:164|MIM:102573;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:00019;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001278343.1|HPRD:00019|Genbank:NM_001103.3|Genbank:NM_001278344.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,actinin_alpha_2;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ACTN2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,ACTN2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1AA|CMH23;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,actinin_alpha_2|_transcript_variant_2|actinin_alpha_2|_transcript_variant_1|actinin_alpha_2|_transcript_variant_3;transcript_id=,NM_001278343.1|NM_001103.3|NM_001278344.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=ACTN2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ACTN2:NM_001103:exon3:c.T351C:p.I117I,ACTN2:NM_001278343:exon3:c.T351C:p.I117I;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=0.9922;esp6500siv2_ea=0.9998;esp6500siv2_all=0.9922;esp6500siv2_ea=0.9998;1000g2015aug_all=0.992612;avsnp147=rs1341864;Kaviar_AF=0.95645;Kaviar_AC=147869;Kaviar_AN=154602;ExAC_ALL=0.9979;ExAC_AFR=0.9772;ExAC_AMR=0.9990;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9999;ExAC_OTH=1;ExAC_SAS=1;CLNALLELEID=53106;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.7587;dpsi_zscore=1.357;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.9984;gnomAD_exome_AFR=0.9784;gnomAD_exome_AMR=0.9988;gnomAD_exome_ASJ=1;gnomAD_exome_EAS=0.9999;gnomAD_exome_FIN=1;gnomAD_exome_NFE=1.0000;gnomAD_exome_OTH=0.9989;gnomAD_exome_SAS=1.0000;gnomAD_genome_ALL=0.9933;gnomAD_genome_AFR=0.9767;gnomAD_genome_AMR=1;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=1;gnomAD_genome_FIN=1;gnomAD_genome_NFE=1;gnomAD_genome_OTH=0.9969;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1/1:88:0,88 1/1:93:0,93 1/1:108:0,108 1/1:112:0,112 1/1:89:0,89 1/1:107:0,107 1/1:80:0,80 1/1:92:0,92 1/1:132:0,132 1/1:87:0,87 1/1:128:0,128 1/1:97:0,97 1/1:124:0,124 1/1:112:0,112 1/1:151:0,151 1/1:133:0,133 1/1:135:0,135 1/1:109:0,109 1/1:123:0,123 1/1:126:0,126 1/1:104:0,104 1/1:137:0,137 1/1:173:0,173 1/1:146:0,146 1/1:139:0,139 1/1:93:0,93 1/1:113:0,113 1/1:123:0,122 1/1:152:0,152 1/1:128:0,128 1/1:133:0,133 1/1:71:0,70 1/1:125:0,125 1/1:88:0,88 1/1:119:0,119 1/1:103:0,103 1/1:117:0,117 1/1:83:0,83 1/1:106:0,106 1/1:113:0,113 1/1:142:0,142 1/1:97:0,97 1 236883421 43938;rs1341863 C T 81.00 . #_unique_end_positions=,19;#_unique_start_positions=,13;AC=77;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.8139;ALLELEID_clinvar_20171029_hg19=,53107;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.8559;AN=77;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.25;CAF_dbsnp_common_v150_hg19_refseq=,0.07927|0.9207;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000001.10:g.236883421C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_single_submitter;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001103.3:c.378C>T|_NM_001278343.1:c.378C>T|_NM_001278344.1:c.-444C>T;Coding_region_change_in_longest_transcript=,NM_001278344.1:c.-444C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9831;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9960;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,13;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,ACTN2:88;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:88;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:88;Genotype=,T/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:164;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:164;Homo_sapiens_refseq_GRCh37.p13_Genes=,ACTN2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001278343.1|NM_001103.3|NM_001278344.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3760;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5873|rna5874|rna5872;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001623|5_prime_UTR_variant|SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:102573;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:102573;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_2_substitutions_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3760;QUAL=,89.33166098076308;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,236883421;RS_dbsnp_common_v150_hg19_refseq=,1341863;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,20;Read_coverage=,20;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001278343.1|NM_001103.3|NM_001278344.1;Reverse_read_coverage=,7;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9693;SF=0,2,3,4,5,6,7,8,9,10,12,13,14,15,16,17,18,19,20,21,22,24,25,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.0909122|0.909088;U5_dbsnp_common_v150_hg19_refseq=,U5;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05016840030515053f100101;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.857143;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.991525;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.939024;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.976471;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.971591;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,1;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.955556;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.9;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.88;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.888112;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.783333;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.924;db_xref=,GeneID:88|HGNC:HGNC:164|MIM:102573;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:00019;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001278343.1|HPRD:00019|Genbank:NM_001103.3|Genbank:NM_001278344.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,actinin_alpha_2;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ACTN2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,ACTN2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1AA|CMH23;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,actinin_alpha_2|_transcript_variant_2|actinin_alpha_2|_transcript_variant_1|actinin_alpha_2|_transcript_variant_3;transcript_id=,NM_001278343.1|NM_001103.3|NM_001278344.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=ACTN2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ACTN2:NM_001103:exon4:c.C378T:p.N126N,ACTN2:NM_001278343:exon4:c.C378T:p.N126N;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=0.9377;esp6500siv2_ea=0.9953;esp6500siv2_all=0.9377;esp6500siv2_ea=0.9953;1000g2015aug_all=0.920727;avsnp147=rs1341863;Kaviar_AF=0.949224;Kaviar_AC=146752;Kaviar_AN=154602;ExAC_ALL=0.9624;ExAC_AFR=0.8184;ExAC_AMR=0.8618;ExAC_EAS=0.9812;ExAC_FIN=0.9868;ExAC_NFE=0.9953;ExAC_OTH=0.9758;ExAC_SAS=0.9703;CLNALLELEID=53107;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.2823;dpsi_zscore=-1.619;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.9618;gnomAD_exome_AFR=0.8160;gnomAD_exome_AMR=0.8706;gnomAD_exome_ASJ=0.9999;gnomAD_exome_EAS=0.9799;gnomAD_exome_FIN=0.9881;gnomAD_exome_NFE=0.9951;gnomAD_exome_OTH=0.9684;gnomAD_exome_SAS=0.9707;gnomAD_genome_ALL=0.9373;gnomAD_genome_AFR=0.8084;gnomAD_genome_AMR=0.8900;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=0.9790;gnomAD_genome_FIN=0.9871;gnomAD_genome_NFE=0.9949;gnomAD_genome_OTH=0.9755;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1/1:20:0,20 . 1/1:14:0,14 1/1:16:0,16 1/1:15:0,15 1/1:13:0,13 1/1:12:0,12 1/1:12:0,12 1/1:23:0,23 1/1:21:0,21 1/1:18:0,18 . 1/1:13:0,13 1/1:19:0,19 1/1:19:0,19 1/1:18:0,18 1:26:0,9 1/1:16:0,16 1/1:15:0,15 1/1:13:0,13 1/1:21:0,21 1/1:21:0,21 1/1:19:0,19 . 1/1:15:0,15 1/1:14:0,14 1/1:18:0,18 1/1:18:0,18 1/1:26:0,26 1/1:18:0,18 1/1:15:0,15 1/1:16:0,16 1/1:19:0,19 1/1:12:0,12 1/1:29:0,29 1/1:16:0,16 1/1:19:0,19 1/1:17:0,17 1/1:17:0,17 1/1:20:0,20 1/1:16:0,16 1/1:21:0,21 1 236902652 43952;rs145411160 C T 200.00 . #_unique_end_positions=,55;#_unique_start_positions=,40;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0008;AF_ESP_clinvar_20171029_hg19=,0.0005;AF_EXAC_clinvar_20171029_hg19=,0.00015;AF_TGP_clinvar_20171029_hg19=,0.0002;ALLELEID_clinvar_20171029_hg19=,53121;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AN=1;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.08;CLNDISDB_clinvar_20171029_hg19=,MedGen:C0949658|Orphanet:ORPHA155|SNOMED_CT:83978005|MedGen:C2677338|OMIM:612158|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Primary_familial_hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1AA|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000001.10:g.236902652C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;Coding_region_change=,NM_001103.3:c.927C>T|_NM_001278343.1:c.927C>T|_NM_001278344.1:c.303C>T;Coding_region_change_in_longest_transcript=,NM_001278344.1:c.303C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;Exact_match=,clinvar_20171029_hg19|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,177;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:88;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:88;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:164;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:164;Homo_sapiens_refseq_GRCh37.p13_Genes=,ACTN2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001278343.1|NM_001103.3|NM_001278344.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3760;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5873|rna5874|rna5872;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:102573;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:102573;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_2_substitutions_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3760;QUAL=,200.0;Read_count=,102;Read_coverage=,230;Read_direction_test_probability=,0.8719360413937363;Read_position_test_probability=,0.8587957701467811;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001278343.1|NM_001103.3|NM_001278344.1;Reverse_read_coverage=,53;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=22;conservation_score=,0.952;db_xref=,GeneID:88|HGNC:HGNC:164|MIM:102573;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:00019;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001278343.1|HPRD:00019|Genbank:NM_001103.3|Genbank:NM_001278344.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,actinin_alpha_2;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ACTN2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,ACTN2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1AA|CMH23;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,actinin_alpha_2|_transcript_variant_2|actinin_alpha_2|_transcript_variant_1|actinin_alpha_2|_transcript_variant_3;transcript_id=,NM_001278343.1|NM_001103.3|NM_001278344.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=ACTN2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ACTN2:NM_001103:exon10:c.C927T:p.P309P,ACTN2:NM_001278343:exon10:c.C927T:p.P309P,ACTN2:NM_001278344:exon12:c.C303T:p.P101P;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=0.0005;esp6500siv2_ea=.;esp6500siv2_all=0.0005;esp6500siv2_ea=.;1000g2015aug_all=0.000199681;avsnp147=rs145411160;Kaviar_AF=0.0001229;Kaviar_AC=19;Kaviar_AN=154602;ExAC_ALL=0.0001;ExAC_AFR=0.0015;ExAC_AMR=0.0002;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=53121;CLNDN=Primary_familial_hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1AA|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C2677338,OMIM:612158|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.5698;dpsi_zscore=1.201;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0001;gnomAD_exome_AFR=0.0014;gnomAD_exome_AMR=8.933e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=5.798e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=8.954e-06;gnomAD_exome_OTH=0;gnomAD_exome_SAS=3.249e-05;gnomAD_genome_ALL=0.0005;gnomAD_genome_AFR=0.0017;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . 1:218:0,97 . . . . . . . . . . . . . . . . . . . 1 236911022 . G A 137.14 . #_unique_end_positions=,17;#_unique_start_positions=,12;AC=1;AN=1;Amino_acid_change=,NP_001094.1:p.Asp488Asn|_NP_001265272.1:p.Asp488Asn|_NP_001265273.1:p.Asp280Asn;Amino_acid_change_in_longest_transcript=,NP_001265273.1:p.Asp280Asn;BaseQRankSum=,0.0;Coding_region_change=,NM_001103.3:c.1462G>A|_NM_001278343.1:c.1462G>A|_NM_001278344.1:c.838G>A;Coding_region_change_in_longest_transcript=,NM_001278344.1:c.838G>A;Forward_read_coverage=,19;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:88;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:88;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:164;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:164;Homo_sapiens_refseq_GRCh37.p13_Genes=,ACTN2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001278343.1|NM_001103.3|NM_001278344.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3760;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5873|rna5874|rna5872;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:102573;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:102573;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_2_substitutions_compared_to_this_genomic_sequence;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3760;QUAL=,137.14040521908404;Read_count=,20;Read_coverage=,42;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9861558006994983;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001278343.1|NM_001103.3|NM_001278344.1;Reverse_read_coverage=,23;SF=13;conservation_score=,1.0;db_xref=,GeneID:88|HGNC:HGNC:164|MIM:102573;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:00019;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001278343.1|HPRD:00019|Genbank:NM_001103.3|Genbank:NM_001278344.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,actinin_alpha_2;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ACTN2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,ACTN2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1AA|CMH23;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,actinin_alpha_2|_transcript_variant_2|actinin_alpha_2|_transcript_variant_1|actinin_alpha_2|_transcript_variant_3;transcript_id=,NM_001278343.1|NM_001103.3|NM_001278344.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=ACTN2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=ACTN2:NM_001103:exon13:c.G1462A:p.D488N,ACTN2:NM_001278343:exon13:c.G1462A:p.D488N,ACTN2:NM_001278344:exon15:c.G838A:p.D280N;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.17;SIFT_pred=T;Polyphen2_HDIV_score=0.628;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.681;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.18;MutationAssessor_pred=M;FATHMM_score=0.67;FATHMM_pred=T;PROVEAN_score=-2.87;PROVEAN_pred=D;VEST3_score=0.185;CADD_raw=5.467;CADD_phred=26.2;DANN_score=0.999;fathmm-MKL_coding_score=0.990;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.782;MetaSVM_pred=T;MetaLR_score=0.264;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.73;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.036;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=0.998;SiPhy_29way_logOdds=20.270;GDI_full_10282015=.;dpsi_max_tissue=-3.8862;dpsi_zscore=-2.328;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=7 GT:DP:CLCAD2 . . . . . . . . . . . . . 1:38:0,20 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 236925844 43933;rs12063382 G A 187.67 . #_unique_end_positions=,22;#_unique_start_positions=,21;AC=7;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2057;AF_ESP_clinvar_20171029_hg19=,0.1557;AF_EXAC_clinvar_20171029_hg19=,0.16881;AF_TGP_clinvar_20171029_hg19=,0.1961;ALLELEID_clinvar_20171029_hg19=,53102;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1729;AN=7;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.8039|0.1961;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant;CLNHGVS_clinvar_20171029_hg19=,NC_000001.10:g.236925844G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:835725;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001103.3:c.2610G>A|_NM_001278343.1:c.2610G>A|_NM_001278344.1:c.1986G>A;Coding_region_change_in_longest_transcript=,NM_001278344.1:c.1986G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2183;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1710;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,31;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,ACTN2:88;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:88;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:88;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:164;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:164;Homo_sapiens_refseq_GRCh37.p13_Genes=,ACTN2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001278343.1|NM_001103.3|NM_001278344.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3760;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5873|rna5874|rna5872;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:102573;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:102573;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_2_substitutions_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3760;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,236925844;RS_dbsnp_common_v150_hg19_refseq=,12063382;Read_count=,33;Read_coverage=,76;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.985353386875454;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001278343.1|NM_001103.3|NM_001278344.1;Reverse_read_coverage=,45;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2025;SF=1,6,7,14,15,29,39;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.843625|0.156375;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05032800030517053e000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.059;db_xref=,GeneID:88|HGNC:HGNC:164|MIM:102573;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:00019;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001278343.1|HPRD:00019|Genbank:NM_001103.3|Genbank:NM_001278344.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,actinin_alpha_2;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ACTN2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,ACTN2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1AA|CMH23;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,actinin_alpha_2|_transcript_variant_2|actinin_alpha_2|_transcript_variant_1|actinin_alpha_2|_transcript_variant_3;transcript_id=,NM_001278343.1|NM_001103.3|NM_001278344.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=ACTN2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ACTN2:NM_001103:exon21:c.G2610A:p.S870S,ACTN2:NM_001278343:exon21:c.G2610A:p.S870S,ACTN2:NM_001278344:exon23:c.G1986A:p.S662S;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=0.1557;esp6500siv2_ea=0.1392;esp6500siv2_all=0.1557;esp6500siv2_ea=0.1392;1000g2015aug_all=0.196086;avsnp147=rs12063382;Kaviar_AF=0.164118;Kaviar_AC=25373;Kaviar_AN=154602;ExAC_ALL=0.1688;ExAC_AFR=0.1919;ExAC_AMR=0.2017;ExAC_EAS=0.1860;ExAC_FIN=0.2220;ExAC_NFE=0.1447;ExAC_OTH=0.1537;ExAC_SAS=0.1991;CLNALLELEID=53102;CLNDN=Hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1AA|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2677338,OMIM:612158|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1685;gnomAD_exome_AFR=0.1930;gnomAD_exome_AMR=0.1948;gnomAD_exome_ASJ=0.0815;gnomAD_exome_EAS=0.1844;gnomAD_exome_FIN=0.2177;gnomAD_exome_NFE=0.1441;gnomAD_exome_OTH=0.1603;gnomAD_exome_SAS=0.2007;gnomAD_genome_ALL=0.1656;gnomAD_genome_AFR=0.1811;gnomAD_genome_AMR=0.1862;gnomAD_genome_ASJ=0.06;gnomAD_genome_EAS=0.1999;gnomAD_genome_FIN=0.2156;gnomAD_genome_NFE=0.1429;gnomAD_genome_OTH=0.1537;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 . 1:64:0,28 . . . . 1:61:0,31 1:75:0,34 . . . . . . 1:125:0,51 1:74:0,40 . . . . . . . . . . . . . 1:106:0,45 . . . . . . . . . 1:74:0,50 . . 1 237617737 . T C 200.00 . #_unique_end_positions=,26;#_unique_start_positions=,25;AC=1;AN=1;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.08;Coding_region_change=,NM_001035.2:c.1339T>C;Coding_region_change_in_longest_transcript=,NM_001035.2:c.1339T>C;Forward_read_coverage=,37;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:6262;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:6262;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:10484;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:10484;Homo_sapiens_refseq_GRCh37.p13_Genes=,RYR2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001035.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3765;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5879;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:180902;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:180902;Non-synonymous=,No;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3765;QUAL=,200.0;Read_count=,36;Read_coverage=,92;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.4601511078400825;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001035.2;Reverse_read_coverage=,55;SF=34;conservation_score=,0.002;db_xref=,GeneID:6262|HGNC:HGNC:10484|MIM:180902;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001035.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ryanodine_receptor_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,RYR2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,RYR2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARVC2|ARVD2|RyR|RYR-2|VTSIP;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,ryanodine_receptor_2;transcript_id=,NM_001035.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon15:c.T1339C:p.L447L;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs770602442;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;ExAC_ALL=1.661e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=3.004e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0359;dpsi_zscore=0.229;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=8.176e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=1.806e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:80:0,32 . . . . . . . 1 237617757 43728;rs3765097 C T 177.14 . #_unique_end_positions=,55;#_unique_start_positions=,42;AC=39;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2769;ALLELEID_clinvar_20171029_hg19=,52897;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5447;AN=39;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.22;CAF_dbsnp_common_v150_hg19_refseq=,0.4643|0.5357;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1631597|Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNDN_clinvar_20171029_hg19=,Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy|_ARVC;CLNHGVS_clinvar_20171029_hg19=,NC_000001.10:g.237617757C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:4273;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001035.2:c.1359C>T;Coding_region_change_in_longest_transcript=,NM_001035.2:c.1359C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7391;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5994;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,30;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,RYR2:6262;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:6262;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:6262;Genotype=,T/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:10484;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:10484;Homo_sapiens_refseq_GRCh37.p13_Genes=,RYR2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001035.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3765;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5879;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:180902;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:180902;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3765;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,237617757;RS_dbsnp_common_v150_hg19_refseq=,3765097;Read_count=,72;Read_coverage=,72;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001035.2;Reverse_read_coverage=,42;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6043;SF=0,1,2,3,4,6,10,11,12,13,14,15,16,17,19,20,21,22,23,25,26,27,28,30,32,33,36,37,38,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.537333|0.462667;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05032800030517053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.316327;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.583333;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.707317;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.7;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.670455;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.811111;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.8;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.244444;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.63;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.213287;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.607955;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.241667;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.845;db_xref=,GeneID:6262|HGNC:HGNC:10484|MIM:180902;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001035.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ryanodine_receptor_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,RYR2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,RYR2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARVC2|ARVD2|RyR|RYR-2|VTSIP;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,ryanodine_receptor_2;transcript_id=,NM_001035.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon15:c.C1359T:p.S453S;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=0.5119;esp6500siv2_ea=0.6005;esp6500siv2_all=0.5119;esp6500siv2_ea=0.6005;1000g2015aug_all=0.535743;avsnp147=rs3765097;Kaviar_AF=0.569876;Kaviar_AC=88104;Kaviar_AN=154602;ExAC_ALL=0.5755;ExAC_AFR=0.305;ExAC_AMR=0.6026;ExAC_EAS=0.7367;ExAC_FIN=0.5985;ExAC_NFE=0.5907;ExAC_OTH=0.5813;ExAC_SAS=0.5625;CLNALLELEID=52897;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0556;dpsi_zscore=-0.290;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.5819;gnomAD_exome_AFR=0.3052;gnomAD_exome_AMR=0.6039;gnomAD_exome_ASJ=0.5850;gnomAD_exome_EAS=0.7291;gnomAD_exome_FIN=0.5915;gnomAD_exome_NFE=0.5953;gnomAD_exome_OTH=0.5683;gnomAD_exome_SAS=0.5589;gnomAD_genome_ALL=0.5238;gnomAD_genome_AFR=0.3184;gnomAD_genome_AMR=0.5897;gnomAD_genome_ASJ=0.6033;gnomAD_genome_EAS=0.7073;gnomAD_genome_FIN=0.5894;gnomAD_genome_NFE=0.5988;gnomAD_genome_OTH=0.5867;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1/1:66:0,66 1:69:0,33 1:48:0,20 1:55:0,23 1:61:0,20 . 1:43:0,17 . . . 1:85:0,36 1:79:0,35 1:61:0,34 1:54:0,24 1:101:0,54 1:72:0,31 1/1:75:0,75 1/1:65:0,65 . 1:51:0,20 1:72:0,29 1:55:0,23 1/1:64:0,64 1:74:0,37 . 1/1:56:0,56 1/1:58:0,58 1:69:0,35 1:78:0,40 . 1:59:0,25 . 1:58:0,21 1:43:0,17 . . 1/1:54:0,54 1/1:59:0,59 1:62:0,31 . . 1/1:62:0,62 1 237617790 427953 C A 135.01 . #_unique_end_positions=,19;#_unique_start_positions=,16;AC=1;ALLELEID_clinvar_20171029_hg19=,419263;AN=1;Amino_acid_change=,NP_001026.2:p.His464Gln;Amino_acid_change_in_longest_transcript=,NP_001026.2:p.His464Gln;BaseQRankSum=,0.0;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy;CLNHGVS_clinvar_20171029_hg19=,NC_000001.10:g.237617790C>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_single_submitter;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;Coding_region_change=,NM_001035.2:c.1392C>A;Coding_region_change_in_longest_transcript=,NM_001035.2:c.1392C>A;Exact_match=,clinvar_20171029_hg19;Forward_read_coverage=,20;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:6262;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:6262;Genotype=,A/C;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:10484;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:10484;Homo_sapiens_refseq_GRCh37.p13_Genes=,RYR2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001035.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3765;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5879;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:180902;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:180902;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3765;QUAL=,135.01271430143964;Read_count=,21;Read_coverage=,50;Read_direction_test_probability=,0.6316277893530742;Read_position_test_probability=,0.5187380661532387;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001035.2;Reverse_read_coverage=,30;SF=36;conservation_score=,0.998;db_xref=,GeneID:6262|HGNC:HGNC:10484|MIM:180902;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001035.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ryanodine_receptor_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,RYR2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,RYR2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARVC2|ARVD2|RyR|RYR-2|VTSIP;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,ryanodine_receptor_2;transcript_id=,NM_001035.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon15:c.C1392A:p.H464Q;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs749032742;Kaviar_AF=3.88e-05;Kaviar_AC=6;Kaviar_AN=154602;ExAC_ALL=4.988e-05;ExAC_AFR=0;ExAC_AMR=0.0002;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=6.008e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=419263;CLNDN=Hypertrophic_cardiomyopathy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.744;SIFT_pred=T;Polyphen2_HDIV_score=0.145;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.111;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=U;MutationTaster_score=0.981;MutationTaster_pred=D;MutationAssessor_score=-1.265;MutationAssessor_pred=N;FATHMM_score=-2.46;FATHMM_pred=D;PROVEAN_score=-0.82;PROVEAN_pred=N;VEST3_score=0.144;CADD_raw=-0.132;CADD_phred=1.506;DANN_score=0.477;fathmm-MKL_coding_score=0.215;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.803;MetaSVM_pred=T;MetaLR_score=0.264;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=2.5;phyloP7way_vertebrate=0.033;phyloP20way_mammalian=0.927;phastCons7way_vertebrate=0.994;phastCons20way_mammalian=0.992;SiPhy_29way_logOdds=7.096;GDI_full_10282015=.;dpsi_max_tissue=0.0924;dpsi_zscore=0.460;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM176378#"Myocarditis_acute";gnomAD_exome_ALL=5.294e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=8.968e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=6.291e-05;gnomAD_exome_OTH=0.0005;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:47:0,20 . . . . . 1 237617793 rs111990043 C A 200.00 . #_unique_end_positions=,22;#_unique_start_positions=,24;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0;AN=1;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.41;Coding_region_change=,NM_001035.2:c.1395C>A;Coding_region_change_in_longest_transcript=,NM_001035.2:c.1395C>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0;Exact_match=,1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,32;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:6262;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:6262;Genotype=,A/C;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:10484;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:10484;Homo_sapiens_refseq_GRCh37.p13_Genes=,RYR2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001035.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3765;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5879;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:180902;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:180902;Non-synonymous=,No;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3765;QUAL=,200.0;Read_count=,37;Read_coverage=,69;Read_direction_test_probability=,0.9862208974280121;Read_position_test_probability=,0.6899282274023893;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001035.2;Reverse_read_coverage=,37;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0;SF=41;conservation_score=,0.026;db_xref=,GeneID:6262|HGNC:HGNC:10484|MIM:180902;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001035.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ryanodine_receptor_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,RYR2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,RYR2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARVC2|ARVD2|RyR|RYR-2|VTSIP;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,ryanodine_receptor_2;transcript_id=,NM_001035.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon15:c.C1395A:p.P465P;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs111990043;Kaviar_AF=4.53e-05;Kaviar_AC=7;Kaviar_AN=154602;ExAC_ALL=5.819e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=4.506e-05;ExAC_OTH=0;ExAC_SAS=0.0002;CLNALLELEID=447610;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1737;dpsi_zscore=0.670;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.886e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=3.594e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0.0003;gnomAD_genome_ALL=3.23e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.666e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:62:0,33 1 237656289 36737;rs17686573 C T 200.00 . #_unique_end_positions=,23;#_unique_start_positions=,21;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0062;AF_EXAC_clinvar_20171029_hg19=,0.00756;AF_TGP_clinvar_20171029_hg19=,0.0022;ALLELEID_clinvar_20171029_hg19=,45398;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0029;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.03;CAF_dbsnp_common_v150_hg19_refseq=,0.9978|0.002196;CLNDISDB_clinvar_20171029_hg19=,MedGen:C0878544|Orphanet:ORPHA167848|SNOMED_CT:85898001|MedGen:C1631597|Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNDN_clinvar_20171029_hg19=,Cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy|_ARVC;CLNHGVS_clinvar_20171029_hg19=,NC_000001.10:g.237656289C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:98425;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001035.2:c.1863C>T;Coding_region_change_in_longest_transcript=,NM_001035.2:c.1863C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0089;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,31;GENEINFO_dbsnp_common_v150_hg19_refseq=,RYR2:6262;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:6262;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:6262;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:10484;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:10484;Homo_sapiens_refseq_GRCh37.p13_Genes=,RYR2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001035.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3765;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5879;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:180902;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:180902;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3765;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,237656289;RS_dbsnp_common_v150_hg19_refseq=,17686573;Read_count=,30;Read_coverage=,63;Read_direction_test_probability=,0.7774515293550106;Read_position_test_probability=,0.8990893369734005;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001035.2;Reverse_read_coverage=,32;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=5;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.995123|0.00487704;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050168000305040537100100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.997;db_xref=,GeneID:6262|HGNC:HGNC:10484|MIM:180902;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001035.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ryanodine_receptor_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,RYR2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,RYR2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARVC2|ARVD2|RyR|RYR-2|VTSIP;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,ryanodine_receptor_2;transcript_id=,NM_001035.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon19:c.C1863T:p.H621H;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=0.0061;esp6500siv2_ea=0.0083;esp6500siv2_all=0.0061;esp6500siv2_ea=0.0083;1000g2015aug_all=0.00219649;avsnp147=rs17686573;Kaviar_AF=0.0048124;Kaviar_AC=744;Kaviar_AN=154602;ExAC_ALL=0.0076;ExAC_AFR=0.0013;ExAC_AMR=0.0124;ExAC_EAS=0;ExAC_FIN=0.0013;ExAC_NFE=0.0117;ExAC_OTH=0.0073;ExAC_SAS=0.0023;CLNALLELEID=45398;CLNDN=Cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1668;dpsi_zscore=-0.618;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0047;gnomAD_exome_AFR=0.0008;gnomAD_exome_AMR=0.0057;gnomAD_exome_ASJ=0.0037;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0007;gnomAD_exome_NFE=0.0072;gnomAD_exome_OTH=0.0076;gnomAD_exome_SAS=0.0017;gnomAD_genome_ALL=0.0032;gnomAD_genome_AFR=0.0015;gnomAD_genome_AMR=0.0048;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0006;gnomAD_genome_NFE=0.0052;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . 1:62:0,29 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 237670107 179436 A G 63.20 . #_unique_end_positions=,10;#_unique_start_positions=,10;AC=1;AF_EXAC_clinvar_20171029_hg19=,0.00012;ALLELEID_clinvar_20171029_hg19=,172547;AN=1;Amino_acid_change=,NP_001026.2:p.Tyr904Cys;Amino_acid_change_in_longest_transcript=,NP_001026.2:p.Tyr904Cys;BaseQRankSum=,0.24;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374|MedGen:CN517202;CLNDN_clinvar_20171029_hg19=,not_specified|not_provided;CLNHGVS_clinvar_20171029_hg19=,NC_000001.10:g.237670107A>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;Coding_region_change=,NM_001035.2:c.2711A>G;Coding_region_change_in_longest_transcript=,NM_001035.2:c.2711A>G;Exact_match=,clinvar_20171029_hg19;Forward_read_coverage=,17;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:6262;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:6262;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:10484;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:10484;Homo_sapiens_refseq_GRCh37.p13_Genes=,RYR2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001035.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3765;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5879;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:180902;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:180902;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3765;QUAL=,63.20274032899281;Read_count=,12;Read_coverage=,33;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9133885440872419;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001035.2;Reverse_read_coverage=,16;SF=21;conservation_score=,1.0;db_xref=,GeneID:6262|HGNC:HGNC:10484|MIM:180902;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001035.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ryanodine_receptor_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,RYR2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,RYR2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARVC2|ARVD2|RyR|RYR-2|VTSIP;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,ryanodine_receptor_2;transcript_id=,NM_001035.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon23:c.A2711G:p.Y904C;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs201131315;Kaviar_AF=0.0001035;Kaviar_AC=16;Kaviar_AN=154602;ExAC_ALL=0.0001;ExAC_AFR=0;ExAC_AMR=9.027e-05;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0002;ExAC_OTH=0.0011;ExAC_SAS=0;CLNALLELEID=172547;CLNDN=not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.001;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=2.805;MutationAssessor_pred=M;FATHMM_score=-3.3;FATHMM_pred=D;PROVEAN_score=-6.29;PROVEAN_pred=D;VEST3_score=0.904;CADD_raw=6.031;CADD_phred=28.0;DANN_score=0.998;fathmm-MKL_coding_score=0.985;fathmm-MKL_coding_pred=D;MetaSVM_score=1.012;MetaSVM_pred=D;MetaLR_score=0.898;MetaLR_pred=D;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.49;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.028;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=0.997;SiPhy_29way_logOdds=15.571;GDI_full_10282015=.;dpsi_max_tissue=-0.2448;dpsi_zscore=-0.767;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0001;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0002;gnomAD_exome_ASJ=0.0015;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=5.386e-05;gnomAD_exome_OTH=0.0005;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0001;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0002;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=8 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . 1:28:0,10 . . . . . . . . . . . . . . . . . . . . 1 237711797 43763;rs2253273 A G 180.63 . #_unique_end_positions=,47;#_unique_start_positions=,37;AC=77;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5378;ALLELEID_clinvar_20171029_hg19=,52932;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9510;AN=77;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.1697|.|0.8303|.;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1631597|Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNDN_clinvar_20171029_hg19=,Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy|_ARVC;CLNHGVS_clinvar_20171029_hg19=,NC_000001.10:g.237711797A>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:4292;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001035.2:c.2973A>G;Coding_region_change_in_longest_transcript=,NM_001035.2:c.2973A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.8720;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9583;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,35;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,RYR2:6262;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:6262;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:6262;Genotype=,G/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:10484;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:10484;Homo_sapiens_refseq_GRCh37.p13_Genes=,RYR2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001035.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3765;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5879;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:180902;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:180902;NOV_dbsnp_common_v150_hg19_refseq=,NOV;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3765;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,237711797;RS_dbsnp_common_v150_hg19_refseq=,2253273;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,68;Read_coverage=,68;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001035.2;Reverse_read_coverage=,33;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9652;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.200749|.|0.799251|.;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05012800030515053f000104;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.612245;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.951327;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.878049;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.911765;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.977273;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.860465;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.860465;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.477778;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.97;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.622378;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.943182;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.544248;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.137;db_xref=,GeneID:6262|HGNC:HGNC:10484|MIM:180902;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001035.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ryanodine_receptor_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,RYR2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,RYR2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARVC2|ARVD2|RyR|RYR-2|VTSIP;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,ryanodine_receptor_2;transcript_id=,NM_001035.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon26:c.A2973G:p.S991S;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=0.8511;esp6500siv2_ea=0.9585;esp6500siv2_all=0.8511;esp6500siv2_ea=0.9585;1000g2015aug_all=0.830272;avsnp147=rs2253273;Kaviar_AF=0.908384;Kaviar_AC=140438;Kaviar_AN=154602;ExAC_ALL=0.9262;ExAC_AFR=0.5994;ExAC_AMR=0.9575;ExAC_EAS=0.8849;ExAC_FIN=0.9710;ExAC_NFE=0.9594;ExAC_OTH=0.9499;ExAC_SAS=0.9663;CLNALLELEID=52932;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0359;dpsi_zscore=0.229;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.9329;gnomAD_exome_AFR=0.5968;gnomAD_exome_AMR=0.9564;gnomAD_exome_ASJ=0.9549;gnomAD_exome_EAS=0.8865;gnomAD_exome_FIN=0.9730;gnomAD_exome_NFE=0.9589;gnomAD_exome_OTH=0.9437;gnomAD_exome_SAS=0.9670;gnomAD_genome_ALL=0.8540;gnomAD_genome_AFR=0.6002;gnomAD_genome_AMR=0.9414;gnomAD_genome_ASJ=0.9603;gnomAD_genome_EAS=0.8838;gnomAD_genome_FIN=0.9762;gnomAD_genome_NFE=0.9567;gnomAD_genome_OTH=0.9450;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1/1:65:0,65 1:72:0,41 1/1:62:0,62 1/1:47:0,47 1/1:42:0,42 1/1:73:0,73 1/1:49:0,49 1/1:68:0,68 1/1:71:0,71 1/1:90:0,90 1/1:81:0,81 1/1:50:0,50 1/1:65:0,65 1/1:73:0,73 1/1:108:0,108 1/1:67:0,67 1/1:65:0,65 1:70:0,34 1/1:49:0,49 1/1:54:0,54 1:98:0,36 1/1:87:0,87 1/1:88:0,88 1:85:0,38 1/1:84:0,84 1/1:63:0,63 1/1:83:0,83 1/1:98:0,98 1/1:68:0,68 1/1:82:0,82 1/1:73:0,73 1:48:0,23 1/1:72:0,72 1/1:64:0,64 1/1:79:0,79 1/1:88:0,88 1/1:82:0,82 1/1:57:0,57 1:63:0,33 1/1:81:0,81 1/1:82:0,82 1:71:0,35 1 237753998 . C T 200.00 . #_unique_end_positions=,42;#_unique_start_positions=,38;AC=1;AN=1;Amino_acid_change=,NP_001026.2:p.Ser1289Phe;Amino_acid_change_in_longest_transcript=,NP_001026.2:p.Ser1289Phe;BaseQRankSum=,-0.31;Coding_region_change=,NM_001035.2:c.3866C>T;Coding_region_change_in_longest_transcript=,NM_001035.2:c.3866C>T;Forward_read_coverage=,77;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:6262;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:6262;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:10484;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:10484;Homo_sapiens_refseq_GRCh37.p13_Genes=,RYR2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001035.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3765;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5879;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:180902;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:180902;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3765;QUAL=,200.0;Read_count=,64;Read_coverage=,112;Read_direction_test_probability=,0.9975245099149583;Read_position_test_probability=,0.815297960280704;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001035.2;Reverse_read_coverage=,35;SF=16;conservation_score=,0.991;db_xref=,GeneID:6262|HGNC:HGNC:10484|MIM:180902;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001035.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ryanodine_receptor_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,RYR2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,RYR2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARVC2|ARVD2|RyR|RYR-2|VTSIP;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,ryanodine_receptor_2;transcript_id=,NM_001035.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon31:c.C3866T:p.S1289F;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.003;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.956;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.982;MutationTaster_pred=D;MutationAssessor_score=0.55;MutationAssessor_pred=N;FATHMM_score=-4.1;FATHMM_pred=D;PROVEAN_score=-2.7;PROVEAN_pred=D;VEST3_score=0.727;CADD_raw=6.079;CADD_phred=28.2;DANN_score=0.998;fathmm-MKL_coding_score=0.971;fathmm-MKL_coding_pred=D;MetaSVM_score=0.974;MetaSVM_pred=D;MetaLR_score=0.866;MetaLR_pred=D;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=4.11;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.931;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=0.995;SiPhy_29way_logOdds=15.922;GDI_full_10282015=.;dpsi_max_tissue=-0.0273;dpsi_zscore=-0.149;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=10 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . 1:104:0,59 . . . . . . . . . . . . . . . . . . . . . . . . . 1 237755076 43782;rs56229512 A G 94.86 . #_unique_end_positions=,8;#_unique_start_positions=,8;AC=4;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0015;AF_ESP_clinvar_20171029_hg19=,0.0161;AF_EXAC_clinvar_20171029_hg19=,0.01825;AF_TGP_clinvar_20171029_hg19=,0.0072;ALLELEID_clinvar_20171029_hg19=,52951;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0086;AN=4;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001026.2:p.Ser1400Gly;Amino_acid_change_in_longest_transcript=,NP_001026.2:p.Ser1400Gly;BaseQRankSum=,0.22;CAF_dbsnp_common_v150_hg19_refseq=,0.9928|0.007188;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1631597|Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNDN_clinvar_20171029_hg19=,Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy|_ARVC;CLNHGVS_clinvar_20171029_hg19=,NC_000001.10:g.237755076A>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:4319;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001035.2:c.4198A>G;Coding_region_change_in_longest_transcript=,NM_001035.2:c.4198A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0199;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,21;GENEINFO_dbsnp_common_v150_hg19_refseq=,RYR2:6262;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:6262;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:6262;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:10484;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:10484;Homo_sapiens_refseq_GRCh37.p13_Genes=,RYR2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001035.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3765;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5879;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:180902;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:180902;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3765;QUAL=,57.46444048522457;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,237755076;RS_dbsnp_common_v150_hg19_refseq=,56229512;Read_count=,14;Read_coverage=,38;Read_direction_test_probability=,0.9946936160391249;Read_position_test_probability=,0.6430993487668863;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001035.2;Reverse_read_coverage=,17;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0082;SF=17,20,31,36;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.986228|0.0137725;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050028000a05040536000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.692;db_xref=,GeneID:6262|HGNC:HGNC:10484|MIM:180902;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001035.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ryanodine_receptor_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,RYR2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,RYR2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARVC2|ARVD2|RyR|RYR-2|VTSIP;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,ryanodine_receptor_2;transcript_id=,NM_001035.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon32:c.A4198G:p.S1400G;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=0.0161;esp6500siv2_ea=0.0218;esp6500siv2_all=0.0161;esp6500siv2_ea=0.0218;1000g2015aug_all=0.0071885;avsnp147=rs56229512;Kaviar_AF=0.0174319;Kaviar_AC=2695;Kaviar_AN=154602;ExAC_ALL=0.0182;ExAC_AFR=0.0041;ExAC_AMR=0.0095;ExAC_EAS=0.0002;ExAC_FIN=0.0237;ExAC_NFE=0.0242;ExAC_OTH=0.0145;ExAC_SAS=0.0155;CLNALLELEID=52951;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.116;SIFT_pred=T;Polyphen2_HDIV_score=0.004;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.006;Polyphen2_HVAR_pred=B;LRT_score=0.046;LRT_pred=N;MutationTaster_score=0.985;MutationTaster_pred=N;MutationAssessor_score=0.345;MutationAssessor_pred=N;FATHMM_score=-4.09;FATHMM_pred=D;PROVEAN_score=-1.63;PROVEAN_pred=N;VEST3_score=0.106;CADD_raw=1.769;CADD_phred=14.81;DANN_score=0.988;fathmm-MKL_coding_score=0.949;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.170;MetaSVM_pred=T;MetaLR_score=0.533;MetaLR_pred=D;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=3.16;phyloP7way_vertebrate=0.069;phyloP20way_mammalian=0.233;phastCons7way_vertebrate=0.993;phastCons20way_mammalian=0.863;SiPhy_29way_logOdds=9.989;GDI_full_10282015=.;dpsi_max_tissue=-0.4736;dpsi_zscore=-1.065;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0167;gnomAD_exome_AFR=0.0037;gnomAD_exome_AMR=0.0081;gnomAD_exome_ASJ=0.0218;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0.0206;gnomAD_exome_NFE=0.0234;gnomAD_exome_OTH=0.0174;gnomAD_exome_SAS=0.0133;gnomAD_genome_ALL=0.0176;gnomAD_genome_AFR=0.0038;gnomAD_genome_AMR=0.0155;gnomAD_genome_ASJ=0.0166;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0183;gnomAD_genome_NFE=0.0272;gnomAD_genome_OTH=0.0235;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . 1:30:0,10 . . 1:52:0,25 . . . . . . . . . . 1:24:0,12 . . . . 1:33:0,24 . . . . . 1 237774113 . G A 200.00 . #_unique_end_positions=,35;#_unique_start_positions=,30;AC=1;AN=1;Amino_acid_change=,NP_001026.2:p.Val1579Met;Amino_acid_change_in_longest_transcript=,NP_001026.2:p.Val1579Met;BaseQRankSum=,-0.99;Coding_region_change=,NM_001035.2:c.4735G>A;Coding_region_change_in_longest_transcript=,NM_001035.2:c.4735G>A;Forward_read_coverage=,64;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:6262;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:6262;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:10484;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:10484;Homo_sapiens_refseq_GRCh37.p13_Genes=,RYR2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001035.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3765;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5879;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:180902;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:180902;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3765;QUAL=,200.0;Read_count=,44;Read_coverage=,95;Read_direction_test_probability=,0.96819880273781;Read_position_test_probability=,0.7249763768522455;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001035.2;Reverse_read_coverage=,31;SF=33;conservation_score=,0.963;db_xref=,GeneID:6262|HGNC:HGNC:10484|MIM:180902;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001035.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ryanodine_receptor_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,RYR2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,RYR2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARVC2|ARVD2|RyR|RYR-2|VTSIP;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,ryanodine_receptor_2;transcript_id=,NM_001035.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon36:c.G4735A:p.V1579M;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs763389778;Kaviar_AF=3.88e-05;Kaviar_AC=6;Kaviar_AN=154602;ExAC_ALL=6.69e-05;ExAC_AFR=0.0003;ExAC_AMR=0.0001;ExAC_EAS=0.0002;ExAC_FIN=0;ExAC_NFE=0;ExAC_OTH=0;ExAC_SAS=0.0002;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.057;SIFT_pred=T;Polyphen2_HDIV_score=0.547;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.152;Polyphen2_HVAR_pred=B;LRT_score=0.018;LRT_pred=N;MutationTaster_score=0.624;MutationTaster_pred=N;MutationAssessor_score=1.265;MutationAssessor_pred=L;FATHMM_score=-4.2;FATHMM_pred=D;PROVEAN_score=-1.64;PROVEAN_pred=N;VEST3_score=0.379;CADD_raw=4.374;CADD_phred=24.1;DANN_score=0.998;fathmm-MKL_coding_score=0.854;fathmm-MKL_coding_pred=D;MetaSVM_score=0.523;MetaSVM_pred=D;MetaLR_score=0.757;MetaLR_pred=D;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=4.26;phyloP7way_vertebrate=0.069;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.987;phastCons20way_mammalian=0.580;SiPhy_29way_logOdds=10.691;GDI_full_10282015=.;dpsi_max_tissue=0.2606;dpsi_zscore=0.830;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=6.2e-05;gnomAD_exome_AFR=0.0004;gnomAD_exome_AMR=9.039e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=5.902e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=1.823e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=9.952e-05;gnomAD_genome_ALL=6.46e-05;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=7 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:89:0,41 . . . . . . . . 1 237778082 36746;rs41315858 G A 200.00 . #_unique_end_positions=,37;#_unique_start_positions=,42;AC=2;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0175;AF_EXAC_clinvar_20171029_hg19=,0.01540;AF_TGP_clinvar_20171029_hg19=,0.0098;ALLELEID_clinvar_20171029_hg19=,45407;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0159;AN=2;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001026.2:p.Gly1885Glu;Amino_acid_change_in_longest_transcript=,NP_001026.2:p.Gly1885Glu;BaseQRankSum=,0.27;CAF_dbsnp_common_v150_hg19_refseq=,0.9902|0.009784|.;CLNDISDB_clinvar_20171029_hg19=,MedGen:C0349788|Orphanet:ORPHA247|SNOMED_CT:253528005|SNOMED_CT:281170005|MedGen:C1631597|Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNDN_clinvar_20171029_hg19=,Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy|_ARVC;CLNHGVS_clinvar_20171029_hg19=,NC_000001.10:g.237778082G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:67497;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001035.2:c.5654G>A;Coding_region_change_in_longest_transcript=,NM_001035.2:c.5654G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0368;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,71;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,RYR2:6262;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:6262;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:6262;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:10484;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:10484;Homo_sapiens_refseq_GRCh37.p13_Genes=,RYR2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001035.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3765;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5879;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:180902;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:180902;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3765;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,237778082;RS_dbsnp_common_v150_hg19_refseq=,41315858;Read_count=,74;Read_coverage=,161;Read_direction_test_probability=,0.9471152641799536;Read_position_test_probability=,0.5240287520805786;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001035.2;Reverse_read_coverage=,90;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;SF=0,2;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.98743|0.0125361|3.43454e-005;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050068000a05050536100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.001;db_xref=,GeneID:6262|HGNC:HGNC:10484|MIM:180902;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001035.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ryanodine_receptor_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,RYR2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,RYR2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARVC2|ARVD2|RyR|RYR-2|VTSIP;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,ryanodine_receptor_2;transcript_id=,NM_001035.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon37:c.G5654A:p.G1885E;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=0.0175;esp6500siv2_ea=0.0234;esp6500siv2_all=0.0175;esp6500siv2_ea=0.0234;1000g2015aug_all=0.00978435;avsnp147=rs41315858;Kaviar_AF=0.0164163;Kaviar_AC=2538;Kaviar_AN=154602;ExAC_ALL=0.0154;ExAC_AFR=0.0049;ExAC_AMR=0.0068;ExAC_EAS=0;ExAC_FIN=0.0127;ExAC_NFE=0.0237;ExAC_OTH=0.0175;ExAC_SAS=0.0019;CLNALLELEID=45407;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.886;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.755;LRT_pred=N;MutationTaster_score=0.997;MutationTaster_pred=N;MutationAssessor_score=-0.35;MutationAssessor_pred=N;FATHMM_score=-0.54;FATHMM_pred=T;PROVEAN_score=0.55;PROVEAN_pred=N;VEST3_score=0.093;CADD_raw=-1.771;CADD_phred=0.002;DANN_score=0.496;fathmm-MKL_coding_score=0.037;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.943;MetaSVM_pred=T;MetaLR_score=0.025;MetaLR_pred=T;integrated_fitCons_score=0.500;integrated_confidence_value=0;GERP++_RS=-2.35;phyloP7way_vertebrate=-0.020;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.285;phastCons20way_mammalian=0.565;SiPhy_29way_logOdds=2.768;GDI_full_10282015=.;dpsi_max_tissue=0.1062;dpsi_zscore=0.502;hgmdCODING=HGMD::Catecholaminergic_polymorphic_ventricular_tachycardia#21315846;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM1110948#"Catecholaminergic_polymorphic_ventricular_tachycardia";gnomAD_exome_ALL=0.0156;gnomAD_exome_AFR=0.0042;gnomAD_exome_AMR=0.0089;gnomAD_exome_ASJ=0.0082;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0149;gnomAD_exome_NFE=0.0264;gnomAD_exome_OTH=0.0156;gnomAD_exome_SAS=0.0015;gnomAD_genome_ALL=0.0175;gnomAD_genome_AFR=0.0042;gnomAD_genome_AMR=0.0131;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0172;gnomAD_genome_NFE=0.0280;gnomAD_genome_OTH=0.0132;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:133:0,60 . 1:153:0,68 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 237778084 36747;rs3766871 G A 200.00 . #_unique_end_positions=,31;#_unique_start_positions=,32;AC=2;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1551;AF_ESP_clinvar_20171029_hg19=,0.0629;AF_EXAC_clinvar_20171029_hg19=,0.04385;AF_TGP_clinvar_20171029_hg19=,0.0763;ALLELEID_clinvar_20171029_hg19=,45408;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0303;AN=2;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001026.2:p.Gly1886Ser;Amino_acid_change_in_longest_transcript=,NP_001026.2:p.Gly1886Ser;BaseQRankSum=,-0.07;CAF_dbsnp_common_v150_hg19_refseq=,0.9237|0.07628;CLNDISDB_clinvar_20171029_hg19=,MedGen:C0878544|Orphanet:ORPHA167848|SNOMED_CT:85898001|MedGen:C1631597|Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNDN_clinvar_20171029_hg19=,Cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy|_ARVC;CLNHGVS_clinvar_20171029_hg19=,NC_000001.10:g.237778084G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,HGMD:CM088425|Illumina_Clinical_Services_Laboratory|Illumina:84891|UniProtKB_(protein):Q92736#VAR_022078;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001035.2:c.5656G>A;Coding_region_change_in_longest_transcript=,NM_001035.2:c.5656G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0635;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0268;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,41;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,RYR2:6262;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:6262;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:6262;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:10484;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:10484;Homo_sapiens_refseq_GRCh37.p13_Genes=,RYR2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001035.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3765;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5879;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:180902;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:180902;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3765;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,237778084;RS_dbsnp_common_v150_hg19_refseq=,3766871;Read_count=,47;Read_coverage=,122;Read_direction_test_probability=,0.5496124382283905;Read_position_test_probability=,0.6911221289099123;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001035.2;Reverse_read_coverage=,81;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0665;SF=31,39;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.923616|0.0763841;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050168000a05150537100101;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.0918367;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0353982;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.097561;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.105882;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.0795455;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0238095;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0872093;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.177778;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.04;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.227273;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.0402299;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.199115;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.019;db_xref=,GeneID:6262|HGNC:HGNC:10484|MIM:180902;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001035.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ryanodine_receptor_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,RYR2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,RYR2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARVC2|ARVD2|RyR|RYR-2|VTSIP;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,ryanodine_receptor_2;transcript_id=,NM_001035.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon37:c.G5656A:p.G1886S;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=0.0628;esp6500siv2_ea=0.0311;esp6500siv2_all=0.0628;esp6500siv2_ea=0.0311;1000g2015aug_all=0.076278;avsnp147=rs3766871;Kaviar_AF=0.0419917;Kaviar_AC=6492;Kaviar_AN=154602;ExAC_ALL=0.0438;ExAC_AFR=0.1417;ExAC_AMR=0.0175;ExAC_EAS=0.0791;ExAC_FIN=0.0226;ExAC_NFE=0.0307;ExAC_OTH=0.0353;ExAC_SAS=0.0491;CLNALLELEID=45408;CLNDN=Cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.335;SIFT_pred=T;Polyphen2_HDIV_score=0.002;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.007;Polyphen2_HVAR_pred=B;LRT_score=0.202;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=0.09;MutationAssessor_pred=N;FATHMM_score=-0.64;FATHMM_pred=T;PROVEAN_score=-0.92;PROVEAN_pred=N;VEST3_score=0.133;CADD_raw=0.814;CADD_phred=9.551;DANN_score=0.953;fathmm-MKL_coding_score=0.758;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.096;MetaSVM_pred=T;MetaLR_score=0.001;MetaLR_pred=T;integrated_fitCons_score=0.500;integrated_confidence_value=0;GERP++_RS=4.8;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.247;phastCons20way_mammalian=0.422;SiPhy_29way_logOdds=18.064;GDI_full_10282015=.;dpsi_max_tissue=0.0213;dpsi_zscore=0.144;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM088425#"Altered_channel_function";gnomAD_exome_ALL=0.0405;gnomAD_exome_AFR=0.1429;gnomAD_exome_AMR=0.0195;gnomAD_exome_ASJ=0.0200;gnomAD_exome_EAS=0.0806;gnomAD_exome_FIN=0.0248;gnomAD_exome_NFE=0.0308;gnomAD_exome_OTH=0.0344;gnomAD_exome_SAS=0.0433;gnomAD_genome_ALL=0.0618;gnomAD_genome_AFR=0.1408;gnomAD_genome_AMR=0.0263;gnomAD_genome_ASJ=0.0132;gnomAD_genome_EAS=0.0846;gnomAD_genome_FIN=0.0263;gnomAD_genome_NFE=0.0263;gnomAD_genome_OTH=0.0377;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:112:0,44 . . . . . . . 1:180:0,72 . . 1 237801770 43819;rs707189 T C 170.41 . #_unique_end_positions=,41;#_unique_start_positions=,33;AC=84;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.8359;ALLELEID_clinvar_20171029_hg19=,52988;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9870;AN=84;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;CAF_dbsnp_common_v150_hg19_refseq=,0.04513|0.9549;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1631597|Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNDN_clinvar_20171029_hg19=,Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy|_ARVC;CLNHGVS_clinvar_20171029_hg19=,NC_000001.10:g.237801770T>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:4299;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001035.2:c.6906T>C;Coding_region_change_in_longest_transcript=,NM_001035.2:c.6906T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,1.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,1.0000;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,27;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,RYR2:6262;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:6262;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:6262;Genotype=,C/C;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:10484;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:10484;Homo_sapiens_refseq_GRCh37.p13_Genes=,RYR2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001035.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3765;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5879;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:180902;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:180902;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3765;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,237801770;RS_dbsnp_common_v150_hg19_refseq=,707189;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,57;Read_coverage=,57;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001035.2;Reverse_read_coverage=,30;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,1.0000;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.0575285|0.942471;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05012800030515053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.887755;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,1;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,1;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,1;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.75;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.926573;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.876106;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:6262|HGNC:HGNC:10484|MIM:180902;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001035.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ryanodine_receptor_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,RYR2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,RYR2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARVC2|ARVD2|RyR|RYR-2|VTSIP;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,ryanodine_receptor_2;transcript_id=,NM_001035.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon45:c.T6906C:p.L2302L;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=0.9592;esp6500siv2_ea=0.9994;esp6500siv2_all=0.9592;esp6500siv2_ea=0.9994;1000g2015aug_all=0.954872;avsnp147=rs707189;Kaviar_AF=0.937362;Kaviar_AC=144918;Kaviar_AN=154602;ExAC_ALL=0.9884;ExAC_AFR=0.8667;ExAC_AMR=0.9948;ExAC_EAS=1;ExAC_FIN=0.9997;ExAC_NFE=0.9997;ExAC_OTH=0.9911;ExAC_SAS=0.9998;CLNALLELEID=52988;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1771;dpsi_zscore=0.677;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.9906;gnomAD_exome_AFR=0.8676;gnomAD_exome_AMR=0.9936;gnomAD_exome_ASJ=1;gnomAD_exome_EAS=1;gnomAD_exome_FIN=0.9998;gnomAD_exome_NFE=0.9998;gnomAD_exome_OTH=0.9949;gnomAD_exome_SAS=0.9997;gnomAD_genome_ALL=0.9641;gnomAD_genome_AFR=0.8753;gnomAD_genome_AMR=0.9881;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=1;gnomAD_genome_FIN=0.9994;gnomAD_genome_NFE=0.9999;gnomAD_genome_OTH=0.9898;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1/1:50:0,50 1/1:52:0,52 1/1:47:0,47 1/1:44:0,44 1/1:44:0,44 1/1:42:0,42 1/1:31:0,31 1/1:41:0,41 1/1:59:0,59 1/1:37:0,37 1/1:37:0,37 1/1:39:0,39 1/1:54:0,54 1/1:39:0,39 1/1:66:0,66 1/1:44:0,44 1/1:62:0,62 1/1:45:0,45 1/1:34:0,34 1/1:48:0,48 1/1:82:0,82 1/1:60:0,60 1/1:48:0,48 1/1:56:0,56 1/1:55:0,55 1/1:47:0,47 1/1:42:0,42 1/1:57:0,57 1/1:35:0,35 1/1:45:0,45 1/1:56:0,56 1/1:44:0,44 1/1:48:0,48 1/1:30:0,30 1/1:56:0,56 1/1:61:0,61 1/1:37:0,37 1/1:51:0,51 1/1:35:0,35 1/1:41:0,41 1/1:54:0,54 1/1:44:0,44 1 237813369 . A G 136.32 . #_unique_end_positions=,22;#_unique_start_positions=,16;AC=1;AN=1;Amino_acid_change=,NP_001026.2:p.Ile2569Val;Amino_acid_change_in_longest_transcript=,NP_001026.2:p.Ile2569Val;BaseQRankSum=,0.0;Coding_region_change=,NM_001035.2:c.7705A>G;Coding_region_change_in_longest_transcript=,NM_001035.2:c.7705A>G;Forward_read_coverage=,51;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:6262;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:6262;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:10484;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:10484;Homo_sapiens_refseq_GRCh37.p13_Genes=,RYR2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001035.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3765;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5879;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:180902;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:180902;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3765;QUAL=,136.32370475457083;Read_count=,25;Read_coverage=,71;Read_direction_test_probability=,0.915189839716602;Read_position_test_probability=,0.7968315597078918;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001035.2;Reverse_read_coverage=,20;SF=11;conservation_score=,1.0;db_xref=,GeneID:6262|HGNC:HGNC:10484|MIM:180902;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001035.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ryanodine_receptor_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,RYR2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,RYR2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARVC2|ARVD2|RyR|RYR-2|VTSIP;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,ryanodine_receptor_2;transcript_id=,NM_001035.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon50:c.A7705G:p.I2569V;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.834;SIFT_pred=T;Polyphen2_HDIV_score=0.99;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.764;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=0.615;MutationAssessor_pred=N;FATHMM_score=-3.59;FATHMM_pred=D;PROVEAN_score=-0.86;PROVEAN_pred=N;VEST3_score=0.482;CADD_raw=3.518;CADD_phred=23.1;DANN_score=0.972;fathmm-MKL_coding_score=0.989;fathmm-MKL_coding_pred=D;MetaSVM_score=0.403;MetaSVM_pred=D;MetaLR_score=0.752;MetaLR_pred=D;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.58;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.088;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=16.042;GDI_full_10282015=.;dpsi_max_tissue=0.0935;dpsi_zscore=0.463;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=7 GT:DP:CLCAD2 . . . . . . . . . . . 1:66:0,24 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 237814783 43827;rs684923 C T 70.27 . #_unique_end_positions=,8;#_unique_start_positions=,7;AC=31;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4864;AF_ESP_clinvar_20171029_hg19=,0.4507;ALLELEID_clinvar_20171029_hg19=,52996;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5029;AN=31;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.4451|0.5549;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1631597|Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNDN_clinvar_20171029_hg19=,Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy|_ARVC;CLNHGVS_clinvar_20171029_hg19=,NC_000001.10:g.237814783C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:4313;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001035.2:c.7806C>T;Coding_region_change_in_longest_transcript=,NM_001035.2:c.7806C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7956;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4324;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,12;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,RYR2:6262;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:6262;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:6262;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:10484;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:10484;Homo_sapiens_refseq_GRCh37.p13_Genes=,RYR2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001035.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3765;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5879;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:180902;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:180902;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3765;QUAL=,73.72370325790786;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,237814783;RS_dbsnp_common_v150_hg19_refseq=,684923;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,10;Read_coverage=,21;Read_direction_test_probability=,0.988677835405115;Read_position_test_probability=,0.7379307646895573;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001035.2;Reverse_read_coverage=,9;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5624;SF=1,2,3,4,5,6,7,8,9,10,12,13,15,17,18,20,27,28,29,30,31,32,34,35,36,39;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.516074|0.483926;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05012800030517053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.561224;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.380531;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.841463;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.788235;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.534091;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.802326;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.825581;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.432584;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.48;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.51049;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.426136;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.544248;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.996;db_xref=,GeneID:6262|HGNC:HGNC:10484|MIM:180902;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001035.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ryanodine_receptor_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,RYR2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,RYR2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARVC2|ARVD2|RyR|RYR-2|VTSIP;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,ryanodine_receptor_2;transcript_id=,NM_001035.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon51:c.C7806T:p.H2602H;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=0.4507;esp6500siv2_ea=0.4361;esp6500siv2_all=0.4507;esp6500siv2_ea=0.4361;1000g2015aug_all=0.554912;avsnp147=rs684923;Kaviar_AF=0.427834;Kaviar_AC=66144;Kaviar_AN=154602;ExAC_ALL=0.5198;ExAC_AFR=0.5164;ExAC_AMR=0.5646;ExAC_EAS=0.7888;ExAC_FIN=0.5098;ExAC_NFE=0.4739;ExAC_OTH=0.4895;ExAC_SAS=0.5243;CLNALLELEID=52996;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.2246;dpsi_zscore=-0.733;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.4755;gnomAD_exome_AFR=0.4743;gnomAD_exome_AMR=0.5052;gnomAD_exome_ASJ=0.3020;gnomAD_exome_EAS=0.7908;gnomAD_exome_FIN=0.4899;gnomAD_exome_NFE=0.4232;gnomAD_exome_OTH=0.4459;gnomAD_exome_SAS=0.4991;gnomAD_genome_ALL=0.4881;gnomAD_genome_AFR=0.5021;gnomAD_genome_AMR=0.4940;gnomAD_genome_ASJ=0.2947;gnomAD_genome_EAS=0.8125;gnomAD_genome_FIN=0.4991;gnomAD_genome_NFE=0.4477;gnomAD_genome_OTH=0.4603;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . 1:19:0,9 1/1:21:0,21 1:21:0,9 1:23:0,11 1:24:0,12 1:13:0,6 1:19:0,7 1/1:22:0,22 1/1:11:0,11 1:24:0,7 . 1:19:0,9 1/1:28:0,28 . 1:26:0,9 . 1:15:0,9 1:27:0,10 . 1:26:0,9 . . . . . . 1:32:0,15 1:27:0,10 1:27:0,13 1:27:0,10 1/1:13:0,13 1:15:0,6 . 1:21:0,8 1:20:0,12 1:20:0,9 . . 1:20:0,8 . . 1 237831251 . G A 59.05 . #_unique_end_positions=,10;#_unique_start_positions=,7;AC=1;AN=1;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.64;Coding_region_change=,NM_001035.2:c.8583G>A;Coding_region_change_in_longest_transcript=,NM_001035.2:c.8583G>A;Forward_read_coverage=,13;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:6262;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:6262;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:10484;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:10484;Homo_sapiens_refseq_GRCh37.p13_Genes=,RYR2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001035.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3765;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5879;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:180902;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:180902;Non-synonymous=,No;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3765;QUAL=,59.04511634568638;Read_count=,10;Read_coverage=,33;Read_direction_test_probability=,0.9492341040809467;Read_position_test_probability=,0.7656384093463253;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001035.2;Reverse_read_coverage=,20;SF=28;conservation_score=,0.998;db_xref=,GeneID:6262|HGNC:HGNC:10484|MIM:180902;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001035.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ryanodine_receptor_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,RYR2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,RYR2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARVC2|ARVD2|RyR|RYR-2|VTSIP;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,ryanodine_receptor_2;transcript_id=,NM_001035.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon58:c.G8583A:p.E2861E;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.3652;dpsi_zscore=0.979;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=5.649e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=3.739e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:29:0,10 . . . . . . . . . . . . . 1 237841390 36750;rs34967813 A G 72.07 . #_unique_end_positions=,15;#_unique_start_positions=,14;AC=20;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0113;AF_ESP_clinvar_20171029_hg19=,0.2249;AF_EXAC_clinvar_20171029_hg19=,0.25333;AF_TGP_clinvar_20171029_hg19=,0.0992;ALLELEID_clinvar_20171029_hg19=,45411;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1988;AN=20;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001026.2:p.Gln2958Arg;Amino_acid_change_in_longest_transcript=,NP_001026.2:p.Gln2958Arg;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.9008|0.09924;CLNDISDB_clinvar_20171029_hg19=,MedGen:C0878544|Orphanet:ORPHA167848|SNOMED_CT:85898001|MedGen:C1631597|Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNDN_clinvar_20171029_hg19=,Cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy|_ARVC;CLNHGVS_clinvar_20171029_hg19=,NC_000001.10:g.237841390A>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,HGMD:CM1110947|Illumina_Clinical_Services_Laboratory|Illumina:4316|UniProtKB_(protein):Q92736#VAR_011590;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001035.2:c.8873A>G;Coding_region_change_in_longest_transcript=,NM_001035.2:c.8873A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2942;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,7;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,RYR2:6262;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:6262;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:6262;Genotype=,G/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:10484;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:10484;Homo_sapiens_refseq_GRCh37.p13_Genes=,RYR2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001035.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3765;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5879;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:180902;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:180902;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3765;QUAL=,76.92286505758418;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,237841390;RS_dbsnp_common_v150_hg19_refseq=,34967813;Read_count=,19;Read_coverage=,19;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001035.2;Reverse_read_coverage=,12;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0491;SF=0,8,10,14,19,20,21,23,25,28,31,34,35,37,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.838645|0.161355;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050168000a05150536100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:6262|HGNC:HGNC:10484|MIM:180902;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001035.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ryanodine_receptor_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,RYR2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,RYR2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARVC2|ARVD2|RyR|RYR-2|VTSIP;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,ryanodine_receptor_2;transcript_id=,NM_001035.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon61:c.A8873G:p.Q2958R;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=0.2249;esp6500siv2_ea=0.3042;esp6500siv2_all=0.2249;esp6500siv2_ea=0.3042;1000g2015aug_all=0.0992412;avsnp147=rs34967813;Kaviar_AF=0.216757;Kaviar_AC=33511;Kaviar_AN=154602;ExAC_ALL=0.2533;ExAC_AFR=0.0615;ExAC_AMR=0.2369;ExAC_EAS=0.0013;ExAC_FIN=0.2772;ExAC_NFE=0.3459;ExAC_OTH=0.2570;ExAC_SAS=0.0920;CLNALLELEID=45411;CLNDN=Cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.473;SIFT_pred=T;Polyphen2_HDIV_score=0.287;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.032;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.004;MutationTaster_pred=P;MutationAssessor_score=1.16;MutationAssessor_pred=L;FATHMM_score=-0.29;FATHMM_pred=T;PROVEAN_score=-3.33;PROVEAN_pred=D;VEST3_score=0.538;CADD_raw=2.365;CADD_phred=18.59;DANN_score=0.998;fathmm-MKL_coding_score=0.864;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.093;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.534;integrated_confidence_value=0;GERP++_RS=5.67;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.140;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=0.988;SiPhy_29way_logOdds=10.287;GDI_full_10282015=.;dpsi_max_tissue=6.9548;dpsi_zscore=2.836;hgmdCODING=HGMD::Catecholaminergic_polymorphic_ventricular_tachycardia#21315846;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM1110947#"Catecholaminergic_polymorphic_ventricular_tachycardia";gnomAD_exome_ALL=0.2143;gnomAD_exome_AFR=0.0480;gnomAD_exome_AMR=0.1988;gnomAD_exome_ASJ=0.2211;gnomAD_exome_EAS=0.0008;gnomAD_exome_FIN=0.2360;gnomAD_exome_NFE=0.3066;gnomAD_exome_OTH=0.24;gnomAD_exome_SAS=0.0776;gnomAD_genome_ALL=0.2111;gnomAD_genome_AFR=0.0510;gnomAD_genome_AMR=0.1827;gnomAD_genome_ASJ=0.2285;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.2433;gnomAD_genome_NFE=0.3170;gnomAD_genome_OTH=0.2715;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1/1:16:0,16 . . . . . . . 1/1:15:0,15 . 1/1:24:0,24 . . . 1:22:0,11 . . . . 1:14:0,6 1:23:0,12 1:23:0,12 . 1:15:0,5 . 1:16:0,6 . . 1:27:0,13 . . 1:18:0,10 . . 1:15:0,7 1/1:13:0,13 . 1/1:11:0,11 . . . 1:24:0,14 1 237863718 43836;rs2797436 T G 158.91 . #_unique_end_positions=,37;#_unique_start_positions=,33;AC=84;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.8880;ALLELEID_clinvar_20171029_hg19=,53005;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9914;AN=84;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;CAF_dbsnp_common_v150_hg19_refseq=,0.03075|.|0.9692;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1631597|Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNDN_clinvar_20171029_hg19=,Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy|_ARVC;CLNHGVS_clinvar_20171029_hg19=,NC_000001.10:g.237863718T>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:4322;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001035.2:c.9318T>G;Coding_region_change_in_longest_transcript=,NM_001035.2:c.9318T>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,1.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,1.0000;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,33;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,RYR2:6262;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:6262;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:6262;Genotype=,G/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:10484;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:10484;Homo_sapiens_refseq_GRCh37.p13_Genes=,RYR2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001035.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3765;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5879;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:180902;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:180902;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3765;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,237863718;RS_dbsnp_common_v150_hg19_refseq=,2797436;Read_count=,60;Read_coverage=,60;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001035.2;Reverse_read_coverage=,27;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,1.0000;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.0453702|.|0.95463;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05012800030515053f000101;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.908163;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,1;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,1;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.988889;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.932584;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.877622;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.883333;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.035;db_xref=,GeneID:6262|HGNC:HGNC:10484|MIM:180902;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001035.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ryanodine_receptor_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,RYR2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,RYR2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARVC2|ARVD2|RyR|RYR-2|VTSIP;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,ryanodine_receptor_2;transcript_id=,NM_001035.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon65:c.T9318G:p.S3106S;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=0.9718;esp6500siv2_ea=0.9995;esp6500siv2_all=0.9718;esp6500siv2_ea=0.9995;1000g2015aug_all=0.969249;avsnp147=rs2797436;Kaviar_AF=0.971902;Kaviar_AC=150258;Kaviar_AN=154602;ExAC_ALL=0.9917;ExAC_AFR=0.9080;ExAC_AMR=0.9953;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9994;ExAC_OTH=0.9954;ExAC_SAS=0.9992;CLNALLELEID=53005;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.2424;dpsi_zscore=0.800;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.9928;gnomAD_exome_AFR=0.9020;gnomAD_exome_AMR=0.9953;gnomAD_exome_ASJ=1;gnomAD_exome_EAS=0.9997;gnomAD_exome_FIN=1;gnomAD_exome_NFE=0.9994;gnomAD_exome_OTH=0.9937;gnomAD_exome_SAS=0.9993;gnomAD_genome_ALL=0.9715;gnomAD_genome_AFR=0.9005;gnomAD_genome_AMR=0.9964;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=1;gnomAD_genome_FIN=1;gnomAD_genome_NFE=0.9993;gnomAD_genome_OTH=0.9969;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1/1:54:0,54 1/1:32:0,32 1/1:36:0,36 1/1:31:0,31 1/1:31:0,31 1/1:46:0,46 1/1:39:0,39 1/1:32:0,32 1/1:40:0,40 1/1:42:0,42 1/1:53:0,53 1/1:49:0,49 1/1:38:0,38 1/1:36:0,36 1/1:65:0,65 1/1:35:0,35 1/1:42:0,42 1/1:51:0,51 1/1:42:0,42 1/1:29:0,29 1/1:55:0,55 1/1:54:0,54 1/1:50:0,50 1/1:50:0,50 1/1:39:0,39 1/1:29:0,29 1/1:40:0,40 1/1:51:0,51 1/1:45:0,45 1/1:49:0,49 1/1:54:0,54 1/1:31:0,31 1/1:38:0,38 1/1:29:0,29 1/1:69:0,69 1/1:40:0,40 1/1:46:0,46 1/1:41:0,41 1/1:31:0,31 1/1:25:0,25 1/1:45:0,45 1/1:51:0,51 1 237881770 43699;rs2797441 C T 71.20 . #_unique_end_positions=,15;#_unique_start_positions=,15;AC=62;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.8555;ALLELEID_clinvar_20171029_hg19=,52868;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9899;AN=62;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;CAF_dbsnp_common_v150_hg19_refseq=,0.03954|0.9605;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1631597|Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNDN_clinvar_20171029_hg19=,Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy|_ARVC;CLNHGVS_clinvar_20171029_hg19=,NC_000001.10:g.237881770C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:4325;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001035.2:c.10503C>T;Coding_region_change_in_longest_transcript=,NM_001035.2:c.10503C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,1.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,1.0000;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,12;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,RYR2:6262;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:6262;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:6262;Genotype=,T/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:10484;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:10484;Homo_sapiens_refseq_GRCh37.p13_Genes=,RYR2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001035.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3765;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5879;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:180902;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:180902;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3765;QUAL=,77.2923469866217;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,237881770;RS_dbsnp_common_v150_hg19_refseq=,2797441;Read_count=,19;Read_coverage=,19;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001035.2;Reverse_read_coverage=,7;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,1.0000;SF=0,1,2,7,8,9,10,14,15,16,17,18,19,20,21,22,23,24,25,26,27,29,30,32,33,34,35,36,37,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.0614439|0.938556;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05012800030515053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.877551;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,1;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,1;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,1;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.911111;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.891608;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.80531;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.895;db_xref=,GeneID:6262|HGNC:HGNC:10484|MIM:180902;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001035.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ryanodine_receptor_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,RYR2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,RYR2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARVC2|ARVD2|RyR|RYR-2|VTSIP;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,ryanodine_receptor_2;transcript_id=,NM_001035.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon73:c.C10503T:p.T3501T;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=0.9616;esp6500siv2_ea=0.9995;esp6500siv2_all=0.9616;esp6500siv2_ea=0.9995;1000g2015aug_all=0.960463;avsnp147=rs2797441;Kaviar_AF=0.966372;Kaviar_AC=149403;Kaviar_AN=154602;ExAC_ALL=0.9886;ExAC_AFR=0.8706;ExAC_AMR=0.9952;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9995;ExAC_OTH=0.9933;ExAC_SAS=0.9992;CLNALLELEID=52868;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1498;dpsi_zscore=0.616;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.9906;gnomAD_exome_AFR=0.8686;gnomAD_exome_AMR=0.9949;gnomAD_exome_ASJ=0.9999;gnomAD_exome_EAS=1;gnomAD_exome_FIN=1;gnomAD_exome_NFE=0.9995;gnomAD_exome_OTH=0.9917;gnomAD_exome_SAS=0.9993;gnomAD_genome_ALL=0.9623;gnomAD_genome_AFR=0.8678;gnomAD_genome_AMR=0.9964;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=1;gnomAD_genome_FIN=1;gnomAD_genome_NFE=0.9995;gnomAD_genome_OTH=0.9949;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1/1:16:0,16 1/1:10:0,10 1/1:12:0,12 . . . . 1/1:14:0,14 1/1:12:0,12 1/1:19:0,19 1/1:16:0,16 . . . 1/1:13:0,13 1/1:11:0,11 1/1:15:0,15 1/1:25:0,25 1/1:11:0,11 1/1:10:0,10 1/1:18:0,18 1/1:13:0,13 1/1:14:0,14 1/1:15:0,15 1/1:15:0,15 1/1:11:0,11 1/1:14:0,14 1/1:18:0,18 . 1/1:11:0,11 1/1:13:0,13 . 1/1:17:0,17 1/1:11:0,11 1/1:21:0,21 1/1:10:0,10 1/1:14:0,14 1/1:10:0,10 . . 1/1:15:0,15 1/1:10:0,10 1 237890437 43702;rs2685301 C T 95.70 . #_unique_end_positions=,23;#_unique_start_positions=,21;AC=84;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.8548;ALLELEID_clinvar_20171029_hg19=,52871;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9899;AN=84;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;CAF_dbsnp_common_v150_hg19_refseq=,0.03974|0.9603;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1631597|Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNDN_clinvar_20171029_hg19=,Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy|_ARVC;CLNHGVS_clinvar_20171029_hg19=,NC_000001.10:g.237890437C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:4328;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001035.2:c.10776C>T;Coding_region_change_in_longest_transcript=,NM_001035.2:c.10776C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,1.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,1.0000;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,21;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,RYR2:6262;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:6262;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:6262;Genotype=,T/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:10484;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:10484;Homo_sapiens_refseq_GRCh37.p13_Genes=,RYR2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001035.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3765;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5879;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:180902;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:180902;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3765;QUAL=,107.39253647748401;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,237890437;RS_dbsnp_common_v150_hg19_refseq=,2685301;Read_count=,29;Read_coverage=,29;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001035.2;Reverse_read_coverage=,8;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,1.0000;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.0615469|0.938453;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05012800030515053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.877551;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,1;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,1;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,1;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.905556;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.891608;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.809735;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.012;db_xref=,GeneID:6262|HGNC:HGNC:10484|MIM:180902;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001035.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ryanodine_receptor_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,RYR2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,RYR2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARVC2|ARVD2|RyR|RYR-2|VTSIP;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,ryanodine_receptor_2;transcript_id=,NM_001035.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon76:c.C10776T:p.S3592S;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=0.9608;esp6500siv2_ea=0.9995;esp6500siv2_all=0.9608;esp6500siv2_ea=0.9995;1000g2015aug_all=0.960264;avsnp147=rs2685301;Kaviar_AF=0.969903;Kaviar_AC=149949;Kaviar_AN=154602;ExAC_ALL=0.9885;ExAC_AFR=0.8705;ExAC_AMR=0.9949;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9994;ExAC_OTH=0.9933;ExAC_SAS=0.9992;CLNALLELEID=52871;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-2.5844;dpsi_zscore=-2.062;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.9907;gnomAD_exome_AFR=0.8689;gnomAD_exome_AMR=0.9948;gnomAD_exome_ASJ=0.9999;gnomAD_exome_EAS=1;gnomAD_exome_FIN=1;gnomAD_exome_NFE=0.9995;gnomAD_exome_OTH=0.9920;gnomAD_exome_SAS=0.9993;gnomAD_genome_ALL=0.9625;gnomAD_genome_AFR=0.8687;gnomAD_genome_AMR=0.9964;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=1;gnomAD_genome_FIN=1;gnomAD_genome_NFE=0.9995;gnomAD_genome_OTH=0.9949;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1/1:26:0,26 1/1:26:0,26 1/1:32:0,32 1/1:13:0,13 1/1:13:0,13 1/1:15:0,15 1/1:22:0,22 1/1:23:0,23 1/1:15:0,15 1/1:18:0,18 1/1:22:0,22 1/1:16:0,16 1/1:26:0,26 1/1:22:0,22 1/1:27:0,27 1/1:20:0,20 1/1:29:0,29 1/1:28:0,28 1/1:19:0,19 1/1:22:0,22 1/1:27:0,27 1/1:22:0,22 1/1:17:0,17 1/1:24:0,24 1/1:27:0,27 1/1:21:0,21 1/1:22:0,22 1/1:27:0,27 1/1:29:0,29 1/1:19:0,19 1/1:24:0,24 1/1:10:0,10 1/1:13:0,13 1/1:18:0,18 1/1:22:0,22 1/1:18:0,18 1/1:20:0,20 1/1:30:0,30 1/1:26:0,26 1/1:24:0,24 1/1:23:0,23 1/1:33:0,33 1 237947000 43717;rs56226196 C T 85.77 . #_unique_end_positions=,17;#_unique_start_positions=,15;AC=5;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0083;AF_ESP_clinvar_20171029_hg19=,0.0149;AF_EXAC_clinvar_20171029_hg19=,0.01393;AF_TGP_clinvar_20171029_hg19=,0.0124;ALLELEID_clinvar_20171029_hg19=,52886;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0173;AN=5;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.9876|0.01238;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1631597|Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNDN_clinvar_20171029_hg19=,Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy|_ARVC;CLNHGVS_clinvar_20171029_hg19=,NC_000001.10:g.237947000C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:4344;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001035.2:c.11988C>T;Coding_region_change_in_longest_transcript=,NM_001035.2:c.11988C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0129;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,20;GENEINFO_dbsnp_common_v150_hg19_refseq=,RYR2:6262;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:6262;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:6262;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:10484;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:10484;Homo_sapiens_refseq_GRCh37.p13_Genes=,RYR2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001035.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3765;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5879;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:180902;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:180902;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3765;QUAL=,33.273945706120216;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,237947000;RS_dbsnp_common_v150_hg19_refseq=,56226196;Read_count=,18;Read_coverage=,25;Read_direction_test_probability=,0.8430479343483015;Read_position_test_probability=,0.8874214226838725;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001035.2;Reverse_read_coverage=,5;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0266;SF=18,29,36,37;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.983652|0.0163484;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128000305140436000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:6262|HGNC:HGNC:10484|MIM:180902;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001035.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ryanodine_receptor_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,RYR2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,RYR2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARVC2|ARVD2|RyR|RYR-2|VTSIP;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,ryanodine_receptor_2;transcript_id=,NM_001035.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon90:c.C11988T:p.G3996G;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=0.0149;esp6500siv2_ea=0.0173;esp6500siv2_all=0.0149;esp6500siv2_ea=0.0173;1000g2015aug_all=0.0123802;avsnp147=rs56226196;Kaviar_AF=0.0119403;Kaviar_AC=1846;Kaviar_AN=154602;ExAC_ALL=0.0139;ExAC_AFR=0.0100;ExAC_AMR=0.0095;ExAC_EAS=0.0001;ExAC_FIN=0.0045;ExAC_NFE=0.0170;ExAC_OTH=0.0122;ExAC_SAS=0.0187;CLNALLELEID=52886;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0105;dpsi_zscore=-0.041;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0117;gnomAD_exome_AFR=0.0089;gnomAD_exome_AMR=0.0092;gnomAD_exome_ASJ=0.0043;gnomAD_exome_EAS=5.875e-05;gnomAD_exome_FIN=0.0030;gnomAD_exome_NFE=0.0154;gnomAD_exome_OTH=0.0141;gnomAD_exome_SAS=0.0169;gnomAD_genome_ALL=0.0102;gnomAD_genome_AFR=0.0093;gnomAD_genome_AMR=0.0191;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0040;gnomAD_genome_NFE=0.0130;gnomAD_genome_OTH=0.0092;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . 1:25:0,18 . . . . . . . . . . 1:37:0,9 . . . . . . 1:46:0,24 1/1:19:0,19 . . . . 1 237955496 . A G 200.00 . #_unique_end_positions=,25;#_unique_start_positions=,19;AC=1;AN=1;Amino_acid_change=,NP_001026.2:p.His4552Arg;Amino_acid_change_in_longest_transcript=,NP_001026.2:p.His4552Arg;BaseQRankSum=,0.23;Coding_region_change=,NM_001035.2:c.13655A>G;Coding_region_change_in_longest_transcript=,NM_001035.2:c.13655A>G;Forward_read_coverage=,31;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:6262;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:6262;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:10484;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:10484;Homo_sapiens_refseq_GRCh37.p13_Genes=,RYR2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001035.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene3765;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna5879;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:180902;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:180902;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene3765;QUAL=,200.0;Read_count=,36;Read_coverage=,67;Read_direction_test_probability=,0.9999910838519147;Read_position_test_probability=,0.9560967039892682;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001035.2;Reverse_read_coverage=,36;SF=40;conservation_score=,0.0;db_xref=,GeneID:6262|HGNC:HGNC:10484|MIM:180902;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001035.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ryanodine_receptor_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,RYR2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,RYR2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARVC2|ARVD2|RyR|RYR-2|VTSIP;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,ryanodine_receptor_2;transcript_id=,NM_001035.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon94:c.A13655G:p.H4552R;cytoBand=1q43;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs768299786;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=8.996e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.61e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.255;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.197;LRT_pred=U;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=-3.15;FATHMM_pred=D;PROVEAN_score=-1.62;PROVEAN_pred=N;VEST3_score=0.093;CADD_raw=-1.326;CADD_phred=0.004;DANN_score=0.339;fathmm-MKL_coding_score=0.157;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.628;MetaSVM_pred=T;MetaLR_score=0.439;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=-7.66;phyloP7way_vertebrate=0.063;phyloP20way_mammalian=-0.727;phastCons7way_vertebrate=0.089;phastCons20way_mammalian=0.001;SiPhy_29way_logOdds=6.517;GDI_full_10282015=.;dpsi_max_tissue=0.5519;dpsi_zscore=1.184;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM1413713#"Sudden_unexplained_death";gnomAD_exome_ALL=1.629e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=8.971e-05;gnomAD_exome_NFE=1.797e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:61:0,32 . 2 39213443 40732 T G 65.06 . #_unique_end_positions=,17;#_unique_start_positions=,14;AC=1;ALLELEID_clinvar_20171029_hg19=,49202;AN=1;Amino_acid_change=,NP_005624.2:p.His1175Pro;Amino_acid_change_in_longest_transcript=,NP_005624.2:p.His1175Pro;BaseQRankSum=,-0.35;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.39213443T>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_single_submitter;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;Coding_region_change=,NM_005633.3:c.3524A>C;Coding_region_change_in_longest_transcript=,NM_005633.3:c.3524A>C;Exact_match=,clinvar_20171029_hg19;Forward_read_coverage=,21;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:6654;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:6654;Genotype=,G/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:11187;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:11187;Homo_sapiens_refseq_GRCh37.p13_Genes=,SOS1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_005633.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene4380;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna6775;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:182530;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:182530;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene4380;QUAL=,65.06119146653307;Read_count=,21;Read_coverage=,66;Read_direction_test_probability=,0.9671585298085024;Read_position_test_probability=,0.9820572436838324;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_005633.3;Reverse_read_coverage=,45;SF=30;conservation_score=,0.986;db_xref=,GeneID:6654|HGNC:HGNC:11187|MIM:182530;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:01681;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_005633.3|HPRD:01681;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SOS_Ras/Rac_guanine_nucleotide_exchange_factor_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SOS1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SOS1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GF1|GGF1|GINGF|HGF|NS4;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SOS_Ras/Rac_guanine_nucleotide_exchange_factor_1;transcript_id=,NM_005633.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SOS1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SOS1:NM_005633:exon23:c.A3524C:p.H1175P;cytoBand=2p22.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs730881035;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=49202;CLNDN=not_specified|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.108;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.006;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=0.755;MutationAssessor_pred=N;FATHMM_score=-0.91;FATHMM_pred=T;PROVEAN_score=-0.02;PROVEAN_pred=N;VEST3_score=0.428;CADD_raw=1.571;CADD_phred=13.69;DANN_score=0.849;fathmm-MKL_coding_score=0.936;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.776;MetaSVM_pred=T;MetaLR_score=0.268;MetaLR_pred=T;integrated_fitCons_score=0.706;integrated_confidence_value=0;GERP++_RS=4.32;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=1.061;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=0.998;SiPhy_29way_logOdds=12.806;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=3.234e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.665e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:59:0,17 . . . . . . . . . . . 2 47403674 rs377288714 G T 200.00 . #_unique_end_positions=,47;#_unique_start_positions=,45;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0053;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001292553.1:p.Arg3Ser;Amino_acid_change_in_longest_transcript=,NP_001292553.1:p.Arg3Ser;BaseQRankSum=,-0.22;CAF_dbsnp_common_v150_hg19_refseq=,0.9986|0.001398;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001305624.1:c.7C>A|_NM_001305625.1:c.-106+314C>A|_NM_001305626.1:c.-5876C>A|_NM_001743.5:c.-92C>A;Coding_region_change_in_longest_transcript=,NM_001305624.1:c.7C>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,68;GENEINFO_dbsnp_common_v150_hg19_refseq=,CALM2:805;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:805;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:805;Genotype=,G/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:1445;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:1445;Homo_sapiens_refseq_GRCh37.p13_Genes=,CALM2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001743.5|NM_001305624.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene4461;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna6902|rna6903;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:114182;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:114182;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene4461;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,47403674;RS_dbsnp_common_v150_hg19_refseq=,377288714;Read_count=,75;Read_coverage=,188;Read_direction_test_probability=,0.9838620042536236;Read_position_test_probability=,0.8139290119696415;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001743.5|NM_001305624.1;Reverse_read_coverage=,120;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=16;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.99763|0.00236983;U5_dbsnp_common_v150_hg19_refseq=,U5;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050000480a05040026000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:805|HGNC:HGNC:1445|MIM:114182;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001743.5|Genbank:NM_001305624.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,calmodulin_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CALM2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,CALM2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,caM|CAMII|LQT15|PHKD|PHKD2;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,calmodulin_2|_transcript_variant_2|calmodulin_2|_transcript_variant_1;transcript_id=,NM_001743.5|NM_001305624.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CALM2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CALM2:NM_001305624:exon1:c.C7A:p.R3S;cytoBand=2p21;genomicSuperDups=.;esp6500siv2_all=0.0007;esp6500siv2_ea=.;esp6500siv2_all=0.0007;esp6500siv2_ea=.;1000g2015aug_all=0.00139776;avsnp147=rs377288714;Kaviar_AF=0.0002975;Kaviar_AC=46;Kaviar_AN=154602;ExAC_ALL=0.0006;ExAC_AFR=0.0060;ExAC_AMR=0.0003;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0003;gnomAD_exome_AFR=0.0046;gnomAD_exome_AMR=0.0003;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=2.582e-05;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=3.982e-05;gnomAD_genome_ALL=0.0015;gnomAD_genome_AFR=0.0052;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . 1:160:0,65 . . . . . . . . . . . . . . . . . . . . . . . . . 2 105977761 48332;rs11124029 G A 170.58 . #_unique_end_positions=,35;#_unique_start_positions=,41;AC=13;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0809;AF_ESP_clinvar_20171029_hg19=,0.1644;AF_EXAC_clinvar_20171029_hg19=,0.15667;AF_TGP_clinvar_20171029_hg19=,0.1114;ALLELEID_clinvar_20171029_hg19=,57494;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1614;AN=13;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.19;CAF_dbsnp_common_v150_hg19_refseq=,0.8886|0.1114;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.105977761G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_single_submitter;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001039492.2:c.819C>T|_NM_001318894.1:c.819C>T|_NM_001318895.1:c.819C>T|_NM_001318896.1:c.819C>T|_NM_001318897.1:c.477C>T|_NM_001318898.1:c.477C>T|_NM_001318899.1:c.495C>T|_NM_001450.3:c.819C>T|_NM_201555.1:c.819C>T|_NM_201557.3:c.819C>T;Coding_region_change_in_longest_transcript=,NM_201555.1:c.819C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0258;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1988;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,29;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,FHL2:2274;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:2274;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:2274;Genotype=,A/A;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:3703;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:3703;Homo_sapiens_refseq_GRCh37.p13_Genes=,FHL2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001318896.1|NM_001039492.2|NM_001318899.1|NM_001450.3|NM_001318898.1|NM_001318895.1|NM_201555.1|NM_001318894.1|NM_001318897.1|NM_201557.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene5258;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna7899|rna7900|rna7901|rna7895|rna7896|rna7897|rna7898|rna7894|rna7892|rna7893;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:602633;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:602633;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene5258;QUAL=,156.53559774527022;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,105977761;RS_dbsnp_common_v150_hg19_refseq=,11124029;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,61;Read_coverage=,61;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001318896.1|NM_001039492.2|NM_001318899.1|NM_001450.3|NM_001318898.1|NM_001318895.1|NM_201555.1|NM_001318894.1|NM_001318897.1|NM_201557.3;Reverse_read_coverage=,32;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1155;SF=3,5,7,8,12,17,22,24,28,32,37,40;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.854582|0.145418;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05012800030515053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.122449;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.221239;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.109756;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.0117647;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.136364;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0697674;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.0888889;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.14;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.0422535;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.176136;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0840708;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.512;db_xref=,GeneID:2274|HGNC:HGNC:3703|MIM:602633;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001318896.1|Genbank:NM_001039492.2|Genbank:NM_001318899.1|Genbank:NM_001450.3|Genbank:NM_001318898.1|Genbank:NM_001318895.1|Genbank:NM_201555.1|Genbank:NM_001318894.1|Genbank:NM_001318897.1|Genbank:NM_201557.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,four_and_a_half_LIM_domains_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,FHL2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,FHL2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,AAG11|DRAL|FHL-2|SLIM-3|SLIM3;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,four_and_a_half_LIM_domains_2|_transcript_variant_8|four_and_a_half_LIM_domains_2|_transcript_variant_5|four_and_a_half_LIM_domains_2|_transcript_variant_11|four_and_a_half_LIM_domains_2|_transcript_variant_1|four_and_a_half_LIM_domains_2|_transcript_variant_10|four_and_a_half_LIM_domains_2|_transcript_variant_7|four_and_a_half_LIM_domains_2|_transcript_variant_2|four_and_a_half_LIM_domains_2|_transcript_variant_6|four_and_a_half_LIM_domains_2|_transcript_variant_9|four_and_a_half_LIM_domains_2|_transcript_variant_4;transcript_id=,NM_001318896.1|NM_001039492.2|NM_001318899.1|NM_001450.3|NM_001318898.1|NM_001318895.1|NM_201555.1|NM_001318894.1|NM_001318897.1|NM_201557.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FHL2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FHL2:NM_001450:exon6:c.C819T:p.P273P,FHL2:NM_201557:exon6:c.C819T:p.P273P,FHL2:NM_001039492:exon7:c.C819T:p.P273P,FHL2:NM_201555:exon8:c.C819T:p.P273P;cytoBand=2q12.1;genomicSuperDups=.;esp6500siv2_all=0.1644;esp6500siv2_ea=0.1959;esp6500siv2_all=0.1644;esp6500siv2_ea=0.1959;1000g2015aug_all=0.111422;avsnp147=rs11124029;Kaviar_AF=0.157094;Kaviar_AC=24287;Kaviar_AN=154602;ExAC_ALL=0.1567;ExAC_AFR=0.0996;ExAC_AMR=0.0803;ExAC_EAS=0.0243;ExAC_FIN=0.2430;ExAC_NFE=0.1934;ExAC_OTH=0.1839;ExAC_SAS=0.1312;CLNALLELEID=57494;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1593;gnomAD_exome_AFR=0.0991;gnomAD_exome_AMR=0.0907;gnomAD_exome_ASJ=0.2142;gnomAD_exome_EAS=0.0255;gnomAD_exome_FIN=0.2473;gnomAD_exome_NFE=0.1935;gnomAD_exome_OTH=0.1756;gnomAD_exome_SAS=0.1307;gnomAD_genome_ALL=0.1609;gnomAD_genome_AFR=0.1045;gnomAD_genome_AMR=0.1014;gnomAD_genome_ASJ=0.2384;gnomAD_genome_EAS=0.0228;gnomAD_genome_FIN=0.2424;gnomAD_genome_NFE=0.1913;gnomAD_genome_OTH=0.1640;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . 1/1:50:0,50 . 1:59:0,34 . 1:37:0,12 1:54:0,29 . . . 1:63:0,28 . . . . 1:70:0,38 . . . . 1:58:0,21 . 1:76:0,41 . . . 1:72:0,34 . . . 1:60:0,29 . . . . 1:39:0,16 . . 1:70:0,36 . 2 105977776 48331;rs3087523 G A 135.97 . #_unique_end_positions=,27;#_unique_start_positions=,24;AC=11;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0068;AF_ESP_clinvar_20171029_hg19=,0.0929;AF_EXAC_clinvar_20171029_hg19=,0.09126;AF_TGP_clinvar_20171029_hg19=,0.0517;ALLELEID_clinvar_20171029_hg19=,57493;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1066;AN=11;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.9483|0.05172;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.105977776G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_single_submitter;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001039492.2:c.804C>T|_NM_001318894.1:c.804C>T|_NM_001318895.1:c.804C>T|_NM_001318896.1:c.804C>T|_NM_001318897.1:c.462C>T|_NM_001318898.1:c.462C>T|_NM_001318899.1:c.480C>T|_NM_001450.3:c.804C>T|_NM_201555.1:c.804C>T|_NM_201557.3:c.804C>T;Coding_region_change_in_longest_transcript=,NM_201555.1:c.804C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0238;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1103;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI;Forward_read_coverage=,37;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,FHL2:2274;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:2274;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:2274;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:3703;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:3703;Homo_sapiens_refseq_GRCh37.p13_Genes=,FHL2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001318896.1|NM_001039492.2|NM_001318899.1|NM_001450.3|NM_001318898.1|NM_001318895.1|NM_201555.1|NM_001318894.1|NM_001318897.1|NM_201557.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene5258;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna7899|rna7900|rna7901|rna7895|rna7896|rna7897|rna7898|rna7894|rna7892|rna7893;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:602633;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:602633;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene5258;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,105977776;RS_dbsnp_common_v150_hg19_refseq=,3087523;Read_count=,30;Read_coverage=,75;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9155512883405849;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001318896.1|NM_001039492.2|NM_001318899.1|NM_001450.3|NM_001318898.1|NM_001318895.1|NM_201555.1|NM_001318894.1|NM_001318897.1|NM_201557.3;Reverse_read_coverage=,38;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0419;SF=0,4,6,10,13,14,23,25,30,36,38;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.933473|0.066527;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128000305150537000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.0306122;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.123894;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.0121951;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.0176471;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.0511364;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0348837;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0465116;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.07;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.00714286;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.119318;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.02;db_xref=,GeneID:2274|HGNC:HGNC:3703|MIM:602633;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001318896.1|Genbank:NM_001039492.2|Genbank:NM_001318899.1|Genbank:NM_001450.3|Genbank:NM_001318898.1|Genbank:NM_001318895.1|Genbank:NM_201555.1|Genbank:NM_001318894.1|Genbank:NM_001318897.1|Genbank:NM_201557.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,four_and_a_half_LIM_domains_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,FHL2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,FHL2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,AAG11|DRAL|FHL-2|SLIM-3|SLIM3;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,four_and_a_half_LIM_domains_2|_transcript_variant_8|four_and_a_half_LIM_domains_2|_transcript_variant_5|four_and_a_half_LIM_domains_2|_transcript_variant_11|four_and_a_half_LIM_domains_2|_transcript_variant_1|four_and_a_half_LIM_domains_2|_transcript_variant_10|four_and_a_half_LIM_domains_2|_transcript_variant_7|four_and_a_half_LIM_domains_2|_transcript_variant_2|four_and_a_half_LIM_domains_2|_transcript_variant_6|four_and_a_half_LIM_domains_2|_transcript_variant_9|four_and_a_half_LIM_domains_2|_transcript_variant_4;transcript_id=,NM_001318896.1|NM_001039492.2|NM_001318899.1|NM_001450.3|NM_001318898.1|NM_001318895.1|NM_201555.1|NM_001318894.1|NM_001318897.1|NM_201557.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FHL2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FHL2:NM_001450:exon6:c.C804T:p.D268D,FHL2:NM_201557:exon6:c.C804T:p.D268D,FHL2:NM_001039492:exon7:c.C804T:p.D268D,FHL2:NM_201555:exon8:c.C804T:p.D268D;cytoBand=2q12.1;genomicSuperDups=.;esp6500siv2_all=0.0929;esp6500siv2_ea=0.1270;esp6500siv2_all=0.0929;esp6500siv2_ea=0.1270;1000g2015aug_all=0.0517173;avsnp147=rs3087523;Kaviar_AF=0.0922368;Kaviar_AC=14260;Kaviar_AN=154602;ExAC_ALL=0.0913;ExAC_AFR=0.0222;ExAC_AMR=0.0970;ExAC_EAS=0.0274;ExAC_FIN=0.0915;ExAC_NFE=0.1184;ExAC_OTH=0.0958;ExAC_SAS=0.0542;CLNALLELEID=57493;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0938;gnomAD_exome_AFR=0.0222;gnomAD_exome_AMR=0.0989;gnomAD_exome_ASJ=0.0917;gnomAD_exome_EAS=0.0255;gnomAD_exome_FIN=0.0969;gnomAD_exome_NFE=0.1223;gnomAD_exome_OTH=0.1068;gnomAD_exome_SAS=0.0550;gnomAD_genome_ALL=0.0853;gnomAD_genome_AFR=0.0282;gnomAD_genome_AMR=0.1029;gnomAD_genome_ASJ=0.0894;gnomAD_genome_EAS=0.0247;gnomAD_genome_FIN=0.1110;gnomAD_genome_NFE=0.1172;gnomAD_genome_OTH=0.0961;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:64:0,28 . . . 1:34:0,18 . 1:40:0,17 . . . 1:43:0,17 . . 1:43:0,23 1:74:0,35 . . . . . . . . 1:60:0,29 . 1:50:0,35 . . . . 1:57:0,27 . . . . . 1:49:0,13 . 1:32:0,13 . . . 2 105979752 48326;rs137869171 G A 200.00 . #_unique_end_positions=,38;#_unique_start_positions=,41;AC=2;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0008;AF_ESP_clinvar_20171029_hg19=,0.0090;AF_EXAC_clinvar_20171029_hg19=,0.00535;AF_TGP_clinvar_20171029_hg19=,0.0046;ALLELEID_clinvar_20171029_hg19=,57488;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0130;AN=2;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.34;CAF_dbsnp_common_v150_hg19_refseq=,0.9954|0.004593|.;CLNDISDB_clinvar_20171029_hg19=,MedGen:C0007193|Orphanet:ORPHA217604|SNOMED_CT:195021004|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Primary_dilated_cardiomyopathy|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.105979752G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001039492.2:c.678C>T|_NM_001318894.1:c.678C>T|_NM_001318895.1:c.678C>T|_NM_001318896.1:c.678C>T|_NM_001318897.1:c.336C>T|_NM_001318898.1:c.336C>T|_NM_001318899.1:c.354C>T|_NM_001450.3:c.678C>T|_NM_201555.1:c.678C>T|_NM_201557.3:c.678C>T;Coding_region_change_in_longest_transcript=,NM_201555.1:c.678C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0129;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,138;GENEINFO_dbsnp_common_v150_hg19_refseq=,FHL2:2274;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:2274;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:2274;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:3703;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:3703;Homo_sapiens_refseq_GRCh37.p13_Genes=,FHL2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001318896.1|NM_001039492.2|NM_001318899.1|NM_001450.3|NM_001318898.1|NM_001318895.1|NM_201555.1|NM_001318894.1|NM_001318897.1|NM_201557.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene5258;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna7899|rna7900|rna7901|rna7895|rna7896|rna7897|rna7898|rna7894|rna7892|rna7893;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:602633;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:602633;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene5258;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,105979752;RS_dbsnp_common_v150_hg19_refseq=,137869171;Read_count=,84;Read_coverage=,189;Read_direction_test_probability=,0.9514907871655077;Read_position_test_probability=,0.5823830649309338;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001318896.1|NM_001039492.2|NM_001318899.1|NM_001450.3|NM_001318898.1|NM_001318895.1|NM_201555.1|NM_001318894.1|NM_001318897.1|NM_201557.3;Reverse_read_coverage=,51;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=5,17;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.994058|0.00594175|.;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050068000305040436100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:2274|HGNC:HGNC:3703|MIM:602633;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001318896.1|Genbank:NM_001039492.2|Genbank:NM_001318899.1|Genbank:NM_001450.3|Genbank:NM_001318898.1|Genbank:NM_001318895.1|Genbank:NM_201555.1|Genbank:NM_001318894.1|Genbank:NM_001318897.1|Genbank:NM_201557.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,four_and_a_half_LIM_domains_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,FHL2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,FHL2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,AAG11|DRAL|FHL-2|SLIM-3|SLIM3;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,four_and_a_half_LIM_domains_2|_transcript_variant_8|four_and_a_half_LIM_domains_2|_transcript_variant_5|four_and_a_half_LIM_domains_2|_transcript_variant_11|four_and_a_half_LIM_domains_2|_transcript_variant_1|four_and_a_half_LIM_domains_2|_transcript_variant_10|four_and_a_half_LIM_domains_2|_transcript_variant_7|four_and_a_half_LIM_domains_2|_transcript_variant_2|four_and_a_half_LIM_domains_2|_transcript_variant_6|four_and_a_half_LIM_domains_2|_transcript_variant_9|four_and_a_half_LIM_domains_2|_transcript_variant_4;transcript_id=,NM_001318896.1|NM_001039492.2|NM_001318899.1|NM_001450.3|NM_001318898.1|NM_001318895.1|NM_201555.1|NM_001318894.1|NM_001318897.1|NM_201557.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FHL2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FHL2:NM_001450:exon5:c.C678T:p.N226N,FHL2:NM_201557:exon5:c.C678T:p.N226N,FHL2:NM_001039492:exon6:c.C678T:p.N226N,FHL2:NM_201555:exon7:c.C678T:p.N226N;cytoBand=2q12.1;genomicSuperDups=.;esp6500siv2_all=0.0090;esp6500siv2_ea=0.0126;esp6500siv2_all=0.0090;esp6500siv2_ea=0.0126;1000g2015aug_all=0.00459265;avsnp147=rs137869171;Kaviar_AF=0.0062289;Kaviar_AC=963;Kaviar_AN=154602;ExAC_ALL=0.0053;ExAC_AFR=0.0019;ExAC_AMR=0.0060;ExAC_EAS=0;ExAC_FIN=0.0083;ExAC_NFE=0.0075;ExAC_OTH=0.0067;ExAC_SAS=6.109e-05;CLNALLELEID=57488;CLNDN=Primary_dilated_cardiomyopathy|not_specified;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0706;dpsi_zscore=0.384;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0068;gnomAD_exome_AFR=0.0017;gnomAD_exome_AMR=0.0091;gnomAD_exome_ASJ=0.0009;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0093;gnomAD_exome_NFE=0.0098;gnomAD_exome_OTH=0.0073;gnomAD_exome_SAS=0.0001;gnomAD_genome_ALL=0.0075;gnomAD_genome_AFR=0.0033;gnomAD_genome_AMR=0.0131;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0092;gnomAD_genome_NFE=0.0103;gnomAD_genome_OTH=0.0041;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-10 GT:DP:CLCAD2 . . . . . 1:163:0,76 . . . . . . . . . . . 1:106:0,46 . . . . . . . . . . . . . . . . . . . . . . . . 2 179391754 178150;rs377439315 A G 200.00 . #_unique_end_positions=,25;#_unique_start_positions=,17;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0008;AF_EXAC_clinvar_20171029_hg19=,0.00063;AF_TGP_clinvar_20171029_hg19=,0.0004;ALLELEID_clinvar_20171029_hg19=,172800;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AN=1;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1837342|OMIM:608807|Orphanet:ORPHA140922|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1858763|OMIM:604145|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy|_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179391754A>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_conflicting_interpretations;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:136305;Coding_region_change=,NM_001256850.1:c.103038T>C|_NM_001267550.2:c.107961T>C|_NM_003319.4:c.80766T>C|_NM_133378.4:c.100257T>C|_NM_133432.3:c.81141T>C|_NM_133437.4:c.81342T>C;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.107961T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0020;Exact_match=,clinvar_20171029_hg19|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,54;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:100506866|GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:44124|HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN-AS1|TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6048|gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;Read_count=,36;Read_coverage=,74;Read_direction_test_probability=,0.9719407108398165;Read_position_test_probability=,0.8540193584692244;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,20;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=2;conservation_score=,0.201;db_xref=,GeneID:100506866|HGNC:HGNC:44124|GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN_antisense_RNA_1|titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN-AS1|TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lncRNA|protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon191:c.T80766C:p.H26922H,TTN:NM_133432:exon192:c.T81141C:p.H27047H,TTN:NM_133437:exon192:c.T81342C:p.H27114H,TTN:NM_133378:exon312:c.T100257C:p.H33419H,TTN:NM_001256850:exon313:c.T103038C:p.H34346H,TTN:NM_001267550:exon363:c.T107961C:p.H35987H;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0008;esp6500siv2_ea=0.0011;esp6500siv2_all=0.0008;esp6500siv2_ea=0.0011;1000g2015aug_all=0.000399361;avsnp147=rs377439315;Kaviar_AF=0.0006727;Kaviar_AC=104;Kaviar_AN=154602;ExAC_ALL=0.0006;ExAC_AFR=0.0004;ExAC_AMR=9.568e-05;ExAC_EAS=0;ExAC_FIN=0.0003;ExAC_NFE=0.0010;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=172800;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0007;gnomAD_exome_AFR=0.0003;gnomAD_exome_AMR=0.0003;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0005;gnomAD_exome_NFE=0.0013;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0008;gnomAD_genome_AFR=0.0005;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0013;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . 1:70:0,35 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2 179393111 47718;rs16866378 A G 162.27 . #_unique_end_positions=,25;#_unique_start_positions=,21;AC=6;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1354;AF_ESP_clinvar_20171029_hg19=,0.0513;AF_EXAC_clinvar_20171029_hg19=,0.04466;AF_TGP_clinvar_20171029_hg19=,0.0921;ALLELEID_clinvar_20171029_hg19=,56882;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0403;AN=6;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_596869.4:p.Val33188Ala|_NP_001254479.2:p.Val35756Ala|_NP_597681.4:p.Val26883Ala|_NP_597676.3:p.Val26816Ala|_NP_001243779.1:p.Val34115Ala|_NP_003310.4:p.Val26691Ala;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Val35756Ala;BaseQRankSum=,-0.23;CAF_dbsnp_common_v150_hg19_refseq=,0.9079|0.09205;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1837342|OMIM:608807|Orphanet:ORPHA140922|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1858763|OMIM:604145|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy|_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179393111A>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:70137;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.102344T>C|_NM_001267550.2:c.107267T>C|_NM_003319.4:c.80072T>C|_NM_133378.4:c.99563T>C|_NM_133432.3:c.80447T>C|_NM_133437.4:c.80648T>C;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.107267T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1736;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0318;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,52;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273|TTN-AS1:100506866;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:100506866|GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:44124|HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN-AS1|TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6048|gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179393111;RS_dbsnp_common_v150_hg19_refseq=,16866378;Read_count=,32;Read_coverage=,75;Read_direction_test_probability=,0.8486597675340908;Read_position_test_probability=,0.7240801339182974;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,23;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0481;SF=0,5,15,35,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.928738|0.0712618;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050328080a05150537000101;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.102041;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0132743;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.195122;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.164706;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.0284091;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.209302;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.168605;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.144444;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.04;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.104895;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.0568182;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.115044;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.021;db_xref=,GeneID:100506866|HGNC:HGNC:44124|GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN_antisense_RNA_1|titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN-AS1|TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lncRNA|protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon189:c.T80072C:p.V26691A,TTN:NM_133432:exon190:c.T80447C:p.V26816A,TTN:NM_133437:exon190:c.T80648C:p.V26883A,TTN:NM_133378:exon310:c.T99563C:p.V33188A,TTN:NM_001256850:exon311:c.T102344C:p.V34115A,TTN:NM_001267550:exon361:c.T107267C:p.V35756A;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0513;esp6500siv2_ea=0.0207;esp6500siv2_all=0.0513;esp6500siv2_ea=0.0207;1000g2015aug_all=0.0920527;avsnp147=rs16866378;Kaviar_AF=0.0430007;Kaviar_AC=6648;Kaviar_AN=154602;ExAC_ALL=0.0447;ExAC_AFR=0.1266;ExAC_AMR=0.0313;ExAC_EAS=0.1664;ExAC_FIN=0.0027;ExAC_NFE=0.0216;ExAC_OTH=0.0471;ExAC_SAS=0.0517;CLNALLELEID=56882;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.127;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.004;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=1.44;MutationAssessor_pred=L;FATHMM_score=-0.19;FATHMM_pred=T;PROVEAN_score=-1.8;PROVEAN_pred=N;VEST3_score=0.047;CADD_raw=0.471;CADD_phred=7.207;DANN_score=0.642;fathmm-MKL_coding_score=0.459;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.053;MetaSVM_pred=T;MetaLR_score=0.001;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=1.24;phyloP7way_vertebrate=0.126;phyloP20way_mammalian=1.199;phastCons7way_vertebrate=0.609;phastCons20way_mammalian=0.904;SiPhy_29way_logOdds=9.842;GDI_full_10282015=.;dpsi_max_tissue=-0.1213;dpsi_zscore=-0.510;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0432;gnomAD_exome_AFR=0.1268;gnomAD_exome_AMR=0.0338;gnomAD_exome_ASJ=0.0412;gnomAD_exome_EAS=0.1758;gnomAD_exome_FIN=0.0034;gnomAD_exome_NFE=0.0205;gnomAD_exome_OTH=0.0393;gnomAD_exome_SAS=0.0502;gnomAD_genome_ALL=0.0569;gnomAD_genome_AFR=0.1323;gnomAD_genome_AMR=0.0382;gnomAD_genome_ASJ=0.0464;gnomAD_genome_EAS=0.1582;gnomAD_genome_FIN=0.0011;gnomAD_genome_NFE=0.0187;gnomAD_genome_OTH=0.0224;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 1:72:0,31 . . . . 1:49:0,24 . . . . . . . . . 1:49:0,28 . . . . . . . . . . . . . . . . . . . 1:58:0,21 . . . . 1:76:0,40 1:48:0,18 2 179393691 47712;rs55842557 G A 99.83 . #_unique_end_positions=,20;#_unique_start_positions=,19;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0049;AF_EXAC_clinvar_20171029_hg19=,0.00979;AF_TGP_clinvar_20171029_hg19=,0.0038;ALLELEID_clinvar_20171029_hg19=,56876;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0043;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_597681.4:p.Thr26723Ile|_NP_003310.4:p.Thr26531Ile|_NP_001254479.2:p.Thr35596Ile|_NP_001243779.1:p.Thr33955Ile|_NP_596869.4:p.Thr33028Ile|_NP_597676.3:p.Thr26656Ile;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Thr35596Ile;BaseQRankSum=,-0.16;CAF_dbsnp_common_v150_hg19_refseq=,0.9962|0.003794;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1837342|OMIM:608807|Orphanet:ORPHA140922|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1858763|OMIM:604145|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy|_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179393691G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:125562;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.101864C>T|_NM_001267550.2:c.106787C>T|_NM_003319.4:c.79592C>T|_NM_133378.4:c.99083C>T|_NM_133432.3:c.79967C>T|_NM_133437.4:c.80168C>T;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.106787C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0159;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,42;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273|TTN-AS1:100506866;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:100506866|GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:44124|HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN-AS1|TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6048|gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,99.82862230331179;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179393691;RS_dbsnp_common_v150_hg19_refseq=,55842557;Read_count=,23;Read_coverage=,69;Read_direction_test_probability=,0.7665381369178143;Read_position_test_probability=,0.6937030342798307;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,27;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=2;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.996806|0.0031939;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050228080a05040436000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:100506866|HGNC:HGNC:44124|GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN_antisense_RNA_1|titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN-AS1|TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lncRNA|protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon188:c.C79592T:p.T26531I,TTN:NM_133432:exon189:c.C79967T:p.T26656I,TTN:NM_133437:exon189:c.C80168T:p.T26723I,TTN:NM_133378:exon309:c.C99083T:p.T33028I,TTN:NM_001256850:exon310:c.C101864T:p.T33955I,TTN:NM_001267550:exon360:c.C106787T:p.T35596I;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0049;esp6500siv2_ea=0.0068;esp6500siv2_all=0.0049;esp6500siv2_ea=0.0068;1000g2015aug_all=0.00379393;avsnp147=rs55842557;Kaviar_AF=0.0086674;Kaviar_AC=1340;Kaviar_AN=154602;ExAC_ALL=0.0098;ExAC_AFR=0.0013;ExAC_AMR=0.0012;ExAC_EAS=0;ExAC_FIN=0.0764;ExAC_NFE=0.0094;ExAC_OTH=0.0200;ExAC_SAS=0.0004;CLNALLELEID=56876;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.473;SIFT_pred=T;Polyphen2_HDIV_score=0.257;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.068;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.992;MutationTaster_pred=N;MutationAssessor_score=0.695;MutationAssessor_pred=N;FATHMM_score=0.25;FATHMM_pred=T;PROVEAN_score=-3.01;PROVEAN_pred=D;VEST3_score=0.158;CADD_raw=3.210;CADD_phred=22.7;DANN_score=0.784;fathmm-MKL_coding_score=0.951;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.944;MetaSVM_pred=T;MetaLR_score=0.084;MetaLR_pred=T;integrated_fitCons_score=0.493;integrated_confidence_value=0;GERP++_RS=4.74;phyloP7way_vertebrate=-0.045;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.969;phastCons20way_mammalian=0.999;SiPhy_29way_logOdds=13.248;GDI_full_10282015=.;dpsi_max_tissue=-0.0031;dpsi_zscore=0.007;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0107;gnomAD_exome_AFR=0.0010;gnomAD_exome_AMR=0.0013;gnomAD_exome_ASJ=0.0008;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0697;gnomAD_exome_NFE=0.0083;gnomAD_exome_OTH=0.0108;gnomAD_exome_SAS=0.0006;gnomAD_genome_ALL=0.0167;gnomAD_genome_AFR=0.0007;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0673;gnomAD_genome_NFE=0.0160;gnomAD_genome_OTH=0.0326;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-4 GT:DP:CLCAD2 . . 1:65:0,21 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2 179393859 47710;rs55880440 A G 200.00 . #_unique_end_positions=,29;#_unique_start_positions=,26;AC=2;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0136;AF_EXAC_clinvar_20171029_hg19=,0.01423;AF_TGP_clinvar_20171029_hg19=,0.0046;ALLELEID_clinvar_20171029_hg19=,56874;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0144;AN=2;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_003310.4:p.Ile26475Thr|_NP_597676.3:p.Ile26600Thr|_NP_001243779.1:p.Ile33899Thr|_NP_597681.4:p.Ile26667Thr|_NP_596869.4:p.Ile32972Thr|_NP_001254479.2:p.Ile35540Thr;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Ile35540Thr;BaseQRankSum=,-0.1;CAF_dbsnp_common_v150_hg19_refseq=,0.9954|0.004593;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1837342|OMIM:608807|Orphanet:ORPHA140922|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1858763|OMIM:604145|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy|_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179393859A>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_conflicting_interpretations;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:104039;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.101696T>C|_NM_001267550.2:c.106619T>C|_NM_003319.4:c.79424T>C|_NM_133378.4:c.98915T>C|_NM_133432.3:c.79799T>C|_NM_133437.4:c.80000T>C;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.106619T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0109;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,15;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273|TTN-AS1:100506866;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:100506866|GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:44124|HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN-AS1|TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6048|gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179393859;RS_dbsnp_common_v150_hg19_refseq=,55880440;Read_count=,31;Read_coverage=,90;Read_direction_test_probability=,0.9598646886872513;Read_position_test_probability=,0.97744381253965;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,75;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0020;SF=24,40;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.990178|0.0098221;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050328080a05040436000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.997;db_xref=,GeneID:100506866|HGNC:HGNC:44124|GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN_antisense_RNA_1|titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN-AS1|TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lncRNA|protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon188:c.T79424C:p.I26475T,TTN:NM_133432:exon189:c.T79799C:p.I26600T,TTN:NM_133437:exon189:c.T80000C:p.I26667T,TTN:NM_133378:exon309:c.T98915C:p.I32972T,TTN:NM_001256850:exon310:c.T101696C:p.I33899T,TTN:NM_001267550:exon360:c.T106619C:p.I35540T;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0136;esp6500siv2_ea=0.0178;esp6500siv2_all=0.0136;esp6500siv2_ea=0.0178;1000g2015aug_all=0.00459265;avsnp147=rs55880440;Kaviar_AF=0.0124449;Kaviar_AC=1924;Kaviar_AN=154602;ExAC_ALL=0.0142;ExAC_AFR=0.0037;ExAC_AMR=0.0050;ExAC_EAS=0;ExAC_FIN=0.0206;ExAC_NFE=0.0201;ExAC_OTH=0.0234;ExAC_SAS=0.0072;CLNALLELEID=56874;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.093;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.994;MutationTaster_pred=N;MutationAssessor_score=0.55;MutationAssessor_pred=N;FATHMM_score=0.13;FATHMM_pred=T;PROVEAN_score=-2.58;PROVEAN_pred=D;VEST3_score=0.516;CADD_raw=2.010;CADD_phred=16.28;DANN_score=0.765;fathmm-MKL_coding_score=0.663;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.981;MetaSVM_pred=T;MetaLR_score=0.081;MetaLR_pred=T;integrated_fitCons_score=0.493;integrated_confidence_value=0;GERP++_RS=1.63;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=0.238;phastCons7way_vertebrate=0.995;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=6.346;GDI_full_10282015=.;dpsi_max_tissue=0.0064;dpsi_zscore=0.044;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0123;gnomAD_exome_AFR=0.0028;gnomAD_exome_AMR=0.0053;gnomAD_exome_ASJ=0.0146;gnomAD_exome_EAS=6.32e-05;gnomAD_exome_FIN=0.0181;gnomAD_exome_NFE=0.0176;gnomAD_exome_OTH=0.0122;gnomAD_exome_SAS=0.0063;gnomAD_genome_ALL=0.0127;gnomAD_genome_AFR=0.0040;gnomAD_genome_AMR=0.0060;gnomAD_genome_ASJ=0.0364;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0204;gnomAD_genome_NFE=0.0172;gnomAD_genome_OTH=0.0133;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . 1:85:0,31 . . . . . . . . . . . . . . . 1:70:0,36 . 2 179395067 47704;rs56207956 C G 200.00 . #_unique_end_positions=,24;#_unique_start_positions=,22;AC=8;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0726;AF_ESP_clinvar_20171029_hg19=,0.0840;AF_EXAC_clinvar_20171029_hg19=,0.06654;AF_TGP_clinvar_20171029_hg19=,0.0509;ALLELEID_clinvar_20171029_hg19=,56868;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0692;AN=8;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.71;CAF_dbsnp_common_v150_hg19_refseq=,0.9491|0.05092;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179395067C>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:26781;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.101352G>C|_NM_001267550.2:c.106275G>C|_NM_003319.4:c.79080G>C|_NM_133378.4:c.98571G>C|_NM_133432.3:c.79455G>C|_NM_133437.4:c.79656G>C;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.106275G>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0875;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,35;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273|TTN-AS1:100506866;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:100506866|GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,C/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:44124|HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN-AS1|TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6048|gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179395067;RS_dbsnp_common_v150_hg19_refseq=,56207956;Read_count=,30;Read_coverage=,65;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.990921703526316;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,30;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0235;SF=9,11,12,21,22,34,37,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.927468|0.0725325;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05032808030515043e000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:100506866|HGNC:HGNC:44124|GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN_antisense_RNA_1|titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN-AS1|TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lncRNA|protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon186:c.G79080C:p.G26360G,TTN:NM_133432:exon187:c.G79455C:p.G26485G,TTN:NM_133437:exon187:c.G79656C:p.G26552G,TTN:NM_133378:exon307:c.G98571C:p.G32857G,TTN:NM_001256850:exon308:c.G101352C:p.G33784G,TTN:NM_001267550:exon358:c.G106275C:p.G35425G;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0840;esp6500siv2_ea=0.0874;esp6500siv2_all=0.0840;esp6500siv2_ea=0.0874;1000g2015aug_all=0.0509185;avsnp147=rs56207956;Kaviar_AF=0.0668685;Kaviar_AC=10338;Kaviar_AN=154602;ExAC_ALL=0.0665;ExAC_AFR=0.0707;ExAC_AMR=0.0441;ExAC_EAS=0.0001;ExAC_FIN=0.0750;ExAC_NFE=0.0878;ExAC_OTH=0.0667;ExAC_SAS=0.0253;CLNALLELEID=56868;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0006;dpsi_zscore=0.015;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0646;gnomAD_exome_AFR=0.0730;gnomAD_exome_AMR=0.0461;gnomAD_exome_ASJ=0.0551;gnomAD_exome_EAS=5.799e-05;gnomAD_exome_FIN=0.0721;gnomAD_exome_NFE=0.0890;gnomAD_exome_OTH=0.0773;gnomAD_exome_SAS=0.0239;gnomAD_genome_ALL=0.0763;gnomAD_genome_AFR=0.0743;gnomAD_genome_AMR=0.0573;gnomAD_genome_ASJ=0.0530;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0770;gnomAD_genome_NFE=0.0873;gnomAD_genome_OTH=0.0706;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 . . . . . . . . . 1:64:0,29 . 1:72:0,41 1:78:0,34 . . . . . . . . 1:73:0,38 1:58:0,28 . . . . . . . . . . . 1:83:0,46 . . 1:67:0,33 . . . 1:77:0,36 2 179395554 202340;47701;47702;rs66961115;rs67254537 GC AA 200.00 . #_unique_end_positions=,50;#_unique_start_positions=,42;AC=3;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000|0.0000;AF_ESP_clinvar_20171029_hg19=,0.0105|0.0105;AF_EXAC_clinvar_20171029_hg19=,0.01138|0.01134;AF_TGP_clinvar_20171029_hg19=,0.0052|0.0052;ALLELEID_clinvar_20171029_hg19=,198701|56866|56865;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0043|0.0043;AN=3;Amino_acid_change=,NP_003310.4:p.Ala26198Phe|_NP_596869.4:p.Ala32695Phe|_NP_001243779.1:p.Ala33622Phe|_NP_001254479.2:p.Ala35263Phe|_NP_597676.3:p.Ala26323Phe|_NP_597681.4:p.Ala26390Phe;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Ala35263Phe;BaseQRankSum=,-0.38;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1837342|OMIM:608807|Orphanet:ORPHA140922|MedGen:C1858763|OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202|MedGen:CN169374|MedGen:CN230736|MedGen:CN169374|MedGen:CN230736;CLNDN_clinvar_20171029_hg19=,Limb-girdle_muscular_dystrophy|_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided|not_specified|Cardiovascular_phenotype|not_specified|Cardiovascular_phenotype;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179395554_179395555delGCinsAA|NC_000002.11:g.179395554G>A|NC_000002.11:g.179395555C>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts|criteria_provided|_multiple_submitters|_no_conflicts|criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:1000032|SO:0001483|SO:0001483;CLNVC_clinvar_20171029_hg19=,Indel|single_nucleotide_variant|single_nucleotide_variant;Coding_region_change=,NM_001256850.1:c.100864_100865delinsTT|_NM_001267550.2:c.105787_105788delinsTT|_NM_003319.4:c.78592_78593delinsTT|_NM_133378.4:c.98083_98084delinsTT|_NM_133432.3:c.78967_78968delinsTT|_NM_133437.4:c.79168_79169delinsTT;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.105787_105788delinsTT;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000|0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0229|0.0229;Exact_match=,clinvar_20171029_hg19|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,83;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:100506866|GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,complex;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:44124|HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN-AS1|TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6048|gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant|SO:0001583|missense_variant|SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1|1|1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;Read_count=,68;Read_coverage=,137;Read_direction_test_probability=,0.9899239638691044;Read_position_test_probability=,0.7474232044252411;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,54;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000|0.0000;SF=0,11,17;conservation_score=,0.984;db_xref=,GeneID:100506866|HGNC:HGNC:44124|GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN_antisense_RNA_1|titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN-AS1|TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lncRNA|protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonframeshift_substitution;AAChange.refGene=TTN:NM_003319:exon186:c.78592_78593TT,TTN:NM_133432:exon187:c.78967_78968TT,TTN:NM_133437:exon187:c.79168_79169TT,TTN:NM_133378:exon307:c.98083_98084TT,TTN:NM_001256850:exon308:c.100864_100865TT,TTN:NM_001267550:exon358:c.105787_105788TT;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs794729250;Kaviar_AF=0.0003428;Kaviar_AC=53;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=198701;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 1:115:0,55 . . . . . . . . . . 1:161:0,77 . . . . . 1:178:0,65 . . . . . . . . . . . . . . . . . . . . . . . . 2 179395560 47700;rs16866380 G A 200.00 . #_unique_end_positions=,46;#_unique_start_positions=,39;AC=6;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0885;AF_ESP_clinvar_20171029_hg19=,0.0358;AF_EXAC_clinvar_20171029_hg19=,0.04013;AF_TGP_clinvar_20171029_hg19=,0.0793;ALLELEID_clinvar_20171029_hg19=,56864;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0403;AN=6;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001254479.2:p.Pro35261Leu|_NP_597676.3:p.Pro26321Leu|_NP_596869.4:p.Pro32693Leu|_NP_597681.4:p.Pro26388Leu|_NP_003310.4:p.Pro26196Leu|_NP_001243779.1:p.Pro33620Leu;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Pro35261Leu;BaseQRankSum=,0.15;CAF_dbsnp_common_v150_hg19_refseq=,0.9207|0.07927;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1837342|OMIM:608807|Orphanet:ORPHA140922|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1858763|OMIM:604145|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy|_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179395560G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:70148;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.100859C>T|_NM_001267550.2:c.105782C>T|_NM_003319.4:c.78587C>T|_NM_133378.4:c.98078C>T|_NM_133432.3:c.78962C>T|_NM_133437.4:c.79163C>T;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.105782C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1716;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0318;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,81;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273|TTN-AS1:100506866;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:100506866|GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:44124|HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN-AS1|TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6048|gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179395560;RS_dbsnp_common_v150_hg19_refseq=,16866380;Read_count=,65;Read_coverage=,140;Read_direction_test_probability=,0.9323297840679249;Read_position_test_probability=,0.5603254238910556;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,59;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0481;SF=0,5,15,35,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.950477|0.0495226;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050328080a05150537000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.0510204;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0132743;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.195122;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.164706;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.0284091;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.209302;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.162791;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.0888889;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.04;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.0734266;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.0568182;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0575221;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.934;db_xref=,GeneID:100506866|HGNC:HGNC:44124|GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN_antisense_RNA_1|titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN-AS1|TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lncRNA|protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon186:c.C78587T:p.P26196L,TTN:NM_133432:exon187:c.C78962T:p.P26321L,TTN:NM_133437:exon187:c.C79163T:p.P26388L,TTN:NM_133378:exon307:c.C98078T:p.P32693L,TTN:NM_001256850:exon308:c.C100859T:p.P33620L,TTN:NM_001267550:exon358:c.C105782T:p.P35261L;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0358;esp6500siv2_ea=0.0208;esp6500siv2_all=0.0358;esp6500siv2_ea=0.0208;1000g2015aug_all=0.0792732;avsnp147=rs16866380;Kaviar_AF=0.038376;Kaviar_AC=5933;Kaviar_AN=154602;ExAC_ALL=0.0401;ExAC_AFR=0.0747;ExAC_AMR=0.0299;ExAC_EAS=0.1659;ExAC_FIN=0.0027;ExAC_NFE=0.0215;ExAC_OTH=0.0433;ExAC_SAS=0.0515;CLNALLELEID=56864;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.003;SIFT_pred=D;Polyphen2_HDIV_score=0.382;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.017;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=0.975;MutationAssessor_pred=L;FATHMM_score=-0.12;FATHMM_pred=T;PROVEAN_score=-4.67;PROVEAN_pred=D;VEST3_score=0.286;CADD_raw=3.557;CADD_phred=23.1;DANN_score=0.900;fathmm-MKL_coding_score=0.960;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.036;MetaSVM_pred=T;MetaLR_score=0.001;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=4.99;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.988;phastCons20way_mammalian=0.992;SiPhy_29way_logOdds=18.287;GDI_full_10282015=.;dpsi_max_tissue=-0.0121;dpsi_zscore=-0.052;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0396;gnomAD_exome_AFR=0.0743;gnomAD_exome_AMR=0.0317;gnomAD_exome_ASJ=0.0413;gnomAD_exome_EAS=0.1754;gnomAD_exome_FIN=0.0034;gnomAD_exome_NFE=0.0205;gnomAD_exome_OTH=0.0371;gnomAD_exome_SAS=0.0501;gnomAD_genome_ALL=0.0410;gnomAD_genome_AFR=0.0767;gnomAD_genome_AMR=0.0370;gnomAD_genome_ASJ=0.0464;gnomAD_genome_EAS=0.1588;gnomAD_genome_FIN=0.0011;gnomAD_genome_NFE=0.0186;gnomAD_genome_OTH=0.0194;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 1:113:0,55 . . . . 1:128:0,60 . . . . . . . . . 1:190:0,92 . . . . . . . . . . . . . . . . . . . 1:173:0,87 . . . . 1:144:0,56 1:149:0,81 2 179395573 47699;rs56324595 C T 200.00 . #_unique_end_positions=,46;#_unique_start_positions=,32;AC=4;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0128;AF_EXAC_clinvar_20171029_hg19=,0.01394;AF_TGP_clinvar_20171029_hg19=,0.0066;ALLELEID_clinvar_20171029_hg19=,56863;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0058;AN=4;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_597681.4:p.Glu26384Lys|_NP_597676.3:p.Glu26317Lys|_NP_596869.4:p.Glu32689Lys|_NP_003310.4:p.Glu26192Lys|_NP_001254479.2:p.Glu35257Lys|_NP_001243779.1:p.Glu33616Lys;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Glu35257Lys;BaseQRankSum=,-0.53;CAF_dbsnp_common_v150_hg19_refseq=,0.9934|0.006589;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1837342|OMIM:608807|Orphanet:ORPHA140922|MedGen:C1858763|OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNDN_clinvar_20171029_hg19=,Limb-girdle_muscular_dystrophy|_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179395573C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.100846G>A|_NM_001267550.2:c.105769G>A|_NM_003319.4:c.78574G>A|_NM_133378.4:c.98065G>A|_NM_133432.3:c.78949G>A|_NM_133437.4:c.79150G>A;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.105769G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0278;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,92;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273|TTN-AS1:100506866;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:100506866|GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:44124|HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN-AS1|TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6048|gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179395573;RS_dbsnp_common_v150_hg19_refseq=,56324595;Read_count=,75;Read_coverage=,156;Read_direction_test_probability=,0.6626374698658728;Read_position_test_probability=,0.3738936466158036;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,64;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;SF=0,4,11,17;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.99059|0.00940999;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050328080a0504043e000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:100506866|HGNC:HGNC:44124|GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN_antisense_RNA_1|titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN-AS1|TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lncRNA|protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon186:c.G78574A:p.E26192K,TTN:NM_133432:exon187:c.G78949A:p.E26317K,TTN:NM_133437:exon187:c.G79150A:p.E26384K,TTN:NM_133378:exon307:c.G98065A:p.E32689K,TTN:NM_001256850:exon308:c.G100846A:p.E33616K,TTN:NM_001267550:exon358:c.G105769A:p.E35257K;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0127;esp6500siv2_ea=0.0175;esp6500siv2_all=0.0127;esp6500siv2_ea=0.0175;1000g2015aug_all=0.00658946;avsnp147=rs56324595;Kaviar_AF=0.0137062;Kaviar_AC=2119;Kaviar_AN=154602;ExAC_ALL=0.0139;ExAC_AFR=0.0029;ExAC_AMR=0.0056;ExAC_EAS=0.0001;ExAC_FIN=0.0271;ExAC_NFE=0.0201;ExAC_OTH=0.0122;ExAC_SAS=0.0033;CLNALLELEID=56863;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.046;SIFT_pred=D;Polyphen2_HDIV_score=0.997;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.985;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=0.895;MutationAssessor_pred=L;FATHMM_score=0.18;FATHMM_pred=T;PROVEAN_score=-2.6;PROVEAN_pred=D;VEST3_score=0.282;CADD_raw=4.028;CADD_phred=23.6;DANN_score=0.932;fathmm-MKL_coding_score=0.978;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.534;MetaSVM_pred=T;MetaLR_score=0.147;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=4.99;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.963;phastCons20way_mammalian=0.983;SiPhy_29way_logOdds=18.287;GDI_full_10282015=.;dpsi_max_tissue=-0.0044;dpsi_zscore=-0.001;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0137;gnomAD_exome_AFR=0.0029;gnomAD_exome_AMR=0.0063;gnomAD_exome_ASJ=0.0123;gnomAD_exome_EAS=5.802e-05;gnomAD_exome_FIN=0.0250;gnomAD_exome_NFE=0.0203;gnomAD_exome_OTH=0.0123;gnomAD_exome_SAS=0.0034;gnomAD_genome_ALL=0.0139;gnomAD_genome_AFR=0.0036;gnomAD_genome_AMR=0.0084;gnomAD_genome_ASJ=0.0132;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0267;gnomAD_genome_NFE=0.0186;gnomAD_genome_OTH=0.0163;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-10 GT:DP:CLCAD2 1:130:0,59 . . . 1:114:0,59 . . . . . . 1:172:0,83 . . . . . 1:182:0,66 . . . . . . . . . . . . . . . . . . . . . . . . 2 179395760 47694;rs3829749 G A 200.00 . #_unique_end_positions=,57;#_unique_start_positions=,43;AC=6;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1331;AF_ESP_clinvar_20171029_hg19=,0.0502;AF_EXAC_clinvar_20171029_hg19=,0.04429;AF_TGP_clinvar_20171029_hg19=,0.0913;ALLELEID_clinvar_20171029_hg19=,56858;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0403;AN=6;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.15;CAF_dbsnp_common_v150_hg19_refseq=,0.9087|0.09125;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1837342|OMIM:608807|Orphanet:ORPHA140922|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1858763|OMIM:604145|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy|_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179395760G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:70167;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.100659C>T|_NM_001267550.2:c.105582C>T|_NM_003319.4:c.78387C>T|_NM_133378.4:c.97878C>T|_NM_133432.3:c.78762C>T|_NM_133437.4:c.78963C>T;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.105582C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1726;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0318;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,67;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273|TTN-AS1:100506866;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:100506866|GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:44124|HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN-AS1|TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6048|gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179395760;RS_dbsnp_common_v150_hg19_refseq=,3829749;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,79;Read_coverage=,155;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.8990861046770967;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,88;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0481;SF=0,5,15,35,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.929425|0.0705749;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050328080305150537000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.0918367;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0132743;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.195122;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.164706;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.0284091;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.209302;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.168605;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.138889;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.04;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.0979021;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.0568182;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.110619;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.93;db_xref=,GeneID:100506866|HGNC:HGNC:44124|GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN_antisense_RNA_1|titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN-AS1|TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lncRNA|protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon186:c.C78387T:p.S26129S,TTN:NM_133432:exon187:c.C78762T:p.S26254S,TTN:NM_133437:exon187:c.C78963T:p.S26321S,TTN:NM_133378:exon307:c.C97878T:p.S32626S,TTN:NM_001256850:exon308:c.C100659T:p.S33553S,TTN:NM_001267550:exon358:c.C105582T:p.S35194S;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0502;esp6500siv2_ea=0.0205;esp6500siv2_all=0.0502;esp6500siv2_ea=0.0205;1000g2015aug_all=0.091254;avsnp147=rs3829749;Kaviar_AF=0.0424445;Kaviar_AC=6562;Kaviar_AN=154602;ExAC_ALL=0.0443;ExAC_AFR=0.1238;ExAC_AMR=0.0311;ExAC_EAS=0.1658;ExAC_FIN=0.0027;ExAC_NFE=0.0215;ExAC_OTH=0.0467;ExAC_SAS=0.0515;CLNALLELEID=56858;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0129;dpsi_zscore=-0.057;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0430;gnomAD_exome_AFR=0.1238;gnomAD_exome_AMR=0.0337;gnomAD_exome_ASJ=0.0413;gnomAD_exome_EAS=0.1754;gnomAD_exome_FIN=0.0034;gnomAD_exome_NFE=0.0206;gnomAD_exome_OTH=0.0392;gnomAD_exome_SAS=0.0501;gnomAD_genome_ALL=0.0560;gnomAD_genome_AFR=0.1287;gnomAD_genome_AMR=0.0382;gnomAD_genome_ASJ=0.0464;gnomAD_genome_EAS=0.1578;gnomAD_genome_FIN=0.0011;gnomAD_genome_NFE=0.0189;gnomAD_genome_OTH=0.0224;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 1:140:0,70 . . . . 1:150:0,70 . . . . . . . . . 1:166:0,81 . . . . . . . . . . . . . . . . . . . 1:163:0,78 . . . . 1:188:0,96 1:165:0,65 2 179395958 47689;rs3813250 T C 200.00 . #_unique_end_positions=,58;#_unique_start_positions=,43;AC=21;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5681;AF_ESP_clinvar_20171029_hg19=,0.3194;AF_EXAC_clinvar_20171029_hg19=,0.35180;ALLELEID_clinvar_20171029_hg19=,56853;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4049;AN=21;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.4918|0.5082;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179395958T>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:26744;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.100461A>G|_NM_001267550.2:c.105384A>G|_NM_003319.4:c.78189A>G|_NM_133378.4:c.97680A>G|_NM_133432.3:c.78564A>G|_NM_133437.4:c.78765A>G;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.105384A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7123;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2535;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,100;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273|TTN-AS1:100506866;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:100506866|GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:44124|HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN-AS1|TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6048|gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179395958;RS_dbsnp_common_v150_hg19_refseq=,3813250;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,91;Read_coverage=,163;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9954569388018495;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,63;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5521;SF=0,1,5,10,12,14,15,16,17,19,20,27,28,29,35,36,37,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.587781|0.412219;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05032808030517053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.530612;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.199115;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.682927;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.658824;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.5;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.627907;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.656977;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.55;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.35;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.395105;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.255682;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.615044;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.502;db_xref=,GeneID:100506866|HGNC:HGNC:44124|GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN_antisense_RNA_1|titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN-AS1|TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lncRNA|protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon186:c.A78189G:p.A26063A,TTN:NM_133432:exon187:c.A78564G:p.A26188A,TTN:NM_133437:exon187:c.A78765G:p.A26255A,TTN:NM_133378:exon307:c.A97680G:p.A32560A,TTN:NM_001256850:exon308:c.A100461G:p.A33487A,TTN:NM_001267550:exon358:c.A105384G:p.A35128A;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.3194;esp6500siv2_ea=0.2231;esp6500siv2_all=0.3194;esp6500siv2_ea=0.2231;1000g2015aug_all=0.508187;avsnp147=rs3813250;Kaviar_AF=0.333728;Kaviar_AC=51595;Kaviar_AN=154602;ExAC_ALL=0.3518;ExAC_AFR=0.5440;ExAC_AMR=0.4305;ExAC_EAS=0.6951;ExAC_FIN=0.2768;ExAC_NFE=0.2314;ExAC_OTH=0.3322;ExAC_SAS=0.5213;CLNALLELEID=56853;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0235;dpsi_zscore=-0.126;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3519;gnomAD_exome_AFR=0.5450;gnomAD_exome_AMR=0.4287;gnomAD_exome_ASJ=0.2814;gnomAD_exome_EAS=0.7014;gnomAD_exome_FIN=0.2786;gnomAD_exome_NFE=0.2261;gnomAD_exome_OTH=0.3099;gnomAD_exome_SAS=0.5148;gnomAD_genome_ALL=0.3530;gnomAD_genome_AFR=0.5385;gnomAD_genome_AMR=0.4117;gnomAD_genome_ASJ=0.2450;gnomAD_genome_EAS=0.6928;gnomAD_genome_FIN=0.2688;gnomAD_genome_NFE=0.2310;gnomAD_genome_OTH=0.3037;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 1:152:0,81 1:162:0,67 . . . 1:105:0,55 . . . . 1:194:0,96 . 1:163:0,77 . 1:221:0,116 1:183:0,95 1:185:0,78 1:146:0,69 . 1/1:152:0,152 1:131:0,64 . . . . . . 1:178:0,79 1:209:0,103 1:188:0,102 . . . . . 1/1:137:0,137 1:126:0,54 1:119:0,68 . . 1:143:0,70 1:138:0,57 2 179396114 47687;rs55938627 C T 200.00 . #_unique_end_positions=,54;#_unique_start_positions=,47;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0053;AF_ESP_clinvar_20171029_hg19=,0.0016;AF_EXAC_clinvar_20171029_hg19=,0.00098;AF_TGP_clinvar_20171029_hg19=,0.0014;ALLELEID_clinvar_20171029_hg19=,56851;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.2;CAF_dbsnp_common_v150_hg19_refseq=,0.9986|.|0.001398;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1837342|OMIM:608807|Orphanet:ORPHA140922|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1858763|OMIM:604145|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy|_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive|not_provided;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179396114C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_conflicting_interpretations;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:163478;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.100305G>A|_NM_001267550.2:c.105228G>A|_NM_003319.4:c.78033G>A|_NM_133378.4:c.97524G>A|_NM_133432.3:c.78408G>A|_NM_133437.4:c.78609G>A;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.105228G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,77;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273|TTN-AS1:100506866;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:100506866|GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:44124|HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN-AS1|TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6048|gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179396114;RS_dbsnp_common_v150_hg19_refseq=,55938627;Read_count=,105;Read_coverage=,185;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9982150898290248;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,108;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=16;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.999451|.|0.000549488;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050368080305040436100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.239;db_xref=,GeneID:100506866|HGNC:HGNC:44124|GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN_antisense_RNA_1|titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN-AS1|TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lncRNA|protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon186:c.G78033A:p.S26011S,TTN:NM_133432:exon187:c.G78408A:p.S26136S,TTN:NM_133437:exon187:c.G78609A:p.S26203S,TTN:NM_133378:exon307:c.G97524A:p.S32508S,TTN:NM_001256850:exon308:c.G100305A:p.S33435S,TTN:NM_001267550:exon358:c.G105228A:p.S35076S;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0016;esp6500siv2_ea=0.0023;esp6500siv2_all=0.0016;esp6500siv2_ea=0.0023;1000g2015aug_all=0.00139776;avsnp147=rs55938627;Kaviar_AF=0.0009638;Kaviar_AC=149;Kaviar_AN=154602;ExAC_ALL=0.0010;ExAC_AFR=0.0008;ExAC_AMR=0.0007;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0014;ExAC_OTH=0.0044;ExAC_SAS=0.0004;CLNALLELEID=56851;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0150;dpsi_zscore=-0.072;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0012;gnomAD_exome_AFR=0.0005;gnomAD_exome_AMR=0.0013;gnomAD_exome_ASJ=0.0123;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0008;gnomAD_exome_OTH=0.0026;gnomAD_exome_SAS=0.0004;gnomAD_genome_ALL=0.0007;gnomAD_genome_AFR=0.0003;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0.0166;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0007;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . 1:171:0,99 . . . . . . . . . . . . . . . . . . . . . . . . . 2 179396162 47684;rs56308529 C G 200.00 . #_unique_end_positions=,45;#_unique_start_positions=,45;AC=5;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0333;AF_EXAC_clinvar_20171029_hg19=,0.03781;AF_TGP_clinvar_20171029_hg19=,0.0230;ALLELEID_clinvar_20171029_hg19=,56848;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0793;AN=5;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_597681.4:p.Glu26187Asp|_NP_001254479.2:p.Glu35060Asp|_NP_001243779.1:p.Glu33419Asp|_NP_003310.4:p.Glu25995Asp|_NP_597676.3:p.Glu26120Asp|_NP_596869.4:p.Glu32492Asp;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Glu35060Asp;BaseQRankSum=,-0.05;CAF_dbsnp_common_v150_hg19_refseq=,0.977|0.02296;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1837342|OMIM:608807|Orphanet:ORPHA140922|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1858763|OMIM:604145|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy|_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179396162C>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:26803;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.100257G>C|_NM_001267550.2:c.105180G>C|_NM_003319.4:c.77985G>C|_NM_133378.4:c.97476G>C|_NM_133432.3:c.78360G>C|_NM_133437.4:c.78561G>C;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.105180G>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0467;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,57;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273|TTN-AS1:100506866;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:100506866|GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,C/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:44124|HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN-AS1|TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6048|gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179396162;RS_dbsnp_common_v150_hg19_refseq=,56308529;Read_count=,85;Read_coverage=,182;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9829718798182847;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,125;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0133;SF=1,14,19,29;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.960849|0.039151;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050328080a05150436000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.999;db_xref=,GeneID:100506866|HGNC:HGNC:44124|GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN_antisense_RNA_1|titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN-AS1|TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lncRNA|protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon186:c.G77985C:p.E25995D,TTN:NM_133432:exon187:c.G78360C:p.E26120D,TTN:NM_133437:exon187:c.G78561C:p.E26187D,TTN:NM_133378:exon307:c.G97476C:p.E32492D,TTN:NM_001256850:exon308:c.G100257C:p.E33419D,TTN:NM_001267550:exon358:c.G105180C:p.E35060D;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0333;esp6500siv2_ea=0.0436;esp6500siv2_all=0.0333;esp6500siv2_ea=0.0436;1000g2015aug_all=0.0229633;avsnp147=rs56308529;Kaviar_AF=0.0384989;Kaviar_AC=5952;Kaviar_AN=154602;ExAC_ALL=0.0378;ExAC_AFR=0.0083;ExAC_AMR=0.0954;ExAC_EAS=0;ExAC_FIN=0.0240;ExAC_NFE=0.0418;ExAC_OTH=0.03;ExAC_SAS=0.0247;CLNALLELEID=56848;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.258;SIFT_pred=T;Polyphen2_HDIV_score=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.018;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.725;MutationTaster_pred=D;MutationAssessor_score=0.895;MutationAssessor_pred=L;FATHMM_score=0.26;FATHMM_pred=T;PROVEAN_score=-1.42;PROVEAN_pred=N;VEST3_score=0.192;CADD_raw=2.686;CADD_phred=20.7;DANN_score=0.732;fathmm-MKL_coding_score=0.746;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.945;MetaSVM_pred=T;MetaLR_score=0.031;MetaLR_pred=T;integrated_fitCons_score=0.563;integrated_confidence_value=0;GERP++_RS=3.67;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.071;phastCons7way_vertebrate=0.995;phastCons20way_mammalian=0.908;SiPhy_29way_logOdds=8.136;GDI_full_10282015=.;dpsi_max_tissue=0.0005;dpsi_zscore=0.015;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0408;gnomAD_exome_AFR=0.0076;gnomAD_exome_AMR=0.0917;gnomAD_exome_ASJ=0.0397;gnomAD_exome_EAS=5.801e-05;gnomAD_exome_FIN=0.0248;gnomAD_exome_NFE=0.0438;gnomAD_exome_OTH=0.0404;gnomAD_exome_SAS=0.0253;gnomAD_genome_ALL=0.0328;gnomAD_genome_AFR=0.0096;gnomAD_genome_AMR=0.0873;gnomAD_genome_ASJ=0.0265;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0235;gnomAD_genome_NFE=0.0486;gnomAD_genome_OTH=0.0407;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 . 1:162:0,74 . . . . . . . . . . . . 1:258:0,113 . . . . 1/1:168:0,167 . . . . . . . . . 1:240:0,132 . . . . . . . . . . . . 2 179396354 47681;rs3829748 G A 200.00 . #_unique_end_positions=,61;#_unique_start_positions=,50;AC=12;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1483;AF_ESP_clinvar_20171029_hg19=,0.1420;AF_EXAC_clinvar_20171029_hg19=,0.18245;AF_TGP_clinvar_20171029_hg19=,0.2318;ALLELEID_clinvar_20171029_hg19=,56845;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1571;AN=12;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.4;CAF_dbsnp_common_v150_hg19_refseq=,0.7682|0.2318|.;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179396354G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:26812;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.100065C>T|_NM_001267550.2:c.104988C>T|_NM_003319.4:c.77793C>T|_NM_133378.4:c.97284C>T|_NM_133432.3:c.78168C>T|_NM_133437.4:c.78369C>T;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.104988C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4504;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1392;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,103;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273|TTN-AS1:100506866;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:100506866|GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:44124|HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN-AS1|TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6048|gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179396354;RS_dbsnp_common_v150_hg19_refseq=,3829748;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,88;Read_coverage=,177;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.78155350396923;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,74;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2679;SF=1,10,14,16,19,20,27,28,29,35,36;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.824851|0.175149|.;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05032808030515053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.112245;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.115044;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.402439;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.376471;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.267045;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.313953;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.436047;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.0833333;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.08;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.0944056;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.136364;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.172566;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.963;db_xref=,GeneID:100506866|HGNC:HGNC:44124|GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN_antisense_RNA_1|titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN-AS1|TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lncRNA|protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon186:c.C77793T:p.V25931V,TTN:NM_133432:exon187:c.C78168T:p.V26056V,TTN:NM_133437:exon187:c.C78369T:p.V26123V,TTN:NM_133378:exon307:c.C97284T:p.V32428V,TTN:NM_001256850:exon308:c.C100065T:p.V33355V,TTN:NM_001267550:exon358:c.C104988T:p.V34996V;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.1420;esp6500siv2_ea=0.1451;esp6500siv2_all=0.1420;esp6500siv2_ea=0.1451;1000g2015aug_all=0.231829;avsnp147=rs3829748;Kaviar_AF=0.177579;Kaviar_AC=27454;Kaviar_AN=154602;ExAC_ALL=0.1824;ExAC_AFR=0.1412;ExAC_AMR=0.1531;ExAC_EAS=0.4341;ExAC_FIN=0.1478;ExAC_NFE=0.1468;ExAC_OTH=0.1756;ExAC_SAS=0.2551;CLNALLELEID=56845;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0049;dpsi_zscore=-0.004;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1813;gnomAD_exome_AFR=0.1430;gnomAD_exome_AMR=0.1493;gnomAD_exome_ASJ=0.1872;gnomAD_exome_EAS=0.4299;gnomAD_exome_FIN=0.1517;gnomAD_exome_NFE=0.1444;gnomAD_exome_OTH=0.1644;gnomAD_exome_SAS=0.2523;gnomAD_genome_ALL=0.1661;gnomAD_genome_AFR=0.1427;gnomAD_genome_AMR=0.1671;gnomAD_genome_ASJ=0.1325;gnomAD_genome_EAS=0.4426;gnomAD_genome_FIN=0.1461;gnomAD_genome_NFE=0.1547;gnomAD_genome_OTH=0.1769;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 . 1:165:0,84 . . . . . . . . 1:225:0,104 . . . 1:280:0,114 . 1:168:0,81 . . 1/1:158:0,158 1:181:0,94 . . . . . . 1:229:0,92 1:228:0,116 1:235:0,132 . . . . . 1:194:0,87 1:164:0,70 . . . . . 2 179396573 47677;rs56375087 T G 200.00 . #_unique_end_positions=,57;#_unique_start_positions=,49;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0048;AF_EXAC_clinvar_20171029_hg19=,0.01002;AF_TGP_clinvar_20171029_hg19=,0.0038;ALLELEID_clinvar_20171029_hg19=,56841;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0043;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.18;CAF_dbsnp_common_v150_hg19_refseq=,0.9962|0.003794;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1837342|OMIM:608807|Orphanet:ORPHA140922|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1858763|OMIM:604145|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy|_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179396573T>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:125581;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.99846A>C|_NM_001267550.2:c.104769A>C|_NM_003319.4:c.77574A>C|_NM_133378.4:c.97065A>C|_NM_133432.3:c.77949A>C|_NM_133437.4:c.78150A>C;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.104769A>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0159;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,89;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273|TTN-AS1:100506866;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:100506866|GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,G/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:44124|HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN-AS1|TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6048|gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179396573;RS_dbsnp_common_v150_hg19_refseq=,56375087;Read_count=,87;Read_coverage=,166;Read_direction_test_probability=,0.9823890456926405;Read_position_test_probability=,0.9776105743991697;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,77;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=2;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.996806|0.0031939;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050228080305040436000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.973;db_xref=,GeneID:100506866|HGNC:HGNC:44124|GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN_antisense_RNA_1|titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN-AS1|TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lncRNA|protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon186:c.A77574C:p.T25858T,TTN:NM_133432:exon187:c.A77949C:p.T25983T,TTN:NM_133437:exon187:c.A78150C:p.T26050T,TTN:NM_133378:exon307:c.A97065C:p.T32355T,TTN:NM_001256850:exon308:c.A99846C:p.T33282T,TTN:NM_001267550:exon358:c.A104769C:p.T34923T;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0048;esp6500siv2_ea=0.0068;esp6500siv2_all=0.0048;esp6500siv2_ea=0.0068;1000g2015aug_all=0.00379393;avsnp147=rs56375087;Kaviar_AF=0.0086998;Kaviar_AC=1345;Kaviar_AN=154602;ExAC_ALL=0.0100;ExAC_AFR=0.0013;ExAC_AMR=0.0013;ExAC_EAS=0;ExAC_FIN=0.0776;ExAC_NFE=0.0095;ExAC_OTH=0.0205;ExAC_SAS=0.0004;CLNALLELEID=56841;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0019;dpsi_zscore=0.012;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0107;gnomAD_exome_AFR=0.0010;gnomAD_exome_AMR=0.0013;gnomAD_exome_ASJ=0.0008;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0700;gnomAD_exome_NFE=0.0083;gnomAD_exome_OTH=0.0108;gnomAD_exome_SAS=0.0006;gnomAD_genome_ALL=0.0166;gnomAD_genome_AFR=0.0007;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0673;gnomAD_genome_NFE=0.0159;gnomAD_genome_OTH=0.0326;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-4 GT:DP:CLCAD2 . . 1:156:0,81 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2 179396766 47675;rs68080670 C T 200.00 . #_unique_end_positions=,62;#_unique_start_positions=,49;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0106;AF_EXAC_clinvar_20171029_hg19=,0.01295;AF_TGP_clinvar_20171029_hg19=,0.0036;ALLELEID_clinvar_20171029_hg19=,56839;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0043;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001243779.1:p.Arg33218Gln|_NP_597676.3:p.Arg25919Gln|_NP_596869.4:p.Arg32291Gln|_NP_597681.4:p.Arg25986Gln|_NP_001254479.2:p.Arg34859Gln|_NP_003310.4:p.Arg25794Gln;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Arg34859Gln;BaseQRankSum=,-0.33;CAF_dbsnp_common_v150_hg19_refseq=,0.9964|0.003594;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1837342|OMIM:608807|Orphanet:ORPHA140922|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1858763|OMIM:604145|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy|_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179396766C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:90438;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.99653G>A|_NM_001267550.2:c.104576G>A|_NM_003319.4:c.77381G>A|_NM_133378.4:c.96872G>A|_NM_133432.3:c.77756G>A|_NM_133437.4:c.77957G>A;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.104576G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0129;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,68;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273|TTN-AS1:100506866;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:100506866|GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:44124|HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN-AS1|TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6048|gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179396766;RS_dbsnp_common_v150_hg19_refseq=,68080670;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,87;Read_coverage=,154;Read_direction_test_probability=,0.9988295269646889;Read_position_test_probability=,0.978542720535535;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,86;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0020;SF=41;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.992479|0.00752112;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050028080a0504043e000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.953;db_xref=,GeneID:100506866|HGNC:HGNC:44124|GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN_antisense_RNA_1|titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN-AS1|TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lncRNA|protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon186:c.G77381A:p.R25794Q,TTN:NM_133432:exon187:c.G77756A:p.R25919Q,TTN:NM_133437:exon187:c.G77957A:p.R25986Q,TTN:NM_133378:exon307:c.G96872A:p.R32291Q,TTN:NM_001256850:exon308:c.G99653A:p.R33218Q,TTN:NM_001267550:exon358:c.G104576A:p.R34859Q;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0106;esp6500siv2_ea=0.0145;esp6500siv2_all=0.0106;esp6500siv2_ea=0.0145;1000g2015aug_all=0.00359425;avsnp147=rs68080670;Kaviar_AF=0.012212;Kaviar_AC=1888;Kaviar_AN=154602;ExAC_ALL=0.0130;ExAC_AFR=0.0015;ExAC_AMR=0.0025;ExAC_EAS=0;ExAC_FIN=0.0441;ExAC_NFE=0.0176;ExAC_OTH=0.0100;ExAC_SAS=0.0025;CLNALLELEID=56839;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=0.993;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.47;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_pred=.;MutationTaster_score=0.998;MutationTaster_pred=D;MutationAssessor_score=0.695;MutationAssessor_pred=N;FATHMM_score=0.02;FATHMM_pred=T;PROVEAN_score=-2.28;PROVEAN_pred=N;VEST3_score=0.255;CADD_raw=3.918;CADD_phred=23.5;DANN_score=0.862;fathmm-MKL_coding_score=0.904;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.699;MetaSVM_pred=T;MetaLR_score=0.152;MetaLR_pred=T;integrated_fitCons_score=0.490;integrated_confidence_value=0;GERP++_RS=5.55;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.830;phastCons20way_mammalian=0.463;SiPhy_29way_logOdds=13.76;GDI_full_10282015=.;dpsi_max_tissue=0.0002;dpsi_zscore=0.015;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0127;gnomAD_exome_AFR=0.0017;gnomAD_exome_AMR=0.0033;gnomAD_exome_ASJ=0.0019;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0418;gnomAD_exome_NFE=0.0171;gnomAD_exome_OTH=0.0110;gnomAD_exome_SAS=0.0023;gnomAD_genome_ALL=0.0171;gnomAD_genome_AFR=0.0024;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0435;gnomAD_genome_NFE=0.0221;gnomAD_genome_OTH=0.0204;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:144:0,82 2 179397561 47663;rs3829747 C T 196.32 . #_unique_end_positions=,42;#_unique_start_positions=,31;AC=12;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0666;AF_ESP_clinvar_20171029_hg19=,0.1214;AF_EXAC_clinvar_20171029_hg19=,0.17535;AF_TGP_clinvar_20171029_hg19=,0.2087;ALLELEID_clinvar_20171029_hg19=,56827;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1484;AN=12;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_597676.3:p.Arg25654His|_NP_596869.4:p.Arg32026His|_NP_001243779.1:p.Arg32953His|_NP_001254479.2:p.Arg34594His|_NP_597681.4:p.Arg25721His|_NP_003310.4:p.Arg25529His;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Arg34594His;BaseQRankSum=,0.07;CAF_dbsnp_common_v150_hg19_refseq=,0.7913|0.2087;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179397561C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:26843;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.98858G>A|_NM_001267550.2:c.103781G>A|_NM_003319.4:c.76586G>A|_NM_133378.4:c.96077G>A|_NM_133432.3:c.76961G>A|_NM_133437.4:c.77162G>A;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.103781G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4484;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1392;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,82;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273|TTN-AS1:100506866;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:100506866|GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:44124|HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN-AS1|TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6048|gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179397561;RS_dbsnp_common_v150_hg19_refseq=,3829747;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,56;Read_coverage=,139;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.8899266138372619;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,57;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2679;SF=1,10,14,16,19,20,27,28,29,35,36;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.856687|0.143313;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128080a0515053f000101;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.0816327;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.115044;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.402439;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.376471;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.267045;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.313953;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.436047;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.0333333;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.06;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.0244755;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.136364;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0884956;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:100506866|HGNC:HGNC:44124|GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN_antisense_RNA_1|titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN-AS1|TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lncRNA|protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon186:c.G76586A:p.R25529H,TTN:NM_133432:exon187:c.G76961A:p.R25654H,TTN:NM_133437:exon187:c.G77162A:p.R25721H,TTN:NM_133378:exon307:c.G96077A:p.R32026H,TTN:NM_001256850:exon308:c.G98858A:p.R32953H,TTN:NM_001267550:exon358:c.G103781A:p.R34594H;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.1214;esp6500siv2_ea=0.1442;esp6500siv2_all=0.1214;esp6500siv2_ea=0.1442;1000g2015aug_all=0.208666;avsnp147=rs3829747;Kaviar_AF=0.170761;Kaviar_AC=26400;Kaviar_AN=154602;ExAC_ALL=0.1753;ExAC_AFR=0.0674;ExAC_AMR=0.1492;ExAC_EAS=0.4339;ExAC_FIN=0.1476;ExAC_NFE=0.1455;ExAC_OTH=0.17;ExAC_SAS=0.2551;CLNALLELEID=56827;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.996;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=0.55;MutationAssessor_pred=N;FATHMM_score=0.02;FATHMM_pred=T;PROVEAN_score=-3.63;PROVEAN_pred=D;VEST3_score=0.297;CADD_raw=4.497;CADD_phred=24.3;DANN_score=0.949;fathmm-MKL_coding_score=0.956;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.963;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.421;integrated_confidence_value=0;GERP++_RS=5.81;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=0.999;SiPhy_29way_logOdds=19.674;GDI_full_10282015=.;dpsi_max_tissue=-0.0004;dpsi_zscore=0.015;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1754;gnomAD_exome_AFR=0.0701;gnomAD_exome_AMR=0.1459;gnomAD_exome_ASJ=0.1690;gnomAD_exome_EAS=0.4298;gnomAD_exome_FIN=0.1523;gnomAD_exome_NFE=0.1441;gnomAD_exome_OTH=0.1591;gnomAD_exome_SAS=0.2526;gnomAD_genome_ALL=0.1458;gnomAD_genome_AFR=0.0740;gnomAD_genome_AMR=0.1623;gnomAD_genome_ASJ=0.1159;gnomAD_genome_EAS=0.4395;gnomAD_genome_FIN=0.1468;gnomAD_genome_NFE=0.1542;gnomAD_genome_OTH=0.1663;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 . 1:124:0,50 . . . . . . . . 1:179:0,94 . . . 1:203:0,98 . 1:185:0,79 . . 1/1:109:0,108 1:182:0,74 . . . . . . 1:241:0,113 1:184:0,88 1:200:0,106 . . . . . 1:143:0,82 1:140:0,66 . . . . . 2 179398509 47655;rs3731752 C A 200.00 . #_unique_end_positions=,36;#_unique_start_positions=,32;AC=6;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0847;AF_ESP_clinvar_20171029_hg19=,0.0339;AF_EXAC_clinvar_20171029_hg19=,0.03919;AF_TGP_clinvar_20171029_hg19=,0.0781;ALLELEID_clinvar_20171029_hg19=,56819;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0403;AN=6;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_597676.3:p.Gly25338Val|_NP_597681.4:p.Gly25405Val|_NP_596869.4:p.Gly31710Val|_NP_003310.4:p.Gly25213Val|_NP_001243779.1:p.Gly32637Val|_NP_001254479.2:p.Gly34278Val;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Gly34278Val;BaseQRankSum=,0.13;CAF_dbsnp_common_v150_hg19_refseq=,0.9219|0.07808;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1837342|OMIM:608807|Orphanet:ORPHA140922|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1858763|OMIM:604145|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy|_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179398509C>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:70193;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.97910G>T|_NM_001267550.2:c.102833G>T|_NM_003319.4:c.75638G>T|_NM_133378.4:c.95129G>T|_NM_133432.3:c.76013G>T|_NM_133437.4:c.76214G>T;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.102833G>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1716;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0318;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,64;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273|TTN-AS1:100506866;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:100506866|GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,A/C;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:44124|HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN-AS1|TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6048|gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179398509;RS_dbsnp_common_v150_hg19_refseq=,3731752;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,46;Read_coverage=,121;Read_direction_test_probability=,0.9329011986759408;Read_position_test_probability=,0.9749514138867253;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,57;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0470;SF=0,5,15,35,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.952332|0.0476681;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050328080a05150537000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.0510204;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0132743;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.195122;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.164706;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.0284091;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.209302;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.164706;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.0777778;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.04;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.0704225;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.0517241;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0575221;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:100506866|HGNC:HGNC:44124|GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN_antisense_RNA_1|titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN-AS1|TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lncRNA|protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon186:c.G75638T:p.G25213V,TTN:NM_133432:exon187:c.G76013T:p.G25338V,TTN:NM_133437:exon187:c.G76214T:p.G25405V,TTN:NM_133378:exon307:c.G95129T:p.G31710V,TTN:NM_001256850:exon308:c.G97910T:p.G32637V,TTN:NM_001267550:exon358:c.G102833T:p.G34278V;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0339;esp6500siv2_ea=0.0198;esp6500siv2_all=0.0339;esp6500siv2_ea=0.0198;1000g2015aug_all=0.0780751;avsnp147=rs3731752;Kaviar_AF=0.0379491;Kaviar_AC=5867;Kaviar_AN=154602;ExAC_ALL=0.0392;ExAC_AFR=0.0706;ExAC_AMR=0.0292;ExAC_EAS=0.1651;ExAC_FIN=0.0027;ExAC_NFE=0.0212;ExAC_OTH=0.0422;ExAC_SAS=0.0489;CLNALLELEID=56819;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.075;SIFT_pred=T;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.98;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=-0.695;MutationAssessor_pred=N;FATHMM_score=-0.23;FATHMM_pred=T;PROVEAN_score=-5.45;PROVEAN_pred=D;VEST3_score=0.638;CADD_raw=3.098;CADD_phred=22.5;DANN_score=0.902;fathmm-MKL_coding_score=0.986;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.868;MetaSVM_pred=T;MetaLR_score=0.001;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.6;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.892;phastCons7way_vertebrate=0.997;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=13.852;GDI_full_10282015=.;dpsi_max_tissue=-0.0012;dpsi_zscore=0.014;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0387;gnomAD_exome_AFR=0.0703;gnomAD_exome_AMR=0.0312;gnomAD_exome_ASJ=0.0412;gnomAD_exome_EAS=0.1750;gnomAD_exome_FIN=0.0033;gnomAD_exome_NFE=0.0202;gnomAD_exome_OTH=0.0360;gnomAD_exome_SAS=0.0478;gnomAD_genome_ALL=0.0397;gnomAD_genome_AFR=0.0727;gnomAD_genome_AMR=0.0371;gnomAD_genome_ASJ=0.0464;gnomAD_genome_EAS=0.1583;gnomAD_genome_FIN=0.0011;gnomAD_genome_NFE=0.0185;gnomAD_genome_OTH=0.0153;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 1:114:0,43 . . . . 1:106:0,50 . . . . . . . . . 1:136:0,62 . . . . . . . . . . . . . . . . . . . 1:144:0,70 . . . . 1:141:0,73 1:111:0,59 2 179398823 47650;rs2857265 G A 200.00 . #_unique_end_positions=,39;#_unique_start_positions=,39;AC=12;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1483;AF_ESP_clinvar_20171029_hg19=,0.1449;AF_EXAC_clinvar_20171029_hg19=,0.18234;AF_TGP_clinvar_20171029_hg19=,0.2320;ALLELEID_clinvar_20171029_hg19=,56814;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1571;AN=12;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.24;CAF_dbsnp_common_v150_hg19_refseq=,0.768|0.232;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179398823G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:26853;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.97596C>T|_NM_001267550.2:c.102519C>T|_NM_003319.4:c.75324C>T|_NM_133378.4:c.94815C>T|_NM_133432.3:c.75699C>T|_NM_133437.4:c.75900C>T;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.102519C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4514;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1392;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,63;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273|TTN-AS1:100506866;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:100506866|GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:44124|HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN-AS1|TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6048|gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179398823;RS_dbsnp_common_v150_hg19_refseq=,2857265;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,52;Read_coverage=,117;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9742656711055881;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,54;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2679;SF=1,10,14,16,19,20,27,28,29,35,36;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.826224|0.173776;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05032808030517053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.112245;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.115044;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.402439;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.376471;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.267045;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.313953;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.436047;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.0833333;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.08;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.0944056;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.136364;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.172566;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.833;db_xref=,GeneID:100506866|HGNC:HGNC:44124|GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN_antisense_RNA_1|titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN-AS1|TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lncRNA|protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon186:c.C75324T:p.G25108G,TTN:NM_133432:exon187:c.C75699T:p.G25233G,TTN:NM_133437:exon187:c.C75900T:p.G25300G,TTN:NM_133378:exon307:c.C94815T:p.G31605G,TTN:NM_001256850:exon308:c.C97596T:p.G32532G,TTN:NM_001267550:exon358:c.C102519T:p.G34173G;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.1449;esp6500siv2_ea=0.1465;esp6500siv2_all=0.1449;esp6500siv2_ea=0.1465;1000g2015aug_all=0.232029;avsnp147=rs2857265;Kaviar_AF=0.17743;Kaviar_AC=27431;Kaviar_AN=154602;ExAC_ALL=0.1823;ExAC_AFR=0.1409;ExAC_AMR=0.1525;ExAC_EAS=0.4329;ExAC_FIN=0.1477;ExAC_NFE=0.1468;ExAC_OTH=0.1767;ExAC_SAS=0.2548;CLNALLELEID=56814;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0044;dpsi_zscore=-0.001;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1815;gnomAD_exome_AFR=0.1427;gnomAD_exome_AMR=0.1492;gnomAD_exome_ASJ=0.1873;gnomAD_exome_EAS=0.4299;gnomAD_exome_FIN=0.1519;gnomAD_exome_NFE=0.1447;gnomAD_exome_OTH=0.1645;gnomAD_exome_SAS=0.2523;gnomAD_genome_ALL=0.1656;gnomAD_genome_AFR=0.1418;gnomAD_genome_AMR=0.1659;gnomAD_genome_ASJ=0.1325;gnomAD_genome_EAS=0.4395;gnomAD_genome_FIN=0.1467;gnomAD_genome_NFE=0.1549;gnomAD_genome_OTH=0.1755;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 . 1:113:0,51 . . . . . . . . 1:127:0,64 . . . 1:171:0,74 . 1:106:0,46 . . 1/1:92:0,92 1:139:0,68 . . . . . . 1:147:0,76 1:117:0,56 1:131:0,54 . . . . . 1:98:0,47 1:120:0,56 . . . . . 2 179399576 47641;rs55886356 C G 200.00 . #_unique_end_positions=,36;#_unique_start_positions=,30;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0078;AF_EXAC_clinvar_20171029_hg19=,0.00682;AF_TGP_clinvar_20171029_hg19=,0.0046;ALLELEID_clinvar_20171029_hg19=,56805;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0115;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_596869.4:p.Gln31354His|_NP_597676.3:p.Gln24982His|_NP_597681.4:p.Gln25049His|_NP_001243779.1:p.Gln32281His|_NP_003310.4:p.Gln24857His|_NP_001254479.2:p.Gln33922His;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Gln33922His;BaseQRankSum=,-0.89;CAF_dbsnp_common_v150_hg19_refseq=,0.9954|0.004593;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1837342|OMIM:608807|Orphanet:ORPHA140922|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1858763|OMIM:604145|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy|_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179399576C>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_conflicting_interpretations;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:63553;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.96843G>C|_NM_001267550.2:c.101766G>C|_NM_003319.4:c.74571G>C|_NM_133378.4:c.94062G>C|_NM_133432.3:c.74946G>C|_NM_133437.4:c.75147G>C;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.101766G>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0149;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,45;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273|TTN-AS1:100506866;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:100506866|GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,C/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:44124|HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN-AS1|TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6048|gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179399576;RS_dbsnp_common_v150_hg19_refseq=,55886356;Read_count=,39;Read_coverage=,90;Read_direction_test_probability=,0.9698870975609323;Read_position_test_probability=,0.9648018248063853;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,45;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=6;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.993681|0.00631912;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050328080a05040436000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:100506866|HGNC:HGNC:44124|GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN_antisense_RNA_1|titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN-AS1|TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lncRNA|protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon186:c.G74571C:p.Q24857H,TTN:NM_133432:exon187:c.G74946C:p.Q24982H,TTN:NM_133437:exon187:c.G75147C:p.Q25049H,TTN:NM_133378:exon307:c.G94062C:p.Q31354H,TTN:NM_001256850:exon308:c.G96843C:p.Q32281H,TTN:NM_001267550:exon358:c.G101766C:p.Q33922H;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0078;esp6500siv2_ea=0.0104;esp6500siv2_all=0.0078;esp6500siv2_ea=0.0104;1000g2015aug_all=0.00459265;avsnp147=rs55886356;Kaviar_AF=0.0070568;Kaviar_AC=1091;Kaviar_AN=154602;ExAC_ALL=0.0068;ExAC_AFR=0.0021;ExAC_AMR=0.0083;ExAC_EAS=0;ExAC_FIN=0.0011;ExAC_NFE=0.0099;ExAC_OTH=0.0068;ExAC_SAS=0.0020;CLNALLELEID=56805;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.951;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=2.825;MutationAssessor_pred=M;FATHMM_score=0.51;FATHMM_pred=T;PROVEAN_score=-3.69;PROVEAN_pred=D;VEST3_score=0.427;CADD_raw=1.720;CADD_phred=14.52;DANN_score=0.865;fathmm-MKL_coding_score=0.918;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.481;MetaSVM_pred=T;MetaLR_score=0.265;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=3.99;phyloP7way_vertebrate=-0.048;phyloP20way_mammalian=0.077;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=0.988;SiPhy_29way_logOdds=8.901;GDI_full_10282015=.;dpsi_max_tissue=0.0015;dpsi_zscore=0.017;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM1516197#"Cardiomyopathy_dilated";gnomAD_exome_ALL=0.0072;gnomAD_exome_AFR=0.0021;gnomAD_exome_AMR=0.0101;gnomAD_exome_ASJ=0.0014;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0010;gnomAD_exome_NFE=0.0110;gnomAD_exome_OTH=0.0107;gnomAD_exome_SAS=0.0018;gnomAD_genome_ALL=0.0056;gnomAD_genome_AFR=0.0011;gnomAD_genome_AMR=0.0107;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0099;gnomAD_genome_OTH=0.0041;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:DP:CLCAD2 . . . . . . 1:88:0,38 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2 179399677 47639;rs34924609 C T 200.00 . #_unique_end_positions=,31;#_unique_start_positions=,23;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0050;AF_EXAC_clinvar_20171029_hg19=,0.00331;AF_TGP_clinvar_20171029_hg19=,0.0012;ALLELEID_clinvar_20171029_hg19=,56803;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_597676.3:p.Val24949Ile|_NP_001243779.1:p.Val32248Ile|_NP_596869.4:p.Val31321Ile|_NP_001254479.2:p.Val33889Ile|_NP_003310.4:p.Val24824Ile|_NP_597681.4:p.Val25016Ile;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Val33889Ile;BaseQRankSum=,-0.11;CAF_dbsnp_common_v150_hg19_refseq=,0.9988|0.001198;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1837342|OMIM:608807|Orphanet:ORPHA140922|MedGen:C1858763|OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNDN_clinvar_20171029_hg19=,Limb-girdle_muscular_dystrophy|_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179399677C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_conflicting_interpretations;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.96742G>A|_NM_001267550.2:c.101665G>A|_NM_003319.4:c.74470G>A|_NM_133378.4:c.93961G>A|_NM_133432.3:c.74845G>A|_NM_133437.4:c.75046G>A;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.101665G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0060;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,50;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273|TTN-AS1:100506866;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:100506866|GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:44124|HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN-AS1|TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6048|gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179399677;RS_dbsnp_common_v150_hg19_refseq=,34924609;Read_count=,34;Read_coverage=,84;Read_direction_test_probability=,0.78234403507917;Read_position_test_probability=,0.9030131442239874;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,34;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=7;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.99684|0.00315956;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050328080a05040536000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:100506866|HGNC:HGNC:44124|GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN_antisense_RNA_1|titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN-AS1|TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lncRNA|protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon186:c.G74470A:p.V24824I,TTN:NM_133432:exon187:c.G74845A:p.V24949I,TTN:NM_133437:exon187:c.G75046A:p.V25016I,TTN:NM_133378:exon307:c.G93961A:p.V31321I,TTN:NM_001256850:exon308:c.G96742A:p.V32248I,TTN:NM_001267550:exon358:c.G101665A:p.V33889I;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0050;esp6500siv2_ea=0.0065;esp6500siv2_all=0.0050;esp6500siv2_ea=0.0065;1000g2015aug_all=0.00119808;avsnp147=rs34924609;Kaviar_AF=0.0037322;Kaviar_AC=577;Kaviar_AN=154602;ExAC_ALL=0.0033;ExAC_AFR=0.0009;ExAC_AMR=0.0008;ExAC_EAS=0;ExAC_FIN=0.0011;ExAC_NFE=0.0055;ExAC_OTH=0.0011;ExAC_SAS=0.0003;CLNALLELEID=56803;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=0.009;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.01;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.998;MutationTaster_pred=D;MutationAssessor_score=1.425;MutationAssessor_pred=L;FATHMM_score=0.99;FATHMM_pred=T;PROVEAN_score=-0.73;PROVEAN_pred=N;VEST3_score=0.115;CADD_raw=2.339;CADD_phred=18.42;DANN_score=0.811;fathmm-MKL_coding_score=0.895;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.030;MetaSVM_pred=T;MetaLR_score=0.074;MetaLR_pred=T;integrated_fitCons_score=0.563;integrated_confidence_value=0;GERP++_RS=4.95;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.996;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=11.705;GDI_full_10282015=.;dpsi_max_tissue=0.0043;dpsi_zscore=0.030;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0031;gnomAD_exome_AFR=0.0014;gnomAD_exome_AMR=0.0007;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0010;gnomAD_exome_NFE=0.0062;gnomAD_exome_OTH=0.0015;gnomAD_exome_SAS=0.0003;gnomAD_genome_ALL=0.0031;gnomAD_genome_AFR=0.0011;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0014;gnomAD_genome_NFE=0.0052;gnomAD_genome_OTH=0.0031;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-4 GT:DP:CLCAD2 . . . . . . . 1:79:0,34 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2 179400895 47629;rs2278196 C T 200.00 . #_unique_end_positions=,35;#_unique_start_positions=,32;AC=5;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0847;AF_ESP_clinvar_20171029_hg19=,0.0324;AF_EXAC_clinvar_20171029_hg19=,0.03121;AF_TGP_clinvar_20171029_hg19=,0.0655;ALLELEID_clinvar_20171029_hg19=,56793;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0360;AN=5;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_597676.3:p.Val24587Ile|_NP_001254479.2:p.Val33527Ile|_NP_596869.4:p.Val30959Ile|_NP_597681.4:p.Val24654Ile|_NP_003310.4:p.Val24462Ile|_NP_001243779.1:p.Val31886Ile;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Val33527Ile;BaseQRankSum=,0.17;CAF_dbsnp_common_v150_hg19_refseq=,0.9345|0.0655;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1837342|OMIM:608807|Orphanet:ORPHA140922|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1858763|OMIM:604145|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy|_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179400895C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:70217;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.95656G>A|_NM_001267550.2:c.100579G>A|_NM_003319.4:c.73384G>A|_NM_133378.4:c.92875G>A|_NM_133432.3:c.73759G>A|_NM_133437.4:c.73960G>A;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.100579G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1488;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0298;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,52;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273|TTN-AS1:100506866;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:100506866|GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:44124|HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN-AS1|TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6048|gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179400895;RS_dbsnp_common_v150_hg19_refseq=,2278196;Read_count=,48;Read_coverage=,100;Read_direction_test_probability=,0.9983125708000974;Read_position_test_probability=,0.9571955478823154;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,48;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0112;SF=0,5,15,35,40;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.955011|0.0449894;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050328080a05150537000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.0510204;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0133929;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.182927;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.141176;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.104651;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.151163;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.0730337;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.0408163;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.0699301;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.0568182;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0580357;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.998;db_xref=,GeneID:100506866|HGNC:HGNC:44124|GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN_antisense_RNA_1|titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN-AS1|TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lncRNA|protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon185:c.G73384A:p.V24462I,TTN:NM_133432:exon186:c.G73759A:p.V24587I,TTN:NM_133437:exon186:c.G73960A:p.V24654I,TTN:NM_133378:exon306:c.G92875A:p.V30959I,TTN:NM_001256850:exon307:c.G95656A:p.V31886I,TTN:NM_001267550:exon357:c.G100579A:p.V33527I;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0324;esp6500siv2_ea=0.0174;esp6500siv2_all=0.0324;esp6500siv2_ea=0.0174;1000g2015aug_all=0.0654952;avsnp147=rs2278196;Kaviar_AF=0.0303554;Kaviar_AC=4693;Kaviar_AN=154602;ExAC_ALL=0.0312;ExAC_AFR=0.0714;ExAC_AMR=0.0280;ExAC_EAS=0.1467;ExAC_FIN=0.0021;ExAC_NFE=0.0182;ExAC_OTH=0.0337;ExAC_SAS=0.0138;CLNALLELEID=56793;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.306;SIFT_pred=T;Polyphen2_HDIV_score=0.774;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.079;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.001;MutationTaster_pred=P;MutationAssessor_score=0.175;MutationAssessor_pred=N;FATHMM_score=-0.64;FATHMM_pred=T;PROVEAN_score=-0.37;PROVEAN_pred=N;VEST3_score=0.194;CADD_raw=3.526;CADD_phred=23.1;DANN_score=0.868;fathmm-MKL_coding_score=0.962;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.982;MetaSVM_pred=T;MetaLR_score=0.001;MetaLR_pred=T;integrated_fitCons_score=0.730;integrated_confidence_value=0;GERP++_RS=5.76;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.995;phastCons20way_mammalian=0.998;SiPhy_29way_logOdds=19.959;GDI_full_10282015=.;dpsi_max_tissue=-0.0336;dpsi_zscore=-0.185;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0312;gnomAD_exome_AFR=0.0701;gnomAD_exome_AMR=0.0300;gnomAD_exome_ASJ=0.0254;gnomAD_exome_EAS=0.1551;gnomAD_exome_FIN=0.0032;gnomAD_exome_NFE=0.0179;gnomAD_exome_OTH=0.0313;gnomAD_exome_SAS=0.0140;gnomAD_genome_ALL=0.0377;gnomAD_genome_AFR=0.0721;gnomAD_genome_AMR=0.0370;gnomAD_genome_ASJ=0.0364;gnomAD_genome_EAS=0.1393;gnomAD_genome_FIN=0.0009;gnomAD_genome_NFE=0.0169;gnomAD_genome_OTH=0.0163;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 1:91:0,44 . . . . 1:73:0,29 . . . . . . . . . 1:84:0,40 . . . . . . . . . . . . . . . . . . . 1:86:0,40 . . . . 1:95:0,40 . 2 179401078 rs371908649 G A 200.00 . #_unique_end_positions=,37;#_unique_start_positions=,30;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AN=1;Amino_acid_change=,NP_597676.3:p.Arg24526Cys|_NP_001243779.1:p.Arg31825Cys|_NP_596869.4:p.Arg30898Cys|_NP_001254479.2:p.Arg33466Cys|_NP_597681.4:p.Arg24593Cys|_NP_003310.4:p.Arg24401Cys;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Arg33466Cys;BaseQRankSum=,0.18;Coding_region_change=,NM_001256850.1:c.95473C>T|_NM_001267550.2:c.100396C>T|_NM_003319.4:c.73201C>T|_NM_133378.4:c.92692C>T|_NM_133432.3:c.73576C>T|_NM_133437.4:c.73777C>T;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.100396C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;Exact_match=,1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,54;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:100506866|GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:44124|HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN-AS1|TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6048|gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;Read_count=,53;Read_coverage=,108;Read_direction_test_probability=,0.6665008414821323;Read_position_test_probability=,0.9701511757617272;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,54;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=20;conservation_score=,1.0;db_xref=,GeneID:100506866|HGNC:HGNC:44124|GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN_antisense_RNA_1|titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN-AS1|TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lncRNA|protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon185:c.C73201T:p.R24401C,TTN:NM_133432:exon186:c.C73576T:p.R24526C,TTN:NM_133437:exon186:c.C73777T:p.R24593C,TTN:NM_133378:exon306:c.C92692T:p.R30898C,TTN:NM_001256850:exon307:c.C95473T:p.R31825C,TTN:NM_001267550:exon357:c.C100396T:p.R33466C;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=8.4e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=8.4e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=0.000199681;avsnp147=rs371908649;Kaviar_AF=9.7e-05;Kaviar_AC=15;Kaviar_AN=154602;ExAC_ALL=0.0001;ExAC_AFR=0.0001;ExAC_AMR=0;ExAC_EAS=0.0012;ExAC_FIN=0;ExAC_NFE=0;ExAC_OTH=0;ExAC_SAS=0.0002;CLNALLELEID=449384;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=3.84;MutationAssessor_pred=H;FATHMM_score=0.15;FATHMM_pred=T;PROVEAN_score=-6.11;PROVEAN_pred=D;VEST3_score=0.608;CADD_raw=4.313;CADD_phred=24.0;DANN_score=0.956;fathmm-MKL_coding_score=0.990;fathmm-MKL_coding_pred=D;MetaSVM_score=0.344;MetaSVM_pred=D;MetaLR_score=0.556;MetaLR_pred=D;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.76;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=19.959;GDI_full_10282015=.;dpsi_max_tissue=-0.0423;dpsi_zscore=-0.229;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0001;gnomAD_exome_AFR=6.548e-05;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0.0016;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0.0002;gnomAD_genome_ALL=0.0001;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0.0019;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.666e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=5 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . 1:104:0,53 . . . . . . . . . . . . . . . . . . . . . 2 179401742 47624;rs55742743 C T 200.00 . #_unique_end_positions=,30;#_unique_start_positions=,23;AC=3;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0160;AF_EXAC_clinvar_20171029_hg19=,0.01277;AF_TGP_clinvar_20171029_hg19=,0.0048;ALLELEID_clinvar_20171029_hg19=,56788;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0043;AN=3;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_003310.4:p.Arg24300Gln|_NP_597681.4:p.Arg24492Gln|_NP_597676.3:p.Arg24425Gln|_NP_001243779.1:p.Arg31724Gln|_NP_596869.4:p.Arg30797Gln|_NP_001254479.2:p.Arg33365Gln;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Arg33365Gln;BaseQRankSum=,-0.36;CAF_dbsnp_common_v150_hg19_refseq=,0.9952|0.004792;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1837342|OMIM:608807|Orphanet:ORPHA140922|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1858763|OMIM:604145|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy|_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179401742C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:53950;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.95171G>A|_NM_001267550.2:c.100094G>A|_NM_003319.4:c.72899G>A|_NM_133378.4:c.92390G>A|_NM_133432.3:c.73274G>A|_NM_133437.4:c.73475G>A;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.100094G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0179;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,74;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273|TTN-AS1:100506866;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:100506866|GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:44124|HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN-AS1|TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6048|gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179401742;RS_dbsnp_common_v150_hg19_refseq=,55742743;Read_count=,48;Read_coverage=,91;Read_direction_test_probability=,0.9976362468711202;Read_position_test_probability=,0.4254484961300089;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,17;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0031;SF=14,19,29;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.98743|0.0125695;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050228080a05040436000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:100506866|HGNC:HGNC:44124|GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN_antisense_RNA_1|titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN-AS1|TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lncRNA|protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon184:c.G72899A:p.R24300Q,TTN:NM_133432:exon185:c.G73274A:p.R24425Q,TTN:NM_133437:exon185:c.G73475A:p.R24492Q,TTN:NM_133378:exon305:c.G92390A:p.R30797Q,TTN:NM_001256850:exon306:c.G95171A:p.R31724Q,TTN:NM_001267550:exon356:c.G100094A:p.R33365Q;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0160;esp6500siv2_ea=0.0210;esp6500siv2_all=0.0160;esp6500siv2_ea=0.0210;1000g2015aug_all=0.00479233;avsnp147=rs55742743;Kaviar_AF=0.0129235;Kaviar_AC=1998;Kaviar_AN=154602;ExAC_ALL=0.0128;ExAC_AFR=0.0039;ExAC_AMR=0.0060;ExAC_EAS=0;ExAC_FIN=0.0022;ExAC_NFE=0.0193;ExAC_OTH=0.0118;ExAC_SAS=0.0070;CLNALLELEID=56788;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.03;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.998;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.935;MutationAssessor_pred=M;FATHMM_score=0.24;FATHMM_pred=T;PROVEAN_score=-3.07;PROVEAN_pred=D;VEST3_score=0.512;CADD_raw=4.269;CADD_phred=23.9;DANN_score=0.975;fathmm-MKL_coding_score=0.984;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.120;MetaSVM_pred=T;MetaLR_score=0.316;MetaLR_pred=T;integrated_fitCons_score=0.563;integrated_confidence_value=0;GERP++_RS=5.55;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.995;phastCons20way_mammalian=0.997;SiPhy_29way_logOdds=19.497;GDI_full_10282015=.;dpsi_max_tissue=-0.1572;dpsi_zscore=-0.597;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0124;gnomAD_exome_AFR=0.0032;gnomAD_exome_AMR=0.0059;gnomAD_exome_ASJ=0.0222;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0.0025;gnomAD_exome_NFE=0.0201;gnomAD_exome_OTH=0.0124;gnomAD_exome_SAS=0.0067;gnomAD_genome_ALL=0.0121;gnomAD_genome_AFR=0.0045;gnomAD_genome_AMR=0.0119;gnomAD_genome_ASJ=0.0166;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0037;gnomAD_genome_NFE=0.0199;gnomAD_genome_OTH=0.0081;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 . . . . . . . . . . . . . . 1:87:0,45 . . . . 1:58:0,32 . . . . . . . . . 1:74:0,37 . . . . . . . . . . . . 2 179403750 47610;rs4894028 C T 200.00 . #_unique_end_positions=,62;#_unique_start_positions=,48;AC=3;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0113;AF_ESP_clinvar_20171029_hg19=,0.0244;AF_EXAC_clinvar_20171029_hg19=,0.06803;AF_TGP_clinvar_20171029_hg19=,0.0769;ALLELEID_clinvar_20171029_hg19=,56774;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1484;AN=3;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001243779.1:p.Arg31330His|_NP_597681.4:p.Arg24098His|_NP_001254479.2:p.Arg32971His|_NP_597676.3:p.Arg24031His|_NP_003310.4:p.Arg23906His|_NP_596869.4:p.Arg30403His;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Arg32971His;BaseQRankSum=,-0.13;CAF_dbsnp_common_v150_hg19_refseq=,0.9231|.|0.07688;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179403750C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:26784;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.93989G>A|_NM_001267550.2:c.98912G>A|_NM_003319.4:c.71717G>A|_NM_133378.4:c.91208G>A|_NM_133432.3:c.72092G>A|_NM_133437.4:c.72293G>A;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.98912G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0248;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0477;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU;Forward_read_coverage=,60;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273|TTN-AS1:100506866;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:100506866|GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:100506866|GeneID:7273;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:44124|HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:44124|HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN-AS1|TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NR_038272.1|NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6048|gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8980|rna8982|rna8983|rna8984|rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6048|gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179403750;RS_dbsnp_common_v150_hg19_refseq=,4894028;Read_count=,86;Read_coverage=,149;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.986777219462926;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NR_038272.1|NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,89;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1984;SF=12,17,37;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.967786|.|0.0322138;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050168080a05150537100100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0517241;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.998;db_xref=,GeneID:100506866|HGNC:HGNC:44124|GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NR_038272.1|Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN_antisense_RNA_1|titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,ncRNA|mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN-AS1|TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN-AS1|TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lncRNA|protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN_antisense_RNA_1|_transcript_variant_1|titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NR_038272.1|NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,lnc_RNA|mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon181:c.G71717A:p.R23906H,TTN:NM_133432:exon182:c.G72092A:p.R24031H,TTN:NM_133437:exon182:c.G72293A:p.R24098H,TTN:NM_133378:exon302:c.G91208A:p.R30403H,TTN:NM_001256850:exon303:c.G93989A:p.R31330H,TTN:NM_001267550:exon353:c.G98912A:p.R32971H;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0244;esp6500siv2_ea=0.0287;esp6500siv2_all=0.0244;esp6500siv2_ea=0.0287;1000g2015aug_all=0.076877;avsnp147=rs4894028;Kaviar_AF=0.0646175;Kaviar_AC=9990;Kaviar_AN=154602;ExAC_ALL=0.0680;ExAC_AFR=0.0135;ExAC_AMR=0.1953;ExAC_EAS=0.0257;ExAC_FIN=0.0591;ExAC_NFE=0.0324;ExAC_OTH=0.0689;ExAC_SAS=0.1813;CLNALLELEID=56774;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.003;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=4.29;MutationAssessor_pred=H;FATHMM_score=0.15;FATHMM_pred=T;PROVEAN_score=-3.71;PROVEAN_pred=D;VEST3_score=0.399;CADD_raw=4.332;CADD_phred=24.0;DANN_score=0.966;fathmm-MKL_coding_score=0.956;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.475;MetaSVM_pred=T;MetaLR_score=0.024;MetaLR_pred=T;integrated_fitCons_score=0.651;integrated_confidence_value=0;GERP++_RS=6.06;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.993;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=20.621;GDI_full_10282015=.;dpsi_max_tissue=-0.0434;dpsi_zscore=-0.235;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0744;gnomAD_exome_AFR=0.0118;gnomAD_exome_AMR=0.1945;gnomAD_exome_ASJ=0.0305;gnomAD_exome_EAS=0.0275;gnomAD_exome_FIN=0.0579;gnomAD_exome_NFE=0.0323;gnomAD_exome_OTH=0.0626;gnomAD_exome_SAS=0.1808;gnomAD_genome_ALL=0.0316;gnomAD_genome_AFR=0.0133;gnomAD_genome_AMR=0.1663;gnomAD_genome_ASJ=0.0265;gnomAD_genome_EAS=0.0281;gnomAD_genome_FIN=0.0530;gnomAD_genome_NFE=0.0284;gnomAD_genome_OTH=0.0591;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 . . . . . . . . . . . . 1:140:0,83 . . . . 1:135:0,66 . . . . . . . . . . . . . . . . . . . 1:107:0,51 . . . . 2 179404402 47600;rs149001703 T C 200.00 . #_unique_end_positions=,50;#_unique_start_positions=,45;AC=2;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0058;AF_EXAC_clinvar_20171029_hg19=,0.00436;AF_TGP_clinvar_20171029_hg19=,0.0040;ALLELEID_clinvar_20171029_hg19=,56764;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0101;AN=2;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_596869.4:p.Asn30229Ser|_NP_001254479.2:p.Asn32797Ser|_NP_597681.4:p.Asn23924Ser|_NP_001243779.1:p.Asn31156Ser|_NP_597676.3:p.Asn23857Ser|_NP_003310.4:p.Asn23732Ser;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Asn32797Ser;BaseQRankSum=,0.28;CAF_dbsnp_common_v150_hg19_refseq=,0.996|0.003994;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1837342|OMIM:608807|Orphanet:ORPHA140922|MedGen:C1858763|OMIM:604145|MedGen:CN169374|MedGen:CN517202;CLNDN_clinvar_20171029_hg19=,Limb-girdle_muscular_dystrophy|_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179404402T>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.93467A>G|_NM_001267550.2:c.98390A>G|_NM_003319.4:c.71195A>G|_NM_133378.4:c.90686A>G|_NM_133432.3:c.71570A>G|_NM_133437.4:c.71771A>G;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.98390A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0129;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,79;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273|TTN-AS1:100506866;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:100506866|GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:100506866|GeneID:7273;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:44124|HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:44124|HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN-AS1|TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NR_038272.1|NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6048|gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8980|rna8982|rna8983|rna8984|rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6048|gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179404402;RS_dbsnp_common_v150_hg19_refseq=,149001703;Read_count=,89;Read_coverage=,173;Read_direction_test_probability=,0.9811317821110568;Read_position_test_probability=,0.8118109790681307;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NR_038272.1|NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,94;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=10,35;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.996394|0.00360602;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050068080a05040436100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.986;db_xref=,GeneID:100506866|HGNC:HGNC:44124|GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NR_038272.1|Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN_antisense_RNA_1|titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,ncRNA|mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN-AS1|TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN-AS1|TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lncRNA|protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN_antisense_RNA_1|_transcript_variant_1|titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NR_038272.1|NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,lnc_RNA|mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon180:c.A71195G:p.N23732S,TTN:NM_133432:exon181:c.A71570G:p.N23857S,TTN:NM_133437:exon181:c.A71771G:p.N23924S,TTN:NM_133378:exon301:c.A90686G:p.N30229S,TTN:NM_001256850:exon302:c.A93467G:p.N31156S,TTN:NM_001267550:exon352:c.A98390G:p.N32797S;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0058;esp6500siv2_ea=0.0081;esp6500siv2_all=0.0058;esp6500siv2_ea=0.0081;1000g2015aug_all=0.00399361;avsnp147=rs149001703;Kaviar_AF=0.0047412;Kaviar_AC=733;Kaviar_AN=154602;ExAC_ALL=0.0044;ExAC_AFR=0.0006;ExAC_AMR=0.0042;ExAC_EAS=0;ExAC_FIN=0.0009;ExAC_NFE=0.0067;ExAC_OTH=0.0033;ExAC_SAS=0.0009;CLNALLELEID=56764;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.303;SIFT_pred=T;Polyphen2_HDIV_score=0.09;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.13;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.926;MutationTaster_pred=D;MutationAssessor_score=-1.98;MutationAssessor_pred=N;FATHMM_score=1.31;FATHMM_pred=T;PROVEAN_score=-2.23;PROVEAN_pred=N;VEST3_score=0.1;CADD_raw=1.106;CADD_phred=11.25;DANN_score=0.944;fathmm-MKL_coding_score=0.974;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.942;MetaSVM_pred=T;MetaLR_score=0.024;MetaLR_pred=T;integrated_fitCons_score=0.672;integrated_confidence_value=0;GERP++_RS=6.17;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=1.061;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=0.883;SiPhy_29way_logOdds=16.822;GDI_full_10282015=.;dpsi_max_tissue=-0.0013;dpsi_zscore=0.013;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0044;gnomAD_exome_AFR=0.0010;gnomAD_exome_AMR=0.0059;gnomAD_exome_ASJ=0.0016;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0008;gnomAD_exome_NFE=0.0071;gnomAD_exome_OTH=0.0046;gnomAD_exome_SAS=0.0009;gnomAD_genome_ALL=0.0035;gnomAD_genome_AFR=0.0009;gnomAD_genome_AMR=0.0108;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0057;gnomAD_genome_OTH=0.0041;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-4 GT:DP:CLCAD2 . . . . . . . . . . 1:164:0,84 . . . . . . . . . . . . . . . . . . . . . . . . 1:101:0,49 . . . . . . 2 179404628 47595;rs72648270 T A 200.00 . #_unique_end_positions=,39;#_unique_start_positions=,35;AC=5;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0015;AF_ESP_clinvar_20171029_hg19=,0.0128;AF_EXAC_clinvar_20171029_hg19=,0.02511;AF_TGP_clinvar_20171029_hg19=,0.0425;ALLELEID_clinvar_20171029_hg19=,56759;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0288;AN=5;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_003310.4:p.Ile23657Phe|_NP_597681.4:p.Ile23849Phe|_NP_597676.3:p.Ile23782Phe|_NP_001243779.1:p.Ile31081Phe|_NP_001254479.2:p.Ile32722Phe|_NP_596869.4:p.Ile30154Phe;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Ile32722Phe;BaseQRankSum=,0.25;CAF_dbsnp_common_v150_hg19_refseq=,0.9575|0.04253;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1837342|OMIM:608807|Orphanet:ORPHA140922|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1858763|OMIM:604145|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy|_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179404628T>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:70230;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.93241A>T|_NM_001267550.2:c.98164A>T|_NM_003319.4:c.70969A>T|_NM_133378.4:c.90460A>T|_NM_133432.3:c.71344A>T|_NM_133437.4:c.71545A>T;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.98164A>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1488;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0298;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,61;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273|TTN-AS1:100506866;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:100506866|GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,A/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:44124|HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN-AS1|TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6048|gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179404628;RS_dbsnp_common_v150_hg19_refseq=,72648270;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,44;Read_coverage=,120;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.8653066455382525;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,59;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0112;SF=0,5,15,35,40;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.984202|0.0157978;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128080a05150436000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:100506866|HGNC:HGNC:44124|GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN_antisense_RNA_1|titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN-AS1|TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lncRNA|protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon180:c.A70969T:p.I23657F,TTN:NM_133432:exon181:c.A71344T:p.I23782F,TTN:NM_133437:exon181:c.A71545T:p.I23849F,TTN:NM_133378:exon301:c.A90460T:p.I30154F,TTN:NM_001256850:exon302:c.A93241T:p.I31081F,TTN:NM_001267550:exon352:c.A98164T:p.I32722F;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0128;esp6500siv2_ea=0.0170;esp6500siv2_all=0.0128;esp6500siv2_ea=0.0170;1000g2015aug_all=0.0425319;avsnp147=rs72648270;Kaviar_AF=0.0247927;Kaviar_AC=3833;Kaviar_AN=154602;ExAC_ALL=0.0251;ExAC_AFR=0.0034;ExAC_AMR=0.0248;ExAC_EAS=0.1469;ExAC_FIN=0.0021;ExAC_NFE=0.0177;ExAC_OTH=0.03;ExAC_SAS=0.0134;CLNALLELEID=56759;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.204;SIFT_pred=T;Polyphen2_HDIV_score=0.998;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.966;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=1.7;MutationAssessor_pred=L;FATHMM_score=0.93;FATHMM_pred=T;PROVEAN_score=-2.0;PROVEAN_pred=N;VEST3_score=0.535;CADD_raw=2.893;CADD_phred=21.8;DANN_score=0.833;fathmm-MKL_coding_score=0.914;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.191;MetaSVM_pred=T;MetaLR_score=0.002;MetaLR_pred=T;integrated_fitCons_score=0.651;integrated_confidence_value=0;GERP++_RS=6.17;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=1.061;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=16.822;GDI_full_10282015=.;dpsi_max_tissue=-0.0022;dpsi_zscore=0.011;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0263;gnomAD_exome_AFR=0.0037;gnomAD_exome_AMR=0.0263;gnomAD_exome_ASJ=0.0221;gnomAD_exome_EAS=0.1561;gnomAD_exome_FIN=0.0032;gnomAD_exome_NFE=0.0177;gnomAD_exome_OTH=0.0282;gnomAD_exome_SAS=0.0136;gnomAD_genome_ALL=0.0181;gnomAD_genome_AFR=0.0042;gnomAD_genome_AMR=0.0310;gnomAD_genome_ASJ=0.0364;gnomAD_genome_EAS=0.1408;gnomAD_genome_FIN=0.0006;gnomAD_genome_NFE=0.0167;gnomAD_genome_OTH=0.0112;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 1:116:0,44 . . . . 1:96:0,44 . . . . . . . . . 1:87:0,41 . . . . . . . . . . . . . . . . . . . 1:76:0,47 . . . . 1:111:0,48 . 2 179406191 47586;rs3731749 C T 200.00 . #_unique_end_positions=,23;#_unique_start_positions=,20;AC=12;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0666;AF_ESP_clinvar_20171029_hg19=,0.1221;AF_EXAC_clinvar_20171029_hg19=,0.17782;AF_TGP_clinvar_20171029_hg19=,0.2093;ALLELEID_clinvar_20171029_hg19=,56750;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1484;AN=12;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001254479.2:p.Arg32538His|_NP_003310.4:p.Arg23473His|_NP_597681.4:p.Arg23665His|_NP_001243779.1:p.Arg30897His|_NP_596869.4:p.Arg29970His|_NP_597676.3:p.Arg23598His;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Arg32538His;BaseQRankSum=,-0.09;CAF_dbsnp_common_v150_hg19_refseq=,0.7907|0.2093;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179406191C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:26902;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.92690G>A|_NM_001267550.2:c.97613G>A|_NM_003319.4:c.70418G>A|_NM_133378.4:c.89909G>A|_NM_133432.3:c.70793G>A|_NM_133437.4:c.70994G>A;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.97613G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4514;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1382;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,42;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273|TTN-AS1:100506866;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:100506866|GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:44124|HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN-AS1|TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6048|gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179406191;RS_dbsnp_common_v150_hg19_refseq=,3731749;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,39;Read_coverage=,101;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9320609594482808;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,59;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2689;SF=1,10,14,16,19,20,27,28,29,35,36;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.857545|0.142455;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128080a0515053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.0816327;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.115044;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.402439;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.375;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.267045;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.325581;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.436047;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.0333333;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.06;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.0244755;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.136364;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0892857;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:100506866|HGNC:HGNC:44124|GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN_antisense_RNA_1|titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN-AS1|TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lncRNA|protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon178:c.G70418A:p.R23473H,TTN:NM_133432:exon179:c.G70793A:p.R23598H,TTN:NM_133437:exon179:c.G70994A:p.R23665H,TTN:NM_133378:exon299:c.G89909A:p.R29970H,TTN:NM_001256850:exon300:c.G92690A:p.R30897H,TTN:NM_001267550:exon350:c.G97613A:p.R32538H;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.1221;esp6500siv2_ea=0.1453;esp6500siv2_all=0.1221;esp6500siv2_ea=0.1453;1000g2015aug_all=0.209265;avsnp147=rs3731749;Kaviar_AF=0.170593;Kaviar_AC=26374;Kaviar_AN=154602;ExAC_ALL=0.1778;ExAC_AFR=0.0696;ExAC_AMR=0.1523;ExAC_EAS=0.4340;ExAC_FIN=0.1482;ExAC_NFE=0.1472;ExAC_OTH=0.1735;ExAC_SAS=0.2623;CLNALLELEID=56750;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.062;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=2.165;MutationAssessor_pred=M;FATHMM_score=0.42;FATHMM_pred=T;PROVEAN_score=-3.65;PROVEAN_pred=D;VEST3_score=0.427;CADD_raw=5.326;CADD_phred=25.8;DANN_score=0.986;fathmm-MKL_coding_score=0.984;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.035;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.651;integrated_confidence_value=0;GERP++_RS=5.72;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.960;phastCons20way_mammalian=0.997;SiPhy_29way_logOdds=19.871;GDI_full_10282015=.;dpsi_max_tissue=-0.0118;dpsi_zscore=-0.050;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1752;gnomAD_exome_AFR=0.0704;gnomAD_exome_AMR=0.1457;gnomAD_exome_ASJ=0.1692;gnomAD_exome_EAS=0.4293;gnomAD_exome_FIN=0.1514;gnomAD_exome_NFE=0.1439;gnomAD_exome_OTH=0.1600;gnomAD_exome_SAS=0.2528;gnomAD_genome_ALL=0.1455;gnomAD_genome_AFR=0.0741;gnomAD_genome_AMR=0.1623;gnomAD_genome_ASJ=0.1159;gnomAD_genome_EAS=0.4365;gnomAD_genome_FIN=0.1464;gnomAD_genome_NFE=0.1545;gnomAD_genome_OTH=0.1673;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-3 GT:DP:CLCAD2 . 1:84:0,32 . . . . . . . . 1:102:0,52 . . . 1:109:0,57 . 1:99:0,57 . . 1/1:64:0,64 1:103:0,58 . . . . . . 1:92:0,44 1:97:0,36 1:78:0,46 . . . . . 1:88:0,36 1:101:0,52 . . . . . 2 179407663 47573;rs72648266 G A 133.89 . #_unique_end_positions=,25;#_unique_start_positions=,21;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0008;AF_ESP_clinvar_20171029_hg19=,0.0008;AF_EXAC_clinvar_20171029_hg19=,0.00073;AF_TGP_clinvar_20171029_hg19=,0.0012;ALLELEID_clinvar_20171029_hg19=,56737;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0043;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.9988|0.001198;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1837342|OMIM:608807|Orphanet:ORPHA140922|MedGen:C1858763|OMIM:604145|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Limb-girdle_muscular_dystrophy|_type_2J|Dilated_cardiomyopathy_1G|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179407663G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.91995C>T|_NM_001267550.2:c.96918C>T|_NM_003319.4:c.69723C>T|_NM_133378.4:c.89214C>T|_NM_133432.3:c.70098C>T|_NM_133437.4:c.70299C>T;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.96918C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0020;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,35;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273|TTN-AS1:100506866;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:100506866|GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:44124|HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN-AS1|TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6048|gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,133.88741951517486;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179407663;RS_dbsnp_common_v150_hg19_refseq=,72648266;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,34;Read_coverage=,56;Read_direction_test_probability=,0.9994854265559965;Read_position_test_probability=,0.9395981606367233;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,21;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=41;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.999141|0.000858575;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050228080305040036000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.868;db_xref=,GeneID:100506866|HGNC:HGNC:44124|GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN_antisense_RNA_1|titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN-AS1|TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lncRNA|protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon176:c.C69723T:p.I23241I,TTN:NM_133432:exon177:c.C70098T:p.I23366I,TTN:NM_133437:exon177:c.C70299T:p.I23433I,TTN:NM_133378:exon297:c.C89214T:p.I29738I,TTN:NM_001256850:exon298:c.C91995T:p.I30665I,TTN:NM_001267550:exon348:c.C96918T:p.I32306I;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0008;esp6500siv2_ea=0.0012;esp6500siv2_all=0.0008;esp6500siv2_ea=0.0012;1000g2015aug_all=0.00119808;avsnp147=rs72648266;Kaviar_AF=0.0006662;Kaviar_AC=103;Kaviar_AN=154602;ExAC_ALL=0.0007;ExAC_AFR=0.0001;ExAC_AMR=0.0009;ExAC_EAS=0;ExAC_FIN=0.0003;ExAC_NFE=0.0011;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=56737;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0790;dpsi_zscore=-0.382;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0007;gnomAD_exome_AFR=0.0001;gnomAD_exome_AMR=0.0006;gnomAD_exome_ASJ=0.0027;gnomAD_exome_EAS=0;gnomAD_exome_FIN=9.093e-05;gnomAD_exome_NFE=0.0010;gnomAD_exome_OTH=0.0004;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0005;gnomAD_genome_AFR=0.0005;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0008;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-4 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:53:0,32 2 179408713 47566;rs62621236 A G 200.00 . #_unique_end_positions=,52;#_unique_start_positions=,42;AC=3;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1460;AF_ESP_clinvar_20171029_hg19=,0.0714;AF_EXAC_clinvar_20171029_hg19=,0.08082;AF_TGP_clinvar_20171029_hg19=,0.1158;ALLELEID_clinvar_20171029_hg19=,56730;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1643;AN=3;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_003310.4:p.Ile22988Thr|_NP_596869.4:p.Ile29485Thr|_NP_597681.4:p.Ile23180Thr|_NP_597676.3:p.Ile23113Thr|_NP_001254479.2:p.Ile32053Thr|_NP_001243779.1:p.Ile30412Thr;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Ile32053Thr;BaseQRankSum=,0.44;CAF_dbsnp_common_v150_hg19_refseq=,0.8842|0.1158;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179408713A>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:26825;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.91235T>C|_NM_001267550.2:c.96158T>C|_NM_003319.4:c.68963T>C|_NM_133378.4:c.88454T>C|_NM_133432.3:c.69338T>C|_NM_133437.4:c.69539T>C;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.96158T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0258;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0517;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,76;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273|TTN-AS1:100506866;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:100506866|GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:44124|HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN-AS1|TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6048|gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179408713;RS_dbsnp_common_v150_hg19_refseq=,62621236;Read_count=,69;Read_coverage=,144;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.8623421893942049;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,68;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1994;SF=12,17,37;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.907686|0.092314;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128080a05150536000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:100506866|HGNC:HGNC:44124|GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN_antisense_RNA_1|titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN-AS1|TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lncRNA|protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon174:c.T68963C:p.I22988T,TTN:NM_133432:exon175:c.T69338C:p.I23113T,TTN:NM_133437:exon175:c.T69539C:p.I23180T,TTN:NM_133378:exon295:c.T88454C:p.I29485T,TTN:NM_001256850:exon296:c.T91235C:p.I30412T,TTN:NM_001267550:exon346:c.T96158C:p.I32053T;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0714;esp6500siv2_ea=0.0322;esp6500siv2_all=0.0714;esp6500siv2_ea=0.0322;1000g2015aug_all=0.115815;avsnp147=rs62621236;Kaviar_AF=0.0767002;Kaviar_AC=11858;Kaviar_AN=154602;ExAC_ALL=0.0808;ExAC_AFR=0.1452;ExAC_AMR=0.2031;ExAC_EAS=0.0255;ExAC_FIN=0.0590;ExAC_NFE=0.0343;ExAC_OTH=0.0756;ExAC_SAS=0.1830;CLNALLELEID=56730;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.607;SIFT_pred=T;Polyphen2_HDIV_score=0.028;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.034;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.193;MutationTaster_pred=P;MutationAssessor_score=-0.315;MutationAssessor_pred=N;FATHMM_score=-0.18;FATHMM_pred=T;PROVEAN_score=-3.13;PROVEAN_pred=D;VEST3_score=0.337;CADD_raw=2.368;CADD_phred=18.61;DANN_score=0.886;fathmm-MKL_coding_score=0.970;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.074;MetaSVM_pred=T;MetaLR_score=0.001;MetaLR_pred=T;integrated_fitCons_score=0.563;integrated_confidence_value=0;GERP++_RS=5.72;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.199;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=0.997;SiPhy_29way_logOdds=15.996;GDI_full_10282015=.;dpsi_max_tissue=-0.0426;dpsi_zscore=-0.231;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0854;gnomAD_exome_AFR=0.1458;gnomAD_exome_AMR=0.2034;gnomAD_exome_ASJ=0.0306;gnomAD_exome_EAS=0.0274;gnomAD_exome_FIN=0.0579;gnomAD_exome_NFE=0.0347;gnomAD_exome_OTH=0.0700;gnomAD_exome_SAS=0.1827;gnomAD_genome_ALL=0.0692;gnomAD_genome_AFR=0.1423;gnomAD_genome_AMR=0.1766;gnomAD_genome_ASJ=0.0265;gnomAD_genome_EAS=0.0287;gnomAD_genome_FIN=0.0530;gnomAD_genome_NFE=0.0300;gnomAD_genome_OTH=0.0652;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 . . . . . . . . . . . . 1:132:0,64 . . . . 1:117:0,60 . . . . . . . . . . . . . . . . . . . 1:102:0,43 . . . . 2 179410282 47559;rs62621206 A G 200.00 . #_unique_end_positions=,29;#_unique_start_positions=,24;AC=3;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0008;AF_ESP_clinvar_20171029_hg19=,0.0118;AF_EXAC_clinvar_20171029_hg19=,0.01026;AF_TGP_clinvar_20171029_hg19=,0.0056;ALLELEID_clinvar_20171029_hg19=,56723;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0086;AN=3;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001243779.1:p.Leu30211Pro|_NP_003310.4:p.Leu22787Pro|_NP_001254479.2:p.Leu31852Pro|_NP_597681.4:p.Leu22979Pro|_NP_596869.4:p.Leu29284Pro|_NP_597676.3:p.Leu22912Pro;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Leu31852Pro;BaseQRankSum=,0.17;CAF_dbsnp_common_v150_hg19_refseq=,0.9944|.|0.005591|.;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1837342|OMIM:608807|Orphanet:ORPHA140922|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1858763|OMIM:604145|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy|_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179410282A>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_conflicting_interpretations;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:63701;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.90632T>C|_NM_001267550.2:c.95555T>C|_NM_003319.4:c.68360T>C|_NM_133378.4:c.87851T>C|_NM_133432.3:c.68735T>C|_NM_133437.4:c.68936T>C;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.95555T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0199;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,59;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273|TTN-AS1:100506866;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:100506866|GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:44124|HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN-AS1|TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6048|gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;NOV_dbsnp_common_v150_hg19_refseq=,NOV;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179410282;RS_dbsnp_common_v150_hg19_refseq=,62621206;Read_count=,43;Read_coverage=,92;Read_direction_test_probability=,0.9705227703428958;Read_position_test_probability=,0.9160384423644594;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,33;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;SF=23,29,38;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.988323|.|0.0116766|.;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128080a05040436000104;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.994;db_xref=,GeneID:100506866|HGNC:HGNC:44124|GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN_antisense_RNA_1|titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN-AS1|TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lncRNA|protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon172:c.T68360C:p.L22787P,TTN:NM_133432:exon173:c.T68735C:p.L22912P,TTN:NM_133437:exon173:c.T68936C:p.L22979P,TTN:NM_133378:exon293:c.T87851C:p.L29284P,TTN:NM_001256850:exon294:c.T90632C:p.L30211P,TTN:NM_001267550:exon344:c.T95555C:p.L31852P;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0118;esp6500siv2_ea=0.0159;esp6500siv2_all=0.0118;esp6500siv2_ea=0.0159;1000g2015aug_all=0.00559105;avsnp147=rs62621206;Kaviar_AF=0.0104979;Kaviar_AC=1623;Kaviar_AN=154602;ExAC_ALL=0.0103;ExAC_AFR=0.0029;ExAC_AMR=0.0043;ExAC_EAS=0;ExAC_FIN=0.0074;ExAC_NFE=0.0158;ExAC_OTH=0.0156;ExAC_SAS=0.0028;CLNALLELEID=56723;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.166;SIFT_pred=T;Polyphen2_HDIV_score=0.896;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.522;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=1.345;MutationAssessor_pred=L;FATHMM_score=0.47;FATHMM_pred=T;PROVEAN_score=-4.12;PROVEAN_pred=D;VEST3_score=0.517;CADD_raw=2.442;CADD_phred=19.09;DANN_score=0.963;fathmm-MKL_coding_score=0.933;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.931;MetaSVM_pred=T;MetaLR_score=0.090;MetaLR_pred=T;integrated_fitCons_score=0.461;integrated_confidence_value=0;GERP++_RS=4.66;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.199;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=0.999;SiPhy_29way_logOdds=11.993;GDI_full_10282015=.;dpsi_max_tissue=-0.0280;dpsi_zscore=-0.153;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0109;gnomAD_exome_AFR=0.0029;gnomAD_exome_AMR=0.0054;gnomAD_exome_ASJ=0.0088;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0125;gnomAD_exome_NFE=0.0174;gnomAD_exome_OTH=0.0148;gnomAD_exome_SAS=0.0026;gnomAD_genome_ALL=0.0104;gnomAD_genome_AFR=0.0037;gnomAD_genome_AMR=0.0155;gnomAD_genome_ASJ=0.0199;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0097;gnomAD_genome_NFE=0.0150;gnomAD_genome_OTH=0.0112;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . 1:87:0,41 . . . . . 1:91:0,41 . . . . . . . . 1:89:0,38 . . . 2 179410704 47554;rs72648258 G A 200.00 . #_unique_end_positions=,41;#_unique_start_positions=,45;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0079;AF_EXAC_clinvar_20171029_hg19=,0.00731;AF_TGP_clinvar_20171029_hg19=,0.0022;ALLELEID_clinvar_20171029_hg19=,56718;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0014;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.03;CAF_dbsnp_common_v150_hg19_refseq=,0.9978|0.002196;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1837342|OMIM:608807|Orphanet:ORPHA140922|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1858763|OMIM:604145|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy|_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179410704G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_conflicting_interpretations;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:63708;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.90336C>T|_NM_001267550.2:c.95259C>T|_NM_003319.4:c.68064C>T|_NM_133378.4:c.87555C>T|_NM_133432.3:c.68439C>T|_NM_133437.4:c.68640C>T;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.95259C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0099;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,93;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273|TTN-AS1:100506866;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:100506866|GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:44124|HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN-AS1|TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6048|gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179410704;RS_dbsnp_common_v150_hg19_refseq=,72648258;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,81;Read_coverage=,152;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.8756762881750447;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,59;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=33;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.994642|0.00535751;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050028080305040436000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:100506866|HGNC:HGNC:44124|GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN_antisense_RNA_1|titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN-AS1|TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lncRNA|protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon171:c.C68064T:p.L22688L,TTN:NM_133432:exon172:c.C68439T:p.L22813L,TTN:NM_133437:exon172:c.C68640T:p.L22880L,TTN:NM_133378:exon292:c.C87555T:p.L29185L,TTN:NM_001256850:exon293:c.C90336T:p.L30112L,TTN:NM_001267550:exon343:c.C95259T:p.L31753L;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0079;esp6500siv2_ea=0.0108;esp6500siv2_all=0.0079;esp6500siv2_ea=0.0108;1000g2015aug_all=0.00219649;avsnp147=rs72648258;Kaviar_AF=0.0077554;Kaviar_AC=1199;Kaviar_AN=154602;ExAC_ALL=0.0073;ExAC_AFR=0.0012;ExAC_AMR=0.0006;ExAC_EAS=0;ExAC_FIN=0.0041;ExAC_NFE=0.0117;ExAC_OTH=0.0022;ExAC_SAS=0.0030;CLNALLELEID=56718;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.2798;dpsi_zscore=-0.823;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0065;gnomAD_exome_AFR=0.0014;gnomAD_exome_AMR=0.0011;gnomAD_exome_ASJ=0.0017;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0048;gnomAD_exome_NFE=0.0119;gnomAD_exome_OTH=0.0038;gnomAD_exome_SAS=0.0025;gnomAD_genome_ALL=0.0067;gnomAD_genome_AFR=0.0026;gnomAD_genome_AMR=0.0036;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0052;gnomAD_genome_NFE=0.0105;gnomAD_genome_OTH=0.0061;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:142:0,75 . . . . . . . . 2 179412966 47532;rs35445420 G A 200.00 . #_unique_end_positions=,67;#_unique_start_positions=,62;AC=2;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0015;AF_ESP_clinvar_20171029_hg19=,0.0204;AF_EXAC_clinvar_20171029_hg19=,0.02132;AF_TGP_clinvar_20171029_hg19=,0.0090;ALLELEID_clinvar_20171029_hg19=,56696;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0245;AN=2;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.15;CAF_dbsnp_common_v150_hg19_refseq=,0.991|0.008986;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1837342|OMIM:608807|Orphanet:ORPHA140922|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1858763|OMIM:604145|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy|_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179412966G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:85765;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.88464C>T|_NM_001267550.2:c.93387C>T|_NM_003319.4:c.66192C>T|_NM_133378.4:c.85683C>T|_NM_133432.3:c.66567C>T|_NM_133437.4:c.66768C>T;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.93387C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0229;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,75;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273|TTN-AS1:100506866;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:100506866|GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:44124|HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN-AS1|TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6048|gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179412966;RS_dbsnp_common_v150_hg19_refseq=,35445420;Read_count=,115;Read_coverage=,200;Read_direction_test_probability=,0.9965275097981197;Read_position_test_probability=,0.9876410519611741;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,125;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0031;SF=27,36;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.966928|0.0330723;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128080305040536000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.927;db_xref=,GeneID:100506866|HGNC:HGNC:44124|GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN_antisense_RNA_1|titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN-AS1|TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lncRNA|protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon167:c.C66192T:p.S22064S,TTN:NM_133432:exon168:c.C66567T:p.S22189S,TTN:NM_133437:exon168:c.C66768T:p.S22256S,TTN:NM_133378:exon288:c.C85683T:p.S28561S,TTN:NM_001256850:exon289:c.C88464T:p.S29488S,TTN:NM_001267550:exon339:c.C93387T:p.S31129S;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0204;esp6500siv2_ea=0.0284;esp6500siv2_all=0.0204;esp6500siv2_ea=0.0284;1000g2015aug_all=0.00898562;avsnp147=rs35445420;Kaviar_AF=0.0213839;Kaviar_AC=3306;Kaviar_AN=154602;ExAC_ALL=0.0213;ExAC_AFR=0.0034;ExAC_AMR=0.0132;ExAC_EAS=0.0002;ExAC_FIN=0.0278;ExAC_NFE=0.0316;ExAC_OTH=0.0256;ExAC_SAS=0.0043;CLNALLELEID=56696;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0004;dpsi_zscore=0.015;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0200;gnomAD_exome_AFR=0.0036;gnomAD_exome_AMR=0.0122;gnomAD_exome_ASJ=0.0100;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0.0285;gnomAD_exome_NFE=0.0312;gnomAD_exome_OTH=0.0212;gnomAD_exome_SAS=0.0041;gnomAD_genome_ALL=0.0207;gnomAD_genome_AFR=0.0046;gnomAD_genome_AMR=0.0251;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0232;gnomAD_genome_NFE=0.0311;gnomAD_genome_OTH=0.0295;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:185:0,107 . . . . . . . . 1:137:0,71 . . . . . 2 179413110 47530;rs3731748 G A 196.32 . #_unique_end_positions=,59;#_unique_start_positions=,47;AC=12;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1483;AF_ESP_clinvar_20171029_hg19=,0.1437;AF_EXAC_clinvar_20171029_hg19=,0.18404;AF_TGP_clinvar_20171029_hg19=,0.2342;ALLELEID_clinvar_20171029_hg19=,56694;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1571;AN=12;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.23;CAF_dbsnp_common_v150_hg19_refseq=,0.7658|0.2342;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179413110G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:26914;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.88320C>T|_NM_001267550.2:c.93243C>T|_NM_003319.4:c.66048C>T|_NM_133378.4:c.85539C>T|_NM_133432.3:c.66423C>T|_NM_133437.4:c.66624C>T;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.93243C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4514;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1382;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,124;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273|TTN-AS1:100506866;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:100506866|GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:44124|HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN-AS1|TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6048|gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179413110;RS_dbsnp_common_v150_hg19_refseq=,3731748;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,91;Read_coverage=,194;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9103224934163332;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,70;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2802;SF=1,10,14,16,19,20,27,28,29,35,36;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.826087|0.173913;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05012808030517053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.132653;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0932203;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.402439;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.370588;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.272727;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.344444;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.366667;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.0833333;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.08;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.0944056;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.136364;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.216667;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.905;db_xref=,GeneID:100506866|HGNC:HGNC:44124|GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN_antisense_RNA_1|titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN-AS1|TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lncRNA|protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon167:c.C66048T:p.A22016A,TTN:NM_133432:exon168:c.C66423T:p.A22141A,TTN:NM_133437:exon168:c.C66624T:p.A22208A,TTN:NM_133378:exon288:c.C85539T:p.A28513A,TTN:NM_001256850:exon289:c.C88320T:p.A29440A,TTN:NM_001267550:exon339:c.C93243T:p.A31081A;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.1437;esp6500siv2_ea=0.1460;esp6500siv2_all=0.1437;esp6500siv2_ea=0.1460;1000g2015aug_all=0.234225;avsnp147=rs3731748;Kaviar_AF=0.174946;Kaviar_AC=27047;Kaviar_AN=154602;ExAC_ALL=0.1840;ExAC_AFR=0.1414;ExAC_AMR=0.1527;ExAC_EAS=0.4345;ExAC_FIN=0.1479;ExAC_NFE=0.1470;ExAC_OTH=0.1748;ExAC_SAS=0.2658;CLNALLELEID=56694;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0030;dpsi_zscore=0.007;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1829;gnomAD_exome_AFR=0.1429;gnomAD_exome_AMR=0.1494;gnomAD_exome_ASJ=0.1871;gnomAD_exome_EAS=0.4300;gnomAD_exome_FIN=0.1519;gnomAD_exome_NFE=0.1448;gnomAD_exome_OTH=0.1639;gnomAD_exome_SAS=0.2622;gnomAD_genome_ALL=0.1658;gnomAD_genome_AFR=0.1422;gnomAD_genome_AMR=0.1659;gnomAD_genome_ASJ=0.1325;gnomAD_genome_EAS=0.4423;gnomAD_genome_FIN=0.1465;gnomAD_genome_NFE=0.1548;gnomAD_genome_OTH=0.1762;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 . 1:182:0,86 . . . . . . . . 1:216:0,100 . . . 1:256:0,118 . 1:161:0,74 . . 1/1:182:0,182 1:172:0,84 . . . . . . 1:224:0,120 1:219:0,109 1:217:0,103 . . . . . 1:153:0,72 1:130:0,54 . . . . . 2 179413452 47529;rs11694623 G A 200.00 . #_unique_end_positions=,70;#_unique_start_positions=,58;AC=2;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0008;AF_ESP_clinvar_20171029_hg19=,0.0233;AF_EXAC_clinvar_20171029_hg19=,0.01949;AF_TGP_clinvar_20171029_hg19=,0.0122;ALLELEID_clinvar_20171029_hg19=,56693;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0288;AN=2;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.78;CAF_dbsnp_common_v150_hg19_refseq=,0.9878|0.01218;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1837342|OMIM:608807|Orphanet:ORPHA140922|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1858763|OMIM:604145|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy|_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179413452G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_conflicting_interpretations;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:26835;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.87978C>T|_NM_001267550.2:c.92901C>T|_NM_003319.4:c.65706C>T|_NM_133378.4:c.85197C>T|_NM_133432.3:c.66081C>T|_NM_133437.4:c.66282C>T;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.92901C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0278;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,101;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273|TTN-AS1:100506866;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:100506866|GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:44124|HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN-AS1|TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6048|gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179413452;RS_dbsnp_common_v150_hg19_refseq=,11694623;Read_count=,96;Read_coverage=,198;Read_direction_test_probability=,0.9984363012806946;Read_position_test_probability=,0.9981971024134011;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,97;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0123;SF=3,30;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.982451|0.0175493;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05012808030514053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0175439;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.997;db_xref=,GeneID:100506866|HGNC:HGNC:44124|GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN_antisense_RNA_1|titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN-AS1|TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lncRNA|protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon167:c.C65706T:p.S21902S,TTN:NM_133432:exon168:c.C66081T:p.S22027S,TTN:NM_133437:exon168:c.C66282T:p.S22094S,TTN:NM_133378:exon288:c.C85197T:p.S28399S,TTN:NM_001256850:exon289:c.C87978T:p.S29326S,TTN:NM_001267550:exon339:c.C92901T:p.S30967S;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0233;esp6500siv2_ea=0.0315;esp6500siv2_all=0.0233;esp6500siv2_ea=0.0315;1000g2015aug_all=0.0121805;avsnp147=rs11694623;Kaviar_AF=0.0200321;Kaviar_AC=3097;Kaviar_AN=154602;ExAC_ALL=0.0195;ExAC_AFR=0.0053;ExAC_AMR=0.0251;ExAC_EAS=0;ExAC_FIN=0.0045;ExAC_NFE=0.0280;ExAC_OTH=0.0256;ExAC_SAS=0.0053;CLNALLELEID=56693;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0014;dpsi_zscore=0.013;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0194;gnomAD_exome_AFR=0.0047;gnomAD_exome_AMR=0.0221;gnomAD_exome_ASJ=0.0235;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0.0051;gnomAD_exome_NFE=0.0294;gnomAD_exome_OTH=0.0314;gnomAD_exome_SAS=0.0053;gnomAD_genome_ALL=0.0150;gnomAD_genome_AFR=0.0049;gnomAD_genome_AMR=0.0251;gnomAD_genome_ASJ=0.0298;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0049;gnomAD_genome_NFE=0.0241;gnomAD_genome_OTH=0.0133;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:DP:CLCAD2 . . . 1:184:0,90 . . . . . . . . . . . . . . . . . . . . . . . . . . 1:169:0,82 . . . . . . . . . . . 2 179413522 . C T 200.00 . #_unique_end_positions=,59;#_unique_start_positions=,49;AC=1;AN=1;Amino_acid_change=,NP_003310.4:p.Arg21879His|_NP_597681.4:p.Arg22071His|_NP_001243779.1:p.Arg29303His|_NP_597676.3:p.Arg22004His|_NP_596869.4:p.Arg28376His|_NP_001254479.2:p.Arg30944His;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Arg30944His;BaseQRankSum=,-0.98;Coding_region_change=,NM_001256850.1:c.87908G>A|_NM_001267550.2:c.92831G>A|_NM_003319.4:c.65636G>A|_NM_133378.4:c.85127G>A|_NM_133432.3:c.66011G>A|_NM_133437.4:c.66212G>A;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.92831G>A;Forward_read_coverage=,93;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:100506866|GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:44124|HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN-AS1|TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6048|gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;Read_count=,82;Read_coverage=,176;Read_direction_test_probability=,0.9669203020075149;Read_position_test_probability=,0.6244199047249253;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,83;SF=41;conservation_score=,1.0;db_xref=,GeneID:100506866|HGNC:HGNC:44124|GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN_antisense_RNA_1|titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN-AS1|TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lncRNA|protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon167:c.G65636A:p.R21879H,TTN:NM_133432:exon168:c.G66011A:p.R22004H,TTN:NM_133437:exon168:c.G66212A:p.R22071H,TTN:NM_133378:exon288:c.G85127A:p.R28376H,TTN:NM_001256850:exon289:c.G87908A:p.R29303H,TTN:NM_001267550:exon339:c.G92831A:p.R30944H;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs755972883;Kaviar_AF=5.17e-05;Kaviar_AC=8;Kaviar_AN=154602;ExAC_ALL=6.634e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0.0006;ExAC_NFE=6e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=516825;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.106;SIFT_pred=T;Polyphen2_HDIV_score=0.169;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.055;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.970;MutationTaster_pred=D;MutationAssessor_score=2.32;MutationAssessor_pred=M;FATHMM_score=0.97;FATHMM_pred=T;PROVEAN_score=-2.98;PROVEAN_pred=D;VEST3_score=0.242;CADD_raw=3.769;CADD_phred=23.4;DANN_score=0.965;fathmm-MKL_coding_score=0.888;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.799;MetaSVM_pred=T;MetaLR_score=0.150;MetaLR_pred=T;integrated_fitCons_score=0.651;integrated_confidence_value=0;GERP++_RS=4.97;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=-0.329;phastCons7way_vertebrate=0.999;phastCons20way_mammalian=0.981;SiPhy_29way_logOdds=18.601;GDI_full_10282015=.;dpsi_max_tissue=-0.0108;dpsi_zscore=-0.043;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0001;gnomAD_exome_AFR=0;gnomAD_exome_AMR=5.962e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0008;gnomAD_exome_NFE=7.193e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0002;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0011;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:164:0,79 2 179414162 47521;rs16866391 T C 200.00 . #_unique_end_positions=,33;#_unique_start_positions=,25;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0008;AF_ESP_clinvar_20171029_hg19=,0.0020;AF_EXAC_clinvar_20171029_hg19=,0.03134;AF_TGP_clinvar_20171029_hg19=,0.0347;ALLELEID_clinvar_20171029_hg19=,56685;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1614;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001254479.2:p.Ile30731Val|_NP_003310.4:p.Ile21666Val|_NP_597681.4:p.Ile21858Val|_NP_597676.3:p.Ile21791Val|_NP_001243779.1:p.Ile29090Val|_NP_596869.4:p.Ile28163Val;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Ile30731Val;BaseQRankSum=,0.23;CAF_dbsnp_common_v150_hg19_refseq=,0.9653|.|0.03474;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1837342|OMIM:608807|Orphanet:ORPHA140922|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1858763|OMIM:604145|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy|_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179414162T>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:201829;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.87268A>G|_NM_001267550.2:c.92191A>G|_NM_003319.4:c.64996A>G|_NM_133378.4:c.84487A>G|_NM_133432.3:c.65371A>G|_NM_133437.4:c.65572A>G;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.92191A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0565;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-MEX;Forward_read_coverage=,40;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273|TTN-AS1:100506866;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:100506866|GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:44124|HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN-AS1|TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6048|gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179414162;RS_dbsnp_common_v150_hg19_refseq=,16866391;Read_count=,48;Read_coverage=,81;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9971886364357319;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,41;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0041;SF=25;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.98901|.|0.0109898;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050028080a05150537000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.0365854;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.0882353;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.00568182;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0581395;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.151163;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.19;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.614;db_xref=,GeneID:100506866|HGNC:HGNC:44124|GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN_antisense_RNA_1|titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN-AS1|TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lncRNA|protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon167:c.A64996G:p.I21666V,TTN:NM_133432:exon168:c.A65371G:p.I21791V,TTN:NM_133437:exon168:c.A65572G:p.I21858V,TTN:NM_133378:exon288:c.A84487G:p.I28163V,TTN:NM_001256850:exon289:c.A87268G:p.I29090V,TTN:NM_001267550:exon339:c.A92191G:p.I30731V;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0020;esp6500siv2_ea=0.0016;esp6500siv2_all=0.0020;esp6500siv2_ea=0.0016;1000g2015aug_all=0.0347444;avsnp147=rs16866391;Kaviar_AF=0.0281044;Kaviar_AC=4345;Kaviar_AN=154602;ExAC_ALL=0.0313;ExAC_AFR=0.0030;ExAC_AMR=0.2473;ExAC_EAS=0.0716;ExAC_FIN=0.0015;ExAC_NFE=0.0024;ExAC_OTH=0.0123;ExAC_SAS=0.0050;CLNALLELEID=56685;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.992;MutationTaster_pred=N;MutationAssessor_score=-0.105;MutationAssessor_pred=N;FATHMM_score=0.48;FATHMM_pred=T;PROVEAN_score=0.42;PROVEAN_pred=N;VEST3_score=0.062;CADD_raw=-0.886;CADD_phred=0.028;DANN_score=0.617;fathmm-MKL_coding_score=0.086;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.085;MetaSVM_pred=T;MetaLR_score=0.001;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=-0.22;phyloP7way_vertebrate=-0.515;phyloP20way_mammalian=-1.643;phastCons7way_vertebrate=0.969;phastCons20way_mammalian=0.161;SiPhy_29way_logOdds=11.564;GDI_full_10282015=.;dpsi_max_tissue=0.0055;dpsi_zscore=0.038;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0380;gnomAD_exome_AFR=0.0031;gnomAD_exome_AMR=0.2250;gnomAD_exome_ASJ=0.0009;gnomAD_exome_EAS=0.0661;gnomAD_exome_FIN=0.0020;gnomAD_exome_NFE=0.0017;gnomAD_exome_OTH=0.0330;gnomAD_exome_SAS=0.0045;gnomAD_genome_ALL=0.0111;gnomAD_genome_AFR=0.0032;gnomAD_genome_AMR=0.1778;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0.0684;gnomAD_genome_FIN=0.0031;gnomAD_genome_NFE=0.0026;gnomAD_genome_OTH=0.0071;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . 1:78:0,46 . . . . . . . . . . . . . . . . 2 179414318 47519;rs747122 C T 200.00 . #_unique_end_positions=,36;#_unique_start_positions=,36;AC=3;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2731;AF_ESP_clinvar_20171029_hg19=,0.1027;AF_EXAC_clinvar_20171029_hg19=,0.09056;AF_TGP_clinvar_20171029_hg19=,0.1502;ALLELEID_clinvar_20171029_hg19=,56683;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1787;AN=3;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001254479.2:p.Val30711Met|_NP_003310.4:p.Val21646Met|_NP_597676.3:p.Val21771Met|_NP_597681.4:p.Val21838Met|_NP_001243779.1:p.Val29070Met|_NP_596869.4:p.Val28143Met;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Val30711Met;BaseQRankSum=,-0.76;CAF_dbsnp_common_v150_hg19_refseq=,0.8498|.|0.1502;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179414318C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:26867;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.87208G>A|_NM_001267550.2:c.92131G>A|_NM_003319.4:c.64936G>A|_NM_133378.4:c.84427G>A|_NM_133432.3:c.65311G>A|_NM_133437.4:c.65512G>A;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.92131G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0248;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0487;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,67;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273|TTN-AS1:100506866;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:100506866|GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:44124|HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN-AS1|TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6048|gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179414318;RS_dbsnp_common_v150_hg19_refseq=,747122;Read_count=,47;Read_coverage=,108;Read_direction_test_probability=,0.990891859018438;Read_position_test_probability=,0.9995619552639708;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,41;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1973;SF=12,17,37;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.856858|.|0.143142;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128080a0515053f000101;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.285714;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.05;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.0365854;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.0352941;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.181818;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.311111;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.19;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.174825;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.0340909;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.283333;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:100506866|HGNC:HGNC:44124|GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN_antisense_RNA_1|titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN-AS1|TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lncRNA|protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon166:c.G64936A:p.V21646M,TTN:NM_133432:exon167:c.G65311A:p.V21771M,TTN:NM_133437:exon167:c.G65512A:p.V21838M,TTN:NM_133378:exon287:c.G84427A:p.V28143M,TTN:NM_001256850:exon288:c.G87208A:p.V29070M,TTN:NM_001267550:exon338:c.G92131A:p.V30711M;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.1027;esp6500siv2_ea=0.0308;esp6500siv2_all=0.1027;esp6500siv2_ea=0.0308;1000g2015aug_all=0.15016;avsnp147=rs747122;Kaviar_AF=0.0856975;Kaviar_AC=13249;Kaviar_AN=154602;ExAC_ALL=0.0906;ExAC_AFR=0.2615;ExAC_AMR=0.2080;ExAC_EAS=0.0256;ExAC_FIN=0.0590;ExAC_NFE=0.0337;ExAC_OTH=0.0791;ExAC_SAS=0.1843;CLNALLELEID=56683;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.119;SIFT_pred=T;Polyphen2_HDIV_score=0.966;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.691;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_pred=.;MutationTaster_score=0.003;MutationTaster_pred=P;MutationAssessor_score=2.025;MutationAssessor_pred=M;FATHMM_score=0.38;FATHMM_pred=T;PROVEAN_score=-2.08;PROVEAN_pred=N;VEST3_score=0.257;CADD_raw=2.929;CADD_phred=22.0;DANN_score=0.944;fathmm-MKL_coding_score=0.859;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.126;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.74;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=0.998;SiPhy_29way_logOdds=15.858;GDI_full_10282015=.;dpsi_max_tissue=0.1187;dpsi_zscore=0.538;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0930;gnomAD_exome_AFR=0.2594;gnomAD_exome_AMR=0.2071;gnomAD_exome_ASJ=0.0360;gnomAD_exome_EAS=0.0274;gnomAD_exome_FIN=0.0580;gnomAD_exome_NFE=0.0334;gnomAD_exome_OTH=0.0732;gnomAD_exome_SAS=0.1820;gnomAD_genome_ALL=0.0994;gnomAD_genome_AFR=0.2493;gnomAD_genome_AMR=0.1814;gnomAD_genome_ASJ=0.0298;gnomAD_genome_EAS=0.0288;gnomAD_genome_FIN=0.0532;gnomAD_genome_NFE=0.0294;gnomAD_genome_OTH=0.0692;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 . . . . . . . . . . . . 1:103:0,46 . . . . 1:91:0,39 . . . . . . . . . . . . . . . . . . . 1:79:0,40 . . . . 2 179416556 47504;rs11897366 A C 200.00 . #_unique_end_positions=,31;#_unique_start_positions=,29;AC=3;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2738;AF_ESP_clinvar_20171029_hg19=,0.1040;AF_EXAC_clinvar_20171029_hg19=,0.09154;AF_TGP_clinvar_20171029_hg19=,0.1524;ALLELEID_clinvar_20171029_hg19=,56668;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1830;AN=3;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.2;CAF_dbsnp_common_v150_hg19_refseq=,0.8476|0.1524|.;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179416556A>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:26886;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.86148T>G|_NM_001267550.2:c.91071T>G|_NM_003319.4:c.63876T>G|_NM_133378.4:c.83367T>G|_NM_133432.3:c.64251T>G|_NM_133437.4:c.64452T>G;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.91071T>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0258;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0527;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,52;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273|TTN-AS1:100506866;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:100506866|GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,A/C;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:44124|HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN-AS1|TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6048|gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179416556;RS_dbsnp_common_v150_hg19_refseq=,11897366;Read_count=,41;Read_coverage=,93;Read_direction_test_probability=,0.9893383245460019;Read_position_test_probability=,0.9819060284829131;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,41;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1994;SF=12,17,37;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.855279|0.144687|3.4343e-005;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05012808030515053f000101;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.285714;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0583333;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.0365854;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.0352941;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.1875;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.311111;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.19;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.185315;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.0397727;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.283333;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.997;db_xref=,GeneID:100506866|HGNC:HGNC:44124|GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN_antisense_RNA_1|titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN-AS1|TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lncRNA|protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon163:c.T63876G:p.T21292T,TTN:NM_133432:exon164:c.T64251G:p.T21417T,TTN:NM_133437:exon164:c.T64452G:p.T21484T,TTN:NM_133378:exon284:c.T83367G:p.T27789T,TTN:NM_001256850:exon285:c.T86148G:p.T28716T,TTN:NM_001267550:exon335:c.T91071G:p.T30357T;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.1040;esp6500siv2_ea=0.0328;esp6500siv2_all=0.1040;esp6500siv2_ea=0.0328;1000g2015aug_all=0.152356;avsnp147=rs11897366;Kaviar_AF=0.0863702;Kaviar_AC=13353;Kaviar_AN=154602;ExAC_ALL=0.0915;ExAC_AFR=0.2633;ExAC_AMR=0.2091;ExAC_EAS=0.0257;ExAC_FIN=0.0590;ExAC_NFE=0.0352;ExAC_OTH=0.0811;ExAC_SAS=0.1829;CLNALLELEID=56668;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1594;dpsi_zscore=-0.602;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0941;gnomAD_exome_AFR=0.2615;gnomAD_exome_AMR=0.2090;gnomAD_exome_ASJ=0.0359;gnomAD_exome_EAS=0.0274;gnomAD_exome_FIN=0.0580;gnomAD_exome_NFE=0.0354;gnomAD_exome_OTH=0.0756;gnomAD_exome_SAS=0.1826;gnomAD_genome_ALL=0.1007;gnomAD_genome_AFR=0.2507;gnomAD_genome_AMR=0.1806;gnomAD_genome_ASJ=0.0298;gnomAD_genome_EAS=0.0284;gnomAD_genome_FIN=0.0530;gnomAD_genome_NFE=0.0311;gnomAD_genome_OTH=0.0729;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 . . . . . . . . . . . . 1:88:0,40 . . . . 1:93:0,45 . . . . . . . . . . . . . . . . . . . 1:78:0,35 . . . . 2 179417867 . T G 200.00 . #_unique_end_positions=,36;#_unique_start_positions=,30;AC=2;AN=2;Amino_acid_change=,NP_003310.4:p.Glu20855Asp|_NP_597681.4:p.Glu21047Asp|_NP_001243779.1:p.Glu28279Asp|_NP_001254479.2:p.Glu29920Asp|_NP_597676.3:p.Glu20980Asp|_NP_596869.4:p.Glu27352Asp;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Glu29920Asp;BaseQRankSum=,0.32;Coding_region_change=,NM_001256850.1:c.84837A>C|_NM_001267550.2:c.89760A>C|_NM_003319.4:c.62565A>C|_NM_133378.4:c.82056A>C|_NM_133432.3:c.62940A>C|_NM_133437.4:c.63141A>C;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.89760A>C;Forward_read_coverage=,71;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:100506866|GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,G/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:44124|HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN-AS1|TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6048|gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;Read_count=,58;Read_coverage=,119;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9994995158193968;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,48;SF=23,38;conservation_score=,0.839;db_xref=,GeneID:100506866|HGNC:HGNC:44124|GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN_antisense_RNA_1|titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN-AS1|TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lncRNA|protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon163:c.A62565C:p.E20855D,TTN:NM_133432:exon164:c.A62940C:p.E20980D,TTN:NM_133437:exon164:c.A63141C:p.E21047D,TTN:NM_133378:exon284:c.A82056C:p.E27352D,TTN:NM_001256850:exon285:c.A84837C:p.E28279D,TTN:NM_001267550:exon335:c.A89760C:p.E29920D;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs747181293;Kaviar_AF=8.41e-05;Kaviar_AC=13;Kaviar_AN=154602;ExAC_ALL=9.979e-05;ExAC_AFR=0;ExAC_AMR=0.0008;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=4.509e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=490731;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.136;SIFT_pred=T;Polyphen2_HDIV_score=0.052;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.082;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.679;MutationTaster_pred=N;MutationAssessor_score=1.495;MutationAssessor_pred=L;FATHMM_score=-0.4;FATHMM_pred=T;PROVEAN_score=-1.82;PROVEAN_pred=N;VEST3_score=0.139;CADD_raw=0.586;CADD_phred=8.060;DANN_score=0.896;fathmm-MKL_coding_score=0.725;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.692;MetaSVM_pred=T;MetaLR_score=0.220;MetaLR_pred=T;integrated_fitCons_score=0.476;integrated_confidence_value=0;GERP++_RS=-0.076;phyloP7way_vertebrate=0.079;phyloP20way_mammalian=0.153;phastCons7way_vertebrate=0.976;phastCons20way_mammalian=0.976;SiPhy_29way_logOdds=11.017;GDI_full_10282015=.;dpsi_max_tissue=-0.0281;dpsi_zscore=-0.154;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=7.749e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0004;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=2.702e-05;gnomAD_exome_OTH=0.0004;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . 1:113:0,55 . . . . . . . . . . . . . . 1:73:0,29 . . . 2 179419792 47477;rs146181116 G A 200.00 . #_unique_end_positions=,27;#_unique_start_positions=,24;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0034;AF_EXAC_clinvar_20171029_hg19=,0.00273;AF_TGP_clinvar_20171029_hg19=,0.0018;ALLELEID_clinvar_20171029_hg19=,56641;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0014;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_003310.4:p.Ser20400Phe|_NP_001243779.1:p.Ser27824Phe|_NP_596869.4:p.Ser26897Phe|_NP_001254479.2:p.Ser29465Phe|_NP_597676.3:p.Ser20525Phe|_NP_597681.4:p.Ser20592Phe;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Ser29465Phe;BaseQRankSum=,0.01;CAF_dbsnp_common_v150_hg19_refseq=,0.9982|0.001797;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1837342|OMIM:608807|Orphanet:ORPHA140922|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1858763|OMIM:604145|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy|_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive|not_provided;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179419792G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_conflicting_interpretations;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:101177;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.83471C>T|_NM_001267550.2:c.88394C>T|_NM_003319.4:c.61199C>T|_NM_133378.4:c.80690C>T|_NM_133432.3:c.61574C>T|_NM_133437.4:c.61775C>T;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.88394C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0070;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,38;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273|TTN-AS1:100506866;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:100506866|GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:44124|HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN-AS1|TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6048|gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179419792;RS_dbsnp_common_v150_hg19_refseq=,146181116;Read_count=,39;Read_coverage=,77;Read_direction_test_probability=,0.9281917382338536;Read_position_test_probability=,0.4755977904944233;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,39;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;SF=11;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.998386|0.00161412;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050268080a05040436100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:100506866|HGNC:HGNC:44124|GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN_antisense_RNA_1|titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN-AS1|TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lncRNA|protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon159:c.C61199T:p.S20400F,TTN:NM_133432:exon160:c.C61574T:p.S20525F,TTN:NM_133437:exon160:c.C61775T:p.S20592F,TTN:NM_133378:exon280:c.C80690T:p.S26897F,TTN:NM_001256850:exon281:c.C83471T:p.S27824F,TTN:NM_001267550:exon331:c.C88394T:p.S29465F;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0034;esp6500siv2_ea=0.0045;esp6500siv2_all=0.0034;esp6500siv2_ea=0.0045;1000g2015aug_all=0.00179712;avsnp147=rs146181116;Kaviar_AF=0.0028201;Kaviar_AC=436;Kaviar_AN=154602;ExAC_ALL=0.0027;ExAC_AFR=0.0004;ExAC_AMR=0.0014;ExAC_EAS=0;ExAC_FIN=0.0064;ExAC_NFE=0.0039;ExAC_OTH=0.0022;ExAC_SAS=0.0002;CLNALLELEID=56641;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.69;SIFT_pred=T;Polyphen2_HDIV_score=0.988;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.739;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_pred=.;MutationTaster_score=0.999;MutationTaster_pred=D;MutationAssessor_score=1.77;MutationAssessor_pred=L;FATHMM_score=-0.37;FATHMM_pred=T;PROVEAN_score=-3.68;PROVEAN_pred=D;VEST3_score=0.401;CADD_raw=3.106;CADD_phred=22.5;DANN_score=0.984;fathmm-MKL_coding_score=0.922;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.359;MetaSVM_pred=T;MetaLR_score=0.304;MetaLR_pred=T;integrated_fitCons_score=0.523;integrated_confidence_value=0;GERP++_RS=5.66;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.996;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=20.104;GDI_full_10282015=.;dpsi_max_tissue=-0.0039;dpsi_zscore=0.002;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0030;gnomAD_exome_AFR=0.0004;gnomAD_exome_AMR=0.0013;gnomAD_exome_ASJ=0.0022;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0064;gnomAD_exome_NFE=0.0044;gnomAD_exome_OTH=0.0037;gnomAD_exome_SAS=0.0002;gnomAD_genome_ALL=0.0049;gnomAD_genome_AFR=0.0010;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0057;gnomAD_genome_NFE=0.0077;gnomAD_genome_OTH=0.0061;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . . . . 1:68:0,35 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2 179421609 47476;rs9808036 C T 200.00 . #_unique_end_positions=,41;#_unique_start_positions=,31;AC=3;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0378;AF_ESP_clinvar_20171029_hg19=,0.0315;AF_EXAC_clinvar_20171029_hg19=,0.07006;AF_TGP_clinvar_20171029_hg19=,0.0843;ALLELEID_clinvar_20171029_hg19=,56640;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1527;AN=3;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.24;CAF_dbsnp_common_v150_hg19_refseq=,0.9157|0.08427;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179421609C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:26906;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.83349G>A|_NM_001267550.2:c.88272G>A|_NM_003319.4:c.61077G>A|_NM_133378.4:c.80568G>A|_NM_133432.3:c.61452G>A|_NM_133437.4:c.61653G>A;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.88272G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0248;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0477;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,94;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273|TTN-AS1:100506866;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:100506866|GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:44124|HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN-AS1|TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6048|gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179421609;RS_dbsnp_common_v150_hg19_refseq=,9808036;Read_count=,51;Read_coverage=,131;Read_direction_test_probability=,0.9944722237614712;Read_position_test_probability=,0.7236929302409477;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,37;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1973;SF=12,17,37;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.958891|0.0411086;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050328080305150537000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.0204082;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0353982;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.0365854;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.0352941;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.181818;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.0444444;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.15;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.013986;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.0340909;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0176991;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.5;db_xref=,GeneID:100506866|HGNC:HGNC:44124|GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN_antisense_RNA_1|titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN-AS1|TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lncRNA|protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon158:c.G61077A:p.E20359E,TTN:NM_133432:exon159:c.G61452A:p.E20484E,TTN:NM_133437:exon159:c.G61653A:p.E20551E,TTN:NM_133378:exon279:c.G80568A:p.E26856E,TTN:NM_001256850:exon280:c.G83349A:p.E27783E,TTN:NM_001267550:exon330:c.G88272A:p.E29424E;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0314;esp6500siv2_ea=0.0291;esp6500siv2_all=0.0314;esp6500siv2_ea=0.0291;1000g2015aug_all=0.0842652;avsnp147=rs9808036;Kaviar_AF=0.066364;Kaviar_AC=10260;Kaviar_AN=154602;ExAC_ALL=0.0701;ExAC_AFR=0.0347;ExAC_AMR=0.1963;ExAC_EAS=0.0259;ExAC_FIN=0.0591;ExAC_NFE=0.0325;ExAC_OTH=0.0674;ExAC_SAS=0.1815;CLNALLELEID=56640;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1094;dpsi_zscore=0.511;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0758;gnomAD_exome_AFR=0.0325;gnomAD_exome_AMR=0.1949;gnomAD_exome_ASJ=0.0305;gnomAD_exome_EAS=0.0274;gnomAD_exome_FIN=0.0577;gnomAD_exome_NFE=0.0324;gnomAD_exome_OTH=0.0624;gnomAD_exome_SAS=0.1810;gnomAD_genome_ALL=0.0373;gnomAD_genome_AFR=0.0331;gnomAD_genome_AMR=0.1683;gnomAD_genome_ASJ=0.0265;gnomAD_genome_EAS=0.0282;gnomAD_genome_FIN=0.0529;gnomAD_genome_NFE=0.0284;gnomAD_genome_OTH=0.0602;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 . . . . . . . . . . . . 1:122:0,46 . . . . 1:111:0,52 . . . . . . . . . . . . . . . . . . . 1:78:0,42 . . . . 2 179421694 47475;rs9808377 A G 197.87 . #_unique_end_positions=,46;#_unique_start_positions=,42;AC=21;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5666;AF_ESP_clinvar_20171029_hg19=,0.3183;AF_EXAC_clinvar_20171029_hg19=,0.35060;ALLELEID_clinvar_20171029_hg19=,56639;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4049;AN=21;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_596869.4:p.Ile26828Thr|_NP_001243779.1:p.Ile27755Thr|_NP_001254479.2:p.Ile29396Thr|_NP_597681.4:p.Ile20523Thr|_NP_003310.4:p.Ile20331Thr|_NP_597676.3:p.Ile20456Thr;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Ile29396Thr;BaseQRankSum=,0.03;CAF_dbsnp_common_v150_hg19_refseq=,0.4928|0.5072;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179421694A>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:26917;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.83264T>C|_NM_001267550.2:c.88187T>C|_NM_003319.4:c.60992T>C|_NM_133378.4:c.80483T>C|_NM_133432.3:c.61367T>C|_NM_133437.4:c.61568T>C;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.88187T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7153;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2495;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,66;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273|TTN-AS1:100506866;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:100506866|GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:44124|HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN-AS1|TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6048|gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179421694;RS_dbsnp_common_v150_hg19_refseq=,9808377;Read_count=,71;Read_coverage=,138;Read_direction_test_probability=,0.9985611841578645;Read_position_test_probability=,0.9938989131827126;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,72;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5501;SF=0,1,5,10,12,14,15,16,17,19,20,27,28,29,35,36,37,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.588433|0.411567;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050328080a0517053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.530612;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.19469;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.6875;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.658824;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.494318;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.642857;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.656977;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.544444;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.35;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.384615;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.25;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.610619;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.094;db_xref=,GeneID:100506866|HGNC:HGNC:44124|GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN_antisense_RNA_1|titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN-AS1|TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lncRNA|protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon158:c.T60992C:p.I20331T,TTN:NM_133432:exon159:c.T61367C:p.I20456T,TTN:NM_133437:exon159:c.T61568C:p.I20523T,TTN:NM_133378:exon279:c.T80483C:p.I26828T,TTN:NM_001256850:exon280:c.T83264C:p.I27755T,TTN:NM_001267550:exon330:c.T88187C:p.I29396T;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.3183;esp6500siv2_ea=0.2206;esp6500siv2_all=0.3183;esp6500siv2_ea=0.2206;1000g2015aug_all=0.507188;avsnp147=rs9808377;Kaviar_AF=0.33788;Kaviar_AC=52237;Kaviar_AN=154602;ExAC_ALL=0.3506;ExAC_AFR=0.5427;ExAC_AMR=0.4290;ExAC_EAS=0.6988;ExAC_FIN=0.2765;ExAC_NFE=0.2298;ExAC_OTH=0.3307;ExAC_SAS=0.5209;CLNALLELEID=56639;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-2.455;MutationAssessor_pred=N;FATHMM_score=0.73;FATHMM_pred=T;PROVEAN_score=3.16;PROVEAN_pred=N;VEST3_score=0.066;CADD_raw=-0.530;CADD_phred=0.186;DANN_score=0.536;fathmm-MKL_coding_score=0.062;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.881;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=-2.9;phyloP7way_vertebrate=-0.666;phyloP20way_mammalian=-1.254;phastCons7way_vertebrate=0.976;phastCons20way_mammalian=0.062;SiPhy_29way_logOdds=12.559;GDI_full_10282015=.;dpsi_max_tissue=-0.0088;dpsi_zscore=-0.029;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3504;gnomAD_exome_AFR=0.5434;gnomAD_exome_AMR=0.4259;gnomAD_exome_ASJ=0.2802;gnomAD_exome_EAS=0.7028;gnomAD_exome_FIN=0.2783;gnomAD_exome_NFE=0.2240;gnomAD_exome_OTH=0.3075;gnomAD_exome_SAS=0.5145;gnomAD_genome_ALL=0.3521;gnomAD_genome_AFR=0.5392;gnomAD_genome_AMR=0.4103;gnomAD_genome_ASJ=0.2450;gnomAD_genome_EAS=0.6912;gnomAD_genome_FIN=0.2682;gnomAD_genome_NFE=0.2291;gnomAD_genome_OTH=0.3045;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 1:126:0,65 1:110:0,59 . . . 1:103:0,56 . . . . 1:109:0,53 . 1:124:0,52 . 1:154:0,71 1:113:0,57 1:127:0,68 1:108:0,42 . 1/1:97:0,97 1:140:0,63 . . . . . . 1:139:0,71 1:112:0,61 1:118:0,58 . . . . . 1/1:98:0,98 1:113:0,52 1:81:0,43 . . 1:141:0,84 1:94:0,41 2 179422805 . A G 200.00 . #_unique_end_positions=,37;#_unique_start_positions=,36;AC=1;AN=1;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.15;Coding_region_change=,NM_001256850.1:c.82353T>C|_NM_001267550.2:c.87276T>C|_NM_003319.4:c.60081T>C|_NM_133378.4:c.79572T>C|_NM_133432.3:c.60456T>C|_NM_133437.4:c.60657T>C;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.87276T>C;Forward_read_coverage=,48;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:100506866|GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:44124|HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN-AS1|TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6048|gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;Read_count=,65;Read_coverage=,133;Read_direction_test_probability=,0.9674690498214287;Read_position_test_probability=,0.99902109004338;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,85;SF=40;conservation_score=,0.998;db_xref=,GeneID:100506866|HGNC:HGNC:44124|GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN_antisense_RNA_1|titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN-AS1|TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lncRNA|protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon156:c.T60081C:p.N20027N,TTN:NM_133432:exon157:c.T60456C:p.N20152N,TTN:NM_133437:exon157:c.T60657C:p.N20219N,TTN:NM_133378:exon277:c.T79572C:p.N26524N,TTN:NM_001256850:exon278:c.T82353C:p.N27451N,TTN:NM_001267550:exon328:c.T87276C:p.N29092N;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0259;dpsi_zscore=-0.141;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.074e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=9.007e-06;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:114:0,58 . 2 179424333 47455 A C 200.00 . #_unique_end_positions=,47;#_unique_start_positions=,36;AC=1;AF_ESP_clinvar_20171029_hg19=,0.0004;AF_EXAC_clinvar_20171029_hg19=,0.00036;ALLELEID_clinvar_20171029_hg19=,56619;AN=1;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.19;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1837342|OMIM:608807|Orphanet:ORPHA140922|MedGen:C1858763|OMIM:604145|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Limb-girdle_muscular_dystrophy|_type_2J|Dilated_cardiomyopathy_1G|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179424333A>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_conflicting_interpretations;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;Coding_region_change=,NM_001256850.1:c.81603T>G|_NM_001267550.2:c.86526T>G|_NM_003319.4:c.59331T>G|_NM_133378.4:c.78822T>G|_NM_133432.3:c.59706T>G|_NM_133437.4:c.59907T>G;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.86526T>G;Exact_match=,clinvar_20171029_hg19;Forward_read_coverage=,49;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:100506866|GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,A/C;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:44124|HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN-AS1|TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6048|gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;Read_count=,65;Read_coverage=,112;Read_direction_test_probability=,0.9867602774043617;Read_position_test_probability=,0.8588193940625906;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,63;SF=41;conservation_score=,0.986;db_xref=,GeneID:100506866|HGNC:HGNC:44124|GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN_antisense_RNA_1|titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN-AS1|TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lncRNA|protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.T59331G:p.V19777V,TTN:NM_133432:exon155:c.T59706G:p.V19902V,TTN:NM_133437:exon155:c.T59907G:p.V19969V,TTN:NM_133378:exon275:c.T78822G:p.V26274V,TTN:NM_001256850:exon276:c.T81603G:p.V27201V,TTN:NM_001267550:exon326:c.T86526G:p.V28842V;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0004;esp6500siv2_ea=0.0006;esp6500siv2_all=0.0004;esp6500siv2_ea=0.0006;1000g2015aug_all=.;avsnp147=rs72648226;Kaviar_AF=0.0002975;Kaviar_AC=46;Kaviar_AN=154602;ExAC_ALL=0.0004;ExAC_AFR=0;ExAC_AMR=0.0005;ExAC_EAS=0;ExAC_FIN=0.0003;ExAC_NFE=0.0005;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=56619;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0003;gnomAD_exome_AFR=6.545e-05;gnomAD_exome_AMR=0.0004;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=8.988e-05;gnomAD_exome_NFE=0.0006;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0004;gnomAD_genome_AFR=0.0002;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0006;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:109:0,62 2 179427186 47429;rs2366751 A G 195.74 . #_unique_end_positions=,46;#_unique_start_positions=,34;AC=21;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5673;AF_ESP_clinvar_20171029_hg19=,0.3180;AF_EXAC_clinvar_20171029_hg19=,0.35130;ALLELEID_clinvar_20171029_hg19=,56593;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4078;AN=21;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.01;CAF_dbsnp_common_v150_hg19_refseq=,0.4912|0.5088;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179427186A>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:26934;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.78750T>C|_NM_001267550.2:c.83673T>C|_NM_003319.4:c.56478T>C|_NM_133378.4:c.75969T>C|_NM_133432.3:c.56853T>C|_NM_133437.4:c.57054T>C;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.83673T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7153;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2535;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,70;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273|TTN-AS1:100506866;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:100506866|GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:44124|HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN-AS1|TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6048|gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179427186;RS_dbsnp_common_v150_hg19_refseq=,2366751;Read_count=,69;Read_coverage=,149;Read_direction_test_probability=,0.9847691008894289;Read_position_test_probability=,0.5701734972862851;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,79;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5511;SF=0,1,5,10,12,14,15,16,17,19,20,27,28,29,35,36,37,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.587643|0.412357;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05032808030517053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.530612;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.199115;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.682927;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.650602;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.5;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.639535;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.656977;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.55;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.35;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.387324;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.255682;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.610619;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.998;db_xref=,GeneID:100506866|HGNC:HGNC:44124|GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN_antisense_RNA_1|titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN-AS1|TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lncRNA|protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.T56478C:p.G18826G,TTN:NM_133432:exon155:c.T56853C:p.G18951G,TTN:NM_133437:exon155:c.T57054C:p.G19018G,TTN:NM_133378:exon275:c.T75969C:p.G25323G,TTN:NM_001256850:exon276:c.T78750C:p.G26250G,TTN:NM_001267550:exon326:c.T83673C:p.G27891G;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.3180;esp6500siv2_ea=0.2228;esp6500siv2_all=0.3180;esp6500siv2_ea=0.2228;1000g2015aug_all=0.508786;avsnp147=rs2366751;Kaviar_AF=0.337078;Kaviar_AC=52113;Kaviar_AN=154602;ExAC_ALL=0.3513;ExAC_AFR=0.5427;ExAC_AMR=0.4301;ExAC_EAS=0.6962;ExAC_FIN=0.2763;ExAC_NFE=0.2312;ExAC_OTH=0.3315;ExAC_SAS=0.5212;CLNALLELEID=56593;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3508;gnomAD_exome_AFR=0.5439;gnomAD_exome_AMR=0.4270;gnomAD_exome_ASJ=0.2795;gnomAD_exome_EAS=0.7032;gnomAD_exome_FIN=0.2774;gnomAD_exome_NFE=0.2252;gnomAD_exome_OTH=0.3090;gnomAD_exome_SAS=0.5141;gnomAD_genome_ALL=0.3529;gnomAD_genome_AFR=0.5390;gnomAD_genome_AMR=0.4117;gnomAD_genome_ASJ=0.2450;gnomAD_genome_EAS=0.6928;gnomAD_genome_FIN=0.2683;gnomAD_genome_NFE=0.2311;gnomAD_genome_OTH=0.3016;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 1:128:0,61 1:87:0,39 . . . 1:97:0,44 . . . . 1:166:0,71 . 1:113:0,64 . 1:142:0,68 1:109:0,56 1:105:0,61 1:106:0,46 . 1/1:94:0,92 1:114:0,64 . . . . . . 1:164:0,80 1:121:0,63 1:128:0,73 . . . . . 1/1:119:0,119 1:120:0,68 1:79:0,34 . . 1:126:0,64 1:92:0,39 2 179427536 47425;rs3829746 T C 197.87 . #_unique_end_positions=,42;#_unique_start_positions=,41;AC=21;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5658;AF_ESP_clinvar_20171029_hg19=,0.3200;AF_EXAC_clinvar_20171029_hg19=,0.35359;ALLELEID_clinvar_20171029_hg19=,56589;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4078;AN=21;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_003310.4:p.Ile18710Val|_NP_001254479.2:p.Ile27775Val|_NP_001243779.1:p.Ile26134Val|_NP_597681.4:p.Ile18902Val|_NP_597676.3:p.Ile18835Val|_NP_596869.4:p.Ile25207Val;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Ile27775Val;BaseQRankSum=,0.2;CAF_dbsnp_common_v150_hg19_refseq=,0.4916|0.5084;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179427536T>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:26940;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.78400A>G|_NM_001267550.2:c.83323A>G|_NM_003319.4:c.56128A>G|_NM_133378.4:c.75619A>G|_NM_133432.3:c.56503A>G|_NM_133437.4:c.56704A>G;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.83323A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7153;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2535;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,57;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273|TTN-AS1:100506866;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:100506866|GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:44124|HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN-AS1|TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6048|gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179427536;RS_dbsnp_common_v150_hg19_refseq=,3829746;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,57;Read_coverage=,109;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9582001988738416;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,52;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5511;SF=0,1,5,10,12,14,15,16,17,19,20,27,28,29,35,36,37,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.587678|0.412322;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050328080a0517053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.520408;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.191667;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.682927;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.658824;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.5;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.655556;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.677778;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.544444;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.35;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.384615;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.255682;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.6;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.994;db_xref=,GeneID:100506866|HGNC:HGNC:44124|GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN_antisense_RNA_1|titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN-AS1|TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lncRNA|protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.A56128G:p.I18710V,TTN:NM_133432:exon155:c.A56503G:p.I18835V,TTN:NM_133437:exon155:c.A56704G:p.I18902V,TTN:NM_133378:exon275:c.A75619G:p.I25207V,TTN:NM_001256850:exon276:c.A78400G:p.I26134V,TTN:NM_001267550:exon326:c.A83323G:p.I27775V;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.3200;esp6500siv2_ea=0.2229;esp6500siv2_all=0.3200;esp6500siv2_ea=0.2229;1000g2015aug_all=0.508387;avsnp147=rs3829746;Kaviar_AF=0.337777;Kaviar_AC=52221;Kaviar_AN=154602;ExAC_ALL=0.3536;ExAC_AFR=0.5465;ExAC_AMR=0.4329;ExAC_EAS=0.6995;ExAC_FIN=0.2760;ExAC_NFE=0.2335;ExAC_OTH=0.3372;ExAC_SAS=0.5218;CLNALLELEID=56589;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.971;MutationTaster_pred=P;MutationAssessor_score=-0.615;MutationAssessor_pred=N;FATHMM_score=0.62;FATHMM_pred=T;PROVEAN_score=0.53;PROVEAN_pred=N;VEST3_score=0.033;CADD_raw=0.936;CADD_phred=10.29;DANN_score=0.862;fathmm-MKL_coding_score=0.029;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.971;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.15;phyloP7way_vertebrate=-1.188;phyloP20way_mammalian=-0.302;phastCons7way_vertebrate=0.935;phastCons20way_mammalian=0.908;SiPhy_29way_logOdds=9.630;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3519;gnomAD_exome_AFR=0.5448;gnomAD_exome_AMR=0.4277;gnomAD_exome_ASJ=0.2814;gnomAD_exome_EAS=0.7027;gnomAD_exome_FIN=0.2782;gnomAD_exome_NFE=0.2261;gnomAD_exome_OTH=0.3101;gnomAD_exome_SAS=0.5153;gnomAD_genome_ALL=0.3527;gnomAD_genome_AFR=0.5386;gnomAD_genome_AMR=0.4117;gnomAD_genome_ASJ=0.2450;gnomAD_genome_EAS=0.6938;gnomAD_genome_FIN=0.2683;gnomAD_genome_NFE=0.2309;gnomAD_genome_OTH=0.3041;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 1:103:0,55 1:101:0,52 . . . 1:66:0,35 . . . . 1:130:0,70 . 1:106:0,52 . 1:133:0,67 1:120:0,60 1:106:0,45 1:120:0,68 . 1/1:84:0,84 1:130:0,70 . . . . . . 1:162:0,81 1:127:0,57 1:110:0,64 . . . . . 1/1:106:0,106 1:100:0,66 1:78:0,43 . . 1:122:0,50 1:98:0,52 2 179427778 . C T 200.00 . #_unique_end_positions=,56;#_unique_start_positions=,50;AC=1;AN=1;Amino_acid_change=,NP_597676.3:p.Arg18754His|_NP_003310.4:p.Arg18629His|_NP_597681.4:p.Arg18821His|_NP_001243779.1:p.Arg26053His|_NP_001254479.2:p.Arg27694His|_NP_596869.4:p.Arg25126His;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Arg27694His;BaseQRankSum=,-0.15;Coding_region_change=,NM_001256850.1:c.78158G>A|_NM_001267550.2:c.83081G>A|_NM_003319.4:c.55886G>A|_NM_133378.4:c.75377G>A|_NM_133432.3:c.56261G>A|_NM_133437.4:c.56462G>A;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.83081G>A;Forward_read_coverage=,81;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:100506866|GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:44124|HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN-AS1|TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6048|gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;Read_count=,85;Read_coverage=,201;Read_direction_test_probability=,0.9995555844228496;Read_position_test_probability=,0.9978324993803184;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,120;SF=21;conservation_score=,1.0;db_xref=,GeneID:100506866|HGNC:HGNC:44124|GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN_antisense_RNA_1|titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN-AS1|TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lncRNA|protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.G55886A:p.R18629H,TTN:NM_133432:exon155:c.G56261A:p.R18754H,TTN:NM_133437:exon155:c.G56462A:p.R18821H,TTN:NM_133378:exon275:c.G75377A:p.R25126H,TTN:NM_001256850:exon276:c.G78158A:p.R26053H,TTN:NM_001267550:exon326:c.G83081A:p.R27694H;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs775499341;Kaviar_AF=0.0001682;Kaviar_AC=26;Kaviar_AN=154602;ExAC_ALL=0.0002;ExAC_AFR=0.0001;ExAC_AMR=0;ExAC_EAS=0.0024;ExAC_FIN=0;ExAC_NFE=4.496e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=499001;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=0.052;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.725;MutationAssessor_pred=M;FATHMM_score=0.97;FATHMM_pred=T;PROVEAN_score=-3.65;PROVEAN_pred=D;VEST3_score=0.417;CADD_raw=5.379;CADD_phred=25.9;DANN_score=0.951;fathmm-MKL_coding_score=0.973;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.388;MetaSVM_pred=T;MetaLR_score=0.333;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=6.04;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.975;phastCons20way_mammalian=0.998;SiPhy_29way_logOdds=20.579;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0002;gnomAD_exome_AFR=6.544e-05;gnomAD_exome_AMR=2.979e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0.0020;gnomAD_exome_FIN=0;gnomAD_exome_NFE=3.593e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0002;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0.0032;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.663e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=7 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . 1:186:0,80 . . . . . . . . . . . . . . . . . . . . 2 179429612 96307;rs186273940 A G 200.00 . #_unique_end_positions=,41;#_unique_start_positions=,36;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0005;AF_EXAC_clinvar_20171029_hg19=,0.00025;AF_TGP_clinvar_20171029_hg19=,0.0006;ALLELEID_clinvar_20171029_hg19=,102201;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AN=1;Amino_acid_change=,NP_597676.3:p.Ser18143Pro|_NP_597681.4:p.Ser18210Pro|_NP_003310.4:p.Ser18018Pro|_NP_001243779.1:p.Ser25442Pro|_NP_596869.4:p.Ser24515Pro|_NP_001254479.2:p.Ser27083Pro;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Ser27083Pro;BaseQRankSum=,0.02;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1837342|OMIM:608807|Orphanet:ORPHA140922|MedGen:C1858763|OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNDN_clinvar_20171029_hg19=,Limb-girdle_muscular_dystrophy|_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179429612A>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_conflicting_interpretations;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;Coding_region_change=,NM_001256850.1:c.76324T>C|_NM_001267550.2:c.81247T>C|_NM_003319.4:c.54052T>C|_NM_133378.4:c.73543T>C|_NM_133432.3:c.54427T>C|_NM_133437.4:c.54628T>C;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.81247T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0030;Exact_match=,clinvar_20171029_hg19|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,66;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:100506866|GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:44124|HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN-AS1|TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6048|gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;Read_count=,52;Read_coverage=,101;Read_direction_test_probability=,0.9962944186680568;Read_position_test_probability=,0.9810074444840294;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,35;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=1;conservation_score=,0.96;db_xref=,GeneID:100506866|HGNC:HGNC:44124|GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN_antisense_RNA_1|titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN-AS1|TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lncRNA|protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.T54052C:p.S18018P,TTN:NM_133432:exon155:c.T54427C:p.S18143P,TTN:NM_133437:exon155:c.T54628C:p.S18210P,TTN:NM_133378:exon275:c.T73543C:p.S24515P,TTN:NM_001256850:exon276:c.T76324C:p.S25442P,TTN:NM_001267550:exon326:c.T81247C:p.S27083P;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0005;esp6500siv2_ea=0.0007;esp6500siv2_all=0.0005;esp6500siv2_ea=0.0007;1000g2015aug_all=0.000599042;avsnp147=rs186273940;Kaviar_AF=0.0002911;Kaviar_AC=45;Kaviar_AN=154602;ExAC_ALL=0.0003;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0005;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=102201;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.054;SIFT_pred=T;Polyphen2_HDIV_score=0.784;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.575;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_pred=.;MutationTaster_score=0.998;MutationTaster_pred=D;MutationAssessor_score=1.68;MutationAssessor_pred=L;FATHMM_score=0.37;FATHMM_pred=T;PROVEAN_score=-3.43;PROVEAN_pred=D;VEST3_score=0.538;CADD_raw=1.929;CADD_phred=15.76;DANN_score=0.892;fathmm-MKL_coding_score=0.915;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.811;MetaSVM_pred=T;MetaLR_score=0.170;MetaLR_pred=T;integrated_fitCons_score=0.476;integrated_confidence_value=0;GERP++_RS=4.85;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.199;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=0.994;SiPhy_29way_logOdds=4.083;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0003;gnomAD_exome_AFR=6.56e-05;gnomAD_exome_AMR=8.987e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0005;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0003;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0005;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . 1:90:0,48 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2 179430997 47382;rs3731746 G A 194.27 . #_unique_end_positions=,23;#_unique_start_positions=,26;AC=18;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3442;AF_ESP_clinvar_20171029_hg19=,0.2176;AF_EXAC_clinvar_20171029_hg19=,0.23431;AF_TGP_clinvar_20171029_hg19=,0.3423;ALLELEID_clinvar_20171029_hg19=,56547;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2061;AN=18;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_597681.4:p.Thr17748Met|_NP_003310.4:p.Thr17556Met|_NP_597676.3:p.Thr17681Met|_NP_596869.4:p.Thr24053Met|_NP_001243779.1:p.Thr24980Met|_NP_001254479.2:p.Thr26621Met;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Thr26621Met;BaseQRankSum=,-0.01;CAF_dbsnp_common_v150_hg19_refseq=,0.6577|0.3423|.;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179430997G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:26954;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.74939C>T|_NM_001267550.2:c.79862C>T|_NM_003319.4:c.52667C>T|_NM_133378.4:c.72158C>T|_NM_133432.3:c.53042C>T|_NM_133437.4:c.53243C>T;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.79862C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6290;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1710;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,39;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273|TTN-AS1:100506866;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:100506866|GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:44124|HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN-AS1|TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6048|gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179430997;RS_dbsnp_common_v150_hg19_refseq=,3731746;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,39;Read_coverage=,80;Read_direction_test_probability=,0.7126829301434088;Read_position_test_probability=,0.7951901194339548;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,41;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3170;SF=0,1,5,10,14,15,16,19,20,27,28,29,35,36,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.721512|0.278453|3.4343e-005;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050168080a0515053f100100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.27551;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.1;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.597561;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.558824;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.295455;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.566667;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.633333;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.294444;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.12;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.227273;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.193182;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.358333;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.98;db_xref=,GeneID:100506866|HGNC:HGNC:44124|GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN_antisense_RNA_1|titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN-AS1|TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lncRNA|protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.C52667T:p.T17556M,TTN:NM_133432:exon155:c.C53042T:p.T17681M,TTN:NM_133437:exon155:c.C53243T:p.T17748M,TTN:NM_133378:exon275:c.C72158T:p.T24053M,TTN:NM_001256850:exon276:c.C74939T:p.T24980M,TTN:NM_001267550:exon326:c.C79862T:p.T26621M;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.2176;esp6500siv2_ea=0.1669;esp6500siv2_all=0.2176;esp6500siv2_ea=0.1669;1000g2015aug_all=0.342252;avsnp147=rs3731746;Kaviar_AF=0.223128;Kaviar_AC=34496;Kaviar_AN=154602;ExAC_ALL=0.2343;ExAC_AFR=0.3331;ExAC_AMR=0.1867;ExAC_EAS=0.6061;ExAC_FIN=0.1652;ExAC_NFE=0.1691;ExAC_OTH=0.2278;ExAC_SAS=0.3074;CLNALLELEID=56547;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.107;SIFT_pred=T;Polyphen2_HDIV_score=0.914;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.636;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_pred=.;MutationTaster_score=0.017;MutationTaster_pred=P;MutationAssessor_score=2.485;MutationAssessor_pred=M;FATHMM_score=-0.34;FATHMM_pred=T;PROVEAN_score=-3.2;PROVEAN_pred=D;VEST3_score=0.286;CADD_raw=2.294;CADD_phred=18.13;DANN_score=0.867;fathmm-MKL_coding_score=0.873;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.884;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.03;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.994;phastCons20way_mammalian=0.940;SiPhy_29way_logOdds=11.788;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2315;gnomAD_exome_AFR=0.3361;gnomAD_exome_AMR=0.1861;gnomAD_exome_ASJ=0.2291;gnomAD_exome_EAS=0.6121;gnomAD_exome_FIN=0.1718;gnomAD_exome_NFE=0.1655;gnomAD_exome_OTH=0.2071;gnomAD_exome_SAS=0.3033;gnomAD_genome_ALL=0.2424;gnomAD_genome_AFR=0.3362;gnomAD_genome_AMR=0.2093;gnomAD_genome_ASJ=0.1788;gnomAD_genome_EAS=0.6087;gnomAD_genome_FIN=0.1607;gnomAD_genome_NFE=0.1745;gnomAD_genome_OTH=0.1990;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 1:72:0,35 1:78:0,39 . . . 1:60:0,24 . . . . 1:103:0,61 . . . 1:135:0,52 1:88:0,38 1:95:0,42 . . 1/1:59:0,59 1:94:0,52 . . . . . . 1:99:0,44 1:129:0,48 1:101:0,48 . . . . . 1/1:77:0,77 1:92:0,48 . . . 1:97:0,43 1:103:0,49 2 179431076 47380;rs56307213 C G 200.00 . #_unique_end_positions=,32;#_unique_start_positions=,23;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0150;AF_EXAC_clinvar_20171029_hg19=,0.01478;AF_TGP_clinvar_20171029_hg19=,0.0074;ALLELEID_clinvar_20171029_hg19=,56545;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0086;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_003310.4:p.Asp17530His|_NP_001254479.2:p.Asp26595His|_NP_596869.4:p.Asp24027His|_NP_001243779.1:p.Asp24954His|_NP_597676.3:p.Asp17655His|_NP_597681.4:p.Asp17722His;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Asp26595His;BaseQRankSum=,0.19;CAF_dbsnp_common_v150_hg19_refseq=,0.9926|0.007388;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1837342|OMIM:608807|Orphanet:ORPHA140922|MedGen:C1858763|OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNDN_clinvar_20171029_hg19=,Limb-girdle_muscular_dystrophy|_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179431076C>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.74860G>C|_NM_001267550.2:c.79783G>C|_NM_003319.4:c.52588G>C|_NM_133378.4:c.72079G>C|_NM_133432.3:c.52963G>C|_NM_133437.4:c.53164G>C;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.79783G>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0249;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,39;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273|TTN-AS1:100506866;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:100506866|GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,C/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:44124|HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN-AS1|TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6048|gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179431076;RS_dbsnp_common_v150_hg19_refseq=,56307213;Read_count=,40;Read_coverage=,85;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9482790205280618;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,46;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0061;SF=22;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.98956|0.0104403;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050328080a05040436000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:100506866|HGNC:HGNC:44124|GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN_antisense_RNA_1|titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN-AS1|TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lncRNA|protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.G52588C:p.D17530H,TTN:NM_133432:exon155:c.G52963C:p.D17655H,TTN:NM_133437:exon155:c.G53164C:p.D17722H,TTN:NM_133378:exon275:c.G72079C:p.D24027H,TTN:NM_001256850:exon276:c.G74860C:p.D24954H,TTN:NM_001267550:exon326:c.G79783C:p.D26595H;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0150;esp6500siv2_ea=0.0200;esp6500siv2_all=0.0150;esp6500siv2_ea=0.0200;1000g2015aug_all=0.00738818;avsnp147=rs56307213;Kaviar_AF=0.0144112;Kaviar_AC=2228;Kaviar_AN=154602;ExAC_ALL=0.0148;ExAC_AFR=0.0037;ExAC_AMR=0.0102;ExAC_EAS=0.0001;ExAC_FIN=0.0252;ExAC_NFE=0.0190;ExAC_OTH=0.0189;ExAC_SAS=0.0105;CLNALLELEID=56545;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.007;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=1.0;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=3.59;MutationAssessor_pred=H;FATHMM_score=0.07;FATHMM_pred=T;PROVEAN_score=-5.13;PROVEAN_pred=D;VEST3_score=0.527;CADD_raw=2.573;CADD_phred=19.93;DANN_score=0.870;fathmm-MKL_coding_score=0.990;fathmm-MKL_coding_pred=D;MetaSVM_score=0.121;MetaSVM_pred=D;MetaLR_score=0.377;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.91;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=20.301;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0146;gnomAD_exome_AFR=0.0036;gnomAD_exome_AMR=0.0102;gnomAD_exome_ASJ=0.0086;gnomAD_exome_EAS=5.806e-05;gnomAD_exome_FIN=0.0220;gnomAD_exome_NFE=0.0198;gnomAD_exome_OTH=0.0165;gnomAD_exome_SAS=0.0107;gnomAD_genome_ALL=0.0158;gnomAD_genome_AFR=0.0036;gnomAD_genome_AMR=0.0036;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0.0013;gnomAD_genome_FIN=0.0192;gnomAD_genome_NFE=0.0245;gnomAD_genome_OTH=0.0163;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-7 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . 1:77:0,37 . . . . . . . . . . . . . . . . . . . 2 179431797 47370;rs3731744 A T 175.71 . #_unique_end_positions=,38;#_unique_start_positions=,35;AC=6;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1331;AF_ESP_clinvar_20171029_hg19=,0.0505;AF_EXAC_clinvar_20171029_hg19=,0.04598;AF_TGP_clinvar_20171029_hg19=,0.0927;ALLELEID_clinvar_20171029_hg19=,56535;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0418;AN=6;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.04;CAF_dbsnp_common_v150_hg19_refseq=,0.9073|0.09265;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1837342|OMIM:608807|Orphanet:ORPHA140922|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1858763|OMIM:604145|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy|_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179431797A>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:70285;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.74139T>A|_NM_001267550.2:c.79062T>A|_NM_003319.4:c.51867T>A|_NM_133378.4:c.71358T>A|_NM_133432.3:c.52242T>A|_NM_133437.4:c.52443T>A;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.79062T>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1766;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0328;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,48;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273|TTN-AS1:100506866;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:100506866|GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,A/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:44124|HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN-AS1|TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6048|gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;MTP_dbsnp_common_v150_hg19_refseq=,MTP;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179431797;RS_dbsnp_common_v150_hg19_refseq=,3731744;Read_count=,51;Read_coverage=,96;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9221925530812272;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,48;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0491;SF=0,5,15,35,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.928086|0.0719143;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128080305150537020100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.00833333;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.227273;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.272727;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0833333;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.981;db_xref=,GeneID:100506866|HGNC:HGNC:44124|GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN_antisense_RNA_1|titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN-AS1|TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lncRNA|protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.T51867A:p.G17289G,TTN:NM_133432:exon155:c.T52242A:p.G17414G,TTN:NM_133437:exon155:c.T52443A:p.G17481G,TTN:NM_133378:exon275:c.T71358A:p.G23786G,TTN:NM_001256850:exon276:c.T74139A:p.G24713G,TTN:NM_001267550:exon326:c.T79062A:p.G26354G;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0505;esp6500siv2_ea=0.0208;esp6500siv2_all=0.0505;esp6500siv2_ea=0.0208;1000g2015aug_all=0.0926518;avsnp147=rs3731744;Kaviar_AF=0.0441391;Kaviar_AC=6824;Kaviar_AN=154602;ExAC_ALL=0.0460;ExAC_AFR=0.1239;ExAC_AMR=0.0312;ExAC_EAS=0.1713;ExAC_FIN=0.0172;ExAC_NFE=0.0222;ExAC_OTH=0.05;ExAC_SAS=0.0523;CLNALLELEID=56535;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0453;gnomAD_exome_AFR=0.1239;gnomAD_exome_AMR=0.0336;gnomAD_exome_ASJ=0.0418;gnomAD_exome_EAS=0.1814;gnomAD_exome_FIN=0.0198;gnomAD_exome_NFE=0.0209;gnomAD_exome_OTH=0.0414;gnomAD_exome_SAS=0.0508;gnomAD_genome_ALL=0.0583;gnomAD_genome_AFR=0.1291;gnomAD_genome_AMR=0.0383;gnomAD_genome_ASJ=0.0464;gnomAD_genome_EAS=0.1662;gnomAD_genome_FIN=0.0143;gnomAD_genome_NFE=0.0197;gnomAD_genome_OTH=0.0234;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 1:92:0,51 . . . . 1:54:0,32 . . . . . . . . . 1:71:0,32 . . . . . . . . . . . . . . . . . . . 1:74:0,37 . . . . 1:84:0,39 1:69:0,23 2 179432185 47367;rs12463674 A G 187.01 . #_unique_end_positions=,29;#_unique_start_positions=,28;AC=21;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0053;AF_ESP_clinvar_20171029_hg19=,0.2259;AF_EXAC_clinvar_20171029_hg19=,0.23681;AF_TGP_clinvar_20171029_hg19=,0.1300;ALLELEID_clinvar_20171029_hg19=,56532;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1124;AN=21;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_596869.4:p.Ile23657Thr|_NP_597681.4:p.Ile17352Thr|_NP_001243779.1:p.Ile24584Thr|_NP_001254479.2:p.Ile26225Thr|_NP_003310.4:p.Ile17160Thr|_NP_597676.3:p.Ile17285Thr;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Ile26225Thr;BaseQRankSum=,0.73;CAF_dbsnp_common_v150_hg19_refseq=,0.87|0.13;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179432185A>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:26790;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.73751T>C|_NM_001267550.2:c.78674T>C|_NM_003319.4:c.51479T>C|_NM_133378.4:c.70970T>C|_NM_133432.3:c.51854T>C|_NM_133437.4:c.52055T>C;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.78674T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0427;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3091;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,36;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273|TTN-AS1:100506866;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:100506866|GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:44124|HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN-AS1|TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6048|gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179432185;RS_dbsnp_common_v150_hg19_refseq=,12463674;Read_count=,38;Read_coverage=,80;Read_direction_test_probability=,0.850406752340994;Read_position_test_probability=,0.7201273073256711;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,44;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2168;SF=0,2,4,5,6,7,10,11,17,23,26,31,32,33,36,38,39;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.824645|0.175355;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128080a0515053f000101;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.0510204;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.358407;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.097561;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.0294118;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.244318;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0116279;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0352941;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.00561798;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.15625;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.00699301;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.238636;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:100506866|HGNC:HGNC:44124|GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN_antisense_RNA_1|titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN-AS1|TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lncRNA|protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.T51479C:p.I17160T,TTN:NM_133432:exon155:c.T51854C:p.I17285T,TTN:NM_133437:exon155:c.T52055C:p.I17352T,TTN:NM_133378:exon275:c.T70970C:p.I23657T,TTN:NM_001256850:exon276:c.T73751C:p.I24584T,TTN:NM_001267550:exon326:c.T78674C:p.I26225T;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.2259;esp6500siv2_ea=0.3030;esp6500siv2_all=0.2259;esp6500siv2_ea=0.3030;1000g2015aug_all=0.129992;avsnp147=rs12463674;Kaviar_AF=0.23653;Kaviar_AC=36568;Kaviar_AN=154602;ExAC_ALL=0.2368;ExAC_AFR=0.0471;ExAC_AMR=0.0980;ExAC_EAS=0.0444;ExAC_FIN=0.3982;ExAC_NFE=0.3013;ExAC_OTH=0.2539;ExAC_SAS=0.2201;CLNALLELEID=56532;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.059;SIFT_pred=T;Polyphen2_HDIV_score=0.801;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.192;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=2.34;MutationAssessor_pred=M;FATHMM_score=-0.64;FATHMM_pred=T;PROVEAN_score=-2.95;PROVEAN_pred=D;VEST3_score=0.626;CADD_raw=3.368;CADD_phred=22.9;DANN_score=0.923;fathmm-MKL_coding_score=0.928;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.099;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.476;integrated_confidence_value=0;GERP++_RS=5.65;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.199;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=15.874;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2352;gnomAD_exome_AFR=0.0466;gnomAD_exome_AMR=0.1106;gnomAD_exome_ASJ=0.2114;gnomAD_exome_EAS=0.0450;gnomAD_exome_FIN=0.3816;gnomAD_exome_NFE=0.3052;gnomAD_exome_OTH=0.2328;gnomAD_exome_SAS=0.2201;gnomAD_genome_ALL=0.2338;gnomAD_genome_AFR=0.0524;gnomAD_genome_AMR=0.1319;gnomAD_genome_ASJ=0.2020;gnomAD_genome_EAS=0.0502;gnomAD_genome_FIN=0.3898;gnomAD_genome_NFE=0.3241;gnomAD_genome_OTH=0.3051;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 1:76:0,35 . 1/1:60:0,60 . 1:61:0,36 1:61:0,38 1:33:0,20 1/1:75:0,75 . . 1:83:0,36 1:69:0,35 . . . . . 1:78:0,47 . . . . . 1:74:0,35 . . 1/1:80:0,80 . . . . 1:58:0,27 1:78:0,43 1/1:52:0,52 . . 1:85:0,41 . 1:87:0,45 1:85:0,39 . . 2 179433143 130680;rs56341835 C T 200.00 . #_unique_end_positions=,26;#_unique_start_positions=,21;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0010;AF_EXAC_clinvar_20171029_hg19=,0.00075;AF_TGP_clinvar_20171029_hg19=,0.0002;ALLELEID_clinvar_20171029_hg19=,136126;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AN=1;Amino_acid_change=,NP_001254479.2:p.Glu25906Lys|_NP_003310.4:p.Glu16841Lys|_NP_597681.4:p.Glu17033Lys|_NP_597676.3:p.Glu16966Lys|_NP_001243779.1:p.Glu24265Lys|_NP_596869.4:p.Glu23338Lys;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Glu25906Lys;BaseQRankSum=,-0.25;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1837342|OMIM:608807|Orphanet:ORPHA140922|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1858763|OMIM:604145|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy|_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive|not_provided;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179433143C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_conflicting_interpretations;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:465246;Coding_region_change=,NM_001256850.1:c.72793G>A|_NM_001267550.2:c.77716G>A|_NM_003319.4:c.50521G>A|_NM_133378.4:c.70012G>A|_NM_133432.3:c.50896G>A|_NM_133437.4:c.51097G>A;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.77716G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;Exact_match=,clinvar_20171029_hg19|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,52;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:100506866|GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:44124|HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN-AS1|TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6048|gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;Read_count=,32;Read_coverage=,86;Read_direction_test_probability=,0.5803243205412432;Read_position_test_probability=,0.7715583549055611;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,34;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=7;conservation_score=,1.0;db_xref=,GeneID:100506866|HGNC:HGNC:44124|GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN_antisense_RNA_1|titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN-AS1|TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lncRNA|protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.G50521A:p.E16841K,TTN:NM_133432:exon155:c.G50896A:p.E16966K,TTN:NM_133437:exon155:c.G51097A:p.E17033K,TTN:NM_133378:exon275:c.G70012A:p.E23338K,TTN:NM_001256850:exon276:c.G72793A:p.E24265K,TTN:NM_001267550:exon326:c.G77716A:p.E25906K;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0010;esp6500siv2_ea=0.0015;esp6500siv2_all=0.0010;esp6500siv2_ea=0.0015;1000g2015aug_all=0.000199681;avsnp147=rs56341835;Kaviar_AF=0.0007374;Kaviar_AC=114;Kaviar_AN=154602;ExAC_ALL=0.0008;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0.0006;ExAC_NFE=0.0013;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=136126;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.055;SIFT_pred=T;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.996;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=1.415;MutationAssessor_pred=L;FATHMM_score=0.44;FATHMM_pred=T;PROVEAN_score=-2.48;PROVEAN_pred=N;VEST3_score=0.591;CADD_raw=3.289;CADD_phred=22.8;DANN_score=0.963;fathmm-MKL_coding_score=0.938;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.536;MetaSVM_pred=T;MetaLR_score=0.304;MetaLR_pred=T;integrated_fitCons_score=0.476;integrated_confidence_value=0;GERP++_RS=6.03;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.951;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=20.567;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0006;gnomAD_exome_AFR=6.551e-05;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=5.86e-05;gnomAD_exome_FIN=0.0004;gnomAD_exome_NFE=0.0011;gnomAD_exome_OTH=0.0006;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0006;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0011;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . 1:77:0,30 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2 179434137 47350;rs55696153 A G 200.00 . #_unique_end_positions=,32;#_unique_start_positions=,29;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0026;AF_EXAC_clinvar_20171029_hg19=,0.00230;AF_TGP_clinvar_20171029_hg19=,0.0004;ALLELEID_clinvar_20171029_hg19=,56515;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.01;CAF_dbsnp_common_v150_hg19_refseq=,0.9996|0.0003994;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1837342|OMIM:608807|Orphanet:ORPHA140922|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1858763|OMIM:604145|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy|_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179434137A>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_conflicting_interpretations;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:126953;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.71799T>C|_NM_001267550.2:c.76722T>C|_NM_003319.4:c.49527T>C|_NM_133378.4:c.69018T>C|_NM_133432.3:c.49902T>C|_NM_133437.4:c.50103T>C;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.76722T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0020;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,37;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273|TTN-AS1:100506866;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:100506866|GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:44124|HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN-AS1|TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6048|gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179434137;RS_dbsnp_common_v150_hg19_refseq=,55696153;Read_count=,43;Read_coverage=,85;Read_direction_test_probability=,0.8522399951468901;Read_position_test_probability=,0.84075152340067;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,48;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=2;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.997802|0.00219795;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050328080305040036000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.999;db_xref=,GeneID:100506866|HGNC:HGNC:44124|GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN_antisense_RNA_1|titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN-AS1|TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lncRNA|protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.T49527C:p.Y16509Y,TTN:NM_133432:exon155:c.T49902C:p.Y16634Y,TTN:NM_133437:exon155:c.T50103C:p.Y16701Y,TTN:NM_133378:exon275:c.T69018C:p.Y23006Y,TTN:NM_001256850:exon276:c.T71799C:p.Y23933Y,TTN:NM_001267550:exon326:c.T76722C:p.Y25574Y;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0026;esp6500siv2_ea=0.0036;esp6500siv2_all=0.0026;esp6500siv2_ea=0.0036;1000g2015aug_all=0.000399361;avsnp147=rs55696153;Kaviar_AF=0.0023544;Kaviar_AC=364;Kaviar_AN=154602;ExAC_ALL=0.0023;ExAC_AFR=0.0012;ExAC_AMR=0.0003;ExAC_EAS=0;ExAC_FIN=0.0002;ExAC_NFE=0.0038;ExAC_OTH=0.0011;ExAC_SAS=0.0004;CLNALLELEID=56515;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0021;gnomAD_exome_AFR=0.0009;gnomAD_exome_AMR=0.0003;gnomAD_exome_ASJ=0.0016;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0004;gnomAD_exome_NFE=0.0040;gnomAD_exome_OTH=0.0006;gnomAD_exome_SAS=0.0003;gnomAD_genome_ALL=0.0017;gnomAD_genome_AFR=0.0009;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0009;gnomAD_genome_NFE=0.0027;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . 1:80:0,39 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2 179434516 47347;rs3813243 C T 200.00 . #_unique_end_positions=,52;#_unique_start_positions=,45;AC=6;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0855;AF_ESP_clinvar_20171029_hg19=,0.0339;AF_EXAC_clinvar_20171029_hg19=,0.04127;AF_TGP_clinvar_20171029_hg19=,0.0793;ALLELEID_clinvar_20171029_hg19=,56512;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0418;AN=6;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001243779.1:p.Ser23807Asn|_NP_001254479.2:p.Ser25448Asn|_NP_597681.4:p.Ser16575Asn|_NP_597676.3:p.Ser16508Asn|_NP_003310.4:p.Ser16383Asn|_NP_596869.4:p.Ser22880Asn;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Ser25448Asn;BaseQRankSum=,-0.27;CAF_dbsnp_common_v150_hg19_refseq=,0.9207|0.07927;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1837342|OMIM:608807|Orphanet:ORPHA140922|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1858763|OMIM:604145|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy|_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179434516C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:70306;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.71420G>A|_NM_001267550.2:c.76343G>A|_NM_003319.4:c.49148G>A|_NM_133378.4:c.68639G>A|_NM_133432.3:c.49523G>A|_NM_133437.4:c.49724G>A;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.76343G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1736;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0328;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,60;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273|TTN-AS1:100506866;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:100506866|GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:44124|HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN-AS1|TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6048|gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179434516;RS_dbsnp_common_v150_hg19_refseq=,3813243;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,72;Read_coverage=,123;Read_direction_test_probability=,0.8753405773378444;Read_position_test_probability=,0.760070081454568;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,63;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0481;SF=0,5,15,35,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.950855|0.0491449;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050328080a05150537000101;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.00862069;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.227273;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.267442;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0431034;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:100506866|HGNC:HGNC:44124|GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN_antisense_RNA_1|titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN-AS1|TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lncRNA|protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.G49148A:p.S16383N,TTN:NM_133432:exon155:c.G49523A:p.S16508N,TTN:NM_133437:exon155:c.G49724A:p.S16575N,TTN:NM_133378:exon275:c.G68639A:p.S22880N,TTN:NM_001256850:exon276:c.G71420A:p.S23807N,TTN:NM_001267550:exon326:c.G76343A:p.S25448N;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0339;esp6500siv2_ea=0.0202;esp6500siv2_all=0.0339;esp6500siv2_ea=0.0202;1000g2015aug_all=0.0792732;avsnp147=rs3813243;Kaviar_AF=0.0397602;Kaviar_AC=6147;Kaviar_AN=154602;ExAC_ALL=0.0413;ExAC_AFR=0.0706;ExAC_AMR=0.0299;ExAC_EAS=0.1699;ExAC_FIN=0.0173;ExAC_NFE=0.0222;ExAC_OTH=0.0459;ExAC_SAS=0.0518;CLNALLELEID=56512;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.265;SIFT_pred=T;Polyphen2_HDIV_score=0.801;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.265;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.081;MutationTaster_pred=P;MutationAssessor_score=0.525;MutationAssessor_pred=N;FATHMM_score=1.1;FATHMM_pred=T;PROVEAN_score=-1.86;PROVEAN_pred=N;VEST3_score=0.089;CADD_raw=2.413;CADD_phred=18.91;DANN_score=0.815;fathmm-MKL_coding_score=0.883;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.107;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=5.92;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=20.308;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0413;gnomAD_exome_AFR=0.0700;gnomAD_exome_AMR=0.0314;gnomAD_exome_ASJ=0.0420;gnomAD_exome_EAS=0.1797;gnomAD_exome_FIN=0.0198;gnomAD_exome_NFE=0.0208;gnomAD_exome_OTH=0.0389;gnomAD_exome_SAS=0.0501;gnomAD_genome_ALL=0.0418;gnomAD_genome_AFR=0.0727;gnomAD_genome_AMR=0.0358;gnomAD_genome_ASJ=0.0464;gnomAD_genome_EAS=0.1635;gnomAD_genome_FIN=0.0143;gnomAD_genome_NFE=0.0193;gnomAD_genome_OTH=0.0193;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 1:117:0,68 . . . . 1:73:0,35 . . . . . . . . . 1:95:0,41 . . . . . . . . . . . . . . . . . . . 1:90:0,48 . . . . 1:125:0,41 1:94:0,38 2 179435337 47339;rs6732060 T G 200.00 . #_unique_end_positions=,41;#_unique_start_positions=,38;AC=3;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2405;AF_ESP_clinvar_20171029_hg19=,0.0904;AF_EXAC_clinvar_20171029_hg19=,0.08837;AF_TGP_clinvar_20171029_hg19=,0.1432;ALLELEID_clinvar_20171029_hg19=,56504;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1801;AN=3;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.17;CAF_dbsnp_common_v150_hg19_refseq=,0.8568|.|0.1432;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179435337T>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:26950;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.70599A>C|_NM_001267550.2:c.75522A>C|_NM_003319.4:c.48327A>C|_NM_133378.4:c.67818A>C|_NM_133432.3:c.48702A>C|_NM_133437.4:c.48903A>C;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.75522A>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0258;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0527;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,60;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273|TTN-AS1:100506866;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:100506866|GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,G/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:44124|HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN-AS1|TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6048|gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179435337;RS_dbsnp_common_v150_hg19_refseq=,6732060;Read_count=,61;Read_coverage=,119;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9079618173765261;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,59;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1994;SF=12,17,37;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.876193|.|0.123807;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05032808030515053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.255102;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.039823;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.0365854;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.0352941;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.1875;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.244444;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.204082;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.15035;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.0397727;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.287611;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.587;db_xref=,GeneID:100506866|HGNC:HGNC:44124|GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN_antisense_RNA_1|titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN-AS1|TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lncRNA|protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.A48327C:p.A16109A,TTN:NM_133432:exon155:c.A48702C:p.A16234A,TTN:NM_133437:exon155:c.A48903C:p.A16301A,TTN:NM_133378:exon275:c.A67818C:p.A22606A,TTN:NM_001256850:exon276:c.A70599C:p.A23533A,TTN:NM_001267550:exon326:c.A75522C:p.A25174A;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0904;esp6500siv2_ea=0.0327;esp6500siv2_all=0.0904;esp6500siv2_ea=0.0327;1000g2015aug_all=0.143171;avsnp147=rs6732060;Kaviar_AF=0.0841645;Kaviar_AC=13012;Kaviar_AN=154602;ExAC_ALL=0.0884;ExAC_AFR=0.2244;ExAC_AMR=0.2086;ExAC_EAS=0.0258;ExAC_FIN=0.0592;ExAC_NFE=0.0351;ExAC_OTH=0.0813;ExAC_SAS=0.1830;CLNALLELEID=56504;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0916;gnomAD_exome_AFR=0.2213;gnomAD_exome_AMR=0.2093;gnomAD_exome_ASJ=0.0360;gnomAD_exome_EAS=0.0274;gnomAD_exome_FIN=0.0581;gnomAD_exome_NFE=0.0353;gnomAD_exome_OTH=0.0749;gnomAD_exome_SAS=0.1829;gnomAD_genome_ALL=0.0896;gnomAD_genome_AFR=0.2119;gnomAD_genome_AMR=0.1826;gnomAD_genome_ASJ=0.0298;gnomAD_genome_EAS=0.0281;gnomAD_genome_FIN=0.0532;gnomAD_genome_NFE=0.0307;gnomAD_genome_OTH=0.0704;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 . . . . . . . . . . . . 1:116:0,59 . . . . 1:113:0,50 . . . . . . . . . . . . . . . . . . . 1:96:0,48 . . . . 2 179436020 47329;rs744426 G A 196.32 . #_unique_end_positions=,43;#_unique_start_positions=,37;AC=12;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0666;AF_ESP_clinvar_20171029_hg19=,0.1221;AF_EXAC_clinvar_20171029_hg19=,0.17456;AF_TGP_clinvar_20171029_hg19=,0.2081;ALLELEID_clinvar_20171029_hg19=,56494;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1455;AN=12;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001254479.2:p.Arg24947Cys|_NP_596869.4:p.Arg22379Cys|_NP_597676.3:p.Arg16007Cys|_NP_597681.4:p.Arg16074Cys|_NP_003310.4:p.Arg15882Cys|_NP_001243779.1:p.Arg23306Cys;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Arg24947Cys;BaseQRankSum=,-0.17;CAF_dbsnp_common_v150_hg19_refseq=,0.7919|0.2081;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179436020G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:26975;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.69916C>T|_NM_001267550.2:c.74839C>T|_NM_003319.4:c.47644C>T|_NM_133378.4:c.67135C>T|_NM_133432.3:c.48019C>T|_NM_133437.4:c.48220C>T;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.74839C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4504;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1372;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,41;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273|TTN-AS1:100506866;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:100506866|GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:44124|HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN-AS1|TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6048|gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179436020;RS_dbsnp_common_v150_hg19_refseq=,744426;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,54;Read_coverage=,103;Read_direction_test_probability=,0.9537119914482152;Read_position_test_probability=,0.8401832811442013;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,62;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2669;SF=1,10,14,16,19,20,27,28,29,35,36;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.857614|0.142386;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050328080a0515053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.0816327;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0916667;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.402439;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.369048;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.267045;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.344444;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.366667;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.0333333;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.06;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.0174825;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.136364;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.125;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:100506866|HGNC:HGNC:44124|GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN_antisense_RNA_1|titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN-AS1|TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lncRNA|protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.C47644T:p.R15882C,TTN:NM_133432:exon155:c.C48019T:p.R16007C,TTN:NM_133437:exon155:c.C48220T:p.R16074C,TTN:NM_133378:exon275:c.C67135T:p.R22379C,TTN:NM_001256850:exon276:c.C69916T:p.R23306C,TTN:NM_001267550:exon326:c.C74839T:p.R24947C;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.1221;esp6500siv2_ea=0.1442;esp6500siv2_all=0.1221;esp6500siv2_ea=0.1442;1000g2015aug_all=0.208067;avsnp147=rs744426;Kaviar_AF=0.169823;Kaviar_AC=26255;Kaviar_AN=154602;ExAC_ALL=0.1746;ExAC_AFR=0.0675;ExAC_AMR=0.1489;ExAC_EAS=0.4325;ExAC_FIN=0.1477;ExAC_NFE=0.1448;ExAC_OTH=0.17;ExAC_SAS=0.2541;CLNALLELEID=56494;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.002;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.877;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_pred=.;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=1.95;MutationAssessor_pred=M;FATHMM_score=0.52;FATHMM_pred=T;PROVEAN_score=-5.2;PROVEAN_pred=D;VEST3_score=0.449;CADD_raw=3.394;CADD_phred=23.0;DANN_score=0.854;fathmm-MKL_coding_score=0.932;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.982;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.476;integrated_confidence_value=0;GERP++_RS=4.5;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.999;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=13.659;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1748;gnomAD_exome_AFR=0.0703;gnomAD_exome_AMR=0.1457;gnomAD_exome_ASJ=0.1673;gnomAD_exome_EAS=0.4282;gnomAD_exome_FIN=0.1519;gnomAD_exome_NFE=0.1436;gnomAD_exome_OTH=0.1581;gnomAD_exome_SAS=0.2517;gnomAD_genome_ALL=0.1444;gnomAD_genome_AFR=0.0745;gnomAD_genome_AMR=0.1627;gnomAD_genome_ASJ=0.1159;gnomAD_genome_EAS=0.4355;gnomAD_genome_FIN=0.1465;gnomAD_genome_NFE=0.1528;gnomAD_genome_OTH=0.1684;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 . 1:92:0,48 . . . . . . . . 1:107:0,46 . . . 1:156:0,64 . 1:112:0,55 . . 1/1:100:0,100 1:113:0,53 . . . . . . 1:135:0,67 1:145:0,69 1:112:0,60 . . . . . 1:140:0,63 1:79:0,32 . . . . . 2 179437523 47321;rs189768015 G A 200.00 . #_unique_end_positions=,52;#_unique_start_positions=,47;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0009;AF_EXAC_clinvar_20171029_hg19=,0.00089;AF_TGP_clinvar_20171029_hg19=,0.0012;ALLELEID_clinvar_20171029_hg19=,56486;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0043;AN=1;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.11;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1837342|OMIM:608807|Orphanet:ORPHA140922|MedGen:C1858763|OMIM:604145|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Limb-girdle_muscular_dystrophy|_type_2J|Dilated_cardiomyopathy_1G|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179437523G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;Coding_region_change=,NM_001256850.1:c.68413C>T|_NM_001267550.2:c.73336C>T|_NM_003319.4:c.46141C>T|_NM_133378.4:c.65632C>T|_NM_133432.3:c.46516C>T|_NM_133437.4:c.46717C>T;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.73336C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0030;Exact_match=,clinvar_20171029_hg19|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,68;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:100506866|GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:44124|HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN-AS1|TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6048|gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;Read_count=,81;Read_coverage=,151;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.8825282508001759;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,83;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=13;conservation_score=,0.367;db_xref=,GeneID:100506866|HGNC:HGNC:44124|GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN_antisense_RNA_1|titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN-AS1|TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lncRNA|protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.C46141T:p.L15381L,TTN:NM_133432:exon155:c.C46516T:p.L15506L,TTN:NM_133437:exon155:c.C46717T:p.L15573L,TTN:NM_133378:exon275:c.C65632T:p.L21878L,TTN:NM_001256850:exon276:c.C68413T:p.L22805L,TTN:NM_001267550:exon326:c.C73336T:p.L24446L;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0009;esp6500siv2_ea=0.0007;esp6500siv2_all=0.0009;esp6500siv2_ea=0.0007;1000g2015aug_all=0.00119808;avsnp147=rs189768015;Kaviar_AF=0.000815;Kaviar_AC=126;Kaviar_AN=154602;ExAC_ALL=0.0009;ExAC_AFR=0.0001;ExAC_AMR=0.0025;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0010;ExAC_OTH=0.0011;ExAC_SAS=0.0005;CLNALLELEID=56486;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0010;gnomAD_exome_AFR=6.546e-05;gnomAD_exome_AMR=0.0031;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0010;gnomAD_exome_OTH=0.0017;gnomAD_exome_SAS=0.0006;gnomAD_genome_ALL=0.0005;gnomAD_genome_AFR=0.0002;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0009;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-4 GT:DP:CLCAD2 . . . . . . . . . . . . . 1:137:0,72 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2 179438866 47305;rs10164753 C T 200.00 . #_unique_end_positions=,54;#_unique_start_positions=,41;AC=3;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0877;AF_ESP_clinvar_20171029_hg19=,0.0478;AF_EXAC_clinvar_20171029_hg19=,0.07444;AF_TGP_clinvar_20171029_hg19=,0.0978;ALLELEID_clinvar_20171029_hg19=,56470;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1542;AN=3;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_597681.4:p.Arg15125His|_NP_596869.4:p.Arg21430His|_NP_001243779.1:p.Arg22357His|_NP_003310.4:p.Arg14933His|_NP_597676.3:p.Arg15058His|_NP_001254479.2:p.Arg23998His;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Arg23998His;BaseQRankSum=,-0.17;CAF_dbsnp_common_v150_hg19_refseq=,0.9022|0.09784;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179438866C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:26984;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.67070G>A|_NM_001267550.2:c.71993G>A|_NM_003319.4:c.44798G>A|_NM_133378.4:c.64289G>A|_NM_133432.3:c.45173G>A|_NM_133437.4:c.45374G>A;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.71993G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0258;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0467;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,70;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273|TTN-AS1:100506866;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:100506866|GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:44124|HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN-AS1|TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6048|gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179438866;RS_dbsnp_common_v150_hg19_refseq=,10164753;Read_count=,65;Read_coverage=,144;Read_direction_test_probability=,0.9407292081107244;Read_position_test_probability=,0.9325532089081935;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,74;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1984;SF=12,17,37;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.93856|0.0614397;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128080a05150537000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.0520833;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0357143;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.0365854;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.0352941;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.189655;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.0955056;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.153061;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.0780142;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.0284091;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0669643;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:100506866|HGNC:HGNC:44124|GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN_antisense_RNA_1|titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN-AS1|TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lncRNA|protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.G44798A:p.R14933H,TTN:NM_133432:exon155:c.G45173A:p.R15058H,TTN:NM_133437:exon155:c.G45374A:p.R15125H,TTN:NM_133378:exon275:c.G64289A:p.R21430H,TTN:NM_001256850:exon276:c.G67070A:p.R22357H,TTN:NM_001267550:exon326:c.G71993A:p.R23998H;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0478;esp6500siv2_ea=0.0292;esp6500siv2_all=0.0478;esp6500siv2_ea=0.0292;1000g2015aug_all=0.0978435;avsnp147=rs10164753;Kaviar_AF=0.0704842;Kaviar_AC=10897;Kaviar_AN=154602;ExAC_ALL=0.0744;ExAC_AFR=0.0803;ExAC_AMR=0.2019;ExAC_EAS=0.0259;ExAC_FIN=0.0590;ExAC_NFE=0.0326;ExAC_OTH=0.0713;ExAC_SAS=0.1820;CLNALLELEID=56470;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.004;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=3.995;MutationAssessor_pred=H;FATHMM_score=0.67;FATHMM_pred=T;PROVEAN_score=-3.78;PROVEAN_pred=D;VEST3_score=0.648;CADD_raw=4.024;CADD_phred=23.6;DANN_score=0.919;fathmm-MKL_coding_score=0.987;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.659;MetaSVM_pred=T;MetaLR_score=0.011;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.58;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=19.546;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0798;gnomAD_exome_AFR=0.0787;gnomAD_exome_AMR=0.2006;gnomAD_exome_ASJ=0.0306;gnomAD_exome_EAS=0.0275;gnomAD_exome_FIN=0.0579;gnomAD_exome_NFE=0.0326;gnomAD_exome_OTH=0.0663;gnomAD_exome_SAS=0.1815;gnomAD_genome_ALL=0.0510;gnomAD_genome_AFR=0.0808;gnomAD_genome_AMR=0.1719;gnomAD_genome_ASJ=0.0265;gnomAD_genome_EAS=0.0288;gnomAD_genome_FIN=0.0529;gnomAD_genome_NFE=0.0286;gnomAD_genome_OTH=0.0611;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 . . . . . . . . . . . . 1:136:0,64 . . . . 1:144:0,69 . . . . . . . . . . . . . . . . . . . 1:114:0,49 . . . . 2 179439877 404816 G A 200.00 . #_unique_end_positions=,51;#_unique_start_positions=,47;AC=1;ALLELEID_clinvar_20171029_hg19=,391768;AN=1;Amino_acid_change=,NP_001254479.2:p.Pro23661Leu|_NP_597681.4:p.Pro14788Leu|_NP_596869.4:p.Pro21093Leu|_NP_001243779.1:p.Pro22020Leu|_NP_003310.4:p.Pro14596Leu|_NP_597676.3:p.Pro14721Leu;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Pro23661Leu;BaseQRankSum=,-0.42;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1837342|OMIM:608807|Orphanet:ORPHA140922|MedGen:C1858763|OMIM:604145;CLNDN_clinvar_20171029_hg19=,Limb-girdle_muscular_dystrophy|_type_2J|Dilated_cardiomyopathy_1G;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179439877G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_single_submitter;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;Coding_region_change=,NM_001256850.1:c.66059C>T|_NM_001267550.2:c.70982C>T|_NM_003319.4:c.43787C>T|_NM_133378.4:c.63278C>T|_NM_133432.3:c.44162C>T|_NM_133437.4:c.44363C>T;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.70982C>T;Exact_match=,clinvar_20171029_hg19;Forward_read_coverage=,94;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:100506866|GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:44124|HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN-AS1|TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6048|gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;Read_count=,81;Read_coverage=,159;Read_direction_test_probability=,0.9790917384269834;Read_position_test_probability=,0.6123965330628158;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,65;SF=27;conservation_score=,0.998;db_xref=,GeneID:100506866|HGNC:HGNC:44124|GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN_antisense_RNA_1|titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN-AS1|TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lncRNA|protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.C43787T:p.P14596L,TTN:NM_133432:exon155:c.C44162T:p.P14721L,TTN:NM_133437:exon155:c.C44363T:p.P14788L,TTN:NM_133378:exon275:c.C63278T:p.P21093L,TTN:NM_001256850:exon276:c.C66059T:p.P22020L,TTN:NM_001267550:exon326:c.C70982T:p.P23661L;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=391768;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.002;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=3.655;MutationAssessor_pred=H;FATHMM_score=-0.85;FATHMM_pred=T;PROVEAN_score=-7.32;PROVEAN_pred=D;VEST3_score=0.493;CADD_raw=2.456;CADD_phred=19.18;DANN_score=0.754;fathmm-MKL_coding_score=0.993;fathmm-MKL_coding_pred=D;MetaSVM_score=0.654;MetaSVM_pred=D;MetaLR_score=0.715;MetaLR_pred=D;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.6;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.990;phastCons20way_mammalian=0.900;SiPhy_29way_logOdds=19.603;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.109e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=9.09e-06;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=7 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:152:0,76 . . . . . . . . . . . . . . 2 179440029 47293;rs12464787 G A 195.06 . #_unique_end_positions=,42;#_unique_start_positions=,38;AC=21;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0779;AF_ESP_clinvar_20171029_hg19=,0.2386;AF_EXAC_clinvar_20171029_hg19=,0.23999;AF_TGP_clinvar_20171029_hg19=,0.1466;ALLELEID_clinvar_20171029_hg19=,56458;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1167;AN=21;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.32;CAF_dbsnp_common_v150_hg19_refseq=,0.8534|0.1466|.;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179440029G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:26800;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.65907C>T|_NM_001267550.2:c.70830C>T|_NM_003319.4:c.43635C>T|_NM_133378.4:c.63126C>T|_NM_133432.3:c.44010C>T|_NM_133437.4:c.44211C>T;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.70830C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0417;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3052;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,71;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273|TTN-AS1:100506866;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:100506866|GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:44124|HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN-AS1|TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6048|gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179440029;RS_dbsnp_common_v150_hg19_refseq=,12464787;Read_count=,79;Read_coverage=,176;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9959756361654776;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,105;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2055;SF=0,2,4,5,6,7,10,11,17,23,26,31,32,33,36,38,39;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.795831|0.204169|.;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05012808030515053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.112245;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.353982;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.097561;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.0294118;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.238636;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0116279;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0348837;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.0555556;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.122378;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.227273;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0840708;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.788;db_xref=,GeneID:100506866|HGNC:HGNC:44124|GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN_antisense_RNA_1|titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN-AS1|TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lncRNA|protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.C43635T:p.S14545S,TTN:NM_133432:exon155:c.C44010T:p.S14670S,TTN:NM_133437:exon155:c.C44211T:p.S14737S,TTN:NM_133378:exon275:c.C63126T:p.S21042S,TTN:NM_001256850:exon276:c.C65907T:p.S21969S,TTN:NM_001267550:exon326:c.C70830T:p.S23610S;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.2386;esp6500siv2_ea=0.2975;esp6500siv2_all=0.2386;esp6500siv2_ea=0.2975;1000g2015aug_all=0.146565;avsnp147=rs12464787;Kaviar_AF=0.237216;Kaviar_AC=36674;Kaviar_AN=154602;ExAC_ALL=0.2400;ExAC_AFR=0.1184;ExAC_AMR=0.0989;ExAC_EAS=0.0445;ExAC_FIN=0.3985;ExAC_NFE=0.2979;ExAC_OTH=0.2550;ExAC_SAS=0.2117;CLNALLELEID=56458;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2372;gnomAD_exome_AFR=0.1194;gnomAD_exome_AMR=0.1117;gnomAD_exome_ASJ=0.1998;gnomAD_exome_EAS=0.0448;gnomAD_exome_FIN=0.3818;gnomAD_exome_NFE=0.3020;gnomAD_exome_OTH=0.2326;gnomAD_exome_SAS=0.2141;gnomAD_genome_ALL=0.2523;gnomAD_genome_AFR=0.1225;gnomAD_genome_AMR=0.1348;gnomAD_genome_ASJ=0.1921;gnomAD_genome_EAS=0.0497;gnomAD_genome_FIN=0.3892;gnomAD_genome_NFE=0.3216;gnomAD_genome_OTH=0.3020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 1:153:0,66 . 1/1:197:0,197 . 1:139:0,48 1:149:0,61 1:128:0,61 1/1:171:0,171 . . 1:201:0,102 1:208:0,88 . . . . . 1:185:0,84 . . . . . 1:217:0,117 . . 1/1:190:0,190 . . . . 1:118:0,67 1:129:0,56 1/1:170:0,170 . . 1:140:0,64 . 1:143:0,54 1:176:0,81 . . 2 179440163 47290;rs55801134 C G 200.00 . #_unique_end_positions=,64;#_unique_start_positions=,58;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0114;AF_EXAC_clinvar_20171029_hg19=,0.01065;AF_TGP_clinvar_20171029_hg19=,0.0044;ALLELEID_clinvar_20171029_hg19=,56455;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0058;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_597681.4:p.Gly14693Arg|_NP_003310.4:p.Gly14501Arg|_NP_596869.4:p.Gly20998Arg|_NP_597676.3:p.Gly14626Arg|_NP_001254479.2:p.Gly23566Arg|_NP_001243779.1:p.Gly21925Arg;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Gly23566Arg;BaseQRankSum=,-0.1;CAF_dbsnp_common_v150_hg19_refseq=,0.9956|0.004393;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1837342|OMIM:608807|Orphanet:ORPHA140922|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1858763|OMIM:604145|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy|_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179440163C>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:101276;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.65773G>C|_NM_001267550.2:c.70696G>C|_NM_003319.4:c.43501G>C|_NM_133378.4:c.62992G>C|_NM_133432.3:c.43876G>C|_NM_133437.4:c.44077G>C;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.70696G>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0169;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,130;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273|TTN-AS1:100506866;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:100506866|GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,C/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:44124|HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN-AS1|TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6048|gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179440163;RS_dbsnp_common_v150_hg19_refseq=,55801134;Read_count=,116;Read_coverage=,219;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9981658993093195;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,89;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;SF=26;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.992994|0.00700598;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050028080a05040436000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.999;db_xref=,GeneID:100506866|HGNC:HGNC:44124|GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN_antisense_RNA_1|titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN-AS1|TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lncRNA|protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.G43501C:p.G14501R,TTN:NM_133432:exon155:c.G43876C:p.G14626R,TTN:NM_133437:exon155:c.G44077C:p.G14693R,TTN:NM_133378:exon275:c.G62992C:p.G20998R,TTN:NM_001256850:exon276:c.G65773C:p.G21925R,TTN:NM_001267550:exon326:c.G70696C:p.G23566R;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0114;esp6500siv2_ea=0.0161;esp6500siv2_all=0.0114;esp6500siv2_ea=0.0161;1000g2015aug_all=0.00439297;avsnp147=rs55801134;Kaviar_AF=0.0103039;Kaviar_AC=1593;Kaviar_AN=154602;ExAC_ALL=0.0106;ExAC_AFR=0.0014;ExAC_AMR=0.0027;ExAC_EAS=0;ExAC_FIN=0.0533;ExAC_NFE=0.0126;ExAC_OTH=0.0111;ExAC_SAS=0.0021;CLNALLELEID=56455;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.004;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=1.0;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.58;MutationAssessor_pred=M;FATHMM_score=0.19;FATHMM_pred=T;PROVEAN_score=-5.52;PROVEAN_pred=D;VEST3_score=0.613;CADD_raw=2.942;CADD_phred=22.0;DANN_score=0.950;fathmm-MKL_coding_score=0.990;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.238;MetaSVM_pred=T;MetaLR_score=0.290;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.6;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.892;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=19.612;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM1516173#"Cardiomyopathy_dilated";gnomAD_exome_ALL=0.0118;gnomAD_exome_AFR=0.0020;gnomAD_exome_AMR=0.0029;gnomAD_exome_ASJ=0.0126;gnomAD_exome_EAS=5.824e-05;gnomAD_exome_FIN=0.0516;gnomAD_exome_NFE=0.0124;gnomAD_exome_OTH=0.0097;gnomAD_exome_SAS=0.0020;gnomAD_genome_ALL=0.0149;gnomAD_genome_AFR=0.0025;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0.0132;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0492;gnomAD_genome_NFE=0.0160;gnomAD_genome_OTH=0.0214;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . 1:190:0,101 . . . . . . . . . . . . . . . 2 179440182 47289;rs72646890 A G 200.00 . #_unique_end_positions=,57;#_unique_start_positions=,46;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0038;AF_EXAC_clinvar_20171029_hg19=,0.00278;AF_TGP_clinvar_20171029_hg19=,0.0006;ALLELEID_clinvar_20171029_hg19=,56454;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0014;AN=1;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.47;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1837342|OMIM:608807|Orphanet:ORPHA140922|MedGen:C1858763|OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNDN_clinvar_20171029_hg19=,Limb-girdle_muscular_dystrophy|_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179440182A>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;Coding_region_change=,NM_001256850.1:c.65754T>C|_NM_001267550.2:c.70677T>C|_NM_003319.4:c.43482T>C|_NM_133378.4:c.62973T>C|_NM_133432.3:c.43857T>C|_NM_133437.4:c.44058T>C;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.70677T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;Exact_match=,clinvar_20171029_hg19|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,106;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:100506866|GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:44124|HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN-AS1|TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6048|gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;Read_count=,98;Read_coverage=,190;Read_direction_test_probability=,0.9995744863931834;Read_position_test_probability=,0.20047412971009448;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,84;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;SF=15;conservation_score=,0.892;db_xref=,GeneID:100506866|HGNC:HGNC:44124|GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN_antisense_RNA_1|titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN-AS1|TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lncRNA|protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.T43482C:p.D14494D,TTN:NM_133432:exon155:c.T43857C:p.D14619D,TTN:NM_133437:exon155:c.T44058C:p.D14686D,TTN:NM_133378:exon275:c.T62973C:p.D20991D,TTN:NM_001256850:exon276:c.T65754C:p.D21918D,TTN:NM_001267550:exon326:c.T70677C:p.D23559D;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0037;esp6500siv2_ea=0.0051;esp6500siv2_all=0.0037;esp6500siv2_ea=0.0051;1000g2015aug_all=0.000599042;avsnp147=rs72646890;Kaviar_AF=0.0029042;Kaviar_AC=449;Kaviar_AN=154602;ExAC_ALL=0.0028;ExAC_AFR=0.0004;ExAC_AMR=0.0007;ExAC_EAS=0;ExAC_FIN=0.0005;ExAC_NFE=0.0044;ExAC_OTH=0.0011;ExAC_SAS=0.0016;CLNALLELEID=56454;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0024;gnomAD_exome_AFR=0.0004;gnomAD_exome_AMR=0.0011;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0004;gnomAD_exome_NFE=0.0043;gnomAD_exome_OTH=0.0028;gnomAD_exome_SAS=0.0014;gnomAD_genome_ALL=0.0038;gnomAD_genome_AFR=0.0007;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0006;gnomAD_genome_NFE=0.0070;gnomAD_genome_OTH=0.0031;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-4 GT:DP:CLCAD2 . . . . . . . . . . . . . . . 1:174:0,94 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 179441038 47277;rs201043950 C T 200.00 . #_unique_end_positions=,49;#_unique_start_positions=,39;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0016;AF_EXAC_clinvar_20171029_hg19=,0.00104;AF_TGP_clinvar_20171029_hg19=,0.0002;ALLELEID_clinvar_20171029_hg19=,56442;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0014;AN=1;Amino_acid_change=,NP_597676.3:p.Gly14334Asp|_NP_001254479.2:p.Gly23274Asp|_NP_003310.4:p.Gly14209Asp|_NP_596869.4:p.Gly20706Asp|_NP_597681.4:p.Gly14401Asp|_NP_001243779.1:p.Gly21633Asp;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Gly23274Asp;BaseQRankSum=,-0.58;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1837342|OMIM:608807|Orphanet:ORPHA140922|MedGen:C1858763|OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNDN_clinvar_20171029_hg19=,Limb-girdle_muscular_dystrophy|_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179441038C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_conflicting_interpretations;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;Coding_region_change=,NM_001256850.1:c.64898G>A|_NM_001267550.2:c.69821G>A|_NM_003319.4:c.42626G>A|_NM_133378.4:c.62117G>A|_NM_133432.3:c.43001G>A|_NM_133437.4:c.43202G>A;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.69821G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;Exact_match=,clinvar_20171029_hg19|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,49;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:100506866|GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:44124|HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN-AS1|TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6048|gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;Read_count=,74;Read_coverage=,141;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.96986289382998;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,92;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=28;conservation_score=,0.976;db_xref=,GeneID:100506866|HGNC:HGNC:44124|GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN_antisense_RNA_1|titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN-AS1|TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lncRNA|protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.G42626A:p.G14209D,TTN:NM_133432:exon155:c.G43001A:p.G14334D,TTN:NM_133437:exon155:c.G43202A:p.G14401D,TTN:NM_133378:exon275:c.G62117A:p.G20706D,TTN:NM_001256850:exon276:c.G64898A:p.G21633D,TTN:NM_001267550:exon326:c.G69821A:p.G23274D;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0016;esp6500siv2_ea=0.0023;esp6500siv2_all=0.0016;esp6500siv2_ea=0.0023;1000g2015aug_all=0.000199681;avsnp147=rs201043950;Kaviar_AF=0.001009;Kaviar_AC=156;Kaviar_AN=154602;ExAC_ALL=0.0010;ExAC_AFR=0;ExAC_AMR=0.0006;ExAC_EAS=0;ExAC_FIN=0.0005;ExAC_NFE=0.0017;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=56442;CLNDN=Inborn_genetic_diseases|Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D030342,MedGen:C0950123|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.01;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=1.0;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.895;MutationAssessor_pred=M;FATHMM_score=0.14;FATHMM_pred=T;PROVEAN_score=-5.15;PROVEAN_pred=D;VEST3_score=0.746;CADD_raw=1.904;CADD_phred=15.61;DANN_score=0.724;fathmm-MKL_coding_score=0.988;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.013;MetaSVM_pred=T;MetaLR_score=0.474;MetaLR_pred=T;integrated_fitCons_score=0.651;integrated_confidence_value=0;GERP++_RS=5.87;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.997;phastCons20way_mammalian=0.421;SiPhy_29way_logOdds=20.218;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0012;gnomAD_exome_AFR=0.0002;gnomAD_exome_AMR=0.0006;gnomAD_exome_ASJ=0.0006;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0009;gnomAD_exome_NFE=0.0021;gnomAD_exome_OTH=0.0005;gnomAD_exome_SAS=4.511e-05;gnomAD_genome_ALL=0.0014;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0014;gnomAD_genome_NFE=0.0022;gnomAD_genome_OTH=0.0041;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:133:0,69 . . . . . . . . . . . . . 2 179441295 47275;rs72646885 T C 200.00 . #_unique_end_positions=,49;#_unique_start_positions=,39;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0066;AF_EXAC_clinvar_20171029_hg19=,0.00752;AF_TGP_clinvar_20171029_hg19=,0.0030;ALLELEID_clinvar_20171029_hg19=,56440;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0086;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001254479.2:p.Ser23226Gly|_NP_597681.4:p.Ser14353Gly|_NP_003310.4:p.Ser14161Gly|_NP_001243779.1:p.Ser21585Gly|_NP_596869.4:p.Ser20658Gly|_NP_597676.3:p.Ser14286Gly;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Ser23226Gly;BaseQRankSum=,-0.31;CAF_dbsnp_common_v150_hg19_refseq=,0.997|0.002995;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1837342|OMIM:608807|Orphanet:ORPHA140922|MedGen:C1858763|OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNDN_clinvar_20171029_hg19=,Limb-girdle_muscular_dystrophy|_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179441295T>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.64753A>G|_NM_001267550.2:c.69676A>G|_NM_003319.4:c.42481A>G|_NM_133378.4:c.61972A>G|_NM_133432.3:c.42856A>G|_NM_133437.4:c.43057A>G;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.69676A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0060;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,69;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273|TTN-AS1:100506866;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:100506866|GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:44124|HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN-AS1|TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6048|gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179441295;RS_dbsnp_common_v150_hg19_refseq=,72646885;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,63;Read_coverage=,126;Read_direction_test_probability=,0.9312290557603189;Read_position_test_probability=,0.9243708263687895;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,57;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0031;SF=24;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.994093|0.005907;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128080a05040436000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.597;db_xref=,GeneID:100506866|HGNC:HGNC:44124|GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN_antisense_RNA_1|titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN-AS1|TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lncRNA|protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon153:c.A42481G:p.S14161G,TTN:NM_133432:exon154:c.A42856G:p.S14286G,TTN:NM_133437:exon154:c.A43057G:p.S14353G,TTN:NM_133378:exon274:c.A61972G:p.S20658G,TTN:NM_001256850:exon275:c.A64753G:p.S21585G,TTN:NM_001267550:exon325:c.A69676G:p.S23226G;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0066;esp6500siv2_ea=0.0092;esp6500siv2_all=0.0066;esp6500siv2_ea=0.0092;1000g2015aug_all=0.00299521;avsnp147=rs72646885;Kaviar_AF=0.0073091;Kaviar_AC=1130;Kaviar_AN=154602;ExAC_ALL=0.0075;ExAC_AFR=0.0014;ExAC_AMR=0.0047;ExAC_EAS=0;ExAC_FIN=0.0018;ExAC_NFE=0.0095;ExAC_OTH=0.0111;ExAC_SAS=0.0110;CLNALLELEID=56440;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.008;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.992;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=2.955;MutationAssessor_pred=M;FATHMM_score=-0.51;FATHMM_pred=T;PROVEAN_score=-2.99;PROVEAN_pred=D;VEST3_score=0.312;CADD_raw=1.439;CADD_phred=12.99;DANN_score=0.838;fathmm-MKL_coding_score=0.971;fathmm-MKL_coding_pred=D;MetaSVM_score=0.109;MetaSVM_pred=D;MetaLR_score=0.478;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=4.57;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=1.061;phastCons7way_vertebrate=0.959;phastCons20way_mammalian=0.933;SiPhy_29way_logOdds=11.877;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0076;gnomAD_exome_AFR=0.0012;gnomAD_exome_AMR=0.0045;gnomAD_exome_ASJ=0.0291;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0024;gnomAD_exome_NFE=0.0085;gnomAD_exome_OTH=0.0112;gnomAD_exome_SAS=0.0116;gnomAD_genome_ALL=0.0048;gnomAD_genome_AFR=0.0008;gnomAD_genome_AMR=0.0084;gnomAD_genome_ASJ=0.0331;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0017;gnomAD_genome_NFE=0.0074;gnomAD_genome_OTH=0.0061;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-5 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . 1:114:0,59 . . . . . . . . . . . . . . . . . 2 179441386 47274;rs67041405 G A 200.00 . #_unique_end_positions=,33;#_unique_start_positions=,33;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0096;AF_EXAC_clinvar_20171029_hg19=,0.01208;AF_TGP_clinvar_20171029_hg19=,0.0030;ALLELEID_clinvar_20171029_hg19=,56439;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0029;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.23;CAF_dbsnp_common_v150_hg19_refseq=,0.997|0.002995;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1837342|OMIM:608807|Orphanet:ORPHA140922|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1858763|OMIM:604145|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy|_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179441386G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:101211;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.64662C>T|_NM_001267550.2:c.69585C>T|_NM_003319.4:c.42390C>T|_NM_133378.4:c.61881C>T|_NM_133432.3:c.42765C>T|_NM_133437.4:c.42966C>T;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.69585C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0109;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,61;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273|TTN-AS1:100506866;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:100506866|GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:44124|HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN-AS1|TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6048|gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179441386;RS_dbsnp_common_v150_hg19_refseq=,67041405;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,53;Read_coverage=,100;Read_direction_test_probability=,0.9998119656652442;Read_position_test_probability=,0.9939545036944509;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,39;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0020;SF=41;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.993303|0.00669689;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05002808030504043e000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.001;db_xref=,GeneID:100506866|HGNC:HGNC:44124|GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN_antisense_RNA_1|titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN-AS1|TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lncRNA|protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon153:c.C42390T:p.S14130S,TTN:NM_133432:exon154:c.C42765T:p.S14255S,TTN:NM_133437:exon154:c.C42966T:p.S14322S,TTN:NM_133378:exon274:c.C61881T:p.S20627S,TTN:NM_001256850:exon275:c.C64662T:p.S21554S,TTN:NM_001267550:exon325:c.C69585T:p.S23195S;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0096;esp6500siv2_ea=0.0130;esp6500siv2_all=0.0096;esp6500siv2_ea=0.0130;1000g2015aug_all=0.00299521;avsnp147=rs67041405;Kaviar_AF=0.0110865;Kaviar_AC=1714;Kaviar_AN=154602;ExAC_ALL=0.0121;ExAC_AFR=0.0015;ExAC_AMR=0.0015;ExAC_EAS=0;ExAC_FIN=0.0440;ExAC_NFE=0.0162;ExAC_OTH=0.01;ExAC_SAS=0.0026;CLNALLELEID=56439;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0119;gnomAD_exome_AFR=0.0016;gnomAD_exome_AMR=0.0024;gnomAD_exome_ASJ=0.0019;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0418;gnomAD_exome_NFE=0.0157;gnomAD_exome_OTH=0.0099;gnomAD_exome_SAS=0.0023;gnomAD_genome_ALL=0.0166;gnomAD_genome_AFR=0.0022;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0435;gnomAD_genome_NFE=0.0214;gnomAD_genome_OTH=0.0193;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:88:0,48 2 179443540 47263;rs10497517 A G 200.00 . #_unique_end_positions=,35;#_unique_start_positions=,23;AC=3;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2163;AF_ESP_clinvar_20171029_hg19=,0.0838;AF_EXAC_clinvar_20171029_hg19=,0.08677;AF_TGP_clinvar_20171029_hg19=,0.1360;ALLELEID_clinvar_20171029_hg19=,56428;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1744;AN=3;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.864|0.136;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179443540A>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:27001;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.63294T>C|_NM_001267550.2:c.68217T>C|_NM_003319.4:c.41022T>C|_NM_133378.4:c.60513T>C|_NM_133432.3:c.41397T>C|_NM_133437.4:c.41598T>C;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.68217T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0258;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0527;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,54;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273|TTN-AS1:100506866;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:100506866|GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:44124|HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN-AS1|TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6048|gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179443540;RS_dbsnp_common_v150_hg19_refseq=,10497517;Read_count=,46;Read_coverage=,101;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9814767559244933;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,47;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1994;SF=12,17,37;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.884161|0.115839;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05012808030515053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.22449;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.039823;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.0365854;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.0352941;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.1875;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.238889;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.19;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.15035;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.0397727;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.252212;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:100506866|HGNC:HGNC:44124|GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN_antisense_RNA_1|titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN-AS1|TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lncRNA|protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon148:c.T41022C:p.H13674H,TTN:NM_133432:exon149:c.T41397C:p.H13799H,TTN:NM_133437:exon149:c.T41598C:p.H13866H,TTN:NM_133378:exon269:c.T60513C:p.H20171H,TTN:NM_001256850:exon270:c.T63294C:p.H21098H,TTN:NM_001267550:exon320:c.T68217C:p.H22739H;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0838;esp6500siv2_ea=0.0327;esp6500siv2_all=0.0838;esp6500siv2_ea=0.0327;1000g2015aug_all=0.135982;avsnp147=rs10497517;Kaviar_AF=0.0825474;Kaviar_AC=12762;Kaviar_AN=154602;ExAC_ALL=0.0868;ExAC_AFR=0.2021;ExAC_AMR=0.2105;ExAC_EAS=0.0259;ExAC_FIN=0.0591;ExAC_NFE=0.0351;ExAC_OTH=0.08;ExAC_SAS=0.1832;CLNALLELEID=56428;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0447;dpsi_zscore=-0.241;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0900;gnomAD_exome_AFR=0.1987;gnomAD_exome_AMR=0.2097;gnomAD_exome_ASJ=0.0361;gnomAD_exome_EAS=0.0275;gnomAD_exome_FIN=0.0581;gnomAD_exome_NFE=0.0353;gnomAD_exome_OTH=0.0742;gnomAD_exome_SAS=0.1833;gnomAD_genome_ALL=0.0843;gnomAD_genome_AFR=0.1930;gnomAD_genome_AMR=0.1814;gnomAD_genome_ASJ=0.0298;gnomAD_genome_EAS=0.0281;gnomAD_genome_FIN=0.0529;gnomAD_genome_NFE=0.0309;gnomAD_genome_OTH=0.0695;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 . . . . . . . . . . . . 1:98:0,45 . . . . 1:82:0,39 . . . . . . . . . . . . . . . . . . . 1:105:0,44 . . . . 2 179444051 202813;rs185620750 C T 200.00 . #_unique_end_positions=,33;#_unique_start_positions=,27;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_EXAC_clinvar_20171029_hg19=,0.00007;AF_TGP_clinvar_20171029_hg19=,0.0002;ALLELEID_clinvar_20171029_hg19=,199086;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0014;AN=1;Amino_acid_change=,NP_001243779.1:p.Arg20928Gln|_NP_597676.3:p.Arg13629Gln|_NP_003310.4:p.Arg13504Gln|_NP_597681.4:p.Arg13696Gln|_NP_001254479.2:p.Arg22569Gln|_NP_596869.4:p.Arg20001Gln;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Arg22569Gln;BaseQRankSum=,-0.07;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1837342|OMIM:608807|Orphanet:ORPHA140922|MedGen:C1858763|OMIM:604145|MedGen:CN169374|MedGen:CN517202;CLNDN_clinvar_20171029_hg19=,Limb-girdle_muscular_dystrophy|_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179444051C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;Coding_region_change=,NM_001256850.1:c.62783G>A|_NM_001267550.2:c.67706G>A|_NM_003319.4:c.40511G>A|_NM_133378.4:c.60002G>A|_NM_133432.3:c.40886G>A|_NM_133437.4:c.41087G>A;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.67706G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;Exact_match=,clinvar_20171029_hg19|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,66;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:100506866|GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:44124|HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN-AS1|TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6048|gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;Read_count=,51;Read_coverage=,125;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.6996752695886747;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,59;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=17;conservation_score=,1.0;db_xref=,GeneID:100506866|HGNC:HGNC:44124|GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN_antisense_RNA_1|titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN-AS1|TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lncRNA|protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon148:c.G40511A:p.R13504Q,TTN:NM_133432:exon149:c.G40886A:p.R13629Q,TTN:NM_133437:exon149:c.G41087A:p.R13696Q,TTN:NM_133378:exon269:c.G60002A:p.R20001Q,TTN:NM_001256850:exon270:c.G62783A:p.R20928Q,TTN:NM_001267550:exon320:c.G67706A:p.R22569Q;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.000199681;avsnp147=rs185620750;Kaviar_AF=0.0001294;Kaviar_AC=20;Kaviar_AN=154602;ExAC_ALL=6.765e-05;ExAC_AFR=0;ExAC_AMR=0.0005;ExAC_EAS=0.0001;ExAC_FIN=0;ExAC_NFE=0;ExAC_OTH=0;ExAC_SAS=6.495e-05;CLNALLELEID=199086;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.069;SIFT_pred=T;Polyphen2_HDIV_score=0.997;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.872;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=1.65;MutationAssessor_pred=L;FATHMM_score=0.97;FATHMM_pred=T;PROVEAN_score=-2.52;PROVEAN_pred=D;VEST3_score=0.477;CADD_raw=4.138;CADD_phred=23.8;DANN_score=0.957;fathmm-MKL_coding_score=0.909;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.808;MetaSVM_pred=T;MetaLR_score=0.193;MetaLR_pred=T;integrated_fitCons_score=0.563;integrated_confidence_value=0;GERP++_RS=5.68;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=0.988;SiPhy_29way_logOdds=15.318;GDI_full_10282015=.;dpsi_max_tissue=-0.0726;dpsi_zscore=-0.358;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0002;gnomAD_exome_AFR=6.557e-05;gnomAD_exome_AMR=0.0010;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=6.572e-05;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . 1:113:0,45 . . . . . . . . . . . . . . . . . . . . . . . . 2 179444768 47250;rs4145333 C G 187.08 . #_unique_end_positions=,76;#_unique_start_positions=,61;AC=84;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9811;ALLELEID_clinvar_20171029_hg19=,56415;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9971;AN=84;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_596869.4:p.Ala19848Pro|_NP_001254479.2:p.Ala22416Pro|_NP_003310.4:p.Ala13351Pro|_NP_597676.3:p.Ala13476Pro|_NP_597681.4:p.Ala13543Pro|_NP_001243779.1:p.Ala20775Pro;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Ala22416Pro;CAF_dbsnp_common_v150_hg19_refseq=,0.005391|0.9946;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179444768C>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:26820;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.62323G>C|_NM_001267550.2:c.67246G>C|_NM_003319.4:c.40051G>C|_NM_133378.4:c.59542G>C|_NM_133432.3:c.40426G>C|_NM_133437.4:c.40627G>C;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.67246G>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,1.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,1.0000;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,48;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273|TTN-AS1:100506866;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:100506866|GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,G/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:44124|HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN-AS1|TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6048|gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179444768;RS_dbsnp_common_v150_hg19_refseq=,4145333;Read_count=,115;Read_coverage=,115;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,67;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,1.0000;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.00679992|0.9932;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050328080a0504053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.966102;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,1;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,1;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.983051;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.004;db_xref=,GeneID:100506866|HGNC:HGNC:44124|GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN_antisense_RNA_1|titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN-AS1|TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lncRNA|protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon146:c.G40051C:p.A13351P,TTN:NM_133432:exon147:c.G40426C:p.A13476P,TTN:NM_133437:exon147:c.G40627C:p.A13543P,TTN:NM_133378:exon267:c.G59542C:p.A19848P,TTN:NM_001256850:exon268:c.G62323C:p.A20775P,TTN:NM_001267550:exon318:c.G67246C:p.A22416P;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.9956;esp6500siv2_ea=0.9999;esp6500siv2_all=0.9956;esp6500siv2_ea=0.9999;1000g2015aug_all=0.994609;avsnp147=rs4145333;Kaviar_AF=0.947562;Kaviar_AC=146495;Kaviar_AN=154602;ExAC_ALL=0.9986;ExAC_AFR=0.9862;ExAC_AMR=0.9988;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9997;ExAC_OTH=1;ExAC_SAS=1;CLNALLELEID=56415;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.371;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.71;MutationAssessor_pred=N;FATHMM_score=0.46;FATHMM_pred=T;PROVEAN_score=0.24;PROVEAN_pred=N;VEST3_score=0.076;CADD_raw=-0.011;CADD_phred=2.486;DANN_score=0.804;fathmm-MKL_coding_score=0.111;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.003;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=1.82;phyloP7way_vertebrate=-0.367;phyloP20way_mammalian=-0.642;phastCons7way_vertebrate=0.965;phastCons20way_mammalian=0.829;SiPhy_29way_logOdds=0.542;GDI_full_10282015=.;dpsi_max_tissue=0.3043;dpsi_zscore=0.898;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.9987;gnomAD_exome_AFR=0.9849;gnomAD_exome_AMR=0.9988;gnomAD_exome_ASJ=1;gnomAD_exome_EAS=1;gnomAD_exome_FIN=1;gnomAD_exome_NFE=0.9997;gnomAD_exome_OTH=0.9993;gnomAD_exome_SAS=1;gnomAD_genome_ALL=0.9969;gnomAD_genome_AFR=0.9895;gnomAD_genome_AMR=0.9988;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=1;gnomAD_genome_FIN=1;gnomAD_genome_NFE=0.9999;gnomAD_genome_OTH=0.9990;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 1/1:103:0,103 1/1:77:0,77 1/1:88:0,88 1/1:90:0,90 1/1:75:0,75 1/1:67:0,67 1/1:54:0,54 1/1:67:0,67 1/1:82:0,82 1/1:69:0,69 1/1:84:0,84 1/1:56:0,56 1/1:82:0,82 1/1:60:0,60 1/1:113:0,113 1/1:87:0,87 1/1:83:0,83 1/1:78:0,78 1/1:79:0,79 1/1:73:0,73 1/1:89:0,89 1/1:99:0,99 1/1:95:0,95 1/1:80:0,80 1/1:83:0,83 1/1:72:0,72 1/1:92:0,92 1/1:99:0,99 1/1:104:0,104 1/1:78:0,78 1/1:75:0,75 1/1:44:0,44 1/1:64:0,64 1/1:56:0,56 1/1:80:0,80 1/1:73:0,73 1/1:84:0,84 1/1:73:0,73 1/1:69:0,69 1/1:74:0,74 1/1:82:0,82 1/1:72:0,72 2 179444939 47247;rs2303838 C T 197.75 . #_unique_end_positions=,33;#_unique_start_positions=,28;AC=20;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3434;AF_ESP_clinvar_20171029_hg19=,0.2240;AF_EXAC_clinvar_20171029_hg19=,0.24199;AF_TGP_clinvar_20171029_hg19=,0.3512;ALLELEID_clinvar_20171029_hg19=,56412;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2147;AN=20;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001243779.1:p.Val20718Ile|_NP_597676.3:p.Val13419Ile|_NP_001254479.2:p.Val22359Ile|_NP_597681.4:p.Val13486Ile|_NP_596869.4:p.Val19791Ile|_NP_003310.4:p.Val13294Ile;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Val22359Ile;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.6488|0.3512;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179444939C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:27005;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.62152G>A|_NM_001267550.2:c.67075G>A|_NM_003319.4:c.39880G>A|_NM_133378.4:c.59371G>A|_NM_133432.3:c.40255G>A|_NM_133437.4:c.40456G>A;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.67075G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6310;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1849;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,53;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273|TTN-AS1:100506866;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:100506866|GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:44124|HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN-AS1|TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6048|gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179444939;RS_dbsnp_common_v150_hg19_refseq=,2303838;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,38;Read_coverage=,93;Read_direction_test_probability=,0.9532084563279796;Read_position_test_probability=,0.9175718908478603;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,40;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3415;SF=0,1,5,10,12,14,15,16,19,20,27,28,29,35,36,37,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.717254|0.282746;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050328080a0517053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.27551;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.141593;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.589744;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.559524;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.301136;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.535714;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.598837;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.294444;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.12;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.216783;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.227273;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.352679;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.932;db_xref=,GeneID:100506866|HGNC:HGNC:44124|GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN_antisense_RNA_1|titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN-AS1|TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lncRNA|protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon146:c.G39880A:p.V13294I,TTN:NM_133432:exon147:c.G40255A:p.V13419I,TTN:NM_133437:exon147:c.G40456A:p.V13486I,TTN:NM_133378:exon267:c.G59371A:p.V19791I,TTN:NM_001256850:exon268:c.G62152A:p.V20718I,TTN:NM_001267550:exon318:c.G67075A:p.V22359I;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.2239;esp6500siv2_ea=0.1769;esp6500siv2_all=0.2239;esp6500siv2_ea=0.1769;1000g2015aug_all=0.351238;avsnp147=rs2303838;Kaviar_AF=0.233192;Kaviar_AC=36052;Kaviar_AN=154602;ExAC_ALL=0.2420;ExAC_AFR=0.3316;ExAC_AMR=0.1927;ExAC_EAS=0.6017;ExAC_FIN=0.1655;ExAC_NFE=0.1776;ExAC_OTH=0.2327;ExAC_SAS=0.3312;CLNALLELEID=56412;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.145;SIFT_pred=T;Polyphen2_HDIV_score=0.003;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.011;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.048;MutationTaster_pred=P;MutationAssessor_score=1.715;MutationAssessor_pred=L;FATHMM_score=0.42;FATHMM_pred=T;PROVEAN_score=-0.71;PROVEAN_pred=N;VEST3_score=0.137;CADD_raw=1.514;CADD_phred=13.39;DANN_score=0.894;fathmm-MKL_coding_score=0.304;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.962;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=2.61;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.022;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=0.995;SiPhy_29way_logOdds=6.761;GDI_full_10282015=.;dpsi_max_tissue=0.5289;dpsi_zscore=1.161;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2391;gnomAD_exome_AFR=0.3339;gnomAD_exome_AMR=0.1928;gnomAD_exome_ASJ=0.2367;gnomAD_exome_EAS=0.6092;gnomAD_exome_FIN=0.1720;gnomAD_exome_NFE=0.1739;gnomAD_exome_OTH=0.2147;gnomAD_exome_SAS=0.3263;gnomAD_genome_ALL=0.2442;gnomAD_genome_AFR=0.3324;gnomAD_genome_AMR=0.2160;gnomAD_genome_ASJ=0.1867;gnomAD_genome_EAS=0.6045;gnomAD_genome_FIN=0.1603;gnomAD_genome_NFE=0.1805;gnomAD_genome_OTH=0.2041;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 1:91:0,38 1:61:0,34 . . . 1:55:0,30 . . . . 1:93:0,45 . 1:62:0,26 . 1:113:0,50 1:67:0,29 1:61:0,31 . . 1/1:53:0,53 1:87:0,43 . . . . . . 1:86:0,41 1:73:0,30 1:65:0,39 . . . . . 1/1:69:0,69 1:70:0,27 1:68:0,36 . . 1:74:0,35 1:66:0,31 2 179446381 47236;rs72646869 C T 200.00 . #_unique_end_positions=,30;#_unique_start_positions=,26;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0162;AF_EXAC_clinvar_20171029_hg19=,0.01495;AF_TGP_clinvar_20171029_hg19=,0.0058;ALLELEID_clinvar_20171029_hg19=,56401;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0043;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_003310.4:p.Arg13140Lys|_NP_001254479.2:p.Arg22205Lys|_NP_597676.3:p.Arg13265Lys|_NP_596869.4:p.Arg19637Lys|_NP_597681.4:p.Arg13332Lys|_NP_001243779.1:p.Arg20564Lys;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Arg22205Lys;BaseQRankSum=,-0.46;CAF_dbsnp_common_v150_hg19_refseq=,0.9942|0.005791;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1837342|OMIM:608807|Orphanet:ORPHA140922|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1858763|OMIM:604145|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy|_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179446381C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_conflicting_interpretations;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:75865;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.61691G>A|_NM_001267550.2:c.66614G>A|_NM_003319.4:c.39419G>A|_NM_133378.4:c.58910G>A|_NM_133432.3:c.39794G>A|_NM_133437.4:c.39995G>A;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.66614G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0249;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,66;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273|TTN-AS1:100506866;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:100506866|GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:44124|HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN-AS1|TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6048|gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179446381;RS_dbsnp_common_v150_hg19_refseq=,72646869;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,40;Read_coverage=,102;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9998632064970161;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,36;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=20;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.990315|0.00968473;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050228080a05040536000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:100506866|HGNC:HGNC:44124|GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN_antisense_RNA_1|titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN-AS1|TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lncRNA|protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon144:c.G39419A:p.R13140K,TTN:NM_133432:exon145:c.G39794A:p.R13265K,TTN:NM_133437:exon145:c.G39995A:p.R13332K,TTN:NM_133378:exon265:c.G58910A:p.R19637K,TTN:NM_001256850:exon266:c.G61691A:p.R20564K,TTN:NM_001267550:exon316:c.G66614A:p.R22205K;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0162;esp6500siv2_ea=0.0219;esp6500siv2_all=0.0162;esp6500siv2_ea=0.0219;1000g2015aug_all=0.00579073;avsnp147=rs72646869;Kaviar_AF=0.015168;Kaviar_AC=2345;Kaviar_AN=154602;ExAC_ALL=0.0149;ExAC_AFR=0.0039;ExAC_AMR=0.0084;ExAC_EAS=0.0001;ExAC_FIN=0.0174;ExAC_NFE=0.0225;ExAC_OTH=0.0147;ExAC_SAS=0.0021;CLNALLELEID=56401;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.717;SIFT_pred=T;Polyphen2_HDIV_score=0.122;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.03;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=-0.21;MutationAssessor_pred=N;FATHMM_score=0.42;FATHMM_pred=T;PROVEAN_score=-1.57;PROVEAN_pred=N;VEST3_score=0.294;CADD_raw=3.234;CADD_phred=22.8;DANN_score=0.920;fathmm-MKL_coding_score=0.887;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.035;MetaSVM_pred=T;MetaLR_score=0.036;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.41;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=0.995;SiPhy_29way_logOdds=19.389;GDI_full_10282015=.;dpsi_max_tissue=0.1475;dpsi_zscore=0.610;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0138;gnomAD_exome_AFR=0.0035;gnomAD_exome_AMR=0.0085;gnomAD_exome_ASJ=0.0039;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0184;gnomAD_exome_NFE=0.0223;gnomAD_exome_OTH=0.0112;gnomAD_exome_SAS=0.0020;gnomAD_genome_ALL=0.0129;gnomAD_genome_AFR=0.0045;gnomAD_genome_AMR=0.0107;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0198;gnomAD_genome_NFE=0.0175;gnomAD_genome_OTH=0.0194;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . 1:95:0,35 . . . . . . . . . . . . . . . . . . . . . 2 179447731 . G A 200.00 . #_unique_end_positions=,28;#_unique_start_positions=,26;AC=1;AN=1;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.18;Coding_region_change=,NM_001256850.1:c.60876C>T|_NM_001267550.2:c.65799C>T|_NM_003319.4:c.38604C>T|_NM_133378.4:c.58095C>T|_NM_133432.3:c.38979C>T|_NM_133437.4:c.39180C>T;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.65799C>T;Forward_read_coverage=,51;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:100506866|GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:100506866|GeneID:7273;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:44124|HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:44124|HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN-AS1|TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NR_038272.1|NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6048|gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8980|rna8982|rna8983|rna8984|rna8985|rna8986|rna8987;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6048|gene6049;QUAL=,200.0;Read_count=,43;Read_coverage=,74;Read_direction_test_probability=,0.9959687443452653;Read_position_test_probability=,0.9764315019670453;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NR_038272.1|NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,23;SF=32;conservation_score=,0.993;db_xref=,GeneID:100506866|HGNC:HGNC:44124|GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NR_038272.1|Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN_antisense_RNA_1|titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,ncRNA|mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN-AS1|TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN-AS1|TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lncRNA|protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN_antisense_RNA_1|_transcript_variant_1|titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NR_038272.1|NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,lnc_RNA|mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon141:c.C38604T:p.D12868D,TTN:NM_133432:exon142:c.C38979T:p.D12993D,TTN:NM_133437:exon142:c.C39180T:p.D13060D,TTN:NM_133378:exon262:c.C58095T:p.D19365D,TTN:NM_001256850:exon263:c.C60876T:p.D20292D,TTN:NM_001267550:exon313:c.C65799T:p.D21933D;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=8.2e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=8.2e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=.;avsnp147=rs370123011;Kaviar_AF=3.88e-05;Kaviar_AC=6;Kaviar_AN=154602;ExAC_ALL=5.266e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=9.368e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=449601;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1208;dpsi_zscore=-0.508;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=3.345e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=7.334e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=9.706e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0002;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:71:0,40 . . . . . . . . . 2 179447848 47227;rs4894029 T C 195.72 . #_unique_end_positions=,34;#_unique_start_positions=,25;AC=21;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5749;AF_ESP_clinvar_20171029_hg19=,0.3218;AF_EXAC_clinvar_20171029_hg19=,0.35880;ALLELEID_clinvar_20171029_hg19=,56392;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4078;AN=21;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.4862|0.5138;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179447848T>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:27017;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.60759A>G|_NM_001267550.2:c.65682A>G|_NM_003319.4:c.38487A>G|_NM_133378.4:c.57978A>G|_NM_133432.3:c.38862A>G|_NM_133437.4:c.39063A>G;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.65682A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7202;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2555;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,39;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273|TTN-AS1:100506866;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:100506866|GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:100506866|GeneID:7273;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:44124|HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:44124|HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN-AS1|TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NR_038272.1|NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6048|gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8980|rna8982|rna8983|rna8984|rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6048|gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179447848;RS_dbsnp_common_v150_hg19_refseq=,4894029;Read_count=,50;Read_coverage=,92;Read_direction_test_probability=,0.8946579563029706;Read_position_test_probability=,0.9662444553335288;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NR_038272.1|NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,53;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5593;SF=0,1,5,10,12,14,15,16,17,19,20,27,28,29,35,36,37,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.584346|0.415654;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05012808030517053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.530612;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.20354;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.682927;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.666667;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.505682;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.642857;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.654762;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.583333;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.346939;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.398601;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.258621;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.611607;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.425;db_xref=,GeneID:100506866|HGNC:HGNC:44124|GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NR_038272.1|Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN_antisense_RNA_1|titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,ncRNA|mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN-AS1|TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN-AS1|TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lncRNA|protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN_antisense_RNA_1|_transcript_variant_1|titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NR_038272.1|NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,lnc_RNA|mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon141:c.A38487G:p.T12829T,TTN:NM_133432:exon142:c.A38862G:p.T12954T,TTN:NM_133437:exon142:c.A39063G:p.T13021T,TTN:NM_133378:exon262:c.A57978G:p.T19326T,TTN:NM_001256850:exon263:c.A60759G:p.T20253T,TTN:NM_001267550:exon313:c.A65682G:p.T21894T;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.3218;esp6500siv2_ea=0.2244;esp6500siv2_all=0.3218;esp6500siv2_ea=0.2244;1000g2015aug_all=0.513778;avsnp147=rs4894029;Kaviar_AF=0.339782;Kaviar_AC=52531;Kaviar_AN=154602;ExAC_ALL=0.3588;ExAC_AFR=0.5509;ExAC_AMR=0.4422;ExAC_EAS=0.7006;ExAC_FIN=0.2785;ExAC_NFE=0.2377;ExAC_OTH=0.3356;ExAC_SAS=0.5310;CLNALLELEID=56392;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1429;dpsi_zscore=0.599;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3546;gnomAD_exome_AFR=0.5487;gnomAD_exome_AMR=0.4339;gnomAD_exome_ASJ=0.2889;gnomAD_exome_EAS=0.7034;gnomAD_exome_FIN=0.2785;gnomAD_exome_NFE=0.2271;gnomAD_exome_OTH=0.3130;gnomAD_exome_SAS=0.5209;gnomAD_genome_ALL=0.3546;gnomAD_genome_AFR=0.5440;gnomAD_genome_AMR=0.4149;gnomAD_genome_ASJ=0.2517;gnomAD_genome_EAS=0.6943;gnomAD_genome_FIN=0.2685;gnomAD_genome_NFE=0.2316;gnomAD_genome_OTH=0.3057;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 1:78:0,44 1:62:0,28 . . . 1:54:0,20 . . . . 1:67:0,39 . 1:76:0,36 . 1:107:0,52 1:59:0,31 1:82:0,35 1:94:0,58 . 1/1:50:0,50 1:113:0,47 . . . . . . 1:74:0,37 1:95:0,48 1:63:0,34 . . . . . 1/1:88:0,88 1:86:0,42 1:61:0,36 . . 1:71:0,28 1:57:0,24 2 179449131 47218;rs13021201 G A 200.00 . #_unique_end_positions=,31;#_unique_start_positions=,25;AC=4;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0317;AF_EXAC_clinvar_20171029_hg19=,0.02564;AF_TGP_clinvar_20171029_hg19=,0.0108;ALLELEID_clinvar_20171029_hg19=,56383;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0101;AN=4;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001243779.1:p.Ser20075Leu|_NP_597681.4:p.Ser12843Leu|_NP_596869.4:p.Ser19148Leu|_NP_597676.3:p.Ser12776Leu|_NP_003310.4:p.Ser12651Leu|_NP_001254479.2:p.Ser21716Leu;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Ser21716Leu;BaseQRankSum=,0.16;CAF_dbsnp_common_v150_hg19_refseq=,0.9892|0.01078;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1837342|OMIM:608807|Orphanet:ORPHA140922|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1858763|OMIM:604145|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy|_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179449131G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:63730;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.60224C>T|_NM_001267550.2:c.65147C>T|_NM_003319.4:c.37952C>T|_NM_133378.4:c.57443C>T|_NM_133432.3:c.38327C>T|_NM_133437.4:c.38528C>T;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.65147C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0368;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,43;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273|TTN-AS1:100506866;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:100506866|GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:44124|HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN-AS1|TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6048|gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179449131;RS_dbsnp_common_v150_hg19_refseq=,13021201;Read_count=,45;Read_coverage=,97;Read_direction_test_probability=,0.9965267683685577;Read_position_test_probability=,0.6511671722597783;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,54;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0102;SF=7,23,33,38;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.980253|0.0197472;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128080a05140537000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0258621;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:100506866|HGNC:HGNC:44124|GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN_antisense_RNA_1|titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN-AS1|TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lncRNA|protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon139:c.C37952T:p.S12651L,TTN:NM_133432:exon140:c.C38327T:p.S12776L,TTN:NM_133437:exon140:c.C38528T:p.S12843L,TTN:NM_133378:exon260:c.C57443T:p.S19148L,TTN:NM_001256850:exon261:c.C60224T:p.S20075L,TTN:NM_001267550:exon311:c.C65147T:p.S21716L;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0317;esp6500siv2_ea=0.0426;esp6500siv2_all=0.0317;esp6500siv2_ea=0.0426;1000g2015aug_all=0.0107827;avsnp147=rs13021201;Kaviar_AF=0.0270889;Kaviar_AC=4188;Kaviar_AN=154602;ExAC_ALL=0.0256;ExAC_AFR=0.0067;ExAC_AMR=0.0139;ExAC_EAS=0;ExAC_FIN=0.0107;ExAC_NFE=0.0374;ExAC_OTH=0.0135;ExAC_SAS=0.0173;CLNALLELEID=56383;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.072;SIFT_pred=T;Polyphen2_HDIV_score=0.669;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.266;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=1.48;MutationAssessor_pred=L;FATHMM_score=0.28;FATHMM_pred=T;PROVEAN_score=-4.01;PROVEAN_pred=D;VEST3_score=0.406;CADD_raw=3.355;CADD_phred=22.9;DANN_score=0.923;fathmm-MKL_coding_score=0.996;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.891;MetaSVM_pred=T;MetaLR_score=0.060;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.97;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.992;phastCons20way_mammalian=0.994;SiPhy_29way_logOdds=20.406;GDI_full_10282015=.;dpsi_max_tissue=-0.0353;dpsi_zscore=-0.194;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0247;gnomAD_exome_AFR=0.0071;gnomAD_exome_AMR=0.0152;gnomAD_exome_ASJ=0.0153;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0106;gnomAD_exome_NFE=0.0398;gnomAD_exome_OTH=0.0183;gnomAD_exome_SAS=0.0177;gnomAD_genome_ALL=0.0219;gnomAD_genome_AFR=0.0088;gnomAD_genome_AMR=0.0107;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0117;gnomAD_genome_NFE=0.0350;gnomAD_genome_OTH=0.0234;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 . . . . . . . 1:90:0,39 . . . . . . . . . . . . . . . 1:123:0,59 . . . . . . . . . 1:79:0,40 . . . . 1:71:0,35 . . . 2 179449186 47216;rs72646861 G A 200.00 . #_unique_end_positions=,34;#_unique_start_positions=,36;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0008;AF_ESP_clinvar_20171029_hg19=,0.0019;AF_EXAC_clinvar_20171029_hg19=,0.00883;AF_TGP_clinvar_20171029_hg19=,0.0130;ALLELEID_clinvar_20171029_hg19=,56381;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0043;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_003310.4:p.Arg12633Cys|_NP_001254479.2:p.Arg21698Cys|_NP_001243779.1:p.Arg20057Cys|_NP_597681.4:p.Arg12825Cys|_NP_597676.3:p.Arg12758Cys|_NP_596869.4:p.Arg19130Cys;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Arg21698Cys;BaseQRankSum=,-0.15;CAF_dbsnp_common_v150_hg19_refseq=,0.987|0.01298;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1837342|OMIM:608807|Orphanet:ORPHA140922|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1858763|OMIM:604145|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy|_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179449186G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:82477;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.60169C>T|_NM_001267550.2:c.65092C>T|_NM_003319.4:c.37897C>T|_NM_133378.4:c.57388C>T|_NM_133432.3:c.38272C>T|_NM_133437.4:c.38473C>T;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.65092C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0228;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0020;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,36;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273|TTN-AS1:100506866;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:100506866|GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:44124|HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN-AS1|TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6048|gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179449186;RS_dbsnp_common_v150_hg19_refseq=,72646861;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,50;Read_coverage=,92;Read_direction_test_probability=,0.8824308888074749;Read_position_test_probability=,0.9931670804197962;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,56;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0368;SF=41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.995741|0.00425853;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128080a05150436000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:100506866|HGNC:HGNC:44124|GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN_antisense_RNA_1|titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN-AS1|TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lncRNA|protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon139:c.C37897T:p.R12633C,TTN:NM_133432:exon140:c.C38272T:p.R12758C,TTN:NM_133437:exon140:c.C38473T:p.R12825C,TTN:NM_133378:exon260:c.C57388T:p.R19130C,TTN:NM_001256850:exon261:c.C60169T:p.R20057C,TTN:NM_001267550:exon311:c.C65092T:p.R21698C;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0019;esp6500siv2_ea=0.0028;esp6500siv2_all=0.0019;esp6500siv2_ea=0.0028;1000g2015aug_all=0.0129792;avsnp147=rs72646861;Kaviar_AF=0.0079624;Kaviar_AC=1231;Kaviar_AN=154602;ExAC_ALL=0.0088;ExAC_AFR=0.0002;ExAC_AMR=0.0022;ExAC_EAS=0.0192;ExAC_FIN=0.0006;ExAC_NFE=0.0036;ExAC_OTH=0.0089;ExAC_SAS=0.0377;CLNALLELEID=56381;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.053;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.984;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.405;MutationAssessor_pred=M;FATHMM_score=0.52;FATHMM_pred=T;PROVEAN_score=-6.03;PROVEAN_pred=D;VEST3_score=0.508;CADD_raw=4.103;CADD_phred=23.7;DANN_score=0.896;fathmm-MKL_coding_score=0.959;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.451;MetaSVM_pred=T;MetaLR_score=0.239;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=6.08;phyloP7way_vertebrate=0.866;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.999;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=20.665;GDI_full_10282015=.;dpsi_max_tissue=-0.0027;dpsi_zscore=0.009;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM1510296#"Neuromuscular_disorder";gnomAD_exome_ALL=0.0082;gnomAD_exome_AFR=0.0003;gnomAD_exome_AMR=0.0016;gnomAD_exome_ASJ=0.0192;gnomAD_exome_EAS=0.0199;gnomAD_exome_FIN=0.0002;gnomAD_exome_NFE=0.0026;gnomAD_exome_OTH=0.0057;gnomAD_exome_SAS=0.0360;gnomAD_genome_ALL=0.0022;gnomAD_genome_AFR=0.0010;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0099;gnomAD_genome_EAS=0.0192;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0016;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:84:0,45 2 179451420 47209;rs2042996 G A 195.74 . #_unique_end_positions=,31;#_unique_start_positions=,29;AC=21;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5582;AF_ESP_clinvar_20171029_hg19=,0.3123;AF_EXAC_clinvar_20171029_hg19=,0.35089;ALLELEID_clinvar_20171029_hg19=,56374;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4078;AN=21;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_597676.3:p.Thr12463Ile|_NP_596869.4:p.Thr18835Ile|_NP_001243779.1:p.Thr19762Ile|_NP_597681.4:p.Thr12530Ile|_NP_001254479.2:p.Thr21403Ile|_NP_003310.4:p.Thr12338Ile;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Thr21403Ile;BaseQRankSum=,-0.48;CAF_dbsnp_common_v150_hg19_refseq=,0.4924|0.5076;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179451420G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:27032;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.59285C>T|_NM_001267550.2:c.64208C>T|_NM_003319.4:c.37013C>T|_NM_133378.4:c.56504C>T|_NM_133432.3:c.37388C>T|_NM_133437.4:c.37589C>T;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.64208C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7212;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2485;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,47;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273|TTN-AS1:100506866;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:100506866|GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:44124|HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN-AS1|TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6048|gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179451420;RS_dbsnp_common_v150_hg19_refseq=,2042996;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,40;Read_coverage=,88;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9930410090444123;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,41;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5562;SF=0,1,5,10,12,14,15,16,17,19,20,27,28,29,35,36,37,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.594066|0.405934;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128080a0515053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.5;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.183333;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.695122;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.672619;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.505682;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.655556;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.666667;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.527778;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.357143;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.377622;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.25;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.6;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.901;db_xref=,GeneID:100506866|HGNC:HGNC:44124|GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN_antisense_RNA_1|titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN-AS1|TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lncRNA|protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon136:c.C37013T:p.T12338I,TTN:NM_133432:exon137:c.C37388T:p.T12463I,TTN:NM_133437:exon137:c.C37589T:p.T12530I,TTN:NM_133378:exon257:c.C56504T:p.T18835I,TTN:NM_001256850:exon258:c.C59285T:p.T19762I,TTN:NM_001267550:exon308:c.C64208T:p.T21403I;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.3123;esp6500siv2_ea=0.2197;esp6500siv2_all=0.3123;esp6500siv2_ea=0.2197;1000g2015aug_all=0.507588;avsnp147=rs2042996;Kaviar_AF=0.336522;Kaviar_AC=52027;Kaviar_AN=154602;ExAC_ALL=0.3509;ExAC_AFR=0.5301;ExAC_AMR=0.4320;ExAC_EAS=0.7027;ExAC_FIN=0.2768;ExAC_NFE=0.2301;ExAC_OTH=0.3311;ExAC_SAS=0.5251;CLNALLELEID=56374;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-3.385;MutationAssessor_pred=N;FATHMM_score=0.97;FATHMM_pred=T;PROVEAN_score=2.99;PROVEAN_pred=N;VEST3_score=0.128;CADD_raw=3.015;CADD_phred=22.3;DANN_score=0.769;fathmm-MKL_coding_score=0.200;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.907;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=6.07;phyloP7way_vertebrate=0.125;phyloP20way_mammalian=0.244;phastCons7way_vertebrate=0.977;phastCons20way_mammalian=0.976;SiPhy_29way_logOdds=12.366;GDI_full_10282015=.;dpsi_max_tissue=-0.0156;dpsi_zscore=-0.076;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3508;gnomAD_exome_AFR=0.5294;gnomAD_exome_AMR=0.4281;gnomAD_exome_ASJ=0.2848;gnomAD_exome_EAS=0.7073;gnomAD_exome_FIN=0.2782;gnomAD_exome_NFE=0.2241;gnomAD_exome_OTH=0.3079;gnomAD_exome_SAS=0.5185;gnomAD_genome_ALL=0.3473;gnomAD_genome_AFR=0.5238;gnomAD_genome_AMR=0.4151;gnomAD_genome_ASJ=0.2517;gnomAD_genome_EAS=0.7001;gnomAD_genome_FIN=0.2675;gnomAD_genome_NFE=0.2281;gnomAD_genome_OTH=0.3006;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 1:79:0,35 1:81:0,41 . . . 1:58:0,25 . . . . 1:107:0,41 . 1:74:0,42 . 1:82:0,30 1:74:0,38 1:77:0,41 1:79:0,43 . 1/1:49:0,49 1:90:0,42 . . . . . . 1:110:0,46 1:91:0,56 1:83:0,46 . . . . . 1/1:65:0,65 1:74:0,42 1:63:0,27 . . 1:79:0,35 1:85:0,32 2 179453429 47188;rs72646850 G A 200.00 . #_unique_end_positions=,31;#_unique_start_positions=,28;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0008;AF_ESP_clinvar_20171029_hg19=,0.0121;AF_EXAC_clinvar_20171029_hg19=,0.00940;AF_TGP_clinvar_20171029_hg19=,0.0058;ALLELEID_clinvar_20171029_hg19=,56353;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0159;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_597676.3:p.Thr12068Ile|_NP_001254479.2:p.Thr21008Ile|_NP_597681.4:p.Thr12135Ile|_NP_001243779.1:p.Thr19367Ile|_NP_596869.4:p.Thr18440Ile|_NP_003310.4:p.Thr11943Ile;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Thr21008Ile;BaseQRankSum=,-1.03;CAF_dbsnp_common_v150_hg19_refseq=,0.9942|0.005791|.;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1837342|OMIM:608807|Orphanet:ORPHA140922|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1858763|OMIM:604145|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy|_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179453429G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_conflicting_interpretations;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:81358;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.58100C>T|_NM_001267550.2:c.63023C>T|_NM_003319.4:c.35828C>T|_NM_133378.4:c.55319C>T|_NM_133432.3:c.36203C>T|_NM_133437.4:c.36404C>T;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.63023C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0169;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,44;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273|TTN-AS1:100506866;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:100506866|GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:44124|HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN-AS1|TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6048|gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179453429;RS_dbsnp_common_v150_hg19_refseq=,72646850;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,40;Read_coverage=,88;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.8724141600310733;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,44;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=34;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.991449|0.00855141|.;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128080a05040436000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.0;db_xref=,GeneID:100506866|HGNC:HGNC:44124|GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN_antisense_RNA_1|titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN-AS1|TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lncRNA|protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon132:c.C35828T:p.T11943I,TTN:NM_133432:exon133:c.C36203T:p.T12068I,TTN:NM_133437:exon133:c.C36404T:p.T12135I,TTN:NM_133378:exon253:c.C55319T:p.T18440I,TTN:NM_001256850:exon254:c.C58100T:p.T19367I,TTN:NM_001267550:exon304:c.C63023T:p.T21008I;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0121;esp6500siv2_ea=0.0163;esp6500siv2_all=0.0121;esp6500siv2_ea=0.0163;1000g2015aug_all=0.00579073;avsnp147=rs72646850;Kaviar_AF=0.0097153;Kaviar_AC=1502;Kaviar_AN=154602;ExAC_ALL=0.0094;ExAC_AFR=0.0023;ExAC_AMR=0.0099;ExAC_EAS=0;ExAC_FIN=0.0030;ExAC_NFE=0.0143;ExAC_OTH=0.0122;ExAC_SAS=0.0006;CLNALLELEID=56353;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.486;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0.06;MutationAssessor_pred=N;FATHMM_score=0.37;FATHMM_pred=T;PROVEAN_score=0.5;PROVEAN_pred=N;VEST3_score=0.122;CADD_raw=-0.383;CADD_phred=0.424;DANN_score=0.714;fathmm-MKL_coding_score=0.016;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.071;MetaSVM_pred=T;MetaLR_score=0.048;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=-6.48;phyloP7way_vertebrate=-0.310;phyloP20way_mammalian=-0.648;phastCons7way_vertebrate=0.843;phastCons20way_mammalian=0.079;SiPhy_29way_logOdds=19.640;GDI_full_10282015=.;dpsi_max_tissue=0.0768;dpsi_zscore=0.406;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0090;gnomAD_exome_AFR=0.0016;gnomAD_exome_AMR=0.0105;gnomAD_exome_ASJ=0.0141;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0024;gnomAD_exome_NFE=0.0139;gnomAD_exome_OTH=0.0141;gnomAD_exome_SAS=0.0008;gnomAD_genome_ALL=0.0077;gnomAD_genome_AFR=0.0025;gnomAD_genome_AMR=0.0120;gnomAD_genome_ASJ=0.0199;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0006;gnomAD_genome_NFE=0.0127;gnomAD_genome_OTH=0.0081;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:84:0,38 . . . . . . . 2 179453894 . A G 200.00 . #_unique_end_positions=,43;#_unique_start_positions=,32;AC=1;AN=1;Amino_acid_change=,NP_003310.4:p.Phe11788Ser|_NP_597676.3:p.Phe11913Ser|_NP_596869.4:p.Phe18285Ser|_NP_597681.4:p.Phe11980Ser|_NP_001243779.1:p.Phe19212Ser|_NP_001254479.2:p.Phe20853Ser;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Phe20853Ser;BaseQRankSum=,-0.15;Coding_region_change=,NM_001256850.1:c.57635T>C|_NM_001267550.2:c.62558T>C|_NM_003319.4:c.35363T>C|_NM_133378.4:c.54854T>C|_NM_133432.3:c.35738T>C|_NM_133437.4:c.35939T>C;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.62558T>C;Forward_read_coverage=,78;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:100506866|GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:44124|HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN-AS1|TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6048|gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;Read_count=,67;Read_coverage=,138;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9658959591733858;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,60;SF=2;conservation_score=,1.0;db_xref=,GeneID:100506866|HGNC:HGNC:44124|GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN_antisense_RNA_1|titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN-AS1|TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lncRNA|protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon132:c.T35363C:p.F11788S,TTN:NM_133432:exon133:c.T35738C:p.F11913S,TTN:NM_133437:exon133:c.T35939C:p.F11980S,TTN:NM_133378:exon253:c.T54854C:p.F18285S,TTN:NM_001256850:exon254:c.T57635C:p.F19212S,TTN:NM_001267550:exon304:c.T62558C:p.F20853S;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=8.3e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=8.3e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=.;avsnp147=rs375844494;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=8.303e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.5e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.93;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=-1.32;MutationAssessor_pred=N;FATHMM_score=-0.13;FATHMM_pred=T;PROVEAN_score=-4.5;PROVEAN_pred=D;VEST3_score=0.621;CADD_raw=2.680;CADD_phred=20.7;DANN_score=0.939;fathmm-MKL_coding_score=0.941;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.300;MetaSVM_pred=T;MetaLR_score=0.180;MetaLR_pred=T;integrated_fitCons_score=0.581;integrated_confidence_value=0;GERP++_RS=6.02;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.199;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=16.542;GDI_full_10282015=.;dpsi_max_tissue=-0.0104;dpsi_zscore=-0.040;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=8.152e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=1.801e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=3.237e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.668e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . 1:124:0,62 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2 179454394 47179;rs1560221 A G 200.00 . #_unique_end_positions=,45;#_unique_start_positions=,39;AC=21;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5681;AF_ESP_clinvar_20171029_hg19=,0.3207;AF_EXAC_clinvar_20171029_hg19=,0.35396;ALLELEID_clinvar_20171029_hg19=,56344;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4092;AN=21;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.26;CAF_dbsnp_common_v150_hg19_refseq=,0.4876|0.5124;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179454394A>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:27054;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.57135T>C|_NM_001267550.2:c.62058T>C|_NM_003319.4:c.34863T>C|_NM_133378.4:c.54354T>C|_NM_133432.3:c.35238T>C|_NM_133437.4:c.35439T>C;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.62058T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7232;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2545;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,74;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273|TTN-AS1:100506866;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:100506866|GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:44124|HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN-AS1|TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6048|gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179454394;RS_dbsnp_common_v150_hg19_refseq=,1560221;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,62;Read_coverage=,143;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9973858451983123;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,69;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5583;SF=0,1,5,10,12,14,15,16,17,19,20,27,28,29,35,36,37,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.588193|0.411807;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05032808030517053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.520408;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.20354;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.695122;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.662651;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.505682;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.639535;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.656977;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.555556;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.35;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.391608;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.255682;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.615044;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:100506866|HGNC:HGNC:44124|GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN_antisense_RNA_1|titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN-AS1|TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lncRNA|protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon132:c.T34863C:p.Y11621Y,TTN:NM_133432:exon133:c.T35238C:p.Y11746Y,TTN:NM_133437:exon133:c.T35439C:p.Y11813Y,TTN:NM_133378:exon253:c.T54354C:p.Y18118Y,TTN:NM_001256850:exon254:c.T57135C:p.Y19045Y,TTN:NM_001267550:exon304:c.T62058C:p.Y20686Y;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.3207;esp6500siv2_ea=0.2249;esp6500siv2_all=0.3207;esp6500siv2_ea=0.2249;1000g2015aug_all=0.51238;avsnp147=rs1560221;Kaviar_AF=0.335668;Kaviar_AC=51895;Kaviar_AN=154602;ExAC_ALL=0.3540;ExAC_AFR=0.5417;ExAC_AMR=0.4333;ExAC_EAS=0.7048;ExAC_FIN=0.2774;ExAC_NFE=0.2326;ExAC_OTH=0.3333;ExAC_SAS=0.5265;CLNALLELEID=56344;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0300;dpsi_zscore=0.196;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3546;gnomAD_exome_AFR=0.5427;gnomAD_exome_AMR=0.4319;gnomAD_exome_ASJ=0.2875;gnomAD_exome_EAS=0.7097;gnomAD_exome_FIN=0.2791;gnomAD_exome_NFE=0.2270;gnomAD_exome_OTH=0.3128;gnomAD_exome_SAS=0.5201;gnomAD_genome_ALL=0.3525;gnomAD_genome_AFR=0.5361;gnomAD_genome_AMR=0.4125;gnomAD_genome_ASJ=0.2517;gnomAD_genome_EAS=0.7026;gnomAD_genome_FIN=0.2682;gnomAD_genome_NFE=0.2314;gnomAD_genome_OTH=0.3051;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 1:130:0,56 1:134:0,60 . . . 1:108:0,45 . . . . 1:198:0,75 . 1:162:0,64 . 1:183:0,66 1:153:0,73 1:157:0,70 1:157:0,70 . 1/1:124:0,124 1:165:0,80 . . . . . . 1:166:0,75 1:182:0,81 1:180:0,83 . . . . . 1/1:153:0,153 1:146:0,73 1:111:0,51 . . 1:160:0,71 1:159:0,84 2 179455207 47170;rs2163009 T C 197.71 . #_unique_end_positions=,51;#_unique_start_positions=,39;AC=21;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5688;AF_ESP_clinvar_20171029_hg19=,0.3194;AF_EXAC_clinvar_20171029_hg19=,0.35438;ALLELEID_clinvar_20171029_hg19=,56335;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4078;AN=21;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.15;CAF_dbsnp_common_v150_hg19_refseq=,0.4876|0.5124;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179455207T>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:27061;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.56322A>G|_NM_001267550.2:c.61245A>G|_NM_003319.4:c.34050A>G|_NM_133378.4:c.53541A>G|_NM_133432.3:c.34425A>G|_NM_133437.4:c.34626A>G;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.61245A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7232;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2545;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,92;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273|TTN-AS1:100506866;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:100506866|GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:44124|HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN-AS1|TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6048|gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179455207;RS_dbsnp_common_v150_hg19_refseq=,2163009;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,75;Read_coverage=,160;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9979317164821817;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,68;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5583;SF=0,1,5,10,12,14,15,16,17,19,20,27,28,29,35,36,37,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.588124|0.411876;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05012808030517053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.520408;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.20354;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.695122;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.670588;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.505682;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.639535;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.656977;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.561111;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.35;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.391608;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.252874;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.615044;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.0;db_xref=,GeneID:100506866|HGNC:HGNC:44124|GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN_antisense_RNA_1|titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN-AS1|TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lncRNA|protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon132:c.A34050G:p.T11350T,TTN:NM_133432:exon133:c.A34425G:p.T11475T,TTN:NM_133437:exon133:c.A34626G:p.T11542T,TTN:NM_133378:exon253:c.A53541G:p.T17847T,TTN:NM_001256850:exon254:c.A56322G:p.T18774T,TTN:NM_001267550:exon304:c.A61245G:p.T20415T;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.3194;esp6500siv2_ea=0.2242;esp6500siv2_all=0.3194;esp6500siv2_ea=0.2242;1000g2015aug_all=0.51238;avsnp147=rs2163009;Kaviar_AF=0.339491;Kaviar_AC=52486;Kaviar_AN=154602;ExAC_ALL=0.3544;ExAC_AFR=0.5435;ExAC_AMR=0.4338;ExAC_EAS=0.7050;ExAC_FIN=0.2776;ExAC_NFE=0.2330;ExAC_OTH=0.3341;ExAC_SAS=0.5271;CLNALLELEID=56335;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0664;dpsi_zscore=0.367;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3543;gnomAD_exome_AFR=0.5432;gnomAD_exome_AMR=0.4320;gnomAD_exome_ASJ=0.2872;gnomAD_exome_EAS=0.7097;gnomAD_exome_FIN=0.2788;gnomAD_exome_NFE=0.2269;gnomAD_exome_OTH=0.3130;gnomAD_exome_SAS=0.5202;gnomAD_genome_ALL=0.3526;gnomAD_genome_AFR=0.5360;gnomAD_genome_AMR=0.4127;gnomAD_genome_ASJ=0.2517;gnomAD_genome_EAS=0.7025;gnomAD_genome_FIN=0.2680;gnomAD_genome_NFE=0.2315;gnomAD_genome_OTH=0.3018;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 1:153:0,71 1:179:0,98 . . . 1:163:0,86 . . . . 1:206:0,105 . 1:172:0,84 . 1:232:0,103 1:166:0,87 1:158:0,69 1:173:0,83 . 1/1:149:0,149 1:161:0,84 . . . . . . 1:251:0,110 1:216:0,101 1:202:0,104 . . . . . 1/1:157:0,157 1:160:0,60 1:135:0,69 . . 1:176:0,89 1:183:0,80 2 179456221 . G A 200.00 . #_unique_end_positions=,25;#_unique_start_positions=,23;AC=1;AN=1;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.17;Coding_region_change=,NM_001256850.1:c.55308C>T|_NM_001267550.2:c.60231C>T|_NM_003319.4:c.33036C>T|_NM_133378.4:c.52527C>T|_NM_133432.3:c.33411C>T|_NM_133437.4:c.33612C>T;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.60231C>T;Forward_read_coverage=,51;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:100506866|GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:44124|HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN-AS1|TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6048|gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;Read_count=,34;Read_coverage=,81;Read_direction_test_probability=,0.84803780284306;Read_position_test_probability=,0.8136653077976153;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,30;SF=41;conservation_score=,0.993;db_xref=,GeneID:100506866|HGNC:HGNC:44124|GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN_antisense_RNA_1|titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN-AS1|TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lncRNA|protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon132:c.C33036T:p.S11012S,TTN:NM_133432:exon133:c.C33411T:p.S11137S,TTN:NM_133437:exon133:c.C33612T:p.S11204S,TTN:NM_133378:exon253:c.C52527T:p.S17509S,TTN:NM_001256850:exon254:c.C55308T:p.S18436S,TTN:NM_001267550:exon304:c.C60231T:p.S20077S;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs751255726;Kaviar_AF=3.23e-05;Kaviar_AC=5;Kaviar_AN=154602;ExAC_ALL=4.206e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=7.568e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=517038;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0070;dpsi_zscore=-0.017;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=2.727e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=5.759e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:74:0,30 2 179456541 47157 T C 200.00 . #_unique_end_positions=,40;#_unique_start_positions=,36;AC=1;AF_ESP_clinvar_20171029_hg19=,0.0008;AF_EXAC_clinvar_20171029_hg19=,0.00053;ALLELEID_clinvar_20171029_hg19=,56322;AN=1;Amino_acid_change=,NP_596869.4:p.Asp17434Gly|_NP_001243779.1:p.Asp18361Gly|_NP_597676.3:p.Asp11062Gly|_NP_003310.4:p.Asp10937Gly|_NP_001254479.2:p.Asp20002Gly|_NP_597681.4:p.Asp11129Gly;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Asp20002Gly;BaseQRankSum=,0.0;CLNDISDBINCL_clinvar_20171029_hg19=,MedGen:C1858763|OMIM:604145|MedGen:C1861065|OMIM:613765;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1837342|OMIM:608807|Orphanet:ORPHA140922|MedGen:C1858763|OMIM:604145|MedGen:CN169374|MedGen:CN517202;CLNDNINCL_clinvar_20171029_hg19=,Dilated_cardiomyopathy_1G|Familial_hypertrophic_cardiomyopathy_9;CLNDN_clinvar_20171029_hg19=,Limb-girdle_muscular_dystrophy|_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179456541T>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_conflicting_interpretations;CLNSIGINCL_clinvar_20171029_hg19=,424805:Likely_pathogenic;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;Coding_region_change=,NM_001256850.1:c.55082A>G|_NM_001267550.2:c.60005A>G|_NM_003319.4:c.32810A>G|_NM_133378.4:c.52301A>G|_NM_133432.3:c.33185A>G|_NM_133437.4:c.33386A>G;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.60005A>G;Exact_match=,clinvar_20171029_hg19;Forward_read_coverage=,58;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:100506866|GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:44124|HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN-AS1|TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6048|gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;Read_count=,65;Read_coverage=,116;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9682436715475872;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,58;SF=19;conservation_score=,1.0;db_xref=,GeneID:100506866|HGNC:HGNC:44124|GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN_antisense_RNA_1|titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN-AS1|TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lncRNA|protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon131:c.A32810G:p.D10937G,TTN:NM_133432:exon132:c.A33185G:p.D11062G,TTN:NM_133437:exon132:c.A33386G:p.D11129G,TTN:NM_133378:exon252:c.A52301G:p.D17434G,TTN:NM_001256850:exon253:c.A55082G:p.D18361G,TTN:NM_001267550:exon303:c.A60005G:p.D20002G;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0008;esp6500siv2_ea=0.0011;esp6500siv2_all=0.0008;esp6500siv2_ea=0.0011;1000g2015aug_all=.;avsnp147=rs199512049;Kaviar_AF=0.0004463;Kaviar_AC=69;Kaviar_AN=154602;ExAC_ALL=0.0005;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0009;ExAC_OTH=0.0022;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.028;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=0.515;MutationAssessor_pred=N;FATHMM_score=0.38;FATHMM_pred=T;PROVEAN_score=-5.23;PROVEAN_pred=D;VEST3_score=0.499;CADD_raw=2.246;CADD_phred=17.81;DANN_score=0.932;fathmm-MKL_coding_score=0.985;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.603;MetaSVM_pred=T;MetaLR_score=0.230;MetaLR_pred=T;integrated_fitCons_score=0.476;integrated_confidence_value=0;GERP++_RS=6.16;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=1.061;phastCons7way_vertebrate=0.996;phastCons20way_mammalian=0.996;SiPhy_29way_logOdds=16.806;GDI_full_10282015=.;dpsi_max_tissue=-1.5575;dpsi_zscore=-1.741;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0006;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0.0128;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0001;gnomAD_exome_OTH=0.0011;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0002;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0132;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.664e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . 1:98:0,55 . . . . . . . . . . . . . . . . . . . . . . 2 179457147 47152;rs16866406 G A 193.74 . #_unique_end_positions=,24;#_unique_start_positions=,21;AC=12;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0666;AF_ESP_clinvar_20171029_hg19=,0.1253;AF_EXAC_clinvar_20171029_hg19=,0.17678;AF_TGP_clinvar_20171029_hg19=,0.2131;ALLELEID_clinvar_20171029_hg19=,56317;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1527;AN=12;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_596869.4:p.Pro17294Leu|_NP_597681.4:p.Pro10989Leu|_NP_003310.4:p.Pro10797Leu|_NP_001243779.1:p.Pro18221Leu|_NP_597676.3:p.Pro10922Leu|_NP_001254479.2:p.Pro19862Leu;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Pro19862Leu;BaseQRankSum=,0.08;CAF_dbsnp_common_v150_hg19_refseq=,0.7869|0.2131;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179457147G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:27084;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.54662C>T|_NM_001267550.2:c.59585C>T|_NM_003319.4:c.32390C>T|_NM_133378.4:c.51881C>T|_NM_133432.3:c.32765C>T|_NM_133437.4:c.32966C>T;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.59585C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4573;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1392;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,50;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273|TTN-AS1:100506866;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:100506866|GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:44124|HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN-AS1|TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6048|gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179457147;RS_dbsnp_common_v150_hg19_refseq=,16866406;Read_count=,32;Read_coverage=,80;Read_direction_test_probability=,0.9992946739465538;Read_position_test_probability=,0.9842217168484537;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,30;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2781;SF=1,10,14,16,19,20,27,28,29,35,36;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.857099|0.142901;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050328080a0515053f000101;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.0816327;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.115044;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.402439;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.382353;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.278409;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.325581;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.440476;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.0388889;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.0174825;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.142045;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0884956;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:100506866|HGNC:HGNC:44124|GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN_antisense_RNA_1|titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN-AS1|TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lncRNA|protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon129:c.C32390T:p.P10797L,TTN:NM_133432:exon130:c.C32765T:p.P10922L,TTN:NM_133437:exon130:c.C32966T:p.P10989L,TTN:NM_133378:exon250:c.C51881T:p.P17294L,TTN:NM_001256850:exon251:c.C54662T:p.P18221L,TTN:NM_001267550:exon301:c.C59585T:p.P19862L;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.1253;esp6500siv2_ea=0.1473;esp6500siv2_all=0.1253;esp6500siv2_ea=0.1473;1000g2015aug_all=0.213059;avsnp147=rs16866406;Kaviar_AF=0.168329;Kaviar_AC=26024;Kaviar_AN=154602;ExAC_ALL=0.1768;ExAC_AFR=0.0678;ExAC_AMR=0.1526;ExAC_EAS=0.4354;ExAC_FIN=0.1479;ExAC_NFE=0.1461;ExAC_OTH=0.1715;ExAC_SAS=0.2599;CLNALLELEID=56317;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.167;SIFT_pred=T;Polyphen2_HDIV_score=0.008;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.031;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.001;MutationTaster_pred=P;MutationAssessor_score=1.73;MutationAssessor_pred=L;FATHMM_score=-0.23;FATHMM_pred=T;PROVEAN_score=-6.45;PROVEAN_pred=D;VEST3_score=0.376;CADD_raw=2.159;CADD_phred=17.24;DANN_score=0.920;fathmm-MKL_coding_score=0.968;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.003;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.16;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.996;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=12.532;GDI_full_10282015=.;dpsi_max_tissue=-0.2115;dpsi_zscore=-0.709;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1769;gnomAD_exome_AFR=0.0705;gnomAD_exome_AMR=0.1486;gnomAD_exome_ASJ=0.1737;gnomAD_exome_EAS=0.4319;gnomAD_exome_FIN=0.1518;gnomAD_exome_NFE=0.1444;gnomAD_exome_OTH=0.1607;gnomAD_exome_SAS=0.2575;gnomAD_genome_ALL=0.1455;gnomAD_genome_AFR=0.0745;gnomAD_genome_AMR=0.1639;gnomAD_genome_ASJ=0.1225;gnomAD_genome_EAS=0.4439;gnomAD_genome_FIN=0.1461;gnomAD_genome_NFE=0.1539;gnomAD_genome_OTH=0.1660;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 . 1:78:0,31 . . . . . . . . 1:77:0,34 . . . 1:90:0,37 . 1:78:0,33 . . 1/1:59:0,59 1:104:0,43 . . . . . . 1:114:0,48 1:87:0,42 1:66:0,26 . . . . . 1:49:0,20 1:92:0,41 . . . . . 2 179458002 47142;rs2303836 G A 146.54 . #_unique_end_positions=,19;#_unique_start_positions=,18;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0008;AF_ESP_clinvar_20171029_hg19=,0.0020;AF_EXAC_clinvar_20171029_hg19=,0.03070;AF_TGP_clinvar_20171029_hg19=,0.0344;ALLELEID_clinvar_20171029_hg19=,56307;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1571;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.27;CAF_dbsnp_common_v150_hg19_refseq=,0.9657|0.03435;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1837342|OMIM:608807|Orphanet:ORPHA140922|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1858763|OMIM:604145|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy|_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179458002G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:114625;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.54010C>T|_NM_001267550.2:c.58933C>T|_NM_003319.4:c.31738C>T|_NM_133378.4:c.51229C>T|_NM_133432.3:c.32113C>T|_NM_133437.4:c.32314C>T;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.58933C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0565;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,19;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273|TTN-AS1:100506866;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:100506866|GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:44124|HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN-AS1|TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6048|gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,146.53559774527022;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179458002;RS_dbsnp_common_v150_hg19_refseq=,2303836;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,20;Read_coverage=,41;Read_direction_test_probability=,0.9559241848443548;Read_position_test_probability=,0.907428658120663;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,22;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0051;SF=25;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.989113|0.0108867;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128080305150537000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.0365854;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.0882353;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.00568182;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0581395;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.152941;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.19;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:100506866|HGNC:HGNC:44124|GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN_antisense_RNA_1|titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN-AS1|TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lncRNA|protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon127:c.C31738T:p.L10580L,TTN:NM_133432:exon128:c.C32113T:p.L10705L,TTN:NM_133437:exon128:c.C32314T:p.L10772L,TTN:NM_133378:exon248:c.C51229T:p.L17077L,TTN:NM_001256850:exon249:c.C54010T:p.L18004L,TTN:NM_001267550:exon299:c.C58933T:p.L19645L;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0020;esp6500siv2_ea=0.0017;esp6500siv2_all=0.0020;esp6500siv2_ea=0.0017;1000g2015aug_all=0.034345;avsnp147=rs2303836;Kaviar_AF=0.0278392;Kaviar_AC=4304;Kaviar_AN=154602;ExAC_ALL=0.0307;ExAC_AFR=0.0030;ExAC_AMR=0.2439;ExAC_EAS=0.0717;ExAC_FIN=0.0015;ExAC_NFE=0.0023;ExAC_OTH=0.0122;ExAC_SAS=0.0048;CLNALLELEID=56307;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.3299;dpsi_zscore=-0.896;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0374;gnomAD_exome_AFR=0.0031;gnomAD_exome_AMR=0.2223;gnomAD_exome_ASJ=0.0009;gnomAD_exome_EAS=0.0664;gnomAD_exome_FIN=0.0020;gnomAD_exome_NFE=0.0017;gnomAD_exome_OTH=0.0321;gnomAD_exome_SAS=0.0045;gnomAD_genome_ALL=0.0108;gnomAD_genome_AFR=0.0032;gnomAD_genome_AMR=0.1742;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0.0663;gnomAD_genome_FIN=0.0032;gnomAD_genome_NFE=0.0026;gnomAD_genome_OTH=0.0072;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . 1:39:0,20 . . . . . . . . . . . . . . . . 2 179458591 47136;rs2288569 C T 191.13 . #_unique_end_positions=,24;#_unique_start_positions=,22;AC=12;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0666;AF_ESP_clinvar_20171029_hg19=,0.1252;AF_EXAC_clinvar_20171029_hg19=,0.17611;AF_TGP_clinvar_20171029_hg19=,0.2125;ALLELEID_clinvar_20171029_hg19=,56301;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1513;AN=12;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_003310.4:p.Arg10414His|_NP_597681.4:p.Arg10606His|_NP_001254479.2:p.Arg19479His|_NP_001243779.1:p.Arg17838His|_NP_597676.3:p.Arg10539His|_NP_596869.4:p.Arg16911His;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Arg19479His;BaseQRankSum=,-0.16;CAF_dbsnp_common_v150_hg19_refseq=,0.7875|0.2125;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179458591C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:27114;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.53513G>A|_NM_001267550.2:c.58436G>A|_NM_003319.4:c.31241G>A|_NM_133378.4:c.50732G>A|_NM_133432.3:c.31616G>A|_NM_133437.4:c.31817G>A;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.58436G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4544;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1402;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,27;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273|TTN-AS1:100506866;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:100506866|GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:44124|HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN-AS1|TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6048|gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179458591;RS_dbsnp_common_v150_hg19_refseq=,2288569;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,28;Read_coverage=,67;Read_direction_test_probability=,0.9789319509099031;Read_position_test_probability=,0.962428685020632;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,40;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2781;SF=1,10,14,16,19,20,27,28,29,35,36;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.85703|0.14297;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128080a0515053f000101;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.0816327;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.125;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.402439;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.376471;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.278409;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.313953;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.441176;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.0393258;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.0816327;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.0174825;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.142045;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0909091;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:100506866|HGNC:HGNC:44124|GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN_antisense_RNA_1|titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN-AS1|TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lncRNA|protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon126:c.G31241A:p.R10414H,TTN:NM_133432:exon127:c.G31616A:p.R10539H,TTN:NM_133437:exon127:c.G31817A:p.R10606H,TTN:NM_133378:exon247:c.G50732A:p.R16911H,TTN:NM_001256850:exon248:c.G53513A:p.R17838H,TTN:NM_001267550:exon298:c.G58436A:p.R19479H;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.1252;esp6500siv2_ea=0.1473;esp6500siv2_all=0.1252;esp6500siv2_ea=0.1473;1000g2015aug_all=0.21246;avsnp147=rs2288569;Kaviar_AF=0.17005;Kaviar_AC=26290;Kaviar_AN=154602;ExAC_ALL=0.1761;ExAC_AFR=0.0680;ExAC_AMR=0.1530;ExAC_EAS=0.4317;ExAC_FIN=0.1475;ExAC_NFE=0.1465;ExAC_OTH=0.1700;ExAC_SAS=0.2603;CLNALLELEID=56301;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.032;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.996;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=2.78;MutationAssessor_pred=M;FATHMM_score=0.93;FATHMM_pred=T;PROVEAN_score=-3.67;PROVEAN_pred=D;VEST3_score=0.263;CADD_raw=4.706;CADD_phred=24.6;DANN_score=0.949;fathmm-MKL_coding_score=0.998;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.027;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.476;integrated_confidence_value=0;GERP++_RS=6.16;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.999;phastCons20way_mammalian=0.999;SiPhy_29way_logOdds=20.860;GDI_full_10282015=.;dpsi_max_tissue=-1.5140;dpsi_zscore=-1.722;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1779;gnomAD_exome_AFR=0.0706;gnomAD_exome_AMR=0.1504;gnomAD_exome_ASJ=0.1736;gnomAD_exome_EAS=0.4305;gnomAD_exome_FIN=0.1517;gnomAD_exome_NFE=0.1453;gnomAD_exome_OTH=0.1625;gnomAD_exome_SAS=0.2654;gnomAD_genome_ALL=0.1454;gnomAD_genome_AFR=0.0751;gnomAD_genome_AMR=0.1619;gnomAD_genome_ASJ=0.1225;gnomAD_genome_EAS=0.4370;gnomAD_genome_FIN=0.1476;gnomAD_genome_NFE=0.1540;gnomAD_genome_OTH=0.1656;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 . 1:61:0,25 . . . . . . . . 1:95:0,31 . . . 1:98:0,42 . 1:74:0,35 . . 1/1:66:0,66 1:100:0,46 . . . . . . 1:102:0,48 1:93:0,37 1:83:0,42 . . . . . 1:60:0,32 1:64:0,33 . . . . . 2 179462494 47120;rs35833641 A G 200.00 . #_unique_end_positions=,40;#_unique_start_positions=,37;AC=21;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0053;AF_ESP_clinvar_20171029_hg19=,0.2200;AF_EXAC_clinvar_20171029_hg19=,0.23487;AF_TGP_clinvar_20171029_hg19=,0.1270;ALLELEID_clinvar_20171029_hg19=,56285;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1124;AN=21;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.873|0.127;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179462494A>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:26840;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.52392T>C|_NM_001267550.2:c.57315T>C|_NM_003319.4:c.30120T>C|_NM_133378.4:c.49611T>C|_NM_133432.3:c.30495T>C|_NM_133437.4:c.30696T>C;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.57315T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0387;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3072;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,65;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273|TTN-AS1:100506866;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:100506866|GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:44124|HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN-AS1|TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6048|gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179462494;RS_dbsnp_common_v150_hg19_refseq=,35833641;Read_count=,58;Read_coverage=,112;Read_direction_test_probability=,0.9950429697928939;Read_position_test_probability=,0.9891799378293267;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,47;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2076;SF=0,2,4,5,6,7,10,11,17,23,26,31,32,33,36,38,39;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.825503|0.174497;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05012808030515053e000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.996;db_xref=,GeneID:100506866|HGNC:HGNC:44124|GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN_antisense_RNA_1|titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN-AS1|TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lncRNA|protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon122:c.T30120C:p.H10040H,TTN:NM_133432:exon123:c.T30495C:p.H10165H,TTN:NM_133437:exon123:c.T30696C:p.H10232H,TTN:NM_133378:exon243:c.T49611C:p.H16537H,TTN:NM_001256850:exon244:c.T52392C:p.H17464H,TTN:NM_001267550:exon294:c.T57315C:p.H19105H;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.2200;esp6500siv2_ea=0.3001;esp6500siv2_all=0.2200;esp6500siv2_ea=0.3001;1000g2015aug_all=0.126997;avsnp147=rs35833641;Kaviar_AF=0.234699;Kaviar_AC=36285;Kaviar_AN=154602;ExAC_ALL=0.2349;ExAC_AFR=0.0467;ExAC_AMR=0.0967;ExAC_EAS=0.0374;ExAC_FIN=0.3973;ExAC_NFE=0.3002;ExAC_OTH=0.2517;ExAC_SAS=0.2132;CLNALLELEID=56285;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.2510;dpsi_zscore=0.815;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2340;gnomAD_exome_AFR=0.0463;gnomAD_exome_AMR=0.1099;gnomAD_exome_ASJ=0.2084;gnomAD_exome_EAS=0.0383;gnomAD_exome_FIN=0.3816;gnomAD_exome_NFE=0.3054;gnomAD_exome_OTH=0.2318;gnomAD_exome_SAS=0.2154;gnomAD_genome_ALL=0.2329;gnomAD_genome_AFR=0.0521;gnomAD_genome_AMR=0.1277;gnomAD_genome_ASJ=0.1954;gnomAD_genome_EAS=0.0432;gnomAD_genome_FIN=0.3889;gnomAD_genome_NFE=0.3235;gnomAD_genome_OTH=0.3035;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 1:103:0,53 . 1/1:72:0,72 . 1:72:0,34 1:78:0,39 1:93:0,53 1/1:102:0,102 . . 1:115:0,57 1:60:0,27 . . . . . 1:93:0,43 . . . . . 1:90:0,34 . . 1/1:94:0,94 . . . . 1:71:0,36 1:110:0,61 1/1:81:0,81 . . 1:109:0,52 . 1:93:0,38 1:85:0,41 . . 2 179463576 . A G 200.00 . #_unique_end_positions=,32;#_unique_start_positions=,30;AC=1;AN=1;Amino_acid_change=,NP_597676.3:p.Ile10014Thr|_NP_596869.4:p.Ile16386Thr|_NP_597681.4:p.Ile10081Thr|_NP_001254479.2:p.Ile18954Thr|_NP_001243779.1:p.Ile17313Thr|_NP_003310.4:p.Ile9889Thr;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Ile18954Thr;BaseQRankSum=,-0.07;Coding_region_change=,NM_001256850.1:c.51938T>C|_NM_001267550.2:c.56861T>C|_NM_003319.4:c.29666T>C|_NM_133378.4:c.49157T>C|_NM_133432.3:c.30041T>C|_NM_133437.4:c.30242T>C;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.56861T>C;Forward_read_coverage=,42;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:100506866|GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:44124|HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN-AS1|TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6048|gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;Read_count=,41;Read_coverage=,109;Read_direction_test_probability=,0.9904639824439705;Read_position_test_probability=,0.9856186863734899;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,67;SF=39;conservation_score=,0.999;db_xref=,GeneID:100506866|HGNC:HGNC:44124|GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN_antisense_RNA_1|titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN-AS1|TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lncRNA|protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon119:c.T29666C:p.I9889T,TTN:NM_133432:exon120:c.T30041C:p.I10014T,TTN:NM_133437:exon120:c.T30242C:p.I10081T,TTN:NM_133378:exon240:c.T49157C:p.I16386T,TTN:NM_001256850:exon241:c.T51938C:p.I17313T,TTN:NM_001267550:exon291:c.T56861C:p.I18954T;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.243;SIFT_pred=T;Polyphen2_HDIV_score=0.959;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.629;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_pred=.;MutationTaster_score=0.999;MutationTaster_pred=D;MutationAssessor_score=0.745;MutationAssessor_pred=N;FATHMM_score=0.54;FATHMM_pred=T;PROVEAN_score=-3.03;PROVEAN_pred=D;VEST3_score=0.479;CADD_raw=2.259;CADD_phred=17.90;DANN_score=0.905;fathmm-MKL_coding_score=0.982;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.782;MetaSVM_pred=T;MetaLR_score=0.170;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=6.05;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.199;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=0.998;SiPhy_29way_logOdds=16.593;GDI_full_10282015=.;dpsi_max_tissue=-0.0592;dpsi_zscore=-0.305;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.08e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=9.022e-06;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:99:0,40 . . 2 179463991 47111;rs72646827 C T 200.00 . #_unique_end_positions=,38;#_unique_start_positions=,30;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0085;AF_EXAC_clinvar_20171029_hg19=,0.00892;AF_TGP_clinvar_20171029_hg19=,0.0036;ALLELEID_clinvar_20171029_hg19=,56276;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0058;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.06;CAF_dbsnp_common_v150_hg19_refseq=,0.9964|0.003594;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1837342|OMIM:608807|Orphanet:ORPHA140922|MedGen:C1858763|OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNDN_clinvar_20171029_hg19=,Limb-girdle_muscular_dystrophy|_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179463991C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.51606G>A|_NM_001267550.2:c.56529G>A|_NM_003319.4:c.29334G>A|_NM_133378.4:c.48825G>A|_NM_133432.3:c.29709G>A|_NM_133437.4:c.29910G>A;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.56529G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0099;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,49;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273|TTN-AS1:100506866;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:100506866|GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:44124|HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN-AS1|TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6048|gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179463991;RS_dbsnp_common_v150_hg19_refseq=,72646827;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,45;Read_coverage=,104;Read_direction_test_probability=,0.9916884671949007;Read_position_test_probability=,0.8997534066681292;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,55;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0041;SF=33;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.994162|0.00583831;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050028080305040436000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.99;db_xref=,GeneID:100506866|HGNC:HGNC:44124|GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN_antisense_RNA_1|titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN-AS1|TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lncRNA|protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon118:c.G29334A:p.T9778T,TTN:NM_133432:exon119:c.G29709A:p.T9903T,TTN:NM_133437:exon119:c.G29910A:p.T9970T,TTN:NM_133378:exon239:c.G48825A:p.T16275T,TTN:NM_001256850:exon240:c.G51606A:p.T17202T,TTN:NM_001267550:exon290:c.G56529A:p.T18843T;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0085;esp6500siv2_ea=0.0110;esp6500siv2_all=0.0085;esp6500siv2_ea=0.0110;1000g2015aug_all=0.00359425;avsnp147=rs72646827;Kaviar_AF=0.0086933;Kaviar_AC=1344;Kaviar_AN=154602;ExAC_ALL=0.0089;ExAC_AFR=0.0017;ExAC_AMR=0.0085;ExAC_EAS=0;ExAC_FIN=0.0041;ExAC_NFE=0.0122;ExAC_OTH=0.0025;ExAC_SAS=0.0066;CLNALLELEID=56276;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1122;dpsi_zscore=-0.485;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0080;gnomAD_exome_AFR=0.0018;gnomAD_exome_AMR=0.0086;gnomAD_exome_ASJ=0.0016;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0047;gnomAD_exome_NFE=0.0122;gnomAD_exome_OTH=0.0047;gnomAD_exome_SAS=0.0046;gnomAD_genome_ALL=0.0069;gnomAD_genome_AFR=0.0028;gnomAD_genome_AMR=0.0036;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0052;gnomAD_genome_NFE=0.0107;gnomAD_genome_OTH=0.0071;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:99:0,41 . . . . . . . . 2 179464527 47110;rs1001238 T C 176.94 . #_unique_end_positions=,18;#_unique_start_positions=,18;AC=21;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5688;AF_ESP_clinvar_20171029_hg19=,0.3221;AF_EXAC_clinvar_20171029_hg19=,0.35535;ALLELEID_clinvar_20171029_hg19=,56275;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4078;AN=21;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_003310.4:p.Asn9636Asp|_NP_597676.3:p.Asn9761Asp|_NP_001254479.2:p.Asn18701Asp|_NP_596869.4:p.Asn16133Asp|_NP_597681.4:p.Asn9828Asp|_NP_001243779.1:p.Asn17060Asp;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Asn18701Asp;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.4872|0.5128;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179464527T>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:27081;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.51178A>G|_NM_001267550.2:c.56101A>G|_NM_003319.4:c.28906A>G|_NM_133378.4:c.48397A>G|_NM_133432.3:c.29281A>G|_NM_133437.4:c.29482A>G;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.56101A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7252;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2535;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,24;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273|TTN-AS1:100506866;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:100506866|GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:44124|HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN-AS1|TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6048|gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,104.45513655360642;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179464527;RS_dbsnp_common_v150_hg19_refseq=,1001238;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,23;Read_coverage=,67;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9349562005697455;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,43;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5593;SF=0,1,5,10,12,14,15,16,17,19,20,27,28,29,35,36,37,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.588055|0.411945;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050328080a0517053f000101;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.520408;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.20354;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.695122;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.670588;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.505682;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.639535;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.662791;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.561111;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.35;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.391608;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.255682;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.615044;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.998;db_xref=,GeneID:100506866|HGNC:HGNC:44124|GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN_antisense_RNA_1|titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN-AS1|TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lncRNA|protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon117:c.A28906G:p.N9636D,TTN:NM_133432:exon118:c.A29281G:p.N9761D,TTN:NM_133437:exon118:c.A29482G:p.N9828D,TTN:NM_133378:exon238:c.A48397G:p.N16133D,TTN:NM_001256850:exon239:c.A51178G:p.N17060D,TTN:NM_001267550:exon289:c.A56101G:p.N18701D;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.3221;esp6500siv2_ea=0.2261;esp6500siv2_all=0.3221;esp6500siv2_ea=0.2261;1000g2015aug_all=0.51278;avsnp147=rs1001238;Kaviar_AF=0.340966;Kaviar_AC=52714;Kaviar_AN=154602;ExAC_ALL=0.3554;ExAC_AFR=0.5425;ExAC_AMR=0.4347;ExAC_EAS=0.7062;ExAC_FIN=0.2783;ExAC_NFE=0.2340;ExAC_OTH=0.3348;ExAC_SAS=0.5330;CLNALLELEID=56275;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.966;MutationTaster_pred=P;MutationAssessor_score=-0.505;MutationAssessor_pred=N;FATHMM_score=1.07;FATHMM_pred=T;PROVEAN_score=2.87;PROVEAN_pred=N;VEST3_score=0.016;CADD_raw=2.157;CADD_phred=17.23;DANN_score=0.932;fathmm-MKL_coding_score=0.044;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.985;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.6;phyloP7way_vertebrate=0.002;phyloP20way_mammalian=0.069;phastCons7way_vertebrate=0.991;phastCons20way_mammalian=0.996;SiPhy_29way_logOdds=14.793;GDI_full_10282015=.;dpsi_max_tissue=1.2196;dpsi_zscore=1.645;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3549;gnomAD_exome_AFR=0.5436;gnomAD_exome_AMR=0.4338;gnomAD_exome_ASJ=0.2897;gnomAD_exome_EAS=0.7114;gnomAD_exome_FIN=0.2797;gnomAD_exome_NFE=0.2276;gnomAD_exome_OTH=0.3142;gnomAD_exome_SAS=0.5230;gnomAD_genome_ALL=0.3528;gnomAD_genome_AFR=0.5360;gnomAD_genome_AMR=0.4139;gnomAD_genome_ASJ=0.2517;gnomAD_genome_EAS=0.7006;gnomAD_genome_FIN=0.2691;gnomAD_genome_NFE=0.2319;gnomAD_genome_OTH=0.3041;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 1:59:0,20 1:63:0,20 . . . 1:51:0,22 . . . . 1:65:0,42 . 1:56:0,31 . 1:66:0,30 1:67:0,31 1:60:0,25 1:55:0,21 . 1/1:62:0,62 1:71:0,30 . . . . . . 1:75:0,39 1:99:0,47 1:77:0,32 . . . . . 1/1:73:0,73 1:71:0,27 1:54:0,30 . . 1:79:0,38 1:62:0,32 2 179467100 47099;rs62178963 C T 200.00 . #_unique_end_positions=,39;#_unique_start_positions=,36;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0105;AF_EXAC_clinvar_20171029_hg19=,0.00704;AF_TGP_clinvar_20171029_hg19=,0.0018;ALLELEID_clinvar_20171029_hg19=,56264;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.22;CAF_dbsnp_common_v150_hg19_refseq=,0.9982|0.001797;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1837342|OMIM:608807|Orphanet:ORPHA140922|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1858763|OMIM:604145|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy|_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179467100C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_conflicting_interpretations;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:142606;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.50106G>A|_NM_001267550.2:c.55029G>A|_NM_003319.4:c.27834G>A|_NM_133378.4:c.47325G>A|_NM_133432.3:c.28209G>A|_NM_133437.4:c.28410G>A;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.55029G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0070;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,62;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273|TTN-AS1:100506866;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:100506866|GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:44124|HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN-AS1|TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6048|gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179467100;RS_dbsnp_common_v150_hg19_refseq=,62178963;Read_count=,62;Read_coverage=,102;Read_direction_test_probability=,0.9770097849139957;Read_position_test_probability=,0.9410645367513845;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,40;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0020;SF=16;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.9898|0.0101999;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050028080305040536000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.991;db_xref=,GeneID:100506866|HGNC:HGNC:44124|GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN_antisense_RNA_1|titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN-AS1|TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lncRNA|protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon111:c.G27834A:p.R9278R,TTN:NM_133432:exon112:c.G28209A:p.R9403R,TTN:NM_133437:exon112:c.G28410A:p.R9470R,TTN:NM_133378:exon232:c.G47325A:p.R15775R,TTN:NM_001256850:exon233:c.G50106A:p.R16702R,TTN:NM_001267550:exon283:c.G55029A:p.R18343R;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0105;esp6500siv2_ea=0.0133;esp6500siv2_all=0.0105;esp6500siv2_ea=0.0133;1000g2015aug_all=0.00179712;avsnp147=rs62178963;Kaviar_AF=0.0074061;Kaviar_AC=1145;Kaviar_AN=154602;ExAC_ALL=0.0070;ExAC_AFR=0.0024;ExAC_AMR=0.0025;ExAC_EAS=0;ExAC_FIN=0.0112;ExAC_NFE=0.0106;ExAC_OTH=0.0067;ExAC_SAS=0.0007;CLNALLELEID=56264;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0082;dpsi_zscore=0.056;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0073;gnomAD_exome_AFR=0.0026;gnomAD_exome_AMR=0.0025;gnomAD_exome_ASJ=0.0021;gnomAD_exome_EAS=5.861e-05;gnomAD_exome_FIN=0.0103;gnomAD_exome_NFE=0.0120;gnomAD_exome_OTH=0.0097;gnomAD_exome_SAS=0.0009;gnomAD_genome_ALL=0.0090;gnomAD_genome_AFR=0.0025;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0149;gnomAD_genome_NFE=0.0132;gnomAD_genome_OTH=0.0041;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . 1:83:0,47 . . . . . . . . . . . . . . . . . . . . . . . . . 2 179469438 . A G 200.00 . #_unique_end_positions=,29;#_unique_start_positions=,23;AC=1;AN=1;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.24;Coding_region_change=,NM_001256850.1:c.49455T>C|_NM_001267550.2:c.54378T>C|_NM_003319.4:c.27183T>C|_NM_133378.4:c.46674T>C|_NM_133432.3:c.27558T>C|_NM_133437.4:c.27759T>C;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.54378T>C;Forward_read_coverage=,49;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:100506866|GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:44124|HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN-AS1|TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6048|gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;Read_count=,35;Read_coverage=,68;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9710618012741546;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,19;SF=36;conservation_score=,0.985;db_xref=,GeneID:100506866|HGNC:HGNC:44124|GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN_antisense_RNA_1|titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN-AS1|TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lncRNA|protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon109:c.T27183C:p.Y9061Y,TTN:NM_133432:exon110:c.T27558C:p.Y9186Y,TTN:NM_133437:exon110:c.T27759C:p.Y9253Y,TTN:NM_133378:exon230:c.T46674C:p.Y15558Y,TTN:NM_001256850:exon231:c.T49455C:p.Y16485Y,TTN:NM_001267550:exon281:c.T54378C:p.Y18126Y;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs769624146;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=8.537e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.52e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.2613;dpsi_zscore=0.831;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=1.246e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0;gnomAD_exome_NFE=9.104e-06;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:65:0,34 . . . . . 2 179473176 332841 A C 200.00 . #_unique_end_positions=,46;#_unique_start_positions=,41;AC=1;AF_EXAC_clinvar_20171029_hg19=,0.00004;ALLELEID_clinvar_20171029_hg19=,283328;AN=1;Amino_acid_change=,NP_001243779.1:p.Ile15837Met|_NP_597676.3:p.Ile8538Met|_NP_001254479.2:p.Ile17478Met|_NP_596869.4:p.Ile14910Met|_NP_003310.4:p.Ile8413Met|_NP_597681.4:p.Ile8605Met;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Ile17478Met;BaseQRankSum=,0.35;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179473176A>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_single_submitter;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:448798;Coding_region_change=,NM_001256850.1:c.47511T>G|_NM_001267550.2:c.52434T>G|_NM_003319.4:c.25239T>G|_NM_133378.4:c.44730T>G|_NM_133432.3:c.25614T>G|_NM_133437.4:c.25815T>G;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.52434T>G;Exact_match=,clinvar_20171029_hg19;Forward_read_coverage=,69;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:100506866|GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,A/C;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:44124|HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN-AS1|TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6048|gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;Read_count=,60;Read_coverage=,114;Read_direction_test_probability=,0.8896549538861225;Read_position_test_probability=,0.6951131795437412;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,45;SF=26;conservation_score=,1.0;db_xref=,GeneID:100506866|HGNC:HGNC:44124|GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN_antisense_RNA_1|titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN-AS1|TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lncRNA|protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon103:c.T25239G:p.I8413M,TTN:NM_133432:exon104:c.T25614G:p.I8538M,TTN:NM_133437:exon104:c.T25815G:p.I8605M,TTN:NM_133378:exon224:c.T44730G:p.I14910M,TTN:NM_001256850:exon225:c.T47511G:p.I15837M,TTN:NM_001267550:exon275:c.T52434G:p.I17478M;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs554368924;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;ExAC_ALL=3.479e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=6.384e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=283328;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.223;SIFT_pred=T;Polyphen2_HDIV_score=0.304;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.123;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.991;MutationTaster_pred=N;MutationAssessor_score=0.6;MutationAssessor_pred=N;FATHMM_score=0.41;FATHMM_pred=T;PROVEAN_score=-1.13;PROVEAN_pred=N;VEST3_score=0.149;CADD_raw=0.240;CADD_phred=5.098;DANN_score=0.845;fathmm-MKL_coding_score=0.740;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.000;MetaSVM_pred=T;MetaLR_score=0.086;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=1.4;phyloP7way_vertebrate=0.126;phyloP20way_mammalian=1.199;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=0.986;SiPhy_29way_logOdds=4.464;GDI_full_10282015=.;dpsi_max_tissue=-0.0303;dpsi_zscore=-0.166;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=2.991e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=6.65e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . 1:110:0,58 . . . . . . . . . . . . . . . 2 179474668 47053;rs16866412 G A 200.00 . #_unique_end_positions=,44;#_unique_start_positions=,40;AC=3;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0870;AF_ESP_clinvar_20171029_hg19=,0.0302;AF_EXAC_clinvar_20171029_hg19=,0.03465;AF_TGP_clinvar_20171029_hg19=,0.0727;ALLELEID_clinvar_20171029_hg19=,56218;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0216;AN=3;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_597681.4:p.Ala8288Val|_NP_001254479.2:p.Ala17161Val|_NP_597676.3:p.Ala8221Val|_NP_596869.4:p.Ala14593Val|_NP_003310.4:p.Ala8096Val|_NP_001243779.1:p.Ala15520Val;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Ala17161Val;BaseQRankSum=,0.13;CAF_dbsnp_common_v150_hg19_refseq=,0.9273|0.07268;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1837342|OMIM:608807|Orphanet:ORPHA140922|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1858763|OMIM:604145|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy|_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179474668G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:27101;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.46559C>T|_NM_001267550.2:c.51482C>T|_NM_003319.4:c.24287C>T|_NM_133378.4:c.43778C>T|_NM_133432.3:c.24662C>T|_NM_133437.4:c.24863C>T;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.51482C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1558;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0209;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,82;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273|TTN-AS1:100506866;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:100506866|GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:44124|HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN-AS1|TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6048|gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179474668;RS_dbsnp_common_v150_hg19_refseq=,16866412;Read_count=,52;Read_coverage=,127;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.4445239398270697;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,45;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0573;SF=12,37,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.958651|0.041349;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128080a05150537000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.0612245;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0132743;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.109756;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.129412;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.0284091;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.209302;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.156977;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.111111;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.01;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.0629371;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.0227273;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0530973;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.975;db_xref=,GeneID:100506866|HGNC:HGNC:44124|GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN_antisense_RNA_1|titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN-AS1|TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lncRNA|protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon100:c.C24287T:p.A8096V,TTN:NM_133432:exon101:c.C24662T:p.A8221V,TTN:NM_133437:exon101:c.C24863T:p.A8288V,TTN:NM_133378:exon221:c.C43778T:p.A14593V,TTN:NM_001256850:exon222:c.C46559T:p.A15520V,TTN:NM_001267550:exon272:c.C51482T:p.A17161V;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0302;esp6500siv2_ea=0.0131;esp6500siv2_all=0.0302;esp6500siv2_ea=0.0131;1000g2015aug_all=0.0726837;avsnp147=rs16866412;Kaviar_AF=0.0323605;Kaviar_AC=5003;Kaviar_AN=154602;ExAC_ALL=0.0347;ExAC_AFR=0.0748;ExAC_AMR=0.0123;ExAC_EAS=0.1293;ExAC_FIN=0.0384;ExAC_NFE=0.0140;ExAC_OTH=0.0378;ExAC_SAS=0.0597;CLNALLELEID=56218;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.033;SIFT_pred=D;Polyphen2_HDIV_score=0.989;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.751;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_pred=.;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=1.45;MutationAssessor_pred=L;FATHMM_score=0.3;FATHMM_pred=T;PROVEAN_score=-2.73;PROVEAN_pred=D;VEST3_score=0.307;CADD_raw=3.431;CADD_phred=23.0;DANN_score=0.976;fathmm-MKL_coding_score=0.996;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.155;MetaSVM_pred=T;MetaLR_score=0.002;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.7;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.075;phastCons7way_vertebrate=0.973;phastCons20way_mammalian=0.936;SiPhy_29way_logOdds=19.842;GDI_full_10282015=.;dpsi_max_tissue=-0.0048;dpsi_zscore=-0.003;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM174034#"Decreased_adult_height_association_with";gnomAD_exome_ALL=0.0340;gnomAD_exome_AFR=0.0736;gnomAD_exome_AMR=0.0132;gnomAD_exome_ASJ=0.0257;gnomAD_exome_EAS=0.1329;gnomAD_exome_FIN=0.0403;gnomAD_exome_NFE=0.0126;gnomAD_exome_OTH=0.0285;gnomAD_exome_SAS=0.0580;gnomAD_genome_ALL=0.0396;gnomAD_genome_AFR=0.0760;gnomAD_genome_AMR=0.0156;gnomAD_genome_ASJ=0.0199;gnomAD_genome_EAS=0.1320;gnomAD_genome_FIN=0.0392;gnomAD_genome_NFE=0.0117;gnomAD_genome_OTH=0.0265;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 . . . . . . . . . . . . 1:122:0,50 . . . . . . . . . . . . . . . . . . . . . . . . 1:102:0,48 . . . 1:122:0,52 2 179474928 . T A 200.00 . #_unique_end_positions=,46;#_unique_start_positions=,32;AC=1;AN=1;Amino_acid_change=,NP_596869.4:p.Lys14541*|_NP_597681.4:p.Lys8236*|_NP_001254479.2:p.Lys17109*|_NP_003310.4:p.Lys8044*|_NP_597676.3:p.Lys8169*|_NP_001243779.1:p.Lys15468*;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Lys17109*;BaseQRankSum=,-0.01;Coding_region_change=,NM_001256850.1:c.46402A>T|_NM_001267550.2:c.51325A>T|_NM_003319.4:c.24130A>T|_NM_133378.4:c.43621A>T|_NM_133432.3:c.24505A>T|_NM_133437.4:c.24706A>T;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.51325A>T;Forward_read_coverage=,59;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:100506866|GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,A/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:44124|HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN-AS1|TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6048|gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;Read_count=,71;Read_coverage=,144;Read_direction_test_probability=,0.9921236038023721;Read_position_test_probability=,0.7361135196376121;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,85;SF=20;conservation_score=,0.994;db_xref=,GeneID:100506866|HGNC:HGNC:44124|GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN_antisense_RNA_1|titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN-AS1|TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lncRNA|protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=stopgain;AAChange.refGene=TTN:NM_003319:exon99:c.A24130T:p.K8044X,TTN:NM_133432:exon100:c.A24505T:p.K8169X,TTN:NM_133437:exon100:c.A24706T:p.K8236X,TTN:NM_133378:exon220:c.A43621T:p.K14541X,TTN:NM_001256850:exon221:c.A46402T:p.K15468X,TTN:NM_001267550:exon271:c.A51325T:p.K17109X;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=A;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=21.211;CADD_phred=62;DANN_score=0.980;fathmm-MKL_coding_score=0.983;fathmm-MKL_coding_pred=D;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=0.651;integrated_confidence_value=0;GERP++_RS=5.48;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=0.964;phastCons7way_vertebrate=0.992;phastCons20way_mammalian=0.996;SiPhy_29way_logOdds=15.578;GDI_full_10282015=.;dpsi_max_tissue=-31.3450;dpsi_zscore=-3.370;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=12 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . 1:141:0,69 . . . . . . . . . . . . . . . . . . . . . 2 179477267 47037;rs36043230 T G 200.00 . #_unique_end_positions=,42;#_unique_start_positions=,38;AC=3;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0023;AF_ESP_clinvar_20171029_hg19=,0.0146;AF_EXAC_clinvar_20171029_hg19=,0.01604;AF_TGP_clinvar_20171029_hg19=,0.0064;ALLELEID_clinvar_20171029_hg19=,56202;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0086;AN=3;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_597681.4:p.Asn7789Thr|_NP_001254479.2:p.Asn16662Thr|_NP_003310.4:p.Asn7597Thr|_NP_596869.4:p.Asn14094Thr|_NP_597676.3:p.Asn7722Thr|_NP_001243779.1:p.Asn15021Thr;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Asn16662Thr;BaseQRankSum=,0.24;CAF_dbsnp_common_v150_hg19_refseq=,0.9936|.|0.00639;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1837342|OMIM:608807|Orphanet:ORPHA140922|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1858763|OMIM:604145|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy|_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179477267T>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:53932;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.45062A>C|_NM_001267550.2:c.49985A>C|_NM_003319.4:c.22790A>C|_NM_133378.4:c.42281A>C|_NM_133432.3:c.23165A>C|_NM_133437.4:c.23366A>C;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.49985A>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0169;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,51;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273|TTN-AS1:100506866;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:100506866|GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,G/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:44124|HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN-AS1|TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6048|gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179477267;RS_dbsnp_common_v150_hg19_refseq=,36043230;Read_count=,52;Read_coverage=,95;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9774000635334493;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,44;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0061;SF=3,28,32;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.988598|3.4343e-005|0.0113675;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128080a05040436000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:100506866|HGNC:HGNC:44124|GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN_antisense_RNA_1|titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN-AS1|TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lncRNA|protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon94:c.A22790C:p.N7597T,TTN:NM_133432:exon95:c.A23165C:p.N7722T,TTN:NM_133437:exon95:c.A23366C:p.N7789T,TTN:NM_133378:exon215:c.A42281C:p.N14094T,TTN:NM_001256850:exon216:c.A45062C:p.N15021T,TTN:NM_001267550:exon266:c.A49985C:p.N16662T;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0146;esp6500siv2_ea=0.0198;esp6500siv2_all=0.0146;esp6500siv2_ea=0.0198;1000g2015aug_all=0.00638978;avsnp147=rs36043230;Kaviar_AF=0.015472;Kaviar_AC=2392;Kaviar_AN=154602;ExAC_ALL=0.0160;ExAC_AFR=0.0042;ExAC_AMR=0.0080;ExAC_EAS=0;ExAC_FIN=0.0132;ExAC_NFE=0.0235;ExAC_OTH=0.0150;ExAC_SAS=0.0079;CLNALLELEID=56202;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.169;SIFT_pred=T;Polyphen2_HDIV_score=0.956;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.715;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_pred=.;MutationTaster_score=0.996;MutationTaster_pred=D;MutationAssessor_score=1.745;MutationAssessor_pred=L;FATHMM_score=0.35;FATHMM_pred=T;PROVEAN_score=-3.93;PROVEAN_pred=D;VEST3_score=0.296;CADD_raw=1.693;CADD_phred=14.37;DANN_score=0.911;fathmm-MKL_coding_score=0.929;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.719;MetaSVM_pred=T;MetaLR_score=0.135;MetaLR_pred=T;integrated_fitCons_score=0.638;integrated_confidence_value=0;GERP++_RS=5.71;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=1.061;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=15.977;GDI_full_10282015=.;dpsi_max_tissue=0.0639;dpsi_zscore=0.357;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0159;gnomAD_exome_AFR=0.0031;gnomAD_exome_AMR=0.0094;gnomAD_exome_ASJ=0.0546;gnomAD_exome_EAS=5.936e-05;gnomAD_exome_FIN=0.0141;gnomAD_exome_NFE=0.0211;gnomAD_exome_OTH=0.0202;gnomAD_exome_SAS=0.0077;gnomAD_genome_ALL=0.0141;gnomAD_genome_AFR=0.0031;gnomAD_genome_AMR=0.0072;gnomAD_genome_ASJ=0.0662;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0149;gnomAD_genome_NFE=0.0208;gnomAD_genome_OTH=0.0183;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 . . . 1:88:0,51 . . . . . . . . . . . . . . . . . . . . . . . . 1:121:0,48 . . . 1:64:0,33 . . . . . . . . . 2 179477717 47035;rs2115558 A G 184.51 . #_unique_end_positions=,26;#_unique_start_positions=,17;AC=3;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0885;AF_ESP_clinvar_20171029_hg19=,0.0306;AF_EXAC_clinvar_20171029_hg19=,0.03476;AF_TGP_clinvar_20171029_hg19=,0.0737;ALLELEID_clinvar_20171029_hg19=,56200;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0231;AN=3;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.46;CAF_dbsnp_common_v150_hg19_refseq=,0.9263|0.07368|.;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1837342|OMIM:608807|Orphanet:ORPHA140922|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1858763|OMIM:604145|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy|_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179477717A>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:27130;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.44808T>C|_NM_001267550.2:c.49731T>C|_NM_003319.4:c.22536T>C|_NM_133378.4:c.42027T>C|_NM_133432.3:c.22911T>C|_NM_133437.4:c.23112T>C;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.49731T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1577;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0209;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,71;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273|TTN-AS1:100506866;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:100506866|GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:44124|HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN-AS1|TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6048|gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,153.5252977886304;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179477717;RS_dbsnp_common_v150_hg19_refseq=,2115558;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,35;Read_coverage=,118;Read_direction_test_probability=,0.8740211517701186;Read_position_test_probability=,0.6642755285258828;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,47;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0573;SF=12,37,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.958514|0.0414864|.;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128080305150537000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.0612245;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0133929;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.109756;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.129412;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.0284091;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.209302;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.156977;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.122222;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.0102041;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.0633803;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.0227273;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0530973;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.681;db_xref=,GeneID:100506866|HGNC:HGNC:44124|GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN_antisense_RNA_1|titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN-AS1|TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lncRNA|protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon93:c.T22536C:p.H7512H,TTN:NM_133432:exon94:c.T22911C:p.H7637H,TTN:NM_133437:exon94:c.T23112C:p.H7704H,TTN:NM_133378:exon214:c.T42027C:p.H14009H,TTN:NM_001256850:exon215:c.T44808C:p.H14936H,TTN:NM_001267550:exon265:c.T49731C:p.H16577H;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0306;esp6500siv2_ea=0.0130;esp6500siv2_all=0.0306;esp6500siv2_ea=0.0130;1000g2015aug_all=0.0736821;avsnp147=rs2115558;Kaviar_AF=0.0325352;Kaviar_AC=5030;Kaviar_AN=154602;ExAC_ALL=0.0348;ExAC_AFR=0.0755;ExAC_AMR=0.0122;ExAC_EAS=0.1320;ExAC_FIN=0.0388;ExAC_NFE=0.0140;ExAC_OTH=0.0357;ExAC_SAS=0.0593;CLNALLELEID=56200;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1266;dpsi_zscore=-0.524;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0341;gnomAD_exome_AFR=0.0741;gnomAD_exome_AMR=0.0133;gnomAD_exome_ASJ=0.0257;gnomAD_exome_EAS=0.1344;gnomAD_exome_FIN=0.0403;gnomAD_exome_NFE=0.0126;gnomAD_exome_OTH=0.0290;gnomAD_exome_SAS=0.0579;gnomAD_genome_ALL=0.0398;gnomAD_genome_AFR=0.0765;gnomAD_genome_AMR=0.0156;gnomAD_genome_ASJ=0.0199;gnomAD_genome_EAS=0.1332;gnomAD_genome_FIN=0.0393;gnomAD_genome_NFE=0.0117;gnomAD_genome_OTH=0.0255;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 . . . . . . . . . . . . 1:106:0,34 . . . . . . . . . . . . . . . . . . . . . . . . 1:63:0,27 . . . 1:81:0,45 2 179479245 47026;rs72677244 C T 200.00 . #_unique_end_positions=,42;#_unique_start_positions=,31;AC=3;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0847;AF_ESP_clinvar_20171029_hg19=,0.0291;AF_EXAC_clinvar_20171029_hg19=,0.03416;AF_TGP_clinvar_20171029_hg19=,0.0725;ALLELEID_clinvar_20171029_hg19=,56191;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0231;AN=3;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.18;CAF_dbsnp_common_v150_hg19_refseq=,0.9275|0.07248;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1837342|OMIM:608807|Orphanet:ORPHA140922|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1858763|OMIM:604145|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy|_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179479245C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:27151;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.44073G>A|_NM_001267550.2:c.48996G>A|_NM_003319.4:c.21801G>A|_NM_133378.4:c.41292G>A|_NM_133432.3:c.22176G>A|_NM_133437.4:c.22377G>A;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.48996G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1567;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0209;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,58;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273|TTN-AS1:100506866;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:100506866|GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:100506866|GeneID:7273;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:44124|HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:44124|HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN-AS1|TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NR_038271.1|NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6048|gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8981|rna8982|rna8983|rna8984|rna8985|rna8986|rna8987;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6048|gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179479245;RS_dbsnp_common_v150_hg19_refseq=,72677244;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,56;Read_coverage=,128;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9476412648644295;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NR_038271.1|NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,70;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0573;SF=12,37,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.960093|0.0399066;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050328000305150436000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:100506866|HGNC:HGNC:44124|GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NR_038271.1|Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN_antisense_RNA_1|titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,ncRNA|mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN-AS1|TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN-AS1|TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lncRNA|protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN_antisense_RNA_1|_transcript_variant_2|titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NR_038271.1|NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,lnc_RNA|mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon89:c.G21801A:p.E7267E,TTN:NM_133432:exon90:c.G22176A:p.E7392E,TTN:NM_133437:exon90:c.G22377A:p.E7459E,TTN:NM_133378:exon210:c.G41292A:p.E13764E,TTN:NM_001256850:exon211:c.G44073A:p.E14691E,TTN:NM_001267550:exon261:c.G48996A:p.E16332E;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0291;esp6500siv2_ea=0.0127;esp6500siv2_all=0.0291;esp6500siv2_ea=0.0127;1000g2015aug_all=0.072484;avsnp147=rs72677244;Kaviar_AF=0.0318883;Kaviar_AC=4930;Kaviar_AN=154602;ExAC_ALL=0.0342;ExAC_AFR=0.0710;ExAC_AMR=0.0121;ExAC_EAS=0.1273;ExAC_FIN=0.0388;ExAC_NFE=0.0140;ExAC_OTH=0.0369;ExAC_SAS=0.0603;CLNALLELEID=56191;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0805;dpsi_zscore=0.420;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0335;gnomAD_exome_AFR=0.0699;gnomAD_exome_AMR=0.0130;gnomAD_exome_ASJ=0.0257;gnomAD_exome_EAS=0.1314;gnomAD_exome_FIN=0.0403;gnomAD_exome_NFE=0.0126;gnomAD_exome_OTH=0.0282;gnomAD_exome_SAS=0.0577;gnomAD_genome_ALL=0.0380;gnomAD_genome_AFR=0.0713;gnomAD_genome_AMR=0.0155;gnomAD_genome_ASJ=0.0199;gnomAD_genome_EAS=0.1286;gnomAD_genome_FIN=0.0392;gnomAD_genome_NFE=0.0117;gnomAD_genome_OTH=0.0244;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 . . . . . . . . . . . . 1:119:0,51 . . . . . . . . . . . . . . . . . . . . . . . . 1:81:0,34 . . . 1:126:0,73 2 179482089 47015;rs72677237 C T 200.00 . #_unique_end_positions=,25;#_unique_start_positions=,25;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0008;AF_ESP_clinvar_20171029_hg19=,0.0066;AF_EXAC_clinvar_20171029_hg19=,0.01130;AF_TGP_clinvar_20171029_hg19=,0.0030;ALLELEID_clinvar_20171029_hg19=,56180;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0086;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_003310.4:p.Arg6843His|_NP_596869.4:p.Arg13340His|_NP_597681.4:p.Arg7035His|_NP_597676.3:p.Arg6968His|_NP_001243779.1:p.Arg14267His|_NP_001254479.2:p.Arg15908His;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Arg15908His;BaseQRankSum=,0.75;CAF_dbsnp_common_v150_hg19_refseq=,0.997|0.002995;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1837342|OMIM:608807|Orphanet:ORPHA140922|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1858763|OMIM:604145|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy|_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179482089C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_conflicting_interpretations;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:134659;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.42800G>A|_NM_001267550.2:c.47723G>A|_NM_003319.4:c.20528G>A|_NM_133378.4:c.40019G>A|_NM_133432.3:c.20903G>A|_NM_133437.4:c.21104G>A;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.47723G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0060;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,22;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273|TTN-AS1:100506866;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:100506866|GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:44124|HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN-AS1|TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6048|gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179482089;RS_dbsnp_common_v150_hg19_refseq=,72677237;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,32;Read_coverage=,69;Read_direction_test_probability=,0.9944483564999802;Read_position_test_probability=,0.9171475218058581;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,47;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0020;SF=24;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.994746|0.00525448;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050328080a05040436000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:100506866|HGNC:HGNC:44124|GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN_antisense_RNA_1|titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN-AS1|TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lncRNA|protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon82:c.G20528A:p.R6843H,TTN:NM_133432:exon83:c.G20903A:p.R6968H,TTN:NM_133437:exon83:c.G21104A:p.R7035H,TTN:NM_133378:exon203:c.G40019A:p.R13340H,TTN:NM_001256850:exon204:c.G42800A:p.R14267H,TTN:NM_001267550:exon254:c.G47723A:p.R15908H;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0066;esp6500siv2_ea=0.0088;esp6500siv2_all=0.0066;esp6500siv2_ea=0.0088;1000g2015aug_all=0.00299521;avsnp147=rs72677237;Kaviar_AF=0.0064359;Kaviar_AC=995;Kaviar_AN=154602;ExAC_ALL=0.0113;ExAC_AFR=0.0025;ExAC_AMR=0.0103;ExAC_EAS=0;ExAC_FIN=0.0025;ExAC_NFE=0.0146;ExAC_OTH=0.0181;ExAC_SAS=0.0142;CLNALLELEID=56180;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.009;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.15;MutationAssessor_pred=M;FATHMM_score=0.48;FATHMM_pred=T;PROVEAN_score=-3.24;PROVEAN_pred=D;VEST3_score=0.448;CADD_raw=4.000;CADD_phred=23.6;DANN_score=0.955;fathmm-MKL_coding_score=0.986;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.422;MetaSVM_pred=T;MetaLR_score=0.293;MetaLR_pred=T;integrated_fitCons_score=0.651;integrated_confidence_value=0;GERP++_RS=5.93;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=0.998;SiPhy_29way_logOdds=20.351;GDI_full_10282015=.;dpsi_max_tissue=-0.0862;dpsi_zscore=-0.406;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0068;gnomAD_exome_AFR=0.0015;gnomAD_exome_AMR=0.0048;gnomAD_exome_ASJ=0.0229;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0022;gnomAD_exome_NFE=0.0075;gnomAD_exome_OTH=0.0106;gnomAD_exome_SAS=0.0110;gnomAD_genome_ALL=0.0044;gnomAD_genome_AFR=0.0008;gnomAD_genome_AMR=0.0084;gnomAD_genome_ASJ=0.0298;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0017;gnomAD_genome_NFE=0.0069;gnomAD_genome_OTH=0.0051;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . 1:66:0,29 . . . . . . . . . . . . . . . . . 2 179482763 47010;rs72677233 C T 200.00 . #_unique_end_positions=,41;#_unique_start_positions=,31;AC=3;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0034;AF_EXAC_clinvar_20171029_hg19=,0.00305;AF_TGP_clinvar_20171029_hg19=,0.0014;ALLELEID_clinvar_20171029_hg19=,56175;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0043;AN=3;Amino_acid_change=,NP_597681.4:p.Arg6899Gln|_NP_001254479.2:p.Arg15772Gln|_NP_001243779.1:p.Arg14131Gln|_NP_596869.4:p.Arg13204Gln|_NP_003310.4:p.Arg6707Gln|_NP_597676.3:p.Arg6832Gln;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Arg15772Gln;BaseQRankSum=,-0.52;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1837342|OMIM:608807|Orphanet:ORPHA140922|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1858763|OMIM:604145|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy|_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive|not_provided;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179482763C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_conflicting_interpretations;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:106588;Coding_region_change=,NM_001256850.1:c.42392G>A|_NM_001267550.2:c.47315G>A|_NM_003319.4:c.20120G>A|_NM_133378.4:c.39611G>A|_NM_133432.3:c.20495G>A|_NM_133437.4:c.20696G>A;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.47315G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0020;Exact_match=,clinvar_20171029_hg19|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,62;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:100506866|GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:44124|HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN-AS1|TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6048|gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;Read_count=,49;Read_coverage=,93;Read_direction_test_probability=,0.9770503963225291;Read_position_test_probability=,0.9968524559289035;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,31;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0020;SF=4,8,18;conservation_score=,0.993;db_xref=,GeneID:100506866|HGNC:HGNC:44124|GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN_antisense_RNA_1|titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN-AS1|TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lncRNA|protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon81:c.G20120A:p.R6707Q,TTN:NM_133432:exon82:c.G20495A:p.R6832Q,TTN:NM_133437:exon82:c.G20696A:p.R6899Q,TTN:NM_133378:exon202:c.G39611A:p.R13204Q,TTN:NM_001256850:exon203:c.G42392A:p.R14131Q,TTN:NM_001267550:exon253:c.G47315A:p.R15772Q;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0034;esp6500siv2_ea=0.0048;esp6500siv2_all=0.0034;esp6500siv2_ea=0.0048;1000g2015aug_all=0.00139776;avsnp147=rs72677233;Kaviar_AF=0.002956;Kaviar_AC=457;Kaviar_AN=154602;ExAC_ALL=0.0030;ExAC_AFR=0.0008;ExAC_AMR=0.0011;ExAC_EAS=0;ExAC_FIN=0.0005;ExAC_NFE=0.0047;ExAC_OTH=0.0078;ExAC_SAS=0.0012;CLNALLELEID=56175;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.068;SIFT_pred=T;Polyphen2_HDIV_score=0.574;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.195;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.987;MutationTaster_pred=D;MutationAssessor_score=1.045;MutationAssessor_pred=L;FATHMM_score=0.44;FATHMM_pred=T;PROVEAN_score=-2.48;PROVEAN_pred=N;VEST3_score=0.318;CADD_raw=2.469;CADD_phred=19.27;DANN_score=0.930;fathmm-MKL_coding_score=0.834;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.905;MetaSVM_pred=T;MetaLR_score=0.094;MetaLR_pred=T;integrated_fitCons_score=0.563;integrated_confidence_value=0;GERP++_RS=4.85;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.059;phastCons7way_vertebrate=0.996;phastCons20way_mammalian=0.909;SiPhy_29way_logOdds=15.227;GDI_full_10282015=.;dpsi_max_tissue=-0.0745;dpsi_zscore=-0.365;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0033;gnomAD_exome_AFR=0.0007;gnomAD_exome_AMR=0.0016;gnomAD_exome_ASJ=0.0315;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0004;gnomAD_exome_NFE=0.0030;gnomAD_exome_OTH=0.0063;gnomAD_exome_SAS=0.0017;gnomAD_genome_ALL=0.0019;gnomAD_genome_AFR=0.0003;gnomAD_genome_AMR=0.0036;gnomAD_genome_ASJ=0.0331;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0027;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=8 GT:DP:CLCAD2 . . . . 1:87:0,46 . . . 1:94:0,42 . . . . . . . . . 1:80:0,44 . . . . . . . . . . . . . . . . . . . . . . . 2 179485846 46991 G C 200.00 . #_unique_end_positions=,41;#_unique_start_positions=,40;AC=1;AF_ESP_clinvar_20171029_hg19=,0.0007;AF_EXAC_clinvar_20171029_hg19=,0.00043;ALLELEID_clinvar_20171029_hg19=,56156;AN=1;Amino_acid_change=,NP_003310.4:p.Ala6135Gly|_NP_597676.3:p.Ala6260Gly|_NP_596869.4:p.Ala12632Gly|_NP_001254479.2:p.Ala15200Gly|_NP_597681.4:p.Ala6327Gly|_NP_001243779.1:p.Ala13559Gly;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Ala15200Gly;BaseQRankSum=,0.18;CLNDISDBINCL_clinvar_20171029_hg19=,MedGen:CN169374;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1837342|OMIM:608807|Orphanet:ORPHA140922|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1858763|OMIM:604145|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNDNINCL_clinvar_20171029_hg19=,not_specified;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy|_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive|not_provided;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179485846G>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_conflicting_interpretations;CLNSIGINCL_clinvar_20171029_hg19=,424837:Uncertain_significance;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:163508;Coding_region_change=,NM_001256850.1:c.40676C>G|_NM_001267550.2:c.45599C>G|_NM_003319.4:c.18404C>G|_NM_133378.4:c.37895C>G|_NM_133432.3:c.18779C>G|_NM_133437.4:c.18980C>G;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.45599C>G;Exact_match=,clinvar_20171029_hg19;Forward_read_coverage=,53;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,C/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;Read_count=,68;Read_coverage=,129;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9974537077792981;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,76;SF=16;conservation_score=,1.0;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon74:c.C18404G:p.A6135G,TTN:NM_133432:exon75:c.C18779G:p.A6260G,TTN:NM_133437:exon75:c.C18980G:p.A6327G,TTN:NM_133378:exon195:c.C37895G:p.A12632G,TTN:NM_001256850:exon196:c.C40676G:p.A13559G,TTN:NM_001267550:exon246:c.C45599G:p.A15200G;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0007;esp6500siv2_ea=0.0010;esp6500siv2_all=0.0007;esp6500siv2_ea=0.0010;1000g2015aug_all=.;avsnp147=rs201057307;Kaviar_AF=0.0003558;Kaviar_AC=55;Kaviar_AN=154602;ExAC_ALL=0.0004;ExAC_AFR=0;ExAC_AMR=8.811e-05;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0007;ExAC_OTH=0.0022;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.053;SIFT_pred=T;Polyphen2_HDIV_score=0.434;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.182;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=2.445;MutationAssessor_pred=M;FATHMM_score=0.79;FATHMM_pred=T;PROVEAN_score=-2.82;PROVEAN_pred=D;VEST3_score=0.347;CADD_raw=2.918;CADD_phred=21.9;DANN_score=0.927;fathmm-MKL_coding_score=0.991;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.719;MetaSVM_pred=T;MetaLR_score=0.192;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.69;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.999;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=19.803;GDI_full_10282015=.;dpsi_max_tissue=-0.0604;dpsi_zscore=-0.310;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM152825#"Muscular_dystrophy_limb_girdle_adult_onset";gnomAD_exome_ALL=0.0006;gnomAD_exome_AFR=0;gnomAD_exome_AMR=5.993e-05;gnomAD_exome_ASJ=0.0116;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0002;gnomAD_exome_OTH=0.0006;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0002;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0166;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0001;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . 1:116:0,60 . . . . . . . . . . . . . . . . . . . . . . . . . 2 179485947 . G A 200.00 . #_unique_end_positions=,33;#_unique_start_positions=,22;AC=1;AN=1;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.31;Coding_region_change=,NM_001256850.1:c.40575C>T|_NM_001267550.2:c.45498C>T|_NM_003319.4:c.18303C>T|_NM_133378.4:c.37794C>T|_NM_133432.3:c.18678C>T|_NM_133437.4:c.18879C>T;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.45498C>T;Forward_read_coverage=,35;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;Read_count=,37;Read_coverage=,82;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.8417675543708214;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,47;SF=6;conservation_score=,0.001;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon74:c.C18303T:p.D6101D,TTN:NM_133432:exon75:c.C18678T:p.D6226D,TTN:NM_133437:exon75:c.C18879T:p.D6293D,TTN:NM_133378:exon195:c.C37794T:p.D12598D,TTN:NM_001256850:exon196:c.C40575T:p.D13525D,TTN:NM_001267550:exon246:c.C45498T:p.D15166D;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs752554634;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;ExAC_ALL=3.345e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0.0003;ExAC_NFE=3.019e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0312;dpsi_zscore=-0.171;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=2.863e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0002;gnomAD_exome_NFE=2.712e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=3.241e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.671e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . 1:81:0,37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2 179497018 46971;rs12471771 G A 200.00 . #_unique_end_positions=,28;#_unique_start_positions=,21;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0012;AF_EXAC_clinvar_20171029_hg19=,0.02098;AF_TGP_clinvar_20171029_hg19=,0.0162;ALLELEID_clinvar_20171029_hg19=,56136;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1167;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_597676.3:p.Arg5595Cys|_NP_001254479.2:p.Arg14535Cys|_NP_597681.4:p.Arg5662Cys|_NP_003310.4:p.Arg5470Cys|_NP_001243779.1:p.Arg12894Cys|_NP_596869.4:p.Arg11967Cys;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Arg14535Cys;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.9838|0.01617;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1837342|OMIM:608807|Orphanet:ORPHA140922|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1858763|OMIM:604145|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy|_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive|not_provided;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179497018G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:223309;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.38680C>T|_NM_001267550.2:c.43603C>T|_NM_003319.4:c.16408C>T|_NM_133378.4:c.35899C>T|_NM_133432.3:c.16783C>T|_NM_133437.4:c.16984C>T;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.43603C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,41;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179497018;RS_dbsnp_common_v150_hg19_refseq=,12471771;Read_count=,32;Read_coverage=,75;Read_direction_test_probability=,0.9948704562773982;Read_position_test_probability=,0.7557209112861485;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,34;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=25;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.992307|0.00769284;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050328000a05150537000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon64:c.C16408T:p.R5470C,TTN:NM_133432:exon65:c.C16783T:p.R5595C,TTN:NM_133437:exon65:c.C16984T:p.R5662C,TTN:NM_133378:exon185:c.C35899T:p.R11967C,TTN:NM_001256850:exon186:c.C38680T:p.R12894C,TTN:NM_001267550:exon236:c.C43603T:p.R14535C;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0011;esp6500siv2_ea=0.0007;esp6500siv2_all=0.0011;esp6500siv2_ea=0.0007;1000g2015aug_all=0.0161741;avsnp147=rs12471771;Kaviar_AF=0.015666;Kaviar_AC=2422;Kaviar_AN=154602;ExAC_ALL=0.0210;ExAC_AFR=0.0029;ExAC_AMR=0.2158;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0004;ExAC_OTH=0.0084;ExAC_SAS=7.732e-05;CLNALLELEID=56136;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.001;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.39;MutationAssessor_pred=M;FATHMM_score=-0.29;FATHMM_pred=T;PROVEAN_score=-5.17;PROVEAN_pred=D;VEST3_score=0.545;CADD_raw=3.684;CADD_phred=23.3;DANN_score=0.960;fathmm-MKL_coding_score=0.972;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.576;MetaSVM_pred=T;MetaLR_score=0.081;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.96;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.999;phastCons20way_mammalian=0.998;SiPhy_29way_logOdds=15.164;GDI_full_10282015=.;dpsi_max_tissue=-0.0569;dpsi_zscore=-0.295;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0235;gnomAD_exome_AFR=0.0027;gnomAD_exome_AMR=0.1664;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=6.011e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=9.244e-05;gnomAD_exome_OTH=0.0213;gnomAD_exome_SAS=6.706e-05;gnomAD_genome_ALL=0.0047;gnomAD_genome_AFR=0.0028;gnomAD_genome_AMR=0.1325;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0003;gnomAD_genome_OTH=0.0031;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . 1:74:0,32 . . . . . . . . . . . . . . . . 2 179497025 46970;rs16866423 A G 200.00 . #_unique_end_positions=,52;#_unique_start_positions=,43;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0008;AF_ESP_clinvar_20171029_hg19=,0.0028;AF_EXAC_clinvar_20171029_hg19=,0.02206;AF_TGP_clinvar_20171029_hg19=,0.0395;ALLELEID_clinvar_20171029_hg19=,56135;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0058;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.66;CAF_dbsnp_common_v150_hg19_refseq=,0.9605|0.03954;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1837342|OMIM:608807|Orphanet:ORPHA140922|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1858763|OMIM:604145|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy|_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179497025A>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:102527;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.38673T>C|_NM_001267550.2:c.43596T>C|_NM_003319.4:c.16401T>C|_NM_133378.4:c.35892T>C|_NM_133432.3:c.16776T>C|_NM_133437.4:c.16977T>C;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.43596T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1448;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0080;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,67;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179497025;RS_dbsnp_common_v150_hg19_refseq=,16866423;Read_count=,69;Read_coverage=,140;Read_direction_test_probability=,0.9968003685453655;Read_position_test_probability=,0.9796002383228354;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,73;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0399;SF=41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.994952|0.00504842;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050328000305150537000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.0102041;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.097561;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.111765;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.0284091;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.186047;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.156977;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.00561798;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.93;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon64:c.T16401C:p.N5467N,TTN:NM_133432:exon65:c.T16776C:p.N5592N,TTN:NM_133437:exon65:c.T16977C:p.N5659N,TTN:NM_133378:exon185:c.T35892C:p.N11964N,TTN:NM_001256850:exon186:c.T38673C:p.N12891N,TTN:NM_001267550:exon236:c.T43596C:p.N14532N;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0028;esp6500siv2_ea=0.0036;esp6500siv2_all=0.0028;esp6500siv2_ea=0.0036;1000g2015aug_all=0.0395367;avsnp147=rs16866423;Kaviar_AF=0.0166169;Kaviar_AC=2569;Kaviar_AN=154602;ExAC_ALL=0.0221;ExAC_AFR=0.0010;ExAC_AMR=0.0035;ExAC_EAS=0.1394;ExAC_FIN=0.0260;ExAC_NFE=0.0062;ExAC_OTH=0.0237;ExAC_SAS=0.0454;CLNALLELEID=56135;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0608;dpsi_zscore=0.345;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0185;gnomAD_exome_AFR=0.0010;gnomAD_exome_AMR=0.0019;gnomAD_exome_ASJ=0.0195;gnomAD_exome_EAS=0.1256;gnomAD_exome_FIN=0.0228;gnomAD_exome_NFE=0.0034;gnomAD_exome_OTH=0.0150;gnomAD_exome_SAS=0.0378;gnomAD_genome_ALL=0.0124;gnomAD_genome_AFR=0.0017;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0.0132;gnomAD_genome_EAS=0.1242;gnomAD_genome_FIN=0.0261;gnomAD_genome_NFE=0.0043;gnomAD_genome_OTH=0.0133;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:127:0,67 2 179497133 46968;rs56034831 C T 173.09 . #_unique_end_positions=,16;#_unique_start_positions=,15;AC=3;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0215;AF_EXAC_clinvar_20171029_hg19=,0.02243;AF_TGP_clinvar_20171029_hg19=,0.0070;ALLELEID_clinvar_20171029_hg19=,56133;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0144;AN=3;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.1;CAF_dbsnp_common_v150_hg19_refseq=,0.993|0.006989;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1837342|OMIM:608807|Orphanet:ORPHA140922|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1858763|OMIM:604145|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy|_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179497133C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:53963;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.38565G>A|_NM_001267550.2:c.43488G>A|_NM_003319.4:c.16293G>A|_NM_133378.4:c.35784G>A|_NM_133432.3:c.16668G>A|_NM_133437.4:c.16869G>A;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.43488G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0249;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,31;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,119.26751092002058;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179497133;RS_dbsnp_common_v150_hg19_refseq=,56034831;Read_count=,20;Read_coverage=,47;Read_direction_test_probability=,0.9096220015065872;Read_position_test_probability=,0.6916545869074131;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,16;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=5,31,32;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.985061|0.0149392;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05022800030504043e000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.21;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon64:c.G16293A:p.R5431R,TTN:NM_133432:exon65:c.G16668A:p.R5556R,TTN:NM_133437:exon65:c.G16869A:p.R5623R,TTN:NM_133378:exon185:c.G35784A:p.R11928R,TTN:NM_001256850:exon186:c.G38565A:p.R12855R,TTN:NM_001267550:exon236:c.G43488A:p.R14496R;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0215;esp6500siv2_ea=0.0290;esp6500siv2_all=0.0215;esp6500siv2_ea=0.0290;1000g2015aug_all=0.00698882;avsnp147=rs56034831;Kaviar_AF=0.0189713;Kaviar_AC=2933;Kaviar_AN=154602;ExAC_ALL=0.0224;ExAC_AFR=0.0053;ExAC_AMR=0.0074;ExAC_EAS=0;ExAC_FIN=0.0370;ExAC_NFE=0.0346;ExAC_OTH=0.0234;ExAC_SAS=7.776e-05;CLNALLELEID=56133;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0528;dpsi_zscore=0.310;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0200;gnomAD_exome_AFR=0.0043;gnomAD_exome_AMR=0.0066;gnomAD_exome_ASJ=0.0272;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0353;gnomAD_exome_NFE=0.0300;gnomAD_exome_OTH=0.0233;gnomAD_exome_SAS=0.0003;gnomAD_genome_ALL=0.0277;gnomAD_genome_AFR=0.0061;gnomAD_genome_AMR=0.0096;gnomAD_genome_ASJ=0.0331;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0301;gnomAD_genome_NFE=0.0430;gnomAD_genome_OTH=0.0357;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 . . . . . 1:44:0,18 . . . . . . . . . . . . . . . . . . . . . . . . . 1:60:0,31 1:81:0,42 . . . . . . . . . 2 179497981 46964 A G 200.00 . #_unique_end_positions=,41;#_unique_start_positions=,32;AC=1;AF_EXAC_clinvar_20171029_hg19=,0.00001;ALLELEID_clinvar_20171029_hg19=,56129;AN=1;Amino_acid_change=,NP_597681.4:p.Ile5467Thr|_NP_003310.4:p.Ile5275Thr|_NP_001243779.1:p.Ile12699Thr|_NP_597676.3:p.Ile5400Thr|_NP_596869.4:p.Ile11772Thr|_NP_001254479.2:p.Ile14340Thr;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Ile14340Thr;BaseQRankSum=,0.43;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1837342|OMIM:608807|Orphanet:ORPHA140922|MedGen:C1858763|OMIM:604145|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Limb-girdle_muscular_dystrophy|_type_2J|Dilated_cardiomyopathy_1G|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179497981A>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;Coding_region_change=,NM_001256850.1:c.38096T>C|_NM_001267550.2:c.43019T>C|_NM_003319.4:c.15824T>C|_NM_133378.4:c.35315T>C|_NM_133432.3:c.16199T>C|_NM_133437.4:c.16400T>C;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.43019T>C;Exact_match=,clinvar_20171029_hg19;Forward_read_coverage=,77;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;Read_count=,66;Read_coverage=,142;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9663998563095438;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,65;SF=9;conservation_score=,1.0;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon61:c.T15824C:p.I5275T,TTN:NM_133432:exon62:c.T16199C:p.I5400T,TTN:NM_133437:exon62:c.T16400C:p.I5467T,TTN:NM_133378:exon182:c.T35315C:p.I11772T,TTN:NM_001256850:exon183:c.T38096C:p.I12699T,TTN:NM_001267550:exon233:c.T43019C:p.I14340T;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs397517571;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;ExAC_ALL=8.313e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0;ExAC_OTH=0.0011;ExAC_SAS=0;CLNALLELEID=56129;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.044;SIFT_pred=D;Polyphen2_HDIV_score=0.799;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.115;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.999;MutationTaster_pred=D;MutationAssessor_score=-0.125;MutationAssessor_pred=N;FATHMM_score=1.25;FATHMM_pred=T;PROVEAN_score=-3.1;PROVEAN_pred=D;VEST3_score=0.598;CADD_raw=1.395;CADD_phred=12.76;DANN_score=0.656;fathmm-MKL_coding_score=0.990;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.052;MetaSVM_pred=T;MetaLR_score=0.045;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=6.17;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.199;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=16.822;GDI_full_10282015=.;dpsi_max_tissue=-0.0501;dpsi_zscore=-0.266;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=1.223e-05;gnomAD_exome_AFR=6.548e-05;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=9.009e-06;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=0;gnomAD_genome_ALL=3.235e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.664e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . . 1:130:0,61 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2 179498042 46963;rs6723526 T C 200.00 . #_unique_end_positions=,47;#_unique_start_positions=,31;AC=5;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0061;AF_ESP_clinvar_20171029_hg19=,0.0813;AF_EXAC_clinvar_20171029_hg19=,0.08303;AF_TGP_clinvar_20171029_hg19=,0.0509;ALLELEID_clinvar_20171029_hg19=,56128;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0620;AN=5;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_003310.4:p.Lys5255Glu|_NP_001243779.1:p.Lys12679Glu|_NP_597681.4:p.Lys5447Glu|_NP_597676.3:p.Lys5380Glu|_NP_596869.4:p.Lys11752Glu|_NP_001254479.2:p.Lys14320Glu;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Lys14320Glu;BaseQRankSum=,-0.62;CAF_dbsnp_common_v150_hg19_refseq=,0.9491|0.05092;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179498042T>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:26864;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.38035A>G|_NM_001267550.2:c.42958A>G|_NM_003319.4:c.15763A>G|_NM_133378.4:c.35254A>G|_NM_133432.3:c.16138A>G|_NM_133437.4:c.16339A>G;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.42958A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0050;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1004;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,89;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179498042;RS_dbsnp_common_v150_hg19_refseq=,6723526;Read_count=,75;Read_coverage=,154;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.6975749800844453;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,65;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1002;SF=8,15,18,31,39;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.9433|0.0567003;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050328000a05150537000101;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.0204082;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0929204;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.0121951;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.0235294;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.155172;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0116279;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.08;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.0141844;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.125;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon61:c.A15763G:p.K5255E,TTN:NM_133432:exon62:c.A16138G:p.K5380E,TTN:NM_133437:exon62:c.A16339G:p.K5447E,TTN:NM_133378:exon182:c.A35254G:p.K11752E,TTN:NM_001256850:exon183:c.A38035G:p.K12679E,TTN:NM_001267550:exon233:c.A42958G:p.K14320E;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0813;esp6500siv2_ea=0.1098;esp6500siv2_all=0.0813;esp6500siv2_ea=0.1098;1000g2015aug_all=0.0509185;avsnp147=rs6723526;Kaviar_AF=0.082748;Kaviar_AC=12793;Kaviar_AN=154602;ExAC_ALL=0.0830;ExAC_AFR=0.0172;ExAC_AMR=0.0407;ExAC_EAS=0.0070;ExAC_FIN=0.0955;ExAC_NFE=0.1043;ExAC_OTH=0.0835;ExAC_SAS=0.1003;CLNALLELEID=56128;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.089;SIFT_pred=T;Polyphen2_HDIV_score=0.997;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.985;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=1.135;MutationAssessor_pred=L;FATHMM_score=0.03;FATHMM_pred=T;PROVEAN_score=-2.87;PROVEAN_pred=D;VEST3_score=0.435;CADD_raw=2.465;CADD_phred=19.24;DANN_score=0.939;fathmm-MKL_coding_score=0.981;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.945;MetaSVM_pred=T;MetaLR_score=0.012;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=6.17;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=1.061;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=16.822;GDI_full_10282015=.;dpsi_max_tissue=0.1000;dpsi_zscore=0.483;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0826;gnomAD_exome_AFR=0.0165;gnomAD_exome_AMR=0.0422;gnomAD_exome_ASJ=0.0700;gnomAD_exome_EAS=0.0062;gnomAD_exome_FIN=0.1015;gnomAD_exome_NFE=0.1075;gnomAD_exome_OTH=0.0862;gnomAD_exome_SAS=0.1023;gnomAD_genome_ALL=0.0750;gnomAD_genome_AFR=0.0174;gnomAD_genome_AMR=0.0358;gnomAD_genome_ASJ=0.0596;gnomAD_genome_EAS=0.0051;gnomAD_genome_FIN=0.1013;gnomAD_genome_NFE=0.1110;gnomAD_genome_OTH=0.0947;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 . . . . . . . . 1:142:0,68 . . . . . . 1:156:0,78 . . 1:118:0,63 . . . . . . . . . . . . 1:97:0,46 . . . . . . . 1:118:0,56 . . 2 179498303 46959;rs16866425 T C 200.00 . #_unique_end_positions=,47;#_unique_start_positions=,46;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1566;AF_ESP_clinvar_20171029_hg19=,0.0590;AF_EXAC_clinvar_20171029_hg19=,0.07193;AF_TGP_clinvar_20171029_hg19=,0.1094;ALLELEID_clinvar_20171029_hg19=,56124;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1556;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.57;CAF_dbsnp_common_v150_hg19_refseq=,0.8906|.|0.1094;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179498303T>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:87945;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.37860A>G|_NM_001267550.2:c.42783A>G|_NM_003319.4:c.15588A>G|_NM_133378.4:c.35079A>G|_NM_133432.3:c.15963A>G|_NM_133437.4:c.16164A>G;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.42783A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0228;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0328;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,71;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179498303;RS_dbsnp_common_v150_hg19_refseq=,16866425;Read_count=,74;Read_coverage=,139;Read_direction_test_probability=,0.9564488606309575;Read_position_test_probability=,0.7361477613350188;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,68;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1810;SF=17;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.917783|.|0.0822172;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050328000305150537000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.025;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.166667;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon60:c.A15588G:p.K5196K,TTN:NM_133432:exon61:c.A15963G:p.K5321K,TTN:NM_133437:exon61:c.A16164G:p.K5388K,TTN:NM_133378:exon181:c.A35079G:p.K11693K,TTN:NM_001256850:exon182:c.A37860G:p.K12620K,TTN:NM_001267550:exon232:c.A42783G:p.K14261K;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0590;esp6500siv2_ea=0.0211;esp6500siv2_all=0.0590;esp6500siv2_ea=0.0211;1000g2015aug_all=0.109425;avsnp147=rs16866425;Kaviar_AF=0.0678969;Kaviar_AC=10497;Kaviar_AN=154602;ExAC_ALL=0.0719;ExAC_AFR=0.1387;ExAC_AMR=0.1969;ExAC_EAS=0.0258;ExAC_FIN=0.0588;ExAC_NFE=0.0247;ExAC_OTH=0.0684;ExAC_SAS=0.1643;CLNALLELEID=56124;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0198;dpsi_zscore=0.134;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0761;gnomAD_exome_AFR=0.1354;gnomAD_exome_AMR=0.1948;gnomAD_exome_ASJ=0.0265;gnomAD_exome_EAS=0.0271;gnomAD_exome_FIN=0.0574;gnomAD_exome_NFE=0.0241;gnomAD_exome_OTH=0.0608;gnomAD_exome_SAS=0.1635;gnomAD_genome_ALL=0.0633;gnomAD_genome_AFR=0.1349;gnomAD_genome_AMR=0.1695;gnomAD_genome_ASJ=0.0265;gnomAD_genome_EAS=0.0287;gnomAD_genome_FIN=0.0535;gnomAD_genome_NFE=0.0229;gnomAD_genome_OTH=0.0561;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . 1:128:0,67 . . . . . . . . . . . . . . . . . . . . . . . . 2 179514941 46932;rs139512154 TTTTCCTCTTCAGGAGCAA T 200.00 . #_unique_end_positions=,13;#_unique_start_positions=,12;AC=2;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0840;ALLELEID_clinvar_20171029_hg19=,56097;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0173;AN=2;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001243779.1:p.Ile11743_Glu11748del|_NP_596869.4:p.Ile10816_Glu10821del|_NP_001254479.2:p.Ile13250_Glu13255del;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Ile13250_Glu13255del;BaseQRankSum=,0.55;CAF_dbsnp_common_v150_hg19_refseq=,0.9669|0.03315|.;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1837342|OMIM:608807|Orphanet:ORPHA140922|MedGen:C1858763|OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNDN_clinvar_20171029_hg19=,Limb-girdle_muscular_dystrophy|_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179514942_179514959del18;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0000159;CLNVC_clinvar_20171029_hg19=,Deletion;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.35228_35245del|_NM_001267550.2:c.39749_39766del|_NM_003319.4:c.13283-7915_13283-7898del|_NM_133378.4:c.32447_32464del|_NM_133432.3:c.13658-7915_13658-7898del|_NM_133437.4:c.13859-7915_13859-7898del;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.39749_39766del;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0119;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0139;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,32;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,complex;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001627|intron_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;R5_dbsnp_common_v150_hg19_refseq=,R5;RSPOS_dbsnp_common_v150_hg19_refseq=,179514942;RS_dbsnp_common_v150_hg19_refseq=,139512154;Read_count=,12;Read_coverage=,50;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.935571367335911;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,19;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0174;SF=12,37;SSR_dbsnp_common_v150_hg19_refseq=,0;Start_by_3'_rule=,179514941;VC_dbsnp_common_v150_hg19_refseq=,DIV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x0500280a000515003e000200;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.9281111111111113;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonframeshift_deletion;AAChange.refGene=TTN:NM_133378:exon164:c.32447_32464del:p.10816_10822del,TTN:NM_001256850:exon165:c.35228_35245del:p.11743_11749del,TTN:NM_001267550:exon210:c.39749_39766del:p.13250_13256del;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0130;esp6500siv2_ea=0.0049;esp6500siv2_all=0.0130;esp6500siv2_ea=0.0049;1000g2015aug_all=0.033147;avsnp147=rs139512154;Kaviar_AF=0.000401;Kaviar_AC=62;Kaviar_AN=154602;ExAC_ALL=0.0175;ExAC_AFR=0.0650;ExAC_AMR=0.0105;ExAC_EAS=0.0068;ExAC_FIN=0.0165;ExAC_NFE=0.0103;ExAC_OTH=0.0094;ExAC_SAS=0.0182;CLNALLELEID=56097;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0104;gnomAD_exome_AFR=0.0457;gnomAD_exome_AMR=0.0074;gnomAD_exome_ASJ=0.0080;gnomAD_exome_EAS=0.0045;gnomAD_exome_FIN=0.0130;gnomAD_exome_NFE=0.0065;gnomAD_exome_OTH=0.0090;gnomAD_exome_SAS=0.0135;gnomAD_genome_ALL=0.0262;gnomAD_genome_AFR=0.0696;gnomAD_genome_AMR=0.0155;gnomAD_genome_ASJ=0.0132;gnomAD_genome_EAS=0.0069;gnomAD_genome_FIN=0.0132;gnomAD_genome_NFE=0.0078;gnomAD_genome_OTH=0.0132;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 . . . . . . . . . . . . 1:48:0,12 . . . . . . . . . . . . . . . . . . . . . . . . 1:62:0,22 . . . . 2 179515483 46929;rs72650066 G C 200.00 . #_unique_end_positions=,19;#_unique_start_positions=,17;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0008;AF_ESP_clinvar_20171029_hg19=,0.0027;AF_EXAC_clinvar_20171029_hg19=,0.03058;AF_TGP_clinvar_20171029_hg19=,0.0393;ALLELEID_clinvar_20171029_hg19=,56094;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0058;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_596869.4:p.Pro10801Arg|_NP_001243779.1:p.Pro11728Arg|_NP_001254479.2:p.Pro13235Arg;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Pro13235Arg;BaseQRankSum=,-0.24;CAF_dbsnp_common_v150_hg19_refseq=,0.9607|.|0.03934|.;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1837342|OMIM:608807|Orphanet:ORPHA140922|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1858763|OMIM:604145|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy|_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179515483G>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:102536;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.35183C>G|_NM_001267550.2:c.39704C>G|_NM_003319.4:c.13283-8439C>G|_NM_133378.4:c.32402C>G|_NM_133432.3:c.13658-8439C>G|_NM_133437.4:c.13859-8439C>G;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.39704C>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1438;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0080;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,33;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,C/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant|SO:0001627|intron_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;R5_dbsnp_common_v150_hg19_refseq=,R5;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179515483;RS_dbsnp_common_v150_hg19_refseq=,72650066;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,31;Read_coverage=,57;Read_direction_test_probability=,0.9100770972598309;Read_position_test_probability=,0.7606881361497322;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,24;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0399;SF=41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.994849|3.4343e-005|0.00511711|.;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x0501280a0a05150436000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.483;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon163:c.C32402G:p.P10801R,TTN:NM_001256850:exon164:c.C35183G:p.P11728R,TTN:NM_001267550:exon209:c.C39704G:p.P13235R;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0027;esp6500siv2_ea=0.0034;esp6500siv2_all=0.0027;esp6500siv2_ea=0.0034;1000g2015aug_all=0.0393371;avsnp147=rs72650066;Kaviar_AF=0.0160865;Kaviar_AC=2487;Kaviar_AN=154602;ExAC_ALL=0.0306;ExAC_AFR=0.0011;ExAC_AMR=0.0060;ExAC_EAS=0.1733;ExAC_FIN=0.0345;ExAC_NFE=0.0093;ExAC_OTH=0.0292;ExAC_SAS=0.0519;CLNALLELEID=56094;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.22;SIFT_pred=T;Polyphen2_HDIV_score=0.01;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.01;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=-0.03;FATHMM_pred=T;PROVEAN_score=-2.03;PROVEAN_pred=N;VEST3_score=0.283;CADD_raw=0.743;CADD_phred=9.108;DANN_score=0.904;fathmm-MKL_coding_score=0.346;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.086;MetaSVM_pred=T;MetaLR_score=0.001;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=3.08;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.071;phastCons7way_vertebrate=0.659;phastCons20way_mammalian=0.093;SiPhy_29way_logOdds=11.644;GDI_full_10282015=.;dpsi_max_tissue=5.6803;dpsi_zscore=2.683;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0184;gnomAD_exome_AFR=0.0009;gnomAD_exome_AMR=0.0020;gnomAD_exome_ASJ=0.0196;gnomAD_exome_EAS=0.1223;gnomAD_exome_FIN=0.0227;gnomAD_exome_NFE=0.0034;gnomAD_exome_OTH=0.0156;gnomAD_exome_SAS=0.0379;gnomAD_genome_ALL=0.0123;gnomAD_genome_AFR=0.0017;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0.0132;gnomAD_genome_EAS=0.1211;gnomAD_genome_FIN=0.0258;gnomAD_genome_NFE=0.0043;gnomAD_genome_OTH=0.0132;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:47:0,24 2 179516831 . G C 200.00 . #_unique_end_positions=,48;#_unique_start_positions=,39;AC=1;AN=1;Amino_acid_change=,NP_001254479.2:p.Pro13096Arg|_NP_001243779.1:p.Pro11589Arg|_NP_596869.4:p.Pro10662Arg;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Pro13096Arg;BaseQRankSum=,0.09;Coding_region_change=,NM_001256850.1:c.34766C>G|_NM_001267550.2:c.39287C>G|_NM_003319.4:c.13283-9787C>G|_NM_133378.4:c.31985C>G|_NM_133432.3:c.13658-9787C>G|_NM_133437.4:c.13859-9787C>G;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.39287C>G;Forward_read_coverage=,81;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,C/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8985|rna8986|rna8987;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;Read_count=,66;Read_coverage=,151;Read_direction_test_probability=,0.926075849417173;Read_position_test_probability=,0.8616431587658964;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,70;SF=7;conservation_score=,1.0;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon158:c.C31985G:p.P10662R,TTN:NM_001256850:exon159:c.C34766G:p.P11589R,TTN:NM_001267550:exon204:c.C39287G:p.P13096R;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs777572812;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=8.3e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.502e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.007;SIFT_pred=D;Polyphen2_HDIV_score=0.531;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.216;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.505;MutationAssessor_pred=M;FATHMM_score=-0.19;FATHMM_pred=T;PROVEAN_score=-3.43;PROVEAN_pred=D;VEST3_score=0.4;CADD_raw=2.161;CADD_phred=17.26;DANN_score=0.877;fathmm-MKL_coding_score=0.583;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.483;MetaSVM_pred=T;MetaLR_score=0.259;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.0;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.977;phastCons20way_mammalian=0.995;SiPhy_29way_logOdds=11.737;GDI_full_10282015=.;dpsi_max_tissue=5.4534;dpsi_zscore=2.651;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=8.134e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=1.794e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . 1:145:0,63 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2 179517019 46922;rs12474306 A T 200.00 . #_unique_end_positions=,67;#_unique_start_positions=,59;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0083;AF_EXAC_clinvar_20171029_hg19=,0.00823;AF_TGP_clinvar_20171029_hg19=,0.0028;ALLELEID_clinvar_20171029_hg19=,56087;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0058;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.57;CAF_dbsnp_common_v150_hg19_refseq=,0.9972|0.002796;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1837342|OMIM:608807|Orphanet:ORPHA140922|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1858763|OMIM:604145|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy|_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179517019A>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_conflicting_interpretations;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:63832;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.34662T>A|_NM_001267550.2:c.39183T>A|_NM_003319.4:c.13283-9975T>A|_NM_133378.4:c.31881T>A|_NM_133432.3:c.13658-9975T>A|_NM_133437.4:c.13859-9975T>A;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.39183T>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0099;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,98;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,A/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001627|intron_variant|SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179517019;RS_dbsnp_common_v150_hg19_refseq=,12474306;Read_count=,123;Read_coverage=,227;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.99757329705715;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,129;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=33;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.994127|0.00587266;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050028080305040136000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133378:exon157:c.T31881A:p.P10627P,TTN:NM_001256850:exon158:c.T34662A:p.P11554P,TTN:NM_001267550:exon203:c.T39183A:p.P13061P;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0083;esp6500siv2_ea=0.0110;esp6500siv2_all=0.0083;esp6500siv2_ea=0.0110;1000g2015aug_all=0.00279553;avsnp147=rs12474306;Kaviar_AF=0.0081694;Kaviar_AC=1263;Kaviar_AN=154602;ExAC_ALL=0.0082;ExAC_AFR=0.0015;ExAC_AMR=0.0087;ExAC_EAS=0;ExAC_FIN=0.0041;ExAC_NFE=0.0119;ExAC_OTH=0.0022;ExAC_SAS=0.0034;CLNALLELEID=56087;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=5.1516;dpsi_zscore=2.612;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0077;gnomAD_exome_AFR=0.0017;gnomAD_exome_AMR=0.0087;gnomAD_exome_ASJ=0.0017;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0048;gnomAD_exome_NFE=0.0121;gnomAD_exome_OTH=0.0046;gnomAD_exome_SAS=0.0029;gnomAD_genome_ALL=0.0068;gnomAD_genome_AFR=0.0026;gnomAD_genome_AMR=0.0036;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0052;gnomAD_genome_NFE=0.0107;gnomAD_genome_OTH=0.0071;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:203:0,110 . . . . . . . . 2 179523029 . T A 200.00 . #_unique_end_positions=,20;#_unique_start_positions=,16;AC=1;AN=1;Amino_acid_change=,NP_001254479.2:p.Ile12561Phe;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Ile12561Phe;BaseQRankSum=,-0.52;Coding_region_change=,NM_001256850.1:c.34522+703A>T|_NM_001267550.2:c.37681A>T|_NM_003319.4:c.13283-15985A>T|_NM_133378.4:c.31741+703A>T|_NM_133432.3:c.13658-15985A>T|_NM_133437.4:c.13859-15985A>T;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.37681A>T;Forward_read_coverage=,5;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,A/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8987;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;Read_count=,29;Read_coverage=,65;Read_direction_test_probability=,0.9993838367989174;Read_position_test_probability=,0.9384341014508727;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001267550.2;Reverse_read_coverage=,60;SF=13;conservation_score=,0.112;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_IC;transcript_id=,NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_001267550:exon185:c.A37681T:p.I12561F;cytoBand=2q31.2;genomicSuperDups=Score\x3d0.998123\x3bName\x3dchr2:179523296;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=-0.1;FATHMM_pred=T;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=0.071;CADD_raw=0.074;CADD_phred=3.330;DANN_score=0.687;fathmm-MKL_coding_score=0.011;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.009;MetaSVM_pred=T;MetaLR_score=0.054;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=2.23;phyloP7way_vertebrate=-0.027;phyloP20way_mammalian=-0.065;phastCons7way_vertebrate=0.001;phastCons20way_mammalian=0.001;SiPhy_29way_logOdds=6.421;GDI_full_10282015=.;dpsi_max_tissue=-3.3230;dpsi_zscore=-2.225;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=2.089e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0001;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . . . . . . 1:65:0,29 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2 179527075 404763 T C 5.55 . #_unique_end_positions=,9;#_unique_start_positions=,10;AC=1;ALLELEID_clinvar_20171029_hg19=,392018;AN=1;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.11;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1837342|OMIM:608807|Orphanet:ORPHA140922|MedGen:C1858763|OMIM:604145;CLNDN_clinvar_20171029_hg19=,Limb-girdle_muscular_dystrophy|_type_2J|Dilated_cardiomyopathy_1G;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179527075T>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_single_submitter;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;Coding_region_change=,NM_001256850.1:c.34354+618A>G|_NM_001267550.2:c.37029A>G|_NM_003319.4:c.13283-20031A>G|_NM_133378.4:c.31573+618A>G|_NM_133432.3:c.13658-20031A>G|_NM_133437.4:c.13859-20031A>G;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.37029A>G;Exact_match=,clinvar_20171029_hg19;Forward_read_coverage=,49;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8987;MC_clinvar_20171029_hg19=,SO:0001627|intron_variant|SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,5.546997507160896;Read_count=,17;Read_coverage=,78;Read_direction_test_probability=,0.9386833542017041;Read_position_test_probability=,0.4649047550254807;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001267550.2;Reverse_read_coverage=,29;SF=32;conservation_score=,0.0;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_IC;transcript_id=,NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_001267550:exon177:c.A37029G:p.P12343P;cytoBand=2q31.2;genomicSuperDups=Score\x3d0.998123\x3bName\x3dchr2:179519036;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs200163049;Kaviar_AF=0.000207;Kaviar_AC=32;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=392018;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.2846;dpsi_zscore=1.678;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:63:0,13 . . . . . . . . . 2 179527095 220962;rs201474544 G A 200.00 . #_unique_end_positions=,43;#_unique_start_positions=,36;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_EXAC_clinvar_20171029_hg19=,0.02019;AF_TGP_clinvar_20171029_hg19=,0.0092;ALLELEID_clinvar_20171029_hg19=,221129;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0086;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001254479.2:p.Pro12337Ser;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Pro12337Ser;BaseQRankSum=,-0.38;CAF_dbsnp_common_v150_hg19_refseq=,0.9908|0.009185;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1837342|OMIM:608807|Orphanet:ORPHA140922|MedGen:C1858763|OMIM:604145;CLNDN_clinvar_20171029_hg19=,Limb-girdle_muscular_dystrophy|_type_2J|Dilated_cardiomyopathy_1G;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179527095G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_single_submitter;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.34354+598C>T|_NM_001267550.2:c.37009C>T|_NM_003319.4:c.13283-20051C>T|_NM_133378.4:c.31573+598C>T|_NM_133432.3:c.13658-20051C>T|_NM_133437.4:c.13859-20051C>T;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.37009C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0189;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,123;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant|SO:0001627|intron_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179527095;RS_dbsnp_common_v150_hg19_refseq=,201474544;Read_count=,74;Read_coverage=,180;Read_direction_test_probability=,0.9165741038867967;Read_position_test_probability=,0.529819243965181;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001267550.2;Reverse_read_coverage=,57;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0215;SF=2;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.990554|0.00944563;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050000080a05040026000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.012;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_IC;transcript_id=,NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_001267550:exon177:c.C37009T:p.P12337S;cytoBand=2q31.2;genomicSuperDups=Score\x3d0.998123\x3bName\x3dchr2:179519036;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.0091853;avsnp147=rs201474544;Kaviar_AF=0.0137967;Kaviar_AC=2133;Kaviar_AN=154602;ExAC_ALL=0.0202;ExAC_AFR=0.0033;ExAC_AMR=0.0028;ExAC_EAS=0;ExAC_FIN=0.0126;ExAC_NFE=0.0267;ExAC_OTH=0.0109;ExAC_SAS=0.0265;CLNALLELEID=221129;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=-0.31;FATHMM_pred=T;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=0.048;CADD_raw=0.568;CADD_phred=7.931;DANN_score=0.705;fathmm-MKL_coding_score=0.023;fathmm-MKL_coding_pred=N;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=3.31;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.937;phastCons7way_vertebrate=0.004;phastCons20way_mammalian=0.001;SiPhy_29way_logOdds=4.844;GDI_full_10282015=.;dpsi_max_tissue=1.8951;dpsi_zscore=1.934;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0179;gnomAD_exome_AFR=0.0030;gnomAD_exome_AMR=0.0026;gnomAD_exome_ASJ=0.0112;gnomAD_exome_EAS=0.0003;gnomAD_exome_FIN=0.0106;gnomAD_exome_NFE=0.0262;gnomAD_exome_OTH=0.0143;gnomAD_exome_SAS=0.0255;gnomAD_genome_ALL=0.0120;gnomAD_genome_AFR=0.0041;gnomAD_genome_AMR=0.0062;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0105;gnomAD_genome_NFE=0.0182;gnomAD_genome_OTH=0.0072;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-10 GT:DP:CLCAD2 . . 1:166:0,67 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2 179528068 192214;rs142156368;rs72650053 C A 200.00 . #_unique_end_positions=,61;#_unique_start_positions=,42;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0272;ALLELEID_clinvar_20171029_hg19=,189642;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0144;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001254479.2:p.Val12209Leu;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Val12209Leu;BaseQRankSum=,-0.83;CAF_dbsnp_common_v150_hg19_refseq=,0.9425|0.05751;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1837342|OMIM:608807|Orphanet:ORPHA140922|MedGen:C1858763|OMIM:604145|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Limb-girdle_muscular_dystrophy|_type_2J|Dilated_cardiomyopathy_1G|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179528068C>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.34265-286G>T|_NM_001267550.2:c.36625G>T|_NM_003319.4:c.13283-21024G>T|_NM_133378.4:c.31484-286G>T|_NM_133432.3:c.13658-21024G>T|_NM_133437.4:c.13859-21024G>T;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.36625G>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1716;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0089;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,120;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,A/C;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant|SO:0001627|intron_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179528068;RS_dbsnp_common_v150_hg19_refseq=,72650053;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,98;Read_coverage=,206;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9713169899401118;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001267550.2;Reverse_read_coverage=,86;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0613;SF=41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.986297|0.0137029;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128080a05050036000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.542;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_IC;transcript_id=,NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_001267550:exon173:c.G36625T:p.V12209L;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0100;esp6500siv2_ea=0.0045;esp6500siv2_all=0.0100;esp6500siv2_ea=0.0045;1000g2015aug_all=0.057508;avsnp147=rs142156368;Kaviar_AF=0.0234538;Kaviar_AC=3626;Kaviar_AN=154602;ExAC_ALL=0.0269;ExAC_AFR=0.0221;ExAC_AMR=0.0065;ExAC_EAS=0.2311;ExAC_FIN=0.0276;ExAC_NFE=0.0062;ExAC_OTH=0.0246;ExAC_SAS=0.0585;CLNALLELEID=189642;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=0.779;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.425;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=-0.54;FATHMM_pred=T;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=0.048;CADD_raw=1.906;CADD_phred=15.63;DANN_score=0.836;fathmm-MKL_coding_score=0.049;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.071;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=2.39;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.005;phastCons7way_vertebrate=0.066;phastCons20way_mammalian=0.002;SiPhy_29way_logOdds=7.463;GDI_full_10282015=.;dpsi_max_tissue=6.0920;dpsi_zscore=2.734;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0234;gnomAD_exome_AFR=0.0186;gnomAD_exome_AMR=0.0045;gnomAD_exome_ASJ=0.0235;gnomAD_exome_EAS=0.1632;gnomAD_exome_FIN=0.0269;gnomAD_exome_NFE=0.0042;gnomAD_exome_OTH=0.0195;gnomAD_exome_SAS=0.0487;gnomAD_genome_ALL=0.0168;gnomAD_genome_AFR=0.0173;gnomAD_genome_AMR=0.0038;gnomAD_genome_ASJ=0.0135;gnomAD_genome_EAS=0.1423;gnomAD_genome_FIN=0.0260;gnomAD_genome_NFE=0.0047;gnomAD_genome_OTH=0.0139;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-10 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:193:0,89 2 179528068 192214;rs142156368;rs72650053 C A 200.00 . #_unique_end_positions=,61;#_unique_start_positions=,42;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0272;ALLELEID_clinvar_20171029_hg19=,189642;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0144;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001254479.2:p.Val12209Leu;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Val12209Leu;BaseQRankSum=,-0.83;CAF_dbsnp_common_v150_hg19_refseq=,0.9425|0.05751;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1837342|OMIM:608807|Orphanet:ORPHA140922|MedGen:C1858763|OMIM:604145|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Limb-girdle_muscular_dystrophy|_type_2J|Dilated_cardiomyopathy_1G|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179528068C>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.34265-286G>T|_NM_001267550.2:c.36625G>T|_NM_003319.4:c.13283-21024G>T|_NM_133378.4:c.31484-286G>T|_NM_133432.3:c.13658-21024G>T|_NM_133437.4:c.13859-21024G>T;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.36625G>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1716;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0089;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,120;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,A/C;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant|SO:0001627|intron_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179528068;RS_dbsnp_common_v150_hg19_refseq=,72650053;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,98;Read_coverage=,206;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9713169899401118;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001267550.2;Reverse_read_coverage=,86;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0613;SF=41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.986297|0.0137029;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128080a05050036000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.542;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_IC;transcript_id=,NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_001267550:exon173:c.G36625T:p.V12209L;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0100;esp6500siv2_ea=0.0045;esp6500siv2_all=0.0100;esp6500siv2_ea=0.0045;1000g2015aug_all=0.057508;avsnp147=rs142156368;Kaviar_AF=0.0234538;Kaviar_AC=3626;Kaviar_AN=154602;ExAC_ALL=0.0269;ExAC_AFR=0.0221;ExAC_AMR=0.0065;ExAC_EAS=0.2311;ExAC_FIN=0.0276;ExAC_NFE=0.0062;ExAC_OTH=0.0246;ExAC_SAS=0.0585;CLNALLELEID=189642;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=0.779;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.425;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=-0.54;FATHMM_pred=T;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=0.048;CADD_raw=1.906;CADD_phred=15.63;DANN_score=0.836;fathmm-MKL_coding_score=0.049;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.071;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=2.39;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.005;phastCons7way_vertebrate=0.066;phastCons20way_mammalian=0.002;SiPhy_29way_logOdds=7.463;GDI_full_10282015=.;dpsi_max_tissue=6.0920;dpsi_zscore=2.734;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0234;gnomAD_exome_AFR=0.0186;gnomAD_exome_AMR=0.0045;gnomAD_exome_ASJ=0.0235;gnomAD_exome_EAS=0.1632;gnomAD_exome_FIN=0.0269;gnomAD_exome_NFE=0.0042;gnomAD_exome_OTH=0.0195;gnomAD_exome_SAS=0.0487;gnomAD_genome_ALL=0.0168;gnomAD_genome_AFR=0.0173;gnomAD_genome_AMR=0.0038;gnomAD_genome_ASJ=0.0135;gnomAD_genome_EAS=0.1423;gnomAD_genome_FIN=0.0260;gnomAD_genome_NFE=0.0047;gnomAD_genome_OTH=0.0139;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-10 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:193:0,89 2 179528378 192215;rs2163008 C T 200.00 . #_unique_end_positions=,50;#_unique_start_positions=,35;AC=3;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5030;AF_ESP_clinvar_20171029_hg19=,0.1835;AF_EXAC_clinvar_20171029_hg19=,0.14759;AF_TGP_clinvar_20171029_hg19=,0.2592;ALLELEID_clinvar_20171029_hg19=,189644;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2277;AN=3;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001254479.2:p.Glu12170Lys;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Glu12170Lys;BaseQRankSum=,0.36;CAF_dbsnp_common_v150_hg19_refseq=,0.7408|0.2592;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179528378C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_single_submitter;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.34265-596G>A|_NM_001267550.2:c.36508G>A|_NM_003319.4:c.13283-21334G>A|_NM_133378.4:c.31484-596G>A|_NM_133432.3:c.13658-21334G>A|_NM_133437.4:c.13859-21334G>A;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.36508G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1339;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0755;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,52;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant|SO:0001627|intron_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,0;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179528378;RS_dbsnp_common_v150_hg19_refseq=,2163008;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,71;Read_coverage=,135;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.8892946746551985;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001267550.2;Reverse_read_coverage=,83;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2699;SF=12,17,37;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128080a05170536000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.999;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_IC;transcript_id=,NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_001267550:exon171:c.G36508A:p.E12170K;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.1835;esp6500siv2_ea=0.0560;esp6500siv2_all=0.1835;esp6500siv2_ea=0.0560;1000g2015aug_all=0.259185;avsnp147=rs2163008;Kaviar_AF=0.135956;Kaviar_AC=21019;Kaviar_AN=154602;ExAC_ALL=0.1476;ExAC_AFR=0.4739;ExAC_AMR=0.2531;ExAC_EAS=0.1335;ExAC_FIN=0.1258;ExAC_NFE=0.0632;ExAC_OTH=0.1289;ExAC_SAS=0.2435;CLNALLELEID=189644;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=0.986;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=0.57;FATHMM_pred=T;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=0.127;CADD_raw=2.900;CADD_phred=21.9;DANN_score=0.725;fathmm-MKL_coding_score=0.006;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.930;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=3.77;phyloP7way_vertebrate=-0.435;phyloP20way_mammalian=-0.289;phastCons7way_vertebrate=0.264;phastCons20way_mammalian=0.661;SiPhy_29way_logOdds=7.980;GDI_full_10282015=.;dpsi_max_tissue=0.1604;dpsi_zscore=0.641;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1464;gnomAD_exome_AFR=0.4725;gnomAD_exome_AMR=0.2536;gnomAD_exome_ASJ=0.0710;gnomAD_exome_EAS=0.1340;gnomAD_exome_FIN=0.1223;gnomAD_exome_NFE=0.0595;gnomAD_exome_OTH=0.1173;gnomAD_exome_SAS=0.2391;gnomAD_genome_ALL=0.1882;gnomAD_genome_AFR=0.4600;gnomAD_genome_AMR=0.2158;gnomAD_genome_ASJ=0.09;gnomAD_genome_EAS=0.1266;gnomAD_genome_FIN=0.1203;gnomAD_genome_NFE=0.0572;gnomAD_genome_OTH=0.1186;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . . . . 1:128:0,67 . . . . 1:120:0,57 . . . . . . . . . . . . . . . . . . . 1:92:0,50 . . . . 2 179528759 192216;rs200513156 T C 119.30 . #_unique_end_positions=,16;#_unique_start_positions=,14;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0030;AF_EXAC_clinvar_20171029_hg19=,0.00207;AF_TGP_clinvar_20171029_hg19=,0.0002;ALLELEID_clinvar_20171029_hg19=,189647;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AN=1;Amino_acid_change=,NP_001254479.2:p.Glu12116Gly;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Glu12116Gly;BaseQRankSum=,0.47;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1837342|OMIM:608807|Orphanet:ORPHA140922|MedGen:C1858763|OMIM:604145|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Limb-girdle_muscular_dystrophy|_type_2J|Dilated_cardiomyopathy_1G|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179528759T>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;Coding_region_change=,NM_001256850.1:c.34265-977A>G|_NM_001267550.2:c.36347A>G|_NM_003319.4:c.13283-21715A>G|_NM_133378.4:c.31484-977A>G|_NM_133432.3:c.13658-21715A>G|_NM_133437.4:c.13859-21715A>G;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.36347A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;Exact_match=,clinvar_20171029_hg19|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,18;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8987;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant|SO:0001627|intron_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,119.2993993901156;Read_count=,19;Read_coverage=,43;Read_direction_test_probability=,0.9924681751426827;Read_position_test_probability=,0.9804305641765104;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001267550.2;Reverse_read_coverage=,25;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=2;conservation_score=,0.039;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_IC;transcript_id=,NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_001267550:exon169:c.A36347G:p.E12116G;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0030;esp6500siv2_ea=0.0040;esp6500siv2_all=0.0030;esp6500siv2_ea=0.0040;1000g2015aug_all=0.000199681;avsnp147=rs200513156;Kaviar_AF=0.0020828;Kaviar_AC=322;Kaviar_AN=154602;ExAC_ALL=0.0021;ExAC_AFR=0.0013;ExAC_AMR=0.0003;ExAC_EAS=0;ExAC_FIN=0.0002;ExAC_NFE=0.0034;ExAC_OTH=0;ExAC_SAS=0.0004;CLNALLELEID=189647;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=0.06;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.03;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=-0.84;FATHMM_pred=T;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=0.205;CADD_raw=0.496;CADD_phred=7.397;DANN_score=0.983;fathmm-MKL_coding_score=0.233;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.027;MetaSVM_pred=T;MetaLR_score=0.083;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=3.01;phyloP7way_vertebrate=0.018;phyloP20way_mammalian=-0.407;phastCons7way_vertebrate=0.552;phastCons20way_mammalian=0.143;SiPhy_29way_logOdds=6.357;GDI_full_10282015=.;dpsi_max_tissue=1.1996;dpsi_zscore=1.634;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0019;gnomAD_exome_AFR=0.0009;gnomAD_exome_AMR=0.0003;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0005;gnomAD_exome_NFE=0.0038;gnomAD_exome_OTH=0.0004;gnomAD_exome_SAS=0.0003;gnomAD_genome_ALL=0.0016;gnomAD_genome_AFR=0.0009;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0009;gnomAD_genome_NFE=0.0025;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-4 GT:DP:CLCAD2 . . 1:40:0,17 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2 179528788 221027;rs2115557 T C 91.97 . #_unique_end_positions=,16;#_unique_start_positions=,18;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0658;AF_ESP_clinvar_20171029_hg19=,0.0183;AF_EXAC_clinvar_20171029_hg19=,0.00617;AF_TGP_clinvar_20171029_hg19=,0.0184;ALLELEID_clinvar_20171029_hg19=,221131;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0072;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.9816|0.01837;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1837342|OMIM:608807|Orphanet:ORPHA140922|MedGen:C1858763|OMIM:604145;CLNDN_clinvar_20171029_hg19=,Limb-girdle_muscular_dystrophy|_type_2J|Dilated_cardiomyopathy_1G;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179528788T>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_single_submitter;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.34265-1006A>G|_NM_001267550.2:c.36318A>G|_NM_003319.4:c.13283-21744A>G|_NM_133378.4:c.31484-1006A>G|_NM_133432.3:c.13658-21744A>G|_NM_133437.4:c.13859-21744A>G;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.36318A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,21;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001627|intron_variant|SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;MTP_dbsnp_common_v150_hg19_refseq=,MTP;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,91.97306581510557;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179528788;RS_dbsnp_common_v150_hg19_refseq=,2115557;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,22;Read_coverage=,71;Read_direction_test_probability=,0.999640826981421;Read_position_test_probability=,0.7434508095759372;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001267550.2;Reverse_read_coverage=,50;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=36;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.969194|0.0308057;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128080305150537020100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0113636;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0423729;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.732;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_IC;transcript_id=,NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_001267550:exon169:c.A36318G:p.K12106K;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0183;esp6500siv2_ea=0.0013;esp6500siv2_all=0.0183;esp6500siv2_ea=0.0013;1000g2015aug_all=0.0183706;avsnp147=rs2115557;Kaviar_AF=0.0056338;Kaviar_AC=871;Kaviar_AN=154602;ExAC_ALL=0.0062;ExAC_AFR=0.0645;ExAC_AMR=0.0040;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0016;ExAC_OTH=0.0035;ExAC_SAS=0.0003;CLNALLELEID=221131;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-2.8911;dpsi_zscore=-2.128;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0056;gnomAD_exome_AFR=0.0637;gnomAD_exome_AMR=0.0044;gnomAD_exome_ASJ=0.0179;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0007;gnomAD_exome_OTH=0.0048;gnomAD_exome_SAS=0.0002;gnomAD_genome_ALL=0.0180;gnomAD_genome_AFR=0.0609;gnomAD_genome_AMR=0.0036;gnomAD_genome_ASJ=0.0166;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0007;gnomAD_genome_OTH=0.0082;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-10 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:59:0,19 . . . . . 2 179543217 46894;rs35112591 C T 96.21 . #_unique_end_positions=,24;#_unique_start_positions=,20;AC=15;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1362;AF_ESP_clinvar_20171029_hg19=,0.1527;AF_EXAC_clinvar_20171029_hg19=,0.25990;AF_TGP_clinvar_20171029_hg19=,0.2384;ALLELEID_clinvar_20171029_hg19=,56059;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1830;AN=15;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.3;CAF_dbsnp_common_v150_hg19_refseq=,0.7616|0.2384;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179543217C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:27133;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.32883G>A|_NM_001267550.2:c.33834G>A|_NM_003319.4:c.13283-36173G>A|_NM_133378.4:c.30102G>A|_NM_133432.3:c.13658-36173G>A|_NM_133437.4:c.13859-36173G>A;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.33834G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4454;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1581;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,24;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001627|intron_variant|SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,130.68099045018522;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179543217;RS_dbsnp_common_v150_hg19_refseq=,35112591;Read_count=,28;Read_coverage=,47;Read_direction_test_probability=,0.6776136449285499;Read_position_test_probability=,0.6749603748763756;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,23;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2853;SF=0,1,5,10,15,16,19,20,27,28,29,35,36,40;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.814101|0.185899;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05012808030517053e000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.987;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133378:exon141:c.G30102A:p.E10034E,TTN:NM_001256850:exon142:c.G32883A:p.E10961E,TTN:NM_001267550:exon144:c.G33834A:p.E11278E;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.1527;esp6500siv2_ea=0.1604;esp6500siv2_all=0.1527;esp6500siv2_ea=0.1604;1000g2015aug_all=0.238419;avsnp147=rs35112591;Kaviar_AF=0.172566;Kaviar_AC=26679;Kaviar_AN=154602;ExAC_ALL=0.2599;ExAC_AFR=0.1731;ExAC_AMR=0.2890;ExAC_EAS=0.5080;ExAC_FIN=0.1627;ExAC_NFE=0.2297;ExAC_OTH=0.2511;ExAC_SAS=0.2996;CLNALLELEID=56059;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=12.3012;dpsi_zscore=3.269;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1886;gnomAD_exome_AFR=0.1345;gnomAD_exome_AMR=0.1750;gnomAD_exome_ASJ=0.2093;gnomAD_exome_EAS=0.4362;gnomAD_exome_FIN=0.1237;gnomAD_exome_NFE=0.1558;gnomAD_exome_OTH=0.1810;gnomAD_exome_SAS=0.2628;gnomAD_genome_ALL=0.1674;gnomAD_genome_AFR=0.1399;gnomAD_genome_AMR=0.1976;gnomAD_genome_ASJ=0.1656;gnomAD_genome_EAS=0.4458;gnomAD_genome_FIN=0.1179;gnomAD_genome_NFE=0.1636;gnomAD_genome_OTH=0.1708;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 1:45:0,26 1:24:0,11 . . . 1:12:0,5 . . . . 1:31:0,12 . . . . 1:33:0,9 1:26:0,8 . . 1/1:24:0,24 1:45:0,18 . . . . . . 1:33:0,17 1:46:0,23 1:38:0,16 . . . . . 1:38:0,15 1:36:0,14 . . . 1:32:0,19 . 2 179544685 46889;rs368327166 C CTCT 200.00 . #_unique_end_positions=,22;#_unique_start_positions=,16;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0008;ALLELEID_clinvar_20171029_hg19=,56054;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0058;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001243779.1:p.Glu10855_Tyr10856insGlu|_NP_596869.4:p.Glu9928_Tyr9929insGlu|_NP_001254479.2:p.Glu11172_Tyr11173insGlu;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Glu11172_Tyr11173insGlu;BaseQRankSum=,-0.08;CAF_dbsnp_common_v150_hg19_refseq=,0.9954|0.004593;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1837342|OMIM:608807|Orphanet:ORPHA140922|MedGen:C1858763|OMIM:604145|MedGen:C2751898|OMIM:603829|MedGen:CN169374|MedGen:CN230736;CLNDN_clinvar_20171029_hg19=,Limb-girdle_muscular_dystrophy|_type_2J|Dilated_cardiomyopathy_1G|Paroxysmal_familial_ventricular_fibrillation_1|not_specified|Cardiovascular_phenotype;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179544686_179544688dupTCT;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_conflicting_interpretations;CLNVCSO_clinvar_20171029_hg19=,SO:1000035;CLNVC_clinvar_20171029_hg19=,Duplication;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.32562_32564dup|_NM_001267550.2:c.33513_33515dup|_NM_003319.4:c.13283-37644_13283-37642dup|_NM_133378.4:c.29781_29783dup|_NM_133432.3:c.13658-37644_13658-37642dup|_NM_133437.4:c.13859-37644_13859-37642dup;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.33513_33515dup;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0149;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,35;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,complex;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001627|intron_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;RSPOS_dbsnp_common_v150_hg19_refseq=,179544685;RS_dbsnp_common_v150_hg19_refseq=,368327166;Read_count=,28;Read_coverage=,67;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9239578345084623;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,32;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0031;SF=26;SSR_dbsnp_common_v150_hg19_refseq=,0;Start_by_3'_rule=,179544685;TOPMED_dbsnp_common_v150_hg19_refseq=,0.991346|0.00865444;VC_dbsnp_common_v150_hg19_refseq=,DIV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050068080005040026100200;WGT_dbsnp_common_v150_hg19_refseq=,1;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonframeshift_insertion;AAChange.refGene=TTN:NM_133378:exon137:c.29783_29784insAGA:p.E9928delinsEE,TTN:NM_001256850:exon138:c.32564_32565insAGA:p.E10855delinsEE,TTN:NM_001267550:exon140:c.33515_33516insAGA:p.E11172delinsEE;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0132;esp6500siv2_ea=0.0168;esp6500siv2_all=0.0132;esp6500siv2_ea=0.0168;1000g2015aug_all=0.00459265;avsnp147=rs368327166;Kaviar_AF=0.0003299;Kaviar_AC=51;Kaviar_AN=154602;ExAC_ALL=0.0110;ExAC_AFR=0.0031;ExAC_AMR=0.0034;ExAC_EAS=0;ExAC_FIN=0.0124;ExAC_NFE=0.0162;ExAC_OTH=0.0189;ExAC_SAS=0.0047;CLNALLELEID=56054;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|Paroxysmal_familial_ventricular_fibrillation_1|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:C2751898,OMIM:603829|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0113;gnomAD_exome_AFR=0.0033;gnomAD_exome_AMR=0.0041;gnomAD_exome_ASJ=0.0073;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0130;gnomAD_exome_NFE=0.0181;gnomAD_exome_OTH=0.0101;gnomAD_exome_SAS=0.0053;gnomAD_genome_ALL=0.0118;gnomAD_genome_AFR=0.0036;gnomAD_genome_AMR=0.0048;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0157;gnomAD_genome_NFE=0.0173;gnomAD_genome_OTH=0.0143;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . 1:66:0,28 . . . . . . . . . . . . . . . 2 179545859 46886;rs36051007 C T 121.05 . #_unique_end_positions=,18;#_unique_start_positions=,17;AC=20;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0068;AF_ESP_clinvar_20171029_hg19=,0.2264;AF_EXAC_clinvar_20171029_hg19=,0.23473;AF_TGP_clinvar_20171029_hg19=,0.1260;ALLELEID_clinvar_20171029_hg19=,56051;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1124;AN=20;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001243779.1:p.Arg10779His|_NP_001254479.2:p.Arg11096His|_NP_596869.4:p.Arg9852His;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Arg11096His;BaseQRankSum=,0.02;CAF_dbsnp_common_v150_hg19_refseq=,0.874|0.126;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179545859C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:26894;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.32336G>A|_NM_001267550.2:c.33287G>A|_NM_003319.4:c.13283-38815G>A|_NM_133378.4:c.29555G>A|_NM_133432.3:c.13658-38815G>A|_NM_133437.4:c.13859-38815G>A;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.33287G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0357;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3062;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,23;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant|SO:0001627|intron_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,156.53559774527022;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179545859;RS_dbsnp_common_v150_hg19_refseq=,36051007;Read_count=,25;Read_coverage=,47;Read_direction_test_probability=,0.9972350815972381;Read_position_test_probability=,0.9892287801738244;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,24;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2045;SF=0,2,4,5,6,7,10,11,17,23,26,31,32,33,38,39;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.823958|0.176042;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128080a0515053e000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.09;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon135:c.G29555A:p.R9852H,TTN:NM_001256850:exon136:c.G32336A:p.R10779H,TTN:NM_001267550:exon138:c.G33287A:p.R11096H;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.2264;esp6500siv2_ea=0.3031;esp6500siv2_all=0.2264;esp6500siv2_ea=0.3031;1000g2015aug_all=0.125998;avsnp147=rs36051007;Kaviar_AF=0.234117;Kaviar_AC=36195;Kaviar_AN=154602;ExAC_ALL=0.2347;ExAC_AFR=0.0475;ExAC_AMR=0.0979;ExAC_EAS=0.0369;ExAC_FIN=0.3948;ExAC_NFE=0.3005;ExAC_OTH=0.2517;ExAC_SAS=0.2134;CLNALLELEID=56051;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.418;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=-0.0;FATHMM_pred=T;PROVEAN_score=0.29;PROVEAN_pred=N;VEST3_score=0.059;CADD_raw=2.302;CADD_phred=18.18;DANN_score=0.845;fathmm-MKL_coding_score=0.021;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.023;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=-2.76;phyloP7way_vertebrate=0.021;phyloP20way_mammalian=-0.704;phastCons7way_vertebrate=0.981;phastCons20way_mammalian=0.834;SiPhy_29way_logOdds=4.624;GDI_full_10282015=.;dpsi_max_tissue=-4.5699;dpsi_zscore=-2.437;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2324;gnomAD_exome_AFR=0.0468;gnomAD_exome_AMR=0.1075;gnomAD_exome_ASJ=0.2039;gnomAD_exome_EAS=0.0373;gnomAD_exome_FIN=0.3791;gnomAD_exome_NFE=0.3030;gnomAD_exome_OTH=0.2315;gnomAD_exome_SAS=0.2085;gnomAD_genome_ALL=0.2327;gnomAD_genome_AFR=0.0520;gnomAD_genome_AMR=0.1283;gnomAD_genome_ASJ=0.1954;gnomAD_genome_EAS=0.0436;gnomAD_genome_FIN=0.3878;gnomAD_genome_NFE=0.3243;gnomAD_genome_OTH=0.3037;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 1:44:0,23 . 1/1:40:0,40 . 1:34:0,21 1:42:0,13 1:24:0,12 1/1:28:0,28 . . 1:49:0,24 1:27:0,8 . . . . . 1:48:0,24 . . . . . 1:35:0,15 . . 1/1:50:0,50 . . . . 1:33:0,16 1:30:0,16 1/1:31:0,31 . . . . 1:30:0,16 1:27:0,10 . . 2 179547465 46882;rs72650034 C T 200.00 . #_unique_end_positions=,39;#_unique_start_positions=,37;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0008;AF_ESP_clinvar_20171029_hg19=,0.0010;AF_EXAC_clinvar_20171029_hg19=,0.00084;AF_TGP_clinvar_20171029_hg19=,0.0014;ALLELEID_clinvar_20171029_hg19=,56047;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0043;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_596869.4:p.Arg9774Gln|_NP_001254479.2:p.Arg11018Gln|_NP_001243779.1:p.Arg10701Gln;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Arg11018Gln;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.9986|.|0.001398;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1837342|OMIM:608807|Orphanet:ORPHA140922|MedGen:C1858763|OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNDN_clinvar_20171029_hg19=,Limb-girdle_muscular_dystrophy|_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179547465C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_conflicting_interpretations;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.32102G>A|_NM_001267550.2:c.33053G>A|_NM_003319.4:c.13283-40421G>A|_NM_133378.4:c.29321G>A|_NM_133432.3:c.13658-40421G>A|_NM_133437.4:c.13859-40421G>A;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.33053G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0020;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,49;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant|SO:0001627|intron_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179547465;RS_dbsnp_common_v150_hg19_refseq=,72650034;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,51;Read_coverage=,90;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9793019388385712;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,41;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=41;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.998901|.|0.00109898;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050028080a05040436000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.005;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon132:c.G29321A:p.R9774Q,TTN:NM_001256850:exon133:c.G32102A:p.R10701Q,TTN:NM_001267550:exon135:c.G33053A:p.R11018Q;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0010;esp6500siv2_ea=0.0011;esp6500siv2_all=0.0010;esp6500siv2_ea=0.0011;1000g2015aug_all=0.00139776;avsnp147=rs72650034;Kaviar_AF=0.0009508;Kaviar_AC=147;Kaviar_AN=154602;ExAC_ALL=0.0008;ExAC_AFR=0.0006;ExAC_AMR=0.0010;ExAC_EAS=0.0013;ExAC_FIN=0.0003;ExAC_NFE=0.0010;ExAC_OTH=0.0011;ExAC_SAS=0;CLNALLELEID=56047;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.302;SIFT_pred=T;Polyphen2_HDIV_score=0.178;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.025;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=-0.09;FATHMM_pred=T;PROVEAN_score=-1.3;PROVEAN_pred=N;VEST3_score=0.216;CADD_raw=1.213;CADD_phred=11.82;DANN_score=0.611;fathmm-MKL_coding_score=0.034;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.981;MetaSVM_pred=T;MetaLR_score=0.124;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=2.16;phyloP7way_vertebrate=-0.461;phyloP20way_mammalian=0.016;phastCons7way_vertebrate=0.011;phastCons20way_mammalian=0.021;SiPhy_29way_logOdds=7.721;GDI_full_10282015=.;dpsi_max_tissue=-0.1572;dpsi_zscore=-0.597;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0008;gnomAD_exome_AFR=0.0007;gnomAD_exome_AMR=0.0007;gnomAD_exome_ASJ=0.0026;gnomAD_exome_EAS=0.0009;gnomAD_exome_FIN=8.982e-05;gnomAD_exome_NFE=0.0010;gnomAD_exome_OTH=0.0009;gnomAD_exome_SAS=9.78e-05;gnomAD_genome_ALL=0.0010;gnomAD_genome_AFR=0.0010;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0012;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:79:0,45 2 179549131 46874;rs116676813 C T 156.54 . #_unique_end_positions=,19;#_unique_start_positions=,19;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0015;AF_ESP_clinvar_20171029_hg19=,0.0133;AF_EXAC_clinvar_20171029_hg19=,0.01241;AF_TGP_clinvar_20171029_hg19=,0.0054;ALLELEID_clinvar_20171029_hg19=,56039;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001254479.2:p.Arg10883Lys|_NP_001243779.1:p.Arg10566Lys|_NP_596869.4:p.Arg9639Lys;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Arg10883Lys;BaseQRankSum=,-0.54;CAF_dbsnp_common_v150_hg19_refseq=,0.9946|0.005391;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1837342|OMIM:608807|Orphanet:ORPHA140922|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1858763|OMIM:604145|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy|_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179549131C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:81722;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.31697G>A|_NM_001267550.2:c.32648G>A|_NM_003319.4:c.13283-42087G>A|_NM_133378.4:c.28916G>A|_NM_133432.3:c.13658-42087G>A|_NM_133437.4:c.13859-42087G>A;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.32648G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0239;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,31;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant|SO:0001627|intron_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,156.53559774527022;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179549131;RS_dbsnp_common_v150_hg19_refseq=,116676813;Read_count=,24;Read_coverage=,56;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9117383739880003;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,25;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;SF=7;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.99162|0.0083797;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128080a05040436000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon129:c.G28916A:p.R9639K,TTN:NM_001256850:exon130:c.G31697A:p.R10566K,TTN:NM_001267550:exon132:c.G32648A:p.R10883K;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0133;esp6500siv2_ea=0.0180;esp6500siv2_all=0.0133;esp6500siv2_ea=0.0180;1000g2015aug_all=0.00539137;avsnp147=rs116676813;Kaviar_AF=0.0120956;Kaviar_AC=1870;Kaviar_AN=154602;ExAC_ALL=0.0124;ExAC_AFR=0.0030;ExAC_AMR=0.0023;ExAC_EAS=0.0001;ExAC_FIN=0.0303;ExAC_NFE=0.0176;ExAC_OTH=0.0080;ExAC_SAS=0.0036;CLNALLELEID=56039;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=0.345;MutationAssessor_pred=N;FATHMM_score=-0.09;FATHMM_pred=T;PROVEAN_score=-0.54;PROVEAN_pred=N;VEST3_score=0.162;CADD_raw=2.951;CADD_phred=22.1;DANN_score=0.916;fathmm-MKL_coding_score=0.510;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.034;MetaSVM_pred=T;MetaLR_score=0.038;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=1.43;phyloP7way_vertebrate=-0.734;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.987;phastCons20way_mammalian=0.999;SiPhy_29way_logOdds=1.088;GDI_full_10282015=.;dpsi_max_tissue=4.1999;dpsi_zscore=2.465;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0117;gnomAD_exome_AFR=0.0027;gnomAD_exome_AMR=0.0033;gnomAD_exome_ASJ=0.0018;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0.0298;gnomAD_exome_NFE=0.0168;gnomAD_exome_OTH=0.0088;gnomAD_exome_SAS=0.0036;gnomAD_genome_ALL=0.0133;gnomAD_genome_AFR=0.0031;gnomAD_genome_AMR=0.0084;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0315;gnomAD_genome_NFE=0.0168;gnomAD_genome_OTH=0.0163;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 . . . . . . . 1:49:0,22 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2 179549474 46871;rs201738153 G A 72.96 . #_unique_end_positions=,12;#_unique_start_positions=,12;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0001;AF_EXAC_clinvar_20171029_hg19=,0.00039;AF_TGP_clinvar_20171029_hg19=,0.0002;ALLELEID_clinvar_20171029_hg19=,56036;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AN=1;Amino_acid_change=,NP_001254479.2:p.Pro10853Ser|_NP_596869.4:p.Pro9609Ser|_NP_001243779.1:p.Pro10536Ser;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Pro10853Ser;BaseQRankSum=,-0.18;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1837342|OMIM:608807|Orphanet:ORPHA140922|MedGen:C1858763|OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNDN_clinvar_20171029_hg19=,Limb-girdle_muscular_dystrophy|_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179549474G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_conflicting_interpretations;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;Coding_region_change=,NM_001256850.1:c.31606C>T|_NM_001267550.2:c.32557C>T|_NM_003319.4:c.13283-42430C>T|_NM_133378.4:c.28825C>T|_NM_133432.3:c.13658-42430C>T|_NM_133437.4:c.13859-42430C>T;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.32557C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;Exact_match=,clinvar_20171029_hg19|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,18;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8985|rna8986|rna8987;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant|SO:0001627|intron_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,72.95666919928168;Read_count=,15;Read_coverage=,45;Read_direction_test_probability=,0.8334014509417116;Read_position_test_probability=,0.8672443112632882;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,27;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=0;conservation_score=,1.0;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon128:c.C28825T:p.P9609S,TTN:NM_001256850:exon129:c.C31606T:p.P10536S,TTN:NM_001267550:exon131:c.C32557T:p.P10853S;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=8.5e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=8.5e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=0.000199681;avsnp147=rs201738153;Kaviar_AF=0.0003752;Kaviar_AC=58;Kaviar_AN=154602;ExAC_ALL=0.0004;ExAC_AFR=0;ExAC_AMR=0.0018;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0004;ExAC_OTH=0.0022;ExAC_SAS=0;CLNALLELEID=56036;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.051;SIFT_pred=T;Polyphen2_HDIV_score=0.006;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.005;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.02;MutationAssessor_pred=M;FATHMM_score=-0.44;FATHMM_pred=T;PROVEAN_score=-3.61;PROVEAN_pred=D;VEST3_score=0.258;CADD_raw=2.695;CADD_phred=20.8;DANN_score=0.929;fathmm-MKL_coding_score=0.802;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.660;MetaSVM_pred=T;MetaLR_score=0.247;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=4.69;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.710;phastCons20way_mammalian=0.977;SiPhy_29way_logOdds=8.787;GDI_full_10282015=.;dpsi_max_tissue=1.7122;dpsi_zscore=1.868;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0004;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0012;gnomAD_exome_ASJ=0.0001;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0004;gnomAD_exome_OTH=0.0011;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0002;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0004;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=6 GT:DP:CLCAD2 1:38:0,13 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2 179554305 46859;rs2244492 C T 105.65 . #_unique_end_positions=,22;#_unique_start_positions=,18;AC=24;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6067;AF_ESP_clinvar_20171029_hg19=,0.4335;AF_EXAC_clinvar_20171029_hg19=,0.39948;AF_TGP_clinvar_20171029_hg19=,0.4133;ALLELEID_clinvar_20171029_hg19=,56024;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3501;AN=24;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001254479.2:p.Gly10622Arg|_NP_001243779.1:p.Gly10305Arg|_NP_596869.4:p.Gly9378Arg;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Gly10622Arg;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.5867|0.4133;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179554305C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:26912;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.30913G>A|_NM_001267550.2:c.31864G>A|_NM_003319.4:c.13283-47261G>A|_NM_133378.4:c.28132G>A|_NM_133432.3:c.13658-47261G>A|_NM_133437.4:c.13859-47261G>A;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.31864G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1677;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3827;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,21;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant|SO:0001627|intron_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179554305;RS_dbsnp_common_v150_hg19_refseq=,2244492;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,25;Read_coverage=,55;Read_direction_test_probability=,0.8679781618682677;Read_position_test_probability=,0.9485188375630166;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,34;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4816;SF=0,2,4,5,6,7,10,11,12,17,23,26,31,32,33,36,37,38,39;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.532248|0.467752;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128080a0517053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.591837;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.411504;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.195122;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.152941;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.460227;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.116279;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.122093;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.572222;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.43;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.486014;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.284091;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.620536;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.96;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon120:c.G28132A:p.G9378R,TTN:NM_001256850:exon121:c.G30913A:p.G10305R,TTN:NM_001267550:exon123:c.G31864A:p.G10622R;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.4335;esp6500siv2_ea=0.3605;esp6500siv2_all=0.4335;esp6500siv2_ea=0.3605;1000g2015aug_all=0.413339;avsnp147=rs2244492;Kaviar_AF=0.373372;Kaviar_AC=57724;Kaviar_AN=154602;ExAC_ALL=0.3995;ExAC_AFR=0.6112;ExAC_AMR=0.3622;ExAC_EAS=0.1783;ExAC_FIN=0.5181;ExAC_NFE=0.3697;ExAC_OTH=0.3943;ExAC_SAS=0.4653;CLNALLELEID=56024;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.801;SIFT_pred=T;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-0.345;MutationAssessor_pred=N;FATHMM_score=-0.07;FATHMM_pred=T;PROVEAN_score=3.29;PROVEAN_pred=N;VEST3_score=0.224;CADD_raw=4.097;CADD_phred=23.7;DANN_score=0.921;fathmm-MKL_coding_score=0.001;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.948;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.34;phyloP7way_vertebrate=0.084;phyloP20way_mammalian=0.044;phastCons7way_vertebrate=0.967;phastCons20way_mammalian=0.991;SiPhy_29way_logOdds=10.226;GDI_full_10282015=.;dpsi_max_tissue=5.5745;dpsi_zscore=2.669;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3810;gnomAD_exome_AFR=0.6075;gnomAD_exome_AMR=0.3612;gnomAD_exome_ASJ=0.2765;gnomAD_exome_EAS=0.1671;gnomAD_exome_FIN=0.4987;gnomAD_exome_NFE=0.3561;gnomAD_exome_OTH=0.3513;gnomAD_exome_SAS=0.4533;gnomAD_genome_ALL=0.4460;gnomAD_genome_AFR=0.5991;gnomAD_genome_AMR=0.3565;gnomAD_genome_ASJ=0.2848;gnomAD_genome_EAS=0.1691;gnomAD_genome_FIN=0.5072;gnomAD_genome_NFE=0.3821;gnomAD_genome_OTH=0.4276;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 1:46:0,23 . 1/1:27:0,27 . 1:34:0,13 1:13:0,5 1:17:0,7 1/1:33:0,33 . . 1:35:0,17 1:21:0,10 1:43:0,20 . . . . 1/1:50:0,50 . . . . . 1:39:0,28 . . 1/1:37:0,37 . . . . 1:22:0,10 1:26:0,13 1/1:27:0,27 . . 1:38:0,22 1:31:0,20 1:38:0,14 1:28:0,12 . . 2 179554549 46858;rs200213832 G C 76.51 . #_unique_end_positions=,11;#_unique_start_positions=,9;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0001;AF_EXAC_clinvar_20171029_hg19=,0.00034;AF_TGP_clinvar_20171029_hg19=,0.0006;ALLELEID_clinvar_20171029_hg19=,56023;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0014;AN=1;Amino_acid_change=,NP_001254479.2:p.Pro10613Ala|_NP_001243779.1:p.Pro10296Ala|_NP_596869.4:p.Pro9369Ala;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Pro10613Ala;BaseQRankSum=,0.0;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1837342|OMIM:608807|Orphanet:ORPHA140922|MedGen:C1858763|OMIM:604145|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Limb-girdle_muscular_dystrophy|_type_2J|Dilated_cardiomyopathy_1G|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179554549G>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;Coding_region_change=,NM_001256850.1:c.30886C>G|_NM_001267550.2:c.31837C>G|_NM_003319.4:c.13283-47505C>G|_NM_133378.4:c.28105C>G|_NM_133432.3:c.13658-47505C>G|_NM_133437.4:c.13859-47505C>G;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.31837C>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0020;Exact_match=,clinvar_20171029_hg19|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,18;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,C/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8985|rna8986|rna8987;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant|SO:0001627|intron_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,76.51209511588377;Read_count=,11;Read_coverage=,28;Read_direction_test_probability=,0.9484408869791756;Read_position_test_probability=,0.990005895603736;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,10;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=15;conservation_score=,0.995;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon119:c.C28105G:p.P9369A,TTN:NM_001256850:exon120:c.C30886G:p.P10296A,TTN:NM_001267550:exon122:c.C31837G:p.P10613A;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=8.4e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=8.4e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=0.000599042;avsnp147=rs200213832;Kaviar_AF=0.0002911;Kaviar_AC=45;Kaviar_AN=154602;ExAC_ALL=0.0003;ExAC_AFR=0;ExAC_AMR=0.0004;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0005;ExAC_OTH=0;ExAC_SAS=0.0002;CLNALLELEID=56023;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.016;SIFT_pred=D;Polyphen2_HDIV_score=0.944;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.572;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=1.95;MutationAssessor_pred=M;FATHMM_score=-0.67;FATHMM_pred=T;PROVEAN_score=-4.05;PROVEAN_pred=D;VEST3_score=0.342;CADD_raw=1.700;CADD_phred=14.41;DANN_score=0.981;fathmm-MKL_coding_score=0.967;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.209;MetaSVM_pred=T;MetaLR_score=0.371;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=4.63;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.972;phastCons20way_mammalian=0.997;SiPhy_29way_logOdds=15.896;GDI_full_10282015=.;dpsi_max_tissue=3.5186;dpsi_zscore=2.341;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0004;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0008;gnomAD_exome_ASJ=0.0006;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0004;gnomAD_exome_OTH=0.0011;gnomAD_exome_SAS=0.0003;gnomAD_genome_ALL=0.0002;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0003;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . . . . . . . . 1:27:0,11 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 179558366 46852;rs2042995 T C 88.87 . #_unique_end_positions=,17;#_unique_start_positions=,13;AC=21;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5877;AF_ESP_clinvar_20171029_hg19=,0.3297;AF_EXAC_clinvar_20171029_hg19=,0.35364;AF_TGP_clinvar_20171029_hg19=,0.4778;ALLELEID_clinvar_20171029_hg19=,56017;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4193;AN=21;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001243779.1:p.Ile10205Val|_NP_596869.4:p.Ile9278Val|_NP_001254479.2:p.Ile10522Val;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Ile10522Val;BaseQRankSum=,0.27;CAF_dbsnp_common_v150_hg19_refseq=,0.5222|0.4778;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179558366T>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:27144;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.30613A>G|_NM_001267550.2:c.31564A>G|_NM_003319.4:c.13282+44443A>G|_NM_133378.4:c.27832A>G|_NM_133432.3:c.13657+44443A>G|_NM_133437.4:c.13858+44443A>G;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.31564A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5685;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2455;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,22;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant|SO:0001627|intron_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,130.20091318947436;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179558366;RS_dbsnp_common_v150_hg19_refseq=,2042995;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,19;Read_coverage=,39;Read_direction_test_probability=,0.949935293779667;Read_position_test_probability=,0.8838290866316992;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,17;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5164;SF=0,1,5,10,12,14,15,16,17,19,20,27,28,29,35,36,37,40;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.58287|0.41713;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128080a0515053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.530612;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.183333;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.585366;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.564706;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.477273;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.455556;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.533333;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.561111;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.357143;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.391608;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.255682;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.675;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon116:c.A27832G:p.I9278V,TTN:NM_001256850:exon117:c.A30613G:p.I10205V,TTN:NM_001267550:exon119:c.A31564G:p.I10522V;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.3297;esp6500siv2_ea=0.2286;esp6500siv2_all=0.3297;esp6500siv2_ea=0.2286;1000g2015aug_all=0.477835;avsnp147=rs2042995;Kaviar_AF=0.327027;Kaviar_AC=50559;Kaviar_AN=154602;ExAC_ALL=0.3536;ExAC_AFR=0.5674;ExAC_AMR=0.4494;ExAC_EAS=0.5761;ExAC_FIN=0.2636;ExAC_NFE=0.2457;ExAC_OTH=0.3235;ExAC_SAS=0.5004;CLNALLELEID=56017;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.095;MutationAssessor_pred=N;FATHMM_score=0.18;FATHMM_pred=T;PROVEAN_score=0.57;PROVEAN_pred=N;VEST3_score=0.149;CADD_raw=1.533;CADD_phred=13.49;DANN_score=0.713;fathmm-MKL_coding_score=0.108;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.002;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=5.85;phyloP7way_vertebrate=0.002;phyloP20way_mammalian=0.066;phastCons7way_vertebrate=0.985;phastCons20way_mammalian=0.983;SiPhy_29way_logOdds=9.311;GDI_full_10282015=.;dpsi_max_tissue=-0.2432;dpsi_zscore=-0.764;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3362;gnomAD_exome_AFR=0.5576;gnomAD_exome_AMR=0.4319;gnomAD_exome_ASJ=0.2672;gnomAD_exome_EAS=0.5716;gnomAD_exome_FIN=0.2530;gnomAD_exome_NFE=0.2271;gnomAD_exome_OTH=0.3001;gnomAD_exome_SAS=0.4793;gnomAD_genome_ALL=0.3459;gnomAD_genome_AFR=0.5499;gnomAD_genome_AMR=0.4233;gnomAD_genome_ASJ=0.2417;gnomAD_genome_EAS=0.5661;gnomAD_genome_FIN=0.2424;gnomAD_genome_NFE=0.2289;gnomAD_genome_OTH=0.2888;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 1:36:0,17 1:20:0,9 . . . 1:17:0,11 . . . . 1:38:0,20 . 1:42:0,17 . 1:32:0,14 1:26:0,12 1:28:0,15 1:29:0,15 . 1/1:22:0,22 1:34:0,11 . . . . . . 1:39:0,11 1:43:0,13 1:28:0,9 . . . . . 1/1:20:0,20 1/1:27:0,27 1:31:0,12 . . 1:39:0,16 . 2 179569387 46826;rs72650006 T A 200.00 . #_unique_end_positions=,27;#_unique_start_positions=,29;AC=2;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0205;AF_EXAC_clinvar_20171029_hg19=,0.01988;AF_TGP_clinvar_20171029_hg19=,0.0106;ALLELEID_clinvar_20171029_hg19=,55991;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0187;AN=2;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_596869.4:p.Thr8694Ser|_NP_001243779.1:p.Thr9621Ser|_NP_001254479.2:p.Thr9938Ser;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Thr9938Ser;BaseQRankSum=,0.1;CAF_dbsnp_common_v150_hg19_refseq=,0.9894|0.01058;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1837342|OMIM:608807|Orphanet:ORPHA140922|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1858763|OMIM:604145|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy|_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179569387T>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:54046;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.28861A>T|_NM_001267550.2:c.29812A>T|_NM_003319.4:c.13282+33422A>T|_NM_133378.4:c.26080A>T|_NM_133432.3:c.13657+33422A>T|_NM_133437.4:c.13858+33422A>T;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.29812A>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0288;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,43;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,A/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant|SO:0001627|intron_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179569387;RS_dbsnp_common_v150_hg19_refseq=,72650006;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,42;Read_coverage=,97;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.930724909057841;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,54;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0112;SF=13,22;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.985954|0.0140463;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128080a05140436000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.997;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon102:c.A26080T:p.T8694S,TTN:NM_001256850:exon103:c.A28861T:p.T9621S,TTN:NM_001267550:exon105:c.A29812T:p.T9938S;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0205;esp6500siv2_ea=0.0266;esp6500siv2_all=0.0205;esp6500siv2_ea=0.0266;1000g2015aug_all=0.0105831;avsnp147=rs72650006;Kaviar_AF=0.0191459;Kaviar_AC=2960;Kaviar_AN=154602;ExAC_ALL=0.0199;ExAC_AFR=0.0048;ExAC_AMR=0.0141;ExAC_EAS=0.0003;ExAC_FIN=0.0283;ExAC_NFE=0.0259;ExAC_OTH=0.0260;ExAC_SAS=0.0152;CLNALLELEID=55991;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.495;SIFT_pred=T;Polyphen2_HDIV_score=0.146;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.119;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=1.5;MutationAssessor_pred=L;FATHMM_score=1.08;FATHMM_pred=T;PROVEAN_score=-2.53;PROVEAN_pred=D;VEST3_score=0.123;CADD_raw=2.427;CADD_phred=19.00;DANN_score=0.905;fathmm-MKL_coding_score=0.989;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.045;MetaSVM_pred=T;MetaLR_score=0.047;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.82;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=1.061;phastCons7way_vertebrate=0.994;phastCons20way_mammalian=0.997;SiPhy_29way_logOdds=16.181;GDI_full_10282015=.;dpsi_max_tissue=0.0233;dpsi_zscore=0.157;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0193;gnomAD_exome_AFR=0.0039;gnomAD_exome_AMR=0.0151;gnomAD_exome_ASJ=0.0179;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0.0261;gnomAD_exome_NFE=0.0255;gnomAD_exome_OTH=0.0223;gnomAD_exome_SAS=0.0154;gnomAD_genome_ALL=0.0191;gnomAD_genome_AFR=0.0045;gnomAD_genome_AMR=0.0060;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0229;gnomAD_genome_NFE=0.0296;gnomAD_genome_OTH=0.0193;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 . . . . . . . . . . . . . 1:91:0,39 . . . . . . . . 1:57:0,28 . . . . . . . . . . . . . . . . . . . 2 179571448 46818;rs4893852 A G 200.00 . #_unique_end_positions=,29;#_unique_start_positions=,28;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2231;AF_ESP_clinvar_20171029_hg19=,0.0783;AF_EXAC_clinvar_20171029_hg19=,0.07970;AF_TGP_clinvar_20171029_hg19=,0.1274;ALLELEID_clinvar_20171029_hg19=,55983;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1556;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001243779.1:p.Ile9401Thr|_NP_596869.4:p.Ile8474Thr|_NP_001254479.2:p.Ile9718Thr;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Ile9718Thr;BaseQRankSum=,-0.09;CAF_dbsnp_common_v150_hg19_refseq=,0.8726|.|0.1274;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179571448A>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:87973;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.28202T>C|_NM_001267550.2:c.29153T>C|_NM_003319.4:c.13282+31361T>C|_NM_133378.4:c.25421T>C|_NM_133432.3:c.13657+31361T>C|_NM_133437.4:c.13858+31361T>C;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.29153T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0258;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0358;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,29;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant|SO:0001627|intron_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179571448;RS_dbsnp_common_v150_hg19_refseq=,4893852;Read_count=,40;Read_coverage=,70;Read_direction_test_probability=,0.9721414064723953;Read_position_test_probability=,0.9894509900427667;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,41;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1769;SF=17;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.88368|.|0.11632;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050328080a05150537000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.27551;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.025;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.0375;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.0352941;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.155172;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.255556;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.15;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.157343;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.0113636;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.158333;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon99:c.T25421C:p.I8474T,TTN:NM_001256850:exon100:c.T28202C:p.I9401T,TTN:NM_001267550:exon102:c.T29153C:p.I9718T;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0783;esp6500siv2_ea=0.0261;esp6500siv2_all=0.0783;esp6500siv2_ea=0.0261;1000g2015aug_all=0.127396;avsnp147=rs4893852;Kaviar_AF=0.0753807;Kaviar_AC=11654;Kaviar_AN=154602;ExAC_ALL=0.0797;ExAC_AFR=0.2076;ExAC_AMR=0.1949;ExAC_EAS=0.0277;ExAC_FIN=0.0582;ExAC_NFE=0.0280;ExAC_OTH=0.0878;ExAC_SAS=0.1676;CLNALLELEID=55983;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.757;SIFT_pred=T;Polyphen2_HDIV_score=0.4;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.191;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.288;MutationTaster_pred=P;MutationAssessor_score=-1.285;MutationAssessor_pred=N;FATHMM_score=-0.08;FATHMM_pred=T;PROVEAN_score=-3.0;PROVEAN_pred=D;VEST3_score=0.313;CADD_raw=2.835;CADD_phred=21.5;DANN_score=0.909;fathmm-MKL_coding_score=0.988;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.018;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=6.16;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.199;phastCons7way_vertebrate=0.999;phastCons20way_mammalian=0.995;SiPhy_29way_logOdds=16.806;GDI_full_10282015=.;dpsi_max_tissue=0.2754;dpsi_zscore=0.854;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0827;gnomAD_exome_AFR=0.2042;gnomAD_exome_AMR=0.1949;gnomAD_exome_ASJ=0.0421;gnomAD_exome_EAS=0.0281;gnomAD_exome_FIN=0.0570;gnomAD_exome_NFE=0.0270;gnomAD_exome_OTH=0.0655;gnomAD_exome_SAS=0.1686;gnomAD_genome_ALL=0.0849;gnomAD_genome_AFR=0.2044;gnomAD_genome_AMR=0.1722;gnomAD_genome_ASJ=0.0397;gnomAD_genome_EAS=0.0336;gnomAD_genome_FIN=0.0527;gnomAD_genome_NFE=0.0260;gnomAD_genome_OTH=0.0612;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . 1:65:0,39 . . . . . . . . . . . . . . . . . . . . . . . . 2 179575511 46808;rs72648998 C T 200.00 . #_unique_end_positions=,65;#_unique_start_positions=,54;AC=6;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0432;AF_EXAC_clinvar_20171029_hg19=,0.04512;AF_TGP_clinvar_20171029_hg19=,0.0274;ALLELEID_clinvar_20171029_hg19=,55973;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0807;AN=6;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001243779.1:p.Arg9121Gln|_NP_001254479.2:p.Arg9438Gln|_NP_596869.4:p.Arg8194Gln;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Arg9438Gln;BaseQRankSum=,-0.1;CAF_dbsnp_common_v150_hg19_refseq=,0.9726|0.02736;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1837342|OMIM:608807|Orphanet:ORPHA140922|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1858763|OMIM:604145|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy|_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179575511C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:27173;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.27362G>A|_NM_001267550.2:c.28313G>A|_NM_003319.4:c.13282+27298G>A|_NM_133378.4:c.24581G>A|_NM_133432.3:c.13657+27298G>A|_NM_133437.4:c.13858+27298G>A;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.28313G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0547;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,137;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant|SO:0001627|intron_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179575511;RS_dbsnp_common_v150_hg19_refseq=,72648998;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,114;Read_coverage=,213;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9819570925522135;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,76;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0266;SF=1,14,19,20,29;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.953156|0.0468439;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050328080a05150436000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon95:c.G24581A:p.R8194Q,TTN:NM_001256850:exon96:c.G27362A:p.R9121Q,TTN:NM_001267550:exon98:c.G28313A:p.R9438Q;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0432;esp6500siv2_ea=0.0570;esp6500siv2_all=0.0432;esp6500siv2_ea=0.0570;1000g2015aug_all=0.0273562;avsnp147=rs72648998;Kaviar_AF=0.0463448;Kaviar_AC=7165;Kaviar_AN=154602;ExAC_ALL=0.0451;ExAC_AFR=0.0102;ExAC_AMR=0.0993;ExAC_EAS=0;ExAC_FIN=0.0204;ExAC_NFE=0.0518;ExAC_OTH=0.0389;ExAC_SAS=0.0348;CLNALLELEID=55973;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.317;SIFT_pred=T;Polyphen2_HDIV_score=0.175;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.033;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.997;MutationTaster_pred=P;MutationAssessor_score=1.66;MutationAssessor_pred=L;FATHMM_score=-0.25;FATHMM_pred=T;PROVEAN_score=-2.01;PROVEAN_pred=N;VEST3_score=0.244;CADD_raw=3.915;CADD_phred=23.5;DANN_score=0.980;fathmm-MKL_coding_score=0.913;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.757;MetaSVM_pred=T;MetaLR_score=0.036;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.3;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=0.997;SiPhy_29way_logOdds=9.955;GDI_full_10282015=.;dpsi_max_tissue=-0.9784;dpsi_zscore=-1.459;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0480;gnomAD_exome_AFR=0.0092;gnomAD_exome_AMR=0.0956;gnomAD_exome_ASJ=0.0526;gnomAD_exome_EAS=5.801e-05;gnomAD_exome_FIN=0.0198;gnomAD_exome_NFE=0.0552;gnomAD_exome_OTH=0.0467;gnomAD_exome_SAS=0.0356;gnomAD_genome_ALL=0.0371;gnomAD_genome_AFR=0.0127;gnomAD_genome_AMR=0.0895;gnomAD_genome_ASJ=0.0430;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0201;gnomAD_genome_NFE=0.0558;gnomAD_genome_OTH=0.0418;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 . 1:180:0,96 . . . . . . . . . . . . 1:212:0,107 . . . . 1/1:123:0,123 1:162:0,66 . . . . . . . . 1:173:0,78 . . . . . . . . . . . . 2 179578704 46786;rs13398235 G A 200.00 . #_unique_end_positions=,26;#_unique_start_positions=,22;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1649;AF_ESP_clinvar_20171029_hg19=,0.0615;AF_EXAC_clinvar_20171029_hg19=,0.07511;AF_TGP_clinvar_20171029_hg19=,0.1114;ALLELEID_clinvar_20171029_hg19=,55951;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1527;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001243779.1:p.Pro8577Leu|_NP_001254479.2:p.Pro8894Leu|_NP_596869.4:p.Pro7650Leu;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Pro8894Leu;BaseQRankSum=,0.24;CAF_dbsnp_common_v150_hg19_refseq=,0.8886|0.1114;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179578704G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:87980;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.25730C>T|_NM_001267550.2:c.26681C>T|_NM_003319.4:c.13282+24105C>T|_NM_133378.4:c.22949C>T|_NM_133432.3:c.13657+24105C>T|_NM_133437.4:c.13858+24105C>T;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.26681C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0258;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0358;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,59;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant|SO:0001627|intron_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179578704;RS_dbsnp_common_v150_hg19_refseq=,13398235;Read_count=,38;Read_coverage=,120;Read_direction_test_probability=,0.529629993620129;Read_position_test_probability=,0.8679602068048887;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,61;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1759;SF=17;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.906072|0.0939282;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050328080a05150537000101;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.244898;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0221239;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.0365854;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.0352941;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.159091;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.185393;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.15;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.13986;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.0113636;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.128319;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.349;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon89:c.C22949T:p.P7650L,TTN:NM_001256850:exon90:c.C25730T:p.P8577L,TTN:NM_001267550:exon92:c.C26681T:p.P8894L;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0615;esp6500siv2_ea=0.0256;esp6500siv2_all=0.0615;esp6500siv2_ea=0.0256;1000g2015aug_all=0.111422;avsnp147=rs13398235;Kaviar_AF=0.0705812;Kaviar_AC=10912;Kaviar_AN=154602;ExAC_ALL=0.0751;ExAC_AFR=0.1555;ExAC_AMR=0.1936;ExAC_EAS=0.0279;ExAC_FIN=0.0588;ExAC_NFE=0.0277;ExAC_OTH=0.0863;ExAC_SAS=0.1669;CLNALLELEID=55951;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.755;SIFT_pred=T;Polyphen2_HDIV_score=0.066;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.011;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.808;MutationTaster_pred=P;MutationAssessor_score=-0.475;MutationAssessor_pred=N;FATHMM_score=1.07;FATHMM_pred=T;PROVEAN_score=-4.69;PROVEAN_pred=D;VEST3_score=0.263;CADD_raw=2.101;CADD_phred=16.86;DANN_score=0.810;fathmm-MKL_coding_score=0.807;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.124;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=6.07;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.378;phastCons20way_mammalian=0.015;SiPhy_29way_logOdds=9.129;GDI_full_10282015=.;dpsi_max_tissue=-2.4437;dpsi_zscore=-2.027;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0786;gnomAD_exome_AFR=0.1518;gnomAD_exome_AMR=0.1913;gnomAD_exome_ASJ=0.0419;gnomAD_exome_EAS=0.0281;gnomAD_exome_FIN=0.0577;gnomAD_exome_NFE=0.0265;gnomAD_exome_OTH=0.0617;gnomAD_exome_SAS=0.1670;gnomAD_genome_ALL=0.0701;gnomAD_genome_AFR=0.1530;gnomAD_genome_AMR=0.1695;gnomAD_genome_ASJ=0.0397;gnomAD_genome_EAS=0.0340;gnomAD_genome_FIN=0.0536;gnomAD_genome_NFE=0.0254;gnomAD_genome_OTH=0.0591;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . 1:106:0,35 . . . . . . . . . . . . . . . . . . . . . . . . 2 179578730 46784;rs2562839 G A 200.00 . #_unique_end_positions=,28;#_unique_start_positions=,24;AC=19;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4644;AF_ESP_clinvar_20171029_hg19=,0.2642;AF_EXAC_clinvar_20171029_hg19=,0.30605;AF_TGP_clinvar_20171029_hg19=,0.4447;ALLELEID_clinvar_20171029_hg19=,55949;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3790;AN=19;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.26;CAF_dbsnp_common_v150_hg19_refseq=,0.5553|0.4447;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179578730G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:27181;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.25704C>T|_NM_001267550.2:c.26655C>T|_NM_003319.4:c.13282+24079C>T|_NM_133378.4:c.22923C>T|_NM_133432.3:c.13657+24079C>T|_NM_133437.4:c.13858+24079C>T;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.26655C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6567;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2237;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,58;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001627|intron_variant|SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179578730;RS_dbsnp_common_v150_hg19_refseq=,2562839;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,50;Read_coverage=,118;Read_direction_test_probability=,0.9374484102803;Read_position_test_probability=,0.9626940674326487;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,60;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4734;SF=0,1,5,10,12,14,15,16,17,19,20,27,28,29,35,36,40;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.650148|0.349852;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05032808030517053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.469388;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.181416;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.658537;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.696429;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.403409;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.571429;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.598837;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.438889;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.325175;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.227273;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.438053;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.997;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133378:exon89:c.C22923T:p.S7641S,TTN:NM_001256850:exon90:c.C25704T:p.S8568S,TTN:NM_001267550:exon92:c.C26655T:p.S8885S;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.2641;esp6500siv2_ea=0.2012;esp6500siv2_all=0.2641;esp6500siv2_ea=0.2012;1000g2015aug_all=0.444688;avsnp147=rs2562839;Kaviar_AF=0.296794;Kaviar_AC=45885;Kaviar_AN=154602;ExAC_ALL=0.3061;ExAC_AFR=0.4213;ExAC_AMR=0.4167;ExAC_EAS=0.6651;ExAC_FIN=0.2082;ExAC_NFE=0.2023;ExAC_OTH=0.2803;ExAC_SAS=0.4334;CLNALLELEID=55949;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.7889;dpsi_zscore=-1.829;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3071;gnomAD_exome_AFR=0.4216;gnomAD_exome_AMR=0.4143;gnomAD_exome_ASJ=0.2000;gnomAD_exome_EAS=0.6664;gnomAD_exome_FIN=0.2038;gnomAD_exome_NFE=0.2022;gnomAD_exome_OTH=0.2645;gnomAD_exome_SAS=0.4297;gnomAD_genome_ALL=0.2940;gnomAD_genome_AFR=0.4240;gnomAD_genome_AMR=0.4007;gnomAD_genome_ASJ=0.1987;gnomAD_genome_EAS=0.6512;gnomAD_genome_FIN=0.1926;gnomAD_genome_NFE=0.2036;gnomAD_genome_OTH=0.2475;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 1:93:0,40 1:84:0,40 . . . 1:105:0,57 . . . . 1:135:0,74 . 1:86:0,34 . 1:154:0,75 1:94:0,48 1:99:0,51 1:105:0,41 . 1/1:79:0,79 1:133:0,61 . . . . . . 1:152:0,75 1:127:0,64 1:114:0,65 . . . . . 1/1:125:0,125 1:96:0,43 . . . 1:105:0,50 . 2 179579093 46777;rs12693164 T C 197.47 . #_unique_end_positions=,52;#_unique_start_positions=,52;AC=18;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1936;AF_ESP_clinvar_20171029_hg19=,0.1529;AF_EXAC_clinvar_20171029_hg19=,0.17930;AF_TGP_clinvar_20171029_hg19=,0.2470;ALLELEID_clinvar_20171029_hg19=,55942;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1859;AN=18;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001243779.1:p.Asn8486Ser|_NP_001254479.2:p.Asn8803Ser|_NP_596869.4:p.Asn7559Ser;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Asn8803Ser;BaseQRankSum=,0.36;CAF_dbsnp_common_v150_hg19_refseq=,0.753|0.247;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179579093T>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:27197;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.25457A>G|_NM_001267550.2:c.26408A>G|_NM_003319.4:c.13282+23716A>G|_NM_133378.4:c.22676A>G|_NM_133432.3:c.13657+23716A>G|_NM_133437.4:c.13858+23716A>G;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.26408A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4365;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1561;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,67;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant|SO:0001627|intron_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179579093;RS_dbsnp_common_v150_hg19_refseq=,12693164;Read_count=,80;Read_coverage=,146;Read_direction_test_probability=,0.9849194983594477;Read_position_test_probability=,0.8295429807961776;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,79;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2607;SF=0,1,5,10,12,14,15,16,19,20,27,28,29,35,36,40;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.806855|0.193145;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050328080a0517053f000101;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.183673;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0833333;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.439024;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.452941;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.227273;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.366667;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.455556;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.194444;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.09;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.115385;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.193182;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.25;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.983;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon88:c.A22676G:p.N7559S,TTN:NM_001256850:exon89:c.A25457G:p.N8486S,TTN:NM_001267550:exon91:c.A26408G:p.N8803S;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.1529;esp6500siv2_ea=0.1506;esp6500siv2_all=0.1529;esp6500siv2_ea=0.1506;1000g2015aug_all=0.247005;avsnp147=rs12693164;Kaviar_AF=0.175845;Kaviar_AC=27186;Kaviar_AN=154602;ExAC_ALL=0.1793;ExAC_AFR=0.1616;ExAC_AMR=0.1766;ExAC_EAS=0.4260;ExAC_FIN=0.0940;ExAC_NFE=0.1458;ExAC_OTH=0.1589;ExAC_SAS=0.2339;CLNALLELEID=55942;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.057;SIFT_pred=T;Polyphen2_HDIV_score=0.018;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.004;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.999;MutationTaster_pred=P;MutationAssessor_score=1.245;MutationAssessor_pred=L;FATHMM_score=-0.3;FATHMM_pred=T;PROVEAN_score=-2.09;PROVEAN_pred=N;VEST3_score=0.036;CADD_raw=-0.712;CADD_phred=0.068;DANN_score=0.409;fathmm-MKL_coding_score=0.848;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.992;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=2.25;phyloP7way_vertebrate=0.073;phyloP20way_mammalian=-0.211;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=0.986;SiPhy_29way_logOdds=12.175;GDI_full_10282015=.;dpsi_max_tissue=-0.1118;dpsi_zscore=-0.484;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1789;gnomAD_exome_AFR=0.1641;gnomAD_exome_AMR=0.1766;gnomAD_exome_ASJ=0.1268;gnomAD_exome_EAS=0.4294;gnomAD_exome_FIN=0.0950;gnomAD_exome_NFE=0.1501;gnomAD_exome_OTH=0.1645;gnomAD_exome_SAS=0.2317;gnomAD_genome_ALL=0.1612;gnomAD_genome_AFR=0.1626;gnomAD_genome_AMR=0.1890;gnomAD_genome_ASJ=0.1126;gnomAD_genome_EAS=0.4255;gnomAD_genome_FIN=0.0822;gnomAD_genome_NFE=0.1514;gnomAD_genome_OTH=0.1415;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 1:132:0,72 1:94:0,32 . . . 1:104:0,44 . . . . 1:130:0,59 . 1:95:0,45 . 1:161:0,80 1:109:0,57 1:112:0,61 . . 1/1:93:0,93 1:142:0,73 . . . . . . 1:151:0,83 1:137:0,72 1:126:0,54 . . . . . 1/1:101:0,101 1:104:0,50 . . . 1:108:0,54 . 2 179579212 46776;rs2562838 T C 187.65 . #_unique_end_positions=,36;#_unique_start_positions=,36;AC=19;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6021;AF_ESP_clinvar_20171029_hg19=,0.3056;AF_EXAC_clinvar_20171029_hg19=,0.31966;AF_TGP_clinvar_20171029_hg19=,0.4834;ALLELEID_clinvar_20171029_hg19=,55941;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3934;AN=19;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.26;CAF_dbsnp_common_v150_hg19_refseq=,0.5166|0.4834;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179579212T>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:27212;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.25338A>G|_NM_001267550.2:c.26289A>G|_NM_003319.4:c.13282+23597A>G|_NM_133378.4:c.22557A>G|_NM_133432.3:c.13657+23597A>G|_NM_133437.4:c.13858+23597A>G;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.26289A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6587;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2237;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,38;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001627|intron_variant|SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179579212;RS_dbsnp_common_v150_hg19_refseq=,2562838;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,49;Read_coverage=,90;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9962820668599011;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,52;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4734;SF=0,1,5,10,12,14,15,16,17,19,20,27,28,29,35,36,40;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.593688|0.406312;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05032808030517053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.581633;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.181416;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.658537;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.694118;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.403409;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.569767;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.598837;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.555556;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.32;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.367133;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.227273;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.610619;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133378:exon88:c.A22557G:p.E7519E,TTN:NM_001256850:exon89:c.A25338G:p.E8446E,TTN:NM_001267550:exon91:c.A26289G:p.E8763E;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.3056;esp6500siv2_ea=0.2019;esp6500siv2_all=0.3056;esp6500siv2_ea=0.2019;1000g2015aug_all=0.483427;avsnp147=rs2562838;Kaviar_AF=0.307622;Kaviar_AC=47559;Kaviar_AN=154602;ExAC_ALL=0.3197;ExAC_AFR=0.5504;ExAC_AMR=0.4280;ExAC_EAS=0.6706;ExAC_FIN=0.2077;ExAC_NFE=0.2041;ExAC_OTH=0.2921;ExAC_SAS=0.4351;CLNALLELEID=55941;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0407;dpsi_zscore=-0.221;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3174;gnomAD_exome_AFR=0.5488;gnomAD_exome_AMR=0.4222;gnomAD_exome_ASJ=0.2012;gnomAD_exome_EAS=0.6683;gnomAD_exome_FIN=0.2039;gnomAD_exome_NFE=0.2031;gnomAD_exome_OTH=0.2704;gnomAD_exome_SAS=0.4305;gnomAD_genome_ALL=0.3269;gnomAD_genome_AFR=0.5400;gnomAD_genome_AMR=0.4093;gnomAD_genome_ASJ=0.2;gnomAD_genome_EAS=0.6507;gnomAD_genome_FIN=0.1931;gnomAD_genome_NFE=0.2030;gnomAD_genome_OTH=0.2495;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 1:81:0,45 1:68:0,26 . . . 1:60:0,23 . . . . 1:86:0,45 . 1:72:0,37 . 1:130:0,50 1:79:0,36 1:90:0,41 1:76:0,26 . 1/1:67:0,67 1:102:0,44 . . . . . . 1:94:0,41 1:98:0,44 1:93:0,40 . . . . . 1/1:84:0,83 1:72:0,32 . . . 1:81:0,39 . 2 179579822 46773;rs2562836 T A 197.62 . #_unique_end_positions=,33;#_unique_start_positions=,35;AC=19;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4644;AF_ESP_clinvar_20171029_hg19=,0.2643;AF_EXAC_clinvar_20171029_hg19=,0.30620;AF_TGP_clinvar_20171029_hg19=,0.4445;ALLELEID_clinvar_20171029_hg19=,55938;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3790;AN=19;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.4;CAF_dbsnp_common_v150_hg19_refseq=,0.5555|0.4445;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179579822T>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:27226;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.25140A>T|_NM_001267550.2:c.26091A>T|_NM_003319.4:c.13282+22987A>T|_NM_133378.4:c.22359A>T|_NM_133432.3:c.13657+22987A>T|_NM_133437.4:c.13858+22987A>T;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.26091A>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6577;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2237;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,58;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,A/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001627|intron_variant|SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179579822;RS_dbsnp_common_v150_hg19_refseq=,2562836;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,51;Read_coverage=,127;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.7329430011199612;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,69;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4714;SF=0,1,5,10,12,14,15,16,17,19,20,27,28,29,35,36,40;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.648877|0.351123;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05032808030517053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.141667;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.566667;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.636364;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.491667;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.031;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133378:exon87:c.A22359T:p.L7453L,TTN:NM_001256850:exon88:c.A25140T:p.L8380L,TTN:NM_001267550:exon90:c.A26091T:p.L8697L;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.2643;esp6500siv2_ea=0.2005;esp6500siv2_all=0.2643;esp6500siv2_ea=0.2005;1000g2015aug_all=0.444489;avsnp147=rs2562836;Kaviar_AF=0.290714;Kaviar_AC=44945;Kaviar_AN=154602;ExAC_ALL=0.3062;ExAC_AFR=0.4233;ExAC_AMR=0.4175;ExAC_EAS=0.6684;ExAC_FIN=0.2073;ExAC_NFE=0.2020;ExAC_OTH=0.2856;ExAC_SAS=0.4315;CLNALLELEID=55938;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.3993;dpsi_zscore=-0.983;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3079;gnomAD_exome_AFR=0.4251;gnomAD_exome_AMR=0.4155;gnomAD_exome_ASJ=0.2000;gnomAD_exome_EAS=0.6680;gnomAD_exome_FIN=0.2038;gnomAD_exome_NFE=0.2025;gnomAD_exome_OTH=0.2653;gnomAD_exome_SAS=0.4287;gnomAD_genome_ALL=0.2949;gnomAD_genome_AFR=0.4276;gnomAD_genome_AMR=0.3993;gnomAD_genome_ASJ=0.1987;gnomAD_genome_EAS=0.6520;gnomAD_genome_FIN=0.1931;gnomAD_genome_NFE=0.2030;gnomAD_genome_OTH=0.2469;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 1:110:0,43 1:122:0,68 . . . 1:109:0,63 . . . . 1:130:0,58 . 1:124:0,63 . 1:180:0,98 1:127:0,71 1:108:0,45 1:140:0,72 . 1/1:114:0,113 1:115:0,54 . . . . . . 1:137:0,64 1:143:0,69 1:143:0,71 . . . . . 1/1:107:0,107 1:97:0,53 . . . 1:121:0,56 . 2 179579977 46770;rs72648987 G A 200.00 . #_unique_end_positions=,48;#_unique_start_positions=,40;AC=2;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0173;AF_EXAC_clinvar_20171029_hg19=,0.01673;AF_TGP_clinvar_20171029_hg19=,0.0094;ALLELEID_clinvar_20171029_hg19=,55935;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0159;AN=2;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001254479.2:p.Arg8646Cys|_NP_001243779.1:p.Arg8329Cys|_NP_596869.4:p.Arg7402Cys;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Arg8646Cys;BaseQRankSum=,0.3;CAF_dbsnp_common_v150_hg19_refseq=,0.9906|0.009385;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1837342|OMIM:608807|Orphanet:ORPHA140922|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1858763|OMIM:604145|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy|_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179579977G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_conflicting_interpretations;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:54069;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.24985C>T|_NM_001267550.2:c.25936C>T|_NM_003319.4:c.13282+22832C>T|_NM_133378.4:c.22204C>T|_NM_133432.3:c.13657+22832C>T|_NM_133437.4:c.13858+22832C>T;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.25936C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0258;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,55;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant|SO:0001627|intron_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179579977;RS_dbsnp_common_v150_hg19_refseq=,72648987;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,65;Read_coverage=,138;Read_direction_test_probability=,0.9894862667356602;Read_position_test_probability=,0.8749841078560641;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,83;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0102;SF=13,22;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.988598|0.0114019;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050228080a05040436000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon87:c.C22204T:p.R7402C,TTN:NM_001256850:exon88:c.C24985T:p.R8329C,TTN:NM_001267550:exon90:c.C25936T:p.R8646C;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0173;esp6500siv2_ea=0.0223;esp6500siv2_all=0.0173;esp6500siv2_ea=0.0223;1000g2015aug_all=0.00938498;avsnp147=rs72648987;Kaviar_AF=0.0163905;Kaviar_AC=2534;Kaviar_AN=154602;ExAC_ALL=0.0167;ExAC_AFR=0.0039;ExAC_AMR=0.0135;ExAC_EAS=0.0001;ExAC_FIN=0.0241;ExAC_NFE=0.0207;ExAC_OTH=0.0227;ExAC_SAS=0.0158;CLNALLELEID=55935;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.175;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=1.125;MutationAssessor_pred=L;FATHMM_score=1.01;FATHMM_pred=T;PROVEAN_score=-3.05;PROVEAN_pred=D;VEST3_score=0.281;CADD_raw=3.568;CADD_phred=23.1;DANN_score=0.848;fathmm-MKL_coding_score=0.597;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.071;MetaSVM_pred=T;MetaLR_score=0.030;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=3.64;phyloP7way_vertebrate=-0.045;phyloP20way_mammalian=0.064;phastCons7way_vertebrate=0.977;phastCons20way_mammalian=0.527;SiPhy_29way_logOdds=8.459;GDI_full_10282015=.;dpsi_max_tissue=-0.9856;dpsi_zscore=-1.463;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0165;gnomAD_exome_AFR=0.0038;gnomAD_exome_AMR=0.0143;gnomAD_exome_ASJ=0.0129;gnomAD_exome_EAS=5.958e-05;gnomAD_exome_FIN=0.0211;gnomAD_exome_NFE=0.0211;gnomAD_exome_OTH=0.0194;gnomAD_exome_SAS=0.0146;gnomAD_genome_ALL=0.0165;gnomAD_genome_AFR=0.0041;gnomAD_genome_AMR=0.0048;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0190;gnomAD_genome_NFE=0.0256;gnomAD_genome_OTH=0.0163;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:DP:CLCAD2 . . . . . . . . . . . . . 1:130:0,64 . . . . . . . . 1:94:0,38 . . . . . . . . . . . . . . . . . . . 2 179582327 46756;rs13390491 C T 200.00 . #_unique_end_positions=,48;#_unique_start_positions=,38;AC=18;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1936;AF_ESP_clinvar_20171029_hg19=,0.1546;AF_EXAC_clinvar_20171029_hg19=,0.17836;AF_TGP_clinvar_20171029_hg19=,0.2438;ALLELEID_clinvar_20171029_hg19=,55921;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1830;AN=18;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_596869.4:p.Ser7181Asn|_NP_001254479.2:p.Ser8425Asn|_NP_001243779.1:p.Ser8108Asn;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Ser8425Asn;BaseQRankSum=,-0.69;CAF_dbsnp_common_v150_hg19_refseq=,0.7562|0.2438;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179582327C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:27248;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.24323G>A|_NM_001267550.2:c.25274G>A|_NM_003319.4:c.13282+20482G>A|_NM_133378.4:c.21542G>A|_NM_133432.3:c.13657+20482G>A|_NM_133437.4:c.13858+20482G>A;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.25274G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4355;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1571;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,87;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant|SO:0001627|intron_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179582327;RS_dbsnp_common_v150_hg19_refseq=,13390491;Read_count=,72;Read_coverage=,122;Read_direction_test_probability=,0.9485260581434374;Read_position_test_probability=,0.9817012669458618;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,35;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2464;SF=0,1,5,10,12,14,15,16,19,20,27,28,29,35,36,40;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.806271|0.193729;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050328080a0517053f000101;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.183673;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0916667;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.439024;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.452941;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.215909;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.366667;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.455556;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.194444;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.1;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.115385;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.193182;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.25;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon84:c.G21542A:p.S7181N,TTN:NM_001256850:exon85:c.G24323A:p.S8108N,TTN:NM_001267550:exon87:c.G25274A:p.S8425N;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.1546;esp6500siv2_ea=0.1508;esp6500siv2_all=0.1546;esp6500siv2_ea=0.1508;1000g2015aug_all=0.24381;avsnp147=rs13390491;Kaviar_AF=0.17503;Kaviar_AC=27060;Kaviar_AN=154602;ExAC_ALL=0.1784;ExAC_AFR=0.1661;ExAC_AMR=0.1756;ExAC_EAS=0.4264;ExAC_FIN=0.0929;ExAC_NFE=0.1461;ExAC_OTH=0.1553;ExAC_SAS=0.2257;CLNALLELEID=55921;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.257;SIFT_pred=T;Polyphen2_HDIV_score=0.154;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.041;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=1.89;MutationAssessor_pred=L;FATHMM_score=-0.36;FATHMM_pred=T;PROVEAN_score=-1.62;PROVEAN_pred=N;VEST3_score=0.096;CADD_raw=1.700;CADD_phred=14.41;DANN_score=0.866;fathmm-MKL_coding_score=0.511;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.994;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.51;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=0.992;SiPhy_29way_logOdds=10.360;GDI_full_10282015=.;dpsi_max_tissue=0.1482;dpsi_zscore=0.612;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1767;gnomAD_exome_AFR=0.1662;gnomAD_exome_AMR=0.1739;gnomAD_exome_ASJ=0.1220;gnomAD_exome_EAS=0.4284;gnomAD_exome_FIN=0.0946;gnomAD_exome_NFE=0.1496;gnomAD_exome_OTH=0.1620;gnomAD_exome_SAS=0.2218;gnomAD_genome_ALL=0.1614;gnomAD_genome_AFR=0.1646;gnomAD_genome_AMR=0.1897;gnomAD_genome_ASJ=0.1093;gnomAD_genome_EAS=0.4197;gnomAD_genome_FIN=0.0822;gnomAD_genome_NFE=0.1515;gnomAD_genome_OTH=0.1408;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 1:111:0,65 1:122:0,66 . . . 1:96:0,51 . . . . 1:145:0,64 . 1:116:0,57 . 1:150:0,76 1:118:0,52 1:125:0,72 . . 1/1:92:0,92 1:164:0,67 . . . . . . 1:152:0,63 1:186:0,95 1:144:0,72 . . . . . 1/1:136:0,136 1:115:0,54 . . . 1:142:0,69 . 2 179582537 46750;rs2627043 G T 200.00 . #_unique_end_positions=,50;#_unique_start_positions=,37;AC=19;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4637;AF_ESP_clinvar_20171029_hg19=,0.2658;AF_EXAC_clinvar_20171029_hg19=,0.30877;AF_TGP_clinvar_20171029_hg19=,0.4449;ALLELEID_clinvar_20171029_hg19=,55915;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3790;AN=19;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_596869.4:p.Ala7111Glu|_NP_001254479.2:p.Ala8355Glu|_NP_001243779.1:p.Ala8038Glu;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Ala8355Glu;BaseQRankSum=,0.03;CAF_dbsnp_common_v150_hg19_refseq=,0.5551|.|0.4449;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179582537G>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:27263;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.24113C>A|_NM_001267550.2:c.25064C>A|_NM_003319.4:c.13282+20272C>A|_NM_133378.4:c.21332C>A|_NM_133432.3:c.13657+20272C>A|_NM_133437.4:c.13858+20272C>A;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.25064C>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6577;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2247;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,43;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,G/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant|SO:0001627|intron_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179582537;RS_dbsnp_common_v150_hg19_refseq=,2627043;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,58;Read_coverage=,113;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9981838701989754;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,70;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4734;SF=0,1,5,10,12,14,15,16,17,19,20,27,28,29,35,36,40;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.650216|.|0.349784;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050328080a0517053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.469388;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.15;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.675;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.7;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.403409;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.566667;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.622222;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.426966;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.322917;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.326241;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.229885;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.491667;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon84:c.C21332A:p.A7111E,TTN:NM_001256850:exon85:c.C24113A:p.A8038E,TTN:NM_001267550:exon87:c.C25064A:p.A8355E;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.2658;esp6500siv2_ea=0.2018;esp6500siv2_all=0.2658;esp6500siv2_ea=0.2018;1000g2015aug_all=0.444888;avsnp147=rs2627043;Kaviar_AF=0.294537;Kaviar_AC=45536;Kaviar_AN=154602;ExAC_ALL=0.3088;ExAC_AFR=0.4248;ExAC_AMR=0.4185;ExAC_EAS=0.6658;ExAC_FIN=0.2059;ExAC_NFE=0.2037;ExAC_OTH=0.2867;ExAC_SAS=0.4484;CLNALLELEID=55915;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=0.991;MutationTaster_pred=P;MutationAssessor_score=-1.045;MutationAssessor_pred=N;FATHMM_score=1.14;FATHMM_pred=T;PROVEAN_score=2.66;PROVEAN_pred=N;VEST3_score=0.255;CADD_raw=2.566;CADD_phred=19.89;DANN_score=0.865;fathmm-MKL_coding_score=0.079;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.990;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.500;integrated_confidence_value=0;GERP++_RS=5.87;phyloP7way_vertebrate=0.086;phyloP20way_mammalian=0.152;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=0.999;SiPhy_29way_logOdds=13.684;GDI_full_10282015=.;dpsi_max_tissue=0.2661;dpsi_zscore=0.839;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3076;gnomAD_exome_AFR=0.4232;gnomAD_exome_AMR=0.4137;gnomAD_exome_ASJ=0.2015;gnomAD_exome_EAS=0.6659;gnomAD_exome_FIN=0.2022;gnomAD_exome_NFE=0.2023;gnomAD_exome_OTH=0.2657;gnomAD_exome_SAS=0.4307;gnomAD_genome_ALL=0.2945;gnomAD_genome_AFR=0.4276;gnomAD_genome_AMR=0.4021;gnomAD_genome_ASJ=0.1987;gnomAD_genome_EAS=0.6465;gnomAD_genome_FIN=0.1914;gnomAD_genome_NFE=0.2029;gnomAD_genome_OTH=0.2459;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 1:107:0,58 1:111:0,59 . . . 1:90:0,49 . . . . 1:154:0,74 . 1:124:0,70 . 1:176:0,75 1:112:0,52 1:126:0,61 1:134:0,60 . 1/1:96:0,91 1:147:0,63 . . . . . . 1:143:0,83 1:175:0,79 1:122:0,59 . . . . . 1/1:154:0,154 1:114:0,50 . . . 1:128:0,57 . 2 179582824 46743;rs72648983 C T 200.00 . #_unique_end_positions=,42;#_unique_start_positions=,36;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0537;AF_ESP_clinvar_20171029_hg19=,0.0162;AF_EXAC_clinvar_20171029_hg19=,0.01366;AF_TGP_clinvar_20171029_hg19=,0.0236;ALLELEID_clinvar_20171029_hg19=,55908;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0130;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.37;CAF_dbsnp_common_v150_hg19_refseq=,0.9764|0.02356;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1837342|OMIM:608807|Orphanet:ORPHA140922|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1858763|OMIM:604145|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy|_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179582824C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:27289;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.23958G>A|_NM_001267550.2:c.24909G>A|_NM_003319.4:c.13282+19985G>A|_NM_133378.4:c.21177G>A|_NM_133432.3:c.13657+19985G>A|_NM_133437.4:c.13858+19985G>A;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.24909G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0109;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0119;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,67;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001627|intron_variant|SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179582824;RS_dbsnp_common_v150_hg19_refseq=,72648983;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,65;Read_coverage=,135;Read_direction_test_probability=,0.9524531744123013;Read_position_test_probability=,0.8927700500717706;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,68;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0153;SF=12;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.978879|0.021121;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050328080305150436000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.999;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133378:exon83:c.G21177A:p.K7059K,TTN:NM_001256850:exon84:c.G23958A:p.K7986K,TTN:NM_001267550:exon86:c.G24909A:p.K8303K;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0162;esp6500siv2_ea=0.0069;esp6500siv2_all=0.0162;esp6500siv2_ea=0.0069;1000g2015aug_all=0.0235623;avsnp147=rs72648983;Kaviar_AF=0.0129623;Kaviar_AC=2004;Kaviar_AN=154602;ExAC_ALL=0.0137;ExAC_AFR=0.0385;ExAC_AMR=0.0074;ExAC_EAS=0.0058;ExAC_FIN=0.0165;ExAC_NFE=0.0109;ExAC_OTH=0.0111;ExAC_SAS=0.0176;CLNALLELEID=55908;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.4137;dpsi_zscore=-0.999;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0130;gnomAD_exome_AFR=0.0384;gnomAD_exome_AMR=0.0092;gnomAD_exome_ASJ=0.0081;gnomAD_exome_EAS=0.0064;gnomAD_exome_FIN=0.0183;gnomAD_exome_NFE=0.0099;gnomAD_exome_OTH=0.0101;gnomAD_exome_SAS=0.0174;gnomAD_genome_ALL=0.0171;gnomAD_genome_AFR=0.0379;gnomAD_genome_AMR=0.0095;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0.0069;gnomAD_genome_FIN=0.0149;gnomAD_genome_NFE=0.0077;gnomAD_genome_OTH=0.0102;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 . . . . . . . . . . . . 1:128:0,62 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2 179582853 46742;rs72648982 T C 200.00 . #_unique_end_positions=,39;#_unique_start_positions=,33;AC=6;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0023;AF_ESP_clinvar_20171029_hg19=,0.0230;AF_EXAC_clinvar_20171029_hg19=,0.02105;AF_TGP_clinvar_20171029_hg19=,0.0122;ALLELEID_clinvar_20171029_hg19=,55907;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0130;AN=6;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001243779.1:p.Arg7977Gly|_NP_001254479.2:p.Arg8294Gly|_NP_596869.4:p.Arg7050Gly;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Arg8294Gly;BaseQRankSum=,-0.24;CAF_dbsnp_common_v150_hg19_refseq=,0.9878|0.01218;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1837342|OMIM:608807|Orphanet:ORPHA140922|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1858763|OMIM:604145|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy|_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179582853T>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:27301;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.23929A>G|_NM_001267550.2:c.24880A>G|_NM_003319.4:c.13282+19956A>G|_NM_133378.4:c.21148A>G|_NM_133432.3:c.13657+19956A>G|_NM_133437.4:c.13858+19956A>G;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.24880A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0278;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,58;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant|SO:0001627|intron_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179582853;RS_dbsnp_common_v150_hg19_refseq=,72648982;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,57;Read_coverage=,123;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9998440008908441;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,65;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0204;SF=4,8,18,23,29,38;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.980905|0.0190947;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050328080a05140436000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.992;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon83:c.A21148G:p.R7050G,TTN:NM_001256850:exon84:c.A23929G:p.R7977G,TTN:NM_001267550:exon86:c.A24880G:p.R8294G;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0230;esp6500siv2_ea=0.0308;esp6500siv2_all=0.0230;esp6500siv2_ea=0.0308;1000g2015aug_all=0.0121805;avsnp147=rs72648982;Kaviar_AF=0.0214616;Kaviar_AC=3318;Kaviar_AN=154602;ExAC_ALL=0.0210;ExAC_AFR=0.0058;ExAC_AMR=0.0088;ExAC_EAS=0;ExAC_FIN=0.0130;ExAC_NFE=0.0297;ExAC_OTH=0.0325;ExAC_SAS=0.0171;CLNALLELEID=55907;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.075;SIFT_pred=T;Polyphen2_HDIV_score=0.153;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.053;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=2.14;MutationAssessor_pred=M;FATHMM_score=-0.27;FATHMM_pred=T;PROVEAN_score=-3.53;PROVEAN_pred=D;VEST3_score=0.36;CADD_raw=1.513;CADD_phred=13.38;DANN_score=0.893;fathmm-MKL_coding_score=0.340;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.759;MetaSVM_pred=T;MetaLR_score=0.121;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=4.99;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=1.061;phastCons7way_vertebrate=0.993;phastCons20way_mammalian=0.993;SiPhy_29way_logOdds=13.612;GDI_full_10282015=.;dpsi_max_tissue=1.4069;dpsi_zscore=1.736;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0221;gnomAD_exome_AFR=0.0057;gnomAD_exome_AMR=0.0109;gnomAD_exome_ASJ=0.0511;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0196;gnomAD_exome_NFE=0.0299;gnomAD_exome_OTH=0.0298;gnomAD_exome_SAS=0.0176;gnomAD_genome_ALL=0.0184;gnomAD_genome_AFR=0.0066;gnomAD_genome_AMR=0.0215;gnomAD_genome_ASJ=0.0695;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0160;gnomAD_genome_NFE=0.0260;gnomAD_genome_OTH=0.0255;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 . . . . 1:112:0,51 . . . 1:129:0,67 . . . . . . . . . 1:97:0,48 . . . . 1:117:0,57 . . . . . 1:142:0,70 . . . . . . . . 1:85:0,35 . . . 2 179583317 46734;rs72648978 G A 200.00 . #_unique_end_positions=,33;#_unique_start_positions=,29;AC=5;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0802;AF_ESP_clinvar_20171029_hg19=,0.0981;AF_EXAC_clinvar_20171029_hg19=,0.08972;AF_TGP_clinvar_20171029_hg19=,0.0735;ALLELEID_clinvar_20171029_hg19=,55899;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0692;AN=5;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.9265|0.07348;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179583317G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:26920;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.23565C>T|_NM_001267550.2:c.24516C>T|_NM_003319.4:c.13282+19492C>T|_NM_133378.4:c.20784C>T|_NM_133432.3:c.13657+19492C>T|_NM_133437.4:c.13858+19492C>T;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.24516C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0198;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0944;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,53;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001627|intron_variant|SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179583317;RS_dbsnp_common_v150_hg19_refseq=,72648978;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,46;Read_coverage=,113;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.45230754309808485;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,60;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1012;SF=8,15,18,37,39;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.917645|0.0823546;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050328080305150436000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.996;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133378:exon82:c.C20784T:p.T6928T,TTN:NM_001256850:exon83:c.C23565T:p.T7855T,TTN:NM_001267550:exon85:c.C24516T:p.T8172T;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0981;esp6500siv2_ea=0.1101;esp6500siv2_all=0.0981;esp6500siv2_ea=0.1101;1000g2015aug_all=0.0734824;avsnp147=rs72648978;Kaviar_AF=0.0885305;Kaviar_AC=13687;Kaviar_AN=154602;ExAC_ALL=0.0897;ExAC_AFR=0.0773;ExAC_AMR=0.0425;ExAC_EAS=0.0210;ExAC_FIN=0.0924;ExAC_NFE=0.1051;ExAC_OTH=0.0890;ExAC_SAS=0.1033;CLNALLELEID=55899;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0720;dpsi_zscore=0.389;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0881;gnomAD_exome_AFR=0.0757;gnomAD_exome_AMR=0.0443;gnomAD_exome_ASJ=0.0665;gnomAD_exome_EAS=0.0206;gnomAD_exome_FIN=0.0987;gnomAD_exome_NFE=0.1091;gnomAD_exome_OTH=0.0882;gnomAD_exome_SAS=0.1030;gnomAD_genome_ALL=0.0931;gnomAD_genome_AFR=0.0791;gnomAD_genome_AMR=0.0370;gnomAD_genome_ASJ=0.0563;gnomAD_genome_EAS=0.0225;gnomAD_genome_FIN=0.0972;gnomAD_genome_NFE=0.1114;gnomAD_genome_OTH=0.0967;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 . . . . . . . . 1:110:0,45 . . . . . . 1:150:0,73 . . 1:106:0,45 . . . . . . . . . . . . . . . . . . 1:94:0,46 . 1:129:0,60 . . 2 179583496 46731;rs16866465 T G 200.00 . #_unique_end_positions=,48;#_unique_start_positions=,44;AC=18;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1732;AF_ESP_clinvar_20171029_hg19=,0.1507;AF_EXAC_clinvar_20171029_hg19=,0.17663;AF_TGP_clinvar_20171029_hg19=,0.2388;ALLELEID_clinvar_20171029_hg19=,55896;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1830;AN=18;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001254479.2:p.Glu8144Ala|_NP_001243779.1:p.Glu7827Ala|_NP_596869.4:p.Glu6900Ala;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Glu8144Ala;BaseQRankSum=,0.65;CAF_dbsnp_common_v150_hg19_refseq=,0.7612|.|0.2388;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179583496T>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:27272;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.23480A>C|_NM_001267550.2:c.24431A>C|_NM_003319.4:c.13282+19313A>C|_NM_133378.4:c.20699A>C|_NM_133432.3:c.13657+19313A>C|_NM_133437.4:c.13858+19313A>C;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.24431A>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4375;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1571;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,79;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,G/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant|SO:0001627|intron_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179583496;RS_dbsnp_common_v150_hg19_refseq=,16866465;Read_count=,88;Read_coverage=,181;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9658383068269624;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,102;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2464;SF=0,1,5,10,12,14,15,16,19,20,27,28,29,35,36,40;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.811766|.|0.188234;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050328080a0515053f000101;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.173469;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.132743;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.439024;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.452941;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.215909;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.360465;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.406977;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.161111;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.09;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.116197;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.193182;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.190265;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.49;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon81:c.A20699C:p.E6900A,TTN:NM_001256850:exon82:c.A23480C:p.E7827A,TTN:NM_001267550:exon84:c.A24431C:p.E8144A;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.1506;esp6500siv2_ea=0.1517;esp6500siv2_all=0.1506;esp6500siv2_ea=0.1517;1000g2015aug_all=0.238818;avsnp147=rs16866465;Kaviar_AF=0.174739;Kaviar_AC=27015;Kaviar_AN=154602;ExAC_ALL=0.1766;ExAC_AFR=0.1502;ExAC_AMR=0.1737;ExAC_EAS=0.4271;ExAC_FIN=0.0941;ExAC_NFE=0.1454;ExAC_OTH=0.1559;ExAC_SAS=0.2245;CLNALLELEID=55896;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.023;SIFT_pred=D;Polyphen2_HDIV_score=0.003;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.014;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.984;MutationTaster_pred=P;MutationAssessor_score=0.805;MutationAssessor_pred=L;FATHMM_score=-0.29;FATHMM_pred=T;PROVEAN_score=-2.37;PROVEAN_pred=N;VEST3_score=0.134;CADD_raw=0.820;CADD_phred=9.586;DANN_score=0.746;fathmm-MKL_coding_score=0.990;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.001;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=6.01;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=1.061;phastCons7way_vertebrate=0.496;phastCons20way_mammalian=0.158;SiPhy_29way_logOdds=16.529;GDI_full_10282015=.;dpsi_max_tissue=-0.1164;dpsi_zscore=-0.497;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1765;gnomAD_exome_AFR=0.1532;gnomAD_exome_AMR=0.1742;gnomAD_exome_ASJ=0.1228;gnomAD_exome_EAS=0.4296;gnomAD_exome_FIN=0.0951;gnomAD_exome_NFE=0.1501;gnomAD_exome_OTH=0.1616;gnomAD_exome_SAS=0.2225;gnomAD_genome_ALL=0.1586;gnomAD_genome_AFR=0.1535;gnomAD_genome_AMR=0.1902;gnomAD_genome_ASJ=0.1093;gnomAD_genome_EAS=0.4218;gnomAD_genome_FIN=0.0821;gnomAD_genome_NFE=0.1519;gnomAD_genome_OTH=0.1417;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 1:164:0,79 1:132:0,67 . . . 1:129:0,68 . . . . 1:173:0,86 . 1:144:0,76 . 1:174:0,94 1:147:0,86 1:144:0,60 . . 1/1:165:0,163 1:148:0,72 . . . . . . 1:162:0,93 1:198:0,85 1:177:0,88 . . . . . 1/1:152:0,152 1:123:0,63 . . . 1:187:0,96 . 2 179585257 46715;rs72648972 G C 129.34 . #_unique_end_positions=,22;#_unique_start_positions=,18;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0008;AF_ESP_clinvar_20171029_hg19=,0.0015;AF_EXAC_clinvar_20171029_hg19=,0.00436;AF_TGP_clinvar_20171029_hg19=,0.0050;ALLELEID_clinvar_20171029_hg19=,55880;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0043;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001243779.1:p.Asn7427Lys|_NP_001254479.2:p.Asn7744Lys|_NP_596869.4:p.Asn6500Lys;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Asn7744Lys;BaseQRankSum=,0.04;CAF_dbsnp_common_v150_hg19_refseq=,0.995|0.004992;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1837342|OMIM:608807|Orphanet:ORPHA140922|MedGen:C1858763|OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNDN_clinvar_20171029_hg19=,Limb-girdle_muscular_dystrophy|_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179585257G>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.22281C>G|_NM_001267550.2:c.23232C>G|_NM_003319.4:c.13282+17552C>G|_NM_133378.4:c.19500C>G|_NM_133432.3:c.13657+17552C>G|_NM_133437.4:c.13858+17552C>G;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.23232C>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0040;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,34;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,C/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant|SO:0001627|intron_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,129.34228487543297;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179585257;RS_dbsnp_common_v150_hg19_refseq=,72648972;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,25;Read_coverage=,67;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.6836672728942316;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,33;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0174;SF=41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.998249|0.00175149;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050328080a05040436000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon77:c.C19500G:p.N6500K,TTN:NM_001256850:exon78:c.C22281G:p.N7427K,TTN:NM_001267550:exon80:c.C23232G:p.N7744K;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0015;esp6500siv2_ea=0.0021;esp6500siv2_all=0.0015;esp6500siv2_ea=0.0021;1000g2015aug_all=0.00499201;avsnp147=rs72648972;Kaviar_AF=0.0038809;Kaviar_AC=600;Kaviar_AN=154602;ExAC_ALL=0.0044;ExAC_AFR=0.0006;ExAC_AMR=0.0017;ExAC_EAS=0.0006;ExAC_FIN=0.0006;ExAC_NFE=0.0025;ExAC_OTH=0.0056;ExAC_SAS=0.0193;CLNALLELEID=55880;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.654;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=1.19;MutationAssessor_pred=L;FATHMM_score=-0.19;FATHMM_pred=T;PROVEAN_score=-1.1;PROVEAN_pred=N;VEST3_score=0.066;CADD_raw=1.967;CADD_phred=16.00;DANN_score=0.980;fathmm-MKL_coding_score=0.909;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.872;MetaSVM_pred=T;MetaLR_score=0.169;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=4.88;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.995;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=10.796;GDI_full_10282015=.;dpsi_max_tissue=-0.2403;dpsi_zscore=-0.759;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0041;gnomAD_exome_AFR=0.0007;gnomAD_exome_AMR=0.0012;gnomAD_exome_ASJ=0.0096;gnomAD_exome_EAS=0.0009;gnomAD_exome_FIN=0.0002;gnomAD_exome_NFE=0.0021;gnomAD_exome_OTH=0.0040;gnomAD_exome_SAS=0.0190;gnomAD_genome_ALL=0.0012;gnomAD_genome_AFR=0.0010;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0016;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-4 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:63:0,23 2 179585266 46714;rs2562831 C T 185.73 . #_unique_end_positions=,49;#_unique_start_positions=,42;AC=84;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9349;ALLELEID_clinvar_20171029_hg19=,55879;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9942;AN=84;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;CAF_dbsnp_common_v150_hg19_refseq=,0.01797|0.982;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179585266C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:26937;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.22272G>A|_NM_001267550.2:c.23223G>A|_NM_003319.4:c.13282+17543G>A|_NM_133378.4:c.19491G>A|_NM_133432.3:c.13657+17543G>A|_NM_133437.4:c.13858+17543G>A;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.23223G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,1.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,1.0000;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,28;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,T/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001627|intron_variant|SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179585266;RS_dbsnp_common_v150_hg19_refseq=,2562831;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,86;Read_coverage=,86;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,58;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,1.0000;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.024727|0.975273;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05032808030515053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.959184;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,1;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,1;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.977778;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.961111;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.924107;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133378:exon77:c.G19491A:p.Q6497Q,TTN:NM_001256850:exon78:c.G22272A:p.Q7424Q,TTN:NM_001267550:exon80:c.G23223A:p.Q7741Q;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.9814;esp6500siv2_ea=0.9999;esp6500siv2_all=0.9814;esp6500siv2_ea=0.9999;1000g2015aug_all=0.982029;avsnp147=rs2562831;Kaviar_AF=0.943694;Kaviar_AC=145897;Kaviar_AN=154602;ExAC_ALL=0.9950;ExAC_AFR=0.9435;ExAC_AMR=0.9973;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9997;ExAC_OTH=0.9989;ExAC_SAS=0.9999;CLNALLELEID=55879;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.7163;dpsi_zscore=1.325;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.9958;gnomAD_exome_AFR=0.9430;gnomAD_exome_AMR=0.9969;gnomAD_exome_ASJ=1;gnomAD_exome_EAS=1;gnomAD_exome_FIN=1;gnomAD_exome_NFE=0.9996;gnomAD_exome_OTH=0.9982;gnomAD_exome_SAS=0.9999;gnomAD_genome_ALL=0.9841;gnomAD_genome_AFR=0.9447;gnomAD_genome_AMR=0.9940;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=1;gnomAD_genome_FIN=1;gnomAD_genome_NFE=0.9999;gnomAD_genome_OTH=0.9980;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 1/1:76:0,76 1/1:68:0,68 1/1:51:0,51 1/1:69:0,69 1/1:38:0,38 1/1:71:0,71 1/1:46:0,46 1/1:64:0,64 1/1:80:0,80 1/1:68:0,68 1/1:61:0,61 1/1:66:0,66 1/1:74:0,74 1/1:75:0,75 1/1:107:0,107 1/1:54:0,54 1/1:66:0,66 1/1:62:0,62 1/1:69:0,69 1/1:54:0,54 1/1:77:0,77 1/1:81:0,81 1/1:56:0,56 1/1:56:0,56 1/1:75:0,75 1/1:47:0,47 1/1:51:0,51 1/1:83:0,83 1/1:89:0,89 1/1:74:0,74 1/1:68:0,68 1/1:58:0,58 1/1:61:0,61 1/1:47:0,47 1/1:95:0,95 1/1:57:0,57 1/1:43:0,43 1/1:52:0,52 1/1:60:0,60 1/1:74:0,74 1/1:72:0,72 1/1:58:0,58 2 179586756 46703;rs72648969 C T 200.00 . #_unique_end_positions=,34;#_unique_start_positions=,32;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0030;AF_EXAC_clinvar_20171029_hg19=,0.00203;AF_TGP_clinvar_20171029_hg19=,0.0002;ALLELEID_clinvar_20171029_hg19=,55868;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AN=1;Amino_acid_change=,NP_001254479.2:p.Arg7545Gln|_NP_596869.4:p.Arg6301Gln|_NP_001243779.1:p.Arg7228Gln;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Arg7545Gln;BaseQRankSum=,0.0;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1837342|OMIM:608807|Orphanet:ORPHA140922|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1858763|OMIM:604145|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy|_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179586756C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_conflicting_interpretations;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:143742;Coding_region_change=,NM_001256850.1:c.21683G>A|_NM_001267550.2:c.22634G>A|_NM_003319.4:c.13282+16053G>A|_NM_133378.4:c.18902G>A|_NM_133432.3:c.13657+16053G>A|_NM_133437.4:c.13858+16053G>A;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.22634G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;Exact_match=,clinvar_20171029_hg19|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,51;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8985|rna8986|rna8987;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant|SO:0001627|intron_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;Read_count=,42;Read_coverage=,97;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9750888616821846;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,46;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=19;conservation_score=,1.0;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon75:c.G18902A:p.R6301Q,TTN:NM_001256850:exon76:c.G21683A:p.R7228Q,TTN:NM_001267550:exon78:c.G22634A:p.R7545Q;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0030;esp6500siv2_ea=0.0040;esp6500siv2_all=0.0030;esp6500siv2_ea=0.0040;1000g2015aug_all=0.000199681;avsnp147=rs72648969;Kaviar_AF=0.0018952;Kaviar_AC=293;Kaviar_AN=154602;ExAC_ALL=0.0020;ExAC_AFR=0.0012;ExAC_AMR=0.0006;ExAC_EAS=0;ExAC_FIN=0.0005;ExAC_NFE=0.0030;ExAC_OTH=0.0056;ExAC_SAS=0.0009;CLNALLELEID=55868;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.389;SIFT_pred=T;Polyphen2_HDIV_score=0.91;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.203;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=0.46;MutationAssessor_pred=N;FATHMM_score=-0.18;FATHMM_pred=T;PROVEAN_score=-1.56;PROVEAN_pred=N;VEST3_score=0.515;CADD_raw=3.020;CADD_phred=22.3;DANN_score=0.973;fathmm-MKL_coding_score=0.118;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.917;MetaSVM_pred=T;MetaLR_score=0.112;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=6.16;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.996;phastCons20way_mammalian=0.992;SiPhy_29way_logOdds=8.324;GDI_full_10282015=.;dpsi_max_tissue=-0.5957;dpsi_zscore=-1.182;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0022;gnomAD_exome_AFR=0.0010;gnomAD_exome_AMR=0.0005;gnomAD_exome_ASJ=0.0146;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0004;gnomAD_exome_NFE=0.0027;gnomAD_exome_OTH=0.0033;gnomAD_exome_SAS=0.0009;gnomAD_genome_ALL=0.0021;gnomAD_genome_AFR=0.0006;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0.0166;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0006;gnomAD_genome_NFE=0.0032;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . 1:91:0,39 . . . . . . . . . . . . . . . . . . . . . . 2 179587130 46698;rs12693166 C G 193.90 . #_unique_end_positions=,38;#_unique_start_positions=,28;AC=18;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2020;AF_ESP_clinvar_20171029_hg19=,0.1572;AF_EXAC_clinvar_20171029_hg19=,0.17861;AF_TGP_clinvar_20171029_hg19=,0.2470;ALLELEID_clinvar_20171029_hg19=,55863;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1844;AN=18;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001254479.2:p.Asp7462His|_NP_596869.4:p.Asp6218His|_NP_001243779.1:p.Asp7145His;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Asp7462His;BaseQRankSum=,-0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.753|0.247|.;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179587130C>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:27318;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.21433G>C|_NM_001267550.2:c.22384G>C|_NM_003319.4:c.13282+15679G>C|_NM_133378.4:c.18652G>C|_NM_133432.3:c.13657+15679G>C|_NM_133437.4:c.13858+15679G>C;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.22384G>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4375;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1581;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,44;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,C/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant|SO:0001627|intron_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179587130;RS_dbsnp_common_v150_hg19_refseq=,12693166;Read_count=,52;Read_coverage=,109;Read_direction_test_probability=,0.9754558436507311;Read_position_test_probability=,0.8785258570240875;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,65;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2474;SF=0,1,5,10,12,14,15,16,19,20,27,28,29,35,36,40;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.804004|0.195996|.;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050328080a0515053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.173469;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0916667;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.439024;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.452941;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.215909;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.366667;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.455556;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.194444;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.11;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.115385;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.198864;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.266667;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon74:c.G18652C:p.D6218H,TTN:NM_001256850:exon75:c.G21433C:p.D7145H,TTN:NM_001267550:exon77:c.G22384C:p.D7462H;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.1572;esp6500siv2_ea=0.1523;esp6500siv2_all=0.1572;esp6500siv2_ea=0.1523;1000g2015aug_all=0.247005;avsnp147=rs12693166;Kaviar_AF=0.176026;Kaviar_AC=27214;Kaviar_AN=154602;ExAC_ALL=0.1786;ExAC_AFR=0.1701;ExAC_AMR=0.1750;ExAC_EAS=0.4270;ExAC_FIN=0.0940;ExAC_NFE=0.1457;ExAC_OTH=0.1559;ExAC_SAS=0.2249;CLNALLELEID=55863;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.119;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.995;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=0.002;MutationTaster_pred=P;MutationAssessor_score=2.33;MutationAssessor_pred=M;FATHMM_score=-0.79;FATHMM_pred=T;PROVEAN_score=-3.39;PROVEAN_pred=D;VEST3_score=0.263;CADD_raw=2.840;CADD_phred=21.6;DANN_score=0.908;fathmm-MKL_coding_score=0.995;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.081;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=6.16;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.996;phastCons20way_mammalian=0.994;SiPhy_29way_logOdds=20.860;GDI_full_10282015=.;dpsi_max_tissue=-1.0326;dpsi_zscore=-1.489;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1777;gnomAD_exome_AFR=0.1722;gnomAD_exome_AMR=0.1748;gnomAD_exome_ASJ=0.1230;gnomAD_exome_EAS=0.4295;gnomAD_exome_FIN=0.0950;gnomAD_exome_NFE=0.1500;gnomAD_exome_OTH=0.1615;gnomAD_exome_SAS=0.2224;gnomAD_genome_ALL=0.1637;gnomAD_genome_AFR=0.1711;gnomAD_genome_AMR=0.1897;gnomAD_genome_ASJ=0.1093;gnomAD_genome_EAS=0.4246;gnomAD_genome_FIN=0.0820;gnomAD_genome_NFE=0.1519;gnomAD_genome_OTH=0.1418;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 1:97:0,48 1:92:0,37 . . . 1:76:0,44 . . . . 1:102:0,50 . 1:91:0,27 . 1:151:0,62 1:119:0,53 1:86:0,39 . . 1/1:83:0,83 1:131:0,60 . . . . . . 1:111:0,52 1:109:0,57 1:102:0,50 . . . . . 1/1:65:0,65 1:86:0,38 . . . 1:87:0,49 . 2 179587546 46695;rs16866473 A G 200.00 . #_unique_end_positions=,41;#_unique_start_positions=,39;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0885;AF_ESP_clinvar_20171029_hg19=,0.0434;AF_EXAC_clinvar_20171029_hg19=,0.07060;AF_TGP_clinvar_20171029_hg19=,0.0941;ALLELEID_clinvar_20171029_hg19=,55860;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1527;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.15;CAF_dbsnp_common_v150_hg19_refseq=,0.906|0.09405;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179587546A>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:88032;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.21129T>C|_NM_001267550.2:c.22080T>C|_NM_003319.4:c.13282+15263T>C|_NM_133378.4:c.18348T>C|_NM_133432.3:c.13657+15263T>C|_NM_133437.4:c.13858+15263T>C;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.22080T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0258;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0358;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,74;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001627|intron_variant|SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179587546;RS_dbsnp_common_v150_hg19_refseq=,16866473;Read_count=,64;Read_coverage=,129;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9891648198865975;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,55;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1902;SF=17;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.937633|0.0623669;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050328080305150537000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0254237;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0508475;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.995;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133378:exon73:c.T18348C:p.D6116D,TTN:NM_001256850:exon74:c.T21129C:p.D7043D,TTN:NM_001267550:exon76:c.T22080C:p.D7360D;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0434;esp6500siv2_ea=0.0242;esp6500siv2_all=0.0434;esp6500siv2_ea=0.0242;1000g2015aug_all=0.0940495;avsnp147=rs16866473;Kaviar_AF=0.0664222;Kaviar_AC=10269;Kaviar_AN=154602;ExAC_ALL=0.0706;ExAC_AFR=0.0921;ExAC_AMR=0.1918;ExAC_EAS=0.0279;ExAC_FIN=0.0588;ExAC_NFE=0.0270;ExAC_OTH=0.0814;ExAC_SAS=0.1758;CLNALLELEID=55860;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0689;dpsi_zscore=-0.344;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0751;gnomAD_exome_AFR=0.0895;gnomAD_exome_AMR=0.1896;gnomAD_exome_ASJ=0.0285;gnomAD_exome_EAS=0.0281;gnomAD_exome_FIN=0.0576;gnomAD_exome_NFE=0.0264;gnomAD_exome_OTH=0.0618;gnomAD_exome_SAS=0.1758;gnomAD_genome_ALL=0.0512;gnomAD_genome_AFR=0.0877;gnomAD_genome_AMR=0.1651;gnomAD_genome_ASJ=0.0265;gnomAD_genome_EAS=0.0333;gnomAD_genome_FIN=0.0533;gnomAD_genome_NFE=0.0253;gnomAD_genome_OTH=0.0550;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . 1:124:0,62 . . . . . . . . . . . . . . . . . . . . . . . . 2 179587552 46693;rs34562585 T C 200.00 . #_unique_end_positions=,40;#_unique_start_positions=,31;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0090;AF_EXAC_clinvar_20171029_hg19=,0.00707;AF_TGP_clinvar_20171029_hg19=,0.0028;ALLELEID_clinvar_20171029_hg19=,55858;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.17;CAF_dbsnp_common_v150_hg19_refseq=,0.9972|0.002796;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1837342|OMIM:608807|Orphanet:ORPHA140922|MedGen:C1858763|OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNDN_clinvar_20171029_hg19=,Limb-girdle_muscular_dystrophy|_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179587552T>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.21123A>G|_NM_001267550.2:c.22074A>G|_NM_003319.4:c.13282+15257A>G|_NM_133378.4:c.18342A>G|_NM_133432.3:c.13657+15257A>G|_NM_133437.4:c.13858+15257A>G;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.22074A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0129;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,82;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001627|intron_variant|SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179587552;RS_dbsnp_common_v150_hg19_refseq=,34562585;Read_count=,59;Read_coverage=,124;Read_direction_test_probability=,0.5408420668419626;Read_position_test_probability=,0.4545818394091906;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,42;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;SF=7;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.994402|0.00559791;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050328080305040536000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133378:exon73:c.A18342G:p.K6114K,TTN:NM_001256850:exon74:c.A21123G:p.K7041K,TTN:NM_001267550:exon76:c.A22074G:p.K7358K;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0090;esp6500siv2_ea=0.0118;esp6500siv2_all=0.0090;esp6500siv2_ea=0.0118;1000g2015aug_all=0.00279553;avsnp147=rs34562585;Kaviar_AF=0.0074126;Kaviar_AC=1146;Kaviar_AN=154602;ExAC_ALL=0.0071;ExAC_AFR=0.0022;ExAC_AMR=0.0020;ExAC_EAS=0;ExAC_FIN=0.0038;ExAC_NFE=0.0116;ExAC_OTH=0.0023;ExAC_SAS=0.0005;CLNALLELEID=55858;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.2900;dpsi_zscore=-0.838;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0065;gnomAD_exome_AFR=0.0026;gnomAD_exome_AMR=0.0032;gnomAD_exome_ASJ=0.0038;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0028;gnomAD_exome_NFE=0.0118;gnomAD_exome_OTH=0.0052;gnomAD_exome_SAS=0.0006;gnomAD_genome_ALL=0.0056;gnomAD_genome_AFR=0.0025;gnomAD_genome_AMR=0.0060;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0020;gnomAD_genome_NFE=0.0089;gnomAD_genome_OTH=0.0031;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-10 GT:DP:CLCAD2 . . . . . . . 1:115:0,55 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2 179589058 46680;rs72648960 G A 200.00 . #_unique_end_positions=,39;#_unique_start_positions=,41;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0008;AF_ESP_clinvar_20171029_hg19=,0.0027;AF_EXAC_clinvar_20171029_hg19=,0.01645;AF_TGP_clinvar_20171029_hg19=,0.0357;ALLELEID_clinvar_20171029_hg19=,55845;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0058;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001243779.1:p.Ala6698Val|_NP_596869.4:p.Ala5771Val|_NP_001254479.2:p.Ala7015Val;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Ala7015Val;BaseQRankSum=,-0.17;CAF_dbsnp_common_v150_hg19_refseq=,0.9643|0.03574;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1837342|OMIM:608807|Orphanet:ORPHA140922|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1858763|OMIM:604145|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy|_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179589058G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:102570;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.20093C>T|_NM_001267550.2:c.21044C>T|_NM_003319.4:c.13282+13751C>T|_NM_133378.4:c.17312C>T|_NM_133432.3:c.13657+13751C>T|_NM_133437.4:c.13858+13751C>T;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.21044C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1379;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0080;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,63;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant|SO:0001627|intron_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179589058;RS_dbsnp_common_v150_hg19_refseq=,72648960;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,55;Read_coverage=,118;Read_direction_test_probability=,0.9695485407289598;Read_position_test_probability=,0.8908798667828987;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,55;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0276;SF=41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.993956|0.00604437;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050328080a05150436000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon69:c.C17312T:p.A5771V,TTN:NM_001256850:exon70:c.C20093T:p.A6698V,TTN:NM_001267550:exon72:c.C21044T:p.A7015V;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0026;esp6500siv2_ea=0.0031;esp6500siv2_all=0.0026;esp6500siv2_ea=0.0031;1000g2015aug_all=0.0357428;avsnp147=rs72648960;Kaviar_AF=0.0150904;Kaviar_AC=2333;Kaviar_AN=154602;ExAC_ALL=0.0165;ExAC_AFR=0.0012;ExAC_AMR=0.0025;ExAC_EAS=0.1206;ExAC_FIN=0.0234;ExAC_NFE=0.0040;ExAC_OTH=0.0201;ExAC_SAS=0.0283;CLNALLELEID=55845;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.074;SIFT_pred=T;Polyphen2_HDIV_score=0.096;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.089;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=0.96;MutationAssessor_pred=L;FATHMM_score=-0.33;FATHMM_pred=T;PROVEAN_score=-2.43;PROVEAN_pred=N;VEST3_score=0.391;CADD_raw=2.818;CADD_phred=21.5;DANN_score=0.970;fathmm-MKL_coding_score=0.919;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.127;MetaSVM_pred=T;MetaLR_score=0.002;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=6.02;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.983;phastCons20way_mammalian=0.998;SiPhy_29way_logOdds=16.243;GDI_full_10282015=.;dpsi_max_tissue=0.0672;dpsi_zscore=0.370;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0165;gnomAD_exome_AFR=0.0014;gnomAD_exome_AMR=0.0015;gnomAD_exome_ASJ=0.0103;gnomAD_exome_EAS=0.1235;gnomAD_exome_FIN=0.0231;gnomAD_exome_NFE=0.0029;gnomAD_exome_OTH=0.0149;gnomAD_exome_SAS=0.0269;gnomAD_genome_ALL=0.0122;gnomAD_genome_AFR=0.0021;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0.1215;gnomAD_genome_FIN=0.0261;gnomAD_genome_NFE=0.0041;gnomAD_genome_OTH=0.0132;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:112:0,53 2 179589241 46677;rs17355446 G A 200.00 . #_unique_end_positions=,31;#_unique_start_positions=,26;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0023;AF_ESP_clinvar_20171029_hg19=,0.0152;AF_EXAC_clinvar_20171029_hg19=,0.05105;AF_TGP_clinvar_20171029_hg19=,0.0515;ALLELEID_clinvar_20171029_hg19=,55842;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1441;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_596869.4:p.Ala5710Val|_NP_001254479.2:p.Ala6954Val|_NP_001243779.1:p.Ala6637Val;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Ala6954Val;BaseQRankSum=,-0.21;CAF_dbsnp_common_v150_hg19_refseq=,0.9485|0.05152;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179589241G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:88041;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.19910C>T|_NM_001267550.2:c.20861C>T|_NM_003319.4:c.13282+13568C>T|_NM_133378.4:c.17129C>T|_NM_133432.3:c.13657+13568C>T|_NM_133437.4:c.13858+13568C>T;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.20861C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0020;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0298;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,37;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant|SO:0001627|intron_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179589241;RS_dbsnp_common_v150_hg19_refseq=,17355446;Read_count=,44;Read_coverage=,103;Read_direction_test_probability=,0.9291077957046516;Read_position_test_probability=,0.9500003437626601;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,66;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1258;SF=17;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.978261|0.0217391;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128080a05150537000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.025;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon69:c.C17129T:p.A5710V,TTN:NM_001256850:exon70:c.C19910T:p.A6637V,TTN:NM_001267550:exon72:c.C20861T:p.A6954V;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0152;esp6500siv2_ea=0.0190;esp6500siv2_all=0.0152;esp6500siv2_ea=0.0190;1000g2015aug_all=0.0515176;avsnp147=rs17355446;Kaviar_AF=0.0467652;Kaviar_AC=7230;Kaviar_AN=154602;ExAC_ALL=0.0511;ExAC_AFR=0.0069;ExAC_AMR=0.1873;ExAC_EAS=0.0008;ExAC_FIN=0.0562;ExAC_NFE=0.0198;ExAC_OTH=0.0693;ExAC_SAS=0.1390;CLNALLELEID=55842;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.548;SIFT_pred=T;Polyphen2_HDIV_score=0.811;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.228;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=1.115;MutationAssessor_pred=L;FATHMM_score=1.04;FATHMM_pred=T;PROVEAN_score=-2.11;PROVEAN_pred=N;VEST3_score=0.182;CADD_raw=3.167;CADD_phred=22.7;DANN_score=0.988;fathmm-MKL_coding_score=0.984;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.154;MetaSVM_pred=T;MetaLR_score=0.004;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=6.01;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.996;phastCons20way_mammalian=0.994;SiPhy_29way_logOdds=20.521;GDI_full_10282015=.;dpsi_max_tissue=-0.0808;dpsi_zscore=-0.387;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0572;gnomAD_exome_AFR=0.0058;gnomAD_exome_AMR=0.1849;gnomAD_exome_ASJ=0.0188;gnomAD_exome_EAS=0.0008;gnomAD_exome_FIN=0.0557;gnomAD_exome_NFE=0.0195;gnomAD_exome_OTH=0.0494;gnomAD_exome_SAS=0.1280;gnomAD_genome_ALL=0.0233;gnomAD_genome_AFR=0.0070;gnomAD_genome_AMR=0.1591;gnomAD_genome_ASJ=0.0232;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0521;gnomAD_genome_NFE=0.0199;gnomAD_genome_OTH=0.0398;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . 1:93:0,39 . . . . . . . . . . . . . . . . . . . . . . . . 2 179590329 46672;rs17355460 C T 200.00 . #_unique_end_positions=,42;#_unique_start_positions=,36;AC=3;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0008;AF_ESP_clinvar_20171029_hg19=,0.0130;AF_EXAC_clinvar_20171029_hg19=,0.01160;AF_TGP_clinvar_20171029_hg19=,0.0066;ALLELEID_clinvar_20171029_hg19=,55837;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0086;AN=3;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001254479.2:p.Gly6868Arg|_NP_596869.4:p.Gly5624Arg|_NP_001243779.1:p.Gly6551Arg;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Gly6868Arg;BaseQRankSum=,-0.32;CAF_dbsnp_common_v150_hg19_refseq=,0.9934|0.006589;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1837342|OMIM:608807|Orphanet:ORPHA140922|MedGen:C1858763|OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNDN_clinvar_20171029_hg19=,Limb-girdle_muscular_dystrophy|_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179590329C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.19651G>A|_NM_001267550.2:c.20602G>A|_NM_003319.4:c.13282+12480G>A|_NM_133378.4:c.16870G>A|_NM_133432.3:c.13657+12480G>A|_NM_133437.4:c.13858+12480G>A;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.20602G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0209;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,46;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant|SO:0001627|intron_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179590329;RS_dbsnp_common_v150_hg19_refseq=,17355460;Read_count=,61;Read_coverage=,129;Read_direction_test_probability=,0.9996012965922586;Read_position_test_probability=,0.9780496370980136;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,83;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0051;SF=23,29,38;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.987911|0.0120887;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050328080a05040537000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.00833333;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.998;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon68:c.G16870A:p.G5624R,TTN:NM_001256850:exon69:c.G19651A:p.G6551R,TTN:NM_001267550:exon71:c.G20602A:p.G6868R;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0130;esp6500siv2_ea=0.0173;esp6500siv2_all=0.0130;esp6500siv2_ea=0.0173;1000g2015aug_all=0.00658946;avsnp147=rs17355460;Kaviar_AF=0.0119856;Kaviar_AC=1853;Kaviar_AN=154602;ExAC_ALL=0.0116;ExAC_AFR=0.0031;ExAC_AMR=0.0047;ExAC_EAS=0;ExAC_FIN=0.0079;ExAC_NFE=0.0163;ExAC_OTH=0.0150;ExAC_SAS=0.0097;CLNALLELEID=55837;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.085;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.997;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=3.875;MutationAssessor_pred=H;FATHMM_score=-1.48;FATHMM_pred=T;PROVEAN_score=-4.62;PROVEAN_pred=D;VEST3_score=0.311;CADD_raw=3.112;CADD_phred=22.5;DANN_score=0.848;fathmm-MKL_coding_score=0.981;fathmm-MKL_coding_pred=D;MetaSVM_score=0.562;MetaSVM_pred=D;MetaLR_score=0.674;MetaLR_pred=D;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=5.86;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.881;phastCons20way_mammalian=0.348;SiPhy_29way_logOdds=20.563;GDI_full_10282015=.;dpsi_max_tissue=-0.7550;dpsi_zscore=-1.312;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM1516144#"Cardiomyopathy_dilated";gnomAD_exome_ALL=0.0118;gnomAD_exome_AFR=0.0031;gnomAD_exome_AMR=0.0053;gnomAD_exome_ASJ=0.0090;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0127;gnomAD_exome_NFE=0.0179;gnomAD_exome_OTH=0.0156;gnomAD_exome_SAS=0.0074;gnomAD_genome_ALL=0.0108;gnomAD_genome_AFR=0.0040;gnomAD_genome_AMR=0.0143;gnomAD_genome_ASJ=0.0199;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0103;gnomAD_genome_NFE=0.0154;gnomAD_genome_OTH=0.0132;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-7 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . 1:122:0,60 . . . . . 1:145:0,68 . . . . . . . . 1:97:0,48 . . . 2 179593270 46658;rs76771282 A G 200.00 . #_unique_end_positions=,33;#_unique_start_positions=,27;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0078;AF_EXAC_clinvar_20171029_hg19=,0.00717;AF_TGP_clinvar_20171029_hg19=,0.0022;ALLELEID_clinvar_20171029_hg19=,55823;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0014;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.9978|0.002196;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1837342|OMIM:608807|Orphanet:ORPHA140922|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1858763|OMIM:604145|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy|_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179593270A>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_conflicting_interpretations;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:63893;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.18432T>C|_NM_001267550.2:c.19383T>C|_NM_003319.4:c.13282+9539T>C|_NM_133378.4:c.15651T>C|_NM_133432.3:c.13657+9539T>C|_NM_133437.4:c.13858+9539T>C;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.19383T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0099;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,56;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001627|intron_variant|SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179593270;RS_dbsnp_common_v150_hg19_refseq=,76771282;Read_count=,35;Read_coverage=,98;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.6489740472801989;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,42;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=33;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.99478|0.00522014;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050228080305040436000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.996;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133378:exon63:c.T15651C:p.N5217N,TTN:NM_001256850:exon64:c.T18432C:p.N6144N,TTN:NM_001267550:exon66:c.T19383C:p.N6461N;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0078;esp6500siv2_ea=0.0104;esp6500siv2_all=0.0078;esp6500siv2_ea=0.0104;1000g2015aug_all=0.00219649;avsnp147=rs76771282;Kaviar_AF=0.0074449;Kaviar_AC=1151;Kaviar_AN=154602;ExAC_ALL=0.0072;ExAC_AFR=0.0015;ExAC_AMR=0.0005;ExAC_EAS=0;ExAC_FIN=0.0040;ExAC_NFE=0.0115;ExAC_OTH=0.0023;ExAC_SAS=0.0029;CLNALLELEID=55823;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.2787;dpsi_zscore=0.859;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0063;gnomAD_exome_AFR=0.0014;gnomAD_exome_AMR=0.0010;gnomAD_exome_ASJ=0.0011;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0047;gnomAD_exome_NFE=0.0114;gnomAD_exome_OTH=0.0035;gnomAD_exome_SAS=0.0024;gnomAD_genome_ALL=0.0065;gnomAD_genome_AFR=0.0024;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0052;gnomAD_genome_NFE=0.0101;gnomAD_genome_OTH=0.0071;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:87:0,33 . . . . . . . . 2 179593352 46656;rs11888217 C T 200.00 . #_unique_end_positions=,53;#_unique_start_positions=,43;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0870;AF_ESP_clinvar_20171029_hg19=,0.0428;AF_EXAC_clinvar_20171029_hg19=,0.06986;AF_TGP_clinvar_20171029_hg19=,0.0933;ALLELEID_clinvar_20171029_hg19=,55821;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1513;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001243779.1:p.Ser6117Asn|_NP_596869.4:p.Ser5190Asn|_NP_001254479.2:p.Ser6434Asn;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Ser6434Asn;BaseQRankSum=,0.17;CAF_dbsnp_common_v150_hg19_refseq=,0.9067|0.09325;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179593352C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:88077;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.18350G>A|_NM_001267550.2:c.19301G>A|_NM_003319.4:c.13282+9457G>A|_NM_133378.4:c.15569G>A|_NM_133432.3:c.13657+9457G>A|_NM_133437.4:c.13858+9457G>A;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.19301G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0238;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0358;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,66;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant|SO:0001627|intron_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179593352;RS_dbsnp_common_v150_hg19_refseq=,11888217;Read_count=,67;Read_coverage=,111;Read_direction_test_probability=,0.9999818824860618;Read_position_test_probability=,0.994747559801761;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,45;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1912;SF=17;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.941033|0.058967;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050328080a05150537000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.122449;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0221239;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.0365854;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.0294118;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.172414;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.0674157;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.145833;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.0384615;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.0114943;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0714286;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon63:c.G15569A:p.S5190N,TTN:NM_001256850:exon64:c.G18350A:p.S6117N,TTN:NM_001267550:exon66:c.G19301A:p.S6434N;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0428;esp6500siv2_ea=0.0246;esp6500siv2_all=0.0428;esp6500siv2_ea=0.0246;1000g2015aug_all=0.0932508;avsnp147=rs11888217;Kaviar_AF=0.0656654;Kaviar_AC=10152;Kaviar_AN=154602;ExAC_ALL=0.0699;ExAC_AFR=0.0869;ExAC_AMR=0.1891;ExAC_EAS=0.0256;ExAC_FIN=0.0580;ExAC_NFE=0.0275;ExAC_OTH=0.0820;ExAC_SAS=0.1750;CLNALLELEID=55821;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.376;SIFT_pred=T;Polyphen2_HDIV_score=0.549;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.258;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=2.51;MutationAssessor_pred=M;FATHMM_score=-0.3;FATHMM_pred=T;PROVEAN_score=-1.65;PROVEAN_pred=N;VEST3_score=0.05;CADD_raw=1.515;CADD_phred=13.39;DANN_score=0.891;fathmm-MKL_coding_score=0.955;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.792;MetaSVM_pred=T;MetaLR_score=0.011;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=4.73;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=16.666;GDI_full_10282015=.;dpsi_max_tissue=0.1455;dpsi_zscore=0.606;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0743;gnomAD_exome_AFR=0.0826;gnomAD_exome_AMR=0.1868;gnomAD_exome_ASJ=0.0360;gnomAD_exome_EAS=0.0260;gnomAD_exome_FIN=0.0564;gnomAD_exome_NFE=0.0266;gnomAD_exome_OTH=0.0623;gnomAD_exome_SAS=0.1743;gnomAD_genome_ALL=0.0495;gnomAD_genome_AFR=0.0820;gnomAD_genome_AMR=0.1659;gnomAD_genome_ASJ=0.0298;gnomAD_genome_EAS=0.0310;gnomAD_genome_FIN=0.0527;gnomAD_genome_NFE=0.0253;gnomAD_genome_OTH=0.0551;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . 1:100:0,62 . . . . . . . . . . . . . . . . . . . . . . . . 2 179593862 46649;rs72648950 G A 200.00 . #_unique_end_positions=,34;#_unique_start_positions=,34;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0008;AF_ESP_clinvar_20171029_hg19=,0.0059;AF_EXAC_clinvar_20171029_hg19=,0.02584;AF_TGP_clinvar_20171029_hg19=,0.0242;ALLELEID_clinvar_20171029_hg19=,55814;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1470;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.03;CAF_dbsnp_common_v150_hg19_refseq=,0.9758|0.02416;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1837342|OMIM:608807|Orphanet:ORPHA140922|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1858763|OMIM:604145|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy|_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179593862G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:137027;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.17952C>T|_NM_001267550.2:c.18903C>T|_NM_003319.4:c.13282+8947C>T|_NM_133378.4:c.15171C>T|_NM_133432.3:c.13657+8947C>T|_NM_133437.4:c.13858+8947C>T;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.18903C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0080;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,49;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001627|intron_variant|SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179593862;RS_dbsnp_common_v150_hg19_refseq=,72648950;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,52;Read_coverage=,95;Read_direction_test_probability=,0.870220263382359;Read_position_test_probability=,0.9736330223580706;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,46;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0102;SF=17;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.985439|0.0145614;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050328080305150036000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.943;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133378:exon62:c.C15171T:p.T5057T,TTN:NM_001256850:exon63:c.C17952T:p.T5984T,TTN:NM_001267550:exon65:c.C18903T:p.T6301T;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0059;esp6500siv2_ea=0.0065;esp6500siv2_all=0.0059;esp6500siv2_ea=0.0065;1000g2015aug_all=0.0241613;avsnp147=rs72648950;Kaviar_AF=0.0238677;Kaviar_AC=3690;Kaviar_AN=154602;ExAC_ALL=0.0258;ExAC_AFR=0.0043;ExAC_AMR=0.1843;ExAC_EAS=0;ExAC_FIN=0.0285;ExAC_NFE=0.0067;ExAC_OTH=0.0286;ExAC_SAS=0.0138;CLNALLELEID=55814;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.4775;dpsi_zscore=1.110;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0329;gnomAD_exome_AFR=0.0031;gnomAD_exome_AMR=0.1821;gnomAD_exome_ASJ=0.0014;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0297;gnomAD_exome_NFE=0.0064;gnomAD_exome_OTH=0.0297;gnomAD_exome_SAS=0.0114;gnomAD_genome_ALL=0.0120;gnomAD_genome_AFR=0.0049;gnomAD_genome_AMR=0.1495;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0258;gnomAD_genome_NFE=0.0065;gnomAD_genome_OTH=0.0143;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . 1:92:0,50 . . . . . . . . . . . . . . . . . . . . . . . . 2 179594107 46644;rs72648949 G C 200.00 . #_unique_end_positions=,39;#_unique_start_positions=,39;AC=3;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0034;AF_EXAC_clinvar_20171029_hg19=,0.00298;AF_TGP_clinvar_20171029_hg19=,0.0006;ALLELEID_clinvar_20171029_hg19=,55809;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0014;AN=3;Amino_acid_change=,NP_001254479.2:p.Thr6259Ser|_NP_001243779.1:p.Thr5942Ser|_NP_596869.4:p.Thr5015Ser;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Thr6259Ser;BaseQRankSum=,-0.14;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1837342|OMIM:608807|Orphanet:ORPHA140922|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1858763|OMIM:604145|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy|_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive|not_provided;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179594107G>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_conflicting_interpretations;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:106595;Coding_region_change=,NM_001256850.1:c.17825C>G|_NM_001267550.2:c.18776C>G|_NM_003319.4:c.13282+8702C>G|_NM_133378.4:c.15044C>G|_NM_133432.3:c.13657+8702C>G|_NM_133437.4:c.13858+8702C>G;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.18776C>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;Exact_match=,clinvar_20171029_hg19|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,79;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,C/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8985|rna8986|rna8987;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant|SO:0001627|intron_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;Read_count=,66;Read_coverage=,115;Read_direction_test_probability=,0.9874203263844;Read_position_test_probability=,0.9941608352716816;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,36;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;SF=4,8,18;conservation_score=,0.988;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon61:c.C15044G:p.T5015S,TTN:NM_001256850:exon62:c.C17825G:p.T5942S,TTN:NM_001267550:exon64:c.C18776G:p.T6259S;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0034;esp6500siv2_ea=0.0050;esp6500siv2_all=0.0034;esp6500siv2_ea=0.0050;1000g2015aug_all=0.000599042;avsnp147=rs72648949;Kaviar_AF=0.0029042;Kaviar_AC=449;Kaviar_AN=154602;ExAC_ALL=0.0030;ExAC_AFR=0.0008;ExAC_AMR=0.0010;ExAC_EAS=0;ExAC_FIN=0.0005;ExAC_NFE=0.0048;ExAC_OTH=0.0067;ExAC_SAS=0.0008;CLNALLELEID=55809;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.572;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=0.31;MutationAssessor_pred=N;FATHMM_score=-0.14;FATHMM_pred=T;PROVEAN_score=-1.27;PROVEAN_pred=N;VEST3_score=0.158;CADD_raw=0.841;CADD_phred=9.716;DANN_score=0.784;fathmm-MKL_coding_score=0.873;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.025;MetaSVM_pred=T;MetaLR_score=0.112;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=3.03;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=0.955;SiPhy_29way_logOdds=4.760;GDI_full_10282015=.;dpsi_max_tissue=-0.0600;dpsi_zscore=-0.309;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0031;gnomAD_exome_AFR=0.0006;gnomAD_exome_AMR=0.0013;gnomAD_exome_ASJ=0.0319;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0005;gnomAD_exome_NFE=0.0030;gnomAD_exome_OTH=0.0051;gnomAD_exome_SAS=0.0011;gnomAD_genome_ALL=0.0019;gnomAD_genome_AFR=0.0003;gnomAD_genome_AMR=0.0036;gnomAD_genome_ASJ=0.0331;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0027;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=8 GT:DP:CLCAD2 . . . . 1:106:0,61 . . . 1:167:0,87 . . . . . . . . . 1:130:0,67 . . . . . . . . . . . . . . . . . . . . . . . 2 179595372 46633;rs146983095 T C 18.24 . #_unique_end_positions=,12;#_unique_start_positions=,10;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0079;AF_EXAC_clinvar_20171029_hg19=,0.00698;AF_TGP_clinvar_20171029_hg19=,0.0022;ALLELEID_clinvar_20171029_hg19=,55798;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0014;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001243779.1:p.Glu5646Gly|_NP_001254479.2:p.Glu5963Gly|_NP_596869.4:p.Glu4719Gly;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Glu5963Gly;BaseQRankSum=,0.12;CAF_dbsnp_common_v150_hg19_refseq=,0.9978|0.002196;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1837342|OMIM:608807|Orphanet:ORPHA140922|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1858763|OMIM:604145|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy|_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179595372T>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_conflicting_interpretations;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:201573;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.16937A>G|_NM_001267550.2:c.17888A>G|_NM_003319.4:c.13282+7437A>G|_NM_133378.4:c.14156A>G|_NM_133432.3:c.13657+7437A>G|_NM_133437.4:c.13858+7437A>G;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.17888A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0099;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,27;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant|SO:0001627|intron_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,18.24025214815088;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179595372;RS_dbsnp_common_v150_hg19_refseq=,146983095;Read_count=,13;Read_coverage=,61;Read_direction_test_probability=,0.9259864163732676;Read_position_test_probability=,0.42249119626963416;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,34;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=33;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.994677|0.00532317;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050228080a05040436000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon58:c.A14156G:p.E4719G,TTN:NM_001256850:exon59:c.A16937G:p.E5646G,TTN:NM_001267550:exon61:c.A17888G:p.E5963G;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0079;esp6500siv2_ea=0.0104;esp6500siv2_all=0.0079;esp6500siv2_ea=0.0104;1000g2015aug_all=0.00219649;avsnp147=rs146983095;Kaviar_AF=0.0074643;Kaviar_AC=1154;Kaviar_AN=154602;ExAC_ALL=0.0070;ExAC_AFR=0.0014;ExAC_AMR=0.0005;ExAC_EAS=0;ExAC_FIN=0.0039;ExAC_NFE=0.0112;ExAC_OTH=0.0022;ExAC_SAS=0.0028;CLNALLELEID=55798;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.328;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.003;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=-0.02;MutationAssessor_pred=N;FATHMM_score=1.07;FATHMM_pred=T;PROVEAN_score=-3.21;PROVEAN_pred=D;VEST3_score=0.262;CADD_raw=1.928;CADD_phred=15.76;DANN_score=0.927;fathmm-MKL_coding_score=0.958;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.087;MetaSVM_pred=T;MetaLR_score=0.044;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.99;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=0.964;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=0.995;SiPhy_29way_logOdds=10.771;GDI_full_10282015=.;dpsi_max_tissue=0.2308;dpsi_zscore=0.780;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0063;gnomAD_exome_AFR=0.0014;gnomAD_exome_AMR=0.0010;gnomAD_exome_ASJ=0.0011;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0047;gnomAD_exome_NFE=0.0115;gnomAD_exome_OTH=0.0035;gnomAD_exome_SAS=0.0024;gnomAD_genome_ALL=0.0064;gnomAD_genome_AFR=0.0023;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0052;gnomAD_genome_NFE=0.0101;gnomAD_genome_OTH=0.0071;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:58:0,13 . . . . . . . . 2 179597242 46618;rs72648940 C A 200.00 . #_unique_end_positions=,45;#_unique_start_positions=,36;AC=2;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0009;AF_EXAC_clinvar_20171029_hg19=,0.00053;AF_TGP_clinvar_20171029_hg19=,0.0004;ALLELEID_clinvar_20171029_hg19=,55783;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0014;AN=2;Amino_acid_change=,NP_596869.4:p.Asp4272Tyr|_NP_001254479.2:p.Asp5516Tyr|_NP_001243779.1:p.Asp5199Tyr;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Asp5516Tyr;BaseQRankSum=,0.14;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1837342|OMIM:608807|Orphanet:ORPHA140922|MedGen:C1858763|OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNDN_clinvar_20171029_hg19=,Limb-girdle_muscular_dystrophy|_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179597242C>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_conflicting_interpretations;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;Coding_region_change=,NM_001256850.1:c.15595G>T|_NM_001267550.2:c.16546G>T|_NM_003319.4:c.13282+5567G>T|_NM_133378.4:c.12814G>T|_NM_133432.3:c.13657+5567G>T|_NM_133437.4:c.13858+5567G>T;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.16546G>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;Exact_match=,clinvar_20171029_hg19|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,68;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,A/C;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8985|rna8986|rna8987;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant|SO:0001627|intron_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;Read_count=,55;Read_coverage=,127;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9087250793374047;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,59;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=23,38;conservation_score=,0.984;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon53:c.G12814T:p.D4272Y,TTN:NM_001256850:exon54:c.G15595T:p.D5199Y,TTN:NM_001267550:exon56:c.G16546T:p.D5516Y;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0009;esp6500siv2_ea=0.0013;esp6500siv2_all=0.0009;esp6500siv2_ea=0.0013;1000g2015aug_all=0.000399361;avsnp147=rs72648940;Kaviar_AF=0.0005369;Kaviar_AC=83;Kaviar_AN=154602;ExAC_ALL=0.0005;ExAC_AFR=0;ExAC_AMR=0.0010;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0008;ExAC_OTH=0.0011;ExAC_SAS=6.062e-05;CLNALLELEID=55783;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.004;SIFT_pred=D;Polyphen2_HDIV_score=0.994;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.925;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=3.07;MutationAssessor_pred=M;FATHMM_score=-1.54;FATHMM_pred=D;PROVEAN_score=-5.35;PROVEAN_pred=D;VEST3_score=0.528;CADD_raw=1.791;CADD_phred=14.94;DANN_score=0.899;fathmm-MKL_coding_score=0.986;fathmm-MKL_coding_pred=D;MetaSVM_score=0.453;MetaSVM_pred=D;MetaLR_score=0.670;MetaLR_pred=D;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=6.17;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.903;phastCons20way_mammalian=0.931;SiPhy_29way_logOdds=20.879;GDI_full_10282015=.;dpsi_max_tissue=-1.6609;dpsi_zscore=-1.782;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0005;gnomAD_exome_AFR=6.545e-05;gnomAD_exome_AMR=0.0007;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=4.488e-05;gnomAD_exome_NFE=0.0009;gnomAD_exome_OTH=0.0004;gnomAD_exome_SAS=3.249e-05;gnomAD_genome_ALL=0.0004;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0007;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=7 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . 1:119:0,52 . . . . . . . . . . . . . . 1:110:0,57 . . . 2 179598228 46607;rs12993099 A G 195.65 . #_unique_end_positions=,58;#_unique_start_positions=,38;AC=11;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0023;AF_ESP_clinvar_20171029_hg19=,0.0589;AF_EXAC_clinvar_20171029_hg19=,0.05368;AF_TGP_clinvar_20171029_hg19=,0.0296;ALLELEID_clinvar_20171029_hg19=,55772;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0620;AN=11;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.28;CAF_dbsnp_common_v150_hg19_refseq=,0.9704|0.02955;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179598228A>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:70359;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.14841T>C|_NM_001267550.2:c.15792T>C|_NM_003319.4:c.13282+4581T>C|_NM_133378.4:c.12060T>C|_NM_133432.3:c.13657+4581T>C|_NM_133437.4:c.13858+4581T>C;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.15792T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0895;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,97;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001627|intron_variant|SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179598228;RS_dbsnp_common_v150_hg19_refseq=,12993099;Read_count=,78;Read_coverage=,152;Read_direction_test_probability=,0.9890225143742221;Read_position_test_probability=,0.9755754551936491;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,55;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0123;SF=0,5,10,15,16,27,28,35,36,40;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.933958|0.0660416;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128080305150537000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0254237;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.997;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133378:exon51:c.T12060C:p.I4020I,TTN:NM_001256850:exon52:c.T14841C:p.I4947I,TTN:NM_001267550:exon54:c.T15792C:p.I5264I;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0589;esp6500siv2_ea=0.0792;esp6500siv2_all=0.0589;esp6500siv2_ea=0.0792;1000g2015aug_all=0.0295527;avsnp147=rs12993099;Kaviar_AF=0.0534663;Kaviar_AC=8266;Kaviar_AN=154602;ExAC_ALL=0.0537;ExAC_AFR=0.0102;ExAC_AMR=0.0415;ExAC_EAS=0.0002;ExAC_FIN=0.0446;ExAC_NFE=0.0786;ExAC_OTH=0.0725;ExAC_SAS=0.0173;CLNALLELEID=55772;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.5568;dpsi_zscore=1.188;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0530;gnomAD_exome_AFR=0.0115;gnomAD_exome_AMR=0.0446;gnomAD_exome_ASJ=0.0603;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0.0453;gnomAD_exome_NFE=0.0797;gnomAD_exome_OTH=0.0715;gnomAD_exome_SAS=0.0166;gnomAD_genome_ALL=0.0505;gnomAD_genome_AFR=0.0133;gnomAD_genome_AMR=0.0656;gnomAD_genome_ASJ=0.0629;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0432;gnomAD_genome_NFE=0.0776;gnomAD_genome_OTH=0.0570;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 1:148:0,74 . . . . 1:158:0,81 . . . . 1:186:0,77 . . . . 1:159:0,79 1:146:0,74 . . . . . . . . . . 1:206:0,89 1:206:0,101 . . . . . . 1/1:192:0,192 1:162:0,69 . . . 1:158:0,77 . 2 179600563 46590;rs2742348 G A 187.18 . #_unique_end_positions=,90;#_unique_start_positions=,66;AC=84;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9342;ALLELEID_clinvar_20171029_hg19=,55755;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9942;AN=84;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;CAF_dbsnp_common_v150_hg19_refseq=,0.01817|0.9818;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179600563G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:26959;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.13659C>T|_NM_001267550.2:c.14610C>T|_NM_003319.4:c.13282+2246C>T|_NM_133378.4:c.10878C>T|_NM_133432.3:c.13657+2246C>T|_NM_133437.4:c.13858+2246C>T;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.14610C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,1.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,1.0000;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,75;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,A/A;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001627|intron_variant|SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179600563;RS_dbsnp_common_v150_hg19_refseq=,2742348;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,155;Read_coverage=,155;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,80;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,1.0000;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.0252421|0.974758;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05032808030515053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.959184;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,1;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,1;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,1;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.961111;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.924779;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.92;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133378:exon47:c.C10878T:p.S3626S,TTN:NM_001256850:exon48:c.C13659T:p.S4553S,TTN:NM_001267550:exon50:c.C14610T:p.S4870S;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.9810;esp6500siv2_ea=0.9999;esp6500siv2_all=0.9810;esp6500siv2_ea=0.9999;1000g2015aug_all=0.981829;avsnp147=rs2742348;Kaviar_AF=0.943662;Kaviar_AC=145892;Kaviar_AN=154602;ExAC_ALL=0.9949;ExAC_AFR=0.9424;ExAC_AMR=0.9974;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9997;ExAC_OTH=0.9989;ExAC_SAS=0.9999;CLNALLELEID=55755;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1931;dpsi_zscore=-0.674;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.9957;gnomAD_exome_AFR=0.9416;gnomAD_exome_AMR=0.9968;gnomAD_exome_ASJ=1;gnomAD_exome_EAS=1;gnomAD_exome_FIN=1;gnomAD_exome_NFE=0.9996;gnomAD_exome_OTH=0.9982;gnomAD_exome_SAS=0.9999;gnomAD_genome_ALL=0.9840;gnomAD_genome_AFR=0.9445;gnomAD_genome_AMR=0.9928;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=1;gnomAD_genome_FIN=1;gnomAD_genome_NFE=0.9999;gnomAD_genome_OTH=0.9980;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 1/1:136:0,136 1/1:134:0,134 1/1:121:0,121 1/1:139:0,139 1/1:98:0,98 1/1:81:0,81 1/1:90:0,90 1/1:126:0,126 1/1:130:0,130 1/1:151:0,151 1/1:180:0,180 1/1:113:0,113 1/1:161:0,161 1/1:134:0,134 1/1:173:0,173 1/1:125:0,125 1/1:154:0,154 1/1:136:0,136 1/1:137:0,137 1/1:85:0,85 1/1:152:0,152 1/1:148:0,148 1/1:107:0,107 1/1:100:0,100 1/1:133:0,133 1/1:81:0,81 1/1:134:0,134 1/1:162:0,162 1/1:170:0,170 1/1:148:0,148 1/1:124:0,124 1/1:76:0,76 1/1:108:0,108 1/1:99:0,99 1/1:147:0,147 1/1:124:0,124 1/1:130:0,130 1/1:108:0,108 1/1:104:0,104 1/1:128:0,128 1/1:149:0,149 1/1:145:0,145 2 179600648 46586;rs2742347 C T 200.00 . #_unique_end_positions=,55;#_unique_start_positions=,46;AC=4;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2284;AF_ESP_clinvar_20171029_hg19=,0.0974;AF_EXAC_clinvar_20171029_hg19=,0.09586;AF_TGP_clinvar_20171029_hg19=,0.1448;ALLELEID_clinvar_20171029_hg19=,55751;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1916;AN=4;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001254479.2:p.Arg4842Lys|_NP_596869.4:p.Arg3598Lys|_NP_001243779.1:p.Arg4525Lys;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Arg4842Lys;BaseQRankSum=,-0.3;CAF_dbsnp_common_v150_hg19_refseq=,0.8552|0.1448;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179600648C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:27324;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.13574G>A|_NM_001267550.2:c.14525G>A|_NM_003319.4:c.13282+2161G>A|_NM_133378.4:c.10793G>A|_NM_133432.3:c.13657+2161G>A|_NM_133437.4:c.13858+2161G>A;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.14525G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1935;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0517;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,89;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_133378.4|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8985|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant|SO:0001627|intron_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179600648;RS_dbsnp_common_v150_hg19_refseq=,2742347;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,95;Read_coverage=,209;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.924781502568946;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_133378.4|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,120;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0440;SF=14,19,25,29;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.866268|0.133732;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050328080a05150537000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.183673;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0625;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.182927;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.205882;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.0227273;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.209302;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.19186;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.255556;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.22;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.202797;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.0340909;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.20354;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.526;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_133378.4|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon47:c.G10793A:p.R3598K,TTN:NM_001256850:exon48:c.G13574A:p.R4525K,TTN:NM_001267550:exon50:c.G14525A:p.R4842K;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0974;esp6500siv2_ea=0.0479;esp6500siv2_all=0.0974;esp6500siv2_ea=0.0479;1000g2015aug_all=0.144768;avsnp147=rs2742347;Kaviar_AF=0.0916288;Kaviar_AC=14166;Kaviar_AN=154602;ExAC_ALL=0.0959;ExAC_AFR=0.2159;ExAC_AMR=0.2707;ExAC_EAS=0.2133;ExAC_FIN=0.0575;ExAC_NFE=0.0500;ExAC_OTH=0.0713;ExAC_SAS=0.0433;CLNALLELEID=55751;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.973;SIFT_pred=T;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=-0.17;FATHMM_pred=T;PROVEAN_score=-0.11;PROVEAN_pred=N;VEST3_score=0.03;CADD_raw=0.315;CADD_phred=5.839;DANN_score=0.620;fathmm-MKL_coding_score=0.397;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.067;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=1.76;phyloP7way_vertebrate=-0.435;phyloP20way_mammalian=-0.208;phastCons7way_vertebrate=0.337;phastCons20way_mammalian=0.031;SiPhy_29way_logOdds=9.396;GDI_full_10282015=.;dpsi_max_tissue=0.0686;dpsi_zscore=0.376;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0989;gnomAD_exome_AFR=0.2154;gnomAD_exome_AMR=0.2529;gnomAD_exome_ASJ=0.0725;gnomAD_exome_EAS=0.2089;gnomAD_exome_FIN=0.0536;gnomAD_exome_NFE=0.0473;gnomAD_exome_OTH=0.0833;gnomAD_exome_SAS=0.0424;gnomAD_genome_ALL=0.1101;gnomAD_genome_AFR=0.2204;gnomAD_genome_AMR=0.2141;gnomAD_genome_ASJ=0.0795;gnomAD_genome_EAS=0.1884;gnomAD_genome_FIN=0.0604;gnomAD_genome_NFE=0.0471;gnomAD_genome_OTH=0.0645;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 . . . . . . . . . . . . . . 1:189:0,85 . . . . 1:98:0,43 . . . . . 1:81:0,41 . . . 1:168:0,74 . . . . . . . . . . . . 2 179604160 47840;rs1883085 T G 200.00 . #_unique_end_positions=,54;#_unique_start_positions=,43;AC=4;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0030;AF_ESP_clinvar_20171029_hg19=,0.0338;AF_EXAC_clinvar_20171029_hg19=,0.07226;AF_TGP_clinvar_20171029_hg19=,0.0763;ALLELEID_clinvar_20171029_hg19=,57004;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1700;AN=4;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001243779.1:p.Leu4283Phe|_NP_001254479.2:p.Leu4600Phe|_NP_597681.4:p.Leu4429Phe|_NP_597676.3:p.Leu4362Phe|_NP_003310.4:p.Leu4237Phe;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Leu4600Phe;BaseQRankSum=,-0.15;CAF_dbsnp_common_v150_hg19_refseq=,0.9237|0.07628;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179604160T>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,UniProtKB_(protein):Q8WZ42#VAR_026636;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.12849A>C|_NM_001267550.2:c.13800A>C|_NM_003319.4:c.12711A>C|_NM_133378.4:c.10361-1073A>C|_NM_133432.3:c.13086A>C|_NM_133437.4:c.13287A>C;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.13800A>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1935;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0477;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,95;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,G/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant|SO:0001627|intron_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179604160;RS_dbsnp_common_v150_hg19_refseq=,1883085;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,79;Read_coverage=,179;Read_direction_test_probability=,0.9801197855501151;Read_position_test_probability=,0.9688249453303057;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,84;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0174;SF=14,19,25,29;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.961295|0.0387046;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050328080a05150537000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0619469;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.182927;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.205882;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.0113636;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.209302;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.19186;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.17;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.0227273;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.0;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon45:c.A12711C:p.L4237F,TTN:NM_001256850:exon46:c.A12849C:p.L4283F,TTN:NM_133432:exon46:c.A13086C:p.L4362F,TTN:NM_133437:exon46:c.A13287C:p.L4429F,TTN:NM_001267550:exon48:c.A13800C:p.L4600F;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0338;esp6500siv2_ea=0.0431;esp6500siv2_all=0.0338;esp6500siv2_ea=0.0431;1000g2015aug_all=0.076278;avsnp147=rs1883085;Kaviar_AF=0.0691194;Kaviar_AC=10686;Kaviar_AN=154602;ExAC_ALL=0.0723;ExAC_AFR=0.0104;ExAC_AMR=0.2595;ExAC_EAS=0.2126;ExAC_FIN=0.0573;ExAC_NFE=0.0459;ExAC_OTH=0.0489;ExAC_SAS=0.0190;CLNALLELEID=57004;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.729;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.895;MutationAssessor_pred=L;FATHMM_score=0.1;FATHMM_pred=T;PROVEAN_score=0.23;PROVEAN_pred=N;VEST3_score=0.038;CADD_raw=-1.298;CADD_phred=0.005;DANN_score=0.622;fathmm-MKL_coding_score=0.223;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.053;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=-5.34;phyloP7way_vertebrate=0.046;phyloP20way_mammalian=-0.220;phastCons7way_vertebrate=0.001;phastCons20way_mammalian=0.000;SiPhy_29way_logOdds=7.802;GDI_full_10282015=.;dpsi_max_tissue=-0.0577;dpsi_zscore=-0.299;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0792;gnomAD_exome_AFR=0.0109;gnomAD_exome_AMR=0.2423;gnomAD_exome_ASJ=0.0485;gnomAD_exome_EAS=0.2080;gnomAD_exome_FIN=0.0537;gnomAD_exome_NFE=0.0444;gnomAD_exome_OTH=0.0705;gnomAD_exome_SAS=0.0191;gnomAD_genome_ALL=0.0490;gnomAD_genome_AFR=0.0134;gnomAD_genome_AMR=0.2005;gnomAD_genome_ASJ=0.0530;gnomAD_genome_EAS=0.1865;gnomAD_genome_FIN=0.0602;gnomAD_genome_NFE=0.0441;gnomAD_genome_OTH=0.0480;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . . . . . . 1:170:0,75 . . . . 1:113:0,59 . . . . . 1:100:0,45 . . . 1:138:0,77 . . . . . . . . . . . . 2 179604366 47838;rs2562829 T G 200.00 . #_unique_end_positions=,54;#_unique_start_positions=,41;AC=4;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0023;AF_ESP_clinvar_20171029_hg19=,0.0343;AF_EXAC_clinvar_20171029_hg19=,0.07227;AF_TGP_clinvar_20171029_hg19=,0.0761;ALLELEID_clinvar_20171029_hg19=,57002;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1700;AN=4;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_597676.3:p.Thr4294Pro|_NP_001254479.2:p.Thr4532Pro|_NP_003310.4:p.Thr4169Pro|_NP_001243779.1:p.Thr4215Pro|_NP_597681.4:p.Thr4361Pro;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Thr4532Pro;BaseQRankSum=,-0.28;CAF_dbsnp_common_v150_hg19_refseq=,0.9239|.|0.07608;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179604366T>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,UniProtKB_(protein):Q8WZ42#VAR_026635;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.12643A>C|_NM_001267550.2:c.13594A>C|_NM_003319.4:c.12505A>C|_NM_133378.4:c.10361-1279A>C|_NM_133432.3:c.12880A>C|_NM_133437.4:c.13081A>C;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.13594A>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1935;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0477;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,90;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,G/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant|SO:0001627|intron_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179604366;RS_dbsnp_common_v150_hg19_refseq=,2562829;Read_count=,82;Read_coverage=,185;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9526875142804848;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,95;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0174;SF=14,19,25,29;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.961398|.|0.0386016;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128080a05150537000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.0102041;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0583333;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.182927;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.202381;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.0113636;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.2;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.166667;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.17;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.0227273;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.0;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon45:c.A12505C:p.T4169P,TTN:NM_001256850:exon46:c.A12643C:p.T4215P,TTN:NM_133432:exon46:c.A12880C:p.T4294P,TTN:NM_133437:exon46:c.A13081C:p.T4361P,TTN:NM_001267550:exon48:c.A13594C:p.T4532P;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0343;esp6500siv2_ea=0.0435;esp6500siv2_all=0.0343;esp6500siv2_ea=0.0435;1000g2015aug_all=0.0760783;avsnp147=rs2562829;Kaviar_AF=0.0690547;Kaviar_AC=10676;Kaviar_AN=154602;ExAC_ALL=0.0723;ExAC_AFR=0.0102;ExAC_AMR=0.2596;ExAC_EAS=0.2127;ExAC_FIN=0.0574;ExAC_NFE=0.0459;ExAC_OTH=0.0489;ExAC_SAS=0.0190;CLNALLELEID=57002;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.244;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=0.24;FATHMM_pred=T;PROVEAN_score=-0.69;PROVEAN_pred=N;VEST3_score=0.19;CADD_raw=-0.781;CADD_phred=0.047;DANN_score=0.623;fathmm-MKL_coding_score=0.247;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.067;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=-3.84;phyloP7way_vertebrate=0.046;phyloP20way_mammalian=-1.297;phastCons7way_vertebrate=0.021;phastCons20way_mammalian=0.031;SiPhy_29way_logOdds=10.651;GDI_full_10282015=.;dpsi_max_tissue=-0.1465;dpsi_zscore=-0.573;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0793;gnomAD_exome_AFR=0.0108;gnomAD_exome_AMR=0.2423;gnomAD_exome_ASJ=0.0485;gnomAD_exome_EAS=0.2079;gnomAD_exome_FIN=0.0536;gnomAD_exome_NFE=0.0445;gnomAD_exome_OTH=0.0705;gnomAD_exome_SAS=0.0191;gnomAD_genome_ALL=0.0489;gnomAD_genome_AFR=0.0132;gnomAD_genome_AMR=0.2005;gnomAD_genome_ASJ=0.0530;gnomAD_genome_EAS=0.1860;gnomAD_genome_FIN=0.0601;gnomAD_genome_NFE=0.0440;gnomAD_genome_OTH=0.0479;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . . . . . . 1:178:0,81 . . . . 1:116:0,51 . . . . . 1:99:0,48 . . . 1:158:0,81 . . . . . . . . . . . . 2 179604742 47836;rs1883084 G A 200.00 . #_unique_end_positions=,59;#_unique_start_positions=,48;AC=4;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0045;AF_ESP_clinvar_20171029_hg19=,0.0345;AF_EXAC_clinvar_20171029_hg19=,0.07248;AF_TGP_clinvar_20171029_hg19=,0.0767;ALLELEID_clinvar_20171029_hg19=,57000;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1700;AN=4;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.98;CAF_dbsnp_common_v150_hg19_refseq=,0.9233|0.07668;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179604742G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.12267C>T|_NM_001267550.2:c.13218C>T|_NM_003319.4:c.12129C>T|_NM_133378.4:c.10361-1655C>T|_NM_133432.3:c.12504C>T|_NM_133437.4:c.12705C>T;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.13218C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1935;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0477;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,161;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001627|intron_variant|SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179604742;RS_dbsnp_common_v150_hg19_refseq=,1883084;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,107;Read_coverage=,292;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9021700835165135;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,131;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0174;SF=14,19,25,29;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.96078|0.0392197;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128080305150536000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.575;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon45:c.C12129T:p.A4043A,TTN:NM_001256850:exon46:c.C12267T:p.A4089A,TTN:NM_133432:exon46:c.C12504T:p.A4168A,TTN:NM_133437:exon46:c.C12705T:p.A4235A,TTN:NM_001267550:exon48:c.C13218T:p.A4406A;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0345;esp6500siv2_ea=0.0433;esp6500siv2_all=0.0345;esp6500siv2_ea=0.0433;1000g2015aug_all=0.0766773;avsnp147=rs1883084;Kaviar_AF=0.0696433;Kaviar_AC=10767;Kaviar_AN=154602;ExAC_ALL=0.0725;ExAC_AFR=0.0126;ExAC_AMR=0.2596;ExAC_EAS=0.2123;ExAC_FIN=0.0574;ExAC_NFE=0.0459;ExAC_OTH=0.0490;ExAC_SAS=0.0190;CLNALLELEID=57000;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0852;dpsi_zscore=0.436;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0794;gnomAD_exome_AFR=0.0134;gnomAD_exome_AMR=0.2423;gnomAD_exome_ASJ=0.0485;gnomAD_exome_EAS=0.2079;gnomAD_exome_FIN=0.0536;gnomAD_exome_NFE=0.0444;gnomAD_exome_OTH=0.0704;gnomAD_exome_SAS=0.0191;gnomAD_genome_ALL=0.0498;gnomAD_genome_AFR=0.0163;gnomAD_genome_AMR=0.2005;gnomAD_genome_ASJ=0.0530;gnomAD_genome_EAS=0.1858;gnomAD_genome_FIN=0.0602;gnomAD_genome_NFE=0.0441;gnomAD_genome_OTH=0.0480;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . . . . . . 1:252:0,95 . . . . 1:149:0,68 . . . . . 1:149:0,75 . . . 1:203:0,98 . . . . . . . . . . . . 2 179605180 47830;rs746578 C T,A 200.00 . #_unique_end_positions=,54;#_unique_start_positions=,43;AC=15,4;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1846;AF_ESP_clinvar_20171029_hg19=,0.1353;AF_EXAC_clinvar_20171029_hg19=,0.16458;AF_TGP_clinvar_20171029_hg19=,0.2388;ALLELEID_clinvar_20171029_hg19=,56994;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1585;AN=19;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.13;CAF_dbsnp_common_v150_hg19_refseq=,0.6851|0.07608|0.2388;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179605180C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.11829G>A|_NM_001267550.2:c.12780G>A|_NM_003319.4:c.11691G>A|_NM_133378.4:c.10361-2093G>A|_NM_133432.3:c.12066G>A|_NM_133437.4:c.12267G>A;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.12780G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4702;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1382;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,116;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001627|intron_variant|SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179605180;RS_dbsnp_common_v150_hg19_refseq=,746578;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,90;Read_coverage=,187;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.7748524323188091;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,71;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2342;SF=0,1,5,10,12,14,15,16,19,20,25,27,28,29,35,36,40;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05012808030515053e000101;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.001;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon45:c.G11691A:p.A3897A,TTN:NM_001256850:exon46:c.G11829A:p.A3943A,TTN:NM_133432:exon46:c.G12066A:p.A4022A,TTN:NM_133437:exon46:c.G12267A:p.A4089A,TTN:NM_001267550:exon48:c.G12780A:p.A4260A;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.1353;esp6500siv2_ea=0.1283;esp6500siv2_all=0.1353;esp6500siv2_ea=0.1283;1000g2015aug_all=0.238818;avsnp147=rs746578;Kaviar_AF=0.158594;Kaviar_AC=24519;Kaviar_AN=154602;ExAC_ALL=0.1646;ExAC_AFR=0.1573;ExAC_AMR=0.1421;ExAC_EAS=0.4573;ExAC_FIN=0.0926;ExAC_NFE=0.1283;ExAC_OTH=0.1513;ExAC_SAS=0.2104;CLNALLELEID=56994;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0489;dpsi_zscore=-0.260;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1630;gnomAD_exome_AFR=0.1612;gnomAD_exome_AMR=0.1426;gnomAD_exome_ASJ=0.1141;gnomAD_exome_EAS=0.4611;gnomAD_exome_FIN=0.0938;gnomAD_exome_NFE=0.1301;gnomAD_exome_OTH=0.1485;gnomAD_exome_SAS=0.2072;gnomAD_genome_ALL=0.1510;gnomAD_genome_AFR=0.1589;gnomAD_genome_AMR=0.1587;gnomAD_genome_ASJ=0.0993;gnomAD_genome_EAS=0.4577;gnomAD_genome_FIN=0.0805;gnomAD_genome_NFE=0.1324;gnomAD_genome_OTH=0.1319;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon45:c.G11691T:p.A3897A,TTN:NM_001256850:exon46:c.G11829T:p.A3943A,TTN:NM_133432:exon46:c.G12066T:p.A4022A,TTN:NM_133437:exon46:c.G12267T:p.A4089A,TTN:NM_001267550:exon48:c.G12780T:p.A4260A;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.0760783;avsnp147=rs746578;Kaviar_AF=0.0669526;Kaviar_AC=10351;Kaviar_AN=154602;ExAC_ALL=0.0720;ExAC_AFR=0.0102;ExAC_AMR=0.2586;ExAC_EAS=0.2122;ExAC_FIN=0.0574;ExAC_NFE=0.0459;ExAC_OTH=0.0471;ExAC_SAS=0.0190;CLNALLELEID=56995;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0453;dpsi_zscore=-0.244;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0790;gnomAD_exome_AFR=0.0108;gnomAD_exome_AMR=0.2417;gnomAD_exome_ASJ=0.0484;gnomAD_exome_EAS=0.2075;gnomAD_exome_FIN=0.0534;gnomAD_exome_NFE=0.0443;gnomAD_exome_OTH=0.0702;gnomAD_exome_SAS=0.0190;gnomAD_genome_ALL=0.0490;gnomAD_genome_AFR=0.0131;gnomAD_genome_AMR=0.2005;gnomAD_genome_ASJ=0.0530;gnomAD_genome_EAS=0.1869;gnomAD_genome_FIN=0.0601;gnomAD_genome_NFE=0.0442;gnomAD_genome_OTH=0.0481;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-10 GT:DP:CLCAD2 1:164:0,83 1:175:0,70 . . . 1:148:0,76 . . . . 1:215:0,112 . 1:200:0,103 . 2:222:0,92 1:221:0,104 1:161:0,84 . . 2/1:138:0,66,71 1:141:0,58 . . . . 2:147:0,63 . 1:235:0,120 1:259:0,131 2:232:0,104 . . . . . 1/1:202:0,202 1:170:0,93 . . . 1:183:0,75 . 2 179605705 47824;rs2742357 A G 200.00 . #_unique_end_positions=,58;#_unique_start_positions=,48;AC=4;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0023;AF_ESP_clinvar_20171029_hg19=,0.0344;AF_EXAC_clinvar_20171029_hg19=,0.07229;AF_TGP_clinvar_20171029_hg19=,0.0761;ALLELEID_clinvar_20171029_hg19=,56988;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1700;AN=4;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.02;CAF_dbsnp_common_v150_hg19_refseq=,0.9239|0.07608;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179605705A>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.11304T>C|_NM_001267550.2:c.12255T>C|_NM_003319.4:c.11166T>C|_NM_133378.4:c.10361-2618T>C|_NM_133432.3:c.11541T>C|_NM_133437.4:c.11742T>C;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.12255T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1935;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0477;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,98;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001627|intron_variant|SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179605705;RS_dbsnp_common_v150_hg19_refseq=,2742357;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,93;Read_coverage=,211;Read_direction_test_probability=,0.9908601335232028;Read_position_test_probability=,0.9527973512221253;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,113;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0174;SF=14,19,25,29;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.961398|0.0386016;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128080305150537000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0619469;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.182927;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.205882;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.0113636;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.209302;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.19186;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.17;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.0227273;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.946;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon45:c.T11166C:p.I3722I,TTN:NM_001256850:exon46:c.T11304C:p.I3768I,TTN:NM_133432:exon46:c.T11541C:p.I3847I,TTN:NM_133437:exon46:c.T11742C:p.I3914I,TTN:NM_001267550:exon48:c.T12255C:p.I4085I;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0344;esp6500siv2_ea=0.0437;esp6500siv2_all=0.0344;esp6500siv2_ea=0.0437;1000g2015aug_all=0.0760783;avsnp147=rs2742357;Kaviar_AF=0.0694299;Kaviar_AC=10734;Kaviar_AN=154602;ExAC_ALL=0.0723;ExAC_AFR=0.0102;ExAC_AMR=0.2597;ExAC_EAS=0.2128;ExAC_FIN=0.0574;ExAC_NFE=0.0459;ExAC_OTH=0.0489;ExAC_SAS=0.0189;CLNALLELEID=56988;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0659;dpsi_zscore=-0.332;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0793;gnomAD_exome_AFR=0.0108;gnomAD_exome_AMR=0.2423;gnomAD_exome_ASJ=0.0484;gnomAD_exome_EAS=0.2082;gnomAD_exome_FIN=0.0536;gnomAD_exome_NFE=0.0444;gnomAD_exome_OTH=0.0705;gnomAD_exome_SAS=0.0190;gnomAD_genome_ALL=0.0489;gnomAD_genome_AFR=0.0132;gnomAD_genome_AMR=0.2005;gnomAD_genome_ASJ=0.0530;gnomAD_genome_EAS=0.1851;gnomAD_genome_FIN=0.0601;gnomAD_genome_NFE=0.0442;gnomAD_genome_OTH=0.0480;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . . . . . . 1:197:0,90 . . . . 1:129:0,45 . . . . . 1:139:0,58 . . . 1:168:0,75 . . . . . . . . . . . . 2 179605725 47823;rs34070843 T C 200.00 . #_unique_end_positions=,53;#_unique_start_positions=,37;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0144;AF_EXAC_clinvar_20171029_hg19=,0.01789;AF_TGP_clinvar_20171029_hg19=,0.0162;ALLELEID_clinvar_20171029_hg19=,56987;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0202;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001254479.2:p.Ile4079Val|_NP_003310.4:p.Ile3716Val|_NP_001243779.1:p.Ile3762Val|_NP_597681.4:p.Ile3908Val|_NP_597676.3:p.Ile3841Val;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Ile4079Val;BaseQRankSum=,0.26;CAF_dbsnp_common_v150_hg19_refseq=,0.9838|0.01617;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1837342|OMIM:608807|Orphanet:ORPHA140922|MedGen:C1858763|OMIM:604145|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Limb-girdle_muscular_dystrophy|_type_2J|Dilated_cardiomyopathy_1G|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179605725T>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.11284A>G|_NM_001267550.2:c.12235A>G|_NM_003319.4:c.11146A>G|_NM_133378.4:c.10361-2638A>G|_NM_133432.3:c.11521A>G|_NM_133437.4:c.11722A>G;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.12235A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0268;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,65;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant|SO:0001627|intron_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179605725;RS_dbsnp_common_v150_hg19_refseq=,34070843;Read_count=,72;Read_coverage=,153;Read_direction_test_probability=,0.8760799454477345;Read_position_test_probability=,0.8745731194484766;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,88;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0409;SF=6;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.987362|0.0126382;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128080a05140436000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.023;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon45:c.A11146G:p.I3716V,TTN:NM_001256850:exon46:c.A11284G:p.I3762V,TTN:NM_133432:exon46:c.A11521G:p.I3841V,TTN:NM_133437:exon46:c.A11722G:p.I3908V,TTN:NM_001267550:exon48:c.A12235G:p.I4079V;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0144;esp6500siv2_ea=0.0185;esp6500siv2_all=0.0144;esp6500siv2_ea=0.0185;1000g2015aug_all=0.0161741;avsnp147=rs34070843;Kaviar_AF=0.0176582;Kaviar_AC=2730;Kaviar_AN=154602;ExAC_ALL=0.0179;ExAC_AFR=0.0038;ExAC_AMR=0.0147;ExAC_EAS=0.0001;ExAC_FIN=0.0021;ExAC_NFE=0.0184;ExAC_OTH=0.0233;ExAC_SAS=0.0417;CLNALLELEID=56987;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.665;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0.805;MutationAssessor_pred=L;FATHMM_score=0.23;FATHMM_pred=T;PROVEAN_score=-0.22;PROVEAN_pred=N;VEST3_score=0.115;CADD_raw=-1.264;CADD_phred=0.005;DANN_score=0.503;fathmm-MKL_coding_score=0.138;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.022;MetaSVM_pred=T;MetaLR_score=0.057;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=-1.66;phyloP7way_vertebrate=0.938;phyloP20way_mammalian=0.141;phastCons7way_vertebrate=0.964;phastCons20way_mammalian=0.206;SiPhy_29way_logOdds=5.807;GDI_full_10282015=.;dpsi_max_tissue=0.1385;dpsi_zscore=0.589;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0178;gnomAD_exome_AFR=0.0035;gnomAD_exome_AMR=0.0165;gnomAD_exome_ASJ=0.0142;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0.0018;gnomAD_exome_NFE=0.0195;gnomAD_exome_OTH=0.0232;gnomAD_exome_SAS=0.0412;gnomAD_genome_ALL=0.0098;gnomAD_genome_AFR=0.0026;gnomAD_genome_AMR=0.0179;gnomAD_genome_ASJ=0.0199;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0014;gnomAD_genome_NFE=0.0161;gnomAD_genome_OTH=0.0122;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-10 GT:DP:CLCAD2 . . . . . . 1:146:0,70 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2 179605991 47814;rs33971253 G A 200.00 . #_unique_end_positions=,50;#_unique_start_positions=,40;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0090;AF_EXAC_clinvar_20171029_hg19=,0.00704;AF_TGP_clinvar_20171029_hg19=,0.0028;ALLELEID_clinvar_20171029_hg19=,56978;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_597681.4:p.Pro3819Leu|_NP_597676.3:p.Pro3752Leu|_NP_001254479.2:p.Pro3990Leu|_NP_003310.4:p.Pro3627Leu|_NP_001243779.1:p.Pro3673Leu;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Pro3990Leu;BaseQRankSum=,-0.15;CAF_dbsnp_common_v150_hg19_refseq=,0.9972|0.002796;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1837342|OMIM:608807|Orphanet:ORPHA140922|MedGen:C1858763|OMIM:604145|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Limb-girdle_muscular_dystrophy|_type_2J|Dilated_cardiomyopathy_1G|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179605991G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.11018C>T|_NM_001267550.2:c.11969C>T|_NM_003319.4:c.10880C>T|_NM_133378.4:c.10361-2904C>T|_NM_133432.3:c.11255C>T|_NM_133437.4:c.11456C>T;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.11969C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0129;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,73;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant|SO:0001627|intron_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179605991;RS_dbsnp_common_v150_hg19_refseq=,33971253;Read_count=,62;Read_coverage=,128;Read_direction_test_probability=,0.9097106217304891;Read_position_test_probability=,0.7493388558833494;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,55;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;SF=7;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.994471|0.00552923;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050328080a05040536000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.992;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon45:c.C10880T:p.P3627L,TTN:NM_001256850:exon46:c.C11018T:p.P3673L,TTN:NM_133432:exon46:c.C11255T:p.P3752L,TTN:NM_133437:exon46:c.C11456T:p.P3819L,TTN:NM_001267550:exon48:c.C11969T:p.P3990L;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0090;esp6500siv2_ea=0.0118;esp6500siv2_all=0.0090;esp6500siv2_ea=0.0118;1000g2015aug_all=0.00279553;avsnp147=rs33971253;Kaviar_AF=0.007432;Kaviar_AC=1149;Kaviar_AN=154602;ExAC_ALL=0.0070;ExAC_AFR=0.0022;ExAC_AMR=0.0020;ExAC_EAS=0;ExAC_FIN=0.0038;ExAC_NFE=0.0116;ExAC_OTH=0.0022;ExAC_SAS=0.0005;CLNALLELEID=56978;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.264;SIFT_pred=T;Polyphen2_HDIV_score=0.338;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.305;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.18;MutationAssessor_pred=M;FATHMM_score=0.98;FATHMM_pred=T;PROVEAN_score=-4.32;PROVEAN_pred=D;VEST3_score=0.27;CADD_raw=1.510;CADD_phred=13.37;DANN_score=0.711;fathmm-MKL_coding_score=0.969;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.904;MetaSVM_pred=T;MetaLR_score=0.090;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.87;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.991;phastCons20way_mammalian=0.465;SiPhy_29way_logOdds=15.318;GDI_full_10282015=.;dpsi_max_tissue=-0.1295;dpsi_zscore=-0.531;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0066;gnomAD_exome_AFR=0.0026;gnomAD_exome_AMR=0.0032;gnomAD_exome_ASJ=0.0038;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0028;gnomAD_exome_NFE=0.0118;gnomAD_exome_OTH=0.0055;gnomAD_exome_SAS=0.0006;gnomAD_genome_ALL=0.0055;gnomAD_genome_AFR=0.0025;gnomAD_genome_AMR=0.0060;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0020;gnomAD_genome_NFE=0.0087;gnomAD_genome_OTH=0.0031;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-10 GT:DP:CLCAD2 . . . . . . . 1:121:0,61 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2 179606538 47807;rs2627037 G A 185.14 . #_unique_end_positions=,28;#_unique_start_positions=,24;AC=5;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4531;AF_ESP_clinvar_20171029_hg19=,0.1809;AF_EXAC_clinvar_20171029_hg19=,0.18878;AF_TGP_clinvar_20171029_hg19=,0.2732;ALLELEID_clinvar_20171029_hg19=,56971;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3602;AN=5;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001254479.2:p.Pro3808Ser|_NP_001243779.1:p.Pro3491Ser|_NP_597681.4:p.Pro3637Ser|_NP_003310.4:p.Pro3445Ser|_NP_597676.3:p.Pro3570Ser;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Pro3808Ser;BaseQRankSum=,-0.02;CAF_dbsnp_common_v150_hg19_refseq=,0.7268|0.2732;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179606538G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,UniProtKB_(protein):Q8WZ42#VAR_040125;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.10471C>T|_NM_001267550.2:c.11422C>T|_NM_003319.4:c.10333C>T|_NM_133378.4:c.10361-3451C>T|_NM_133432.3:c.10708C>T|_NM_133437.4:c.10909C>T;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.11422C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2133;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0875;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,22;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8986|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant|SO:0001627|intron_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179606538;RS_dbsnp_common_v150_hg19_refseq=,2627037;Read_count=,35;Read_coverage=,74;Read_direction_test_probability=,0.9868947039700763;Read_position_test_probability=,0.9062272613139708;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,52;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2209;SF=14,17,19,25,29;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.751322|0.248678;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050328080a0515053f000101;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.416667;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0863636;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.2125;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.232143;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.166667;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.214286;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.196429;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.420455;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.357143;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.26087;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.0465116;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.431193;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon45:c.C10333T:p.P3445S,TTN:NM_001256850:exon46:c.C10471T:p.P3491S,TTN:NM_133432:exon46:c.C10708T:p.P3570S,TTN:NM_133437:exon46:c.C10909T:p.P3637S,TTN:NM_001267550:exon48:c.C11422T:p.P3808S;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.1808;esp6500siv2_ea=0.0732;esp6500siv2_all=0.1808;esp6500siv2_ea=0.0732;1000g2015aug_all=0.273163;avsnp147=rs2627037;Kaviar_AF=0.165819;Kaviar_AC=25636;Kaviar_AN=154602;ExAC_ALL=0.1888;ExAC_AFR=0.4371;ExAC_AMR=0.4886;ExAC_EAS=0.2539;ExAC_FIN=0.1214;ExAC_NFE=0.0854;ExAC_OTH=0.1643;ExAC_SAS=0.2252;CLNALLELEID=56971;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.974;MutationTaster_pred=P;MutationAssessor_score=-0.805;MutationAssessor_pred=N;FATHMM_score=0.54;FATHMM_pred=T;PROVEAN_score=1.8;PROVEAN_pred=N;VEST3_score=0.05;CADD_raw=1.979;CADD_phred=16.08;DANN_score=0.947;fathmm-MKL_coding_score=0.153;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.976;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=6.07;phyloP7way_vertebrate=0.125;phyloP20way_mammalian=0.202;phastCons7way_vertebrate=0.456;phastCons20way_mammalian=0.459;SiPhy_29way_logOdds=12.404;GDI_full_10282015=.;dpsi_max_tissue=-0.0242;dpsi_zscore=-0.130;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1815;gnomAD_exome_AFR=0.4220;gnomAD_exome_AMR=0.4484;gnomAD_exome_ASJ=0.1041;gnomAD_exome_EAS=0.2331;gnomAD_exome_FIN=0.1107;gnomAD_exome_NFE=0.0740;gnomAD_exome_OTH=0.1500;gnomAD_exome_SAS=0.2127;gnomAD_genome_ALL=0.1922;gnomAD_genome_AFR=0.4170;gnomAD_genome_AMR=0.3897;gnomAD_genome_ASJ=0.1060;gnomAD_genome_EAS=0.2185;gnomAD_genome_FIN=0.1140;gnomAD_genome_NFE=0.0723;gnomAD_genome_OTH=0.1237;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . . . . . . 1:70:0,33 . . 1:103:0,59 . 1:51:0,20 . . . . . 1:76:0,40 . . . 1:74:0,41 . . . . . . . . . . . . 2 179606590 137834;rs72648918 T C 200.00 . #_unique_end_positions=,31;#_unique_start_positions=,24;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0007;AF_EXAC_clinvar_20171029_hg19=,0.00079;AF_TGP_clinvar_20171029_hg19=,0.0006;ALLELEID_clinvar_20171029_hg19=,141537;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0014;AN=1;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.22;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1837342|OMIM:608807|Orphanet:ORPHA140922|MedGen:C1858763|OMIM:604145|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Limb-girdle_muscular_dystrophy|_type_2J|Dilated_cardiomyopathy_1G|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179606590T>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;Coding_region_change=,NM_001256850.1:c.10419A>G|_NM_001267550.2:c.11370A>G|_NM_003319.4:c.10281A>G|_NM_133378.4:c.10361-3503A>G|_NM_133432.3:c.10656A>G|_NM_133437.4:c.10857A>G;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.11370A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0020;Exact_match=,clinvar_20171029_hg19|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,15;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_001256850.1|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8986|rna8987;MC_clinvar_20171029_hg19=,SO:0001627|intron_variant|SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;Read_count=,43;Read_coverage=,77;Read_direction_test_probability=,0.89174894201975;Read_position_test_probability=,0.7876782876633621;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_001256850.1|NM_001267550.2;Reverse_read_coverage=,62;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=1;conservation_score=,0.0;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_001256850.1|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_001256850.1|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon45:c.A10281G:p.Q3427Q,TTN:NM_001256850:exon46:c.A10419G:p.Q3473Q,TTN:NM_133432:exon46:c.A10656G:p.Q3552Q,TTN:NM_133437:exon46:c.A10857G:p.Q3619Q,TTN:NM_001267550:exon48:c.A11370G:p.Q3790Q;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0007;esp6500siv2_ea=0.0010;esp6500siv2_all=0.0007;esp6500siv2_ea=0.0010;1000g2015aug_all=0.000599042;avsnp147=rs72648918;Kaviar_AF=0.0005433;Kaviar_AC=84;Kaviar_AN=154602;ExAC_ALL=0.0008;ExAC_AFR=0.0002;ExAC_AMR=0.0022;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0012;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=141537;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0124;dpsi_zscore=-0.054;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0005;gnomAD_exome_AFR=0.0002;gnomAD_exome_AMR=0.0010;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0008;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0004;gnomAD_genome_AFR=0.0002;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0007;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-4 GT:DP:CLCAD2 . 1:75:0,42 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2 179610510 . G C 200.00 . #_unique_end_positions=,29;#_unique_start_positions=,27;AC=1;AN=1;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;Coding_region_change=,NM_001256850.1:c.10361-3862C>G|_NM_001267550.2:c.11312-3862C>G|_NM_003319.4:c.10223-3862C>G|_NM_133378.4:c.10360+7341C>G|_NM_133379.4:c.16617C>G|_NM_133432.3:c.10598-3862C>G|_NM_133437.4:c.10799-3862C>G;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.11312-3862C>G;Forward_read_coverage=,38;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,C/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_133379.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8988;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;Non-synonymous=,No;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;Read_count=,36;Read_coverage=,77;Read_direction_test_probability=,0.9947373424851897;Read_position_test_probability=,0.9693063867187914;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_133379.4;Reverse_read_coverage=,39;SF=7;conservation_score=,1.0;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_133379.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_novex-3;transcript_id=,NM_133379.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133379:exon46:c.C16617G:p.G5539G;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . 1:71:0,33 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2 179610836 rs141483365 C T 200.00 . #_unique_end_positions=,44;#_unique_start_positions=,32;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0014;AN=1;Amino_acid_change=,NP_596870.2:p.Glu5431Lys;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.29;Coding_region_change=,NM_001256850.1:c.10361-4188G>A|_NM_001267550.2:c.11312-4188G>A|_NM_003319.4:c.10223-4188G>A|_NM_133378.4:c.10360+7015G>A|_NM_133379.4:c.16291G>A|_NM_133432.3:c.10598-4188G>A|_NM_133437.4:c.10799-4188G>A;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.11312-4188G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;Exact_match=,1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,47;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_133379.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8988;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;Read_count=,71;Read_coverage=,143;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9329932523561101;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_133379.4;Reverse_read_coverage=,96;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=10;conservation_score=,0.998;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_133379.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_novex-3;transcript_id=,NM_133379.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133379:exon46:c.G16291A:p.E5431K;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=0.000199681;avsnp147=rs141483365;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;ExAC_ALL=1.651e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.501e-05;ExAC_OTH=0;ExAC_SAS=6.061e-05;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.922;SIFT_pred=T;Polyphen2_HDIV_score=0.625;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.128;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=1.245;MutationAssessor_pred=L;FATHMM_score=-0.23;FATHMM_pred=T;PROVEAN_score=-0.33;PROVEAN_pred=N;VEST3_score=0.186;CADD_raw=0.898;CADD_phred=10.07;DANN_score=0.956;fathmm-MKL_coding_score=0.637;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.975;MetaSVM_pred=T;MetaLR_score=0.148;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.01;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.016;phastCons7way_vertebrate=0.724;phastCons20way_mammalian=0.888;SiPhy_29way_logOdds=7.028;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=8.166e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=9.046e-06;gnomAD_exome_OTH=0;gnomAD_exome_SAS=3.249e-05;gnomAD_genome_ALL=6.468e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.67e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:DP:CLCAD2 . . . . . . . . . . 1:141:0,70 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2 179611711 47786;rs66677602 C A 200.00 . #_unique_end_positions=,62;#_unique_start_positions=,53;AC=4;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0023;AF_ESP_clinvar_20171029_hg19=,0.0332;AF_EXAC_clinvar_20171029_hg19=,0.07265;AF_TGP_clinvar_20171029_hg19=,0.0773;ALLELEID_clinvar_20171029_hg19=,56950;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1700;AN=4;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_596870.2:p.Arg5139Met;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.38;CAF_dbsnp_common_v150_hg19_refseq=,0.9227|0.07728;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179611711C>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.10361-5063G>T|_NM_001267550.2:c.11312-5063G>T|_NM_003319.4:c.10223-5063G>T|_NM_133378.4:c.10360+6140G>T|_NM_133379.4:c.15416G>T|_NM_133432.3:c.10598-5063G>T|_NM_133437.4:c.10799-5063G>T;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.11312-5063G>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1994;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0477;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,112;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,A/C;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_133379.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8988;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant|SO:0001627|intron_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179611711;RS_dbsnp_common_v150_hg19_refseq=,66677602;Read_count=,106;Read_coverage=,215;Read_direction_test_probability=,0.9705286843024625;Read_position_test_probability=,0.989243947889181;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_133379.4;Reverse_read_coverage=,103;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0174;SF=14,19,25,29;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.961467|0.0385329;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050328080a05150436000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.968;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_133379.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_novex-3;transcript_id=,NM_133379.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133379:exon46:c.G15416T:p.R5139M;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0332;esp6500siv2_ea=0.0433;esp6500siv2_all=0.0332;esp6500siv2_ea=0.0433;1000g2015aug_all=0.0772764;avsnp147=rs66677602;Kaviar_AF=0.0696757;Kaviar_AC=10772;Kaviar_AN=154602;ExAC_ALL=0.0727;ExAC_AFR=0.0104;ExAC_AMR=0.2599;ExAC_EAS=0.2222;ExAC_FIN=0.0574;ExAC_NFE=0.0459;ExAC_OTH=0.0496;ExAC_SAS=0.0190;CLNALLELEID=56950;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=0.994;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.847;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_pred=.;MutationTaster_score=0.999;MutationTaster_pred=P;MutationAssessor_score=0.805;MutationAssessor_pred=L;FATHMM_score=-0.55;FATHMM_pred=T;PROVEAN_score=1.14;PROVEAN_pred=N;VEST3_score=0.091;CADD_raw=0.758;CADD_phred=9.203;DANN_score=0.953;fathmm-MKL_coding_score=0.178;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.047;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.19;phyloP7way_vertebrate=-0.011;phyloP20way_mammalian=0.067;phastCons7way_vertebrate=0.930;phastCons20way_mammalian=0.989;SiPhy_29way_logOdds=9.092;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0799;gnomAD_exome_AFR=0.0108;gnomAD_exome_AMR=0.2422;gnomAD_exome_ASJ=0.0485;gnomAD_exome_EAS=0.2178;gnomAD_exome_FIN=0.0537;gnomAD_exome_NFE=0.0444;gnomAD_exome_OTH=0.0705;gnomAD_exome_SAS=0.0192;gnomAD_genome_ALL=0.0495;gnomAD_genome_AFR=0.0131;gnomAD_genome_AMR=0.2010;gnomAD_genome_ASJ=0.0530;gnomAD_genome_EAS=0.1986;gnomAD_genome_FIN=0.0599;gnomAD_genome_NFE=0.0441;gnomAD_genome_OTH=0.0479;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . . . . . . 1:199:0,98 . . . . 1:139:0,77 . . . . . 1:121:0,54 . . . 1:176:0,91 . . . . . . . . . . . . 2 179612214 . A G 200.00 . #_unique_end_positions=,41;#_unique_start_positions=,35;AC=1;AN=1;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.17;Coding_region_change=,NM_001256850.1:c.10361-5566T>C|_NM_001267550.2:c.11312-5566T>C|_NM_003319.4:c.10223-5566T>C|_NM_133378.4:c.10360+5637T>C|_NM_133379.4:c.14913T>C|_NM_133432.3:c.10598-5566T>C|_NM_133437.4:c.10799-5566T>C;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.11312-5566T>C;Forward_read_coverage=,70;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_133379.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8988;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;Non-synonymous=,No;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;Read_count=,63;Read_coverage=,151;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.991292957230724;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_133379.4;Reverse_read_coverage=,81;SF=7;conservation_score=,0.992;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_133379.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_novex-3;transcript_id=,NM_133379.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133379:exon46:c.T14913C:p.I4971I;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . 1:135:0,58 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2 179612383 47775;rs72648907 C T 200.00 . #_unique_end_positions=,55;#_unique_start_positions=,36;AC=4;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0023;AF_ESP_clinvar_20171029_hg19=,0.0424;AF_EXAC_clinvar_20171029_hg19=,0.03594;AF_TGP_clinvar_20171029_hg19=,0.0146;ALLELEID_clinvar_20171029_hg19=,56939;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0259;AN=4;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_596870.2:p.Arg4915His;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.93;CAF_dbsnp_common_v150_hg19_refseq=,0.9854|0.01458;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179612383C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.10360+5468G>A|_NM_001267550.2:c.11311+5468G>A|_NM_003319.4:c.10222+5468G>A|_NM_133378.4:c.10360+5468G>A|_NM_133379.4:c.14744G>A|_NM_133432.3:c.10597+5468G>A|_NM_133437.4:c.10798+5468G>A;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.11311+5468G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0517;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,88;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_133379.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8988;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant|SO:0001627|intron_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179612383;RS_dbsnp_common_v150_hg19_refseq=,72648907;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,67;Read_coverage=,147;Read_direction_test_probability=,0.9588317138649733;Read_position_test_probability=,0.9198148066741476;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_133379.4;Reverse_read_coverage=,59;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=1,20,25,31;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.973934|0.0260664;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128080a05150536000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.047;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_133379.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_novex-3;transcript_id=,NM_133379.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133379:exon46:c.G14744A:p.R4915H;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0424;esp6500siv2_ea=0.0582;esp6500siv2_all=0.0424;esp6500siv2_ea=0.0582;1000g2015aug_all=0.0145767;avsnp147=rs72648907;Kaviar_AF=0.0379943;Kaviar_AC=5874;Kaviar_AN=154602;ExAC_ALL=0.0359;ExAC_AFR=0.0111;ExAC_AMR=0.0172;ExAC_EAS=0;ExAC_FIN=0.0352;ExAC_NFE=0.0561;ExAC_OTH=0.0364;ExAC_SAS=0.0020;CLNALLELEID=56939;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.422;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=-1.245;MutationAssessor_pred=N;FATHMM_score=0.57;FATHMM_pred=T;PROVEAN_score=-0.1;PROVEAN_pred=N;VEST3_score=0.007;CADD_raw=1.322;CADD_phred=12.38;DANN_score=0.625;fathmm-MKL_coding_score=0.001;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.054;MetaSVM_pred=T;MetaLR_score=0.006;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=1.79;phyloP7way_vertebrate=0.021;phyloP20way_mammalian=-0.239;phastCons7way_vertebrate=0.800;phastCons20way_mammalian=0.011;SiPhy_29way_logOdds=6.346;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0352;gnomAD_exome_AFR=0.0107;gnomAD_exome_AMR=0.0211;gnomAD_exome_ASJ=0.0257;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0373;gnomAD_exome_NFE=0.0580;gnomAD_exome_OTH=0.0351;gnomAD_exome_SAS=0.0021;gnomAD_genome_ALL=0.0339;gnomAD_genome_AFR=0.0109;gnomAD_genome_AMR=0.0276;gnomAD_genome_ASJ=0.0199;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0404;gnomAD_genome_NFE=0.0492;gnomAD_genome_OTH=0.0459;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . 1:142:0,66 . . . . . . . . . . . . . . . . . . 1:150:0,69 . . . . 1:98:0,46 . . . . . 1:79:0,44 . . . . . . . . . . 2 179612883 47769;rs139669372 A G 200.00 . #_unique_end_positions=,35;#_unique_start_positions=,26;AC=2;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0008;AF_ESP_clinvar_20171029_hg19=,0.0095;AF_EXAC_clinvar_20171029_hg19=,0.00710;AF_TGP_clinvar_20171029_hg19=,0.0034;ALLELEID_clinvar_20171029_hg19=,56933;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AN=2;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.62;CAF_dbsnp_common_v150_hg19_refseq=,0.9966|0.003395;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179612883A>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.10360+4968T>C|_NM_001267550.2:c.11311+4968T>C|_NM_003319.4:c.10222+4968T>C|_NM_133378.4:c.10360+4968T>C|_NM_133379.4:c.14244T>C|_NM_133432.3:c.10597+4968T>C|_NM_133437.4:c.10798+4968T>C;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.11311+4968T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0159;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,20;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_133379.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8988;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001627|intron_variant|SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179612883;RS_dbsnp_common_v150_hg19_refseq=,139669372;Read_count=,43;Read_coverage=,83;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.994855479301508;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_133379.4;Reverse_read_coverage=,63;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=23,38;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.990899|0.0091009;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050028080305040436000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.054;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_133379.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_novex-3;transcript_id=,NM_133379.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133379:exon46:c.T14244C:p.L4748L;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0095;esp6500siv2_ea=0.0128;esp6500siv2_all=0.0095;esp6500siv2_ea=0.0128;1000g2015aug_all=0.00339457;avsnp147=rs139669372;Kaviar_AF=0.0076648;Kaviar_AC=1185;Kaviar_AN=154602;ExAC_ALL=0.0071;ExAC_AFR=0.0027;ExAC_AMR=0.0023;ExAC_EAS=0;ExAC_FIN=0.0072;ExAC_NFE=0.0111;ExAC_OTH=0.0055;ExAC_SAS=0.0007;CLNALLELEID=56933;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0077;gnomAD_exome_AFR=0.0025;gnomAD_exome_AMR=0.0033;gnomAD_exome_ASJ=0.0005;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0118;gnomAD_exome_NFE=0.0125;gnomAD_exome_OTH=0.0099;gnomAD_exome_SAS=0.0006;gnomAD_genome_ALL=0.0077;gnomAD_genome_AFR=0.0027;gnomAD_genome_AMR=0.0060;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0100;gnomAD_genome_NFE=0.0111;gnomAD_genome_OTH=0.0061;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . 1:76:0,40 . . . . . . . . . . . . . . 1:80:0,41 . . . 2 179613191 47764;rs140909116 T C 200.00 . #_unique_end_positions=,40;#_unique_start_positions=,28;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0065;AF_EXAC_clinvar_20171029_hg19=,0.00824;AF_TGP_clinvar_20171029_hg19=,0.0026;ALLELEID_clinvar_20171029_hg19=,56928;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0086;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_596870.2:p.Lys4646Glu;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.18;CAF_dbsnp_common_v150_hg19_refseq=,0.9974|0.002596;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179613191T>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.10360+4660A>G|_NM_001267550.2:c.11311+4660A>G|_NM_003319.4:c.10222+4660A>G|_NM_133378.4:c.10360+4660A>G|_NM_133379.4:c.13936A>G|_NM_133432.3:c.10597+4660A>G|_NM_133437.4:c.10798+4660A>G;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.11311+4660A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0040;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,41;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_133379.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8988;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant|SO:0001627|intron_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179613191;RS_dbsnp_common_v150_hg19_refseq=,140909116;Read_count=,44;Read_coverage=,87;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.6316838002696776;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_133379.4;Reverse_read_coverage=,46;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0031;SF=24;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.994746|0.00525448;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128080a05040436000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.003;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_133379.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_novex-3;transcript_id=,NM_133379.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133379:exon46:c.A13936G:p.K4646E;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0065;esp6500siv2_ea=0.0093;esp6500siv2_all=0.0065;esp6500siv2_ea=0.0093;1000g2015aug_all=0.00259585;avsnp147=rs140909116;Kaviar_AF=0.0076196;Kaviar_AC=1178;Kaviar_AN=154602;ExAC_ALL=0.0082;ExAC_AFR=0.0013;ExAC_AMR=0.0049;ExAC_EAS=0;ExAC_FIN=0.0024;ExAC_NFE=0.0107;ExAC_OTH=0.0122;ExAC_SAS=0.0111;CLNALLELEID=56928;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=0.002;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.009;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0.895;MutationAssessor_pred=L;FATHMM_score=-0.17;FATHMM_pred=T;PROVEAN_score=-1.23;PROVEAN_pred=N;VEST3_score=0.161;CADD_raw=0.041;CADD_phred=2.993;DANN_score=0.553;fathmm-MKL_coding_score=0.066;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.008;MetaSVM_pred=T;MetaLR_score=0.096;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=-2.52;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=-0.303;phastCons7way_vertebrate=0.024;phastCons20way_mammalian=0.008;SiPhy_29way_logOdds=6.312;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0081;gnomAD_exome_AFR=0.0011;gnomAD_exome_AMR=0.0044;gnomAD_exome_ASJ=0.0401;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0030;gnomAD_exome_NFE=0.0085;gnomAD_exome_OTH=0.0116;gnomAD_exome_SAS=0.0116;gnomAD_genome_ALL=0.0046;gnomAD_genome_AFR=0.0007;gnomAD_genome_AMR=0.0120;gnomAD_genome_ASJ=0.0397;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0020;gnomAD_genome_NFE=0.0068;gnomAD_genome_OTH=0.0061;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . 1:85:0,44 . . . . . . . . . . . . . . . . . 2 179613651 47756;rs72648904 G A 200.00 . #_unique_end_positions=,21;#_unique_start_positions=,17;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0015;AF_ESP_clinvar_20171029_hg19=,0.0260;AF_EXAC_clinvar_20171029_hg19=,0.02123;AF_TGP_clinvar_20171029_hg19=,0.0110;ALLELEID_clinvar_20171029_hg19=,56920;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0231;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.989|0.01098;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179613651G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.10360+4200C>T|_NM_001267550.2:c.11311+4200C>T|_NM_003319.4:c.10222+4200C>T|_NM_133378.4:c.10360+4200C>T|_NM_133379.4:c.13476C>T|_NM_133432.3:c.10597+4200C>T|_NM_133437.4:c.10798+4200C>T;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.11311+4200C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0239;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,24;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_133379.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8988;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001627|intron_variant|SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179613651;RS_dbsnp_common_v150_hg19_refseq=,72648904;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,22;Read_coverage=,51;Read_direction_test_probability=,0.8466288667532326;Read_position_test_probability=,0.8219242345459357;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_133379.4;Reverse_read_coverage=,27;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0133;SF=39;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.981523|0.0184765;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128080305140436000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.001;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_133379.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_novex-3;transcript_id=,NM_133379.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133379:exon46:c.C13476T:p.D4492D;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0260;esp6500siv2_ea=0.0356;esp6500siv2_all=0.0260;esp6500siv2_ea=0.0356;1000g2015aug_all=0.0109824;avsnp147=rs72648904;Kaviar_AF=0.0222248;Kaviar_AC=3436;Kaviar_AN=154602;ExAC_ALL=0.0212;ExAC_AFR=0.0061;ExAC_AMR=0.0158;ExAC_EAS=0;ExAC_FIN=0.0311;ExAC_NFE=0.0288;ExAC_OTH=0.0310;ExAC_SAS=0.0104;CLNALLELEID=56920;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0231;gnomAD_exome_AFR=0.0065;gnomAD_exome_AMR=0.0161;gnomAD_exome_ASJ=0.0088;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0.0364;gnomAD_exome_NFE=0.0331;gnomAD_exome_OTH=0.0250;gnomAD_exome_SAS=0.0104;gnomAD_genome_ALL=0.0205;gnomAD_genome_AFR=0.0070;gnomAD_genome_AMR=0.0084;gnomAD_genome_ASJ=0.0099;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0321;gnomAD_genome_NFE=0.0291;gnomAD_genome_OTH=0.0153;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:48:0,22 . . 2 179614952 47743;rs10803917 A G 179.15 . #_unique_end_positions=,73;#_unique_start_positions=,58;AC=84;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9070;ALLELEID_clinvar_20171029_hg19=,56907;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9971;AN=84;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;CAF_dbsnp_common_v150_hg19_refseq=,0.02496|0.975;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179614952A>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.10360+2899T>C|_NM_001267550.2:c.11311+2899T>C|_NM_003319.4:c.10222+2899T>C|_NM_133378.4:c.10360+2899T>C|_NM_133379.4:c.12175T>C|_NM_133432.3:c.10597+2899T>C|_NM_133437.4:c.10798+2899T>C;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.11311+2899T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,1.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,1.0000;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,61;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,G/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_133379.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8988;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001627|intron_variant|SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,156.53559774527022;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179614952;RS_dbsnp_common_v150_hg19_refseq=,10803917;Read_count=,117;Read_coverage=,117;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_133379.4;Reverse_read_coverage=,56;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,1.0000;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.0388076|0.961192;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05012808030515053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.908163;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,1;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,1;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,1;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.88764;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.884615;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.916667;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.182;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_133379.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_novex-3;transcript_id=,NM_133379.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133379:exon46:c.T12175C:p.L4059L;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.9725;esp6500siv2_ea=0.9992;esp6500siv2_all=0.9725;esp6500siv2_ea=0.9992;1000g2015aug_all=0.97504;avsnp147=rs10803917;Kaviar_AF=0.979502;Kaviar_AC=151433;Kaviar_AN=154602;ExAC_ALL=0.9926;ExAC_AFR=0.9200;ExAC_AMR=0.9970;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9997;ExAC_OTH=0.9912;ExAC_SAS=0.9998;CLNALLELEID=56907;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.9945;gnomAD_exome_AFR=0.9208;gnomAD_exome_AMR=0.9971;gnomAD_exome_ASJ=1;gnomAD_exome_EAS=1;gnomAD_exome_FIN=1;gnomAD_exome_NFE=0.9998;gnomAD_exome_OTH=0.9965;gnomAD_exome_SAS=0.9998;gnomAD_genome_ALL=0.9759;gnomAD_genome_AFR=0.9159;gnomAD_genome_AMR=0.9940;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=1;gnomAD_genome_FIN=1;gnomAD_genome_NFE=0.9999;gnomAD_genome_OTH=0.9969;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1/1:104:0,104 1/1:83:0,83 1/1:92:0,92 1/1:95:0,94 1/1:70:0,70 1/1:67:0,67 1/1:59:0,59 1/1:68:0,68 1/1:84:0,84 1/1:63:0,63 1/1:96:0,96 1/1:76:0,75 1/1:115:0,114 1/1:76:0,76 1/1:117:0,117 1/1:96:0,96 1/1:100:0,100 1/1:82:0,82 1/1:69:0,69 1/1:75:0,75 1/1:102:0,102 1/1:142:0,142 1/1:88:0,88 1/1:93:0,93 1/1:106:0,106 1/1:61:0,61 1/1:72:0,72 1/1:116:0,116 1/1:114:0,114 1/1:100:0,100 1/1:108:0,108 1/1:86:0,86 1/1:83:0,83 1/1:60:0,60 1/1:96:0,96 1/1:81:0,81 1/1:97:0,97 1/1:85:0,85 1/1:73:0,73 1/1:103:0,103 1/1:95:0,95 1/1:102:0,102 2 179615887 47736;rs922984 T C 188.90 . #_unique_end_positions=,47;#_unique_start_positions=,38;AC=79;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5749;ALLELEID_clinvar_20171029_hg19=,56900;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6412;AN=79;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_596870.2:p.Asp3747Gly;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.15;CAF_dbsnp_common_v150_hg19_refseq=,0.267|0.733;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179615887T>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.10360+1964A>G|_NM_001267550.2:c.11311+1964A>G|_NM_003319.4:c.10222+1964A>G|_NM_133378.4:c.10360+1964A>G|_NM_133379.4:c.11240A>G|_NM_133432.3:c.10597+1964A>G|_NM_133437.4:c.10798+1964A>G;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.11311+1964A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7758;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9135;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,38;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,C/C;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_133379.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8988;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant|SO:0001627|intron_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179615887;RS_dbsnp_common_v150_hg19_refseq=,922984;Read_count=,63;Read_coverage=,63;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_133379.4;Reverse_read_coverage=,25;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7822;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.233636|0.766364;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128080a0517053f000101;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.595745;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.925;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.766667;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.795455;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.730216;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.940476;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.559633;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.816;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_133379.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_novex-3;transcript_id=,NM_133379.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133379:exon46:c.A11240G:p.D3747G;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.8181;esp6500siv2_ea=0.9303;esp6500siv2_all=0.8181;esp6500siv2_ea=0.9303;1000g2015aug_all=0.733027;avsnp147=rs922984;Kaviar_AF=0.828586;Kaviar_AC=128101;Kaviar_AN=154602;ExAC_ALL=0.8271;ExAC_AFR=0.6001;ExAC_AMR=0.5361;ExAC_EAS=0.7529;ExAC_FIN=0.8854;ExAC_NFE=0.9251;ExAC_OTH=0.8473;ExAC_SAS=0.7889;CLNALLELEID=56900;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.197;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=0.36;FATHMM_pred=T;PROVEAN_score=-1.4;PROVEAN_pred=N;VEST3_score=0.012;CADD_raw=0.654;CADD_phred=8.526;DANN_score=0.992;fathmm-MKL_coding_score=0.145;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.941;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=4.54;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=1.061;phastCons7way_vertebrate=0.307;phastCons20way_mammalian=0.091;SiPhy_29way_logOdds=5.885;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.8208;gnomAD_exome_AFR=0.6002;gnomAD_exome_AMR=0.5556;gnomAD_exome_ASJ=0.8914;gnomAD_exome_EAS=0.7553;gnomAD_exome_FIN=0.8909;gnomAD_exome_NFE=0.9291;gnomAD_exome_OTH=0.8518;gnomAD_exome_SAS=0.7887;gnomAD_genome_ALL=0.8154;gnomAD_genome_AFR=0.6059;gnomAD_genome_AMR=0.6139;gnomAD_genome_ASJ=0.9007;gnomAD_genome_EAS=0.7732;gnomAD_genome_FIN=0.8874;gnomAD_genome_NFE=0.9301;gnomAD_genome_OTH=0.8822;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1/1:58:0,58 1/1:84:0,84 1/1:68:0,68 1/1:74:0,74 1/1:81:0,81 1/1:53:0,53 1/1:46:0,46 1/1:69:0,69 1/1:69:0,69 1/1:70:0,70 1/1:84:0,84 1/1:58:0,58 1/1:75:0,75 1/1:71:0,71 1:113:0,58 1/1:81:0,81 1/1:70:0,70 1:89:0,41 1/1:70:0,70 1:66:0,38 1/1:107:0,107 1/1:87:0,87 1/1:59:0,59 1/1:63:0,63 1/1:76:0,76 1:67:0,27 1/1:66:0,66 1/1:111:0,111 1/1:103:0,103 1:99:0,43 1/1:70:0,70 1/1:60:0,60 1/1:57:0,57 1/1:49:0,49 1/1:89:0,89 1/1:63:0,63 1/1:73:0,73 1/1:68:0,68 1/1:57:0,57 1/1:72:0,72 1/1:76:0,76 1/1:77:0,77 2 179615931 47735;rs922985 C G 183.93 . #_unique_end_positions=,41;#_unique_start_positions=,33;AC=84;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9070;ALLELEID_clinvar_20171029_hg19=,56899;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9971;AN=84;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_596870.2:p.Leu3732Phe;Amino_acid_change_in_longest_transcript=,;CAF_dbsnp_common_v150_hg19_refseq=,0.02496|0.975;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179615931C>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.10360+1920G>C|_NM_001267550.2:c.11311+1920G>C|_NM_003319.4:c.10222+1920G>C|_NM_133378.4:c.10360+1920G>C|_NM_133379.4:c.11196G>C|_NM_133432.3:c.10597+1920G>C|_NM_133437.4:c.10798+1920G>C;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.11311+1920G>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,1.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,1.0000;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,40;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,G/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_133379.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8988;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant|SO:0001627|intron_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179615931;RS_dbsnp_common_v150_hg19_refseq=,922985;Read_count=,55;Read_coverage=,55;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_133379.4;Reverse_read_coverage=,15;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,1.0000;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.038842|0.961158;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128080a0515053f000101;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,1;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,1;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,1;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.916667;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.346;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_133379.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_novex-3;transcript_id=,NM_133379.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133379:exon46:c.G11196C:p.L3732F;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.9725;esp6500siv2_ea=0.9992;esp6500siv2_all=0.9725;esp6500siv2_ea=0.9992;1000g2015aug_all=0.97504;avsnp147=rs922985;Kaviar_AF=0.971107;Kaviar_AC=150135;Kaviar_AN=154602;ExAC_ALL=0.9926;ExAC_AFR=0.9195;ExAC_AMR=0.9971;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9997;ExAC_OTH=0.9912;ExAC_SAS=0.9998;CLNALLELEID=56899;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.103;SIFT_pred=T;Polyphen2_HDIV_score=0.003;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.004;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.345;MutationAssessor_pred=N;FATHMM_score=0.25;FATHMM_pred=T;PROVEAN_score=-0.12;PROVEAN_pred=N;VEST3_score=0.008;CADD_raw=0.163;CADD_phred=4.287;DANN_score=0.961;fathmm-MKL_coding_score=0.089;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.973;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=3.9;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.428;phastCons20way_mammalian=0.322;SiPhy_29way_logOdds=5.488;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.9945;gnomAD_exome_AFR=0.9206;gnomAD_exome_AMR=0.9972;gnomAD_exome_ASJ=1;gnomAD_exome_EAS=1;gnomAD_exome_FIN=1;gnomAD_exome_NFE=0.9998;gnomAD_exome_OTH=0.9965;gnomAD_exome_SAS=0.9998;gnomAD_genome_ALL=0.9762;gnomAD_genome_AFR=0.9169;gnomAD_genome_AMR=0.9940;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=1;gnomAD_genome_FIN=1;gnomAD_genome_NFE=0.9999;gnomAD_genome_OTH=0.9969;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1/1:53:0,53 1/1:79:0,79 1/1:62:0,62 1/1:75:0,75 1/1:72:0,72 1/1:52:0,52 1/1:50:0,50 1/1:64:0,64 1/1:68:0,68 1/1:58:0,58 1/1:81:0,81 1/1:68:0,68 1/1:68:0,68 1/1:52:0,52 1/1:106:0,106 1/1:72:0,72 1/1:59:0,59 1/1:89:0,89 1/1:72:0,72 1/1:67:0,67 1/1:92:0,92 1/1:79:0,79 1/1:55:0,55 1/1:67:0,67 1/1:76:0,76 1/1:69:0,69 1/1:60:0,60 1/1:93:0,93 1/1:96:0,96 1/1:92:0,92 1/1:64:0,64 1/1:57:0,57 1/1:57:0,57 1/1:48:0,48 1/1:97:0,97 1/1:59:0,59 1/1:72:0,72 1/1:55:0,55 1/1:58:0,58 1/1:64:0,64 1/1:75:0,75 1/1:79:0,79 2 179615994 47733;rs922986 T C 183.35 . #_unique_end_positions=,43;#_unique_start_positions=,38;AC=84;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9070;ALLELEID_clinvar_20171029_hg19=,56897;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9971;AN=84;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;CAF_dbsnp_common_v150_hg19_refseq=,0.02496|0.975;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179615994T>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.10360+1857A>G|_NM_001267550.2:c.11311+1857A>G|_NM_003319.4:c.10222+1857A>G|_NM_133378.4:c.10360+1857A>G|_NM_133379.4:c.11133A>G|_NM_133432.3:c.10597+1857A>G|_NM_133437.4:c.10798+1857A>G;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.11311+1857A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,1.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,1.0000;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,33;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,C/C;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_133379.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8988;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001627|intron_variant|SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179615994;RS_dbsnp_common_v150_hg19_refseq=,922986;Read_count=,58;Read_coverage=,58;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_133379.4;Reverse_read_coverage=,25;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,1.0000;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.038842|0.961158;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05012808030515053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.908163;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,1;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,1;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,1;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.882023;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.99;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.884615;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.929204;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.0;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_133379.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_novex-3;transcript_id=,NM_133379.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133379:exon46:c.A11133G:p.T3711T;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.9725;esp6500siv2_ea=0.9992;esp6500siv2_all=0.9725;esp6500siv2_ea=0.9992;1000g2015aug_all=0.97504;avsnp147=rs922986;Kaviar_AF=0.979276;Kaviar_AC=151398;Kaviar_AN=154602;ExAC_ALL=0.9926;ExAC_AFR=0.9200;ExAC_AMR=0.9970;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9997;ExAC_OTH=0.9912;ExAC_SAS=0.9997;CLNALLELEID=56897;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.9944;gnomAD_exome_AFR=0.9208;gnomAD_exome_AMR=0.9971;gnomAD_exome_ASJ=1;gnomAD_exome_EAS=1;gnomAD_exome_FIN=1;gnomAD_exome_NFE=0.9998;gnomAD_exome_OTH=0.9965;gnomAD_exome_SAS=0.9997;gnomAD_genome_ALL=0.9760;gnomAD_genome_AFR=0.9163;gnomAD_genome_AMR=0.9940;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=1;gnomAD_genome_FIN=1;gnomAD_genome_NFE=0.9998;gnomAD_genome_OTH=0.9969;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1/1:56:0,56 1/1:61:0,61 1/1:52:0,52 1/1:56:0,56 1/1:61:0,61 1/1:43:0,43 1/1:45:0,45 1/1:57:0,57 1/1:65:0,65 1/1:56:0,56 1/1:74:0,74 1/1:45:0,45 1/1:61:0,61 1/1:46:0,46 1/1:74:0,74 1/1:59:0,59 1/1:68:0,68 1/1:69:0,69 1/1:58:0,58 1/1:55:0,55 1/1:70:0,70 1/1:70:0,70 1/1:41:0,41 1/1:49:0,49 1/1:63:0,63 1/1:49:0,49 1/1:40:0,40 1/1:75:0,75 1/1:93:0,93 1/1:60:0,60 1/1:68:0,68 1/1:50:0,50 1/1:47:0,47 1/1:39:0,39 1/1:72:0,72 1/1:51:0,51 1/1:57:0,57 1/1:53:0,53 1/1:51:0,51 1/1:50:0,50 1/1:56:0,56 1/1:59:0,59 2 179620951 47852;rs7585334 C T 155.20 . #_unique_end_positions=,33;#_unique_start_positions=,30;AC=79;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.8298;ALLELEID_clinvar_20171029_hg19=,57016;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6700;AN=79;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001254479.2:p.Gly3751Asp|_NP_597681.4:p.Gly3580Asp;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Gly3751Asp;BaseQRankSum=,-0.02;CAF_dbsnp_common_v150_hg19_refseq=,0.1955|0.8045;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179620951C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.10303+2760G>A|_NM_001267550.2:c.11252G>A|_NM_003319.4:c.10165+2760G>A|_NM_133378.4:c.10303+2760G>A|_NM_133379.4:c.10303+2760G>A|_NM_133432.3:c.10540+1318G>A|_NM_133437.4:c.10739G>A;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.11252G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7758;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9145;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,31;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,T/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_133437.4|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8983|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant|SO:0001627|intron_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179620951;RS_dbsnp_common_v150_hg19_refseq=,7585334;Read_count=,46;Read_coverage=,46;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_133437.4|NM_001267550.2;Reverse_read_coverage=,15;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7822;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.129954|0.870046;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128080a0515053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.795918;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.925;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.756098;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.770588;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.829545;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.766667;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.8;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.837079;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.68;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.874126;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.954545;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.875;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.984;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_133437.4|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_novex-2|titin|_transcript_variant_IC;transcript_id=,NM_133437.4|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133437:exon44:c.G10739A:p.G3580D,TTN:NM_001267550:exon46:c.G11252A:p.G3751D;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.9028;esp6500siv2_ea=0.9321;esp6500siv2_all=0.9028;esp6500siv2_ea=0.9321;1000g2015aug_all=0.804513;avsnp147=rs7585334;Kaviar_AF=0.845047;Kaviar_AC=130646;Kaviar_AN=154602;ExAC_ALL=0.8508;ExAC_AFR=0.8372;ExAC_AMR=0.5495;ExAC_EAS=0.7527;ExAC_FIN=0.8849;ExAC_NFE=0.9274;ExAC_OTH=0.8652;ExAC_SAS=0.7953;CLNALLELEID=57016;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.005;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.01;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.551;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=1.09;FATHMM_pred=T;PROVEAN_score=-0.84;PROVEAN_pred=N;VEST3_score=0.106;CADD_raw=3.252;CADD_phred=22.8;DANN_score=0.907;fathmm-MKL_coding_score=0.970;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.021;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=4.2;phyloP7way_vertebrate=0.824;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.228;phastCons20way_mammalian=0.525;SiPhy_29way_logOdds=13.065;GDI_full_10282015=.;dpsi_max_tissue=1.4617;dpsi_zscore=1.763;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.8387;gnomAD_exome_AFR=0.8398;gnomAD_exome_AMR=0.5677;gnomAD_exome_ASJ=0.9142;gnomAD_exome_EAS=0.7550;gnomAD_exome_FIN=0.8901;gnomAD_exome_NFE=0.9303;gnomAD_exome_OTH=0.8625;gnomAD_exome_SAS=0.7873;gnomAD_genome_ALL=0.8805;gnomAD_genome_AFR=0.8313;gnomAD_genome_AMR=0.6319;gnomAD_genome_ASJ=0.9205;gnomAD_genome_EAS=0.7716;gnomAD_genome_FIN=0.8864;gnomAD_genome_NFE=0.9314;gnomAD_genome_OTH=0.8959;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1/1:44:0,44 1/1:44:0,44 1/1:38:0,38 1/1:44:0,44 1/1:41:0,41 1/1:50:0,50 1/1:18:0,18 1/1:31:0,31 1/1:45:0,45 1/1:32:0,32 1/1:44:0,44 1/1:36:0,36 1/1:44:0,44 1/1:37:0,37 1:67:0,32 1/1:38:0,38 1/1:36:0,36 1:62:0,29 1/1:32:0,32 1:39:0,20 1/1:60:0,60 1/1:40:0,40 1/1:45:0,45 1/1:49:0,48 1/1:44:0,44 1:26:0,15 1/1:44:0,44 1/1:48:0,48 1/1:46:0,46 1:45:0,19 1/1:36:0,36 1/1:27:0,27 1/1:44:0,44 1/1:30:0,30 1/1:34:0,34 1/1:33:0,33 1/1:47:0,47 1/1:36:0,36 1/1:35:0,35 1/1:58:0,58 1/1:47:0,47 1/1:43:0,43 2 179621184 47850;rs72955212 G A 200.00 . #_unique_end_positions=,44;#_unique_start_positions=,24;AC=3;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0107;AF_EXAC_clinvar_20171029_hg19=,0.01139;AF_TGP_clinvar_20171029_hg19=,0.0052;ALLELEID_clinvar_20171029_hg19=,57014;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0043;AN=3;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.22;CAF_dbsnp_common_v150_hg19_refseq=,0.9948|0.005192;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1837342|OMIM:608807|Orphanet:ORPHA140922|MedGen:C1858763|OMIM:604145|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Limb-girdle_muscular_dystrophy|_type_2J|Dilated_cardiomyopathy_1G|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179621184G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.10303+2527C>T|_NM_001267550.2:c.11019C>T|_NM_003319.4:c.10165+2527C>T|_NM_133378.4:c.10303+2527C>T|_NM_133379.4:c.10303+2527C>T|_NM_133432.3:c.10540+1085C>T|_NM_133437.4:c.10506C>T;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.11019C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0229;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,69;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_133437.4|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8983|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001627|intron_variant|SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179621184;RS_dbsnp_common_v150_hg19_refseq=,72955212;Read_count=,62;Read_coverage=,137;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.6718092806662215;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_133437.4|NM_001267550.2;Reverse_read_coverage=,68;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=0,11,17;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.992548|0.00745243;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05002808030504043e000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.0;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_133437.4|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_novex-2|titin|_transcript_variant_IC;transcript_id=,NM_133437.4|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133437:exon44:c.C10506T:p.C3502C,TTN:NM_001267550:exon46:c.C11019T:p.C3673C;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0107;esp6500siv2_ea=0.0146;esp6500siv2_all=0.0107;esp6500siv2_ea=0.0146;1000g2015aug_all=0.00519169;avsnp147=rs72955212;Kaviar_AF=0.0113323;Kaviar_AC=1752;Kaviar_AN=154602;ExAC_ALL=0.0114;ExAC_AFR=0.0023;ExAC_AMR=0.0044;ExAC_EAS=0;ExAC_FIN=0.0264;ExAC_NFE=0.0164;ExAC_OTH=0.0111;ExAC_SAS=0.0012;CLNALLELEID=57014;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1544;dpsi_zscore=0.627;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0111;gnomAD_exome_AFR=0.0026;gnomAD_exome_AMR=0.0045;gnomAD_exome_ASJ=0.0055;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0245;gnomAD_exome_NFE=0.0165;gnomAD_exome_OTH=0.0110;gnomAD_exome_SAS=0.0014;gnomAD_genome_ALL=0.0120;gnomAD_genome_AFR=0.0029;gnomAD_genome_AMR=0.0060;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0269;gnomAD_genome_NFE=0.0154;gnomAD_genome_OTH=0.0153;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-10 GT:DP:CLCAD2 1:123:0,53 . . . . . . . . . . 1:107:0,57 . . . . . 1:122:0,49 . . . . . . . . . . . . . . . . . . . . . . . . 2 179621477 137832;rs6433728 C T 185.89 . #_unique_end_positions=,74;#_unique_start_positions=,46;AC=84;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9962;ALLELEID_clinvar_20171029_hg19=,141535;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,1.0000;AN=84;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001254479.2:p.Ala3576Thr|_NP_597681.4:p.Ala3405Thr;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Ala3576Thr;CAF_dbsnp_common_v150_hg19_refseq=,0.0009984|0.999;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179621477C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.10303+2234G>A|_NM_001267550.2:c.10726G>A|_NM_003319.4:c.10165+2234G>A|_NM_133378.4:c.10303+2234G>A|_NM_133379.4:c.10303+2234G>A|_NM_133432.3:c.10540+792G>A|_NM_133437.4:c.10213G>A;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.10726G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,1.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,1.0000;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,33;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,T/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_133437.4|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8983|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant|SO:0001627|intron_variant|SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,154.7746851547134;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179621477;RS_dbsnp_common_v150_hg19_refseq=,6433728;Read_count=,137;Read_coverage=,137;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_133437.4|NM_001267550.2;Reverse_read_coverage=,104;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,1.0000;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050168080a0504053f100100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,1;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,1;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,1;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,1;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.999;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_133437.4|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_novex-2|titin|_transcript_variant_IC;transcript_id=,NM_133437.4|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133437:exon44:c.G10213A:p.A3405T,TTN:NM_001267550:exon46:c.G10726A:p.A3576T;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.9992;esp6500siv2_ea=1;esp6500siv2_all=0.9992;esp6500siv2_ea=1;1000g2015aug_all=0.999002;avsnp147=rs6433728;Kaviar_AF=0.937963;Kaviar_AC=145011;Kaviar_AN=154602;ExAC_ALL=0.9997;ExAC_AFR=0.9962;ExAC_AMR=0.9999;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=1;ExAC_OTH=1;ExAC_SAS=1;CLNALLELEID=141535;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.2453;dpsi_zscore=0.805;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.9997;gnomAD_exome_AFR=0.9963;gnomAD_exome_AMR=0.9999;gnomAD_exome_ASJ=1;gnomAD_exome_EAS=1;gnomAD_exome_FIN=1;gnomAD_exome_NFE=1.0000;gnomAD_exome_OTH=1;gnomAD_exome_SAS=1;gnomAD_genome_ALL=0.9992;gnomAD_genome_AFR=0.9973;gnomAD_genome_AMR=1;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=1;gnomAD_genome_FIN=1;gnomAD_genome_NFE=1;gnomAD_genome_OTH=1;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1/1:127:0,127 1/1:100:0,100 1/1:97:0,97 1/1:115:0,115 1/1:91:0,91 1/1:84:0,84 1/1:109:0,109 1/1:89:0,89 1/1:95:0,95 1/1:99:0,99 1/1:129:0,129 1/1:94:0,94 1/1:127:0,127 1/1:120:0,120 1/1:155:0,155 1/1:102:0,102 1/1:130:0,130 1/1:95:0,95 1/1:103:0,103 1/1:80:0,80 1/1:125:0,125 1/1:115:0,115 1/1:120:0,120 1/1:141:0,141 1/1:134:0,134 1/1:79:0,79 1/1:112:0,112 1/1:131:0,131 1/1:144:0,144 1/1:128:0,128 1/1:122:0,122 1/1:77:0,77 1/1:93:0,93 1/1:85:0,85 1/1:131:0,131 1/1:98:0,98 1/1:95:0,95 1/1:94:0,94 1/1:119:0,119 1/1:110:0,110 1/1:88:0,88 1/1:120:0,120 2 179621503 47846;rs72955213 C T 200.00 . #_unique_end_positions=,29;#_unique_start_positions=,16;AC=4;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0128;AF_EXAC_clinvar_20171029_hg19=,0.01406;AF_TGP_clinvar_20171029_hg19=,0.0064;ALLELEID_clinvar_20171029_hg19=,57010;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0058;AN=4;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_597681.4:p.Ser3396Asn|_NP_001254479.2:p.Ser3567Asn;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Ser3567Asn;BaseQRankSum=,0.15;CAF_dbsnp_common_v150_hg19_refseq=,0.9936|0.00639;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1837342|OMIM:608807|Orphanet:ORPHA140922|MedGen:C1858763|OMIM:604145|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Limb-girdle_muscular_dystrophy|_type_2J|Dilated_cardiomyopathy_1G|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179621503C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.10303+2208G>A|_NM_001267550.2:c.10700G>A|_NM_003319.4:c.10165+2208G>A|_NM_133378.4:c.10303+2208G>A|_NM_133379.4:c.10303+2208G>A|_NM_133432.3:c.10540+766G>A|_NM_133437.4:c.10187G>A;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.10700G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0268;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,24;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_133437.4|NM_001267550.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8983|rna8987;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant|SO:0001627|intron_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179621503;RS_dbsnp_common_v150_hg19_refseq=,72955213;Read_count=,47;Read_coverage=,103;Read_direction_test_probability=,0.9668631346272558;Read_position_test_probability=,0.5203180255560478;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_133437.4|NM_001267550.2;Reverse_read_coverage=,79;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;SF=0,4,11,17;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.990521|0.00947867;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128080a0504043e000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.972;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_133437.4|Genbank:NM_001267550.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_novex-2|titin|_transcript_variant_IC;transcript_id=,NM_133437.4|NM_001267550.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133437:exon44:c.G10187A:p.S3396N,TTN:NM_001267550:exon46:c.G10700A:p.S3567N;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0128;esp6500siv2_ea=0.0176;esp6500siv2_all=0.0128;esp6500siv2_ea=0.0176;1000g2015aug_all=0.00638978;avsnp147=rs72955213;Kaviar_AF=0.0140166;Kaviar_AC=2167;Kaviar_AN=154602;ExAC_ALL=0.0141;ExAC_AFR=0.0031;ExAC_AMR=0.0056;ExAC_EAS=0.0001;ExAC_FIN=0.0284;ExAC_NFE=0.0201;ExAC_OTH=0.0124;ExAC_SAS=0.0035;CLNALLELEID=57010;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.455;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=0.18;FATHMM_pred=T;PROVEAN_score=-0.57;PROVEAN_pred=N;VEST3_score=0.033;CADD_raw=2.386;CADD_phred=18.73;DANN_score=0.908;fathmm-MKL_coding_score=0.829;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.001;MetaSVM_pred=T;MetaLR_score=0.063;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=3.16;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=0.996;SiPhy_29way_logOdds=11.159;GDI_full_10282015=.;dpsi_max_tissue=0.2934;dpsi_zscore=0.881;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0138;gnomAD_exome_AFR=0.0031;gnomAD_exome_AMR=0.0061;gnomAD_exome_ASJ=0.0116;gnomAD_exome_EAS=5.817e-05;gnomAD_exome_FIN=0.0266;gnomAD_exome_NFE=0.0202;gnomAD_exome_OTH=0.0134;gnomAD_exome_SAS=0.0035;gnomAD_genome_ALL=0.0141;gnomAD_genome_AFR=0.0036;gnomAD_genome_AMR=0.0084;gnomAD_genome_ASJ=0.0132;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0280;gnomAD_genome_NFE=0.0186;gnomAD_genome_OTH=0.0193;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-10 GT:DP:CLCAD2 1:90:0,42 . . . 1:74:0,39 . . . . . . 1:74:0,36 . . . . . 1:72:0,31 . . . . . . . . . . . . . . . . . . . . . . . . 2 179623758 46582;rs2291310 C T 163.33 . #_unique_end_positions=,38;#_unique_start_positions=,36;AC=79;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.8389;ALLELEID_clinvar_20171029_hg19=,55747;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6700;AN=79;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001243779.1:p.Ser3419Asn|_NP_596869.4:p.Ser3419Asn|_NP_003310.4:p.Ser3373Asn|_NP_001254479.2:p.Ser3419Asn|_NP_596870.2:p.Ser3419Asn|_NP_597676.3:p.Ser3373Asn|_NP_597681.4:p.Ser3373Asn;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Ser3419Asn;BaseQRankSum=,-0.2;CAF_dbsnp_common_v150_hg19_refseq=,0.1911|0.8089;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179623758C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:26968|UniProtKB_(protein):Q8WZ42#VAR_056083;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.10256G>A|_NM_001267550.2:c.10256G>A|_NM_003319.4:c.10118G>A|_NM_133378.4:c.10256G>A|_NM_133379.4:c.10256G>A|_NM_133432.3:c.10118G>A|_NM_133437.4:c.10118G>A;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.10256G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7847;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9145;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,32;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,T/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2|NM_133379.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987|rna8988;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179623758;RS_dbsnp_common_v150_hg19_refseq=,2291310;Read_count=,64;Read_coverage=,64;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2|NM_133379.4;Reverse_read_coverage=,32;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7832;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.126554|0.873446;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050328000a0515053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.806122;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.915929;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.768293;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.782353;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.829545;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.77907;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.794118;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.855556;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.68;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.916084;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.954545;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.880531;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.017;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2|Genbank:NM_133379.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC|titin|_transcript_variant_novex-3;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2|NM_133379.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon43:c.G10118A:p.S3373N,TTN:NM_133432:exon43:c.G10118A:p.S3373N,TTN:NM_133437:exon43:c.G10118A:p.S3373N,TTN:NM_001256850:exon44:c.G10256A:p.S3419N,TTN:NM_001267550:exon44:c.G10256A:p.S3419N,TTN:NM_133378:exon44:c.G10256A:p.S3419N,TTN:NM_133379:exon44:c.G10256A:p.S3419N;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.9024;esp6500siv2_ea=0.9324;esp6500siv2_all=0.9024;esp6500siv2_ea=0.9324;1000g2015aug_all=0.808906;avsnp147=rs2291310;Kaviar_AF=0.852447;Kaviar_AC=131790;Kaviar_AN=154602;ExAC_ALL=0.8512;ExAC_AFR=0.8450;ExAC_AMR=0.5501;ExAC_EAS=0.7636;ExAC_FIN=0.8853;ExAC_NFE=0.9274;ExAC_OTH=0.8656;ExAC_SAS=0.7891;CLNALLELEID=55747;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.634;SIFT_pred=T;Polyphen2_HDIV_score=0.003;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.003;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=1.99;MutationAssessor_pred=M;FATHMM_score=-0.3;FATHMM_pred=T;PROVEAN_score=0.45;PROVEAN_pred=N;VEST3_score=0.044;CADD_raw=1.814;CADD_phred=15.07;DANN_score=0.778;fathmm-MKL_coding_score=0.085;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.979;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=-3.23;phyloP7way_vertebrate=-0.392;phyloP20way_mammalian=-0.489;phastCons7way_vertebrate=0.997;phastCons20way_mammalian=0.993;SiPhy_29way_logOdds=7.485;GDI_full_10282015=.;dpsi_max_tissue=0.9429;dpsi_zscore=1.487;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.8412;gnomAD_exome_AFR=0.8492;gnomAD_exome_AMR=0.5692;gnomAD_exome_ASJ=0.9141;gnomAD_exome_EAS=0.7668;gnomAD_exome_FIN=0.8910;gnomAD_exome_NFE=0.9303;gnomAD_exome_OTH=0.8640;gnomAD_exome_SAS=0.7893;gnomAD_genome_ALL=0.8838;gnomAD_genome_AFR=0.8408;gnomAD_genome_AMR=0.6316;gnomAD_genome_ASJ=0.9205;gnomAD_genome_EAS=0.7832;gnomAD_genome_FIN=0.8872;gnomAD_genome_NFE=0.9313;gnomAD_genome_OTH=0.8969;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 1/1:53:0,53 1/1:31:0,31 1/1:46:0,46 1/1:30:0,30 1/1:43:0,43 1/1:45:0,45 1/1:47:0,47 1/1:40:0,40 1/1:57:0,57 1/1:34:0,34 1/1:45:0,45 1/1:52:0,52 1/1:54:0,54 1/1:53:0,53 1:79:0,38 1/1:49:0,49 1/1:31:0,31 1:43:0,21 1/1:37:0,37 1:57:0,30 1/1:57:0,57 1/1:54:0,54 1/1:43:0,43 1/1:48:0,48 1/1:52:0,52 1:25:0,9 1/1:55:0,55 1/1:60:0,60 1/1:46:0,46 1:56:0,39 1/1:57:0,57 1/1:32:0,32 1/1:39:0,39 1/1:39:0,39 1/1:51:0,51 1/1:49:0,49 1/1:48:0,48 1/1:34:0,34 1/1:37:0,37 1/1:42:0,42 1/1:42:0,42 1/1:55:0,55 2 179628918 46578;rs34819099 C T 200.00 . #_unique_end_positions=,25;#_unique_start_positions=,24;AC=3;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0121;AF_EXAC_clinvar_20171029_hg19=,0.00996;AF_TGP_clinvar_20171029_hg19=,0.0038;ALLELEID_clinvar_20171029_hg19=,55743;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0029;AN=3;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_596870.2:p.Arg3367Gln|_NP_597681.4:p.Arg3321Gln|_NP_003310.4:p.Arg3321Gln|_NP_596869.4:p.Arg3367Gln|_NP_597676.3:p.Arg3321Gln|_NP_001243779.1:p.Arg3367Gln|_NP_001254479.2:p.Arg3367Gln;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Arg3367Gln;BaseQRankSum=,0.39;CAF_dbsnp_common_v150_hg19_refseq=,0.9962|0.003794;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1837342|OMIM:608807|Orphanet:ORPHA140922|MedGen:C1858763|OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNDN_clinvar_20171029_hg19=,Limb-girdle_muscular_dystrophy|_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179628918C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,UniProtKB_(protein):Q8WZ42#VAR_040123;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.10100G>A|_NM_001267550.2:c.10100G>A|_NM_003319.4:c.9962G>A|_NM_133378.4:c.10100G>A|_NM_133379.4:c.10100G>A|_NM_133432.3:c.9962G>A|_NM_133437.4:c.9962G>A;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.10100G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0129;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,64;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2|NM_133379.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987|rna8988;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179628918;RS_dbsnp_common_v150_hg19_refseq=,34819099;Read_count=,40;Read_coverage=,102;Read_direction_test_probability=,0.985359705431829;Read_position_test_probability=,0.9939939427729323;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2|NM_133379.4;Reverse_read_coverage=,38;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0031;SF=14,19,29;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.990178|0.0098221;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050328000a05040436000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.881;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2|Genbank:NM_133379.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC|titin|_transcript_variant_novex-3;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2|NM_133379.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon42:c.G9962A:p.R3321Q,TTN:NM_133432:exon42:c.G9962A:p.R3321Q,TTN:NM_133437:exon42:c.G9962A:p.R3321Q,TTN:NM_001256850:exon43:c.G10100A:p.R3367Q,TTN:NM_001267550:exon43:c.G10100A:p.R3367Q,TTN:NM_133378:exon43:c.G10100A:p.R3367Q,TTN:NM_133379:exon43:c.G10100A:p.R3367Q;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0121;esp6500siv2_ea=0.0164;esp6500siv2_all=0.0121;esp6500siv2_ea=0.0164;1000g2015aug_all=0.00379393;avsnp147=rs34819099;Kaviar_AF=0.0103944;Kaviar_AC=1607;Kaviar_AN=154602;ExAC_ALL=0.0100;ExAC_AFR=0.0031;ExAC_AMR=0.0049;ExAC_EAS=0.0009;ExAC_FIN=0.0018;ExAC_NFE=0.0148;ExAC_OTH=0.0088;ExAC_SAS=0.0064;CLNALLELEID=55743;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.62;SIFT_pred=T;Polyphen2_HDIV_score=0.063;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.018;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=N;MutationAssessor_score=1.05;MutationAssessor_pred=L;FATHMM_score=-0.2;FATHMM_pred=T;PROVEAN_score=-1.27;PROVEAN_pred=N;VEST3_score=0.24;CADD_raw=3.746;CADD_phred=23.3;DANN_score=0.979;fathmm-MKL_coding_score=0.772;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.990;MetaSVM_pred=T;MetaLR_score=0.078;MetaLR_pred=T;integrated_fitCons_score=0.549;integrated_confidence_value=0;GERP++_RS=1.32;phyloP7way_vertebrate=0.008;phyloP20way_mammalian=0.077;phastCons7way_vertebrate=0.990;phastCons20way_mammalian=0.989;SiPhy_29way_logOdds=6.065;GDI_full_10282015=.;dpsi_max_tissue=-1.1474;dpsi_zscore=-1.554;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0101;gnomAD_exome_AFR=0.0026;gnomAD_exome_AMR=0.0049;gnomAD_exome_ASJ=0.0223;gnomAD_exome_EAS=0.0010;gnomAD_exome_FIN=0.0020;gnomAD_exome_NFE=0.0155;gnomAD_exome_OTH=0.0111;gnomAD_exome_SAS=0.0067;gnomAD_genome_ALL=0.0094;gnomAD_genome_AFR=0.0036;gnomAD_genome_AMR=0.0096;gnomAD_genome_ASJ=0.0166;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0032;gnomAD_genome_NFE=0.0153;gnomAD_genome_OTH=0.0041;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-10 GT:DP:CLCAD2 . . . . . . . . . . . . . . 1:92:0,38 . . . . 1:62:0,34 . . . . . . . . . 1:67:0,29 . . . . . . . . . . . . 2 179629363 47707;rs4894043 T C 185.27 . #_unique_end_positions=,68;#_unique_start_positions=,57;AC=84;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9032;ALLELEID_clinvar_20171029_hg19=,56871;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9942;AN=84;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;CAF_dbsnp_common_v150_hg19_refseq=,0.02636|0.9736;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179629363T>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:26978;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.9879A>G|_NM_001267550.2:c.9879A>G|_NM_003319.4:c.9741A>G|_NM_133378.4:c.9879A>G|_NM_133379.4:c.9879A>G|_NM_133432.3:c.9741A>G|_NM_133437.4:c.9741A>G;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.9879A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,1.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,1.0000;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,78;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,C/C;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2|NM_133379.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987|rna8988;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,159.54589770191004;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179629363;RS_dbsnp_common_v150_hg19_refseq=,4894043;Read_count=,140;Read_coverage=,140;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2|NM_133379.4;Reverse_read_coverage=,62;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,1.0000;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.0404561|0.959544;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05032800030515053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.908163;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,1;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,1;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,1;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.888889;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.884615;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.924779;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.995;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2|Genbank:NM_133379.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC|titin|_transcript_variant_novex-3;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2|NM_133379.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon41:c.A9741G:p.E3247E,TTN:NM_133432:exon41:c.A9741G:p.E3247E,TTN:NM_133437:exon41:c.A9741G:p.E3247E,TTN:NM_001256850:exon42:c.A9879G:p.E3293E,TTN:NM_001267550:exon42:c.A9879G:p.E3293E,TTN:NM_133378:exon42:c.A9879G:p.E3293E,TTN:NM_133379:exon42:c.A9879G:p.E3293E;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.9703;esp6500siv2_ea=0.9992;esp6500siv2_all=0.9703;esp6500siv2_ea=0.9992;1000g2015aug_all=0.973642;avsnp147=rs4894043;Kaviar_AF=0.971275;Kaviar_AC=150161;Kaviar_AN=154602;ExAC_ALL=0.9921;ExAC_AFR=0.9141;ExAC_AMR=0.9969;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9997;ExAC_OTH=0.9923;ExAC_SAS=0.9998;CLNALLELEID=56871;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.3996;dpsi_zscore=-0.983;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.9941;gnomAD_exome_AFR=0.9147;gnomAD_exome_AMR=0.9969;gnomAD_exome_ASJ=1;gnomAD_exome_EAS=1;gnomAD_exome_FIN=1;gnomAD_exome_NFE=0.9998;gnomAD_exome_OTH=0.9967;gnomAD_exome_SAS=0.9998;gnomAD_genome_ALL=0.9744;gnomAD_genome_AFR=0.9105;gnomAD_genome_AMR=0.9940;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=1;gnomAD_genome_FIN=1;gnomAD_genome_NFE=0.9999;gnomAD_genome_OTH=0.9969;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 1/1:117:0,117 1/1:114:0,114 1/1:90:0,90 1/1:92:0,92 1/1:86:0,86 1/1:98:0,98 1/1:100:0,100 1/1:83:0,83 1/1:89:0,89 1/1:105:0,105 1/1:92:0,92 1/1:93:0,93 1/1:103:0,103 1/1:124:0,124 1/1:137:0,137 1/1:112:0,112 1/1:102:0,102 1/1:109:0,109 1/1:88:0,87 1/1:79:0,79 1/1:99:0,99 1/1:104:0,104 1/1:137:0,137 1/1:111:0,111 1/1:113:0,113 1/1:100:0,100 1/1:86:0,86 1/1:104:0,104 1/1:122:0,122 1/1:128:0,128 1/1:125:0,125 1/1:62:0,62 1/1:109:0,109 1/1:74:0,74 1/1:104:0,104 1/1:109:0,109 1/1:90:0,90 1/1:87:0,87 1/1:79:0,79 1/1:104:0,104 1/1:117:0,117 1/1:105:0,105 2 179629461 47692;rs2291311 C T 187.51 . #_unique_end_positions=,63;#_unique_start_positions=,57;AC=79;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.8253;ALLELEID_clinvar_20171029_hg19=,56856;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6671;AN=79;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001243779.1:p.Val3261Met|_NP_001254479.2:p.Val3261Met|_NP_596870.2:p.Val3261Met|_NP_596869.4:p.Val3261Met|_NP_003310.4:p.Val3215Met|_NP_597676.3:p.Val3215Met|_NP_597681.4:p.Val3215Met;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Val3261Met;BaseQRankSum=,0.03;CAF_dbsnp_common_v150_hg19_refseq=,0.1951|0.8049;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179629461C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:26989|UniProtKB_(protein):Q8WZ42#VAR_040122;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.9781G>A|_NM_001267550.2:c.9781G>A|_NM_003319.4:c.9643G>A|_NM_133378.4:c.9781G>A|_NM_133379.4:c.9781G>A|_NM_133432.3:c.9643G>A|_NM_133437.4:c.9643G>A;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.9781G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7847;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9145;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,53;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,T/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2|NM_133379.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987|rna8988;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179629461;RS_dbsnp_common_v150_hg19_refseq=,2291311;Read_count=,128;Read_coverage=,128;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2|NM_133379.4;Reverse_read_coverage=,75;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7832;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.131499|0.868501;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050328000a0515053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.785714;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.915929;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.768293;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.782353;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.829545;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.790698;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.790698;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.833333;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.693878;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.874126;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.954545;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.862832;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.951;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2|Genbank:NM_133379.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC|titin|_transcript_variant_novex-3;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2|NM_133379.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon41:c.G9643A:p.V3215M,TTN:NM_133432:exon41:c.G9643A:p.V3215M,TTN:NM_133437:exon41:c.G9643A:p.V3215M,TTN:NM_001256850:exon42:c.G9781A:p.V3261M,TTN:NM_001267550:exon42:c.G9781A:p.V3261M,TTN:NM_133378:exon42:c.G9781A:p.V3261M,TTN:NM_133379:exon42:c.G9781A:p.V3261M;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.8965;esp6500siv2_ea=0.9322;esp6500siv2_all=0.8965;esp6500siv2_ea=0.9322;1000g2015aug_all=0.804912;avsnp147=rs2291311;Kaviar_AF=0.850164;Kaviar_AC=131437;Kaviar_AN=154602;ExAC_ALL=0.8500;ExAC_AFR=0.8310;ExAC_AMR=0.5504;ExAC_EAS=0.7641;ExAC_FIN=0.8854;ExAC_NFE=0.9273;ExAC_OTH=0.8656;ExAC_SAS=0.7890;CLNALLELEID=56856;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.205;SIFT_pred=T;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.871;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=1.49;MutationAssessor_pred=L;FATHMM_score=-0.25;FATHMM_pred=T;PROVEAN_score=-1.22;PROVEAN_pred=N;VEST3_score=0.334;CADD_raw=2.855;CADD_phred=21.6;DANN_score=0.893;fathmm-MKL_coding_score=0.735;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.065;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=4.82;phyloP7way_vertebrate=0.002;phyloP20way_mammalian=0.068;phastCons7way_vertebrate=0.986;phastCons20way_mammalian=0.993;SiPhy_29way_logOdds=11.614;GDI_full_10282015=.;dpsi_max_tissue=-0.1609;dpsi_zscore=-0.606;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.8401;gnomAD_exome_AFR=0.8333;gnomAD_exome_AMR=0.5691;gnomAD_exome_ASJ=0.9144;gnomAD_exome_EAS=0.7668;gnomAD_exome_FIN=0.8909;gnomAD_exome_NFE=0.9303;gnomAD_exome_OTH=0.8638;gnomAD_exome_SAS=0.7892;gnomAD_genome_ALL=0.8800;gnomAD_genome_AFR=0.8272;gnomAD_genome_AMR=0.6331;gnomAD_genome_ASJ=0.9205;gnomAD_genome_EAS=0.7819;gnomAD_genome_FIN=0.8875;gnomAD_genome_NFE=0.9314;gnomAD_genome_OTH=0.8961;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 1/1:101:0,101 1/1:126:0,126 1/1:74:0,74 1/1:88:0,88 1/1:72:0,72 1/1:85:0,85 1/1:99:0,99 1/1:84:0,84 1/1:87:0,87 1/1:111:0,111 1/1:94:0,94 1/1:90:0,90 1/1:96:0,96 1/1:137:0,137 1:124:0,52 1/1:107:0,107 1/1:100:0,100 1:94:0,45 1/1:72:0,72 1:84:0,34 1/1:111:0,111 1/1:88:0,88 1/1:118:0,118 1/1:99:0,99 1/1:112:0,112 1:87:0,29 1/1:98:0,98 1/1:87:0,87 1/1:97:0,97 1:120:0,47 1/1:116:0,116 1/1:59:0,59 1/1:90:0,90 1/1:72:0,72 1/1:96:0,96 1/1:108:0,108 1/1:91:0,91 1/1:87:0,87 1/1:60:0,60 1/1:96:0,96 1/1:95:0,95 1/1:85:0,85 2 179631214 47661;rs2291312 T C 175.57 . #_unique_end_positions=,36;#_unique_start_positions=,31;AC=5;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0772;AF_ESP_clinvar_20171029_hg19=,0.0736;AF_EXAC_clinvar_20171029_hg19=,0.14188;AF_TGP_clinvar_20171029_hg19=,0.1677;ALLELEID_clinvar_20171029_hg19=,56825;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3271;AN=5;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.16;CAF_dbsnp_common_v150_hg19_refseq=,0.8323|0.1677;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179631214T>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:27357;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.9597A>G|_NM_001267550.2:c.9597A>G|_NM_003319.4:c.9459A>G|_NM_133378.4:c.9597A>G|_NM_133379.4:c.9597A>G|_NM_133432.3:c.9459A>G|_NM_133437.4:c.9459A>G;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.9597A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2143;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0845;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,53;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2|NM_133379.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987|rna8988;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179631214;RS_dbsnp_common_v150_hg19_refseq=,2291312;Read_count=,42;Read_coverage=,94;Read_direction_test_probability=,0.9685225013012401;Read_position_test_probability=,0.972903689548808;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2|NM_133379.4;Reverse_read_coverage=,41;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2147;SF=14,17,19,25,29;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.909128|0.0908716;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050328000305150537000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.122449;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0840708;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.231707;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.217647;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.170455;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.209302;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.209302;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.0388889;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.32;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.0104895;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.0397727;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0619469;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.996;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2|Genbank:NM_133379.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC|titin|_transcript_variant_novex-3;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2|NM_133379.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon40:c.A9459G:p.E3153E,TTN:NM_133432:exon40:c.A9459G:p.E3153E,TTN:NM_133437:exon40:c.A9459G:p.E3153E,TTN:NM_001256850:exon41:c.A9597G:p.E3199E,TTN:NM_001267550:exon41:c.A9597G:p.E3199E,TTN:NM_133378:exon41:c.A9597G:p.E3199E,TTN:NM_133379:exon41:c.A9597G:p.E3199E;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0736;esp6500siv2_ea=0.0667;esp6500siv2_all=0.0736;esp6500siv2_ea=0.0667;1000g2015aug_all=0.167732;avsnp147=rs2291312;Kaviar_AF=0.135445;Kaviar_AC=20940;Kaviar_AN=154602;ExAC_ALL=0.1419;ExAC_AFR=0.0831;ExAC_AMR=0.4473;ExAC_EAS=0.2368;ExAC_FIN=0.1146;ExAC_NFE=0.0720;ExAC_OTH=0.1267;ExAC_SAS=0.2101;CLNALLELEID=56825;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0315;dpsi_zscore=-0.173;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1536;gnomAD_exome_AFR=0.0812;gnomAD_exome_AMR=0.4279;gnomAD_exome_ASJ=0.0859;gnomAD_exome_EAS=0.2329;gnomAD_exome_FIN=0.1091;gnomAD_exome_NFE=0.0690;gnomAD_exome_OTH=0.1323;gnomAD_exome_SAS=0.2102;gnomAD_genome_ALL=0.0948;gnomAD_genome_AFR=0.0845;gnomAD_genome_AMR=0.3640;gnomAD_genome_ASJ=0.0795;gnomAD_genome_EAS=0.2168;gnomAD_genome_FIN=0.1125;gnomAD_genome_NFE=0.0684;gnomAD_genome_OTH=0.1008;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 . . . . . . . . . . . . . . 1:82:0,39 . . 1:64:0,30 . 1:48:0,28 . . . . . 1:55:0,30 . . . 1:58:0,35 . . . . . . . . . . . . 2 179632496 47648;rs4893853 T C 132.14 . #_unique_end_positions=,24;#_unique_start_positions=,19;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0749;AF_ESP_clinvar_20171029_hg19=,0.0384;AF_EXAC_clinvar_20171029_hg19=,0.06589;AF_TGP_clinvar_20171029_hg19=,0.0861;ALLELEID_clinvar_20171029_hg19=,56812;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1542;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_597681.4:p.Lys3108Arg|_NP_596869.4:p.Lys3154Arg|_NP_596870.2:p.Lys3154Arg|_NP_001243779.1:p.Lys3154Arg|_NP_003310.4:p.Lys3108Arg|_NP_001254479.2:p.Lys3154Arg|_NP_597676.3:p.Lys3108Arg;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Lys3154Arg;BaseQRankSum=,0.44;CAF_dbsnp_common_v150_hg19_refseq=,0.9139|0.08606;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179632496T>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:88140|UniProtKB_(protein):Q8WZ42#VAR_040118;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.9461A>G|_NM_001267550.2:c.9461A>G|_NM_003319.4:c.9323A>G|_NM_133378.4:c.9461A>G|_NM_133379.4:c.9461A>G|_NM_133432.3:c.9323A>G|_NM_133437.4:c.9323A>G;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.9461A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0208;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0348;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,44;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2|NM_133379.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987|rna8988;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,132.1422708069676;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179632496;RS_dbsnp_common_v150_hg19_refseq=,4893853;Read_count=,28;Read_coverage=,77;Read_direction_test_probability=,0.9539103865436388;Read_position_test_probability=,0.7202752240155643;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2|NM_133379.4;Reverse_read_coverage=,33;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1728;SF=17;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.949413|0.0505873;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050328000a05150537000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.122449;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0176991;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.0365854;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.0294118;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.147727;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0119048;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.0388889;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.14;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.0104895;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.0113636;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0619469;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2|Genbank:NM_133379.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC|titin|_transcript_variant_novex-3;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2|NM_133379.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon39:c.A9323G:p.K3108R,TTN:NM_133432:exon39:c.A9323G:p.K3108R,TTN:NM_133437:exon39:c.A9323G:p.K3108R,TTN:NM_001256850:exon40:c.A9461G:p.K3154R,TTN:NM_001267550:exon40:c.A9461G:p.K3154R,TTN:NM_133378:exon40:c.A9461G:p.K3154R,TTN:NM_133379:exon40:c.A9461G:p.K3154R;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0384;esp6500siv2_ea=0.0212;esp6500siv2_all=0.0384;esp6500siv2_ea=0.0212;1000g2015aug_all=0.0860623;avsnp147=rs4893853;Kaviar_AF=0.062179;Kaviar_AC=9613;Kaviar_AN=154602;ExAC_ALL=0.0659;ExAC_AFR=0.0731;ExAC_AMR=0.1887;ExAC_EAS=0.0242;ExAC_FIN=0.0572;ExAC_NFE=0.0243;ExAC_OTH=0.0749;ExAC_SAS=0.1681;CLNALLELEID=56812;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.522;SIFT_pred=T;Polyphen2_HDIV_score=0.031;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.026;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.999;MutationTaster_pred=P;MutationAssessor_score=0.955;MutationAssessor_pred=L;FATHMM_score=-0.34;FATHMM_pred=T;PROVEAN_score=-1.24;PROVEAN_pred=N;VEST3_score=0.09;CADD_raw=1.376;CADD_phred=12.66;DANN_score=0.958;fathmm-MKL_coding_score=0.884;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.005;MetaSVM_pred=T;MetaLR_score=0.005;MetaLR_pred=T;integrated_fitCons_score=0.516;integrated_confidence_value=0;GERP++_RS=2.14;phyloP7way_vertebrate=0.046;phyloP20way_mammalian=0.141;phastCons7way_vertebrate=0.978;phastCons20way_mammalian=0.997;SiPhy_29way_logOdds=10.138;GDI_full_10282015=.;dpsi_max_tissue=-0.7218;dpsi_zscore=-1.287;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0708;gnomAD_exome_AFR=0.0703;gnomAD_exome_AMR=0.1867;gnomAD_exome_ASJ=0.0287;gnomAD_exome_EAS=0.0253;gnomAD_exome_FIN=0.0554;gnomAD_exome_NFE=0.0233;gnomAD_exome_OTH=0.0593;gnomAD_exome_SAS=0.1687;gnomAD_genome_ALL=0.0445;gnomAD_genome_AFR=0.0707;gnomAD_genome_AMR=0.1647;gnomAD_genome_ASJ=0.0199;gnomAD_genome_EAS=0.0278;gnomAD_genome_FIN=0.0524;gnomAD_genome_NFE=0.0225;gnomAD_genome_OTH=0.0519;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . 1:72:0,25 . . . . . . . . . . . . . . . . . . . . . . . . 2 179633644 47571;rs4894045 G C 200.00 . #_unique_end_positions=,22;#_unique_start_positions=,18;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0756;AF_ESP_clinvar_20171029_hg19=,0.0388;AF_EXAC_clinvar_20171029_hg19=,0.06599;AF_TGP_clinvar_20171029_hg19=,0.0867;ALLELEID_clinvar_20171029_hg19=,56735;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1542;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.32;CAF_dbsnp_common_v150_hg19_refseq=,0.9133|0.08666;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179633644G>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:88163;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.8919C>G|_NM_001267550.2:c.8919C>G|_NM_003319.4:c.8781C>G|_NM_133378.4:c.8919C>G|_NM_133379.4:c.8919C>G|_NM_133432.3:c.8781C>G|_NM_133437.4:c.8781C>G;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.8919C>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0208;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0348;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,16;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,C/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2|NM_133379.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987|rna8988;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179633644;RS_dbsnp_common_v150_hg19_refseq=,4894045;Read_count=,27;Read_coverage=,62;Read_direction_test_probability=,0.9913544098139716;Read_position_test_probability=,0.996104375277277;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2|NM_133379.4;Reverse_read_coverage=,46;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1748;SF=17;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.949241|0.050759;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050328000305150537000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0166667;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0222222;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0416667;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2|Genbank:NM_133379.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC|titin|_transcript_variant_novex-3;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2|NM_133379.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon37:c.C8781G:p.S2927S,TTN:NM_133432:exon37:c.C8781G:p.S2927S,TTN:NM_133437:exon37:c.C8781G:p.S2927S,TTN:NM_001256850:exon38:c.C8919G:p.S2973S,TTN:NM_001267550:exon38:c.C8919G:p.S2973S,TTN:NM_133378:exon38:c.C8919G:p.S2973S,TTN:NM_133379:exon38:c.C8919G:p.S2973S;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0388;esp6500siv2_ea=0.0215;esp6500siv2_all=0.0388;esp6500siv2_ea=0.0215;1000g2015aug_all=0.0866613;avsnp147=rs4894045;Kaviar_AF=0.062192;Kaviar_AC=9615;Kaviar_AN=154602;ExAC_ALL=0.0660;ExAC_AFR=0.0724;ExAC_AMR=0.1883;ExAC_EAS=0.0242;ExAC_FIN=0.0571;ExAC_NFE=0.0243;ExAC_OTH=0.0730;ExAC_SAS=0.1690;CLNALLELEID=56735;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.8597;dpsi_zscore=1.430;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0708;gnomAD_exome_AFR=0.0698;gnomAD_exome_AMR=0.1865;gnomAD_exome_ASJ=0.0288;gnomAD_exome_EAS=0.0253;gnomAD_exome_FIN=0.0553;gnomAD_exome_NFE=0.0233;gnomAD_exome_OTH=0.0594;gnomAD_exome_SAS=0.1691;gnomAD_genome_ALL=0.0444;gnomAD_genome_AFR=0.0707;gnomAD_genome_AMR=0.1651;gnomAD_genome_ASJ=0.0199;gnomAD_genome_EAS=0.0266;gnomAD_genome_FIN=0.0522;gnomAD_genome_NFE=0.0225;gnomAD_genome_OTH=0.0520;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . 1:61:0,26 . . . . . . . . . . . . . . . . . . . . . . . . 2 179634936 47527;rs2306636 C T 200.00 . #_unique_end_positions=,68;#_unique_start_positions=,60;AC=4;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0023;AF_ESP_clinvar_20171029_hg19=,0.0344;AF_EXAC_clinvar_20171029_hg19=,0.07594;AF_TGP_clinvar_20171029_hg19=,0.0813;ALLELEID_clinvar_20171029_hg19=,56691;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1729;AN=4;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_597676.3:p.Ser2785Asn|_NP_596869.4:p.Ser2831Asn|_NP_001254479.2:p.Ser2831Asn|_NP_001243779.1:p.Ser2831Asn|_NP_597681.4:p.Ser2785Asn|_NP_596870.2:p.Ser2831Asn|_NP_003310.4:p.Ser2785Asn;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Ser2831Asn;BaseQRankSum=,-0.66;CAF_dbsnp_common_v150_hg19_refseq=,0.9187|0.08127;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179634936C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:27390|UniProtKB_(protein):Q8WZ42#VAR_040116;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.8492G>A|_NM_001267550.2:c.8492G>A|_NM_003319.4:c.8354G>A|_NM_133378.4:c.8492G>A|_NM_133379.4:c.8492G>A|_NM_133432.3:c.8354G>A|_NM_133437.4:c.8354G>A;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.8492G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1905;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0507;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,124;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2|NM_133379.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987|rna8988;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179634936;RS_dbsnp_common_v150_hg19_refseq=,2306636;Read_count=,96;Read_coverage=,206;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9950561040811425;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2|NM_133379.4;Reverse_read_coverage=,82;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0419;SF=14,19,25,29;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.959716|0.0402844;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050328000a05150537000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0669643;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.182927;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.188235;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.0227273;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.197674;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.215116;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.1875;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.0287356;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2|Genbank:NM_133379.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC|titin|_transcript_variant_novex-3;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2|NM_133379.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon35:c.G8354A:p.S2785N,TTN:NM_133432:exon35:c.G8354A:p.S2785N,TTN:NM_133437:exon35:c.G8354A:p.S2785N,TTN:NM_001256850:exon36:c.G8492A:p.S2831N,TTN:NM_001267550:exon36:c.G8492A:p.S2831N,TTN:NM_133378:exon36:c.G8492A:p.S2831N,TTN:NM_133379:exon36:c.G8492A:p.S2831N;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0344;esp6500siv2_ea=0.0451;esp6500siv2_all=0.0344;esp6500siv2_ea=0.0451;1000g2015aug_all=0.08127;avsnp147=rs2306636;Kaviar_AF=0.0730327;Kaviar_AC=11291;Kaviar_AN=154602;ExAC_ALL=0.0759;ExAC_AFR=0.0105;ExAC_AMR=0.2591;ExAC_EAS=0.2099;ExAC_FIN=0.0575;ExAC_NFE=0.0476;ExAC_OTH=0.0518;ExAC_SAS=0.0422;CLNALLELEID=56691;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-1.15;MutationAssessor_pred=N;FATHMM_score=1.06;FATHMM_pred=T;PROVEAN_score=3.24;PROVEAN_pred=N;VEST3_score=0.303;CADD_raw=2.325;CADD_phred=18.33;DANN_score=0.940;fathmm-MKL_coding_score=0.342;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.071;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=6.06;phyloP7way_vertebrate=0.084;phyloP20way_mammalian=0.154;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=0.999;SiPhy_29way_logOdds=12.356;GDI_full_10282015=.;dpsi_max_tissue=0.1891;dpsi_zscore=0.701;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0825;gnomAD_exome_AFR=0.0109;gnomAD_exome_AMR=0.2413;gnomAD_exome_ASJ=0.0568;gnomAD_exome_EAS=0.2047;gnomAD_exome_FIN=0.0536;gnomAD_exome_NFE=0.0455;gnomAD_exome_OTH=0.0726;gnomAD_exome_SAS=0.0413;gnomAD_genome_ALL=0.0498;gnomAD_genome_AFR=0.0133;gnomAD_genome_AMR=0.1993;gnomAD_genome_ASJ=0.0596;gnomAD_genome_EAS=0.1853;gnomAD_genome_FIN=0.0601;gnomAD_genome_NFE=0.0457;gnomAD_genome_OTH=0.0490;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 . . . . . . . . . . . . . . 1:199:0,94 . . . . 1:149:0,79 . . . . . 1:117:0,60 . . . 1:190:0,100 . . . . . . . . . . . . 2 179634961 47523;rs33917087 C A 200.00 . #_unique_end_positions=,59;#_unique_start_positions=,46;AC=2;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0008;AF_ESP_clinvar_20171029_hg19=,0.0155;AF_EXAC_clinvar_20171029_hg19=,0.01443;AF_TGP_clinvar_20171029_hg19=,0.0076;ALLELEID_clinvar_20171029_hg19=,56687;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0231;AN=2;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_597681.4:p.Val2777Phe|_NP_596870.2:p.Val2823Phe|_NP_003310.4:p.Val2777Phe|_NP_001254479.2:p.Val2823Phe|_NP_001243779.1:p.Val2823Phe|_NP_597676.3:p.Val2777Phe|_NP_596869.4:p.Val2823Phe;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Val2823Phe;BaseQRankSum=,0.18;CAF_dbsnp_common_v150_hg19_refseq=,0.9924|0.007588;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1837342|OMIM:608807|Orphanet:ORPHA140922|MedGen:C1858763|OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNDN_clinvar_20171029_hg19=,Limb-girdle_muscular_dystrophy|_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179634961C>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,UniProtKB_(protein):Q8WZ42#VAR_040115;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.8467G>T|_NM_001267550.2:c.8467G>T|_NM_003319.4:c.8329G>T|_NM_133378.4:c.8467G>T|_NM_133379.4:c.8467G>T|_NM_133432.3:c.8329G>T|_NM_133437.4:c.8329G>T;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.8467G>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0179;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,121;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,A/C;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2|NM_133379.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987|rna8988;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179634961;RS_dbsnp_common_v150_hg19_refseq=,33917087;Read_count=,94;Read_coverage=,220;Read_direction_test_probability=,0.9992648843639405;Read_position_test_probability=,0.9807224390799999;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2|NM_133379.4;Reverse_read_coverage=,99;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0031;SF=27,36;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.981695|0.0183048;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050328000a05040536000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.97;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2|Genbank:NM_133379.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC|titin|_transcript_variant_novex-3;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2|NM_133379.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon35:c.G8329T:p.V2777F,TTN:NM_133432:exon35:c.G8329T:p.V2777F,TTN:NM_133437:exon35:c.G8329T:p.V2777F,TTN:NM_001256850:exon36:c.G8467T:p.V2823F,TTN:NM_001267550:exon36:c.G8467T:p.V2823F,TTN:NM_133378:exon36:c.G8467T:p.V2823F,TTN:NM_133379:exon36:c.G8467T:p.V2823F;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0155;esp6500siv2_ea=0.0220;esp6500siv2_all=0.0155;esp6500siv2_ea=0.0220;1000g2015aug_all=0.00758786;avsnp147=rs33917087;Kaviar_AF=0.015058;Kaviar_AC=2328;Kaviar_AN=154602;ExAC_ALL=0.0144;ExAC_AFR=0.0023;ExAC_AMR=0.0074;ExAC_EAS=0.0002;ExAC_FIN=0.0242;ExAC_NFE=0.0212;ExAC_OTH=0.0198;ExAC_SAS=0.0027;CLNALLELEID=56687;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.193;SIFT_pred=T;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.99;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=0.994;MutationTaster_pred=D;MutationAssessor_score=2.33;MutationAssessor_pred=M;FATHMM_score=-0.26;FATHMM_pred=T;PROVEAN_score=-3.22;PROVEAN_pred=D;VEST3_score=0.514;CADD_raw=2.904;CADD_phred=21.9;DANN_score=0.943;fathmm-MKL_coding_score=0.947;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.006;MetaSVM_pred=T;MetaLR_score=0.349;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=6.06;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.969;phastCons20way_mammalian=0.857;SiPhy_29way_logOdds=20.628;GDI_full_10282015=.;dpsi_max_tissue=-0.0889;dpsi_zscore=-0.415;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0144;gnomAD_exome_AFR=0.0025;gnomAD_exome_AMR=0.0087;gnomAD_exome_ASJ=0.0042;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0.0242;gnomAD_exome_NFE=0.0222;gnomAD_exome_OTH=0.0151;gnomAD_exome_SAS=0.0023;gnomAD_genome_ALL=0.0156;gnomAD_genome_AFR=0.0034;gnomAD_genome_AMR=0.0215;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0186;gnomAD_genome_NFE=0.0231;gnomAD_genome_OTH=0.0234;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-10 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:206:0,89 . . . . . . . . 1:144:0,61 . . . . . 2 179637861 47451;rs56142888 C G 154.61 . #_unique_end_positions=,36;#_unique_start_positions=,31;AC=4;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0023;AF_ESP_clinvar_20171029_hg19=,0.0330;AF_EXAC_clinvar_20171029_hg19=,0.07135;AF_TGP_clinvar_20171029_hg19=,0.0755;ALLELEID_clinvar_20171029_hg19=,56615;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1715;AN=4;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_597681.4:p.Met2564Ile|_NP_596870.2:p.Met2610Ile|_NP_001243779.1:p.Met2610Ile|_NP_003310.4:p.Met2564Ile|_NP_001254479.2:p.Met2610Ile|_NP_597676.3:p.Met2564Ile|_NP_596869.4:p.Met2610Ile;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Met2610Ile;BaseQRankSum=,0.22;CAF_dbsnp_common_v150_hg19_refseq=,0.9245|0.07548;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179637861C>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:27410|UniProtKB_(protein):Q8WZ42#VAR_040113;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.7830G>C|_NM_001267550.2:c.7830G>C|_NM_003319.4:c.7692G>C|_NM_133378.4:c.7830G>C|_NM_133379.4:c.7830G>C|_NM_133432.3:c.7692G>C|_NM_133437.4:c.7692G>C;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.7830G>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1905;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0487;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,46;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,C/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2|NM_133379.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987|rna8988;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179637861;RS_dbsnp_common_v150_hg19_refseq=,56142888;Read_count=,47;Read_coverage=,86;Read_direction_test_probability=,0.9789817313413647;Read_position_test_probability=,0.6876365338060622;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2|NM_133379.4;Reverse_read_coverage=,40;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0153;SF=14,19,25,29;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.961501|0.0384985;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128000a05150436000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.977;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2|Genbank:NM_133379.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC|titin|_transcript_variant_novex-3;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2|NM_133379.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon32:c.G7692C:p.M2564I,TTN:NM_133432:exon32:c.G7692C:p.M2564I,TTN:NM_133437:exon32:c.G7692C:p.M2564I,TTN:NM_001256850:exon33:c.G7830C:p.M2610I,TTN:NM_001267550:exon33:c.G7830C:p.M2610I,TTN:NM_133378:exon33:c.G7830C:p.M2610I,TTN:NM_133379:exon33:c.G7830C:p.M2610I;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.033;esp6500siv2_ea=0.0433;esp6500siv2_all=0.033;esp6500siv2_ea=0.0433;1000g2015aug_all=0.0754792;avsnp147=rs56142888;Kaviar_AF=0.068796;Kaviar_AC=10636;Kaviar_AN=154602;ExAC_ALL=0.0714;ExAC_AFR=0.0102;ExAC_AMR=0.2572;ExAC_EAS=0.2074;ExAC_FIN=0.0573;ExAC_NFE=0.0458;ExAC_OTH=0.0489;ExAC_SAS=0.0183;CLNALLELEID=56615;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.339;SIFT_pred=T;Polyphen2_HDIV_score=0.004;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.005;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=1.07;FATHMM_pred=T;PROVEAN_score=-1.26;PROVEAN_pred=N;VEST3_score=0.387;CADD_raw=1.057;CADD_phred=10.98;DANN_score=0.920;fathmm-MKL_coding_score=0.853;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.071;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.516;integrated_confidence_value=0;GERP++_RS=4.71;phyloP7way_vertebrate=0.008;phyloP20way_mammalian=0.077;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=0.980;SiPhy_29way_logOdds=4.003;GDI_full_10282015=.;dpsi_max_tissue=-1.5529;dpsi_zscore=-1.739;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0782;gnomAD_exome_AFR=0.0107;gnomAD_exome_AMR=0.2400;gnomAD_exome_ASJ=0.0484;gnomAD_exome_EAS=0.2023;gnomAD_exome_FIN=0.0535;gnomAD_exome_NFE=0.0442;gnomAD_exome_OTH=0.0697;gnomAD_exome_SAS=0.0185;gnomAD_genome_ALL=0.0490;gnomAD_genome_AFR=0.0129;gnomAD_genome_AMR=0.1993;gnomAD_genome_ASJ=0.0530;gnomAD_genome_EAS=0.1855;gnomAD_genome_FIN=0.0601;gnomAD_genome_NFE=0.0442;gnomAD_genome_OTH=0.0481;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 . . . . . . . . . . . . . . 1:78:0,44 . . . . 1:41:0,20 . . . . . 1:35:0,12 . . . 1:55:0,31 . . . . . . . . . . . . 2 179638238 47420;rs2291306 G A 200.00 . #_unique_end_positions=,34;#_unique_start_positions=,29;AC=5;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0809;AF_ESP_clinvar_20171029_hg19=,0.1018;AF_EXAC_clinvar_20171029_hg19=,0.09155;AF_TGP_clinvar_20171029_hg19=,0.0755;ALLELEID_clinvar_20171029_hg19=,56585;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0706;AN=5;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.9245|0.07548;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179638238G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:26998;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.7545C>T|_NM_001267550.2:c.7545C>T|_NM_003319.4:c.7407C>T|_NM_133378.4:c.7545C>T|_NM_133379.4:c.7545C>T|_NM_133432.3:c.7407C>T|_NM_133437.4:c.7407C>T;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.7545C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0218;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0954;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,58;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2|NM_133379.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987|rna8988;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179638238;RS_dbsnp_common_v150_hg19_refseq=,2291306;Read_count=,58;Read_coverage=,110;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9780697082092408;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2|NM_133379.4;Reverse_read_coverage=,52;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1063;SF=8,15,18,37,39;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.913181|0.0868191;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050328000305150537000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.102041;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0929204;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.0365854;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.0176471;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.153409;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0232558;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.00581395;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.0444444;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.0804196;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.113636;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0619469;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.998;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2|Genbank:NM_133379.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC|titin|_transcript_variant_novex-3;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2|NM_133379.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon31:c.C7407T:p.Y2469Y,TTN:NM_133432:exon31:c.C7407T:p.Y2469Y,TTN:NM_133437:exon31:c.C7407T:p.Y2469Y,TTN:NM_001256850:exon32:c.C7545T:p.Y2515Y,TTN:NM_001267550:exon32:c.C7545T:p.Y2515Y,TTN:NM_133378:exon32:c.C7545T:p.Y2515Y,TTN:NM_133379:exon32:c.C7545T:p.Y2515Y;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.1018;esp6500siv2_ea=0.1147;esp6500siv2_all=0.1018;esp6500siv2_ea=0.1147;1000g2015aug_all=0.0754792;avsnp147=rs2291306;Kaviar_AF=0.0923533;Kaviar_AC=14278;Kaviar_AN=154602;ExAC_ALL=0.0915;ExAC_AFR=0.0778;ExAC_AMR=0.0436;ExAC_EAS=0.0230;ExAC_FIN=0.0926;ExAC_NFE=0.1080;ExAC_OTH=0.0892;ExAC_SAS=0.1023;CLNALLELEID=56585;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0152;dpsi_zscore=-0.073;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0906;gnomAD_exome_AFR=0.0762;gnomAD_exome_AMR=0.0463;gnomAD_exome_ASJ=0.0713;gnomAD_exome_EAS=0.0222;gnomAD_exome_FIN=0.0994;gnomAD_exome_NFE=0.1125;gnomAD_exome_OTH=0.0912;gnomAD_exome_SAS=0.1048;gnomAD_genome_ALL=0.0942;gnomAD_genome_AFR=0.0782;gnomAD_genome_AMR=0.0382;gnomAD_genome_ASJ=0.0662;gnomAD_genome_EAS=0.0254;gnomAD_genome_FIN=0.0982;gnomAD_genome_NFE=0.1134;gnomAD_genome_OTH=0.0980;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 . . . . . . . . 1:105:0,54 . . . . . . 1:90:0,39 . . 1:83:0,32 . . . . . . . . . . . . . . . . . . 1:94:0,40 . 1:82:0,34 . . 2 179638721 47377;rs4894048 C T 200.00 . #_unique_end_positions=,49;#_unique_start_positions=,30;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0915;AF_ESP_clinvar_20171029_hg19=,0.0468;AF_EXAC_clinvar_20171029_hg19=,0.06532;AF_TGP_clinvar_20171029_hg19=,0.0875;ALLELEID_clinvar_20171029_hg19=,56542;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1599;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_596869.4:p.Gly2392Ser|_NP_001243779.1:p.Gly2392Ser|_NP_001254479.2:p.Gly2392Ser|_NP_597676.3:p.Gly2346Ser|_NP_597681.4:p.Gly2346Ser|_NP_003310.4:p.Gly2346Ser|_NP_596870.2:p.Gly2392Ser;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Gly2392Ser;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.9125|0.08746;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179638721C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:88196|UniProtKB_(protein):Q8WZ42#VAR_040111;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.7174G>A|_NM_001267550.2:c.7174G>A|_NM_003319.4:c.7036G>A|_NM_133378.4:c.7174G>A|_NM_133379.4:c.7174G>A|_NM_133432.3:c.7036G>A|_NM_133437.4:c.7036G>A;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.7174G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0149;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0358;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,82;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2|NM_133379.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987|rna8988;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179638721;RS_dbsnp_common_v150_hg19_refseq=,4894048;Read_count=,67;Read_coverage=,131;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9960315881908175;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2|NM_133379.4;Reverse_read_coverage=,49;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1585;SF=17;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.938354|0.0616457;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050328000a05150537000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.173469;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0176991;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.0243902;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.0235294;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.142045;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0116279;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.0777778;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.17;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.0244755;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.0170455;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0929204;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2|Genbank:NM_133379.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC|titin|_transcript_variant_novex-3;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2|NM_133379.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon30:c.G7036A:p.G2346S,TTN:NM_133432:exon30:c.G7036A:p.G2346S,TTN:NM_133437:exon30:c.G7036A:p.G2346S,TTN:NM_001256850:exon31:c.G7174A:p.G2392S,TTN:NM_001267550:exon31:c.G7174A:p.G2392S,TTN:NM_133378:exon31:c.G7174A:p.G2392S,TTN:NM_133379:exon31:c.G7174A:p.G2392S;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0468;esp6500siv2_ea=0.0221;esp6500siv2_all=0.0468;esp6500siv2_ea=0.0221;1000g2015aug_all=0.0874601;avsnp147=rs4894048;Kaviar_AF=0.0620238;Kaviar_AC=9589;Kaviar_AN=154602;ExAC_ALL=0.0653;ExAC_AFR=0.0952;ExAC_AMR=0.1909;ExAC_EAS=0.0179;ExAC_FIN=0.0575;ExAC_NFE=0.0248;ExAC_OTH=0.0694;ExAC_SAS=0.1502;CLNALLELEID=56542;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.039;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.877;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_pred=.;MutationTaster_score=0.907;MutationTaster_pred=P;MutationAssessor_score=3.065;MutationAssessor_pred=M;FATHMM_score=-1.54;FATHMM_pred=D;PROVEAN_score=-3.57;PROVEAN_pred=D;VEST3_score=0.144;CADD_raw=2.444;CADD_phred=19.10;DANN_score=0.938;fathmm-MKL_coding_score=0.933;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.660;MetaSVM_pred=T;MetaLR_score=0.035;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=4.86;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.069;phastCons7way_vertebrate=0.999;phastCons20way_mammalian=0.889;SiPhy_29way_logOdds=15.039;GDI_full_10282015=.;dpsi_max_tissue=-0.4225;dpsi_zscore=-1.009;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0703;gnomAD_exome_AFR=0.0936;gnomAD_exome_AMR=0.1886;gnomAD_exome_ASJ=0.0330;gnomAD_exome_EAS=0.0188;gnomAD_exome_FIN=0.0562;gnomAD_exome_NFE=0.0234;gnomAD_exome_OTH=0.0599;gnomAD_exome_SAS=0.1519;gnomAD_genome_ALL=0.0505;gnomAD_genome_AFR=0.0921;gnomAD_genome_AMR=0.1683;gnomAD_genome_ASJ=0.0233;gnomAD_genome_EAS=0.0223;gnomAD_genome_FIN=0.0539;gnomAD_genome_NFE=0.0225;gnomAD_genome_OTH=0.0509;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . 1:130:0,66 . . . . . . . . . . . . . . . . . . . . . . . . 2 179639143 . GA TT 200.00 . #_unique_end_positions=,19;#_unique_start_positions=,18;AC=1;AN=1;Amino_acid_change=,NP_001243779.1:p.Ser2283Lys|_NP_001254479.2:p.Ser2283Lys|_NP_003310.4:p.Ser2237Lys|_NP_596869.4:p.Ser2283Lys|_NP_597676.3:p.Ser2237Lys|_NP_597681.4:p.Ser2237Lys|_NP_596870.2:p.Ser2283Lys;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Ser2283Lys;BaseQRankSum=,-0.08;Coding_region_change=,NM_001256850.1:c.6847_6848delinsAA|_NM_001267550.2:c.6847_6848delinsAA|_NM_003319.4:c.6709_6710delinsAA|_NM_133378.4:c.6847_6848delinsAA|_NM_133379.4:c.6847_6848delinsAA|_NM_133432.3:c.6709_6710delinsAA|_NM_133437.4:c.6709_6710delinsAA;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.6847_6848delinsAA;Forward_read_coverage=,11;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,complex;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2|NM_133379.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987|rna8988;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;Read_count=,23;Read_coverage=,54;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.6312276614474188;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2|NM_133379.4;Reverse_read_coverage=,43;SF=15;conservation_score=,1.0;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2|Genbank:NM_133379.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC|titin|_transcript_variant_novex-3;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2|NM_133379.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonframeshift_substitution;AAChange.refGene=TTN:NM_003319:exon29:c.6709_6710AA,TTN:NM_133432:exon29:c.6709_6710AA,TTN:NM_133437:exon29:c.6709_6710AA,TTN:NM_001256850:exon30:c.6847_6848AA,TTN:NM_001267550:exon30:c.6847_6848AA,TTN:NM_133378:exon30:c.6847_6848AA,TTN:NM_133379:exon30:c.6847_6848AA;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . . . . . . . . 1:50:0,22 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 179641975 47098;rs12476289 C T 200.00 . #_unique_end_positions=,55;#_unique_start_positions=,39;AC=4;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0023;AF_ESP_clinvar_20171029_hg19=,0.0330;AF_EXAC_clinvar_20171029_hg19=,0.07112;AF_TGP_clinvar_20171029_hg19=,0.0753;ALLELEID_clinvar_20171029_hg19=,56263;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1715;AN=4;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_596869.4:p.Arg1572Gln|_NP_596870.2:p.Arg1572Gln|_NP_597681.4:p.Arg1526Gln|_NP_001243779.1:p.Arg1572Gln|_NP_001254479.2:p.Arg1572Gln|_NP_597676.3:p.Arg1526Gln|_NP_003310.4:p.Arg1526Gln;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Arg1572Gln;BaseQRankSum=,-0.7;CAF_dbsnp_common_v150_hg19_refseq=,0.9247|.|0.07528;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179641975C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:27433|UniProtKB_(protein):Q8WZ42#VAR_040099;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.4715G>A|_NM_001267550.2:c.4715G>A|_NM_003319.4:c.4577G>A|_NM_133378.4:c.4715G>A|_NM_133379.4:c.4715G>A|_NM_133432.3:c.4577G>A|_NM_133437.4:c.4577G>A;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.4715G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1895;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0487;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,77;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273|LOC101927055:101927055;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273|GeneID:101927055;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273|GeneID:101927055;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN|LOC101927055;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2|NM_133379.4|NR_120594.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049|gene6050;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987|rna8988|rna8989;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;MTP_dbsnp_common_v150_hg19_refseq=,MTP;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049|gene6050;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179641975;RS_dbsnp_common_v150_hg19_refseq=,12476289;Read_count=,72;Read_coverage=,132;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9618511741991753;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2|NM_133379.4|NR_120594.1;Reverse_read_coverage=,55;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0153;SF=14,19,25,29;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.961605|.|0.0383955;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050328000a05150537020101;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0803571;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.182927;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.0114943;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.22093;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.217647;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.011236;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.18;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.0406977;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.00925926;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840|GeneID:101927055;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2|Genbank:NM_133379.4|Genbank:NR_120594.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin|uncharacterized_LOC101927055;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA|ncRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN|LOC101927055;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN|LOC101927055;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding|lncRNA;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC|titin|_transcript_variant_novex-3|uncharacterized_LOC101927055;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2|NM_133379.4|NR_120594.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA|lnc_RNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon26:c.G4577A:p.R1526Q,TTN:NM_133432:exon26:c.G4577A:p.R1526Q,TTN:NM_133437:exon26:c.G4577A:p.R1526Q,TTN:NM_001256850:exon27:c.G4715A:p.R1572Q,TTN:NM_001267550:exon27:c.G4715A:p.R1572Q,TTN:NM_133378:exon27:c.G4715A:p.R1572Q,TTN:NM_133379:exon27:c.G4715A:p.R1572Q;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0330;esp6500siv2_ea=0.0430;esp6500siv2_all=0.0330;esp6500siv2_ea=0.0430;1000g2015aug_all=0.0752796;avsnp147=rs12476289;Kaviar_AF=0.0688154;Kaviar_AC=10639;Kaviar_AN=154602;ExAC_ALL=0.0711;ExAC_AFR=0.0105;ExAC_AMR=0.2578;ExAC_EAS=0.2063;ExAC_FIN=0.0573;ExAC_NFE=0.0456;ExAC_OTH=0.0496;ExAC_SAS=0.0184;CLNALLELEID=56263;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.605;SIFT_pred=T;Polyphen2_HDIV_score=0.813;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.23;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.999;MutationTaster_pred=P;MutationAssessor_score=0.69;MutationAssessor_pred=N;FATHMM_score=1.0;FATHMM_pred=T;PROVEAN_score=-2.06;PROVEAN_pred=N;VEST3_score=0.255;CADD_raw=2.306;CADD_phred=18.21;DANN_score=0.977;fathmm-MKL_coding_score=0.733;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.051;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.516;integrated_confidence_value=0;GERP++_RS=5.0;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.979;phastCons20way_mammalian=0.934;SiPhy_29way_logOdds=7.247;GDI_full_10282015=.;dpsi_max_tissue=-0.0690;dpsi_zscore=-0.344;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0783;gnomAD_exome_AFR=0.0107;gnomAD_exome_AMR=0.2403;gnomAD_exome_ASJ=0.0485;gnomAD_exome_EAS=0.2011;gnomAD_exome_FIN=0.0536;gnomAD_exome_NFE=0.0442;gnomAD_exome_OTH=0.0699;gnomAD_exome_SAS=0.0185;gnomAD_genome_ALL=0.0488;gnomAD_genome_AFR=0.0131;gnomAD_genome_AMR=0.1974;gnomAD_genome_ASJ=0.0530;gnomAD_genome_EAS=0.1849;gnomAD_genome_FIN=0.0601;gnomAD_genome_NFE=0.0440;gnomAD_genome_OTH=0.0479;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 . . . . . . . . . . . . . . 1:124:0,68 . . . . 1:62:0,30 . . . . . 1:83:0,43 . . . 1:83:0,41 . . . . . . . . . . . . 2 179642589 47046;rs72647876 C G 200.00 . #_unique_end_positions=,27;#_unique_start_positions=,27;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0008;AF_ESP_clinvar_20171029_hg19=,0.0058;AF_EXAC_clinvar_20171029_hg19=,0.01113;AF_TGP_clinvar_20171029_hg19=,0.0104;ALLELEID_clinvar_20171029_hg19=,56211;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0101;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_003310.4:p.Arg1395Pro|_NP_001254479.2:p.Arg1441Pro|_NP_596870.2:p.Arg1441Pro|_NP_597676.3:p.Arg1395Pro|_NP_597681.4:p.Arg1395Pro|_NP_596869.4:p.Arg1441Pro|_NP_001243779.1:p.Arg1441Pro;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Arg1441Pro;BaseQRankSum=,-0.24;CAF_dbsnp_common_v150_hg19_refseq=,0.9892|0.01038|0.0003994;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1837342|OMIM:608807|Orphanet:ORPHA140922|MedGen:C1858763|OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNDN_clinvar_20171029_hg19=,Limb-girdle_muscular_dystrophy|_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179642589C>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,UniProtKB_(protein):Q8WZ42#VAR_040097;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.4322G>C|_NM_001267550.2:c.4322G>C|_NM_003319.4:c.4184G>C|_NM_133378.4:c.4322G>C|_NM_133379.4:c.4322G>C|_NM_133432.3:c.4184G>C|_NM_133437.4:c.4184G>C;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.4322G>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0159;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0119;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,32;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273|LOC101927055:101927055;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273|GeneID:101927055;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273|GeneID:101927055;Genotype=,C/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN|LOC101927055;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2|NM_133379.4|NR_120594.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049|gene6050;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987|rna8988|rna8989;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049|gene6050;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179642589;RS_dbsnp_common_v150_hg19_refseq=,72647876;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,43;Read_coverage=,90;Read_direction_test_probability=,0.9957859194741108;Read_position_test_probability=,0.9801495472057206;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2|NM_133379.4|NR_120594.1;Reverse_read_coverage=,58;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0164;SF=12;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.995364|0.00463631|.;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050368000a05140436100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840|GeneID:101927055;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2|Genbank:NM_133379.4|Genbank:NR_120594.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin|uncharacterized_LOC101927055;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA|ncRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN|LOC101927055;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN|LOC101927055;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding|lncRNA;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC|titin|_transcript_variant_novex-3|uncharacterized_LOC101927055;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2|NM_133379.4|NR_120594.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA|lnc_RNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon24:c.G4184C:p.R1395P,TTN:NM_133432:exon24:c.G4184C:p.R1395P,TTN:NM_133437:exon24:c.G4184C:p.R1395P,TTN:NM_001256850:exon25:c.G4322C:p.R1441P,TTN:NM_001267550:exon25:c.G4322C:p.R1441P,TTN:NM_133378:exon25:c.G4322C:p.R1441P,TTN:NM_133379:exon25:c.G4322C:p.R1441P;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0058;esp6500siv2_ea=0.0076;esp6500siv2_all=0.0058;esp6500siv2_ea=0.0076;1000g2015aug_all=0.0103834;avsnp147=rs72647876;Kaviar_AF=0.010375;Kaviar_AC=1604;Kaviar_AN=154602;ExAC_ALL=0.0111;ExAC_AFR=0.0012;ExAC_AMR=0.0060;ExAC_EAS=0.0088;ExAC_FIN=0.0180;ExAC_NFE=0.0116;ExAC_OTH=0.0132;ExAC_SAS=0.0174;CLNALLELEID=56211;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.095;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=1.0;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=1.655;MutationAssessor_pred=L;FATHMM_score=0.24;FATHMM_pred=T;PROVEAN_score=-4.14;PROVEAN_pred=D;VEST3_score=0.767;CADD_raw=4.261;CADD_phred=23.9;DANN_score=0.959;fathmm-MKL_coding_score=0.987;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.403;MetaSVM_pred=T;MetaLR_score=0.249;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.45;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=19.254;GDI_full_10282015=.;dpsi_max_tissue=-0.0044;dpsi_zscore=-0.001;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0110;gnomAD_exome_AFR=0.0013;gnomAD_exome_AMR=0.0074;gnomAD_exome_ASJ=0.0081;gnomAD_exome_EAS=0.0088;gnomAD_exome_FIN=0.0198;gnomAD_exome_NFE=0.0106;gnomAD_exome_OTH=0.0097;gnomAD_exome_SAS=0.0170;gnomAD_genome_ALL=0.0077;gnomAD_genome_AFR=0.0015;gnomAD_genome_AMR=0.0084;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0.0099;gnomAD_genome_FIN=0.0166;gnomAD_genome_NFE=0.0089;gnomAD_genome_OTH=0.0081;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-10 GT:DP:CLCAD2 . . . . . . . . . . . . 1:85:0,40 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2 179643775 47018;rs36021856 C T 200.00 . #_unique_end_positions=,31;#_unique_start_positions=,21;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0051;AF_EXAC_clinvar_20171029_hg19=,0.00993;AF_TGP_clinvar_20171029_hg19=,0.0038;ALLELEID_clinvar_20171029_hg19=,56183;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0043;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001243779.1:p.Gly1345Asp|_NP_597676.3:p.Gly1299Asp|_NP_597681.4:p.Gly1299Asp|_NP_596869.4:p.Gly1345Asp|_NP_003310.4:p.Gly1299Asp|_NP_001254479.2:p.Gly1345Asp|_NP_596870.2:p.Gly1345Asp;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Gly1345Asp;BaseQRankSum=,-0.02;CAF_dbsnp_common_v150_hg19_refseq=,0.9962|0.003794;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1837342|OMIM:608807|Orphanet:ORPHA140922|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1858763|OMIM:604145|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy|_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179643775C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:125628|UniProtKB_(protein):Q8WZ42#VAR_040091;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.4034G>A|_NM_001267550.2:c.4034G>A|_NM_003319.4:c.3896G>A|_NM_133378.4:c.4034G>A|_NM_133379.4:c.4034G>A|_NM_133432.3:c.3896G>A|_NM_133437.4:c.3896G>A;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.4034G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0159;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,32;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273|LOC101927055:101927055;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273|GeneID:101927055;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN|LOC101927055;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2|NM_133379.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049|gene6050;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987|rna8988;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179643775;RS_dbsnp_common_v150_hg19_refseq=,36021856;Read_count=,38;Read_coverage=,81;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9372149465300914;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2|NM_133379.4;Reverse_read_coverage=,49;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=2;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.99684|0.00315956;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050228080a05040536000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840|GeneID:101927055;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2|Genbank:NM_133379.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin|uncharacterized_LOC101927055;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN|LOC101927055;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding|lncRNA;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC|titin|_transcript_variant_novex-3;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2|NM_133379.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon23:c.G3896A:p.G1299D,TTN:NM_133432:exon23:c.G3896A:p.G1299D,TTN:NM_133437:exon23:c.G3896A:p.G1299D,TTN:NM_001256850:exon24:c.G4034A:p.G1345D,TTN:NM_001267550:exon24:c.G4034A:p.G1345D,TTN:NM_133378:exon24:c.G4034A:p.G1345D,TTN:NM_133379:exon24:c.G4034A:p.G1345D;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0051;esp6500siv2_ea=0.0073;esp6500siv2_all=0.0051;esp6500siv2_ea=0.0073;1000g2015aug_all=0.00379393;avsnp147=rs36021856;Kaviar_AF=0.0088356;Kaviar_AC=1366;Kaviar_AN=154602;ExAC_ALL=0.0099;ExAC_AFR=0.0013;ExAC_AMR=0.0017;ExAC_EAS=0;ExAC_FIN=0.0766;ExAC_NFE=0.0096;ExAC_OTH=0.0220;ExAC_SAS=0.0005;CLNALLELEID=56183;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.268;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=1.0;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=2.38;MutationAssessor_pred=M;FATHMM_score=-0.24;FATHMM_pred=T;PROVEAN_score=-4.56;PROVEAN_pred=D;VEST3_score=0.783;CADD_raw=3.042;CADD_phred=22.4;DANN_score=0.965;fathmm-MKL_coding_score=0.983;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.120;MetaSVM_pred=T;MetaLR_score=0.356;MetaLR_pred=T;integrated_fitCons_score=0.497;integrated_confidence_value=0;GERP++_RS=5.72;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.852;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=19.895;GDI_full_10282015=.;dpsi_max_tissue=0.0046;dpsi_zscore=0.032;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM1516206#"Cardiomyopathy_dilated";gnomAD_exome_ALL=0.0108;gnomAD_exome_AFR=0.0012;gnomAD_exome_AMR=0.0018;gnomAD_exome_ASJ=0.0008;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0697;gnomAD_exome_NFE=0.0084;gnomAD_exome_OTH=0.0110;gnomAD_exome_SAS=0.0007;gnomAD_genome_ALL=0.0167;gnomAD_genome_AFR=0.0007;gnomAD_genome_AMR=0.0036;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0665;gnomAD_genome_NFE=0.0162;gnomAD_genome_OTH=0.0316;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-4 GT:DP:CLCAD2 . . 1:73:0,35 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2 179644035 47001;rs1552280 G A 116.29 . #_unique_end_positions=,33;#_unique_start_positions=,25;AC=84;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.8495;ALLELEID_clinvar_20171029_hg19=,56166;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9496;AN=84;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_003310.4:p.Ser1249Leu|_NP_596869.4:p.Ser1295Leu|_NP_001243779.1:p.Ser1295Leu|_NP_597681.4:p.Ser1249Leu|_NP_597676.3:p.Ser1249Leu|_NP_596870.2:p.Ser1295Leu|_NP_001254479.2:p.Ser1295Leu;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Ser1295Leu;CAF_dbsnp_common_v150_hg19_refseq=,0.07987|0.9201;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179644035G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:27035|UniProtKB_(protein):Q8WZ42#VAR_040090;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.3884C>T|_NM_001267550.2:c.3884C>T|_NM_003319.4:c.3746C>T|_NM_133378.4:c.3884C>T|_NM_133379.4:c.3884C>T|_NM_133432.3:c.3746C>T|_NM_133437.4:c.3746C>T;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.3884C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.8829;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9920;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,15;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273|LOC101927055:101927055;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273|GeneID:101927055;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,A/A;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN|LOC101927055;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2|NM_133379.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049|gene6050;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987|rna8988;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,143.41805913471268;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179644035;RS_dbsnp_common_v150_hg19_refseq=,1552280;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,43;Read_coverage=,43;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2|NM_133379.4;Reverse_read_coverage=,28;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9591;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.0762415|0.923758;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050328080a0515053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.908163;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,1;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.926829;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.882353;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.982955;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.865854;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.796512;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.838889;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.918367;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.832168;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.875;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.761;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840|GeneID:101927055;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2|Genbank:NM_133379.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin|uncharacterized_LOC101927055;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN|LOC101927055;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding|lncRNA;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC|titin|_transcript_variant_novex-3;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2|NM_133379.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon22:c.C3746T:p.S1249L,TTN:NM_133432:exon22:c.C3746T:p.S1249L,TTN:NM_133437:exon22:c.C3746T:p.S1249L,TTN:NM_001256850:exon23:c.C3884T:p.S1295L,TTN:NM_001267550:exon23:c.C3884T:p.S1295L,TTN:NM_133378:exon23:c.C3884T:p.S1295L,TTN:NM_133379:exon23:c.C3884T:p.S1295L;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.9509;esp6500siv2_ea=0.9914;esp6500siv2_all=0.9509;esp6500siv2_ea=0.9914;1000g2015aug_all=0.920128;avsnp147=rs1552280;Kaviar_AF=0.956534;Kaviar_AC=147882;Kaviar_AN=154602;ExAC_ALL=0.9606;ExAC_AFR=0.8686;ExAC_AMR=0.9322;ExAC_EAS=0.8766;ExAC_FIN=0.9809;ExAC_NFE=0.9890;ExAC_OTH=0.9636;ExAC_SAS=0.9583;CLNALLELEID=56166;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.636;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=0.355;MutationAssessor_pred=N;FATHMM_score=-0.27;FATHMM_pred=T;PROVEAN_score=3.01;PROVEAN_pred=N;VEST3_score=0.093;CADD_raw=2.581;CADD_phred=19.99;DANN_score=0.969;fathmm-MKL_coding_score=0.732;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.961;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.516;integrated_confidence_value=0;GERP++_RS=5.72;phyloP7way_vertebrate=0.125;phyloP20way_mammalian=0.168;phastCons7way_vertebrate=0.984;phastCons20way_mammalian=0.977;SiPhy_29way_logOdds=11.842;GDI_full_10282015=.;dpsi_max_tissue=-0.5504;dpsi_zscore=-1.141;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.9623;gnomAD_exome_AFR=0.8703;gnomAD_exome_AMR=0.9394;gnomAD_exome_ASJ=0.9920;gnomAD_exome_EAS=0.8800;gnomAD_exome_FIN=0.9778;gnomAD_exome_NFE=0.9898;gnomAD_exome_OTH=0.9721;gnomAD_exome_SAS=0.9573;gnomAD_genome_ALL=0.9463;gnomAD_genome_AFR=0.8671;gnomAD_genome_AMR=0.9533;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=0.8747;gnomAD_genome_FIN=0.9794;gnomAD_genome_NFE=0.9889;gnomAD_genome_OTH=0.9755;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 1/1:38:0,38 1/1:25:0,25 1/1:34:0,34 1/1:29:0,29 1/1:24:0,24 1/1:17:0,17 1/1:17:0,17 1/1:14:0,14 1/1:25:0,25 1/1:25:0,25 1/1:27:0,27 1/1:31:0,31 1/1:19:0,19 1/1:27:0,27 1/1:37:0,37 1/1:29:0,29 1/1:17:0,17 1/1:33:0,33 1/1:24:0,24 1/1:23:0,23 1/1:50:0,50 1/1:35:0,35 1/1:33:0,33 1/1:29:0,29 1/1:22:0,22 1/1:24:0,24 1/1:38:0,38 1/1:34:0,34 1/1:31:0,31 1/1:31:0,31 1/1:37:0,37 1/1:15:0,15 1/1:26:0,26 1/1:20:0,20 1/1:41:0,41 1/1:31:0,31 1/1:28:0,28 1/1:39:0,39 1/1:25:0,25 1/1:19:0,19 1/1:42:0,42 1/1:31:0,31 2 179644855 46973;rs10497520 T C 163.43 . #_unique_end_positions=,36;#_unique_start_positions=,30;AC=75;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4077;ALLELEID_clinvar_20171029_hg19=,56138;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5086;AN=75;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_596869.4:p.Lys1201Glu|_NP_597676.3:p.Lys1155Glu|_NP_597681.4:p.Lys1155Glu|_NP_003310.4:p.Lys1155Glu|_NP_001243779.1:p.Lys1201Glu|_NP_001254479.2:p.Lys1201Glu|_NP_596870.2:p.Lys1201Glu;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Lys1201Glu;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.4998|0.5002;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179644855T>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:27042|UniProtKB_(protein):Q8WZ42#VAR_040088;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.3601A>G|_NM_001267550.2:c.3601A>G|_NM_003319.4:c.3463A>G|_NM_133378.4:c.3601A>G|_NM_133379.4:c.3601A>G|_NM_133432.3:c.3463A>G|_NM_133437.4:c.3463A>G;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.3601A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2173;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.8569;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,20;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273|LOC101927055:101927055;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,C/C;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2|NM_133379.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987|rna8988;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;R3_dbsnp_common_v150_hg19_refseq=,R3;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179644855;RS_dbsnp_common_v150_hg19_refseq=,10497520;Read_count=,51;Read_coverage=,51;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2|NM_133379.4;Reverse_read_coverage=,31;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5440;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.362559|0.637441;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050328040a0515053f000101;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.438776;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.867257;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.219512;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.14881;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.676136;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.244186;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.19186;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.455056;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.530612;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.672535;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.892045;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.384956;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2|Genbank:NM_133379.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC|titin|_transcript_variant_novex-3;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2|NM_133379.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon21:c.A3463G:p.K1155E,TTN:NM_133432:exon21:c.A3463G:p.K1155E,TTN:NM_133437:exon21:c.A3463G:p.K1155E,TTN:NM_001256850:exon22:c.A3601G:p.K1201E,TTN:NM_001267550:exon22:c.A3601G:p.K1201E,TTN:NM_133378:exon22:c.A3601G:p.K1201E,TTN:NM_133379:exon22:c.A3601G:p.K1201E;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.7349;esp6500siv2_ea=0.8702;esp6500siv2_all=0.7349;esp6500siv2_ea=0.8702;1000g2015aug_all=0.5002;avsnp147=rs10497520;Kaviar_AF=0.70208;Kaviar_AC=108543;Kaviar_AN=154602;ExAC_ALL=0.6944;ExAC_AFR=0.4633;ExAC_AMR=0.3726;ExAC_EAS=0.1991;ExAC_FIN=0.8174;ExAC_NFE=0.8655;ExAC_OTH=0.7561;ExAC_SAS=0.5786;CLNALLELEID=56138;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.43;SIFT_pred=T;Polyphen2_HDIV_score=0.86;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.453;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_pred=.;MutationTaster_score=0.998;MutationTaster_pred=P;MutationAssessor_score=0.695;MutationAssessor_pred=N;FATHMM_score=0.37;FATHMM_pred=T;PROVEAN_score=-2.35;PROVEAN_pred=N;VEST3_score=0.588;CADD_raw=2.524;CADD_phred=19.62;DANN_score=0.973;fathmm-MKL_coding_score=0.978;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.063;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.516;integrated_confidence_value=0;GERP++_RS=4.56;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=0.964;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=12.647;GDI_full_10282015=.;dpsi_max_tissue=0.1415;dpsi_zscore=0.596;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.6885;gnomAD_exome_AFR=0.4591;gnomAD_exome_AMR=0.4009;gnomAD_exome_ASJ=0.8474;gnomAD_exome_EAS=0.2017;gnomAD_exome_FIN=0.8198;gnomAD_exome_NFE=0.8685;gnomAD_exome_OTH=0.7572;gnomAD_exome_SAS=0.5793;gnomAD_genome_ALL=0.7025;gnomAD_genome_AFR=0.4674;gnomAD_genome_AMR=0.4832;gnomAD_genome_ASJ=0.8808;gnomAD_genome_EAS=0.2144;gnomAD_genome_FIN=0.8291;gnomAD_genome_NFE=0.8651;gnomAD_genome_OTH=0.7922;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 1/1:44:0,44 1:37:0,20 1/1:46:0,46 1/1:46:0,46 1/1:39:0,39 1/1:44:0,44 1/1:34:0,34 1/1:45:0,45 1/1:41:0,41 1/1:25:0,25 1/1:65:0,65 1/1:30:0,30 1:51:0,19 1/1:50:0,50 1:66:0,33 1/1:50:0,50 1/1:57:0,57 1:33:0,15 1/1:40:0,40 . 1:61:0,23 1/1:51:0,51 1/1:42:0,42 1/1:44:0,44 1/1:50:0,50 1:33:0,21 1/1:59:0,59 1/1:64:0,64 1/1:72:0,72 1:43:0,21 1/1:47:0,47 1/1:45:0,45 1/1:41:0,41 1/1:45:0,45 1/1:59:0,59 1/1:64:0,64 1/1:49:0,49 1/1:51:0,51 1/1:46:0,46 1/1:35:0,35 1/1:39:0,39 1/1:46:0,46 2 179647546 46907;rs55863869 A G 200.00 . #_unique_end_positions=,56;#_unique_start_positions=,41;AC=5;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0023;AF_ESP_clinvar_20171029_hg19=,0.0363;AF_EXAC_clinvar_20171029_hg19=,0.07451;AF_TGP_clinvar_20171029_hg19=,0.0777;ALLELEID_clinvar_20171029_hg19=,56072;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1715;AN=5;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.47;CAF_dbsnp_common_v150_hg19_refseq=,0.9223|0.07768;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179647546A>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:27466;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.3087T>C|_NM_001267550.2:c.3087T>C|_NM_003319.4:c.2949T>C|_NM_133378.4:c.3087T>C|_NM_133379.4:c.3087T>C|_NM_133432.3:c.2949T>C|_NM_133437.4:c.2949T>C;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.3087T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1944;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0557;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,86;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2|NM_133379.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987|rna8988;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179647546;RS_dbsnp_common_v150_hg19_refseq=,55863869;Read_count=,81;Read_coverage=,147;Read_direction_test_probability=,0.9971802321891367;Read_position_test_probability=,0.8909235349483279;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2|NM_133379.4;Reverse_read_coverage=,61;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0153;SF=11,14,19,25,29;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.959441|0.0405591;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050328000305150436000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.336;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2|Genbank:NM_133379.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC|titin|_transcript_variant_novex-3;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2|NM_133379.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon17:c.T2949C:p.Y983Y,TTN:NM_133432:exon17:c.T2949C:p.Y983Y,TTN:NM_133437:exon17:c.T2949C:p.Y983Y,TTN:NM_001256850:exon18:c.T3087C:p.Y1029Y,TTN:NM_001267550:exon18:c.T3087C:p.Y1029Y,TTN:NM_133378:exon18:c.T3087C:p.Y1029Y,TTN:NM_133379:exon18:c.T3087C:p.Y1029Y;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0363;esp6500siv2_ea=0.0476;esp6500siv2_all=0.0363;esp6500siv2_ea=0.0476;1000g2015aug_all=0.0776757;avsnp147=rs55863869;Kaviar_AF=0.0718878;Kaviar_AC=11114;Kaviar_AN=154602;ExAC_ALL=0.0745;ExAC_AFR=0.0116;ExAC_AMR=0.2607;ExAC_EAS=0.2090;ExAC_FIN=0.0639;ExAC_NFE=0.0500;ExAC_OTH=0.0530;ExAC_SAS=0.0187;CLNALLELEID=56072;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0295;dpsi_zscore=-0.162;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0814;gnomAD_exome_AFR=0.0116;gnomAD_exome_AMR=0.2418;gnomAD_exome_ASJ=0.0499;gnomAD_exome_EAS=0.2050;gnomAD_exome_FIN=0.0600;gnomAD_exome_NFE=0.0483;gnomAD_exome_OTH=0.0721;gnomAD_exome_SAS=0.0188;gnomAD_genome_ALL=0.0544;gnomAD_genome_AFR=0.0139;gnomAD_genome_AMR=0.2064;gnomAD_genome_ASJ=0.0530;gnomAD_genome_EAS=0.1900;gnomAD_genome_FIN=0.0664;gnomAD_genome_NFE=0.0520;gnomAD_genome_OTH=0.0580;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 . . . . . . . . . . . 1:137:0,73 . . 1:188:0,85 . . . . 1:127:0,61 . . . . . 1:105:0,56 . . . 1:163:0,75 . . . . . . . . . . . . 2 179650408 46805;rs35813871 G A 200.00 . #_unique_end_positions=,39;#_unique_start_positions=,30;AC=27;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0862;AF_ESP_clinvar_20171029_hg19=,0.1897;AF_EXAC_clinvar_20171029_hg19=,0.16907;AF_TGP_clinvar_20171029_hg19=,0.1004;ALLELEID_clinvar_20171029_hg19=,55970;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1499;AN=27;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_596869.4:p.Thr811Ile|_NP_001254479.2:p.Thr811Ile|_NP_596870.2:p.Thr811Ile|_NP_597676.3:p.Thr765Ile|_NP_003310.4:p.Thr765Ile|_NP_597681.4:p.Thr765Ile|_NP_001243779.1:p.Thr811Ile;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Thr811Ile;BaseQRankSum=,-0.1;CAF_dbsnp_common_v150_hg19_refseq=,0.8996|0.1004;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179650408G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:27348|UniProtKB_(protein):Q8WZ42#VAR_040083;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.2432C>T|_NM_001267550.2:c.2432C>T|_NM_003319.4:c.2294C>T|_NM_133378.4:c.2432C>T|_NM_133379.4:c.2432C>T|_NM_133432.3:c.2294C>T|_NM_133437.4:c.2294C>T;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.2432C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2157;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,90;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2|NM_133379.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987|rna8988;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179650408;RS_dbsnp_common_v150_hg19_refseq=,35813871;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,45;Read_coverage=,139;Read_direction_test_probability=,0.5290239821336511;Read_position_test_probability=,0.7601478962065529;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2|NM_133379.4;Reverse_read_coverage=,49;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0685;SF=1,3,4,6,8,9,13,14,16,18,20,21,23,24,25,27,28,29,30,31,32,34,38,40;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.840065|0.159935;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128000a0515053e000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.141667;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0111111;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0666667;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2|Genbank:NM_133379.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC|titin|_transcript_variant_novex-3;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2|NM_133379.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon14:c.C2294T:p.T765I,TTN:NM_133432:exon14:c.C2294T:p.T765I,TTN:NM_133437:exon14:c.C2294T:p.T765I,TTN:NM_001256850:exon15:c.C2432T:p.T811I,TTN:NM_001267550:exon15:c.C2432T:p.T811I,TTN:NM_133378:exon15:c.C2432T:p.T811I,TTN:NM_133379:exon15:c.C2432T:p.T811I;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.1897;esp6500siv2_ea=0.2345;esp6500siv2_all=0.1897;esp6500siv2_ea=0.2345;1000g2015aug_all=0.100439;avsnp147=rs35813871;Kaviar_AF=0.174571;Kaviar_AC=26989;Kaviar_AN=154602;ExAC_ALL=0.1691;ExAC_AFR=0.1061;ExAC_AMR=0.1090;ExAC_EAS=0.0001;ExAC_FIN=0.1225;ExAC_NFE=0.2383;ExAC_OTH=0.1861;ExAC_SAS=0.0771;CLNALLELEID=55970;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.951;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=0.903;MutationTaster_pred=P;MutationAssessor_score=0.895;MutationAssessor_pred=L;FATHMM_score=0.25;FATHMM_pred=T;PROVEAN_score=-3.19;PROVEAN_pred=D;VEST3_score=0.639;CADD_raw=2.681;CADD_phred=20.7;DANN_score=0.939;fathmm-MKL_coding_score=0.948;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.116;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.516;integrated_confidence_value=0;GERP++_RS=5.51;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.999;phastCons20way_mammalian=0.998;SiPhy_29way_logOdds=19.784;GDI_full_10282015=.;dpsi_max_tissue=0.6407;dpsi_zscore=1.263;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1695;gnomAD_exome_AFR=0.1046;gnomAD_exome_AMR=0.1168;gnomAD_exome_ASJ=0.3282;gnomAD_exome_EAS=0.0004;gnomAD_exome_FIN=0.1335;gnomAD_exome_NFE=0.2369;gnomAD_exome_OTH=0.2057;gnomAD_exome_SAS=0.0789;gnomAD_genome_ALL=0.1597;gnomAD_genome_AFR=0.1050;gnomAD_genome_AMR=0.1587;gnomAD_genome_ASJ=0.3675;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.1328;gnomAD_genome_NFE=0.2096;gnomAD_genome_OTH=0.1802;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 . 1:127:0,43 . 1/1:109:0,109 1:99:0,51 . 1:68:0,35 . 1:129:0,57 1:94:0,44 . . . 1:105:0,52 1:140:0,70 . 1:94:0,45 . 1:95:0,41 . 1:129:0,65 1:139:0,56 . 1:135:0,57 1/1:131:0,131 1:82:0,33 . 1:129:0,65 1:145:0,71 1:110:0,53 1/1:118:0,118 1:71:0,36 1:93:0,46 . 1:116:0,50 . . . 1:84:0,35 . 1:136:0,60 . 2 179650701 46774;rs6715406 C T 198.16 . #_unique_end_positions=,87;#_unique_start_positions=,89;AC=31;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1445;AF_ESP_clinvar_20171029_hg19=,0.3360;AF_EXAC_clinvar_20171029_hg19=,0.31922;AF_TGP_clinvar_20171029_hg19=,0.2047;ALLELEID_clinvar_20171029_hg19=,55939;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1916;AN=31;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.16;CAF_dbsnp_common_v150_hg19_refseq=,0.7953|0.2047;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179650701C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:27057;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.2244G>A|_NM_001267550.2:c.2244G>A|_NM_003319.4:c.2106G>A|_NM_133378.4:c.2244G>A|_NM_133379.4:c.2244G>A|_NM_133432.3:c.2106G>A|_NM_133437.4:c.2106G>A;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.2244G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0685;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4135;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,100;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,T/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2|NM_133379.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987|rna8988;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179650701;RS_dbsnp_common_v150_hg19_refseq=,6715406;Read_count=,193;Read_coverage=,193;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2|NM_133379.4;Reverse_read_coverage=,93;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2209;SF=0,2,5,6,7,10,11,15,16,17,23,26,27,28,31,32,33,35,36,38,39,40;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.692939|0.307061;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05012800030515053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.153061;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.415929;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.121951;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.0411765;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.284091;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0348837;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0406977;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.116667;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.21;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.115385;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.380682;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.163717;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2|Genbank:NM_133379.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC|titin|_transcript_variant_novex-3;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2|NM_133379.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon13:c.G2106A:p.E702E,TTN:NM_133432:exon13:c.G2106A:p.E702E,TTN:NM_133437:exon13:c.G2106A:p.E702E,TTN:NM_001256850:exon14:c.G2244A:p.E748E,TTN:NM_001267550:exon14:c.G2244A:p.E748E,TTN:NM_133378:exon14:c.G2244A:p.E748E,TTN:NM_133379:exon14:c.G2244A:p.E748E;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.3360;esp6500siv2_ea=0.4057;esp6500siv2_all=0.3360;esp6500siv2_ea=0.4057;1000g2015aug_all=0.204673;avsnp147=rs6715406;Kaviar_AF=0.322059;Kaviar_AC=49791;Kaviar_AN=154602;ExAC_ALL=0.3192;ExAC_AFR=0.1882;ExAC_AMR=0.1525;ExAC_EAS=0.0707;ExAC_FIN=0.4780;ExAC_NFE=0.4010;ExAC_OTH=0.3656;ExAC_SAS=0.2516;CLNALLELEID=55939;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0894;dpsi_zscore=0.450;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3178;gnomAD_exome_AFR=0.1916;gnomAD_exome_AMR=0.1695;gnomAD_exome_ASJ=0.3298;gnomAD_exome_EAS=0.0725;gnomAD_exome_FIN=0.4680;gnomAD_exome_NFE=0.4034;gnomAD_exome_OTH=0.3388;gnomAD_exome_SAS=0.2536;gnomAD_genome_ALL=0.3392;gnomAD_genome_AFR=0.1907;gnomAD_genome_AMR=0.2189;gnomAD_genome_ASJ=0.3113;gnomAD_genome_EAS=0.0847;gnomAD_genome_FIN=0.4734;gnomAD_genome_NFE=0.4251;gnomAD_genome_OTH=0.3959;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 1/1:160:0,160 . 1/1:151:0,151 . . 1/1:182:0,182 1:131:0,67 1/1:143:0,143 . . 1/1:205:0,205 1:154:0,73 . . . 1:170:0,82 1:189:0,96 1:153:0,90 . . . . . 1:186:0,87 . . 1/1:154:0,154 1:219:0,108 1:235:0,116 . . 1:115:0,58 1:168:0,72 1/1:154:0,154 . 1/1:170:0,170 1/1:143:0,143 . 1:129:0,59 1:166:0,76 1:174:0,82 . 2 179658175 46641;rs72647851 C T 200.00 . #_unique_end_positions=,32;#_unique_start_positions=,28;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0015;AF_ESP_clinvar_20171029_hg19=,0.0175;AF_EXAC_clinvar_20171029_hg19=,0.01484;AF_TGP_clinvar_20171029_hg19=,0.0076;ALLELEID_clinvar_20171029_hg19=,55806;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0173;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001243779.1:p.Val498Ile|_NP_597676.3:p.Val498Ile|_NP_596870.2:p.Val498Ile|_NP_596869.4:p.Val498Ile|_NP_003310.4:p.Val498Ile|_NP_597681.4:p.Val498Ile|_NP_001254479.2:p.Val498Ile;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Val498Ile;BaseQRankSum=,0.55;CAF_dbsnp_common_v150_hg19_refseq=,0.9924|0.007588;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1837342|OMIM:608807|Orphanet:ORPHA140922|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1858763|OMIM:604145|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy|_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179658175C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:87781|UniProtKB_(protein):Q8WZ42#VAR_040081;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.1492G>A|_NM_001267550.2:c.1492G>A|_NM_003319.4:c.1492G>A|_NM_133378.4:c.1492G>A|_NM_133379.4:c.1492G>A|_NM_133432.3:c.1492G>A|_NM_133437.4:c.1492G>A;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.1492G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0149;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,43;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2|NM_133379.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987|rna8988;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179658175;RS_dbsnp_common_v150_hg19_refseq=,72647851;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,42;Read_coverage=,87;Read_direction_test_probability=,0.989845395114079;Read_position_test_probability=,0.9836746045574993;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2|NM_133379.4;Reverse_read_coverage=,44;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0092;SF=39;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.987053|0.0129473;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128000a05040436000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.996;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2|Genbank:NM_133379.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC|titin|_transcript_variant_novex-3;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2|NM_133379.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_001256850:exon9:c.G1492A:p.V498I,TTN:NM_001267550:exon9:c.G1492A:p.V498I,TTN:NM_003319:exon9:c.G1492A:p.V498I,TTN:NM_133378:exon9:c.G1492A:p.V498I,TTN:NM_133379:exon9:c.G1492A:p.V498I,TTN:NM_133432:exon9:c.G1492A:p.V498I,TTN:NM_133437:exon9:c.G1492A:p.V498I;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0175;esp6500siv2_ea=0.0233;esp6500siv2_all=0.0175;esp6500siv2_ea=0.0233;1000g2015aug_all=0.00758786;avsnp147=rs72647851;Kaviar_AF=0.0157048;Kaviar_AC=2428;Kaviar_AN=154602;ExAC_ALL=0.0148;ExAC_AFR=0.0045;ExAC_AMR=0.0122;ExAC_EAS=0;ExAC_FIN=0.0239;ExAC_NFE=0.0200;ExAC_OTH=0.0231;ExAC_SAS=0.0060;CLNALLELEID=55806;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.953;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.003;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.998;MutationTaster_pred=N;MutationAssessor_score=0.41;MutationAssessor_pred=N;FATHMM_score=0.94;FATHMM_pred=T;PROVEAN_score=-0.52;PROVEAN_pred=N;VEST3_score=0.103;CADD_raw=2.756;CADD_phred=21.1;DANN_score=0.949;fathmm-MKL_coding_score=0.797;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.037;MetaSVM_pred=T;MetaLR_score=0.039;MetaLR_pred=T;integrated_fitCons_score=0.516;integrated_confidence_value=0;GERP++_RS=4.7;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.958;phastCons20way_mammalian=0.992;SiPhy_29way_logOdds=12.353;GDI_full_10282015=.;dpsi_max_tissue=-0.4267;dpsi_zscore=-1.014;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0163;gnomAD_exome_AFR=0.0050;gnomAD_exome_AMR=0.0133;gnomAD_exome_ASJ=0.0043;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0.0278;gnomAD_exome_NFE=0.0225;gnomAD_exome_OTH=0.0197;gnomAD_exome_SAS=0.0065;gnomAD_genome_ALL=0.0148;gnomAD_genome_AFR=0.0046;gnomAD_genome_AMR=0.0060;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0266;gnomAD_genome_NFE=0.0207;gnomAD_genome_OTH=0.0102;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:79:0,37 . . 2 179659912 47703;rs16866538 G A 200.00 . #_unique_end_positions=,40;#_unique_start_positions=,34;AC=4;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1974;AF_ESP_clinvar_20171029_hg19=,0.0881;AF_EXAC_clinvar_20171029_hg19=,0.12379;AF_TGP_clinvar_20171029_hg19=,0.2360;ALLELEID_clinvar_20171029_hg19=,56867;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0980;AN=4;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001243779.1:p.Arg328Cys|_NP_001254479.2:p.Arg328Cys|_NP_596869.4:p.Arg328Cys|_NP_596870.2:p.Arg328Cys|_NP_597676.3:p.Arg328Cys|_NP_003310.4:p.Arg328Cys|_NP_597681.4:p.Arg328Cys;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Arg328Cys;BaseQRankSum=,0.29;CAF_dbsnp_common_v150_hg19_refseq=,0.764|0.236;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179659912G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:27336|UniProtKB_(protein):Q8WZ42#VAR_026686;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.982C>T|_NM_001267550.2:c.982C>T|_NM_003319.4:c.982C>T|_NM_133378.4:c.982C>T|_NM_133379.4:c.982C>T|_NM_133432.3:c.982C>T|_NM_133437.4:c.982C>T;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.982C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5883;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0477;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,63;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2|NM_133379.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987|rna8988;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179659912;RS_dbsnp_common_v150_hg19_refseq=,16866538;Read_count=,63;Read_coverage=,137;Read_direction_test_probability=,0.8921163452361434;Read_position_test_probability=,0.7817428496673344;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2|NM_133379.4;Reverse_read_coverage=,74;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2168;SF=1,12,19,20;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.872278|0.127722;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128000a0515053f000101;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.214286;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.039823;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.597561;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.629412;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.143678;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.511628;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.552941;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.211111;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.0416667;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.0928571;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.0625;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.216814;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.102;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2|Genbank:NM_133379.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC|titin|_transcript_variant_novex-3;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2|NM_133379.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_001256850:exon7:c.C982T:p.R328C,TTN:NM_001267550:exon7:c.C982T:p.R328C,TTN:NM_003319:exon7:c.C982T:p.R328C,TTN:NM_133378:exon7:c.C982T:p.R328C,TTN:NM_133379:exon7:c.C982T:p.R328C,TTN:NM_133432:exon7:c.C982T:p.R328C,TTN:NM_133437:exon7:c.C982T:p.R328C;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0881;esp6500siv2_ea=0.0531;esp6500siv2_all=0.0881;esp6500siv2_ea=0.0531;1000g2015aug_all=0.236022;avsnp147=rs16866538;Kaviar_AF=0.118575;Kaviar_AC=18332;Kaviar_AN=154602;ExAC_ALL=0.1238;ExAC_AFR=0.1655;ExAC_AMR=0.1040;ExAC_EAS=0.5968;ExAC_FIN=0.0490;ExAC_NFE=0.0508;ExAC_OTH=0.0837;ExAC_SAS=0.1918;CLNALLELEID=56867;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.007;SIFT_pred=D;Polyphen2_HDIV_score=0.766;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.158;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.007;MutationTaster_pred=P;MutationAssessor_score=1.59;MutationAssessor_pred=L;FATHMM_score=-0.33;FATHMM_pred=T;PROVEAN_score=-4.61;PROVEAN_pred=D;VEST3_score=0.809;CADD_raw=2.207;CADD_phred=17.56;DANN_score=0.678;fathmm-MKL_coding_score=0.969;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.891;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.516;integrated_confidence_value=0;GERP++_RS=5.3;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.158;phastCons20way_mammalian=0.086;SiPhy_29way_logOdds=11.731;GDI_full_10282015=.;dpsi_max_tissue=-0.0603;dpsi_zscore=-0.310;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1222;gnomAD_exome_AFR=0.1704;gnomAD_exome_AMR=0.1018;gnomAD_exome_ASJ=0.0662;gnomAD_exome_EAS=0.5983;gnomAD_exome_FIN=0.0488;gnomAD_exome_NFE=0.0513;gnomAD_exome_OTH=0.0816;gnomAD_exome_SAS=0.1884;gnomAD_genome_ALL=0.1139;gnomAD_genome_AFR=0.1678;gnomAD_genome_AMR=0.0901;gnomAD_genome_ASJ=0.0430;gnomAD_genome_EAS=0.5748;gnomAD_genome_FIN=0.0375;gnomAD_genome_NFE=0.0551;gnomAD_genome_OTH=0.0866;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 . 1:118:0,56 . . . . . . . . . . 1:131:0,62 . . . . . . 1:90:0,50 1:139:0,57 . . . . . . . . . . . . . . . . . . . . . 2 179666982 46687;rs35683768 C A 200.00 . #_unique_end_positions=,49;#_unique_start_positions=,42;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0719;AF_ESP_clinvar_20171029_hg19=,0.0258;AF_EXAC_clinvar_20171029_hg19=,0.01389;AF_TGP_clinvar_20171029_hg19=,0.0290;ALLELEID_clinvar_20171029_hg19=,55852;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0202;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_003310.4:p.Asp60Tyr|_NP_596869.4:p.Asp60Tyr|_NP_597681.4:p.Asp60Tyr|_NP_001254479.2:p.Asp60Tyr|_NP_597676.3:p.Asp60Tyr|_NP_596870.2:p.Asp60Tyr|_NP_001243779.1:p.Asp60Tyr;Amino_acid_change_in_longest_transcript=,NP_001254479.2:p.Asp60Tyr;BaseQRankSum=,-0.12;CAF_dbsnp_common_v150_hg19_refseq=,0.971|0.02895|.;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C1837342|OMIM:608807|Orphanet:ORPHA140922|MedGen:C1838244|OMIM:600334|Orphanet:ORPHA609|MedGen:C1858763|OMIM:604145|MedGen:C1863599|OMIM:603689|Orphanet:ORPHA178464|MedGen:C2673677|OMIM:611705|Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy|_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy|_early-onset|_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.179666982C>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:27374|UniProtKB_(protein):Q8WZ42#VAR_040078;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256850.1:c.178G>T|_NM_001267550.2:c.178G>T|_NM_003319.4:c.178G>T|_NM_133378.4:c.178G>T|_NM_133379.4:c.178G>T|_NM_133432.3:c.178G>T|_NM_133437.4:c.178G>T;Coding_region_change_in_longest_transcript=,NM_001267550.2:c.178G>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0159;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0089;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,77;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTN:7273;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7273;Genotype=,A/C;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12403;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12403;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2|NM_133379.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna8982|rna8983|rna8984|rna8985|rna8986|rna8987|rna8988;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188840;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188840;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,179666982;RS_dbsnp_common_v150_hg19_refseq=,35683768;Read_count=,100;Read_coverage=,177;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.7599364703177756;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2|NM_133379.4;Reverse_read_coverage=,100;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0112;SF=12;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.965863|0.034137|.;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050328000a05150536000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:7273|HGNC:HGNC:12403|MIM:188840;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003319.4|Genbank:NM_133437.4|Genbank:NM_133432.3|Genbank:NM_133378.4|Genbank:NM_001256850.1|Genbank:NM_001267550.2|Genbank:NM_133379.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|TMD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin|_transcript_variant_N2-B|titin|_transcript_variant_novex-2|titin|_transcript_variant_novex-1|titin|_transcript_variant_N2-A|titin|_transcript_variant_N2BA|titin|_transcript_variant_IC|titin|_transcript_variant_novex-3;transcript_id=,NM_003319.4|NM_133437.4|NM_133432.3|NM_133378.4|NM_001256850.1|NM_001267550.2|NM_133379.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_001256850:exon3:c.G178T:p.D60Y,TTN:NM_001267550:exon3:c.G178T:p.D60Y,TTN:NM_003319:exon3:c.G178T:p.D60Y,TTN:NM_133378:exon3:c.G178T:p.D60Y,TTN:NM_133379:exon3:c.G178T:p.D60Y,TTN:NM_133432:exon3:c.G178T:p.D60Y,TTN:NM_133437:exon3:c.G178T:p.D60Y;cytoBand=2q31.2;genomicSuperDups=.;esp6500siv2_all=0.0258;esp6500siv2_ea=0.0059;esp6500siv2_all=0.0258;esp6500siv2_ea=0.0059;1000g2015aug_all=0.0289537;avsnp147=rs35683768;Kaviar_AF=0.0131499;Kaviar_AC=2033;Kaviar_AN=154602;ExAC_ALL=0.0139;ExAC_AFR=0.0683;ExAC_AMR=0.0102;ExAC_EAS=0.0088;ExAC_FIN=0.0157;ExAC_NFE=0.0065;ExAC_OTH=0.0099;ExAC_SAS=0.0142;CLNALLELEID=55852;CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.005;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.965;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=0.999;MutationTaster_pred=D;MutationAssessor_score=2.16;MutationAssessor_pred=M;FATHMM_score=0.87;FATHMM_pred=T;PROVEAN_score=-5.57;PROVEAN_pred=D;VEST3_score=0.606;CADD_raw=3.822;CADD_phred=23.4;DANN_score=0.946;fathmm-MKL_coding_score=0.974;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.910;MetaSVM_pred=T;MetaLR_score=0.023;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.74;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.852;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=19.919;GDI_full_10282015=.;dpsi_max_tissue=0.0447;dpsi_zscore=0.273;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0132;gnomAD_exome_AFR=0.0704;gnomAD_exome_AMR=0.0111;gnomAD_exome_ASJ=0.0055;gnomAD_exome_EAS=0.0088;gnomAD_exome_FIN=0.0175;gnomAD_exome_NFE=0.0065;gnomAD_exome_OTH=0.0102;gnomAD_exome_SAS=0.0137;gnomAD_genome_ALL=0.0244;gnomAD_genome_AFR=0.0684;gnomAD_genome_AMR=0.0084;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0.0093;gnomAD_genome_FIN=0.0137;gnomAD_genome_NFE=0.0050;gnomAD_genome_OTH=0.0132;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 . . . . . . . . . . . . 1:150:0,86 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2 220283259 36002;rs1318299 A G 181.98 . #_unique_end_positions=,70;#_unique_start_positions=,63;AC=81;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6150;ALLELEID_clinvar_20171029_hg19=,44666;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9611;AN=81;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.14;CAF_dbsnp_common_v150_hg19_refseq=,0.1138|0.8862;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0003704|MedGen:C1842161|MedGen:C0878544|Orphanet:ORPHA167848|SNOMED_CT:85898001|MedGen:C1832370|OMIM:601419|Orphanet:ORPHA98909|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446;CLNDN_clinvar_20171029_hg19=,Scapuloperoneal_weakness|Cardiomyopathy|Myofibrillar_myopathy_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Myofibrillar_Myopathy|_Dominant;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.220283259A>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:27988;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001927.3:c.75A>G;Coding_region_change_in_longest_transcript=,NM_001927.3:c.75A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9990;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9901;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,108;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,DES:1674;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:1674;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:1674;Genotype=,G/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:2770;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:2770;Homo_sapiens_refseq_GRCh37.p13_Genes=,DES;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001927.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6530;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna9734;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:125660;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:125660;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6530;QUAL=,156.53559774527022;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,220283259;RS_dbsnp_common_v150_hg19_refseq=,1318299;Read_count=,146;Read_coverage=,146;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001927.3;Reverse_read_coverage=,38;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9765;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.154544|0.845456;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05016800030515013e100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.639;db_xref=,GeneID:1674|HGNC:HGNC:2770|MIM:125660;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001927.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,desmin;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,DES;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,DES;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CSM1|CSM2|LGMD2R;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,desmin;transcript_id=,NM_001927.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DES;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DES:NM_001927:exon1:c.A75G:p.P25P;cytoBand=2q35;genomicSuperDups=.;esp6500siv2_all=0.8972;esp6500siv2_ea=0.9877;esp6500siv2_all=0.8972;esp6500siv2_ea=0.9877;1000g2015aug_all=0.886182;avsnp147=rs1318299;Kaviar_AF=0.877634;Kaviar_AC=135684;Kaviar_AN=154602;ExAC_ALL=0.9652;ExAC_AFR=0.6654;ExAC_AMR=0.9818;ExAC_EAS=0.9996;ExAC_FIN=0.9978;ExAC_NFE=0.9889;ExAC_OTH=0.9711;ExAC_SAS=0.9748;CLNALLELEID=44666;CLNDN=Cardiomyopathy|Scapuloperoneal_weakness|Myofibrillar_myopathy_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0003704,MedGen:C1842161|MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.9680;gnomAD_exome_AFR=0.6441;gnomAD_exome_AMR=0.9791;gnomAD_exome_ASJ=0.9883;gnomAD_exome_EAS=0.9997;gnomAD_exome_FIN=0.9975;gnomAD_exome_NFE=0.9886;gnomAD_exome_OTH=0.9778;gnomAD_exome_SAS=0.9736;gnomAD_genome_ALL=0.8972;gnomAD_genome_AFR=0.6583;gnomAD_genome_AMR=0.9844;gnomAD_genome_ASJ=0.9834;gnomAD_genome_EAS=1;gnomAD_genome_FIN=0.9977;gnomAD_genome_NFE=0.9896;gnomAD_genome_OTH=0.9756;Whole_Blood=Whole_Blood::0.0582656::-0.35563;Liver=.;ALLELE_END;COSO_score=-10 GT:DP:CLCAD2 1/1:127:0,127 1/1:121:0,121 1/1:97:0,97 1/1:163:0,163 1/1:26:0,26 1/1:71:0,71 1/1:56:0,56 1/1:130:0,130 1/1:145:0,144 1/1:123:0,123 1:225:0,88 1/1:142:0,142 1/1:187:0,187 1/1:83:0,83 1/1:154:0,153 1/1:171:0,171 1/1:181:0,181 1/1:94:0,94 1/1:109:0,109 1/1:117:0,117 1/1:105:0,105 1:129:0,35 1/1:99:0,99 1/1:184:0,184 1/1:139:0,139 1/1:83:0,83 1/1:91:0,91 1/1:129:0,129 1/1:85:0,85 1/1:229:0,229 1/1:130:0,130 1/1:110:0,110 1/1:170:0,170 1/1:20:0,20 1/1:152:0,152 1/1:191:0,191 1/1:72:0,72 1:87:0,32 1/1:125:0,125 1/1:127:0,127 1/1:198:0,198 1/1:92:0,92 2 220283277 36003;rs2017800 T C 179.23 . #_unique_end_positions=,71;#_unique_start_positions=,65;AC=81;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5431;ALLELEID_clinvar_20171029_hg19=,44667;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9524;AN=81;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,1.52;CAF_dbsnp_common_v150_hg19_refseq=,0.134|0.866|.;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0003704|MedGen:C1842161|MedGen:C0878544|Orphanet:ORPHA167848|SNOMED_CT:85898001|MedGen:C1832370|OMIM:601419|Orphanet:ORPHA98909|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446;CLNDN_clinvar_20171029_hg19=,Scapuloperoneal_weakness|Cardiomyopathy|Myofibrillar_myopathy_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Myofibrillar_Myopathy|_Dominant;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.220283277T>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:27998;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001927.3:c.93T>C;Coding_region_change_in_longest_transcript=,NM_001927.3:c.93T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9990;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9901;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,114;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,DES:1674;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:1674;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:1674;Genotype=,C/C;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:2770;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:2770;Homo_sapiens_refseq_GRCh37.p13_Genes=,DES;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001927.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6530;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna9734;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:125660;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:125660;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6530;QUAL=,159.54589770191004;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,220283277;RS_dbsnp_common_v150_hg19_refseq=,2017800;Read_count=,153;Read_coverage=,154;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001927.3;Reverse_read_coverage=,40;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9765;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.179751|0.820249|.;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050168000305150536100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:1674|HGNC:HGNC:2770|MIM:125660;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001927.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,desmin;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,DES;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,DES;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CSM1|CSM2|LGMD2R;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,desmin;transcript_id=,NM_001927.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DES;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DES:NM_001927:exon1:c.T93C:p.S31S;cytoBand=2q35;genomicSuperDups=.;esp6500siv2_all=0.8794;esp6500siv2_ea=0.9880;esp6500siv2_all=0.8794;esp6500siv2_ea=0.9880;1000g2015aug_all=0.866014;avsnp147=rs2017800;Kaviar_AF=0.0001358;Kaviar_AC=21;Kaviar_AN=154602;ExAC_ALL=0.9611;ExAC_AFR=0.6090;ExAC_AMR=0.9793;ExAC_EAS=0.9998;ExAC_FIN=0.9977;ExAC_NFE=0.9886;ExAC_OTH=0.9706;ExAC_SAS=0.9749;CLNALLELEID=44667;CLNDN=Cardiomyopathy|Scapuloperoneal_weakness|Myofibrillar_myopathy_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0003704,MedGen:C1842161|MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.9641;gnomAD_exome_AFR=0.5932;gnomAD_exome_AMR=0.9758;gnomAD_exome_ASJ=0.9882;gnomAD_exome_EAS=0.9998;gnomAD_exome_FIN=0.9975;gnomAD_exome_NFE=0.9882;gnomAD_exome_OTH=0.9759;gnomAD_exome_SAS=0.9737;gnomAD_genome_ALL=0.8806;gnomAD_genome_AFR=0.6009;gnomAD_genome_AMR=0.9808;gnomAD_genome_ASJ=0.9834;gnomAD_genome_EAS=1;gnomAD_genome_FIN=0.9980;gnomAD_genome_NFE=0.9892;gnomAD_genome_OTH=0.9705;Whole_Blood=Whole_Blood::0.0609756::-0.317287;Liver=.;ALLELE_END;COSO_score=-10 GT:DP:CLCAD2 1/1:133:0,132 1/1:143:0,143 1/1:110:0,110 1/1:174:0,174 1/1:33:0,33 1/1:76:0,76 1/1:63:0,63 1/1:147:0,147 1/1:159:0,159 1/1:136:0,136 1:236:0,98 1/1:170:0,170 1/1:207:0,207 1/1:98:0,98 1/1:179:0,179 1/1:177:0,177 1/1:192:0,192 1/1:107:0,107 1/1:133:0,133 1/1:128:0,128 1/1:106:0,106 1:137:0,41 1/1:120:0,120 1/1:197:0,197 1/1:158:0,158 1/1:98:0,98 1/1:104:0,104 1/1:163:0,163 1/1:106:0,106 1/1:239:0,239 1/1:140:0,140 1/1:115:0,115 1/1:188:0,188 1/1:27:0,27 1/1:164:0,164 1/1:209:0,209 1/1:86:0,86 1:91:0,36 1/1:141:0,141 1/1:145:0,145 1/1:219:0,219 1/1:103:0,103 2 220283470 . G A 200.00 . #_unique_end_positions=,65;#_unique_start_positions=,62;AC=1;AN=1;Amino_acid_change=,NP_001918.3:p.Ala96Thr;Amino_acid_change_in_longest_transcript=,NP_001918.3:p.Ala96Thr;BaseQRankSum=,-0.55;Coding_region_change=,NM_001927.3:c.286G>A;Coding_region_change_in_longest_transcript=,NM_001927.3:c.286G>A;Forward_read_coverage=,213;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:1674;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:1674;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:2770;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:2770;Homo_sapiens_refseq_GRCh37.p13_Genes=,DES;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001927.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6530;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna9734;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:125660;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:125660;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6530;QUAL=,200.0;Read_count=,150;Read_coverage=,315;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9997779014793129;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001927.3;Reverse_read_coverage=,102;SF=28;conservation_score=,1.0;db_xref=,GeneID:1674|HGNC:HGNC:2770|MIM:125660;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001927.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,desmin;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,DES;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,DES;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CSM1|CSM2|LGMD2R;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,desmin;transcript_id=,NM_001927.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DES;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DES:NM_001927:exon1:c.G286A:p.A96T;cytoBand=2q35;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.001;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=1.0;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=2.7;MutationAssessor_pred=M;FATHMM_score=-2.32;FATHMM_pred=D;PROVEAN_score=-3.15;PROVEAN_pred=D;VEST3_score=0.746;CADD_raw=7.014;CADD_phred=33;DANN_score=0.999;fathmm-MKL_coding_score=0.959;fathmm-MKL_coding_pred=D;MetaSVM_score=0.773;MetaSVM_pred=D;MetaLR_score=0.806;MetaLR_pred=D;integrated_fitCons_score=0.598;integrated_confidence_value=0;GERP++_RS=4.55;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.990;phastCons20way_mammalian=0.952;SiPhy_29way_logOdds=17.290;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=10 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:292:0,139 . . . . . . . . . . . . . 2 220283556 44258;rs34365369 G A 200.00 . #_unique_end_positions=,46;#_unique_start_positions=,40;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0628;AF_ESP_clinvar_20171029_hg19=,0.0178;AF_EXAC_clinvar_20171029_hg19=,0.01205;AF_TGP_clinvar_20171029_hg19=,0.0172;ALLELEID_clinvar_20171029_hg19=,53425;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0043;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.63;CAF_dbsnp_common_v150_hg19_refseq=,0.9828|0.01717;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0003704|MedGen:C1842161|MedGen:C1832370|OMIM:601419|Orphanet:ORPHA98909|MedGen:C3809137|OMIM:615325|Orphanet:ORPHA363543|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446;CLNDN_clinvar_20171029_hg19=,Scapuloperoneal_weakness|Myofibrillar_myopathy_1|Muscular_dystrophy|_limb-girdle|_type_2r|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Myofibrillar_Myopathy|_Dominant;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.220283556G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:95825;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001927.3:c.372G>A;Coding_region_change_in_longest_transcript=,NM_001927.3:c.372G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,77;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,DES:1674;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:1674;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:1674;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:2770;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:2770;Homo_sapiens_refseq_GRCh37.p13_Genes=,DES;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001927.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6530;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna9734;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:125660;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:125660;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6530;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,220283556;RS_dbsnp_common_v150_hg19_refseq=,34365369;Read_count=,70;Read_coverage=,142;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9986087084320759;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001927.3;Reverse_read_coverage=,65;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=37;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.971734|0.0282662;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05012800030515013e000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:1674|HGNC:HGNC:2770|MIM:125660;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001927.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,desmin;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,DES;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,DES;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CSM1|CSM2|LGMD2R;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,desmin;transcript_id=,NM_001927.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DES;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DES:NM_001927:exon1:c.G372A:p.E124E;cytoBand=2q35;genomicSuperDups=.;esp6500siv2_all=0.0178;esp6500siv2_ea=0.0007;esp6500siv2_all=0.0178;esp6500siv2_ea=0.0007;1000g2015aug_all=0.0171725;avsnp147=rs34365369;Kaviar_AF=0.0043337;Kaviar_AC=670;Kaviar_AN=154602;ExAC_ALL=0.0121;ExAC_AFR=0.0817;ExAC_AMR=0.0156;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0020;ExAC_OTH=0.0122;ExAC_SAS=0.0001;CLNALLELEID=53425;CLNDN=Scapuloperoneal_weakness|Myofibrillar_myopathy_1|Muscular_dystrophy,_limb-girdle,_type_2r|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0003704,MedGen:C1842161|MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909|MedGen:C3809137,OMIM:615325,Orphanet:ORPHA363543|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0041;gnomAD_exome_AFR=0.0557;gnomAD_exome_AMR=0.0034;gnomAD_exome_ASJ=0.0016;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0005;gnomAD_exome_OTH=0.0042;gnomAD_exome_SAS=0.0001;gnomAD_genome_ALL=0.0186;gnomAD_genome_AFR=0.0649;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0005;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-10 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:135:0,65 . . . . 2 220283592 44262;rs111828114 C T 200.00 . #_unique_end_positions=,85;#_unique_start_positions=,79;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0015;AF_ESP_clinvar_20171029_hg19=,0.0255;AF_EXAC_clinvar_20171029_hg19=,0.04124;AF_TGP_clinvar_20171029_hg19=,0.0124;ALLELEID_clinvar_20171029_hg19=,53429;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0159;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.56;CAF_dbsnp_common_v150_hg19_refseq=,0.9876|0.01238;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0003704|MedGen:C1842161|MedGen:C1832370|OMIM:601419|Orphanet:ORPHA98909|MedGen:C3809137|OMIM:615325|Orphanet:ORPHA363543|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446;CLNDN_clinvar_20171029_hg19=,Scapuloperoneal_weakness|Myofibrillar_myopathy_1|Muscular_dystrophy|_limb-girdle|_type_2r|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Myofibrillar_Myopathy|_Dominant;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.220283592C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:54086;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001927.3:c.408C>T;Coding_region_change_in_longest_transcript=,NM_001927.3:c.408C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0457;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,201;GENEINFO_dbsnp_common_v150_hg19_refseq=,DES:1674;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:1674;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:1674;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:2770;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:2770;Homo_sapiens_refseq_GRCh37.p13_Genes=,DES;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001927.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6530;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna9734;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:125660;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:125660;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6530;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,220283592;RS_dbsnp_common_v150_hg19_refseq=,111828114;Read_count=,174;Read_coverage=,329;Read_direction_test_probability=,0.9543224185434775;Read_position_test_probability=,0.9708524569636534;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001927.3;Reverse_read_coverage=,128;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0031;SF=35;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.980251|0.0197486;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050168000305140436100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:1674|HGNC:HGNC:2770|MIM:125660;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001927.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,desmin;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,DES;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,DES;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CSM1|CSM2|LGMD2R;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,desmin;transcript_id=,NM_001927.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DES;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DES:NM_001927:exon1:c.C408T:p.L136L;cytoBand=2q35;genomicSuperDups=.;esp6500siv2_all=0.0255;esp6500siv2_ea=0.0352;esp6500siv2_all=0.0255;esp6500siv2_ea=0.0352;1000g2015aug_all=0.0123802;avsnp147=rs111828114;Kaviar_AF=0.0179817;Kaviar_AC=2780;Kaviar_AN=154602;ExAC_ALL=0.0412;ExAC_AFR=0.0083;ExAC_AMR=0.0399;ExAC_EAS=0;ExAC_FIN=0.1170;ExAC_NFE=0.0753;ExAC_OTH=0.0487;ExAC_SAS=0.0064;CLNALLELEID=53429;CLNDN=Scapuloperoneal_weakness|Myofibrillar_myopathy_1|Muscular_dystrophy,_limb-girdle,_type_2r|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0003704,MedGen:C1842161|MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909|MedGen:C3809137,OMIM:615325,Orphanet:ORPHA363543|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0265;gnomAD_exome_AFR=0.0055;gnomAD_exome_AMR=0.0194;gnomAD_exome_ASJ=0.0322;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0441;gnomAD_exome_NFE=0.0384;gnomAD_exome_OTH=0.0380;gnomAD_exome_SAS=0.0049;gnomAD_genome_ALL=0.0304;gnomAD_genome_AFR=0.0068;gnomAD_genome_AMR=0.0239;gnomAD_genome_ASJ=0.0298;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0461;gnomAD_genome_NFE=0.0435;gnomAD_genome_OTH=0.0398;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-10 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:309:0,161 . . . . . . 2 220285002 36001;rs75882680 T C 200.00 . #_unique_end_positions=,64;#_unique_start_positions=,47;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1029;AF_ESP_clinvar_20171029_hg19=,0.0265;AF_EXAC_clinvar_20171029_hg19=,0.00857;AF_TGP_clinvar_20171029_hg19=,0.0294;ALLELEID_clinvar_20171029_hg19=,44665;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0101;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.11;CAF_dbsnp_common_v150_hg19_refseq=,0.9706|0.02935;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0003704|MedGen:C1842161|MedGen:C0878544|Orphanet:ORPHA167848|SNOMED_CT:85898001|MedGen:C1832370|OMIM:601419|Orphanet:ORPHA98909|MedGen:C3809137|OMIM:615325|Orphanet:ORPHA363543|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446;CLNDN_clinvar_20171029_hg19=,Scapuloperoneal_weakness|Cardiomyopathy|Myofibrillar_myopathy_1|Muscular_dystrophy|_limb-girdle|_type_2r|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Myofibrillar_Myopathy|_Dominant;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.220285002T>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:206732;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001927.3:c.669T>C;Coding_region_change_in_longest_transcript=,NM_001927.3:c.669T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0040;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,98;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,DES:1674;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:1674;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:1674;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:2770;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:2770;Homo_sapiens_refseq_GRCh37.p13_Genes=,DES;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001927.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6530;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna9734;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:125660;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:125660;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6530;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,220285002;RS_dbsnp_common_v150_hg19_refseq=,75882680;Read_count=,103;Read_coverage=,198;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.99904956805106;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001927.3;Reverse_read_coverage=,100;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=21;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.961911|0.038089;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050068000305150436100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.99;db_xref=,GeneID:1674|HGNC:HGNC:2770|MIM:125660;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001927.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,desmin;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,DES;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,DES;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CSM1|CSM2|LGMD2R;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,desmin;transcript_id=,NM_001927.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DES;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DES:NM_001927:exon3:c.T669C:p.I223I;cytoBand=2q35;genomicSuperDups=.;esp6500siv2_all=0.0265;esp6500siv2_ea=0.0008;esp6500siv2_all=0.0265;esp6500siv2_ea=0.0008;1000g2015aug_all=0.029353;avsnp147=rs75882680;Kaviar_AF=0.0083181;Kaviar_AC=1286;Kaviar_AN=154602;ExAC_ALL=0.0086;ExAC_AFR=0.0880;ExAC_AMR=0.0054;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0008;ExAC_OTH=0.0088;ExAC_SAS=0.0001;CLNALLELEID=44665;CLNDN=Cardiomyopathy|Scapuloperoneal_weakness|Myofibrillar_myopathy_1|Muscular_dystrophy,_limb-girdle,_type_2r|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0003704,MedGen:C1842161|MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909|MedGen:C3809137,OMIM:615325,Orphanet:ORPHA363543|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1823;dpsi_zscore=0.688;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0072;gnomAD_exome_AFR=0.0907;gnomAD_exome_AMR=0.0068;gnomAD_exome_ASJ=0.0016;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0010;gnomAD_exome_OTH=0.0055;gnomAD_exome_SAS=0.0002;gnomAD_genome_ALL=0.0274;gnomAD_genome_AFR=0.0937;gnomAD_genome_AMR=0.0060;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0012;gnomAD_genome_OTH=0.0061;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-10 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . 1:178:0,92 . . . . . . . . . . . . . . . . . . . . 2 220285002 36001;rs75882680 T C 200.00 . #_unique_end_positions=,64;#_unique_start_positions=,47;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1029;AF_ESP_clinvar_20171029_hg19=,0.0265;AF_EXAC_clinvar_20171029_hg19=,0.00857;AF_TGP_clinvar_20171029_hg19=,0.0294;ALLELEID_clinvar_20171029_hg19=,44665;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0101;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.11;CAF_dbsnp_common_v150_hg19_refseq=,0.9706|0.02935;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0003704|MedGen:C1842161|MedGen:C0878544|Orphanet:ORPHA167848|SNOMED_CT:85898001|MedGen:C1832370|OMIM:601419|Orphanet:ORPHA98909|MedGen:C3809137|OMIM:615325|Orphanet:ORPHA363543|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446;CLNDN_clinvar_20171029_hg19=,Scapuloperoneal_weakness|Cardiomyopathy|Myofibrillar_myopathy_1|Muscular_dystrophy|_limb-girdle|_type_2r|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Myofibrillar_Myopathy|_Dominant;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.220285002T>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:206732;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001927.3:c.669T>C;Coding_region_change_in_longest_transcript=,NM_001927.3:c.669T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0040;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,98;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,DES:1674;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:1674;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:1674;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:2770;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:2770;Homo_sapiens_refseq_GRCh37.p13_Genes=,DES;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001927.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6530;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna9734;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:125660;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:125660;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6530;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,220285002;RS_dbsnp_common_v150_hg19_refseq=,75882680;Read_count=,103;Read_coverage=,198;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.99904956805106;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001927.3;Reverse_read_coverage=,100;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=21;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.961911|0.038089;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050068000305150436100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.99;db_xref=,GeneID:1674|HGNC:HGNC:2770|MIM:125660;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001927.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,desmin;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,DES;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,DES;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CSM1|CSM2|LGMD2R;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,desmin;transcript_id=,NM_001927.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DES;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DES:NM_001927:exon3:c.T669C:p.I223I;cytoBand=2q35;genomicSuperDups=.;esp6500siv2_all=0.0265;esp6500siv2_ea=0.0008;esp6500siv2_all=0.0265;esp6500siv2_ea=0.0008;1000g2015aug_all=0.029353;avsnp147=rs75882680;Kaviar_AF=0.0083181;Kaviar_AC=1286;Kaviar_AN=154602;ExAC_ALL=0.0086;ExAC_AFR=0.0880;ExAC_AMR=0.0054;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0008;ExAC_OTH=0.0088;ExAC_SAS=0.0001;CLNALLELEID=44665;CLNDN=Cardiomyopathy|Scapuloperoneal_weakness|Myofibrillar_myopathy_1|Muscular_dystrophy,_limb-girdle,_type_2r|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0003704,MedGen:C1842161|MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909|MedGen:C3809137,OMIM:615325,Orphanet:ORPHA363543|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1823;dpsi_zscore=0.688;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0072;gnomAD_exome_AFR=0.0907;gnomAD_exome_AMR=0.0068;gnomAD_exome_ASJ=0.0016;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0010;gnomAD_exome_OTH=0.0055;gnomAD_exome_SAS=0.0002;gnomAD_genome_ALL=0.0274;gnomAD_genome_AFR=0.0937;gnomAD_genome_AMR=0.0060;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0012;gnomAD_genome_OTH=0.0061;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-10 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . 1:178:0,92 . . . . . . . . . . . . . . . . . . . . 2 220285309 44272;rs1058261 C T 198.16 . #_unique_end_positions=,38;#_unique_start_positions=,31;AC=26;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4750;AF_ESP_clinvar_20171029_hg19=,0.3845;AF_EXAC_clinvar_20171029_hg19=,0.33626;AF_TGP_clinvar_20171029_hg19=,0.3375;ALLELEID_clinvar_20171029_hg19=,53439;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3429;AN=26;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.19;CAF_dbsnp_common_v150_hg19_refseq=,0.6625|0.3375;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0003704|MedGen:C1842161|MedGen:C1832370|OMIM:601419|Orphanet:ORPHA98909|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446;CLNDN_clinvar_20171029_hg19=,Scapuloperoneal_weakness|Myofibrillar_myopathy_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Myofibrillar_Myopathy|_Dominant;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.220285309C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:28015;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001927.3:c.828C>T;Coding_region_change_in_longest_transcript=,NM_001927.3:c.828C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1835;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3648;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,57;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,DES:1674;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:1674;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:1674;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:2770;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:2770;Homo_sapiens_refseq_GRCh37.p13_Genes=,DES;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001927.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6530;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna9734;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:125660;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:125660;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6530;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,220285309;RS_dbsnp_common_v150_hg19_refseq=,1058261;Read_count=,48;Read_coverage=,103;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9698250326246826;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001927.3;Reverse_read_coverage=,46;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2781;SF=0,2,4,7,13,14,15,18,21,22,23,24,26,27,29,30,32,34,36,38,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.593454|0.406546;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05012800030517053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.459184;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.342342;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.170732;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.164706;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.289773;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.142857;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.203488;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.427778;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.3;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.412587;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.380682;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.5;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:1674|HGNC:HGNC:2770|MIM:125660;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001927.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,desmin;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,DES;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,DES;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CSM1|CSM2|LGMD2R;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,desmin;transcript_id=,NM_001927.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DES;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DES:NM_001927:exon4:c.C828T:p.D276D;cytoBand=2q35;genomicSuperDups=.;esp6500siv2_all=0.3845;esp6500siv2_ea=0.3555;esp6500siv2_all=0.3845;esp6500siv2_ea=0.3555;1000g2015aug_all=0.33746;avsnp147=rs1058261;Kaviar_AF=0.336574;Kaviar_AC=52035;Kaviar_AN=154602;ExAC_ALL=0.3363;ExAC_AFR=0.4452;ExAC_AMR=0.3020;ExAC_EAS=0.1882;ExAC_FIN=0.2695;ExAC_NFE=0.3603;ExAC_OTH=0.3448;ExAC_SAS=0.2988;CLNALLELEID=53439;CLNDN=Scapuloperoneal_weakness|Myofibrillar_myopathy_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0003704,MedGen:C1842161|MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.4236;dpsi_zscore=1.744;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3314;gnomAD_exome_AFR=0.4410;gnomAD_exome_AMR=0.3103;gnomAD_exome_ASJ=0.4203;gnomAD_exome_EAS=0.1903;gnomAD_exome_FIN=0.2789;gnomAD_exome_NFE=0.3562;gnomAD_exome_OTH=0.3489;gnomAD_exome_SAS=0.2968;gnomAD_genome_ALL=0.3509;gnomAD_genome_AFR=0.4309;gnomAD_genome_AMR=0.3341;gnomAD_genome_ASJ=0.4172;gnomAD_genome_EAS=0.1976;gnomAD_genome_FIN=0.2734;gnomAD_genome_NFE=0.3400;gnomAD_genome_OTH=0.3313;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-10 GT:DP:CLCAD2 1:94:0,45 . 1/1:160:0,160 . 1:112:0,52 . . 1:150:0,62 . . . . . 1:177:0,82 1:271:0,140 1:164:0,76 . . 1:119:0,62 . . 1:197:0,92 1:226:0,93 1:180:0,82 1/1:164:0,164 . 1:170:0,77 1:222:0,100 . 1:189:0,88 1:188:0,97 . 1/1:136:0,136 . 1:188:0,86 . 1/1:127:0,127 . 1:132:0,59 . 1:167:0,79 1:159:0,70 2 220285666 44242;rs12920 G C 196.19 . #_unique_end_positions=,30;#_unique_start_positions=,28;AC=26;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4750;AF_ESP_clinvar_20171029_hg19=,0.3866;AF_EXAC_clinvar_20171029_hg19=,0.34141;AF_TGP_clinvar_20171029_hg19=,0.3377;ALLELEID_clinvar_20171029_hg19=,53409;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3444;AN=26;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.6623|0.3377;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0003704|MedGen:C1842161|MedGen:C1832370|OMIM:601419|Orphanet:ORPHA98909|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446;CLNDN_clinvar_20171029_hg19=,Scapuloperoneal_weakness|Myofibrillar_myopathy_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Myofibrillar_Myopathy|_Dominant;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.220285666G>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:28027;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001927.3:c.1014G>C;Coding_region_change_in_longest_transcript=,NM_001927.3:c.1014G>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1835;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3648;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,52;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,DES:1674;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:1674;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:1674;Genotype=,C/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:2770;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:2770;Homo_sapiens_refseq_GRCh37.p13_Genes=,DES;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001927.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6530;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna9734;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:125660;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:125660;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6530;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,220285666;RS_dbsnp_common_v150_hg19_refseq=,12920;Read_count=,43;Read_coverage=,119;Read_direction_test_probability=,0.8624318472304153;Read_position_test_probability=,0.9764874397511748;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001927.3;Reverse_read_coverage=,67;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2781;SF=0,2,4,7,13,14,15,18,21,22,23,24,26,27,29,30,32,34,36,38,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.59026|0.40974;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05032800030517053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.459184;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.345133;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.170732;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.164706;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.289773;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.151163;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.203488;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.427778;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.3;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.412587;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.380682;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.5;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:1674|HGNC:HGNC:2770|MIM:125660;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001927.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,desmin;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,DES;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,DES;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CSM1|CSM2|LGMD2R;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,desmin;transcript_id=,NM_001927.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DES;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DES:NM_001927:exon5:c.G1014C:p.L338L;cytoBand=2q35;genomicSuperDups=.;esp6500siv2_all=0.3866;esp6500siv2_ea=0.3551;esp6500siv2_all=0.3866;esp6500siv2_ea=0.3551;1000g2015aug_all=0.33766;avsnp147=rs12920;Kaviar_AF=0.334828;Kaviar_AC=51765;Kaviar_AN=154602;ExAC_ALL=0.3414;ExAC_AFR=0.4560;ExAC_AMR=0.3077;ExAC_EAS=0.1923;ExAC_FIN=0.2791;ExAC_NFE=0.3631;ExAC_OTH=0.3506;ExAC_SAS=0.3053;CLNALLELEID=53409;CLNDN=Scapuloperoneal_weakness|Myofibrillar_myopathy_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0003704,MedGen:C1842161|MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.6110;dpsi_zscore=-1.196;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3312;gnomAD_exome_AFR=0.4475;gnomAD_exome_AMR=0.3100;gnomAD_exome_ASJ=0.4201;gnomAD_exome_EAS=0.1893;gnomAD_exome_FIN=0.2777;gnomAD_exome_NFE=0.3551;gnomAD_exome_OTH=0.3483;gnomAD_exome_SAS=0.2965;gnomAD_genome_ALL=0.3524;gnomAD_genome_AFR=0.4369;gnomAD_genome_AMR=0.3321;gnomAD_genome_ASJ=0.4172;gnomAD_genome_EAS=0.1949;gnomAD_genome_FIN=0.2731;gnomAD_genome_NFE=0.3399;gnomAD_genome_OTH=0.3320;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-10 GT:DP:CLCAD2 1:106:0,39 . 1/1:207:0,207 . 1:132:0,78 . . 1:132:0,59 . . . . . 1:186:0,88 1:246:0,126 1:226:0,126 . . 1:158:0,80 . . 1:196:0,78 1:217:0,103 1:204:0,94 1/1:212:0,212 . 1:165:0,85 1:226:0,107 . 1:209:0,94 1:187:0,98 . 1/1:197:0,197 . 1:152:0,59 . 1/1:142:0,142 . 1:145:0,83 . 1:217:0,97 1:147:0,77 2 220286142 44245;rs1058284 G A 198.16 . #_unique_end_positions=,29;#_unique_start_positions=,30;AC=26;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4607;AF_ESP_clinvar_20171029_hg19=,0.3844;AF_EXAC_clinvar_20171029_hg19=,0.33618;AF_TGP_clinvar_20171029_hg19=,0.3337;ALLELEID_clinvar_20171029_hg19=,53412;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3429;AN=26;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.09;CAF_dbsnp_common_v150_hg19_refseq=,0.6663|0.3337;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0003704|MedGen:C1842161|MedGen:C1832370|OMIM:601419|Orphanet:ORPHA98909|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446;CLNDN_clinvar_20171029_hg19=,Scapuloperoneal_weakness|Myofibrillar_myopathy_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Myofibrillar_Myopathy|_Dominant;CLNHGVS_clinvar_20171029_hg19=,NC_000002.11:g.220286142G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:28037;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001927.3:c.1104G>A;Coding_region_change_in_longest_transcript=,NM_001927.3:c.1104G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1835;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3648;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,53;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,DES:1674;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:1674;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:1674;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:2770;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:2770;Homo_sapiens_refseq_GRCh37.p13_Genes=,DES;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001927.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6530;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna9734;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:125660;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:125660;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6530;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,220286142;RS_dbsnp_common_v150_hg19_refseq=,1058284;Read_count=,50;Read_coverage=,86;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9697783017582859;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001927.3;Reverse_read_coverage=,33;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2781;SF=0,2,4,7,13,14,15,18,21,22,23,24,26,27,29,30,32,34,36,38,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.593804|0.406196;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05032800030517053f000101;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.44898;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.4;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.170732;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.164706;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.289773;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.155556;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.244444;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.394444;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.3;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.398601;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.380682;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.491667;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.0;db_xref=,GeneID:1674|HGNC:HGNC:2770|MIM:125660;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001927.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,desmin;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,DES;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,DES;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CSM1|CSM2|LGMD2R;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,desmin;transcript_id=,NM_001927.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DES;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DES:NM_001927:exon6:c.G1104A:p.A368A;cytoBand=2q35;genomicSuperDups=.;esp6500siv2_all=0.3844;esp6500siv2_ea=0.3552;esp6500siv2_all=0.3844;esp6500siv2_ea=0.3552;1000g2015aug_all=0.333666;avsnp147=rs1058284;Kaviar_AF=0.337221;Kaviar_AC=52135;Kaviar_AN=154602;ExAC_ALL=0.3362;ExAC_AFR=0.4421;ExAC_AMR=0.3024;ExAC_EAS=0.1887;ExAC_FIN=0.2696;ExAC_NFE=0.3603;ExAC_OTH=0.3436;ExAC_SAS=0.2989;CLNALLELEID=53412;CLNDN=Scapuloperoneal_weakness|Myofibrillar_myopathy_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0003704,MedGen:C1842161|MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1133;dpsi_zscore=-0.488;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3317;gnomAD_exome_AFR=0.4397;gnomAD_exome_AMR=0.3102;gnomAD_exome_ASJ=0.4201;gnomAD_exome_EAS=0.1902;gnomAD_exome_FIN=0.2788;gnomAD_exome_NFE=0.3567;gnomAD_exome_OTH=0.3494;gnomAD_exome_SAS=0.2971;gnomAD_genome_ALL=0.3510;gnomAD_genome_AFR=0.4292;gnomAD_genome_AMR=0.3357;gnomAD_genome_ASJ=0.4133;gnomAD_genome_EAS=0.1973;gnomAD_genome_FIN=0.2735;gnomAD_genome_NFE=0.3410;gnomAD_genome_OTH=0.3327;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-10 GT:DP:CLCAD2 1:78:0,46 . 1/1:115:0,115 . 1:86:0,35 . . 1:100:0,42 . . . . . 1:133:0,56 1:152:0,63 1:107:0,60 . . 1:87:0,49 . . 1:143:0,66 1:158:0,72 1:137:0,78 1/1:136:0,136 . 1:108:0,42 1:127:0,52 . 1:124:0,71 1:112:0,60 . 1/1:115:0,115 . 1:144:0,74 . 1/1:93:0,93 . 1:105:0,51 . 1:134:0,69 1:96:0,47 3 8775589 31716;rs1974763 C T 132.04 . #_unique_end_positions=,15;#_unique_start_positions=,15;AC=8;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0053;AF_ESP_clinvar_20171029_hg19=,0.0915;AF_EXAC_clinvar_20171029_hg19=,0.08729;AF_TGP_clinvar_20171029_hg19=,0.0425;ALLELEID_clinvar_20171029_hg19=,40376;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0620;AN=8;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.29;CAF_dbsnp_common_v150_hg19_refseq=,0.9575|0.04253;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MeSH:D008133|MedGen:C0023976|SNOMED_CT:9651007|MedGen:CN043575|Orphanet:ORPHA207078|MedGen:CN119492|SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736|MedGen:CN239426|MedGen:CN517202;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Long_QT_syndrome|Caveolinopathy|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype|Limb-Girdle_Muscular_Dystrophy|_Dominant|not_provided;CLNHGVS_clinvar_20171029_hg19=,NC_000003.11:g.8775589C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:31427|Leiden_Muscular_Dystrophy_pages_(CAV3):CAV3_00024;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001234.4:c.27C>T|_NM_033337.2:c.27C>T;Coding_region_change_in_longest_transcript=,NM_033337.2:c.27C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0060;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1302;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,25;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,SSUH2:51066|CAV3:859;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:859;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:859;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:1529;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:1529;Homo_sapiens_refseq_GRCh37.p13_Genes=,CAV3;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_033337.2|NM_001234.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6886;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna10310|rna10311;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:601253;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:601253;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6886;QUAL=,108.88853244839896;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,8775589;RS_dbsnp_common_v150_hg19_refseq=,1974763;Read_count=,18;Read_coverage=,33;Read_direction_test_probability=,0.996382877364638;Read_position_test_probability=,0.9924685102328996;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_033337.2|NM_001234.4;Reverse_read_coverage=,8;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0266;SF=4,7,20,22,29,31,39,40;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.936431|0.0635689;TPA_dbsnp_common_v150_hg19_refseq=,TPA;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05017808030515053f100100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.0204082;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.154867;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.0121951;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.0397727;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.0166667;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.06;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.048951;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.125;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:859|HGNC:HGNC:1529|MIM:601253;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:03154;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_033337.2|HPRD:03154|Genbank:NM_001234.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,caveolin_3;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CAV3;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,CAV3;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LGMD1C|LQT9|VIP-21|VIP21;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,caveolin_3|_transcript_variant_1|caveolin_3|_transcript_variant_2;transcript_id=,NM_033337.2|NM_001234.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CAV3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CAV3:NM_001234:exon1:c.C27T:p.L9L,CAV3:NM_033337:exon1:c.C27T:p.L9L;cytoBand=3p25.3;genomicSuperDups=.;esp6500siv2_all=0.0915;esp6500siv2_ea=0.1248;esp6500siv2_all=0.0915;esp6500siv2_ea=0.1248;1000g2015aug_all=0.0425319;avsnp147=rs1974763;Kaviar_AF=0.0890609;Kaviar_AC=13769;Kaviar_AN=154602;ExAC_ALL=0.0873;ExAC_AFR=0.0229;ExAC_AMR=0.0442;ExAC_EAS=0.0013;ExAC_FIN=0.1121;ExAC_NFE=0.1275;ExAC_OTH=0.0761;ExAC_SAS=0.0277;CLNALLELEID=40376;CLNDN=Hypertrophic_cardiomyopathy|Long_QT_syndrome|Limb-girdle_muscular_dystrophy,_type_1C|Distal_myopathy,_Tateyama_type|Caveolinopathy|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype|Limb-Girdle_Muscular_Dystrophy,_Dominant|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1832567,OMIM:607801,Orphanet:ORPHA265|MedGen:C3280443,OMIM:614321|MedGen:CN043575,Orphanet:ORPHA207078|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736|MedGen:CN239426|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0861;gnomAD_exome_AFR=0.0212;gnomAD_exome_AMR=0.0531;gnomAD_exome_ASJ=0.0666;gnomAD_exome_EAS=0.0017;gnomAD_exome_FIN=0.1143;gnomAD_exome_NFE=0.1301;gnomAD_exome_OTH=0.0930;gnomAD_exome_SAS=0.0268;gnomAD_genome_ALL=0.0867;gnomAD_genome_AFR=0.0249;gnomAD_genome_AMR=0.0682;gnomAD_genome_ASJ=0.0596;gnomAD_genome_EAS=0.0018;gnomAD_genome_FIN=0.1178;gnomAD_genome_NFE=0.1246;gnomAD_genome_OTH=0.1119;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . 1:30:0,16 . . 1:32:0,21 . . . . . . . . . . . . 1:26:0,17 . 1:66:0,32 . . . . . . 1:64:0,29 . 1:23:0,12 . . . . . . . 1:49:0,26 1:52:0,31 . 3 8775661 31709;rs1008642 C T 118.14 . #_unique_end_positions=,16;#_unique_start_positions=,14;AC=27;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6210;AF_ESP_clinvar_20171029_hg19=,0.3432;AF_EXAC_clinvar_20171029_hg19=,0.30104;AF_TGP_clinvar_20171029_hg19=,0.3710;ALLELEID_clinvar_20171029_hg19=,40369;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3055;AN=27;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.629|.|0.371;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MeSH:D008133|MedGen:C0023976|SNOMED_CT:9651007|MedGen:CN043575|Orphanet:ORPHA207078|MedGen:CN119492|SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736|MedGen:CN239426|MedGen:CN517202;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Long_QT_syndrome|Caveolinopathy|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype|Limb-Girdle_Muscular_Dystrophy|_Dominant|not_provided;CLNHGVS_clinvar_20171029_hg19=,NC_000003.11:g.8775661C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:31388|Leiden_Muscular_Dystrophy_pages_(CAV3):CAV3_00016;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001234.4:c.99C>T|_NM_033337.2:c.99C>T;Coding_region_change_in_longest_transcript=,NM_033337.2:c.99C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3720;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2684;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,20;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,SSUH2:51066|CAV3:859;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:859;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:859;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:1529;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:1529;Homo_sapiens_refseq_GRCh37.p13_Genes=,CAV3;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_033337.2|NM_001234.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6886;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna10310|rna10311;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:601253;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:601253;Non-synonymous=,No;OM_dbsnp_common_v150_hg19_refseq=,OM;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6886;QUAL=,127.59243711842585;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,8775661;RS_dbsnp_common_v150_hg19_refseq=,1008642;Read_count=,19;Read_coverage=,47;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9017636087225419;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_033337.2|NM_001234.4;Reverse_read_coverage=,27;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1840;SF=1,2,3,5,6,7,9,14,15,16,20,21,22,26,27,28,29,30,34,35,39;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.59592|.|0.40408;TPA_dbsnp_common_v150_hg19_refseq=,TPA;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05017808030517053f110100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.540816;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.216667;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.402439;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.417647;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.1875;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.333333;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.388889;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.6;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.33;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.562937;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.352273;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.6;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.979;db_xref=,GeneID:859|HGNC:HGNC:1529|MIM:601253;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:03154;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_033337.2|HPRD:03154|Genbank:NM_001234.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,caveolin_3;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CAV3;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,CAV3;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LGMD1C|LQT9|VIP-21|VIP21;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,caveolin_3|_transcript_variant_1|caveolin_3|_transcript_variant_2;transcript_id=,NM_033337.2|NM_001234.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CAV3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CAV3:NM_001234:exon1:c.C99T:p.N33N,CAV3:NM_033337:exon1:c.C99T:p.N33N;cytoBand=3p25.3;genomicSuperDups=.;esp6500siv2_all=0.3431;esp6500siv2_ea=0.2388;esp6500siv2_all=0.3431;esp6500siv2_ea=0.2388;1000g2015aug_all=0.371006;avsnp147=rs1008642;Kaviar_AF=0.292357;Kaviar_AC=45199;Kaviar_AN=154602;ExAC_ALL=0.3010;ExAC_AFR=0.5617;ExAC_AMR=0.3314;ExAC_EAS=0.3999;ExAC_FIN=0.2995;ExAC_NFE=0.2648;ExAC_OTH=0.3217;ExAC_SAS=0.2104;CLNALLELEID=40369;CLNDN=Hypertrophic_cardiomyopathy|Long_QT_syndrome|Limb-girdle_muscular_dystrophy,_type_1C|Distal_myopathy,_Tateyama_type|Caveolinopathy|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype|Limb-Girdle_Muscular_Dystrophy,_Dominant|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1832567,OMIM:607801,Orphanet:ORPHA265|MedGen:C3280443,OMIM:614321|MedGen:CN043575,Orphanet:ORPHA207078|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736|MedGen:CN239426|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2931;gnomAD_exome_AFR=0.5618;gnomAD_exome_AMR=0.3228;gnomAD_exome_ASJ=0.3015;gnomAD_exome_EAS=0.3977;gnomAD_exome_FIN=0.2869;gnomAD_exome_NFE=0.2547;gnomAD_exome_OTH=0.3024;gnomAD_exome_SAS=0.2090;gnomAD_genome_ALL=0.3597;gnomAD_genome_AFR=0.5489;gnomAD_genome_AMR=0.3365;gnomAD_genome_ASJ=0.3079;gnomAD_genome_EAS=0.41;gnomAD_genome_FIN=0.2971;gnomAD_genome_NFE=0.2666;gnomAD_genome_OTH=0.2832;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . 1:41:0,18 1:32:0,14 1:29:0,15 . 1/1:44:0,44 1:15:0,6 1:29:0,8 . 1:30:0,11 . . . . 1:53:0,21 1:43:0,18 1/1:36:0,36 . . . 1:25:0,8 1:42:0,24 1:50:0,21 . . . 1/1:40:0,40 1/1:23:0,23 1:51:0,21 1:55:0,24 1/1:37:0,37 . . . 1/1:39:0,39 1:36:0,16 . . . 1:50:0,21 . . 3 8787220 31717;rs13087941 T C 191.23 . #_unique_end_positions=,27;#_unique_start_positions=,29;AC=17;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2837;AF_ESP_clinvar_20171029_hg19=,0.2556;AF_EXAC_clinvar_20171029_hg19=,0.18859;AF_TGP_clinvar_20171029_hg19=,0.1530;ALLELEID_clinvar_20171029_hg19=,40377;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1311;AN=17;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.36;CAF_dbsnp_common_v150_hg19_refseq=,0.847|0.153;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MeSH:D008133|MedGen:C0023976|SNOMED_CT:9651007|MedGen:CN043575|Orphanet:ORPHA207078|MedGen:CN119492|SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736|MedGen:CN239426|MedGen:CN517202;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Long_QT_syndrome|Caveolinopathy|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype|Limb-Girdle_Muscular_Dystrophy|_Dominant|not_provided;CLNHGVS_clinvar_20171029_hg19=,NC_000003.11:g.8787220T>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:31395|Leiden_Muscular_Dystrophy_pages_(CAV3):CAV3_00025;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001234.4:c.123T>C|_NM_033337.2:c.123T>C;Coding_region_change_in_longest_transcript=,NM_033337.2:c.123T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0139;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2326;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,62;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,SSUH2:51066|CAV3:859;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:859;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:859;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:1529;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:1529;Homo_sapiens_refseq_GRCh37.p13_Genes=,CAV3;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_033337.2|NM_001234.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6886;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna10310|rna10311;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:601253;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:601253;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6886;QUAL=,200.0;R5_dbsnp_common_v150_hg19_refseq=,R5;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,8787220;RS_dbsnp_common_v150_hg19_refseq=,13087941;Read_count=,40;Read_coverage=,86;Read_direction_test_probability=,0.8021542765724682;Read_position_test_probability=,0.598364768510091;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_033337.2|NM_001234.4;Reverse_read_coverage=,24;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0532;SF=3,4,7,8,15,20,22,23,25,28,29,31,32,33,38,39,40;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.761453|0.238547;TPA_dbsnp_common_v150_hg19_refseq=,TPA;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05017802030515053f100100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.27551;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.274336;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.0121951;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.00588235;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.0965909;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.230337;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.11;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.143357;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.170455;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.247788;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.6;db_xref=,GeneID:859|HGNC:HGNC:1529|MIM:601253;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:03154;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_033337.2|HPRD:03154|Genbank:NM_001234.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,caveolin_3;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CAV3;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,CAV3;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LGMD1C|LQT9|VIP-21|VIP21;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,caveolin_3|_transcript_variant_1|caveolin_3|_transcript_variant_2;transcript_id=,NM_033337.2|NM_001234.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CAV3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CAV3:NM_001234:exon2:c.T123C:p.F41F,CAV3:NM_033337:exon2:c.T123C:p.F41F;cytoBand=3p25.3;genomicSuperDups=.;esp6500siv2_all=0.2556;esp6500siv2_ea=0.2410;esp6500siv2_all=0.2556;esp6500siv2_ea=0.2410;1000g2015aug_all=0.152955;avsnp147=rs13087941;Kaviar_AF=0.188866;Kaviar_AC=29199;Kaviar_AN=154602;ExAC_ALL=0.1886;ExAC_AFR=0.2890;ExAC_AMR=0.0844;ExAC_EAS=0.0059;ExAC_FIN=0.2622;ExAC_NFE=0.2372;ExAC_OTH=0.1726;ExAC_SAS=0.0671;CLNALLELEID=40377;CLNDN=Hypertrophic_cardiomyopathy|Long_QT_syndrome|Limb-girdle_muscular_dystrophy,_type_1C|Distal_myopathy,_Tateyama_type|Caveolinopathy|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype|Limb-Girdle_Muscular_Dystrophy,_Dominant|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1832567,OMIM:607801,Orphanet:ORPHA265|MedGen:C3280443,OMIM:614321|MedGen:CN043575,Orphanet:ORPHA207078|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736|MedGen:CN239426|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.4904;dpsi_zscore=1.123;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1828;gnomAD_exome_AFR=0.2925;gnomAD_exome_AMR=0.1011;gnomAD_exome_ASJ=0.1519;gnomAD_exome_EAS=0.0065;gnomAD_exome_FIN=0.2614;gnomAD_exome_NFE=0.2384;gnomAD_exome_OTH=0.1849;gnomAD_exome_SAS=0.0675;gnomAD_genome_ALL=0.2411;gnomAD_genome_AFR=0.2882;gnomAD_genome_AMR=0.1158;gnomAD_genome_ASJ=0.1358;gnomAD_genome_EAS=0.0142;gnomAD_genome_FIN=0.2574;gnomAD_genome_NFE=0.2446;gnomAD_genome_OTH=0.2264;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . 1:79:0,37 1:42:0,20 . . 1:63:0,34 1:81:0,33 . . . . . . 1:103:0,48 . . . . 1:80:0,42 . 1:137:0,56 1:109:0,62 . 1:72:0,34 . . 1:130:0,65 1:122:0,66 . 1:54:0,32 1:87:0,37 1:71:0,39 . . . . 1:63:0,25 1:90:0,48 1:76:0,45 . 3 8787266 31708 G A 200.00 . #_unique_end_positions=,19;#_unique_start_positions=,18;AC=1;AF_EXAC_clinvar_20171029_hg19=,0.00002;ALLELEID_clinvar_20171029_hg19=,40368;AN=1;Amino_acid_change=,NP_203123.1:p.Val57Met|_NP_001225.1:p.Val57Met;Amino_acid_change_in_longest_transcript=,NP_203123.1:p.Val57Met;BaseQRankSum=,-0.48;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN517202;CLNDN_clinvar_20171029_hg19=,not_provided;CLNHGVS_clinvar_20171029_hg19=,NC_000003.11:g.8787266G>A;CLNREVSTAT_clinvar_20171029_hg19=,no_assertion_provided;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Leiden_Muscular_Dystrophy_pages_(CAV3):CAV3_00015|UniProtKB_(protein):P56539#VAR_010742;Coding_region_change=,NM_001234.4:c.169G>A|_NM_033337.2:c.169G>A;Coding_region_change_in_longest_transcript=,NM_033337.2:c.169G>A;Exact_match=,clinvar_20171029_hg19;Forward_read_coverage=,45;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:859;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:859;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:1529;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:1529;Homo_sapiens_refseq_GRCh37.p13_Genes=,CAV3;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_033337.2|NM_001234.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6886;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna10310|rna10311;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:601253;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:601253;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6886;QUAL=,200.0;Read_count=,29;Read_coverage=,62;Read_direction_test_probability=,0.9953873918834286;Read_position_test_probability=,0.8081996711681538;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_033337.2|NM_001234.4;Reverse_read_coverage=,17;SF=4;conservation_score=,1.0;db_xref=,GeneID:859|HGNC:HGNC:1529|MIM:601253;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:03154;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_033337.2|HPRD:03154|Genbank:NM_001234.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,caveolin_3;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CAV3;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,CAV3;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LGMD1C|LQT9|VIP-21|VIP21;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,caveolin_3|_transcript_variant_1|caveolin_3|_transcript_variant_2;transcript_id=,NM_033337.2|NM_001234.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CAV3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CAV3:NM_001234:exon2:c.G169A:p.V57M,CAV3:NM_033337:exon2:c.G169A:p.V57M;cytoBand=3p25.3;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs116840795;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;ExAC_ALL=1.653e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0.0001;ExAC_FIN=0;ExAC_NFE=0;ExAC_OTH=0;ExAC_SAS=6.107e-05;CLNALLELEID=40368;CLNDN=not_provided;CLNDISDB=MedGen:CN517202;CLNREVSTAT=no_assertion_provided;CLNSIG=not_provided;SIFT_score=0.002;SIFT_pred=D;Polyphen2_HDIV_score=0.998;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.954;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.995;MutationAssessor_pred=M;FATHMM_score=-3.8;FATHMM_pred=D;PROVEAN_score=-2.67;PROVEAN_pred=D;VEST3_score=0.948;CADD_raw=6.327;CADD_phred=29.3;DANN_score=0.999;fathmm-MKL_coding_score=0.970;fathmm-MKL_coding_pred=D;MetaSVM_score=1.072;MetaSVM_pred=D;MetaLR_score=0.928;MetaLR_pred=D;integrated_fitCons_score=0.428;integrated_confidence_value=0;GERP++_RS=4.62;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.998;phastCons7way_vertebrate=0.985;phastCons20way_mammalian=0.996;SiPhy_29way_logOdds=16.183;GDI_full_10282015=.;dpsi_max_tissue=-0.1637;dpsi_zscore=-0.611;hgmdCODING=HGMD::Isolated_hyperCKaemia#15099591;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM040985#"Isolated_hyperCKaemia";gnomAD_exome_ALL=1.219e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=2.978e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=5.798e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0;gnomAD_exome_OTH=0;gnomAD_exome_SAS=3.25e-05;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=10 GT:DP:CLCAD2 . . . . 1:58:0,27 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 3 8787330 8293;rs72546668 C T 200.00 . #_unique_end_positions=,36;#_unique_start_positions=,36;AC=2;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0038;AF_ESP_clinvar_20171029_hg19=,0.0043;AF_EXAC_clinvar_20171029_hg19=,0.00304;AF_TGP_clinvar_20171029_hg19=,0.0020;ALLELEID_clinvar_20171029_hg19=,23332;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AN=2;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001225.1:p.Thr78Met|_NP_203123.1:p.Thr78Met;Amino_acid_change_in_longest_transcript=,NP_203123.1:p.Thr78Met;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.998|.|0.001997;CLNDISDB_clinvar_20171029_hg19=,MeSH:D008133|MedGen:C0023976|SNOMED_CT:9651007|MedGen:C2678485|OMIM:611818|MedGen:C3279093|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNDN_clinvar_20171029_hg19=,Long_QT_syndrome|Long_QT_syndrome_9|Long_QT_syndrome_2/9|_digenic|not_specified|Cardiovascular_phenotype|not_provided;CLNHGVS_clinvar_20171029_hg19=,NC_000003.11:g.8787330C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_conflicting_interpretations;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,ARUP_Laboratories|_Molecular_Genetics_and_Genomics:112744|HGMD:CM065052|Leiden_Muscular_Dystrophy_pages_(CAV3):CAV3_00030|OMIM_Allelic_Variant:601253.0018|UniProtKB_(protein):P56539#VAR_043695;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001234.4:c.233C>T|_NM_033337.2:c.233C>T;Coding_region_change_in_longest_transcript=,NM_033337.2:c.233C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0050;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,76;GENEINFO_dbsnp_common_v150_hg19_refseq=,SSUH2:51066|CAV3:859;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:859;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:859;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:1529;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:1529;Homo_sapiens_refseq_GRCh37.p13_Genes=,CAV3;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_033337.2|NM_001234.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6886;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna10310|rna10311;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:601253;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:601253;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;OM_dbsnp_common_v150_hg19_refseq=,OM;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6886;QUAL=,200.0;R5_dbsnp_common_v150_hg19_refseq=,R5;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,8787330;RS_dbsnp_common_v150_hg19_refseq=,72546668;Read_count=,68;Read_coverage=,138;Read_direction_test_probability=,0.9520651865420837;Read_position_test_probability=,0.9358706413629315;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_033337.2|NM_001234.4;Reverse_read_coverage=,62;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=2,18;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.997836|.|0.00216361;TPA_dbsnp_common_v150_hg19_refseq=,TPA;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050178020a05040536110100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.998;db_xref=,GeneID:859|HGNC:HGNC:1529|MIM:601253;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:03154;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_033337.2|HPRD:03154|Genbank:NM_001234.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,caveolin_3;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CAV3;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,CAV3;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LGMD1C|LQT9|VIP-21|VIP21;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,caveolin_3|_transcript_variant_1|caveolin_3|_transcript_variant_2;transcript_id=,NM_033337.2|NM_001234.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CAV3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CAV3:NM_001234:exon2:c.C233T:p.T78M,CAV3:NM_033337:exon2:c.C233T:p.T78M;cytoBand=3p25.3;genomicSuperDups=.;esp6500siv2_all=0.0043;esp6500siv2_ea=0.0044;esp6500siv2_all=0.0043;esp6500siv2_ea=0.0044;1000g2015aug_all=0.00199681;avsnp147=rs72546668;Kaviar_AF=0.0028395;Kaviar_AC=439;Kaviar_AN=154602;ExAC_ALL=0.0030;ExAC_AFR=0.0046;ExAC_AMR=0.0009;ExAC_EAS=0;ExAC_FIN=0.0039;ExAC_NFE=0.0042;ExAC_OTH=0.0022;ExAC_SAS=0.0004;CLNALLELEID=23332;CLNDN=Long_QT_syndrome|Long_QT_syndrome_9|Long_QT_syndrome_2/9,_digenic|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678485,OMIM:611818|MedGen:C3279093|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.076;SIFT_pred=T;Polyphen2_HDIV_score=0.973;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.738;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.999;MutationTaster_pred=D;MutationAssessor_score=1.67;MutationAssessor_pred=L;FATHMM_score=-3.08;FATHMM_pred=D;PROVEAN_score=-0.83;PROVEAN_pred=N;VEST3_score=0.8;CADD_raw=4.085;CADD_phred=23.7;DANN_score=0.998;fathmm-MKL_coding_score=0.931;fathmm-MKL_coding_pred=D;MetaSVM_score=0.466;MetaSVM_pred=D;MetaLR_score=0.710;MetaLR_pred=D;integrated_fitCons_score=0.428;integrated_confidence_value=0;GERP++_RS=4.63;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.892;phastCons7way_vertebrate=0.869;phastCons20way_mammalian=0.997;SiPhy_29way_logOdds=16.203;GDI_full_10282015=.;dpsi_max_tissue=0.4160;dpsi_zscore=1.040;hgmdCODING=HGMD::Long_QT_syndrome#17060380;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM065052#"Long_QT_syndrome";gnomAD_exome_ALL=0.0026;gnomAD_exome_AFR=0.0041;gnomAD_exome_AMR=0.0010;gnomAD_exome_ASJ=0.0040;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0028;gnomAD_exome_NFE=0.0037;gnomAD_exome_OTH=0.0031;gnomAD_exome_SAS=0.0005;gnomAD_genome_ALL=0.0031;gnomAD_genome_AFR=0.0040;gnomAD_genome_AMR=0.0048;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0043;gnomAD_genome_NFE=0.0027;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:DP:CLCAD2 . . 1:128:0,65 . . . . . . . . . . . . . . . 1:165:0,91 . . . . . . . . . . . . . . . . . . . . . . . 3 12626047 181515 G A 200.00 . #_unique_end_positions=,39;#_unique_start_positions=,37;AC=1;AF_EXAC_clinvar_20171029_hg19=,0.00003;ALLELEID_clinvar_20171029_hg19=,179043;AN=1;Amino_acid_change=,NP_002871.1:p.Thr638Met;Amino_acid_change_in_longest_transcript=,NP_002871.1:p.Thr638Met;BaseQRankSum=,0.0;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN166718|Orphanet:ORPHA98733|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Rasopathy|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000003.11:g.12626047G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;Coding_region_change=,NM_001271707.1:c.*2295G>A|_NM_002880.3:c.1913C>T|_NM_014160.4:c.*2295G>A;Coding_region_change_in_longest_transcript=,NM_002880.3:c.1913C>T;Exact_match=,clinvar_20171029_hg19;Forward_read_coverage=,42;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:5894;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:5894;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:9829;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:9829;Homo_sapiens_refseq_GRCh37.p13_Genes=,RAF1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_002880.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6965;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna10476;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:164760;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:164760;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6965;QUAL=,200.0;Read_count=,62;Read_coverage=,141;Read_direction_test_probability=,0.9440261729235385;Read_position_test_probability=,0.7422515973767296;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_002880.3;Reverse_read_coverage=,99;SF=15;conservation_score=,1.0;db_xref=,GeneID:5894|HGNC:HGNC:9829|MIM:164760;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:01265;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_002880.3|HPRD:01265;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Raf-1_proto-oncogene|_serine/threonine_kinase;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,RAF1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,RAF1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,c-Raf|CMD1NN|CRAF|NS5|Raf-1;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Raf-1_proto-oncogene|_serine/threonine_kinase;transcript_id=,NM_002880.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=RAF1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=RAF1:NM_002880:exon17:c.C1913T:p.T638M;cytoBand=3p25.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs730881007;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;ExAC_ALL=2.471e-05;ExAC_AFR=9.61e-05;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.498e-05;ExAC_OTH=0;ExAC_SAS=6.056e-05;CLNALLELEID=179043;CLNDN=Rasopathy|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.25;SIFT_pred=T;Polyphen2_HDIV_score=0.888;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.336;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=1.355;MutationAssessor_pred=L;FATHMM_score=-0.89;FATHMM_pred=T;PROVEAN_score=-0.72;PROVEAN_pred=N;VEST3_score=0.694;CADD_raw=2.621;CADD_phred=20.3;DANN_score=0.997;fathmm-MKL_coding_score=0.988;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.428;MetaSVM_pred=T;MetaLR_score=0.325;MetaLR_pred=T;integrated_fitCons_score=0.722;integrated_confidence_value=0;GERP++_RS=5.64;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.995;phastCons20way_mammalian=0.999;SiPhy_29way_logOdds=19.895;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.065e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=5.956e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=3.588e-05;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=9.746e-05;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . . . . . . . . 1:129:0,59 . . . . . . . . . . . . . . . . . . . . . . . . . . 3 14172381 46141;rs34099410 C T 200.00 . #_unique_end_positions=,48;#_unique_start_positions=,44;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0008;AF_ESP_clinvar_20171029_hg19=,0.0090;AF_EXAC_clinvar_20171029_hg19=,0.00804;AF_TGP_clinvar_20171029_hg19=,0.0040;ALLELEID_clinvar_20171029_hg19=,55306;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0058;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.29;CAF_dbsnp_common_v150_hg19_refseq=,0.996|0.003994;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1858379|OMIM:604400|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNDN_clinvar_20171029_hg19=,Arrhythmogenic_right_ventricular_cardiomyopathy|_type_5|not_specified|Cardiovascular_phenotype|Cardiomyopathy|_ARVC;CLNHGVS_clinvar_20171029_hg19=,NC_000003.11:g.14172381C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_conflicting_interpretations;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:131295;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_024334.2:c.222C>T;Coding_region_change_in_longest_transcript=,NM_024334.2:c.222C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0139;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,122;GENEINFO_dbsnp_common_v150_hg19_refseq=,TMEM43:79188;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:79188;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:79188;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:28472;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:28472;Homo_sapiens_refseq_GRCh37.p13_Genes=,TMEM43;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_024334.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6991;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna10506;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:612048;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:612048;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6991;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,14172381;RS_dbsnp_common_v150_hg19_refseq=,34099410;Read_count=,78;Read_coverage=,191;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.924937137427903;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_024334.2;Reverse_read_coverage=,69;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;SF=5;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.994093|0.005907;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128000305040536000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.232;db_xref=,GeneID:79188|HGNC:HGNC:28472|MIM:612048;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:15541;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_024334.2|HPRD:15541;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,transmembrane_protein_43;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TMEM43;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TMEM43;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARVC5|ARVD5|EDMD7|LUMA;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,transmembrane_protein_43;transcript_id=,NM_024334.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TMEM43;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TMEM43:NM_024334:exon3:c.C222T:p.P74P;cytoBand=3p25.1;genomicSuperDups=.;esp6500siv2_all=0.0090;esp6500siv2_ea=0.0121;esp6500siv2_all=0.0090;esp6500siv2_ea=0.0121;1000g2015aug_all=0.00399361;avsnp147=rs34099410;Kaviar_AF=0.0084928;Kaviar_AC=1313;Kaviar_AN=154602;ExAC_ALL=0.0080;ExAC_AFR=0.0025;ExAC_AMR=0.0058;ExAC_EAS=0;ExAC_FIN=0.0033;ExAC_NFE=0.0124;ExAC_OTH=0.0088;ExAC_SAS=0.0013;CLNALLELEID=55306;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy,_type_5|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1858379,OMIM:604400|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1222;dpsi_zscore=0.547;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0081;gnomAD_exome_AFR=0.0027;gnomAD_exome_AMR=0.0053;gnomAD_exome_ASJ=0.0063;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0037;gnomAD_exome_NFE=0.0137;gnomAD_exome_OTH=0.0086;gnomAD_exome_SAS=0.0019;gnomAD_genome_ALL=0.0078;gnomAD_genome_AFR=0.0028;gnomAD_genome_AMR=0.0119;gnomAD_genome_ASJ=0.0166;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0034;gnomAD_genome_NFE=0.0123;gnomAD_genome_OTH=0.0051;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . 1:166:0,69 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 3 14174427 46148;rs4685076 A T 183.10 . #_unique_end_positions=,11;#_unique_start_positions=,10;AC=16;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3026;AF_ESP_clinvar_20171029_hg19=,0.2876;AF_EXAC_clinvar_20171029_hg19=,0.32087;AF_TGP_clinvar_20171029_hg19=,0.3526;ALLELEID_clinvar_20171029_hg19=,55313;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3660;AN=16;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_077310.1:p.Lys168Asn;Amino_acid_change_in_longest_transcript=,NP_077310.1:p.Lys168Asn;BaseQRankSum=,0.58;CAF_dbsnp_common_v150_hg19_refseq=,0.6474|0.3526;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNDN_clinvar_20171029_hg19=,not_specified|Cardiovascular_phenotype|Cardiomyopathy|_ARVC;CLNHGVS_clinvar_20171029_hg19=,NC_000003.11:g.14174427A>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:31537|UniProtKB_(protein):Q9BTV4#VAR_031751;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_024334.2:c.504A>T;Coding_region_change_in_longest_transcript=,NM_024334.2:c.504A>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4613;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2545;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,18;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TMEM43:79188;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:79188;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:79188;Genotype=,A/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:28472;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:28472;Homo_sapiens_refseq_GRCh37.p13_Genes=,TMEM43;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_024334.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6991;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna10506;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:612048;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:612048;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6991;QUAL=,105.44021723168555;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,14174427;RS_dbsnp_common_v150_hg19_refseq=,4685076;Read_count=,15;Read_coverage=,31;Read_direction_test_probability=,0.9123674842484967;Read_position_test_probability=,0.9944166593042079;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_024334.2;Reverse_read_coverage=,13;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3998;SF=0,2,3,4,5,8,12,17,20,26,32,36,39;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.716292|0.283708;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128000a05170537000101;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.258333;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.443182;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.388889;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.291667;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:79188|HGNC:HGNC:28472|MIM:612048;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:15541;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_024334.2|HPRD:15541;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,transmembrane_protein_43;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TMEM43;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TMEM43;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARVC5|ARVD5|EDMD7|LUMA;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,transmembrane_protein_43;transcript_id=,NM_024334.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TMEM43;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TMEM43:NM_024334:exon6:c.A504T:p.K168N;cytoBand=3p25.1;genomicSuperDups=.;esp6500siv2_all=0.2876;esp6500siv2_ea=0.2878;esp6500siv2_all=0.2876;esp6500siv2_ea=0.2878;1000g2015aug_all=0.352636;avsnp147=rs4685076;Kaviar_AF=0.31735;Kaviar_AC=49063;Kaviar_AN=154602;ExAC_ALL=0.3209;ExAC_AFR=0.2861;ExAC_AMR=0.4409;ExAC_EAS=0.4366;ExAC_FIN=0.3004;ExAC_NFE=0.2792;ExAC_OTH=0.3521;ExAC_SAS=0.3728;CLNALLELEID=55313;CLNDN=not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.219;SIFT_pred=T;Polyphen2_HDIV_score=0.203;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.123;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.017;MutationTaster_pred=P;MutationAssessor_score=0.805;MutationAssessor_pred=L;FATHMM_score=1.3;FATHMM_pred=T;PROVEAN_score=-0.92;PROVEAN_pred=N;VEST3_score=0.122;CADD_raw=2.489;CADD_phred=19.40;DANN_score=0.994;fathmm-MKL_coding_score=0.854;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.896;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=1.56;phyloP7way_vertebrate=0.079;phyloP20way_mammalian=0.106;phastCons7way_vertebrate=0.999;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=7.874;GDI_full_10282015=.;dpsi_max_tissue=-0.0785;dpsi_zscore=-0.380;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3251;gnomAD_exome_AFR=0.2843;gnomAD_exome_AMR=0.4218;gnomAD_exome_ASJ=0.2501;gnomAD_exome_EAS=0.4396;gnomAD_exome_FIN=0.3009;gnomAD_exome_NFE=0.2838;gnomAD_exome_OTH=0.2966;gnomAD_exome_SAS=0.3720;gnomAD_genome_ALL=0.2969;gnomAD_genome_AFR=0.2786;gnomAD_genome_AMR=0.4212;gnomAD_genome_ASJ=0.2682;gnomAD_genome_EAS=0.4300;gnomAD_genome_FIN=0.2923;gnomAD_genome_NFE=0.2893;gnomAD_genome_OTH=0.2740;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:30:0,14 . 1:63:0,35 1:51:0,25 1:45:0,18 1/1:63:0,63 . . 1:98:0,42 . . . 1:78:0,30 . . . . 1/1:77:0,77 . . 1:57:0,27 . . . . . 1:60:0,29 . . . . . 1/1:63:0,63 . . . 1:60:0,30 . . 1:77:0,32 . . 3 14175262 46150;rs2340917 T C 196.90 . #_unique_end_positions=,32;#_unique_start_positions=,30;AC=17;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4508;AF_ESP_clinvar_20171029_hg19=,0.3328;AF_EXAC_clinvar_20171029_hg19=,0.37237;AF_TGP_clinvar_20171029_hg19=,0.4633;ALLELEID_clinvar_20171029_hg19=,55315;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5058;AN=17;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_077310.1:p.Met179Thr;Amino_acid_change_in_longest_transcript=,NP_077310.1:p.Met179Thr;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.5367|0.4633;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNDN_clinvar_20171029_hg19=,not_specified|Cardiovascular_phenotype|Cardiomyopathy|_ARVC;CLNHGVS_clinvar_20171029_hg19=,NC_000003.11:g.14175262T>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:31550|UniProtKB_(protein):Q9BTV4#VAR_031752;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_024334.2:c.536T>C;Coding_region_change_in_longest_transcript=,NM_024334.2:c.536T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6756;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2624;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,56;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TMEM43:79188;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:79188;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:79188;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:28472;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:28472;Homo_sapiens_refseq_GRCh37.p13_Genes=,TMEM43;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_024334.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6991;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna10506;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:612048;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:612048;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6991;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,14175262;RS_dbsnp_common_v150_hg19_refseq=,2340917;Read_count=,52;Read_coverage=,93;Read_direction_test_probability=,0.9375783351160547;Read_position_test_probability=,0.9576099582437754;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_024334.2;Reverse_read_coverage=,37;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4376;SF=0,2,3,4,5,8,12,17,20,25,26,32,36,39;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.64795|0.35205;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128000a05170537000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.408163;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.266667;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.646341;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.75;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.386364;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.711111;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.566667;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.577778;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.5;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.566434;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.261364;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.45;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.348;db_xref=,GeneID:79188|HGNC:HGNC:28472|MIM:612048;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:15541;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_024334.2|HPRD:15541;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,transmembrane_protein_43;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TMEM43;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TMEM43;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARVC5|ARVD5|EDMD7|LUMA;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,transmembrane_protein_43;transcript_id=,NM_024334.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TMEM43;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TMEM43:NM_024334:exon7:c.T536C:p.M179T;cytoBand=3p25.1;genomicSuperDups=.;esp6500siv2_all=0.3328;esp6500siv2_ea=0.2955;esp6500siv2_all=0.3328;esp6500siv2_ea=0.2955;1000g2015aug_all=0.463259;avsnp147=rs2340917;Kaviar_AF=0.366011;Kaviar_AC=56586;Kaviar_AN=154602;ExAC_ALL=0.3724;ExAC_AFR=0.4177;ExAC_AMR=0.5811;ExAC_EAS=0.6735;ExAC_FIN=0.3161;ExAC_NFE=0.2864;ExAC_OTH=0.3855;ExAC_SAS=0.4091;CLNALLELEID=55315;CLNDN=not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=0.999;MutationTaster_pred=P;MutationAssessor_score=-1.59;MutationAssessor_pred=N;FATHMM_score=1.6;FATHMM_pred=T;PROVEAN_score=2.58;PROVEAN_pred=N;VEST3_score=0.146;CADD_raw=0.428;CADD_phred=6.855;DANN_score=0.191;fathmm-MKL_coding_score=0.120;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.943;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=5.32;phyloP7way_vertebrate=0.002;phyloP20way_mammalian=0.040;phastCons7way_vertebrate=0.760;phastCons20way_mammalian=0.297;SiPhy_29way_logOdds=14.217;GDI_full_10282015=.;dpsi_max_tissue=2.6544;dpsi_zscore=2.156;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3782;gnomAD_exome_AFR=0.4174;gnomAD_exome_AMR=0.5584;gnomAD_exome_ASJ=0.2542;gnomAD_exome_EAS=0.6687;gnomAD_exome_FIN=0.3145;gnomAD_exome_NFE=0.2909;gnomAD_exome_OTH=0.3367;gnomAD_exome_SAS=0.4095;gnomAD_genome_ALL=0.3565;gnomAD_genome_AFR=0.4188;gnomAD_genome_AMR=0.5095;gnomAD_genome_ASJ=0.2682;gnomAD_genome_EAS=0.6592;gnomAD_genome_FIN=0.3033;gnomAD_genome_NFE=0.2967;gnomAD_genome_OTH=0.3037;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:76:0,42 . 1:72:0,34 1:54:0,25 1:67:0,30 1/1:68:0,68 . . 1:83:0,39 . . . 1:98:0,45 . . . . 1/1:95:0,95 . . 1:65:0,26 . . . . 1:58:0,25 1:61:0,26 . . . . . 1/1:79:0,79 . . . 1:64:0,37 . . 1:85:0,47 . . 3 14180706 46154;rs35100587 C T 200.00 . #_unique_end_positions=,34;#_unique_start_positions=,26;AC=2;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0363;AF_ESP_clinvar_20171029_hg19=,0.0213;AF_EXAC_clinvar_20171029_hg19=,0.01996;AF_TGP_clinvar_20171029_hg19=,0.0214;ALLELEID_clinvar_20171029_hg19=,55319;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0159;AN=2;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.02;CAF_dbsnp_common_v150_hg19_refseq=,0.9786|0.02137;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1858379|OMIM:604400|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNDN_clinvar_20171029_hg19=,Arrhythmogenic_right_ventricular_cardiomyopathy|_type_5|not_specified|Cardiovascular_phenotype|Cardiomyopathy|_ARVC;CLNHGVS_clinvar_20171029_hg19=,NC_000003.11:g.14180706C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:81624;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_024334.2:c.909C>T;Coding_region_change_in_longest_transcript=,NM_024334.2:c.909C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0239;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,71;GENEINFO_dbsnp_common_v150_hg19_refseq=,TMEM43:79188;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:79188;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:79188;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:28472;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:28472;Homo_sapiens_refseq_GRCh37.p13_Genes=,TMEM43;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_024334.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6991;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna10506;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:612048;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:612048;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6991;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,14180706;RS_dbsnp_common_v150_hg19_refseq=,35100587;Read_count=,56;Read_coverage=,118;Read_direction_test_probability=,0.9642704382924491;Read_position_test_probability=,0.9830488897097989;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_024334.2;Reverse_read_coverage=,47;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0245;SF=28,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.978261|0.0217391;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05012800030514053e000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:79188|HGNC:HGNC:28472|MIM:612048;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:15541;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_024334.2|HPRD:15541;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,transmembrane_protein_43;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TMEM43;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TMEM43;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARVC5|ARVD5|EDMD7|LUMA;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,transmembrane_protein_43;transcript_id=,NM_024334.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TMEM43;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TMEM43:NM_024334:exon11:c.C909T:p.S303S;cytoBand=3p25.1;genomicSuperDups=.;esp6500siv2_all=0.0213;esp6500siv2_ea=0.02;esp6500siv2_all=0.0213;esp6500siv2_ea=0.02;1000g2015aug_all=0.0213658;avsnp147=rs35100587;Kaviar_AF=0.0200838;Kaviar_AC=3105;Kaviar_AN=154602;ExAC_ALL=0.0200;ExAC_AFR=0.0288;ExAC_AMR=0.0092;ExAC_EAS=0;ExAC_FIN=0.0115;ExAC_NFE=0.0210;ExAC_OTH=0.0177;ExAC_SAS=0.0317;CLNALLELEID=55319;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy,_type_5|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1858379,OMIM:604400|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.7035;dpsi_zscore=-1.272;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0184;gnomAD_exome_AFR=0.0290;gnomAD_exome_AMR=0.0105;gnomAD_exome_ASJ=0.0056;gnomAD_exome_EAS=5.798e-05;gnomAD_exome_FIN=0.0117;gnomAD_exome_NFE=0.0213;gnomAD_exome_OTH=0.0179;gnomAD_exome_SAS=0.0307;gnomAD_genome_ALL=0.0195;gnomAD_genome_AFR=0.0284;gnomAD_genome_AMR=0.0143;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0132;gnomAD_genome_NFE=0.0181;gnomAD_genome_OTH=0.0214;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:104:0,49 . . . . . . . . . . . . 1:70:0,34 3 14180731 36873;rs113449357 C T 200.00 . #_unique_end_positions=,26;#_unique_start_positions=,26;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0098;AF_EXAC_clinvar_20171029_hg19=,0.00905;AF_TGP_clinvar_20171029_hg19=,0.0038;ALLELEID_clinvar_20171029_hg19=,45534;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0115;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_077310.1:p.Arg312Trp;Amino_acid_change_in_longest_transcript=,NP_077310.1:p.Arg312Trp;BaseQRankSum=,0.13;CAF_dbsnp_common_v150_hg19_refseq=,0.9962|0.003794;CLNDISDB_clinvar_20171029_hg19=,MedGen:C0878544|Orphanet:ORPHA167848|SNOMED_CT:85898001|MedGen:C1858379|OMIM:604400|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNDN_clinvar_20171029_hg19=,Cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy|_type_5|not_specified|Cardiovascular_phenotype|Cardiomyopathy|_ARVC;CLNHGVS_clinvar_20171029_hg19=,NC_000003.11:g.14180731C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:55274;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_024334.2:c.934C>T;Coding_region_change_in_longest_transcript=,NM_024334.2:c.934C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0099;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,69;GENEINFO_dbsnp_common_v150_hg19_refseq=,TMEM43:79188;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:79188;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:79188;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:28472;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:28472;Homo_sapiens_refseq_GRCh37.p13_Genes=,TMEM43;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_024334.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene6991;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna10506;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:612048;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:612048;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene6991;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,14180731;RS_dbsnp_common_v150_hg19_refseq=,113449357;Read_count=,43;Read_coverage=,115;Read_direction_test_probability=,0.9526498587897776;Read_position_test_probability=,0.916753572763536;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_024334.2;Reverse_read_coverage=,46;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;SF=12;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.989319|0.0106807;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050168000a05040436100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:79188|HGNC:HGNC:28472|MIM:612048;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:15541;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_024334.2|HPRD:15541;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,transmembrane_protein_43;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TMEM43;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TMEM43;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARVC5|ARVD5|EDMD7|LUMA;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,transmembrane_protein_43;transcript_id=,NM_024334.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TMEM43;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TMEM43:NM_024334:exon11:c.C934T:p.R312W;cytoBand=3p25.1;genomicSuperDups=.;esp6500siv2_all=0.0098;esp6500siv2_ea=0.0134;esp6500siv2_all=0.0098;esp6500siv2_ea=0.0134;1000g2015aug_all=0.00379393;avsnp147=rs113449357;Kaviar_AF=0.0092625;Kaviar_AC=1432;Kaviar_AN=154602;ExAC_ALL=0.0090;ExAC_AFR=0.0021;ExAC_AMR=0.0030;ExAC_EAS=0;ExAC_FIN=0.0354;ExAC_NFE=0.0113;ExAC_OTH=0.0143;ExAC_SAS=0.0023;CLNALLELEID=45534;CLNDN=Cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_5|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1858379,OMIM:604400|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.54;MutationAssessor_pred=M;FATHMM_score=-0.14;FATHMM_pred=T;PROVEAN_score=-7.55;PROVEAN_pred=D;VEST3_score=0.664;CADD_raw=7.570;CADD_phred=34;DANN_score=0.999;fathmm-MKL_coding_score=0.836;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.194;MetaSVM_pred=T;MetaLR_score=0.293;MetaLR_pred=T;integrated_fitCons_score=0.672;integrated_confidence_value=0;GERP++_RS=4.37;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.892;phastCons7way_vertebrate=0.986;phastCons20way_mammalian=0.999;SiPhy_29way_logOdds=15.207;GDI_full_10282015=.;dpsi_max_tissue=-0.5571;dpsi_zscore=-1.147;hgmdCODING=HGMD::Arrhythmogenic_right_ventricular_cardiomyopathy#23161701;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM1211063#"Arrhythmogenic_right_ventricular_cardiomyopathy";gnomAD_exome_ALL=0.0098;gnomAD_exome_AFR=0.0024;gnomAD_exome_AMR=0.0032;gnomAD_exome_ASJ=0.0010;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0354;gnomAD_exome_NFE=0.0121;gnomAD_exome_OTH=0.0089;gnomAD_exome_SAS=0.0026;gnomAD_genome_ALL=0.0114;gnomAD_genome_AFR=0.0022;gnomAD_genome_AMR=0.0060;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0366;gnomAD_genome_NFE=0.0123;gnomAD_genome_OTH=0.0143;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:DP:CLCAD2 . . . . . . . . . . . . 1:96:0,34 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 3 32181761 260571;rs9835387 C T 178.27 . #_unique_end_positions=,21;#_unique_start_positions=,18;AC=13;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2965;AF_ESP_clinvar_20171029_hg19=,0.1903;AF_EXAC_clinvar_20171029_hg19=,0.12859;AF_TGP_clinvar_20171029_hg19=,0.1498;ALLELEID_clinvar_20171029_hg19=,251091;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1182;AN=13;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.8502|0.1498;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1142166|Orphanet:ORPHA130|SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736;CLNDN_clinvar_20171029_hg19=,Brugada_syndrome|not_specified|Cardiovascular_phenotype;CLNHGVS_clinvar_20171029_hg19=,NC_000003.11:g.32181761C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:55424;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_015141.3:c.408C>T;Coding_region_change_in_longest_transcript=,NM_015141.3:c.408C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0020;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1362;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,28;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,GPD1L:23171;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:23171;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:23171;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:28956;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:28956;Homo_sapiens_refseq_GRCh37.p13_Genes=,GPD1L;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_015141.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene7149;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna10742;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:611778;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:611778;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene7149;QUAL=,83.85581313313452;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,32181761;RS_dbsnp_common_v150_hg19_refseq=,9835387;Read_count=,26;Read_coverage=,42;Read_direction_test_probability=,0.8500791279439917;Read_position_test_probability=,0.9252838722073552;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_015141.3;Reverse_read_coverage=,14;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1401;SF=7,8,9,12,13,17,19,23,27,29,30,35,38;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.793186|0.206814;TPA_dbsnp_common_v150_hg19_refseq=,TPA;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05033800030515053f000101;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.214286;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.183333;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.136364;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0222222;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.222222;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.07;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.167832;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.164773;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.341667;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:23171|HGNC:HGNC:28956|MIM:611778;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:10008;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_015141.3|HPRD:10008;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,glycerol-3-phosphate_dehydrogenase_1-like;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GPD1L;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GPD1L;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GPD1-L;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,glycerol-3-phosphate_dehydrogenase_1-like;transcript_id=,NM_015141.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GPD1L;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GPD1L:NM_015141:exon4:c.C408T:p.D136D;cytoBand=3p22.3;genomicSuperDups=.;esp6500siv2_all=0.1903;esp6500siv2_ea=0.1387;esp6500siv2_all=0.1903;esp6500siv2_ea=0.1387;1000g2015aug_all=0.14976;avsnp147=rs9835387;Kaviar_AF=0.129106;Kaviar_AC=19960;Kaviar_AN=154602;ExAC_ALL=0.1286;ExAC_AFR=0.3006;ExAC_AMR=0.0645;ExAC_EAS=0.0005;ExAC_FIN=0.0851;ExAC_NFE=0.1307;ExAC_OTH=0.1244;ExAC_SAS=0.1412;CLNALLELEID=251091;CLNDN=Brugada_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0282;dpsi_zscore=0.186;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1233;gnomAD_exome_AFR=0.3038;gnomAD_exome_AMR=0.0716;gnomAD_exome_ASJ=0.1208;gnomAD_exome_EAS=0.0007;gnomAD_exome_FIN=0.0965;gnomAD_exome_NFE=0.1348;gnomAD_exome_OTH=0.1169;gnomAD_exome_SAS=0.1384;gnomAD_genome_ALL=0.1626;gnomAD_genome_AFR=0.2965;gnomAD_genome_AMR=0.0875;gnomAD_genome_ASJ=0.1656;gnomAD_genome_EAS=0.0025;gnomAD_genome_FIN=0.0939;gnomAD_genome_NFE=0.1251;gnomAD_genome_OTH=0.1207;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . 1:39:0,25 1:70:0,27 1:57:0,22 . . 1:75:0,35 1:67:0,26 . . . 1:65:0,28 . 1:59:0,32 . . . 1:85:0,33 . . . 1:67:0,32 . 1:80:0,34 1:57:0,24 . . . . 1:54:0,22 . . 1:51:0,23 . . . 3 32200322 rs2305361 T C 194.99 . #_unique_end_positions=,29;#_unique_start_positions=,26;AC=24;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6036;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3617;AN=24;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.34;CAF_dbsnp_common_v150_hg19_refseq=,0.5206|0.4794;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_015141.3:c.619-46T>C;Coding_region_change_in_longest_transcript=,NM_015141.3:c.619-46T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6022;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3091;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,61;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,GPD1L:23171;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:23171;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:28956;Homo_sapiens_refseq_GRCh37.p13_Genes=,GPD1L;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene7149;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:611778;Non-synonymous=,-;Other_variants_within_codon=,No;QUAL=,200.0;RSPOS_dbsnp_common_v150_hg19_refseq=,32200322;RS_dbsnp_common_v150_hg19_refseq=,2305361;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,41;Read_coverage=,90;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9534709574693147;Reverse_read_coverage=,29;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4438;SF=1,3,6,9,11,13,14,16,17,20,22,25,26,27,30,31,33,34,36,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.579229|0.420771;U3_dbsnp_common_v150_hg19_refseq=,U3;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05010088000517013f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.308333;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.674419;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.585366;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.590909;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.0;db_xref=,GeneID:23171|HGNC:HGNC:28956|MIM:611778;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:10008;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,glycerol-3-phosphate_dehydrogenase_1-like;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GPD1L;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GPD1-L;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=GPD1L;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=3p22.3;genomicSuperDups=.;esp6500siv2_all=0.3838;esp6500siv2_ea=0.3065;esp6500siv2_all=0.3838;esp6500siv2_ea=0.3065;1000g2015aug_all=0.479433;avsnp147=rs2305361;Kaviar_AF=0.350979;Kaviar_AC=54262;Kaviar_AN=154602;ExAC_ALL=0.4000;ExAC_AFR=0.5632;ExAC_AMR=0.3870;ExAC_EAS=0.6116;ExAC_FIN=0.5012;ExAC_NFE=0.3354;ExAC_OTH=0.3758;ExAC_SAS=0.4231;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.6596;dpsi_zscore=-1.236;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3788;gnomAD_exome_AFR=0.5531;gnomAD_exome_AMR=0.3509;gnomAD_exome_ASJ=0.2701;gnomAD_exome_EAS=0.6012;gnomAD_exome_FIN=0.4727;gnomAD_exome_NFE=0.3094;gnomAD_exome_OTH=0.3554;gnomAD_exome_SAS=0.4144;gnomAD_genome_ALL=0.4186;gnomAD_genome_AFR=0.5423;gnomAD_genome_AMR=0.3437;gnomAD_genome_ASJ=0.2649;gnomAD_genome_EAS=0.6020;gnomAD_genome_FIN=0.4785;gnomAD_genome_NFE=0.3225;gnomAD_genome_OTH=0.3849;Whole_Blood=Whole_Blood::0.325203::-0.196532;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . 1:78:0,34 . 1:89:0,37 . . 1:74:0,42 . . 1:70:0,32 . 1/1:84:0,84 . 1:87:0,29 1:123:0,55 . 1:88:0,49 1:87:0,47 . . 1:92:0,31 . 1:129:0,49 . . 1:71:0,30 1:88:0,40 1/1:91:0,91 . . 1:82:0,49 1:67:0,34 . 1:75:0,31 1:83:0,38 . 1:69:0,32 . . . 1/1:91:0,91 1:81:0,36 3 38592406 48307;rs1805126 A G 200.00 . #_unique_end_positions=,38;#_unique_start_positions=,32;AC=29;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7042;AF_ESP_clinvar_20171029_hg19=,0.4314;AF_EXAC_clinvar_20171029_hg19=,0.38781;AF_TGP_clinvar_20171029_hg19=,0.4924;ALLELEID_clinvar_20171029_hg19=,57470;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4265;AN=29;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.01;CAF_dbsnp_common_v150_hg19_refseq=,0.5076|0.4924;CLNDISDB_clinvar_20171029_hg19=,MeSH:D008133|MedGen:C0023976|SNOMED_CT:9651007|MedGen:C0037052|Orphanet:ORPHA166282|SNOMED_CT:36083008|MedGen:C0340493|Orphanet:ORPHA228140|SNOMED_CT:233915000|MedGen:C1142166|Orphanet:ORPHA130|SNOMED_CT:418818005|MedGen:CN119492|SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN206278|Orphanet:ORPHA871|MedGen:CN230736|MedGen:CN239310;CLNDN_clinvar_20171029_hg19=,Long_QT_syndrome|Sick_sinus_syndrome|Paroxysmal_familial_ventricular_fibrillation|Brugada_syndrome|Romano-Ward_syndrome|not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant;CLNHGVS_clinvar_20171029_hg19=,NC_000003.11:g.38592406A>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:32071;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000335.4:c.5454T>C|_NM_001099404.1:c.5457T>C|_NM_001099405.1:c.5403T>C|_NM_001160160.1:c.5358T>C|_NM_001160161.1:c.5295T>C|_NM_198056.2:c.5457T>C;Coding_region_change_in_longest_transcript=,NM_001099404.1:c.5457T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5784;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3648;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,71;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,SCN5A:6331;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:6331;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:6331;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:10593;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:10593;Homo_sapiens_refseq_GRCh37.p13_Genes=,SCN5A;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001099405.1|NM_000335.4|NM_198056.2|NM_001099404.1|NM_001160161.1|NM_001160160.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene7232;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna10860|rna10858|rna10859|rna10861|rna10856|rna10857;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:600163;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:600163;MTP_dbsnp_common_v150_hg19_refseq=,MTP;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene7232;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,38592406;RS_dbsnp_common_v150_hg19_refseq=,1805126;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,62;Read_coverage=,126;Read_direction_test_probability=,0.90208404871107;Read_position_test_probability=,0.9845921897428327;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001099405.1|NM_000335.4|NM_198056.2|NM_001099404.1|NM_001160161.1|NM_001160160.1;Reverse_read_coverage=,55;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2955;SF=0,1,2,4,6,9,10,11,12,13,14,15,17,19,21,22,27,28,29,30,31,33,35,37;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.517858|0.482142;TPA_dbsnp_common_v150_hg19_refseq=,TPA;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05033800030517053f020100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.571429;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.318584;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.548781;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.505882;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.295455;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.616279;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.511628;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.788889;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.44;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.758741;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.363636;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.756637;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.385;db_xref=,GeneID:6331|HGNC:HGNC:10593|MIM:600163;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001099405.1|Genbank:NM_000335.4|Genbank:NM_198056.2|Genbank:NM_001099404.1|Genbank:NM_001160161.1|Genbank:NM_001160160.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,sodium_voltage-gated_channel_alpha_subunit_5;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SCN5A;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SCN5A;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CDCD2|CMD1E|CMPD2|HB1|HB2|HBBD|HH1|ICCD|IVF|LQT3|Nav1.5|PFHB1|SSS1|VF1;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,sodium_voltage-gated_channel_alpha_subunit_5|_transcript_variant_4|sodium_voltage-gated_channel_alpha_subunit_5|_transcript_variant_2|sodium_voltage-gated_channel_alpha_subunit_5|_transcript_variant_1|sodium_voltage-gated_channel_alpha_subunit_5|_transcript_variant_3|sodium_voltage-gated_channel_alpha_subunit_5|_transcript_variant_6|sodium_voltage-gated_channel_alpha_subunit_5|_transcript_variant_5;transcript_id=,NM_001099405.1|NM_000335.4|NM_198056.2|NM_001099404.1|NM_001160161.1|NM_001160160.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN5A:NM_001099405:exon27:c.T5403C:p.D1801D,SCN5A:NM_001160161:exon27:c.T5295C:p.D1765D,SCN5A:NM_000335:exon28:c.T5454C:p.D1818D,SCN5A:NM_001099404:exon28:c.T5457C:p.D1819D,SCN5A:NM_001160160:exon28:c.T5358C:p.D1786D,SCN5A:NM_198056:exon28:c.T5457C:p.D1819D;cytoBand=3p22.2;genomicSuperDups=.;esp6500siv2_all=0.4314;esp6500siv2_ea=0.3336;esp6500siv2_all=0.4314;esp6500siv2_ea=0.3336;1000g2015aug_all=0.492412;avsnp147=rs1805126;Kaviar_AF=0.379568;Kaviar_AC=58682;Kaviar_AN=154602;ExAC_ALL=0.3878;ExAC_AFR=0.6508;ExAC_AMR=0.3916;ExAC_EAS=0.5534;ExAC_FIN=0.4433;ExAC_NFE=0.3338;ExAC_OTH=0.4180;ExAC_SAS=0.3364;CLNALLELEID=57470;CLNDN=Long_QT_syndrome|Sick_sinus_syndrome|Paroxysmal_familial_ventricular_fibrillation|Brugada_syndrome|Romano-Ward_syndrome|not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0037052,Orphanet:ORPHA166282,SNOMED_CT:36083008|MedGen:C0340493,Orphanet:ORPHA228140,SNOMED_CT:233915000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN206278,Orphanet:ORPHA871|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM057565#"Longer_QT_interval_association_with";gnomAD_exome_ALL=0.3872;gnomAD_exome_AFR=0.6551;gnomAD_exome_AMR=0.3766;gnomAD_exome_ASJ=0.3401;gnomAD_exome_EAS=0.5575;gnomAD_exome_FIN=0.4431;gnomAD_exome_NFE=0.3339;gnomAD_exome_OTH=0.3999;gnomAD_exome_SAS=0.3359;gnomAD_genome_ALL=0.4472;gnomAD_genome_AFR=0.6625;gnomAD_genome_AMR=0.3765;gnomAD_genome_ASJ=0.3367;gnomAD_genome_EAS=0.5580;gnomAD_genome_FIN=0.4376;gnomAD_genome_NFE=0.3240;gnomAD_genome_OTH=0.3633;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 1:109:0,56 1:236:0,111 1/1:203:0,203 . 1:143:0,64 . 1:152:0,71 . . 1/1:172:0,171 1:247:0,119 1/1:177:0,177 1:262:0,115 1:239:0,122 1:335:0,167 1:221:0,94 . 1:232:0,104 . 1:197:0,99 . 1:183:0,80 1/1:288:0,288 . . . . 1:278:0,120 1:255:0,104 1:279:0,145 1:243:0,94 1:133:0,65 . 1/1:168:0,168 . 1:231:0,118 . 1:181:0,92 . . . . 3 38597180 36763;rs45548237 G A 200.00 . #_unique_end_positions=,54;#_unique_start_positions=,41;AC=3;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0031;AF_EXAC_clinvar_20171029_hg19=,0.00315;AF_TGP_clinvar_20171029_hg19=,0.0012;ALLELEID_clinvar_20171029_hg19=,45424;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0043;AN=3;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.56;CAF_dbsnp_common_v150_hg19_refseq=,0.9988|0.001198;CLNDISDB_clinvar_20171029_hg19=,MeSH:D008133|MedGen:C0023976|SNOMED_CT:9651007|MedGen:C1142166|Orphanet:ORPHA130|SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736;CLNDN_clinvar_20171029_hg19=,Long_QT_syndrome|Brugada_syndrome|not_specified|Cardiovascular_phenotype;CLNHGVS_clinvar_20171029_hg19=,NC_000003.11:g.38597180G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000335.4:c.4506C>T|_NM_001099404.1:c.4509C>T|_NM_001099405.1:c.4455C>T|_NM_001160160.1:c.4506C>T|_NM_001160161.1:c.4347C>T|_NM_198056.2:c.4509C>T;Coding_region_change_in_longest_transcript=,NM_001099404.1:c.4509C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0020;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,56;GENEINFO_dbsnp_common_v150_hg19_refseq=,SCN5A:6331;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:6331;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:6331;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:10593;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:10593;Homo_sapiens_refseq_GRCh37.p13_Genes=,SCN5A;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001099405.1|NM_000335.4|NM_198056.2|NM_001099404.1|NM_001160161.1|NM_001160160.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene7232;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna10860|rna10858|rna10859|rna10861|rna10856|rna10857;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:600163;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:600163;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene7232;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,38597180;RS_dbsnp_common_v150_hg19_refseq=,45548237;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,84;Read_coverage=,184;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.7002498270682808;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001099405.1|NM_000335.4|NM_198056.2|NM_001099404.1|NM_001160161.1|NM_001160160.1;Reverse_read_coverage=,128;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;SF=13,36,40;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.997493|0.00250704;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050068000305040036100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:6331|HGNC:HGNC:10593|MIM:600163;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001099405.1|Genbank:NM_000335.4|Genbank:NM_198056.2|Genbank:NM_001099404.1|Genbank:NM_001160161.1|Genbank:NM_001160160.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,sodium_voltage-gated_channel_alpha_subunit_5;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SCN5A;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SCN5A;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CDCD2|CMD1E|CMPD2|HB1|HB2|HBBD|HH1|ICCD|IVF|LQT3|Nav1.5|PFHB1|SSS1|VF1;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,sodium_voltage-gated_channel_alpha_subunit_5|_transcript_variant_4|sodium_voltage-gated_channel_alpha_subunit_5|_transcript_variant_2|sodium_voltage-gated_channel_alpha_subunit_5|_transcript_variant_1|sodium_voltage-gated_channel_alpha_subunit_5|_transcript_variant_3|sodium_voltage-gated_channel_alpha_subunit_5|_transcript_variant_6|sodium_voltage-gated_channel_alpha_subunit_5|_transcript_variant_5;transcript_id=,NM_001099405.1|NM_000335.4|NM_198056.2|NM_001099404.1|NM_001160161.1|NM_001160160.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN5A:NM_001099405:exon25:c.C4455T:p.S1485S,SCN5A:NM_001160161:exon25:c.C4347T:p.S1449S,SCN5A:NM_000335:exon26:c.C4506T:p.S1502S,SCN5A:NM_001099404:exon26:c.C4509T:p.S1503S,SCN5A:NM_001160160:exon26:c.C4506T:p.S1502S,SCN5A:NM_198056:exon26:c.C4509T:p.S1503S;cytoBand=3p22.2;genomicSuperDups=.;esp6500siv2_all=0.0031;esp6500siv2_ea=0.0045;esp6500siv2_all=0.0031;esp6500siv2_ea=0.0045;1000g2015aug_all=0.00119808;avsnp147=rs45548237;Kaviar_AF=0.0030207;Kaviar_AC=467;Kaviar_AN=154602;ExAC_ALL=0.0031;ExAC_AFR=0.0004;ExAC_AMR=0.0021;ExAC_EAS=0;ExAC_FIN=0.0080;ExAC_NFE=0.0044;ExAC_OTH=0.0022;ExAC_SAS=0.0005;CLNALLELEID=45424;CLNDN=Long_QT_syndrome|Brugada_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.1493;dpsi_zscore=-1.554;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0033;gnomAD_exome_AFR=0.0007;gnomAD_exome_AMR=0.0023;gnomAD_exome_ASJ=0.0006;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0074;gnomAD_exome_NFE=0.0047;gnomAD_exome_OTH=0.0038;gnomAD_exome_SAS=0.0002;gnomAD_genome_ALL=0.0040;gnomAD_genome_AFR=0.0006;gnomAD_genome_AMR=0.0036;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0066;gnomAD_genome_NFE=0.0060;gnomAD_genome_OTH=0.0041;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . . . . . . 1:166:0,79 . . . . . . . . . . . . . . . . . . . . . . 1:100:0,57 . . . 1:145:0,74 . 3 38601665 36761;rs41311123 C T 200.00 . #_unique_end_positions=,47;#_unique_start_positions=,35;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0015;AF_ESP_clinvar_20171029_hg19=,0.0103;AF_EXAC_clinvar_20171029_hg19=,0.00880;AF_TGP_clinvar_20171029_hg19=,0.0036;ALLELEID_clinvar_20171029_hg19=,45422;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0029;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.9964|.|0.003594;CLNDISDB_clinvar_20171029_hg19=,MedGen:C0878544|Orphanet:ORPHA167848|SNOMED_CT:85898001|MedGen:C1142166|Orphanet:ORPHA130|SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736;CLNDN_clinvar_20171029_hg19=,Cardiomyopathy|Brugada_syndrome|not_specified|Cardiovascular_phenotype;CLNHGVS_clinvar_20171029_hg19=,NC_000003.11:g.38601665C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000335.4:c.4215G>A|_NM_001099404.1:c.4218G>A|_NM_001099405.1:c.4218G>A|_NM_001160160.1:c.4215G>A|_NM_001160161.1:c.4056G>A|_NM_198056.2:c.4218G>A;Coding_region_change_in_longest_transcript=,NM_001099404.1:c.4218G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0119;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,88;GENEINFO_dbsnp_common_v150_hg19_refseq=,SCN5A:6331;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:6331;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:6331;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:10593;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:10593;Homo_sapiens_refseq_GRCh37.p13_Genes=,SCN5A;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001099405.1|NM_000335.4|NM_198056.2|NM_001099404.1|NM_001160161.1|NM_001160160.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene7232;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna10860|rna10858|rna10859|rna10861|rna10856|rna10857;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:600163;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:600163;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene7232;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,38601665;RS_dbsnp_common_v150_hg19_refseq=,41311123;Read_count=,63;Read_coverage=,133;Read_direction_test_probability=,0.6712429514387701;Read_position_test_probability=,0.7425667682838804;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001099405.1|NM_000335.4|NM_198056.2|NM_001099404.1|NM_001160161.1|NM_001160160.1;Reverse_read_coverage=,45;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0020;SF=9;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.99478|.|0.00522014;TPA_dbsnp_common_v150_hg19_refseq=,TPA;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050178000305040536100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.971;db_xref=,GeneID:6331|HGNC:HGNC:10593|MIM:600163;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001099405.1|Genbank:NM_000335.4|Genbank:NM_198056.2|Genbank:NM_001099404.1|Genbank:NM_001160161.1|Genbank:NM_001160160.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,sodium_voltage-gated_channel_alpha_subunit_5;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SCN5A;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SCN5A;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CDCD2|CMD1E|CMPD2|HB1|HB2|HBBD|HH1|ICCD|IVF|LQT3|Nav1.5|PFHB1|SSS1|VF1;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,sodium_voltage-gated_channel_alpha_subunit_5|_transcript_variant_4|sodium_voltage-gated_channel_alpha_subunit_5|_transcript_variant_2|sodium_voltage-gated_channel_alpha_subunit_5|_transcript_variant_1|sodium_voltage-gated_channel_alpha_subunit_5|_transcript_variant_3|sodium_voltage-gated_channel_alpha_subunit_5|_transcript_variant_6|sodium_voltage-gated_channel_alpha_subunit_5|_transcript_variant_5;transcript_id=,NM_001099405.1|NM_000335.4|NM_198056.2|NM_001099404.1|NM_001160161.1|NM_001160160.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN5A:NM_001160161:exon22:c.G4056A:p.G1352G,SCN5A:NM_000335:exon23:c.G4215A:p.G1405G,SCN5A:NM_001099404:exon23:c.G4218A:p.G1406G,SCN5A:NM_001099405:exon23:c.G4218A:p.G1406G,SCN5A:NM_001160160:exon23:c.G4215A:p.G1405G,SCN5A:NM_198056:exon23:c.G4218A:p.G1406G;cytoBand=3p22.2;genomicSuperDups=.;esp6500siv2_all=0.0103;esp6500siv2_ea=0.0138;esp6500siv2_all=0.0103;esp6500siv2_ea=0.0138;1000g2015aug_all=0.00359425;avsnp147=rs41311123;Kaviar_AF=0.0084734;Kaviar_AC=1310;Kaviar_AN=154602;ExAC_ALL=0.0088;ExAC_AFR=0.0036;ExAC_AMR=0.0033;ExAC_EAS=0;ExAC_FIN=0.0095;ExAC_NFE=0.0131;ExAC_OTH=0.0038;ExAC_SAS=0.0028;CLNALLELEID=45422;CLNDN=Cardiomyopathy|Brugada_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.2188;dpsi_zscore=0.758;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0078;gnomAD_exome_AFR=0.0032;gnomAD_exome_AMR=0.0026;gnomAD_exome_ASJ=0.0011;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0070;gnomAD_exome_NFE=0.0134;gnomAD_exome_OTH=0.0066;gnomAD_exome_SAS=0.0028;gnomAD_genome_ALL=0.0078;gnomAD_genome_AFR=0.0027;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0074;gnomAD_genome_NFE=0.0123;gnomAD_genome_OTH=0.0051;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . 1:121:0,60 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 3 38622467 48297;rs7430407 T C 190.60 . #_unique_end_positions=,50;#_unique_start_positions=,50;AC=69;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.8661;ALLELEID_clinvar_20171029_hg19=,57460;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9164;AN=69;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.1;CAF_dbsnp_common_v150_hg19_refseq=,0.07688|0.9231|.;CLNDISDB_clinvar_20171029_hg19=,MeSH:D008133|MedGen:C0023976|SNOMED_CT:9651007|MedGen:C0037052|Orphanet:ORPHA166282|SNOMED_CT:36083008|MedGen:C0340493|Orphanet:ORPHA228140|SNOMED_CT:233915000|MedGen:C1142166|Orphanet:ORPHA130|SNOMED_CT:418818005|MedGen:CN119492|SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN206278|Orphanet:ORPHA871|MedGen:CN230736|MedGen:CN239310;CLNDN_clinvar_20171029_hg19=,Long_QT_syndrome|Sick_sinus_syndrome|Paroxysmal_familial_ventricular_fibrillation|Brugada_syndrome|Romano-Ward_syndrome|not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant;CLNHGVS_clinvar_20171029_hg19=,NC_000003.11:g.38622467T>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:32056;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000335.4:c.3183A>G|_NM_001099404.1:c.3183A>G|_NM_001099405.1:c.3183A>G|_NM_001160160.1:c.3183A>G|_NM_001160161.1:c.3183A>G|_NM_198056.2:c.3183A>G;Coding_region_change_in_longest_transcript=,NM_001099404.1:c.3183A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9970;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9085;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,71;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,SCN5A:6331;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:6331;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:6331;Genotype=,C/C;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:10593;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:10593;Homo_sapiens_refseq_GRCh37.p13_Genes=,SCN5A;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001099405.1|NM_000335.4|NM_198056.2|NM_001099404.1|NM_001160161.1|NM_001160160.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene7232;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna10860|rna10858|rna10859|rna10861|rna10856|rna10857;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:600163;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:600163;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene7232;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,38622467;RS_dbsnp_common_v150_hg19_refseq=,7430407;Read_count=,102;Read_coverage=,102;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001099405.1|NM_000335.4|NM_198056.2|NM_001099404.1|NM_001160161.1|NM_001160160.1;Reverse_read_coverage=,31;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9438;SF=0,1,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,34,35,36,37,38,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.110516|0.889484|.;TPA_dbsnp_common_v150_hg19_refseq=,TPA;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05013800030515053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.918367;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.889381;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.954545;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,1;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,1;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.761111;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.93;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.685315;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.903409;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.889381;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.767;db_xref=,GeneID:6331|HGNC:HGNC:10593|MIM:600163;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001099405.1|Genbank:NM_000335.4|Genbank:NM_198056.2|Genbank:NM_001099404.1|Genbank:NM_001160161.1|Genbank:NM_001160160.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,sodium_voltage-gated_channel_alpha_subunit_5;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SCN5A;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SCN5A;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CDCD2|CMD1E|CMPD2|HB1|HB2|HBBD|HH1|ICCD|IVF|LQT3|Nav1.5|PFHB1|SSS1|VF1;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,sodium_voltage-gated_channel_alpha_subunit_5|_transcript_variant_4|sodium_voltage-gated_channel_alpha_subunit_5|_transcript_variant_2|sodium_voltage-gated_channel_alpha_subunit_5|_transcript_variant_1|sodium_voltage-gated_channel_alpha_subunit_5|_transcript_variant_3|sodium_voltage-gated_channel_alpha_subunit_5|_transcript_variant_6|sodium_voltage-gated_channel_alpha_subunit_5|_transcript_variant_5;transcript_id=,NM_001099405.1|NM_000335.4|NM_198056.2|NM_001099404.1|NM_001160161.1|NM_001160160.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN5A:NM_000335:exon17:c.A3183G:p.E1061E,SCN5A:NM_001099404:exon17:c.A3183G:p.E1061E,SCN5A:NM_001099405:exon17:c.A3183G:p.E1061E,SCN5A:NM_001160160:exon17:c.A3183G:p.E1061E,SCN5A:NM_001160161:exon17:c.A3183G:p.E1061E,SCN5A:NM_198056:exon17:c.A3183G:p.E1061E;cytoBand=3p22.2;genomicSuperDups=.;esp6500siv2_all=0.8850;esp6500siv2_ea=0.8830;esp6500siv2_all=0.8850;esp6500siv2_ea=0.8830;1000g2015aug_all=0.923123;avsnp147=rs7430407;Kaviar_AF=0.898106;Kaviar_AC=138849;Kaviar_AN=154602;ExAC_ALL=0.9128;ExAC_AFR=0.8880;ExAC_AMR=0.9542;ExAC_EAS=0.9990;ExAC_FIN=0.9254;ExAC_NFE=0.8898;ExAC_OTH=0.9195;ExAC_SAS=0.9410;CLNALLELEID=57460;CLNDN=Long_QT_syndrome|Sick_sinus_syndrome|Paroxysmal_familial_ventricular_fibrillation|Brugada_syndrome|Romano-Ward_syndrome|not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0037052,Orphanet:ORPHA166282,SNOMED_CT:36083008|MedGen:C0340493,Orphanet:ORPHA228140,SNOMED_CT:233915000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN206278,Orphanet:ORPHA871|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-2.2623;dpsi_zscore=-1.977;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CS1510231#"Long_QT_syndrome";gnomAD_exome_ALL=0.9140;gnomAD_exome_AFR=0.8882;gnomAD_exome_AMR=0.9447;gnomAD_exome_ASJ=0.8678;gnomAD_exome_EAS=0.9992;gnomAD_exome_FIN=0.9283;gnomAD_exome_NFE=0.8897;gnomAD_exome_OTH=0.9012;gnomAD_exome_SAS=0.9399;gnomAD_genome_ALL=0.9032;gnomAD_genome_AFR=0.8836;gnomAD_genome_AMR=0.9284;gnomAD_genome_ASJ=0.8742;gnomAD_genome_EAS=0.9994;gnomAD_genome_FIN=0.9242;gnomAD_genome_NFE=0.8978;gnomAD_genome_OTH=0.9155;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 1/1:89:0,89 1/1:168:0,168 . 1/1:173:0,173 1/1:129:0,129 1/1:159:0,159 1/1:137:0,137 1:150:0,78 1/1:158:0,158 1/1:179:0,179 1/1:227:0,227 1:179:0,93 1/1:159:0,159 1/1:209:0,209 1:242:0,120 1:212:0,116 1:159:0,75 1/1:178:0,178 1/1:153:0,153 1:179:0,79 1/1:159:0,159 1/1:173:0,173 1:217:0,112 1/1:254:0,254 1:230:0,105 1/1:167:0,167 1/1:172:0,172 1/1:223:0,223 1/1:253:0,253 1/1:261:0,261 1/1:164:0,164 1/1:109:0,109 1/1:148:0,148 . 1:164:0,87 1:181:0,81 1/1:161:0,161 1:97:0,49 1/1:137:0,137 1/1:224:0,224 1/1:206:0,206 1/1:149:0,148 3 38629013 48294 C T 200.00 . #_unique_end_positions=,23;#_unique_start_positions=,25;AC=1;AF_EXAC_clinvar_20171029_hg19=,0.00002;ALLELEID_clinvar_20171029_hg19=,57457;AN=1;Amino_acid_change=,NP_932173.1:p.Asp772Asn|_NP_000326.2:p.Asp772Asn|_NP_001092874.1:p.Asp772Asn|_NP_001092875.1:p.Asp772Asn|_NP_001153633.1:p.Asp772Asn|_NP_001153632.1:p.Asp772Asn;Amino_acid_change_in_longest_transcript=,NP_932173.1:p.Asp772Asn;BaseQRankSum=,0.0;CLNDISDB_clinvar_20171029_hg19=,MedGen:C0007193|Orphanet:ORPHA217604|SNOMED_CT:195021004|MedGen:C0878544|Orphanet:ORPHA167848|SNOMED_CT:85898001|MedGen:C1141890|Orphanet:ORPHA768|SNOMED_CT:442917000|MedGen:C1142166|Orphanet:ORPHA130|SNOMED_CT:418818005|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Primary_dilated_cardiomyopathy|Cardiomyopathy|Congenital_long_QT_syndrome|Brugada_syndrome|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000003.11:g.38629013C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,UniProtKB_(protein):Q14524#VAR_074382;Coding_region_change=,NM_000335.4:c.2314G>A|_NM_001099404.1:c.2314G>A|_NM_001099405.1:c.2314G>A|_NM_001160160.1:c.2314G>A|_NM_001160161.1:c.2314G>A|_NM_198056.2:c.2314G>A;Coding_region_change_in_longest_transcript=,NM_198056.2:c.2314G>A;Exact_match=,clinvar_20171029_hg19;Forward_read_coverage=,35;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:6331;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:6331;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:10593;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:10593;Homo_sapiens_refseq_GRCh37.p13_Genes=,SCN5A;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001099405.1|NM_000335.4|NM_198056.2|NM_001099404.1|NM_001160161.1|NM_001160160.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene7232;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna10860|rna10858|rna10859|rna10861|rna10856|rna10857;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:600163;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:600163;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene7232;QUAL=,200.0;Read_count=,32;Read_coverage=,72;Read_direction_test_probability=,0.9949776891547777;Read_position_test_probability=,0.9091032636866015;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001099405.1|NM_000335.4|NM_198056.2|NM_001099404.1|NM_001160161.1|NM_001160160.1;Reverse_read_coverage=,37;SF=2;conservation_score=,0.98;db_xref=,GeneID:6331|HGNC:HGNC:10593|MIM:600163;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001099405.1|Genbank:NM_000335.4|Genbank:NM_198056.2|Genbank:NM_001099404.1|Genbank:NM_001160161.1|Genbank:NM_001160160.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,sodium_voltage-gated_channel_alpha_subunit_5;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SCN5A;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SCN5A;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CDCD2|CMD1E|CMPD2|HB1|HB2|HBBD|HH1|ICCD|IVF|LQT3|Nav1.5|PFHB1|SSS1|VF1;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,sodium_voltage-gated_channel_alpha_subunit_5|_transcript_variant_4|sodium_voltage-gated_channel_alpha_subunit_5|_transcript_variant_2|sodium_voltage-gated_channel_alpha_subunit_5|_transcript_variant_1|sodium_voltage-gated_channel_alpha_subunit_5|_transcript_variant_3|sodium_voltage-gated_channel_alpha_subunit_5|_transcript_variant_6|sodium_voltage-gated_channel_alpha_subunit_5|_transcript_variant_5;transcript_id=,NM_001099405.1|NM_000335.4|NM_198056.2|NM_001099404.1|NM_001160161.1|NM_001160160.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN5A:NM_000335:exon15:c.G2314A:p.D772N,SCN5A:NM_001099404:exon15:c.G2314A:p.D772N,SCN5A:NM_001099405:exon15:c.G2314A:p.D772N,SCN5A:NM_001160160:exon15:c.G2314A:p.D772N,SCN5A:NM_001160161:exon15:c.G2314A:p.D772N,SCN5A:NM_198056:exon15:c.G2314A:p.D772N;cytoBand=3p22.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs199473157;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;ExAC_ALL=1.658e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.499e-05;ExAC_OTH=0;ExAC_SAS=6.069e-05;CLNALLELEID=57457;CLNDN=Primary_dilated_cardiomyopathy|Cardiomyopathy|Congenital_long_QT_syndrome|Brugada_syndrome|not_specified;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1141890,Orphanet:ORPHA768,SNOMED_CT:442917000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.003;SIFT_pred=D;Polyphen2_HDIV_score=0.997;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.718;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.999;MutationTaster_pred=D;MutationAssessor_score=2.01;MutationAssessor_pred=M;FATHMM_score=-4.44;FATHMM_pred=D;PROVEAN_score=-4.44;PROVEAN_pred=D;VEST3_score=0.457;CADD_raw=7.044;CADD_phred=33;DANN_score=0.999;fathmm-MKL_coding_score=0.924;fathmm-MKL_coding_pred=D;MetaSVM_score=0.987;MetaSVM_pred=D;MetaLR_score=0.902;MetaLR_pred=D;integrated_fitCons_score=0.706;integrated_confidence_value=0;GERP++_RS=4.14;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.995;phastCons20way_mammalian=0.996;SiPhy_29way_logOdds=13.272;GDI_full_10282015=.;dpsi_max_tissue=-2.8537;dpsi_zscore=-2.120;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM097652#"Long_QT_syndrome";gnomAD_exome_ALL=2.031e-05;gnomAD_exome_AFR=6.539e-05;gnomAD_exome_AMR=2.978e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=8.951e-06;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=3.249e-05;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=10 GT:DP:CLCAD2 . . 1:66:0,31 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 3 38645281 . C A 200.00 . #_unique_end_positions=,34;#_unique_start_positions=,34;AC=1;AN=1;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.15;Coding_region_change=,NM_000335.4:c.1812G>T|_NM_001099404.1:c.1812G>T|_NM_001099405.1:c.1812G>T|_NM_001160160.1:c.1812G>T|_NM_001160161.1:c.1812G>T|_NM_198056.2:c.1812G>T;Coding_region_change_in_longest_transcript=,NM_001099404.1:c.1812G>T;Forward_read_coverage=,65;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:6331;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:6331;Genotype=,A/C;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:10593;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:10593;Homo_sapiens_refseq_GRCh37.p13_Genes=,SCN5A;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001099405.1|NM_000335.4|NM_198056.2|NM_001099404.1|NM_001160161.1|NM_001160160.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene7232;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna10860|rna10858|rna10859|rna10861|rna10856|rna10857;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:600163;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:600163;Non-synonymous=,No;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene7232;QUAL=,200.0;Read_count=,69;Read_coverage=,123;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.6630362585560257;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001099405.1|NM_000335.4|NM_198056.2|NM_001099404.1|NM_001160161.1|NM_001160160.1;Reverse_read_coverage=,58;SF=5;conservation_score=,1.0;db_xref=,GeneID:6331|HGNC:HGNC:10593|MIM:600163;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001099405.1|Genbank:NM_000335.4|Genbank:NM_198056.2|Genbank:NM_001099404.1|Genbank:NM_001160161.1|Genbank:NM_001160160.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,sodium_voltage-gated_channel_alpha_subunit_5;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SCN5A;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SCN5A;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CDCD2|CMD1E|CMPD2|HB1|HB2|HBBD|HH1|ICCD|IVF|LQT3|Nav1.5|PFHB1|SSS1|VF1;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,sodium_voltage-gated_channel_alpha_subunit_5|_transcript_variant_4|sodium_voltage-gated_channel_alpha_subunit_5|_transcript_variant_2|sodium_voltage-gated_channel_alpha_subunit_5|_transcript_variant_1|sodium_voltage-gated_channel_alpha_subunit_5|_transcript_variant_3|sodium_voltage-gated_channel_alpha_subunit_5|_transcript_variant_6|sodium_voltage-gated_channel_alpha_subunit_5|_transcript_variant_5;transcript_id=,NM_001099405.1|NM_000335.4|NM_198056.2|NM_001099404.1|NM_001160161.1|NM_001160160.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN5A:NM_000335:exon12:c.G1812T:p.L604L,SCN5A:NM_001099404:exon12:c.G1812T:p.L604L,SCN5A:NM_001099405:exon12:c.G1812T:p.L604L,SCN5A:NM_001160160:exon12:c.G1812T:p.L604L,SCN5A:NM_001160161:exon12:c.G1812T:p.L604L,SCN5A:NM_198056:exon12:c.G1812T:p.L604L;cytoBand=3p22.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.7087;dpsi_zscore=1.318;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . 1:104:0,57 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 3 38645420 48289;rs1805124 T C 190.92 . #_unique_end_positions=,88;#_unique_start_positions=,89;AC=23;AF_ESP_clinvar_20171029_hg19=,0.2463;AF_EXAC_clinvar_20171029_hg19=,0.22174;AF_TGP_clinvar_20171029_hg19=,0.2304;ALLELEID_clinvar_20171029_hg19=,38447;AN=23;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_000326.2:p.His558Arg|_NP_001092875.1:p.His558Arg|_NP_932173.1:p.His558Arg|_NP_001153633.1:p.His558Arg|_NP_001153632.1:p.His558Arg|_NP_001092874.1:p.His558Arg;Amino_acid_change_in_longest_transcript=,NP_932173.1:p.His558Arg;BaseQRankSum=,-0.32;CAF_dbsnp_common_v150_hg19_refseq=,0.7696|0.2304;CLNDISDBINCL_clinvar_20171029_hg19=,MedGen:C1879286|OMIM:113900;CLNDISDB_clinvar_20171029_hg19=,MeSH:D008133|MedGen:C0023976|SNOMED_CT:9651007|MedGen:C0037052|Orphanet:ORPHA166282|SNOMED_CT:36083008|MedGen:C0340493|Orphanet:ORPHA228140|SNOMED_CT:233915000|MedGen:C1142166|Orphanet:ORPHA130|SNOMED_CT:418818005|MedGen:CN119492|SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN206278|Orphanet:ORPHA871|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202;CLNDNINCL_clinvar_20171029_hg19=,Progressive_familial_heart_block_type_1A;CLNDN_clinvar_20171029_hg19=,Long_QT_syndrome|Sick_sinus_syndrome|Paroxysmal_familial_ventricular_fibrillation|Brugada_syndrome|Romano-Ward_syndrome|not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|not_provided;CLNHGVS_clinvar_20171029_hg19=,NC_000003.11:g.38645420T>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNSIGINCL_clinvar_20171029_hg19=,440849:Pathogenic;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:32066|OMIM_Allelic_Variant:600163.0031|UniProtKB_(protein):Q14524#VAR_008955;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000335.4:c.1673A>G|_NM_001099404.1:c.1673A>G|_NM_001099405.1:c.1673A>G|_NM_001160160.1:c.1673A>G|_NM_001160161.1:c.1673A>G|_NM_198056.2:c.1673A>G;Coding_region_change_in_longest_transcript=,NM_198056.2:c.1673A>G;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq;Forward_read_coverage=,151;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,SCN5A:6331;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:6331;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:6331;Genotype=,C/C;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:10593;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:10593;Homo_sapiens_refseq_GRCh37.p13_Genes=,SCN5A;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001099405.1|NM_000335.4|NM_198056.2|NM_001099404.1|NM_001160161.1|NM_001160160.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene7232;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna10860|rna10858|rna10859|rna10861|rna10856|rna10857;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:600163;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:600163;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;OM_dbsnp_common_v150_hg19_refseq=,OM;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene7232;QUAL=,154.7746851547134;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,38645420;RS_dbsnp_common_v150_hg19_refseq=,1805124;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,238;Read_coverage=,238;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001099405.1|NM_000335.4|NM_198056.2|NM_001099404.1|NM_001160161.1|NM_001160160.1;Reverse_read_coverage=,87;SAO_dbsnp_common_v150_hg19_refseq=,1;SF=0,2,5,6,9,10,11,13,14,16,19,21,22,27,31,33,35,36,39;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.730716|0.269284;TPA_dbsnp_common_v150_hg19_refseq=,TPA;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050178000a05170537110101;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.992;db_xref=,GeneID:6331|HGNC:HGNC:10593|MIM:600163;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001099405.1|Genbank:NM_000335.4|Genbank:NM_198056.2|Genbank:NM_001099404.1|Genbank:NM_001160161.1|Genbank:NM_001160160.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,sodium_voltage-gated_channel_alpha_subunit_5;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SCN5A;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SCN5A;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CDCD2|CMD1E|CMPD2|HB1|HB2|HBBD|HH1|ICCD|IVF|LQT3|Nav1.5|PFHB1|SSS1|VF1;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,sodium_voltage-gated_channel_alpha_subunit_5|_transcript_variant_4|sodium_voltage-gated_channel_alpha_subunit_5|_transcript_variant_2|sodium_voltage-gated_channel_alpha_subunit_5|_transcript_variant_1|sodium_voltage-gated_channel_alpha_subunit_5|_transcript_variant_3|sodium_voltage-gated_channel_alpha_subunit_5|_transcript_variant_6|sodium_voltage-gated_channel_alpha_subunit_5|_transcript_variant_5;transcript_id=,NM_001099405.1|NM_000335.4|NM_198056.2|NM_001099404.1|NM_001160161.1|NM_001160160.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN5A:NM_000335:exon12:c.A1673G:p.H558R,SCN5A:NM_001099404:exon12:c.A1673G:p.H558R,SCN5A:NM_001099405:exon12:c.A1673G:p.H558R,SCN5A:NM_001160160:exon12:c.A1673G:p.H558R,SCN5A:NM_001160161:exon12:c.A1673G:p.H558R,SCN5A:NM_198056:exon12:c.A1673G:p.H558R;cytoBand=3p22.2;genomicSuperDups=.;esp6500siv2_all=0.2463;esp6500siv2_ea=0.2321;esp6500siv2_all=0.2463;esp6500siv2_ea=0.2321;1000g2015aug_all=0.230431;avsnp147=rs1805124;Kaviar_AF=0.219577;Kaviar_AC=33947;Kaviar_AN=154602;ExAC_ALL=0.2217;ExAC_AFR=0.2880;ExAC_AMR=0.2139;ExAC_EAS=0.0993;ExAC_FIN=0.2024;ExAC_NFE=0.2246;ExAC_OTH=0.2152;ExAC_SAS=0.2483;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.009;LRT_pred=N;MutationTaster_score=0.998;MutationTaster_pred=P;MutationAssessor_score=-2.085;MutationAssessor_pred=N;FATHMM_score=-3.39;FATHMM_pred=D;PROVEAN_score=3.92;PROVEAN_pred=N;VEST3_score=0.29;CADD_raw=-1.102;CADD_phred=0.010;DANN_score=0.286;fathmm-MKL_coding_score=0.024;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.924;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.615;integrated_confidence_value=0;GERP++_RS=2.44;phyloP7way_vertebrate=-0.763;phyloP20way_mammalian=-1.897;phastCons7way_vertebrate=0.961;phastCons20way_mammalian=0.751;SiPhy_29way_logOdds=15.575;GDI_full_10282015=.;dpsi_max_tissue=0.7396;dpsi_zscore=1.342;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM031355#"Phenotype_modifier_association_with";gnomAD_exome_ALL=0.2208;gnomAD_exome_AFR=0.2930;gnomAD_exome_AMR=0.2163;gnomAD_exome_ASJ=0.2005;gnomAD_exome_EAS=0.0940;gnomAD_exome_FIN=0.2006;gnomAD_exome_NFE=0.2301;gnomAD_exome_OTH=0.2274;gnomAD_exome_SAS=0.2473;gnomAD_genome_ALL=0.2453;gnomAD_genome_AFR=0.2934;gnomAD_genome_AMR=0.2315;gnomAD_genome_ASJ=0.2152;gnomAD_genome_EAS=0.1072;gnomAD_genome_FIN=0.2009;gnomAD_genome_NFE=0.2467;gnomAD_genome_OTH=0.2051;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1/1:194:0,194 . 1/1:190:0,190 . . 1:234:0,101 1:164:0,77 . . 1/1:191:0,190 1:239:0,117 1:228:0,101 . 1:222:0,111 1:321:0,166 . 1:235:0,113 . . 1:203:0,106 . 1:278:0,138 1:326:0,202 . . . . 1:280:0,137 . . . 1:180:0,86 . 1:188:0,98 . 1/1:206:0,206 1:174:0,80 . . 1:282:0,149 . . 3 38645506 48287;rs45624133 A G 200.00 . #_unique_end_positions=,79;#_unique_start_positions=,70;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0060;AF_EXAC_clinvar_20171029_hg19=,0.00657;AF_TGP_clinvar_20171029_hg19=,0.0020;ALLELEID_clinvar_20171029_hg19=,57451;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0086;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.07;CAF_dbsnp_common_v150_hg19_refseq=,0.998|0.001997;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1142166|Orphanet:ORPHA130|SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736;CLNDN_clinvar_20171029_hg19=,Brugada_syndrome|not_specified|Cardiovascular_phenotype;CLNHGVS_clinvar_20171029_hg19=,NC_000003.11:g.38645506A>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000335.4:c.1587T>C|_NM_001099404.1:c.1587T>C|_NM_001099405.1:c.1587T>C|_NM_001160160.1:c.1587T>C|_NM_001160161.1:c.1587T>C|_NM_198056.2:c.1587T>C;Coding_region_change_in_longest_transcript=,NM_001099404.1:c.1587T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0040;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,106;GENEINFO_dbsnp_common_v150_hg19_refseq=,SCN5A:6331;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:6331;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:6331;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:10593;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:10593;Homo_sapiens_refseq_GRCh37.p13_Genes=,SCN5A;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001099405.1|NM_000335.4|NM_198056.2|NM_001099404.1|NM_001160161.1|NM_001160160.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene7232;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna10860|rna10858|rna10859|rna10861|rna10856|rna10857;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:600163;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:600163;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene7232;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,38645506;RS_dbsnp_common_v150_hg19_refseq=,45624133;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,164;Read_coverage=,282;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9985327599555626;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001099405.1|NM_000335.4|NM_198056.2|NM_001099404.1|NM_001160161.1|NM_001160160.1;Reverse_read_coverage=,176;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=29;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.996016|0.00398379;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050028000305040136000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.997;db_xref=,GeneID:6331|HGNC:HGNC:10593|MIM:600163;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001099405.1|Genbank:NM_000335.4|Genbank:NM_198056.2|Genbank:NM_001099404.1|Genbank:NM_001160161.1|Genbank:NM_001160160.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,sodium_voltage-gated_channel_alpha_subunit_5;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SCN5A;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SCN5A;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CDCD2|CMD1E|CMPD2|HB1|HB2|HBBD|HH1|ICCD|IVF|LQT3|Nav1.5|PFHB1|SSS1|VF1;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,sodium_voltage-gated_channel_alpha_subunit_5|_transcript_variant_4|sodium_voltage-gated_channel_alpha_subunit_5|_transcript_variant_2|sodium_voltage-gated_channel_alpha_subunit_5|_transcript_variant_1|sodium_voltage-gated_channel_alpha_subunit_5|_transcript_variant_3|sodium_voltage-gated_channel_alpha_subunit_5|_transcript_variant_6|sodium_voltage-gated_channel_alpha_subunit_5|_transcript_variant_5;transcript_id=,NM_001099405.1|NM_000335.4|NM_198056.2|NM_001099404.1|NM_001160161.1|NM_001160160.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN5A:NM_000335:exon12:c.T1587C:p.I529I,SCN5A:NM_001099404:exon12:c.T1587C:p.I529I,SCN5A:NM_001099405:exon12:c.T1587C:p.I529I,SCN5A:NM_001160160:exon12:c.T1587C:p.I529I,SCN5A:NM_001160161:exon12:c.T1587C:p.I529I,SCN5A:NM_198056:exon12:c.T1587C:p.I529I;cytoBand=3p22.2;genomicSuperDups=.;esp6500siv2_all=0.0060;esp6500siv2_ea=0.0081;esp6500siv2_all=0.0060;esp6500siv2_ea=0.0081;1000g2015aug_all=0.00199681;avsnp147=rs45624133;Kaviar_AF=0.0054268;Kaviar_AC=839;Kaviar_AN=154602;ExAC_ALL=0.0066;ExAC_AFR=0.0018;ExAC_AMR=0.0065;ExAC_EAS=0.0001;ExAC_FIN=0.0151;ExAC_NFE=0.0085;ExAC_OTH=0.0125;ExAC_SAS=0.0012;CLNALLELEID=57451;CLNDN=Brugada_syndrome|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.3737;dpsi_zscore=1.720;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0056;gnomAD_exome_AFR=0.0013;gnomAD_exome_AMR=0.0060;gnomAD_exome_ASJ=0.0026;gnomAD_exome_EAS=5.835e-05;gnomAD_exome_FIN=0.0113;gnomAD_exome_NFE=0.0073;gnomAD_exome_OTH=0.0070;gnomAD_exome_SAS=0.0012;gnomAD_genome_ALL=0.0050;gnomAD_genome_AFR=0.0015;gnomAD_genome_AMR=0.0048;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0106;gnomAD_genome_NFE=0.0062;gnomAD_genome_OTH=0.0061;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:252:0,147 . . . . . . . . . . . . 3 38674699 48279;rs6791924 G A 200.00 . #_unique_end_positions=,35;#_unique_start_positions=,33;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1301;AF_ESP_clinvar_20171029_hg19=,0.0296;AF_EXAC_clinvar_20171029_hg19=,0.00946;AF_TGP_clinvar_20171029_hg19=,0.0371;ALLELEID_clinvar_20171029_hg19=,57443;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0144;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001153632.1:p.Arg34Cys|_NP_932173.1:p.Arg34Cys|_NP_001092874.1:p.Arg34Cys|_NP_001092875.1:p.Arg34Cys|_NP_001153633.1:p.Arg34Cys|_NP_000326.2:p.Arg34Cys;Amino_acid_change_in_longest_transcript=,NP_932173.1:p.Arg34Cys;BaseQRankSum=,-0.17;CAF_dbsnp_common_v150_hg19_refseq=,0.9629|0.03714;CLNDISDB_clinvar_20171029_hg19=,MeSH:D008133|MedGen:C0023976|SNOMED_CT:9651007|MedGen:C0037052|Orphanet:ORPHA166282|SNOMED_CT:36083008|MedGen:C0340493|Orphanet:ORPHA228140|SNOMED_CT:233915000|MedGen:C1142166|Orphanet:ORPHA130|SNOMED_CT:418818005|MedGen:CN119492|SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN206278|Orphanet:ORPHA871|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202;CLNDN_clinvar_20171029_hg19=,Long_QT_syndrome|Sick_sinus_syndrome|Paroxysmal_familial_ventricular_fibrillation|Brugada_syndrome|Romano-Ward_syndrome|not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|not_provided;CLNHGVS_clinvar_20171029_hg19=,NC_000003.11:g.38674699G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:76733|UniProtKB_(protein):Q14524#VAR_026342;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000335.4:c.100C>T|_NM_001099404.1:c.100C>T|_NM_001099405.1:c.100C>T|_NM_001160160.1:c.100C>T|_NM_001160161.1:c.100C>T|_NM_198056.2:c.100C>T;Coding_region_change_in_longest_transcript=,NM_198056.2:c.100C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0040;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,42;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,SCN5A:6331;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:6331;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:6331;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:10593;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:10593;Homo_sapiens_refseq_GRCh37.p13_Genes=,SCN5A;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001099405.1|NM_000335.4|NM_198056.2|NM_001099404.1|NM_001160161.1|NM_001160160.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene7232;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna10860|rna10858|rna10859|rna10861|rna10856|rna10857;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:600163;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:600163;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene7232;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,38674699;RS_dbsnp_common_v150_hg19_refseq=,6791924;Read_count=,52;Read_coverage=,100;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9752003705935397;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001099405.1|NM_000335.4|NM_198056.2|NM_001099404.1|NM_001160161.1|NM_001160160.1;Reverse_read_coverage=,58;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=37;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.957243|0.0427571;TPA_dbsnp_common_v150_hg19_refseq=,TPA;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050178000a05150537100100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.059322;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.987;db_xref=,GeneID:6331|HGNC:HGNC:10593|MIM:600163;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001099405.1|Genbank:NM_000335.4|Genbank:NM_198056.2|Genbank:NM_001099404.1|Genbank:NM_001160161.1|Genbank:NM_001160160.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,sodium_voltage-gated_channel_alpha_subunit_5;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SCN5A;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SCN5A;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CDCD2|CMD1E|CMPD2|HB1|HB2|HBBD|HH1|ICCD|IVF|LQT3|Nav1.5|PFHB1|SSS1|VF1;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,sodium_voltage-gated_channel_alpha_subunit_5|_transcript_variant_4|sodium_voltage-gated_channel_alpha_subunit_5|_transcript_variant_2|sodium_voltage-gated_channel_alpha_subunit_5|_transcript_variant_1|sodium_voltage-gated_channel_alpha_subunit_5|_transcript_variant_3|sodium_voltage-gated_channel_alpha_subunit_5|_transcript_variant_6|sodium_voltage-gated_channel_alpha_subunit_5|_transcript_variant_5;transcript_id=,NM_001099405.1|NM_000335.4|NM_198056.2|NM_001099404.1|NM_001160161.1|NM_001160160.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN5A:NM_000335:exon2:c.C100T:p.R34C,SCN5A:NM_001099404:exon2:c.C100T:p.R34C,SCN5A:NM_001099405:exon2:c.C100T:p.R34C,SCN5A:NM_001160160:exon2:c.C100T:p.R34C,SCN5A:NM_001160161:exon2:c.C100T:p.R34C,SCN5A:NM_198056:exon2:c.C100T:p.R34C;cytoBand=3p22.2;genomicSuperDups=.;esp6500siv2_all=0.0296;esp6500siv2_ea=0.0013;esp6500siv2_all=0.0296;esp6500siv2_ea=0.0013;1000g2015aug_all=0.0371406;avsnp147=rs6791924;Kaviar_AF=0.0092948;Kaviar_AC=1437;Kaviar_AN=154602;ExAC_ALL=0.0095;ExAC_AFR=0.0997;ExAC_AMR=0.0066;ExAC_EAS=0;ExAC_FIN=0.0002;ExAC_NFE=0.0012;ExAC_OTH=0.0091;ExAC_SAS=0.0003;CLNALLELEID=57443;CLNDN=Long_QT_syndrome|Sick_sinus_syndrome|Paroxysmal_familial_ventricular_fibrillation|Brugada_syndrome|Romano-Ward_syndrome|not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0037052,Orphanet:ORPHA166282,SNOMED_CT:36083008|MedGen:C0340493,Orphanet:ORPHA228140,SNOMED_CT:233915000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN206278,Orphanet:ORPHA871|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=0.997;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.685;Polyphen2_HVAR_pred=P;LRT_score=0.001;LRT_pred=D;MutationTaster_score=0.999;MutationTaster_pred=D;MutationAssessor_score=2.605;MutationAssessor_pred=M;FATHMM_score=-1.66;FATHMM_pred=D;PROVEAN_score=-3.7;PROVEAN_pred=D;VEST3_score=0.596;CADD_raw=5.725;CADD_phred=26.9;DANN_score=0.998;fathmm-MKL_coding_score=0.824;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.654;MetaSVM_pred=T;MetaLR_score=0.048;MetaLR_pred=T;integrated_fitCons_score=0.615;integrated_confidence_value=0;GERP++_RS=4.55;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.985;phastCons7way_vertebrate=0.815;phastCons20way_mammalian=0.575;SiPhy_29way_logOdds=10.612;GDI_full_10282015=.;dpsi_max_tissue=0.1206;dpsi_zscore=0.543;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM148752#"Focal_epilepsy";gnomAD_exome_ALL=0.0082;gnomAD_exome_AFR=0.1009;gnomAD_exome_AMR=0.0071;gnomAD_exome_ASJ=0.0021;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0001;gnomAD_exome_NFE=0.0014;gnomAD_exome_OTH=0.0075;gnomAD_exome_SAS=0.0004;gnomAD_genome_ALL=0.0290;gnomAD_genome_AFR=0.0986;gnomAD_genome_AMR=0.0048;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0014;gnomAD_genome_OTH=0.0112;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-3 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:88:0,48 . . . . 3 38674712 48318;rs6599230 T C 195.77 . #_unique_end_positions=,69;#_unique_start_positions=,71;AC=66;ALLELEID_clinvar_20171029_hg19=,57481;AN=66;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.3;CAF_dbsnp_common_v150_hg19_refseq=,0.2183|0.7817;CLNDISDB_clinvar_20171029_hg19=,MeSH:D008133|MedGen:C0023976|SNOMED_CT:9651007|MedGen:C0037052|Orphanet:ORPHA166282|SNOMED_CT:36083008|MedGen:C0340493|Orphanet:ORPHA228140|SNOMED_CT:233915000|MedGen:C1142166|Orphanet:ORPHA130|SNOMED_CT:418818005|MedGen:CN119492|SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN206278|Orphanet:ORPHA871|MedGen:CN230736|MedGen:CN239310;CLNDN_clinvar_20171029_hg19=,Long_QT_syndrome|Sick_sinus_syndrome|Paroxysmal_familial_ventricular_fibrillation|Brugada_syndrome|Romano-Ward_syndrome|not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant;CLNHGVS_clinvar_20171029_hg19=,NC_000003.11:g.38674712T>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:32091;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000335.4:c.87A>G|_NM_001099404.1:c.87A>G|_NM_001099405.1:c.87A>G|_NM_001160160.1:c.87A>G|_NM_001160161.1:c.87A>G|_NM_198056.2:c.87A>G;Coding_region_change_in_longest_transcript=,NM_198056.2:c.87A>G;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq;Forward_read_coverage=,66;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,SCN5A:6331;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:6331;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:6331;Genotype=,C/C;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:10593;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:10593;Homo_sapiens_refseq_GRCh37.p13_Genes=,SCN5A;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001099405.1|NM_000335.4|NM_198056.2|NM_001099404.1|NM_001160161.1|NM_001160160.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene7232;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna10860|rna10858|rna10859|rna10861|rna10856|rna10857;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:600163;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:600163;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene7232;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,38674712;RS_dbsnp_common_v150_hg19_refseq=,6599230;Read_count=,143;Read_coverage=,143;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001099405.1|NM_000335.4|NM_198056.2|NM_001099404.1|NM_001160161.1|NM_001160160.1;Reverse_read_coverage=,77;SAO_dbsnp_common_v150_hg19_refseq=,0;SF=0,1,2,3,4,5,6,7,8,9,10,11,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,30,31,33,34,35,36,37,38,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.159249|0.840751;TPA_dbsnp_common_v150_hg19_refseq=,TPA;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05013800030517053e000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.105;db_xref=,GeneID:6331|HGNC:HGNC:10593|MIM:600163;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001099405.1|Genbank:NM_000335.4|Genbank:NM_198056.2|Genbank:NM_001099404.1|Genbank:NM_001160161.1|Genbank:NM_001160160.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,sodium_voltage-gated_channel_alpha_subunit_5;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SCN5A;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SCN5A;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CDCD2|CMD1E|CMPD2|HB1|HB2|HBBD|HH1|ICCD|IVF|LQT3|Nav1.5|PFHB1|SSS1|VF1;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,sodium_voltage-gated_channel_alpha_subunit_5|_transcript_variant_4|sodium_voltage-gated_channel_alpha_subunit_5|_transcript_variant_2|sodium_voltage-gated_channel_alpha_subunit_5|_transcript_variant_1|sodium_voltage-gated_channel_alpha_subunit_5|_transcript_variant_3|sodium_voltage-gated_channel_alpha_subunit_5|_transcript_variant_6|sodium_voltage-gated_channel_alpha_subunit_5|_transcript_variant_5;transcript_id=,NM_001099405.1|NM_000335.4|NM_198056.2|NM_001099404.1|NM_001160161.1|NM_001160160.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN5A:NM_000335:exon2:c.A87G:p.A29A,SCN5A:NM_001099404:exon2:c.A87G:p.A29A,SCN5A:NM_001099405:exon2:c.A87G:p.A29A,SCN5A:NM_001160160:exon2:c.A87G:p.A29A,SCN5A:NM_001160161:exon2:c.A87G:p.A29A,SCN5A:NM_198056:exon2:c.A87G:p.A29A;cytoBand=3p22.2;genomicSuperDups=.;esp6500siv2_all=0.8360;esp6500siv2_ea=0.8072;esp6500siv2_all=0.8360;esp6500siv2_ea=0.8072;1000g2015aug_all=0.781749;avsnp147=rs6599230;Kaviar_AF=0.763852;Kaviar_AC=118093;Kaviar_AN=154602;ExAC_ALL=0.7737;ExAC_AFR=0.8941;ExAC_AMR=0.7194;ExAC_EAS=0.6902;ExAC_FIN=0.6934;ExAC_NFE=0.7906;ExAC_OTH=0.7517;ExAC_SAS=0.7485;CLNALLELEID=57481;CLNDN=Long_QT_syndrome|Sick_sinus_syndrome|Paroxysmal_familial_ventricular_fibrillation|Brugada_syndrome|Romano-Ward_syndrome|not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0037052,Orphanet:ORPHA166282,SNOMED_CT:36083008|MedGen:C0340493,Orphanet:ORPHA228140,SNOMED_CT:233915000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN206278,Orphanet:ORPHA871|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1612;dpsi_zscore=0.642;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.7655;gnomAD_exome_AFR=0.8977;gnomAD_exome_AMR=0.7155;gnomAD_exome_ASJ=0.7483;gnomAD_exome_EAS=0.6899;gnomAD_exome_FIN=0.6952;gnomAD_exome_NFE=0.7949;gnomAD_exome_OTH=0.7468;gnomAD_exome_SAS=0.7495;gnomAD_genome_ALL=0.7947;gnomAD_genome_AFR=0.8943;gnomAD_genome_AMR=0.7255;gnomAD_genome_ASJ=0.7417;gnomAD_genome_EAS=0.7012;gnomAD_genome_FIN=0.6997;gnomAD_genome_NFE=0.7774;gnomAD_genome_OTH=0.7398;Whole_Blood=Whole_Blood::0.178862::-0.446413;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 1/1:119:0,119 1:129:0,63 1/1:143:0,143 1:122:0,60 1/1:100:0,100 1:137:0,66 1/1:96:0,96 1/1:121:0,121 1/1:122:0,122 1/1:124:0,124 1/1:148:0,148 1/1:124:0,124 . 1:159:0,85 1/1:173:0,173 1/1:125:0,125 1/1:181:0,181 1:135:0,64 1/1:115:0,114 1/1:114:0,114 1:120:0,57 1/1:119:0,119 1/1:174:0,174 1:185:0,91 1/1:143:0,143 1:118:0,54 1/1:125:0,124 1/1:178:0,178 1/1:161:0,161 . 1/1:130:0,130 1/1:89:0,89 . 1/1:111:0,111 1/1:145:0,145 1/1:116:0,116 1:117:0,65 1:85:0,45 1:117:0,69 1/1:141:0,141 1:139:0,67 1/1:111:0,111 3 38739574 259999;rs6599241 T C 180.97 . #_unique_end_positions=,65;#_unique_start_positions=,44;AC=84;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,1.0000;ALLELEID_clinvar_20171029_hg19=,251110;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,1.0000;AN=84;Amino_acid_change=,NP_006505.3:p.Met1713Val|_NP_001280235.2:p.Met1712Val|_NP_001280236.2:p.Met1615Val;Amino_acid_change_in_longest_transcript=,NP_006505.3:p.Met1713Val;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000003.11:g.38739574T>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;Coding_region_change=,NM_001293306.2:c.5134A>G|_NM_001293307.2:c.4843A>G|_NM_006514.3:c.5137A>G;Coding_region_change_in_longest_transcript=,NM_006514.3:c.5137A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,1.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,1.0000;Exact_match=,clinvar_20171029_hg19|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,67;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:6336;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:6336;Genotype=,C/C;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:10582;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:10582;Homo_sapiens_refseq_GRCh37.p13_Genes=,SCN10A;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001293307.2|NM_001293306.2|NM_006514.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene7233;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna10862|rna10863|rna10864;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:604427;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:604427;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene7233;QUAL=,200.0;Read_count=,127;Read_coverage=,129;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001293307.2|NM_001293306.2|NM_006514.3;Reverse_read_coverage=,62;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,1.0000;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,1;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,1;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.988372;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,1;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.994444;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.99;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,1;conservation_score=,1.0;db_xref=,GeneID:6336|HGNC:HGNC:10582|MIM:604427;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001293307.2|Genbank:NM_001293306.2|Genbank:NM_006514.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,sodium_voltage-gated_channel_alpha_subunit_10;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SCN10A;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SCN10A;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,FEPS2|hPN3|Nav1.8|PN3|SNS;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,sodium_voltage-gated_channel_alpha_subunit_10|_transcript_variant_3|sodium_voltage-gated_channel_alpha_subunit_10|_transcript_variant_2|sodium_voltage-gated_channel_alpha_subunit_10|_transcript_variant_1;transcript_id=,NM_001293307.2|NM_001293306.2|NM_006514.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN10A:NM_001293307:exon26:c.A4843G:p.M1615V,SCN10A:NM_001293306:exon27:c.A5134G:p.M1712V,SCN10A:NM_006514:exon27:c.A5137G:p.M1713V;cytoBand=3p22.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=1;avsnp147=rs6599241;Kaviar_AF=0.938267;Kaviar_AC=145058;Kaviar_AN=154602;ExAC_ALL=1;ExAC_AFR=1;ExAC_AMR=1;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=1;ExAC_OTH=1;ExAC_SAS=1;CLNALLELEID=251110;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=0.986;MutationTaster_pred=P;MutationAssessor_score=-2.045;MutationAssessor_pred=N;FATHMM_score=-4.81;FATHMM_pred=D;PROVEAN_score=2.78;PROVEAN_pred=N;VEST3_score=0.309;CADD_raw=0.227;CADD_phred=4.957;DANN_score=0.457;fathmm-MKL_coding_score=0.235;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.898;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=5.38;phyloP7way_vertebrate=0.002;phyloP20way_mammalian=0.069;phastCons7way_vertebrate=0.999;phastCons20way_mammalian=0.999;SiPhy_29way_logOdds=14.472;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=1.0000;gnomAD_exome_AFR=1;gnomAD_exome_AMR=1;gnomAD_exome_ASJ=0.9999;gnomAD_exome_EAS=1;gnomAD_exome_FIN=1;gnomAD_exome_NFE=1;gnomAD_exome_OTH=1;gnomAD_exome_SAS=1;gnomAD_genome_ALL=1;gnomAD_genome_AFR=1;gnomAD_genome_AMR=1;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=1;gnomAD_genome_FIN=1;gnomAD_genome_NFE=1;gnomAD_genome_OTH=1;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1/1:107:0,106 1/1:185:0,185 1/1:158:0,157 1/1:164:0,164 1/1:108:0,108 1/1:153:0,153 1/1:129:0,129 1/1:173:0,173 1/1:197:0,197 1/1:167:0,167 1/1:209:0,209 1/1:153:0,153 1/1:177:0,177 1/1:166:0,166 1/1:256:0,256 1/1:179:0,179 1/1:165:0,165 1/1:188:0,188 1/1:125:0,125 1/1:152:0,152 1/1:158:0,158 1/1:215:0,215 1/1:230:0,230 1/1:237:0,237 1/1:205:0,205 1/1:137:0,137 1/1:165:0,165 1/1:202:0,202 1/1:204:0,204 1/1:181:0,181 1/1:194:0,194 1/1:115:0,115 1/1:163:0,163 1/1:131:0,131 1/1:171:0,171 1/1:164:0,164 1/1:135:0,135 1/1:135:0,135 1/1:126:0,126 1/1:202:0,202 1/1:178:0,177 1/1:138:0,138 3 38739622 240679;rs77804526 C T 200.00 . #_unique_end_positions=,55;#_unique_start_positions=,41;AC=2;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0101;AF_EXAC_clinvar_20171029_hg19=,0.01232;AF_TGP_clinvar_20171029_hg19=,0.0064;ALLELEID_clinvar_20171029_hg19=,239217;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0029;AN=2;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001280235.2:p.Val1696Ile|_NP_001280236.2:p.Val1599Ile|_NP_006505.3:p.Val1697Ile;Amino_acid_change_in_longest_transcript=,NP_006505.3:p.Val1697Ile;BaseQRankSum=,-0.62;CAF_dbsnp_common_v150_hg19_refseq=,0.9936|0.00639;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1142166|Orphanet:ORPHA130|SNOMED_CT:418818005|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Brugada_syndrome|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000003.11:g.38739622C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001293306.2:c.5086G>A|_NM_001293307.2:c.4795G>A|_NM_006514.3:c.5089G>A;Coding_region_change_in_longest_transcript=,NM_006514.3:c.5089G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0109;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,95;GENEINFO_dbsnp_common_v150_hg19_refseq=,SCN10A:6336;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:6336;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:6336;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:10582;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:10582;Homo_sapiens_refseq_GRCh37.p13_Genes=,SCN10A;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001293307.2|NM_001293306.2|NM_006514.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene7233;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna10862|rna10863|rna10864;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:604427;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:604427;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene7233;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,38739622;RS_dbsnp_common_v150_hg19_refseq=,77804526;Read_count=,92;Read_coverage=,167;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9951137261538358;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001293307.2|NM_001293306.2|NM_006514.3;Reverse_read_coverage=,72;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0184;SF=0,32;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.992651|0.00734941;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050100000a05040436000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.138;db_xref=,GeneID:6336|HGNC:HGNC:10582|MIM:604427;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001293307.2|Genbank:NM_001293306.2|Genbank:NM_006514.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,sodium_voltage-gated_channel_alpha_subunit_10;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SCN10A;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SCN10A;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,FEPS2|hPN3|Nav1.8|PN3|SNS;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,sodium_voltage-gated_channel_alpha_subunit_10|_transcript_variant_3|sodium_voltage-gated_channel_alpha_subunit_10|_transcript_variant_2|sodium_voltage-gated_channel_alpha_subunit_10|_transcript_variant_1;transcript_id=,NM_001293307.2|NM_001293306.2|NM_006514.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN10A:NM_001293307:exon26:c.G4795A:p.V1599I,SCN10A:NM_001293306:exon27:c.G5086A:p.V1696I,SCN10A:NM_006514:exon27:c.G5089A:p.V1697I;cytoBand=3p22.2;genomicSuperDups=.;esp6500siv2_all=0.0101;esp6500siv2_ea=0.0137;esp6500siv2_all=0.0101;esp6500siv2_ea=0.0137;1000g2015aug_all=0.00638978;avsnp147=rs77804526;Kaviar_AF=0.0119468;Kaviar_AC=1847;Kaviar_AN=154602;ExAC_ALL=0.0123;ExAC_AFR=0.0021;ExAC_AMR=0.0048;ExAC_EAS=0.0001;ExAC_FIN=0.0050;ExAC_NFE=0.0144;ExAC_OTH=0.0231;ExAC_SAS=0.0243;CLNALLELEID=239217;CLNDN=Brugada_syndrome|not_specified;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.245;SIFT_pred=T;Polyphen2_HDIV_score=0.024;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.007;Polyphen2_HVAR_pred=B;LRT_score=0.009;LRT_pred=N;MutationTaster_score=0.998;MutationTaster_pred=N;MutationAssessor_score=-0.23;MutationAssessor_pred=N;FATHMM_score=-4.9;FATHMM_pred=D;PROVEAN_score=-0.74;PROVEAN_pred=N;VEST3_score=0.037;CADD_raw=0.274;CADD_phred=5.435;DANN_score=0.701;fathmm-MKL_coding_score=0.058;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.027;MetaSVM_pred=T;MetaLR_score=0.627;MetaLR_pred=D;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=0.236;phyloP7way_vertebrate=0.033;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.127;phastCons20way_mammalian=0.798;SiPhy_29way_logOdds=3.277;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM147576#"Brugada_syndrome";gnomAD_exome_ALL=0.0117;gnomAD_exome_AFR=0.0024;gnomAD_exome_AMR=0.0057;gnomAD_exome_ASJ=0.0204;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0.0048;gnomAD_exome_NFE=0.0139;gnomAD_exome_OTH=0.0086;gnomAD_exome_SAS=0.0242;gnomAD_genome_ALL=0.0083;gnomAD_genome_AFR=0.0029;gnomAD_genome_AMR=0.0048;gnomAD_genome_ASJ=0.0166;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0049;gnomAD_genome_NFE=0.0133;gnomAD_genome_OTH=0.0082;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:154:0,86 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:185:0,84 . . . . . . . . . 3 38739845 95404;rs6599242 A G 185.01 . #_unique_end_positions=,93;#_unique_start_positions=,80;AC=82;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9690;ALLELEID_clinvar_20171029_hg19=,101303;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9121;AN=82;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.16;CAF_dbsnp_common_v150_hg19_refseq=,0.07528|0.9247;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000003.11:g.38739845A>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001293306.2:c.4863T>C|_NM_001293307.2:c.4572T>C|_NM_006514.3:c.4866T>C;Coding_region_change_in_longest_transcript=,NM_006514.3:c.4866T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9514;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9125;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,69;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,SCN10A:6336;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:6336;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:6336;Genotype=,G/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:10582;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:10582;Homo_sapiens_refseq_GRCh37.p13_Genes=,SCN10A;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001293307.2|NM_001293306.2|NM_006514.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene7233;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna10862|rna10863|rna10864;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:604427;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:604427;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene7233;QUAL=,159.54589770191004;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,38739845;RS_dbsnp_common_v150_hg19_refseq=,6599242;Read_count=,214;Read_coverage=,214;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001293307.2|NM_001293306.2|NM_006514.3;Reverse_read_coverage=,145;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.8589;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.0637406|0.936259;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05012800030515053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.959184;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.927928;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.97561;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.964706;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.902299;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.976744;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.976744;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.95;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.88;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.933566;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.931818;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.977876;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:6336|HGNC:HGNC:10582|MIM:604427;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001293307.2|Genbank:NM_001293306.2|Genbank:NM_006514.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,sodium_voltage-gated_channel_alpha_subunit_10;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SCN10A;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SCN10A;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,FEPS2|hPN3|Nav1.8|PN3|SNS;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,sodium_voltage-gated_channel_alpha_subunit_10|_transcript_variant_3|sodium_voltage-gated_channel_alpha_subunit_10|_transcript_variant_2|sodium_voltage-gated_channel_alpha_subunit_10|_transcript_variant_1;transcript_id=,NM_001293307.2|NM_001293306.2|NM_006514.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN10A:NM_001293307:exon26:c.T4572C:p.S1524S,SCN10A:NM_001293306:exon27:c.T4863C:p.S1621S,SCN10A:NM_006514:exon27:c.T4866C:p.S1622S;cytoBand=3p22.2;genomicSuperDups=.;esp6500siv2_all=0.9305;esp6500siv2_ea=0.9151;esp6500siv2_all=0.9305;esp6500siv2_ea=0.9151;1000g2015aug_all=0.92472;avsnp147=rs6599242;Kaviar_AF=0.910105;Kaviar_AC=140704;Kaviar_AN=154602;ExAC_ALL=0.9199;ExAC_AFR=0.9606;ExAC_AMR=0.9185;ExAC_EAS=0.9703;ExAC_FIN=0.9342;ExAC_NFE=0.9180;ExAC_OTH=0.9306;ExAC_SAS=0.8703;CLNALLELEID=101303;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.9195;gnomAD_exome_AFR=0.9601;gnomAD_exome_AMR=0.9144;gnomAD_exome_ASJ=0.9422;gnomAD_exome_EAS=0.9700;gnomAD_exome_FIN=0.9335;gnomAD_exome_NFE=0.9162;gnomAD_exome_OTH=0.9211;gnomAD_exome_SAS=0.8712;gnomAD_genome_ALL=0.9325;gnomAD_genome_AFR=0.9633;gnomAD_genome_AMR=0.9091;gnomAD_genome_ASJ=0.9267;gnomAD_genome_EAS=0.9685;gnomAD_genome_FIN=0.9356;gnomAD_genome_NFE=0.9122;gnomAD_genome_OTH=0.9196;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1/1:194:0,194 1/1:250:0,250 1/1:210:0,210 1/1:239:0,239 1/1:175:0,175 1/1:257:0,257 1/1:141:0,141 1/1:210:0,210 1/1:245:0,245 1/1:205:0,205 1/1:254:0,254 1/1:244:0,244 1/1:270:0,270 1/1:247:0,247 1/1:322:0,322 1/1:237:0,237 1/1:262:0,262 1/1:231:0,231 1/1:177:0,177 1/1:190:0,190 1/1:189:0,189 1/1:274:0,274 1/1:309:0,309 1/1:301:0,300 1:279:0,125 1/1:190:0,190 1/1:205:0,205 1/1:248:0,248 1/1:298:0,298 1/1:238:0,238 1/1:248:0,248 1/1:146:0,146 1/1:239:0,239 1:162:0,73 1/1:278:0,278 1/1:233:0,233 1/1:208:0,208 1/1:182:0,182 1/1:214:0,214 1/1:274:0,274 1/1:230:0,230 1/1:190:0,190 3 38740001 95403;rs78425180 C T 200.00 . #_unique_end_positions=,37;#_unique_start_positions=,34;AC=2;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0106;AF_EXAC_clinvar_20171029_hg19=,0.03695;AF_TGP_clinvar_20171029_hg19=,0.0579;ALLELEID_clinvar_20171029_hg19=,101302;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0648;AN=2;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.28;CAF_dbsnp_common_v150_hg19_refseq=,0.9421|.|0.05791;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1142166|Orphanet:ORPHA130|SNOMED_CT:418818005|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Brugada_syndrome|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000003.11:g.38740001C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001293306.2:c.4707G>A|_NM_001293307.2:c.4416G>A|_NM_006514.3:c.4710G>A;Coding_region_change_in_longest_transcript=,NM_006514.3:c.4710G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2044;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0119;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,51;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,SCN10A:6336;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:6336;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:6336;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:10582;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:10582;Homo_sapiens_refseq_GRCh37.p13_Genes=,SCN10A;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001293307.2|NM_001293306.2|NM_006514.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene7233;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna10862|rna10863|rna10864;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:604427;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:604427;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene7233;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,38740001;RS_dbsnp_common_v150_hg19_refseq=,78425180;Read_count=,49;Read_coverage=,91;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9969913368951275;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001293307.2|NM_001293306.2|NM_006514.3;Reverse_read_coverage=,40;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0276;SF=0,32;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.98695|.|0.0130503;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050100000305150436000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.015;db_xref=,GeneID:6336|HGNC:HGNC:10582|MIM:604427;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001293307.2|Genbank:NM_001293306.2|Genbank:NM_006514.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,sodium_voltage-gated_channel_alpha_subunit_10;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SCN10A;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SCN10A;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,FEPS2|hPN3|Nav1.8|PN3|SNS;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,sodium_voltage-gated_channel_alpha_subunit_10|_transcript_variant_3|sodium_voltage-gated_channel_alpha_subunit_10|_transcript_variant_2|sodium_voltage-gated_channel_alpha_subunit_10|_transcript_variant_1;transcript_id=,NM_001293307.2|NM_001293306.2|NM_006514.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN10A:NM_001293307:exon26:c.G4416A:p.T1472T,SCN10A:NM_001293306:exon27:c.G4707A:p.T1569T,SCN10A:NM_006514:exon27:c.G4710A:p.T1570T;cytoBand=3p22.2;genomicSuperDups=.;esp6500siv2_all=0.0106;esp6500siv2_ea=0.0142;esp6500siv2_all=0.0106;esp6500siv2_ea=0.0142;1000g2015aug_all=0.0579073;avsnp147=rs78425180;Kaviar_AF=0.0356852;Kaviar_AC=5517;Kaviar_AN=154602;ExAC_ALL=0.0370;ExAC_AFR=0.0039;ExAC_AMR=0.0905;ExAC_EAS=0.2114;ExAC_FIN=0.0062;ExAC_NFE=0.0148;ExAC_OTH=0.0453;ExAC_SAS=0.0297;CLNALLELEID=101302;CLNDN=Brugada_syndrome|not_specified;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0388;gnomAD_exome_AFR=0.0033;gnomAD_exome_AMR=0.0862;gnomAD_exome_ASJ=0.0209;gnomAD_exome_EAS=0.2092;gnomAD_exome_FIN=0.0055;gnomAD_exome_NFE=0.0143;gnomAD_exome_OTH=0.0272;gnomAD_exome_SAS=0.0296;gnomAD_genome_ALL=0.0216;gnomAD_genome_AFR=0.0037;gnomAD_genome_AMR=0.0634;gnomAD_genome_ASJ=0.0166;gnomAD_genome_EAS=0.2065;gnomAD_genome_FIN=0.0060;gnomAD_genome_NFE=0.0139;gnomAD_genome_OTH=0.0122;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:81:0,46 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:103:0,47 . . . . . . . . . 3 38748833 380868;rs6790627 T C 200.00 . #_unique_end_positions=,48;#_unique_start_positions=,46;AC=18;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3578;ALLELEID_clinvar_20171029_hg19=,367531;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2104;AN=18;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.2;CAF_dbsnp_common_v150_hg19_refseq=,0.7576|0.2424;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000003.11:g.38748833T>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_single_submitter;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001293306.2:c.4320A>G|_NM_001293307.2:c.4029A>G|_NM_006514.3:c.4323A>G;Coding_region_change_in_longest_transcript=,NM_006514.3:c.4323A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3115;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1571;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,36;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,SCN10A:6336;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:6336;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:6336;Genotype=,C/C;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:10582;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:10582;Homo_sapiens_refseq_GRCh37.p13_Genes=,SCN10A;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001293307.2|NM_001293306.2|NM_006514.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene7233;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna10862|rna10863|rna10864;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:604427;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:604427;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene7233;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,38748833;RS_dbsnp_common_v150_hg19_refseq=,6790627;Read_count=,87;Read_coverage=,87;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001293307.2|NM_001293306.2|NM_006514.3;Reverse_read_coverage=,51;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1258;SF=0,3,5,7,11,12,15,19,20,24,27,28,30,32,36;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.762587|0.237413;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05010000030517053e000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.999;db_xref=,GeneID:6336|HGNC:HGNC:10582|MIM:604427;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001293307.2|Genbank:NM_001293306.2|Genbank:NM_006514.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,sodium_voltage-gated_channel_alpha_subunit_10;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SCN10A;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SCN10A;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,FEPS2|hPN3|Nav1.8|PN3|SNS;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,sodium_voltage-gated_channel_alpha_subunit_10|_transcript_variant_3|sodium_voltage-gated_channel_alpha_subunit_10|_transcript_variant_2|sodium_voltage-gated_channel_alpha_subunit_10|_transcript_variant_1;transcript_id=,NM_001293307.2|NM_001293306.2|NM_006514.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN10A:NM_001293307:exon24:c.A4029G:p.K1343K,SCN10A:NM_001293306:exon25:c.A4320G:p.K1440K,SCN10A:NM_006514:exon25:c.A4323G:p.K1441K;cytoBand=3p22.2;genomicSuperDups=.;esp6500siv2_all=0.2099;esp6500siv2_ea=0.1430;esp6500siv2_all=0.2099;esp6500siv2_ea=0.1430;1000g2015aug_all=0.242412;avsnp147=rs6790627;Kaviar_AF=0.174959;Kaviar_AC=27049;Kaviar_AN=154602;ExAC_ALL=0.1786;ExAC_AFR=0.3387;ExAC_AMR=0.2586;ExAC_EAS=0.3301;ExAC_FIN=0.0771;ExAC_NFE=0.1396;ExAC_OTH=0.1589;ExAC_SAS=0.1418;CLNALLELEID=367531;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.5344;dpsi_zscore=1.166;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1779;gnomAD_exome_AFR=0.3405;gnomAD_exome_AMR=0.2509;gnomAD_exome_ASJ=0.1622;gnomAD_exome_EAS=0.3307;gnomAD_exome_FIN=0.0856;gnomAD_exome_NFE=0.1404;gnomAD_exome_OTH=0.1745;gnomAD_exome_SAS=0.1403;gnomAD_genome_ALL=0.2000;gnomAD_genome_AFR=0.3336;gnomAD_genome_AMR=0.2160;gnomAD_genome_ASJ=0.1821;gnomAD_genome_EAS=0.3274;gnomAD_genome_FIN=0.0896;gnomAD_genome_NFE=0.1377;gnomAD_genome_OTH=0.1405;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1/1:70:0,70 . . 1:105:0,44 . 1:103:0,47 . 1:99:0,45 . . . 1/1:124:0,124 1:137:0,77 . . 1/1:119:0,119 . . . 1:103:0,54 1:88:0,50 . . . 1:140:0,70 . . 1:152:0,55 1:149:0,77 . 1:141:0,73 . 1:100:0,39 . . . 1:93:0,35 . . . . . 3 38753732 235224;rs11711062 A T 200.00 . #_unique_end_positions=,37;#_unique_start_positions=,32;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0045;AF_EXAC_clinvar_20171029_hg19=,0.00447;AF_TGP_clinvar_20171029_hg19=,0.0012;ALLELEID_clinvar_20171029_hg19=,236912;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0058;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001280236.2:p.Ser1239Thr|_NP_006505.3:p.Ser1337Thr|_NP_001280235.2:p.Ser1336Thr;Amino_acid_change_in_longest_transcript=,NP_006505.3:p.Ser1337Thr;BaseQRankSum=,-0.17;CAF_dbsnp_common_v150_hg19_refseq=,0.9988|0.001198;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1142166|Orphanet:ORPHA130|SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN517202;CLNDN_clinvar_20171029_hg19=,Brugada_syndrome|not_specified|not_provided;CLNHGVS_clinvar_20171029_hg19=,NC_000003.11:g.38753732A>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001293306.2:c.4006T>A|_NM_001293307.2:c.3715T>A|_NM_006514.3:c.4009T>A;Coding_region_change_in_longest_transcript=,NM_006514.3:c.4009T>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,54;GENEINFO_dbsnp_common_v150_hg19_refseq=,SCN10A:6336;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:6336;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:6336;Genotype=,A/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:10582;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:10582;Homo_sapiens_refseq_GRCh37.p13_Genes=,SCN10A;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001293307.2|NM_001293306.2|NM_006514.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene7233;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna10862|rna10863|rna10864;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:604427;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:604427;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene7233;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,38753732;RS_dbsnp_common_v150_hg19_refseq=,11711062;Read_count=,51;Read_coverage=,92;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9816644654446998;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001293307.2|NM_001293306.2|NM_006514.3;Reverse_read_coverage=,38;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;SF=0;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.996257|0.00374339;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128000a05040537000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.0;db_xref=,GeneID:6336|HGNC:HGNC:10582|MIM:604427;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001293307.2|Genbank:NM_001293306.2|Genbank:NM_006514.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,sodium_voltage-gated_channel_alpha_subunit_10;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SCN10A;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SCN10A;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,FEPS2|hPN3|Nav1.8|PN3|SNS;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,sodium_voltage-gated_channel_alpha_subunit_10|_transcript_variant_3|sodium_voltage-gated_channel_alpha_subunit_10|_transcript_variant_2|sodium_voltage-gated_channel_alpha_subunit_10|_transcript_variant_1;transcript_id=,NM_001293307.2|NM_001293306.2|NM_006514.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN10A:NM_001293307:exon21:c.T3715A:p.S1239T,SCN10A:NM_001293306:exon22:c.T4006A:p.S1336T,SCN10A:NM_006514:exon22:c.T4009A:p.S1337T;cytoBand=3p22.2;genomicSuperDups=.;esp6500siv2_all=0.0045;esp6500siv2_ea=0.0065;esp6500siv2_all=0.0045;esp6500siv2_ea=0.0065;1000g2015aug_all=0.00119808;avsnp147=rs11711062;Kaviar_AF=0.0044307;Kaviar_AC=685;Kaviar_AN=154602;ExAC_ALL=0.0045;ExAC_AFR=0.0007;ExAC_AMR=0.0047;ExAC_EAS=0.0001;ExAC_FIN=0.0008;ExAC_NFE=0.0066;ExAC_OTH=0.0044;ExAC_SAS=0.0021;CLNALLELEID=236912;CLNDN=Brugada_syndrome|not_specified|not_provided;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.574;SIFT_pred=T;Polyphen2_HDIV_score=0.059;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.05;Polyphen2_HVAR_pred=B;LRT_score=0.937;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0.46;MutationAssessor_pred=N;FATHMM_score=-3.75;FATHMM_pred=D;PROVEAN_score=-0.62;PROVEAN_pred=N;VEST3_score=0.123;CADD_raw=-1.271;CADD_phred=0.005;DANN_score=0.261;fathmm-MKL_coding_score=0.010;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.323;MetaSVM_pred=T;MetaLR_score=0.452;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=-9.34;phyloP7way_vertebrate=-1.240;phyloP20way_mammalian=-0.201;phastCons7way_vertebrate=0.001;phastCons20way_mammalian=0.081;SiPhy_29way_logOdds=1.160;GDI_full_10282015=.;dpsi_max_tissue=0.2671;dpsi_zscore=0.841;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM147574#"Brugada_syndrome";gnomAD_exome_ALL=0.0046;gnomAD_exome_AFR=0.0007;gnomAD_exome_AMR=0.0048;gnomAD_exome_ASJ=0.0021;gnomAD_exome_EAS=5.798e-05;gnomAD_exome_FIN=0.0009;gnomAD_exome_NFE=0.0072;gnomAD_exome_OTH=0.0082;gnomAD_exome_SAS=0.0023;gnomAD_genome_ALL=0.0033;gnomAD_genome_AFR=0.0007;gnomAD_genome_AMR=0.0048;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0020;gnomAD_genome_NFE=0.0053;gnomAD_genome_OTH=0.0061;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:DP:CLCAD2 1:85:0,47 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 3 38755500 . G T 200.00 . #_unique_end_positions=,27;#_unique_start_positions=,23;AC=1;AN=1;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.22;Coding_region_change=,NM_001293306.2:c.3750C>A|_NM_001293307.2:c.3459C>A|_NM_006514.3:c.3753C>A;Coding_region_change_in_longest_transcript=,NM_006514.3:c.3753C>A;Forward_read_coverage=,38;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:6336;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:6336;Genotype=,G/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:10582;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:10582;Homo_sapiens_refseq_GRCh37.p13_Genes=,SCN10A;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001293307.2|NM_001293306.2|NM_006514.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene7233;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna10862|rna10863|rna10864;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:604427;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:604427;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene7233;QUAL=,200.0;Read_count=,39;Read_coverage=,95;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.6771767538496674;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001293307.2|NM_001293306.2|NM_006514.3;Reverse_read_coverage=,57;SF=18;conservation_score=,0.988;db_xref=,GeneID:6336|HGNC:HGNC:10582|MIM:604427;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001293307.2|Genbank:NM_001293306.2|Genbank:NM_006514.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,sodium_voltage-gated_channel_alpha_subunit_10;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SCN10A;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SCN10A;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,FEPS2|hPN3|Nav1.8|PN3|SNS;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,sodium_voltage-gated_channel_alpha_subunit_10|_transcript_variant_3|sodium_voltage-gated_channel_alpha_subunit_10|_transcript_variant_2|sodium_voltage-gated_channel_alpha_subunit_10|_transcript_variant_1;transcript_id=,NM_001293307.2|NM_001293306.2|NM_006514.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN10A:NM_001293307:exon20:c.C3459A:p.T1153T,SCN10A:NM_001293306:exon21:c.C3750A:p.T1250T,SCN10A:NM_006514:exon21:c.C3753A:p.T1251T;cytoBand=3p22.2;genomicSuperDups=.;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0001;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0001;1000g2015aug_all=.;avsnp147=rs144350950;Kaviar_AF=0.0001358;Kaviar_AC=21;Kaviar_AN=154602;ExAC_ALL=0.0001;ExAC_AFR=0.0002;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0.0003;ExAC_NFE=0.0002;ExAC_OTH=0;ExAC_SAS=6.058e-05;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.4751;dpsi_zscore=-1.067;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0001;gnomAD_exome_AFR=0.0002;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=8.973e-05;gnomAD_exome_NFE=0.0002;gnomAD_exome_OTH=0;gnomAD_exome_SAS=3.249e-05;gnomAD_genome_ALL=9.687e-05;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=6.663e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . 1:84:0,35 . . . . . . . . . . . . . . . . . . . . . . . 3 38763863 259998;rs6771157 G C 193.88 . #_unique_end_positions=,69;#_unique_start_positions=,71;AC=20;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1210;AF_ESP_clinvar_20171029_hg19=,0.2202;AF_EXAC_clinvar_20171029_hg19=,0.24302;AF_TGP_clinvar_20171029_hg19=,0.2197;ALLELEID_clinvar_20171029_hg19=,251111;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1210;AN=20;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.13;CAF_dbsnp_common_v150_hg19_refseq=,0.7804|0.2196;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000003.11:g.38763863G>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001293306.2:c.3390C>G|_NM_001293307.2:c.3099C>G|_NM_006514.3:c.3393C>G;Coding_region_change_in_longest_transcript=,NM_006514.3:c.3393C>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3760;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2465;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,70;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,SCN10A:6336;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:6336;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:6336;Genotype=,C/C;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:10582;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:10582;Homo_sapiens_refseq_GRCh37.p13_Genes=,SCN10A;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001293307.2|NM_001293306.2|NM_006514.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene7233;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna10862|rna10863|rna10864;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:604427;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:604427;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene7233;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,38763863;RS_dbsnp_common_v150_hg19_refseq=,6771157;Read_count=,142;Read_coverage=,142;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001293307.2|NM_001293306.2|NM_006514.3;Reverse_read_coverage=,72;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2342;SF=1,9,14,15,16,17,20,23,26,34,37,38,39,40;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.801875|0.198125;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128000305170537000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.132653;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.247788;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.463415;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.4;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.255682;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.360465;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.412791;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.0833333;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.11;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.13986;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.261364;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.10177;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.005;db_xref=,GeneID:6336|HGNC:HGNC:10582|MIM:604427;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001293307.2|Genbank:NM_001293306.2|Genbank:NM_006514.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,sodium_voltage-gated_channel_alpha_subunit_10;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SCN10A;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SCN10A;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,FEPS2|hPN3|Nav1.8|PN3|SNS;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,sodium_voltage-gated_channel_alpha_subunit_10|_transcript_variant_3|sodium_voltage-gated_channel_alpha_subunit_10|_transcript_variant_2|sodium_voltage-gated_channel_alpha_subunit_10|_transcript_variant_1;transcript_id=,NM_001293307.2|NM_001293306.2|NM_006514.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN10A:NM_001293307:exon18:c.C3099G:p.T1033T,SCN10A:NM_001293306:exon19:c.C3390G:p.T1130T,SCN10A:NM_006514:exon19:c.C3393G:p.T1131T;cytoBand=3p22.2;genomicSuperDups=.;esp6500siv2_all=0.2202;esp6500siv2_ea=0.2602;esp6500siv2_all=0.2202;esp6500siv2_ea=0.2602;1000g2015aug_all=0.219649;avsnp147=rs6771157;Kaviar_AF=0.239654;Kaviar_AC=37051;Kaviar_AN=154602;ExAC_ALL=0.2430;ExAC_AFR=0.1359;ExAC_AMR=0.1096;ExAC_EAS=0.3905;ExAC_FIN=0.2743;ExAC_NFE=0.2636;ExAC_OTH=0.2632;ExAC_SAS=0.2301;CLNALLELEID=251111;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0784;dpsi_zscore=0.412;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2394;gnomAD_exome_AFR=0.1322;gnomAD_exome_AMR=0.1137;gnomAD_exome_ASJ=0.3353;gnomAD_exome_EAS=0.3895;gnomAD_exome_FIN=0.2712;gnomAD_exome_NFE=0.2571;gnomAD_exome_OTH=0.2440;gnomAD_exome_SAS=0.2271;gnomAD_genome_ALL=0.2341;gnomAD_genome_AFR=0.1394;gnomAD_genome_AMR=0.1232;gnomAD_genome_ASJ=0.3079;gnomAD_genome_EAS=0.4056;gnomAD_genome_FIN=0.2573;gnomAD_genome_NFE=0.2677;gnomAD_genome_OTH=0.2648;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . 1/1:120:0,120 . . . . . . . 1/1:101:0,101 . . . . 1:160:0,77 1:96:0,48 1:127:0,67 1:140:0,64 . . 1:100:0,47 . . 1/1:137:0,137 . . 1:101:0,43 . . . . . . . 1/1:116:0,116 . . 1:85:0,52 1/1:74:0,74 1:118:0,53 1/1:126:0,126 . 3 38764998 259997;rs12632942 A G 194.01 . #_unique_end_positions=,59;#_unique_start_positions=,54;AC=20;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1210;AF_ESP_clinvar_20171029_hg19=,0.2200;AF_EXAC_clinvar_20171029_hg19=,0.27905;AF_TGP_clinvar_20171029_hg19=,0.2197;ALLELEID_clinvar_20171029_hg19=,251112;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1210;AN=20;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001280236.2:p.Leu994Pro|_NP_001280235.2:p.Leu1091Pro|_NP_006505.3:p.Leu1092Pro;Amino_acid_change_in_longest_transcript=,NP_006505.3:p.Leu1092Pro;BaseQRankSum=,0.31;CAF_dbsnp_common_v150_hg19_refseq=,0.7804|0.2196;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000003.11:g.38764998A>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001293306.2:c.3272T>C|_NM_001293307.2:c.2981T>C|_NM_006514.3:c.3275T>C;Coding_region_change_in_longest_transcript=,NM_006514.3:c.3275T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3760;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2465;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,48;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,SCN10A:6336;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:6336;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:6336;Genotype=,G/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:10582;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:10582;Homo_sapiens_refseq_GRCh37.p13_Genes=,SCN10A;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001293307.2|NM_001293306.2|NM_006514.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene7233;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna10862|rna10863|rna10864;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:604427;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:604427;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene7233;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,38764998;RS_dbsnp_common_v150_hg19_refseq=,12632942;Read_count=,119;Read_coverage=,119;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001293307.2|NM_001293306.2|NM_006514.3;Reverse_read_coverage=,71;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2342;SF=1,9,14,15,16,17,20,23,26,34,37,38,39,40;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.801738|0.198262;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128000a05170537000101;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.132653;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.243363;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.463415;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.394118;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.255682;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.360465;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.411765;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.0833333;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.11;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.136364;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.261364;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.10177;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.01;db_xref=,GeneID:6336|HGNC:HGNC:10582|MIM:604427;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001293307.2|Genbank:NM_001293306.2|Genbank:NM_006514.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,sodium_voltage-gated_channel_alpha_subunit_10;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SCN10A;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SCN10A;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,FEPS2|hPN3|Nav1.8|PN3|SNS;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,sodium_voltage-gated_channel_alpha_subunit_10|_transcript_variant_3|sodium_voltage-gated_channel_alpha_subunit_10|_transcript_variant_2|sodium_voltage-gated_channel_alpha_subunit_10|_transcript_variant_1;transcript_id=,NM_001293307.2|NM_001293306.2|NM_006514.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN10A:NM_001293307:exon17:c.T2981C:p.L994P,SCN10A:NM_001293306:exon18:c.T3272C:p.L1091P,SCN10A:NM_006514:exon18:c.T3275C:p.L1092P;cytoBand=3p22.2;genomicSuperDups=.;esp6500siv2_all=0.2200;esp6500siv2_ea=0.26;esp6500siv2_all=0.2200;esp6500siv2_ea=0.26;1000g2015aug_all=0.219649;avsnp147=rs12632942;Kaviar_AF=0.237862;Kaviar_AC=36774;Kaviar_AN=154602;ExAC_ALL=0.2790;ExAC_AFR=0.1570;ExAC_AMR=0.1454;ExAC_EAS=0.4314;ExAC_FIN=0.3188;ExAC_NFE=0.3007;ExAC_OTH=0.2917;ExAC_SAS=0.2531;CLNALLELEID=251112;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.604;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=-1.72;FATHMM_pred=D;PROVEAN_score=3.19;PROVEAN_pred=N;VEST3_score=0.05;CADD_raw=0.961;CADD_phred=10.43;DANN_score=0.836;fathmm-MKL_coding_score=0.007;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.997;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.497;integrated_confidence_value=0;GERP++_RS=-0.53;phyloP7way_vertebrate=-0.666;phyloP20way_mammalian=-0.231;phastCons7way_vertebrate=0.769;phastCons20way_mammalian=0.961;SiPhy_29way_logOdds=11.785;GDI_full_10282015=.;dpsi_max_tissue=-0.0516;dpsi_zscore=-0.272;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM108212#"QRS_interval_association_with";gnomAD_exome_ALL=0.2401;gnomAD_exome_AFR=0.1326;gnomAD_exome_AMR=0.1141;gnomAD_exome_ASJ=0.3353;gnomAD_exome_EAS=0.3905;gnomAD_exome_FIN=0.2720;gnomAD_exome_NFE=0.2587;gnomAD_exome_OTH=0.2452;gnomAD_exome_SAS=0.2274;gnomAD_genome_ALL=0.2342;gnomAD_genome_AFR=0.1401;gnomAD_genome_AMR=0.1244;gnomAD_genome_ASJ=0.3079;gnomAD_genome_EAS=0.4063;gnomAD_genome_FIN=0.2574;gnomAD_genome_NFE=0.2678;gnomAD_genome_OTH=0.2637;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . 1/1:103:0,103 . . . . . . . 1/1:104:0,104 . . . . 1:158:0,88 1:121:0,60 1:119:0,65 1:119:0,59 . . 1:73:0,32 . . 1/1:134:0,134 . . 1:94:0,48 . . . . . . . 1/1:110:0,110 . . 1:69:0,34 1/1:83:0,83 1:135:0,79 1/1:85:0,85 . 3 38766675 259996;rs6795970 A G 194.14 . #_unique_end_positions=,31;#_unique_start_positions=,27;AC=49;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9478;ALLELEID_clinvar_20171029_hg19=,251113;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6441;AN=49;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_006505.3:p.Val1073Ala|_NP_001280235.2:p.Val1072Ala|_NP_001280236.2:p.Val975Ala;Amino_acid_change_in_longest_transcript=,NP_006505.3:p.Val1073Ala;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.242|0.758;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000003.11:g.38766675A>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001293306.2:c.3215T>C|_NM_001293307.2:c.2924T>C|_NM_006514.3:c.3218T>C;Coding_region_change_in_longest_transcript=,NM_006514.3:c.3218T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.8194;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5905;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,64;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,SCN10A:6336;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:6336;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:6336;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:10582;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:10582;Homo_sapiens_refseq_GRCh37.p13_Genes=,SCN10A;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001293307.2|NM_001293306.2|NM_006514.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene7233;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna10862|rna10863|rna10864;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:604427;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:604427;MTP_dbsnp_common_v150_hg19_refseq=,MTP;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene7233;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,38766675;RS_dbsnp_common_v150_hg19_refseq=,6795970;Read_count=,45;Read_coverage=,100;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.8587247162667617;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001293307.2|NM_001293306.2|NM_006514.3;Reverse_read_coverage=,36;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6912;SF=0,1,3,4,5,6,7,9,11,12,14,15,16,17,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,36,37,38,39,40;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.257435|0.742565;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128000a0515053f020100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.887755;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.579646;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.890244;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.876471;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.630682;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.837209;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.77907;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.933333;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.72;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.897887;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.5625;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.99115;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.0;db_xref=,GeneID:6336|HGNC:HGNC:10582|MIM:604427;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001293307.2|Genbank:NM_001293306.2|Genbank:NM_006514.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,sodium_voltage-gated_channel_alpha_subunit_10;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SCN10A;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SCN10A;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,FEPS2|hPN3|Nav1.8|PN3|SNS;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,sodium_voltage-gated_channel_alpha_subunit_10|_transcript_variant_3|sodium_voltage-gated_channel_alpha_subunit_10|_transcript_variant_2|sodium_voltage-gated_channel_alpha_subunit_10|_transcript_variant_1;transcript_id=,NM_001293307.2|NM_001293306.2|NM_006514.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN10A:NM_001293307:exon16:c.T2924C:p.V975A,SCN10A:NM_001293306:exon17:c.T3215C:p.V1072A,SCN10A:NM_006514:exon17:c.T3218C:p.V1073A;cytoBand=3p22.2;genomicSuperDups=.;esp6500siv2_all=0.7025;esp6500siv2_ea=0.6019;esp6500siv2_all=0.7025;esp6500siv2_ea=0.6019;1000g2015aug_all=0.757987;avsnp147=rs6795970;Kaviar_AF=0.648258;Kaviar_AC=100222;Kaviar_AN=154602;ExAC_ALL=0.6586;ExAC_AFR=0.9072;ExAC_AMR=0.6796;ExAC_EAS=0.8436;ExAC_FIN=0.5514;ExAC_NFE=0.6036;ExAC_OTH=0.6264;ExAC_SAS=0.6564;CLNALLELEID=251113;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.115;MutationAssessor_pred=N;FATHMM_score=-3.69;FATHMM_pred=D;PROVEAN_score=0.51;PROVEAN_pred=N;VEST3_score=0.018;CADD_raw=-0.943;CADD_phred=0.021;DANN_score=0.538;fathmm-MKL_coding_score=0.003;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.912;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=-4.56;phyloP7way_vertebrate=-0.841;phyloP20way_mammalian=-0.733;phastCons7way_vertebrate=0.027;phastCons20way_mammalian=0.010;SiPhy_29way_logOdds=0.783;GDI_full_10282015=.;dpsi_max_tissue=0.2564;dpsi_zscore=0.823;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM108213#"QRS_interval_association_with";gnomAD_exome_ALL=0.6508;gnomAD_exome_AFR=0.9122;gnomAD_exome_AMR=0.6879;gnomAD_exome_ASJ=0.5802;gnomAD_exome_EAS=0.8484;gnomAD_exome_FIN=0.5494;gnomAD_exome_NFE=0.6030;gnomAD_exome_OTH=0.6201;gnomAD_exome_SAS=0.6449;gnomAD_genome_ALL=0.7048;gnomAD_genome_AFR=0.9093;gnomAD_genome_AMR=0.6957;gnomAD_genome_ASJ=0.6192;gnomAD_genome_EAS=0.8673;gnomAD_genome_FIN=0.5289;gnomAD_genome_NFE=0.6167;gnomAD_genome_OTH=0.6237;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:80:0,37 1/1:109:0,109 . 1:110:0,55 1:70:0,35 1:87:0,36 1:74:0,38 1/1:83:0,83 . 1/1:92:0,92 . 1/1:107:0,107 1:125:0,43 . 1:147:0,84 1/1:108:0,108 1:103:0,61 1/1:113:0,113 . 1/1:85:0,85 1/1:109:0,109 1:155:0,70 1:129:0,66 1/1:102:0,102 1/1:123:0,123 1:79:0,42 1/1:101:0,101 1:132:0,58 1:120:0,51 1:120:0,65 1:82:0,32 1:85:0,40 1:103:0,49 1:83:0,36 1/1:113:0,113 . 1:74:0,33 1:77:0,40 1/1:82:0,82 1:114:0,53 1/1:137:0,137 . 3 38766701 259995;rs6791171 C T 191.91 . #_unique_end_positions=,42;#_unique_start_positions=,41;AC=6;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1967;AF_ESP_clinvar_20171029_hg19=,0.1612;AF_EXAC_clinvar_20171029_hg19=,0.12560;AF_TGP_clinvar_20171029_hg19=,0.1154;ALLELEID_clinvar_20171029_hg19=,251114;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1383;AN=6;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.8846|0.1154;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000003.11:g.38766701C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001293306.2:c.3189G>A|_NM_001293307.2:c.2898G>A|_NM_006514.3:c.3192G>A;Coding_region_change_in_longest_transcript=,NM_006514.3:c.3192G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0020;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1322;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,59;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,SCN10A:6336;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:6336;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:6336;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:10582;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:10582;Homo_sapiens_refseq_GRCh37.p13_Genes=,SCN10A;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001293307.2|NM_001293306.2|NM_006514.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene7233;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna10862|rna10863|rna10864;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:604427;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:604427;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene7233;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,38766701;RS_dbsnp_common_v150_hg19_refseq=,6791171;Read_count=,58;Read_coverage=,118;Read_direction_test_probability=,0.7775322734114246;Read_position_test_probability=,0.9033212925887832;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001293307.2|NM_001293306.2|NM_006514.3;Reverse_read_coverage=,59;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0890;SF=3,4,24,26,31;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.833127|0.166873;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05012800030515053f000101;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.163265;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.116667;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.102273;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.172222;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.2;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.0851064;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.0852273;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.225;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.001;db_xref=,GeneID:6336|HGNC:HGNC:10582|MIM:604427;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001293307.2|Genbank:NM_001293306.2|Genbank:NM_006514.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,sodium_voltage-gated_channel_alpha_subunit_10;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SCN10A;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SCN10A;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,FEPS2|hPN3|Nav1.8|PN3|SNS;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,sodium_voltage-gated_channel_alpha_subunit_10|_transcript_variant_3|sodium_voltage-gated_channel_alpha_subunit_10|_transcript_variant_2|sodium_voltage-gated_channel_alpha_subunit_10|_transcript_variant_1;transcript_id=,NM_001293307.2|NM_001293306.2|NM_006514.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN10A:NM_001293307:exon16:c.G2898A:p.T966T,SCN10A:NM_001293306:exon17:c.G3189A:p.T1063T,SCN10A:NM_006514:exon17:c.G3192A:p.T1064T;cytoBand=3p22.2;genomicSuperDups=.;esp6500siv2_all=0.1612;esp6500siv2_ea=0.1414;esp6500siv2_all=0.1612;esp6500siv2_ea=0.1414;1000g2015aug_all=0.115415;avsnp147=rs6791171;Kaviar_AF=0.126564;Kaviar_AC=19567;Kaviar_AN=154602;ExAC_ALL=0.1256;ExAC_AFR=0.2073;ExAC_AMR=0.1187;ExAC_EAS=0.0007;ExAC_FIN=0.1107;ExAC_NFE=0.1411;ExAC_OTH=0.1109;ExAC_SAS=0.0883;CLNALLELEID=251114;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.2389;dpsi_zscore=-0.757;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1217;gnomAD_exome_AFR=0.2041;gnomAD_exome_AMR=0.1224;gnomAD_exome_ASJ=0.0869;gnomAD_exome_EAS=0.0005;gnomAD_exome_FIN=0.1068;gnomAD_exome_NFE=0.1448;gnomAD_exome_OTH=0.1180;gnomAD_exome_SAS=0.0863;gnomAD_genome_ALL=0.1534;gnomAD_genome_AFR=0.2130;gnomAD_genome_AMR=0.1444;gnomAD_genome_ASJ=0.1093;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0999;gnomAD_genome_NFE=0.1510;gnomAD_genome_OTH=0.1235;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . 1:108:0,54 1:71:0,34 . . . . . . . . . . . . . . . . . . . 1/1:101:0,101 . 1:98:0,46 . . . . 1:73:0,38 . . . . . . . . . . 3 38766760 240667;rs73062575 G T 200.00 . #_unique_end_positions=,27;#_unique_start_positions=,27;AC=2;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0008;AF_ESP_clinvar_20171029_hg19=,0.0227;AF_EXAC_clinvar_20171029_hg19=,0.01490;AF_TGP_clinvar_20171029_hg19=,0.0056;ALLELEID_clinvar_20171029_hg19=,239227;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0058;AN=2;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001280235.2:p.Pro1044Thr|_NP_006505.3:p.Pro1045Thr|_NP_001280236.2:p.Pro947Thr;Amino_acid_change_in_longest_transcript=,NP_006505.3:p.Pro1045Thr;BaseQRankSum=,-0.22;CAF_dbsnp_common_v150_hg19_refseq=,0.9944|0.005591;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1142166|Orphanet:ORPHA130|SNOMED_CT:418818005|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Brugada_syndrome|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000003.11:g.38766760G>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001293306.2:c.3130C>A|_NM_001293307.2:c.2839C>A|_NM_006514.3:c.3133C>A;Coding_region_change_in_longest_transcript=,NM_006514.3:c.3133C>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0179;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,40;GENEINFO_dbsnp_common_v150_hg19_refseq=,SCN10A:6336;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:6336;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:6336;Genotype=,G/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:10582;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:10582;Homo_sapiens_refseq_GRCh37.p13_Genes=,SCN10A;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001293307.2|NM_001293306.2|NM_006514.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene7233;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna10862|rna10863|rna10864;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:604427;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:604427;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene7233;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,38766760;RS_dbsnp_common_v150_hg19_refseq=,73062575;Read_count=,35;Read_coverage=,76;Read_direction_test_probability=,0.999412131813685;Read_position_test_probability=,0.9261236577901978;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001293307.2|NM_001293306.2|NM_006514.3;Reverse_read_coverage=,36;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0051;SF=4,28;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.986778|0.0132221;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050000000a0504043e000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.021;db_xref=,GeneID:6336|HGNC:HGNC:10582|MIM:604427;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001293307.2|Genbank:NM_001293306.2|Genbank:NM_006514.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,sodium_voltage-gated_channel_alpha_subunit_10;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SCN10A;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SCN10A;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,FEPS2|hPN3|Nav1.8|PN3|SNS;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,sodium_voltage-gated_channel_alpha_subunit_10|_transcript_variant_3|sodium_voltage-gated_channel_alpha_subunit_10|_transcript_variant_2|sodium_voltage-gated_channel_alpha_subunit_10|_transcript_variant_1;transcript_id=,NM_001293307.2|NM_001293306.2|NM_006514.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN10A:NM_001293307:exon16:c.C2839A:p.P947T,SCN10A:NM_001293306:exon17:c.C3130A:p.P1044T,SCN10A:NM_006514:exon17:c.C3133A:p.P1045T;cytoBand=3p22.2;genomicSuperDups=.;esp6500siv2_all=0.0227;esp6500siv2_ea=0.0317;esp6500siv2_all=0.0227;esp6500siv2_ea=0.0317;1000g2015aug_all=0.00559105;avsnp147=rs73062575;Kaviar_AF=0.0158342;Kaviar_AC=2448;Kaviar_AN=154602;ExAC_ALL=0.0149;ExAC_AFR=0.0048;ExAC_AMR=0.0079;ExAC_EAS=0;ExAC_FIN=0.0143;ExAC_NFE=0.0224;ExAC_OTH=0.0101;ExAC_SAS=0.0041;CLNALLELEID=239227;CLNDN=Brugada_syndrome|not_specified;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.116;SIFT_pred=T;Polyphen2_HDIV_score=0.101;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.061;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=1.15;MutationAssessor_pred=L;FATHMM_score=-3.66;FATHMM_pred=D;PROVEAN_score=-0.74;PROVEAN_pred=N;VEST3_score=0.073;CADD_raw=0.370;CADD_phred=6.350;DANN_score=0.813;fathmm-MKL_coding_score=0.068;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.406;MetaSVM_pred=T;MetaLR_score=0.469;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=2.52;phyloP7way_vertebrate=-1.415;phyloP20way_mammalian=-0.307;phastCons7way_vertebrate=0.004;phastCons20way_mammalian=0.004;SiPhy_29way_logOdds=11.682;GDI_full_10282015=.;dpsi_max_tissue=0.9566;dpsi_zscore=1.495;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0156;gnomAD_exome_AFR=0.0044;gnomAD_exome_AMR=0.0079;gnomAD_exome_ASJ=0.0215;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0152;gnomAD_exome_NFE=0.0244;gnomAD_exome_OTH=0.0144;gnomAD_exome_SAS=0.0043;gnomAD_genome_ALL=0.0157;gnomAD_genome_AFR=0.0044;gnomAD_genome_AMR=0.0072;gnomAD_genome_ASJ=0.0298;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0137;gnomAD_genome_NFE=0.0246;gnomAD_genome_OTH=0.0153;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . 1:67:0,32 . . . . . . . . . . . . . . . . . . . . . . . 1:123:0,66 . . . . . . . . . . . . . 3 38768247 259994;rs59468016 G A 196.77 . #_unique_end_positions=,88;#_unique_start_positions=,70;AC=18;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0151;AF_ESP_clinvar_20171029_hg19=,0.1901;AF_EXAC_clinvar_20171029_hg19=,0.23496;AF_TGP_clinvar_20171029_hg19=,0.1905;ALLELEID_clinvar_20171029_hg19=,251115;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1081;AN=18;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.09;CAF_dbsnp_common_v150_hg19_refseq=,0.8095|0.1905;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000003.11:g.38768247G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001293306.2:c.2937C>T|_NM_001293307.2:c.2643C>T|_NM_006514.3:c.2937C>T;Coding_region_change_in_longest_transcript=,NM_006514.3:c.2937C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3730;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2525;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,129;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,SCN10A:6336;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:6336;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:6336;Genotype=,A/A;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:10582;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:10582;Homo_sapiens_refseq_GRCh37.p13_Genes=,SCN10A;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001293307.2|NM_001293306.2|NM_006514.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene7233;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna10862|rna10863|rna10864;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:604427;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:604427;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene7233;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,38768247;RS_dbsnp_common_v150_hg19_refseq=,59468016;Read_count=,205;Read_coverage=,205;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001293307.2|NM_001293306.2|NM_006514.3;Reverse_read_coverage=,76;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2342;SF=1,9,14,16,17,20,22,23,26,34,37,38,39,40;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.847551|0.152449;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128000305150536000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.555;db_xref=,GeneID:6336|HGNC:HGNC:10582|MIM:604427;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001293307.2|Genbank:NM_001293306.2|Genbank:NM_006514.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,sodium_voltage-gated_channel_alpha_subunit_10;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SCN10A;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SCN10A;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,FEPS2|hPN3|Nav1.8|PN3|SNS;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,sodium_voltage-gated_channel_alpha_subunit_10|_transcript_variant_3|sodium_voltage-gated_channel_alpha_subunit_10|_transcript_variant_2|sodium_voltage-gated_channel_alpha_subunit_10|_transcript_variant_1;transcript_id=,NM_001293307.2|NM_001293306.2|NM_006514.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN10A:NM_001293307:exon15:c.C2643T:p.G881G,SCN10A:NM_001293306:exon16:c.C2937T:p.G979G,SCN10A:NM_006514:exon16:c.C2937T:p.G979G;cytoBand=3p22.2;genomicSuperDups=.;esp6500siv2_all=0.1901;esp6500siv2_ea=0.2614;esp6500siv2_all=0.1901;esp6500siv2_ea=0.2614;1000g2015aug_all=0.190495;avsnp147=rs59468016;Kaviar_AF=0.231646;Kaviar_AC=35813;Kaviar_AN=154602;ExAC_ALL=0.2350;ExAC_AFR=0.0452;ExAC_AMR=0.1043;ExAC_EAS=0.3922;ExAC_FIN=0.2736;ExAC_NFE=0.2635;ExAC_OTH=0.2539;ExAC_SAS=0.2315;CLNALLELEID=251115;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1476;dpsi_zscore=-0.575;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2328;gnomAD_exome_AFR=0.0412;gnomAD_exome_AMR=0.1073;gnomAD_exome_ASJ=0.3350;gnomAD_exome_EAS=0.3893;gnomAD_exome_FIN=0.2700;gnomAD_exome_NFE=0.2571;gnomAD_exome_OTH=0.2382;gnomAD_exome_SAS=0.2290;gnomAD_genome_ALL=0.2070;gnomAD_genome_AFR=0.0493;gnomAD_genome_AMR=0.1181;gnomAD_genome_ASJ=0.2947;gnomAD_genome_EAS=0.4061;gnomAD_genome_FIN=0.2547;gnomAD_genome_NFE=0.2661;gnomAD_genome_OTH=0.2572;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . 1/1:185:0,185 . . . . . . . 1/1:185:0,185 . . . . 1:284:0,147 . 1:186:0,87 1:189:0,90 . . 1:140:0,64 . 1:243:0,106 1:217:0,88 . . 1:163:0,71 . . . . . . . 1/1:165:0,165 . . 1:113:0,56 1:164:0,74 1:229:0,118 1/1:173:0,173 . 3 38768300 95401;rs57326399 T C 194.29 . #_unique_end_positions=,98;#_unique_start_positions=,76;AC=19;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0862;AF_ESP_clinvar_20171029_hg19=,0.2103;AF_EXAC_clinvar_20171029_hg19=,0.24093;AF_TGP_clinvar_20171029_hg19=,0.2107;ALLELEID_clinvar_20171029_hg19=,101300;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1153;AN=19;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001280235.2:p.Ile962Val|_NP_006505.3:p.Ile962Val|_NP_001280236.2:p.Ile864Val;Amino_acid_change_in_longest_transcript=,NP_006505.3:p.Ile962Val;BaseQRankSum=,0.42;CAF_dbsnp_common_v150_hg19_refseq=,0.7893|0.2107;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000003.11:g.38768300T>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001293306.2:c.2884A>G|_NM_001293307.2:c.2590A>G|_NM_006514.3:c.2884A>G;Coding_region_change_in_longest_transcript=,NM_006514.3:c.2884A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3730;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2545;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,117;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,SCN10A:6336;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:6336;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:6336;Genotype=,C/C;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:10582;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:10582;Homo_sapiens_refseq_GRCh37.p13_Genes=,SCN10A;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001293307.2|NM_001293306.2|NM_006514.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene7233;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna10862|rna10863|rna10864;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:604427;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:604427;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene7233;QUAL=,154.7746851547134;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,38768300;RS_dbsnp_common_v150_hg19_refseq=,57326399;Read_count=,227;Read_coverage=,227;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001293307.2|NM_001293306.2|NM_006514.3;Reverse_read_coverage=,110;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2342;SF=1,9,14,15,16,17,20,22,23,26,34,37,38,39,40;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.819115|0.180885;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128000a05150536000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.093;db_xref=,GeneID:6336|HGNC:HGNC:10582|MIM:604427;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001293307.2|Genbank:NM_001293306.2|Genbank:NM_006514.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,sodium_voltage-gated_channel_alpha_subunit_10;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SCN10A;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SCN10A;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,FEPS2|hPN3|Nav1.8|PN3|SNS;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,sodium_voltage-gated_channel_alpha_subunit_10|_transcript_variant_3|sodium_voltage-gated_channel_alpha_subunit_10|_transcript_variant_2|sodium_voltage-gated_channel_alpha_subunit_10|_transcript_variant_1;transcript_id=,NM_001293307.2|NM_001293306.2|NM_006514.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN10A:NM_001293307:exon15:c.A2590G:p.I864V,SCN10A:NM_001293306:exon16:c.A2884G:p.I962V,SCN10A:NM_006514:exon16:c.A2884G:p.I962V;cytoBand=3p22.2;genomicSuperDups=.;esp6500siv2_all=0.2103;esp6500siv2_ea=0.2620;esp6500siv2_all=0.2103;esp6500siv2_ea=0.2620;1000g2015aug_all=0.210663;avsnp147=rs57326399;Kaviar_AF=0.235411;Kaviar_AC=36395;Kaviar_AN=154602;ExAC_ALL=0.2409;ExAC_AFR=0.1082;ExAC_AMR=0.1068;ExAC_EAS=0.3919;ExAC_FIN=0.2734;ExAC_NFE=0.2642;ExAC_OTH=0.2550;ExAC_SAS=0.2318;CLNALLELEID=101300;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.117;SIFT_pred=T;Polyphen2_HDIV_score=0.437;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.17;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.345;MutationAssessor_pred=N;FATHMM_score=-1.77;FATHMM_pred=D;PROVEAN_score=0.18;PROVEAN_pred=N;VEST3_score=0.05;CADD_raw=-1.544;CADD_phred=0.002;DANN_score=0.344;fathmm-MKL_coding_score=0.064;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.095;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.526;integrated_confidence_value=0;GERP++_RS=-4.17;phyloP7way_vertebrate=0.084;phyloP20way_mammalian=-0.205;phastCons7way_vertebrate=0.593;phastCons20way_mammalian=0.965;SiPhy_29way_logOdds=6.362;GDI_full_10282015=.;dpsi_max_tissue=0.0383;dpsi_zscore=0.242;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2373;gnomAD_exome_AFR=0.1021;gnomAD_exome_AMR=0.1103;gnomAD_exome_ASJ=0.3373;gnomAD_exome_EAS=0.3890;gnomAD_exome_FIN=0.2701;gnomAD_exome_NFE=0.2575;gnomAD_exome_OTH=0.2402;gnomAD_exome_SAS=0.2290;gnomAD_genome_ALL=0.2240;gnomAD_genome_AFR=0.1092;gnomAD_genome_AMR=0.1205;gnomAD_genome_ASJ=0.2947;gnomAD_genome_EAS=0.4057;gnomAD_genome_FIN=0.2547;gnomAD_genome_NFE=0.2662;gnomAD_genome_OTH=0.2597;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . 1/1:199:0,199 . . . . . . . 1/1:190:0,190 . . . . 1:288:0,146 1:189:0,107 1:204:0,100 1:202:0,97 . . 1:136:0,59 . 1:251:0,115 1:211:0,91 . . 1:182:0,89 . . . . . . . 1/1:188:0,188 . . 1:116:0,68 1:163:0,70 1:216:0,111 1/1:176:0,176 . 3 38768334 380869;rs7374804 T C 200.00 . #_unique_end_positions=,38;#_unique_start_positions=,33;AC=12;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1051;ALLELEID_clinvar_20171029_hg19=,367520;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1037;AN=12;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.18;CAF_dbsnp_common_v150_hg19_refseq=,0.864|0.136;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000003.11:g.38768334T>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_single_submitter;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001293306.2:c.2850A>G|_NM_001293307.2:c.2556A>G|_NM_006514.3:c.2850A>G;Coding_region_change_in_longest_transcript=,NM_006514.3:c.2850A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2599;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0636;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,73;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,SCN10A:6336;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:6336;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:6336;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:10582;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:10582;Homo_sapiens_refseq_GRCh37.p13_Genes=,SCN10A;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001293307.2|NM_001293306.2|NM_006514.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene7233;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna10862|rna10863|rna10864;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:604427;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:604427;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene7233;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,38768334;RS_dbsnp_common_v150_hg19_refseq=,7374804;Read_count=,63;Read_coverage=,137;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.7461290433052057;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001293307.2|NM_001293306.2|NM_006514.3;Reverse_read_coverage=,64;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1472;SF=0,6,7,11,19,20,23,27,29,32,36,38;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.917748|0.0822515;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050100000305170537000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.1;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.211111;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.267442;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0603448;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.301;db_xref=,GeneID:6336|HGNC:HGNC:10582|MIM:604427;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001293307.2|Genbank:NM_001293306.2|Genbank:NM_006514.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,sodium_voltage-gated_channel_alpha_subunit_10;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SCN10A;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SCN10A;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,FEPS2|hPN3|Nav1.8|PN3|SNS;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,sodium_voltage-gated_channel_alpha_subunit_10|_transcript_variant_3|sodium_voltage-gated_channel_alpha_subunit_10|_transcript_variant_2|sodium_voltage-gated_channel_alpha_subunit_10|_transcript_variant_1;transcript_id=,NM_001293307.2|NM_001293306.2|NM_006514.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN10A:NM_001293307:exon15:c.A2556G:p.K852K,SCN10A:NM_001293306:exon16:c.A2850G:p.K950K,SCN10A:NM_006514:exon16:c.A2850G:p.K950K;cytoBand=3p22.2;genomicSuperDups=.;esp6500siv2_all=0.0707;esp6500siv2_ea=0.0648;esp6500siv2_all=0.0707;esp6500siv2_ea=0.0648;1000g2015aug_all=0.135982;avsnp147=rs7374804;Kaviar_AF=0.0912989;Kaviar_AC=14115;Kaviar_AN=154602;ExAC_ALL=0.0947;ExAC_AFR=0.0876;ExAC_AMR=0.1270;ExAC_EAS=0.2700;ExAC_FIN=0.0482;ExAC_NFE=0.0644;ExAC_OTH=0.0925;ExAC_SAS=0.1257;CLNALLELEID=367520;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0799;dpsi_zscore=0.417;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0949;gnomAD_exome_AFR=0.0909;gnomAD_exome_AMR=0.1220;gnomAD_exome_ASJ=0.0577;gnomAD_exome_EAS=0.2757;gnomAD_exome_FIN=0.0458;gnomAD_exome_NFE=0.0656;gnomAD_exome_OTH=0.0716;gnomAD_exome_SAS=0.1233;gnomAD_genome_ALL=0.0799;gnomAD_genome_AFR=0.0868;gnomAD_genome_AMR=0.1127;gnomAD_genome_ASJ=0.0762;gnomAD_genome_EAS=0.2727;gnomAD_genome_FIN=0.0470;gnomAD_genome_NFE=0.0613;gnomAD_genome_OTH=0.0755;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:119:0,52 . . . . . 1:145:0,65 1:149:0,74 . . . 1:182:0,89 . . . . . . . 1:162:0,72 1:134:0,68 . . 1:210:0,116 . . . 1:213:0,119 . 1:207:0,90 . . 1:178:0,98 . . . 1:105:0,45 . 1:153:0,83 . . . 3 38793752 414626;rs148905110 C T 200.00 . #_unique_end_positions=,47;#_unique_start_positions=,44;AC=2;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;ALLELEID_clinvar_20171029_hg19=,393825;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AN=2;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.53;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1142166|Orphanet:ORPHA130|SNOMED_CT:418818005;CLNDN_clinvar_20171029_hg19=,Brugada_syndrome;CLNHGVS_clinvar_20171029_hg19=,NC_000003.11:g.38793752C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_single_submitter;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;Coding_region_change=,NM_001293306.2:c.1713G>A|_NM_001293307.2:c.1462-2077G>A|_NM_006514.3:c.1713G>A;Coding_region_change_in_longest_transcript=,NM_006514.3:c.1713G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;Exact_match=,clinvar_20171029_hg19|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,118;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:6336;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:6336;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:10582;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:10582;Homo_sapiens_refseq_GRCh37.p13_Genes=,SCN10A;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001293306.2|NM_006514.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene7233;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna10863|rna10864;MC_clinvar_20171029_hg19=,SO:0001627|intron_variant|SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:604427;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:604427;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene7233;QUAL=,200.0;Read_count=,77;Read_coverage=,180;Read_direction_test_probability=,0.9955721978506065;Read_position_test_probability=,0.9972539328430677;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001293306.2|NM_006514.3;Reverse_read_coverage=,62;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=23,38;conservation_score=,0.0;db_xref=,GeneID:6336|HGNC:HGNC:10582|MIM:604427;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001293306.2|Genbank:NM_006514.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,sodium_voltage-gated_channel_alpha_subunit_10;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SCN10A;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SCN10A;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,FEPS2|hPN3|Nav1.8|PN3|SNS;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,sodium_voltage-gated_channel_alpha_subunit_10|_transcript_variant_2|sodium_voltage-gated_channel_alpha_subunit_10|_transcript_variant_1;transcript_id=,NM_001293306.2|NM_006514.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN10A:NM_001293306:exon11:c.G1713A:p.P571P,SCN10A:NM_006514:exon11:c.G1713A:p.P571P;cytoBand=3p22.2;genomicSuperDups=.;esp6500siv2_all=0.0005;esp6500siv2_ea=0.0006;esp6500siv2_all=0.0005;esp6500siv2_ea=0.0006;1000g2015aug_all=0.000199681;avsnp147=rs148905110;Kaviar_AF=0.0003234;Kaviar_AC=50;Kaviar_AN=154602;ExAC_ALL=0.0003;ExAC_AFR=9.737e-05;ExAC_AMR=8.693e-05;ExAC_EAS=0;ExAC_FIN=0.0005;ExAC_NFE=0.0004;ExAC_OTH=0;ExAC_SAS=0.0003;CLNALLELEID=393825;CLNDN=Brugada_syndrome|not_specified;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.7450;dpsi_zscore=1.881;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0002;gnomAD_exome_AFR=7.175e-05;gnomAD_exome_AMR=6.965e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=6.77e-05;gnomAD_exome_FIN=0.0003;gnomAD_exome_NFE=0.0004;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0.0002;gnomAD_genome_ALL=0.0003;gnomAD_genome_AFR=0.0002;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0003;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . 1:163:0,71 . . . . . . . . . . . . . . 1:96:0,52 . . . 3 38793874 . C T 200.00 . #_unique_end_positions=,30;#_unique_start_positions=,27;AC=1;AN=1;Amino_acid_change=,NP_001280235.2:p.Glu531Lys|_NP_006505.3:p.Glu531Lys;Amino_acid_change_in_longest_transcript=,NP_006505.3:p.Glu531Lys;BaseQRankSum=,-0.08;Coding_region_change=,NM_001293306.2:c.1591G>A|_NM_001293307.2:c.1462-2199G>A|_NM_006514.3:c.1591G>A;Coding_region_change_in_longest_transcript=,NM_006514.3:c.1591G>A;Forward_read_coverage=,46;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:6336;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:6336;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:10582;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:10582;Homo_sapiens_refseq_GRCh37.p13_Genes=,SCN10A;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001293306.2|NM_006514.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene7233;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna10863|rna10864;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:604427;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:604427;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene7233;QUAL=,200.0;Read_count=,44;Read_coverage=,122;Read_direction_test_probability=,0.9728675834457562;Read_position_test_probability=,0.6604898828969005;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001293306.2|NM_006514.3;Reverse_read_coverage=,76;SF=0;conservation_score=,0.579;db_xref=,GeneID:6336|HGNC:HGNC:10582|MIM:604427;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001293306.2|Genbank:NM_006514.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,sodium_voltage-gated_channel_alpha_subunit_10;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SCN10A;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SCN10A;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,FEPS2|hPN3|Nav1.8|PN3|SNS;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,sodium_voltage-gated_channel_alpha_subunit_10|_transcript_variant_2|sodium_voltage-gated_channel_alpha_subunit_10|_transcript_variant_1;transcript_id=,NM_001293306.2|NM_006514.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN10A:NM_001293306:exon11:c.G1591A:p.E531K,SCN10A:NM_006514:exon11:c.G1591A:p.E531K;cytoBand=3p22.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs866716316;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.022;SIFT_pred=D;Polyphen2_HDIV_score=0.104;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.016;Polyphen2_HVAR_pred=B;LRT_score=0.927;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=1.715;MutationAssessor_pred=L;FATHMM_score=-3.86;FATHMM_pred=D;PROVEAN_score=-2.79;PROVEAN_pred=D;VEST3_score=0.338;CADD_raw=2.227;CADD_phred=17.69;DANN_score=0.997;fathmm-MKL_coding_score=0.094;fathmm-MKL_coding_pred=N;MetaSVM_score=0.171;MetaSVM_pred=D;MetaLR_score=0.779;MetaLR_pred=D;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=3.98;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.021;phastCons20way_mammalian=0.296;SiPhy_29way_logOdds=8.104;GDI_full_10282015=.;dpsi_max_tissue=-1.2144;dpsi_zscore=-1.586;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=1.221e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=5.984e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0;gnomAD_exome_OTH=0;gnomAD_exome_SAS=3.255e-05;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=7 GT:DP:CLCAD2 1:103:0,40 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 3 38793940 380956;rs7630989 A G 200.00 . #_unique_end_positions=,30;#_unique_start_positions=,22;AC=3;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2118;ALLELEID_clinvar_20171029_hg19=,367529;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0865;AN=3;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_006505.3:p.Ser509Pro|_NP_001280235.2:p.Ser509Pro;Amino_acid_change_in_longest_transcript=,NP_006505.3:p.Ser509Pro;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.86|0.14;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000003.11:g.38793940A>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_single_submitter;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001293306.2:c.1525T>C|_NM_001293307.2:c.1462-2265T>C|_NM_006514.3:c.1525T>C;Coding_region_change_in_longest_transcript=,NM_006514.3:c.1525T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2004;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0268;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,38;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,SCN10A:6336;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:6336;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:6336;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:10582;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:10582;Homo_sapiens_refseq_GRCh37.p13_Genes=,SCN10A;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001293306.2|NM_006514.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene7233;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna10863|rna10864;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant|SO:0001627|intron_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:604427;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:604427;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene7233;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,38793940;RS_dbsnp_common_v150_hg19_refseq=,7630989;Read_count=,41;Read_coverage=,100;Read_direction_test_probability=,0.8970645182840365;Read_position_test_probability=,0.7354089683321414;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001293306.2|NM_006514.3;Reverse_read_coverage=,62;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1350;SF=0,11,32;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.881826|0.118174;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128080a0515053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.204082;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0442478;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.243902;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.211765;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.113636;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.162791;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.226744;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.283333;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.08;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.234266;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.0227273;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.256637;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.02;db_xref=,GeneID:6336|HGNC:HGNC:10582|MIM:604427;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001293306.2|Genbank:NM_006514.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,sodium_voltage-gated_channel_alpha_subunit_10;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SCN10A;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SCN10A;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,FEPS2|hPN3|Nav1.8|PN3|SNS;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,sodium_voltage-gated_channel_alpha_subunit_10|_transcript_variant_2|sodium_voltage-gated_channel_alpha_subunit_10|_transcript_variant_1;transcript_id=,NM_001293306.2|NM_006514.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN10A:NM_001293306:exon11:c.T1525C:p.S509P,SCN10A:NM_006514:exon11:c.T1525C:p.S509P;cytoBand=3p22.2;genomicSuperDups=.;esp6500siv2_all=0.0897;esp6500siv2_ea=0.0280;esp6500siv2_all=0.0897;esp6500siv2_ea=0.0280;1000g2015aug_all=0.139976;avsnp147=rs7630989;Kaviar_AF=0.0723859;Kaviar_AC=11191;Kaviar_AN=154602;ExAC_ALL=0.0761;ExAC_AFR=0.2136;ExAC_AMR=0.1076;ExAC_EAS=0.1974;ExAC_FIN=0.0091;ExAC_NFE=0.0288;ExAC_OTH=0.0751;ExAC_SAS=0.1238;CLNALLELEID=367529;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=0.16;SIFT_pred=T;Polyphen2_HDIV_score=0.005;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.002;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.205;MutationAssessor_pred=N;FATHMM_score=-3.81;FATHMM_pred=D;PROVEAN_score=-1.04;PROVEAN_pred=N;VEST3_score=0.046;CADD_raw=-0.356;CADD_phred=0.492;DANN_score=0.932;fathmm-MKL_coding_score=0.031;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.811;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=-0.45;phyloP7way_vertebrate=-0.946;phyloP20way_mammalian=-0.291;phastCons7way_vertebrate=0.000;phastCons20way_mammalian=0.005;SiPhy_29way_logOdds=1.015;GDI_full_10282015=.;dpsi_max_tissue=-0.0756;dpsi_zscore=-0.369;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0724;gnomAD_exome_AFR=0.2133;gnomAD_exome_AMR=0.1073;gnomAD_exome_ASJ=0.0357;gnomAD_exome_EAS=0.1979;gnomAD_exome_FIN=0.0109;gnomAD_exome_NFE=0.0285;gnomAD_exome_OTH=0.0509;gnomAD_exome_SAS=0.1145;gnomAD_genome_ALL=0.0863;gnomAD_genome_AFR=0.2001;gnomAD_genome_AMR=0.0907;gnomAD_genome_ASJ=0.0464;gnomAD_genome_EAS=0.2033;gnomAD_genome_FIN=0.0135;gnomAD_genome_NFE=0.0276;gnomAD_genome_OTH=0.0460;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:83:0,35 . . . . . . . . . . 1:115:0,54 . . . . . . . . . . . . . . . . . . . . 1:130:0,69 . . . . . . . . . 3 38793989 259992;rs7617919 G A 194.41 . #_unique_end_positions=,52;#_unique_start_positions=,47;AC=19;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0787;AF_ESP_clinvar_20171029_hg19=,0.2030;AF_EXAC_clinvar_20171029_hg19=,0.24302;AF_TGP_clinvar_20171029_hg19=,0.2077;ALLELEID_clinvar_20171029_hg19=,251117;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1052;AN=19;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.03;CAF_dbsnp_common_v150_hg19_refseq=,0.7923|0.2077;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000003.11:g.38793989G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001293306.2:c.1476C>T|_NM_001293307.2:c.1462-2314C>T|_NM_006514.3:c.1476C>T;Coding_region_change_in_longest_transcript=,NM_006514.3:c.1476C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3730;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2495;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,21;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,SCN10A:6336;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:6336;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:6336;Genotype=,A/A;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:10582;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:10582;Homo_sapiens_refseq_GRCh37.p13_Genes=,SCN10A;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001293306.2|NM_006514.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene7233;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna10863|rna10864;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001627|intron_variant|SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:604427;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:604427;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene7233;QUAL=,156.53559774527022;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,38793989;RS_dbsnp_common_v150_hg19_refseq=,7617919;Read_count=,112;Read_coverage=,112;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001293306.2|NM_006514.3;Reverse_read_coverage=,91;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2413;SF=1,9,14,15,16,17,20,22,23,26,34,37,38,39,40;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.824542|0.175458;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128080305170537000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.0816327;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.234513;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.451219;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.382353;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.301136;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.348837;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.395349;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.0555556;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.1;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.101399;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.301136;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0663717;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.028;db_xref=,GeneID:6336|HGNC:HGNC:10582|MIM:604427;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001293306.2|Genbank:NM_006514.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,sodium_voltage-gated_channel_alpha_subunit_10;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SCN10A;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SCN10A;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,FEPS2|hPN3|Nav1.8|PN3|SNS;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,sodium_voltage-gated_channel_alpha_subunit_10|_transcript_variant_2|sodium_voltage-gated_channel_alpha_subunit_10|_transcript_variant_1;transcript_id=,NM_001293306.2|NM_006514.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN10A:NM_001293306:exon11:c.C1476T:p.L492L,SCN10A:NM_006514:exon11:c.C1476T:p.L492L;cytoBand=3p22.2;genomicSuperDups=.;esp6500siv2_all=0.2030;esp6500siv2_ea=0.2523;esp6500siv2_all=0.2030;esp6500siv2_ea=0.2523;1000g2015aug_all=0.207668;avsnp147=rs7617919;Kaviar_AF=0.229538;Kaviar_AC=35487;Kaviar_AN=154602;ExAC_ALL=0.2430;ExAC_AFR=0.1118;ExAC_AMR=0.1022;ExAC_EAS=0.4016;ExAC_FIN=0.2684;ExAC_NFE=0.2599;ExAC_OTH=0.2603;ExAC_SAS=0.2592;CLNALLELEID=251117;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.2847;dpsi_zscore=-0.830;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2328;gnomAD_exome_AFR=0.1002;gnomAD_exome_AMR=0.1051;gnomAD_exome_ASJ=0.3329;gnomAD_exome_EAS=0.3907;gnomAD_exome_FIN=0.2613;gnomAD_exome_NFE=0.2507;gnomAD_exome_OTH=0.2344;gnomAD_exome_SAS=0.2314;gnomAD_genome_ALL=0.2179;gnomAD_genome_AFR=0.1063;gnomAD_genome_AMR=0.1184;gnomAD_genome_ASJ=0.2914;gnomAD_genome_EAS=0.4068;gnomAD_genome_FIN=0.2454;gnomAD_genome_NFE=0.2585;gnomAD_genome_OTH=0.2469;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . 1/1:104:0,104 . . . . . . . 1/1:95:0,95 . . . . 1:174:0,96 1:119:0,51 1:97:0,47 1:153:0,78 . . 1:82:0,36 . 1:149:0,53 1:125:0,64 . . 1:83:0,39 . . . . . . . 1/1:102:0,102 . . 1:71:0,42 1:73:0,34 1:115:0,54 1/1:101:0,101 . 3 38798171 259991;rs62244070 C T 193.79 . #_unique_end_positions=,53;#_unique_start_positions=,39;AC=18;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0794;AF_ESP_clinvar_20171029_hg19=,0.2024;AF_EXAC_clinvar_20171029_hg19=,0.23438;AF_TGP_clinvar_20171029_hg19=,0.2075;ALLELEID_clinvar_20171029_hg19=,251118;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1052;AN=18;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.47;CAF_dbsnp_common_v150_hg19_refseq=,0.7925|0.2075;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000003.11:g.38798171C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001293306.2:c.1284G>A|_NM_001293307.2:c.1284G>A|_NM_006514.3:c.1284G>A;Coding_region_change_in_longest_transcript=,NM_006514.3:c.1284G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3720;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2485;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,64;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,SCN10A:6336;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:6336;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:6336;Genotype=,T/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:10582;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:10582;Homo_sapiens_refseq_GRCh37.p13_Genes=,SCN10A;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001293307.2|NM_001293306.2|NM_006514.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene7233;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna10862|rna10863|rna10864;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:604427;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:604427;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene7233;QUAL=,156.53559774527022;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,38798171;RS_dbsnp_common_v150_hg19_refseq=,62244070;Read_count=,81;Read_coverage=,81;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001293307.2|NM_001293306.2|NM_006514.3;Reverse_read_coverage=,17;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2413;SF=1,9,14,15,16,17,22,23,26,34,37,38,39,40;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.825194|0.174806;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128000305170536000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.994;db_xref=,GeneID:6336|HGNC:HGNC:10582|MIM:604427;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001293307.2|Genbank:NM_001293306.2|Genbank:NM_006514.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,sodium_voltage-gated_channel_alpha_subunit_10;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SCN10A;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SCN10A;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,FEPS2|hPN3|Nav1.8|PN3|SNS;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,sodium_voltage-gated_channel_alpha_subunit_10|_transcript_variant_3|sodium_voltage-gated_channel_alpha_subunit_10|_transcript_variant_2|sodium_voltage-gated_channel_alpha_subunit_10|_transcript_variant_1;transcript_id=,NM_001293307.2|NM_001293306.2|NM_006514.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN10A:NM_001293306:exon9:c.G1284A:p.E428E,SCN10A:NM_001293307:exon9:c.G1284A:p.E428E,SCN10A:NM_006514:exon9:c.G1284A:p.E428E;cytoBand=3p22.2;genomicSuperDups=.;esp6500siv2_all=0.2024;esp6500siv2_ea=0.2509;esp6500siv2_all=0.2024;esp6500siv2_ea=0.2509;1000g2015aug_all=0.207468;avsnp147=rs62244070;Kaviar_AF=0.227681;Kaviar_AC=35200;Kaviar_AN=154602;ExAC_ALL=0.2344;ExAC_AFR=0.1052;ExAC_AMR=0.1011;ExAC_EAS=0.3974;ExAC_FIN=0.2622;ExAC_NFE=0.2542;ExAC_OTH=0.2456;ExAC_SAS=0.2319;CLNALLELEID=251118;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.2108;dpsi_zscore=-0.708;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2305;gnomAD_exome_AFR=0.1000;gnomAD_exome_AMR=0.1050;gnomAD_exome_ASJ=0.3298;gnomAD_exome_EAS=0.3918;gnomAD_exome_FIN=0.2586;gnomAD_exome_NFE=0.2474;gnomAD_exome_OTH=0.2307;gnomAD_exome_SAS=0.2287;gnomAD_genome_ALL=0.2167;gnomAD_genome_AFR=0.1055;gnomAD_genome_AMR=0.1158;gnomAD_genome_ASJ=0.2914;gnomAD_genome_EAS=0.4045;gnomAD_genome_FIN=0.2448;gnomAD_genome_NFE=0.2567;gnomAD_genome_OTH=0.2469;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . 1/1:75:0,75 . . . . . . . 1/1:89:0,89 . . . . 1:120:0,60 1:76:0,43 1:76:0,40 1:81:0,34 . . . . 1:83:0,35 1:99:0,51 . . 1:83:0,44 . . . . . . . 1/1:119:0,119 . . 1:60:0,29 1:76:0,35 1:87:0,43 1/1:93:0,93 . 3 38805069 381545;rs74717885 T C 63.68 . #_unique_end_positions=,9;#_unique_start_positions=,9;AC=2;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;ALLELEID_clinvar_20171029_hg19=,368585;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0130;AN=2;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001280236.2:p.Ile206Met|_NP_006505.3:p.Ile206Met|_NP_001280235.2:p.Ile206Met;Amino_acid_change_in_longest_transcript=,NP_006505.3:p.Ile206Met;BaseQRankSum=,0.46;CAF_dbsnp_common_v150_hg19_refseq=,0.9581|0.04193;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1142166|Orphanet:ORPHA130|SNOMED_CT:418818005|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Brugada_syndrome|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000003.11:g.38805069T>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001293306.2:c.618A>G|_NM_001293307.2:c.618A>G|_NM_006514.3:c.618A>G;Coding_region_change_in_longest_transcript=,NM_006514.3:c.618A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1587;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0089;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,17;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,SCN10A:6336;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:6336;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:6336;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:10582;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:10582;Homo_sapiens_refseq_GRCh37.p13_Genes=,SCN10A;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001293307.2|NM_001293306.2|NM_006514.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene7233;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna10862|rna10863|rna10864;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:604427;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:604427;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene7233;QUAL=,53.05650841774448;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,38805069;RS_dbsnp_common_v150_hg19_refseq=,74717885;Read_count=,12;Read_coverage=,36;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9143169729642345;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001293307.2|NM_001293306.2|NM_006514.3;Reverse_read_coverage=,19;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0327;SF=0,32;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.989766|0.0102342;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128000a05150436000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.001;db_xref=,GeneID:6336|HGNC:HGNC:10582|MIM:604427;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001293307.2|Genbank:NM_001293306.2|Genbank:NM_006514.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,sodium_voltage-gated_channel_alpha_subunit_10;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SCN10A;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SCN10A;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,FEPS2|hPN3|Nav1.8|PN3|SNS;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,sodium_voltage-gated_channel_alpha_subunit_10|_transcript_variant_3|sodium_voltage-gated_channel_alpha_subunit_10|_transcript_variant_2|sodium_voltage-gated_channel_alpha_subunit_10|_transcript_variant_1;transcript_id=,NM_001293307.2|NM_001293306.2|NM_006514.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN10A:NM_001293306:exon5:c.A618G:p.I206M,SCN10A:NM_001293307:exon5:c.A618G:p.I206M,SCN10A:NM_006514:exon5:c.A618G:p.I206M;cytoBand=3p22.2;genomicSuperDups=.;esp6500siv2_all=0.0116;esp6500siv2_ea=0.0159;esp6500siv2_all=0.0116;esp6500siv2_ea=0.0159;1000g2015aug_all=0.0419329;avsnp147=rs74717885;Kaviar_AF=0.0243852;Kaviar_AC=3770;Kaviar_AN=154602;ExAC_ALL=0.0256;ExAC_AFR=0.0024;ExAC_AMR=0.0065;ExAC_EAS=0.1489;ExAC_FIN=0.0070;ExAC_NFE=0.0156;ExAC_OTH=0.0352;ExAC_SAS=0.0364;CLNALLELEID=368585;CLNDN=Brugada_syndrome|not_specified;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.01;SIFT_pred=D;Polyphen2_HDIV_score=0.008;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.023;Polyphen2_HVAR_pred=B;LRT_score=0.656;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=0.4;MutationAssessor_pred=N;FATHMM_score=-4.89;FATHMM_pred=D;PROVEAN_score=-1.81;PROVEAN_pred=N;VEST3_score=0.047;CADD_raw=1.807;CADD_phred=15.03;DANN_score=0.913;fathmm-MKL_coding_score=0.204;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.565;MetaSVM_pred=T;MetaLR_score=0.014;MetaLR_pred=T;integrated_fitCons_score=0.598;integrated_confidence_value=0;GERP++_RS=-0.839;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=0.964;phastCons7way_vertebrate=0.274;phastCons20way_mammalian=0.917;SiPhy_29way_logOdds=1.478;GDI_full_10282015=.;dpsi_max_tissue=1.4429;dpsi_zscore=1.754;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM147566#"Brugada_syndrome";gnomAD_exome_ALL=0.0252;gnomAD_exome_AFR=0.0024;gnomAD_exome_AMR=0.0074;gnomAD_exome_ASJ=0.0229;gnomAD_exome_EAS=0.1514;gnomAD_exome_FIN=0.0067;gnomAD_exome_NFE=0.0156;gnomAD_exome_OTH=0.0153;gnomAD_exome_SAS=0.0358;gnomAD_genome_ALL=0.0179;gnomAD_genome_AFR=0.0025;gnomAD_genome_AMR=0.0072;gnomAD_genome_ASJ=0.0265;gnomAD_genome_EAS=0.1554;gnomAD_genome_FIN=0.0086;gnomAD_genome_NFE=0.0147;gnomAD_genome_OTH=0.0163;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:27:0,9 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:47:0,15 . . . . . . . . . 3 38835500 . A G 200.00 . #_unique_end_positions=,37;#_unique_start_positions=,31;AC=1;AN=1;Amino_acid_change=,NP_006505.3:p.Met1?|_NP_001280235.2:p.Met1?|_NP_001280236.2:p.Met1?;Amino_acid_change_in_longest_transcript=,NP_006505.3:p.Met1?;BaseQRankSum=,0.11;Coding_region_change=,NM_001293306.2:c.2T>C|_NM_001293307.2:c.2T>C|_NM_006514.3:c.2T>C;Coding_region_change_in_longest_transcript=,NM_006514.3:c.2T>C;Forward_read_coverage=,15;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:6336;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:6336;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:10582;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:10582;Homo_sapiens_refseq_GRCh37.p13_Genes=,SCN10A;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001293307.2|NM_001293306.2|NM_006514.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene7233;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna10862|rna10863|rna10864;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:604427;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:604427;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene7233;QUAL=,200.0;Read_count=,50;Read_coverage=,110;Read_direction_test_probability=,0.9958234781706312;Read_position_test_probability=,0.691704359971846;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001293307.2|NM_001293306.2|NM_006514.3;Reverse_read_coverage=,95;SF=40;conservation_score=,1.0;db_xref=,GeneID:6336|HGNC:HGNC:10582|MIM:604427;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001293307.2|Genbank:NM_001293306.2|Genbank:NM_006514.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,sodium_voltage-gated_channel_alpha_subunit_10;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SCN10A;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SCN10A;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,FEPS2|hPN3|Nav1.8|PN3|SNS;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,sodium_voltage-gated_channel_alpha_subunit_10|_transcript_variant_3|sodium_voltage-gated_channel_alpha_subunit_10|_transcript_variant_2|sodium_voltage-gated_channel_alpha_subunit_10|_transcript_variant_1;transcript_id=,NM_001293307.2|NM_001293306.2|NM_006514.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN10A:NM_001293306:exon1:c.T2C:p.M1T,SCN10A:NM_001293307:exon1:c.T2C:p.M1T,SCN10A:NM_006514:exon1:c.T2C:p.M1T;cytoBand=3p22.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs749292402;Kaviar_AF=3.23e-05;Kaviar_AC=5;Kaviar_AN=154602;ExAC_ALL=4.129e-05;ExAC_AFR=0;ExAC_AMR=0.0002;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=4.501e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=0.973;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.885;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=-3.76;FATHMM_pred=D;PROVEAN_score=-2.69;PROVEAN_pred=D;VEST3_score=0.925;CADD_raw=5.158;CADD_phred=25.4;DANN_score=0.993;fathmm-MKL_coding_score=0.988;fathmm-MKL_coding_pred=D;MetaSVM_score=1.024;MetaSVM_pred=D;MetaLR_score=0.906;MetaLR_pred=D;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=5.05;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.199;phastCons7way_vertebrate=0.978;phastCons20way_mammalian=0.998;SiPhy_29way_logOdds=14.955;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=2.445e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=8.946e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=2.703e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=3.231e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.667e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=10 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:101:0,48 . 3 46904812 43129;rs2233264 G A 200.00 . #_unique_end_positions=,52;#_unique_start_positions=,50;AC=2;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0371;AF_ESP_clinvar_20171029_hg19=,0.0167;AF_EXAC_clinvar_20171029_hg19=,0.01835;AF_TGP_clinvar_20171029_hg19=,0.0371;ALLELEID_clinvar_20171029_hg19=,52299;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0245;AN=2;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.25;CAF_dbsnp_common_v150_hg19_refseq=,0.9629|0.03714;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype;CLNHGVS_clinvar_20171029_hg19=,NC_000003.11:g.46904812G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:82342;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000258.2:c.69C>T;Coding_region_change_in_longest_transcript=,NM_000258.2:c.69C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1012;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0129;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,79;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,MYL3:4634;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:4634;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:4634;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:7584;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:7584;Homo_sapiens_refseq_GRCh37.p13_Genes=,MYL3;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_000258.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene7384;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna11104;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:160790;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:160790;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene7384;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,46904812;RS_dbsnp_common_v150_hg19_refseq=,2233264;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,103;Read_coverage=,193;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9994600046765825;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_000258.2;Reverse_read_coverage=,114;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0051;SF=28,39;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.97699|0.0230098;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050168000305150537100100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.0510204;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.00917431;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.0609756;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.0833333;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0581395;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0755814;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.0397727;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.04;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.028169;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.0174419;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0491071;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.003;db_xref=,GeneID:4634|HGNC:HGNC:7584|MIM:160790;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:01183;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_000258.2|HPRD:01183;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,myosin_light_chain_3;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MYL3;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MYL3;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMH8|MLC-lV/sb|MLC1SB|MLC1V|VLC1|VLCl;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,myosin_light_chain_3;transcript_id=,NM_000258.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYL3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYL3:NM_000258:exon1:c.C69T:p.P23P;cytoBand=3p21.31;genomicSuperDups=.;esp6500siv2_all=0.0167;esp6500siv2_ea=0.0074;esp6500siv2_all=0.0167;esp6500siv2_ea=0.0074;1000g2015aug_all=0.0371406;avsnp147=rs2233264;Kaviar_AF=0.0175095;Kaviar_AC=2707;Kaviar_AN=154602;ExAC_ALL=0.0184;ExAC_AFR=0.0327;ExAC_AMR=0.0263;ExAC_EAS=0.0900;ExAC_FIN=0.0296;ExAC_NFE=0.0066;ExAC_OTH=0.0220;ExAC_SAS=0.0091;CLNALLELEID=52299;CLNDN=Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_8|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837471,OMIM:608751|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0200;gnomAD_exome_AFR=0.0338;gnomAD_exome_AMR=0.0250;gnomAD_exome_ASJ=0.0066;gnomAD_exome_EAS=0.0924;gnomAD_exome_FIN=0.0377;gnomAD_exome_NFE=0.0065;gnomAD_exome_OTH=0.0115;gnomAD_exome_SAS=0.0087;gnomAD_genome_ALL=0.0228;gnomAD_genome_AFR=0.0353;gnomAD_genome_AMR=0.0251;gnomAD_genome_ASJ=0.0099;gnomAD_genome_EAS=0.0801;gnomAD_genome_FIN=0.0329;gnomAD_genome_NFE=0.0075;gnomAD_genome_OTH=0.0183;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:172:0,92 . . . . . . . . . . 1:139:0,70 . . 3 57882601 rs17058639 C T 67.28 . #_unique_end_positions=,10;#_unique_start_positions=,10;AC=24;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1218;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3429;AN=24;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.7005|0.2995;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001304420.2:c.1392C>T|_NM_001304421.2:c.1278C>T|_NM_001304422.2:c.-7C>T|_NM_001304423.2:c.-7C>T|_NM_001311178.1:c.-7C>T|_NM_001311179.1:c.-7C>T|_NM_007159.4:c.1341C>T;Coding_region_change_in_longest_transcript=,NM_001304420.2:c.1392C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4752;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2654;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,16;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,SLMAP:7871;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7871;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7871;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:16643;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:16643;Homo_sapiens_refseq_GRCh37.p13_Genes=,SLMAP;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001304421.2|NM_007159.4|NM_001304420.2|NM_001311179.1|NM_001304423.2|NM_001304422.2|NM_001311178.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene7648;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna11620|rna11619|rna11618|rna11624|rna11623|rna11622|rna11621;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:602701;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:602701;Non-synonymous=,No;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene7648;QUAL=,75.09984379305371;R3_dbsnp_common_v150_hg19_refseq=,R3;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,57882601;RS_dbsnp_common_v150_hg19_refseq=,17058639;Read_count=,12;Read_coverage=,22;Read_direction_test_probability=,0.9999509815935982;Read_position_test_probability=,0.9267068789727944;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001304421.2|NM_007159.4|NM_001304420.2|NM_001311179.1|NM_001304423.2|NM_001304422.2|NM_001311178.1;Reverse_read_coverage=,6;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3630;SF=1,2,7,8,9,10,11,12,14,17,18,19,20,24,25,29,32,36,37;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.766399|0.233601;U5_dbsnp_common_v150_hg19_refseq=,U5;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05032844030517053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.183673;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.266667;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.5;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.470238;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.340909;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.511111;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.544444;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.0555556;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.36;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.122378;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.261364;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.191667;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:7871|HGNC:HGNC:16643|MIM:602701;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001304421.2|Genbank:NM_007159.4|Genbank:NM_001304420.2|Genbank:NM_001311179.1|Genbank:NM_001304423.2|Genbank:NM_001304422.2|Genbank:NM_001311178.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,sarcolemma_associated_protein;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SLMAP;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SLMAP;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SLAP;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,sarcolemma_associated_protein|_transcript_variant_3|sarcolemma_associated_protein|_transcript_variant_2|sarcolemma_associated_protein|_transcript_variant_1|sarcolemma_associated_protein|_transcript_variant_7|sarcolemma_associated_protein|_transcript_variant_5|sarcolemma_associated_protein|_transcript_variant_4|sarcolemma_associated_protein|_transcript_variant_6;transcript_id=,NM_001304421.2|NM_007159.4|NM_001304420.2|NM_001311179.1|NM_001304423.2|NM_001304422.2|NM_001311178.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SLMAP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SLMAP:NM_001304421:exon13:c.C1278T:p.D426D,SLMAP:NM_007159:exon14:c.C1341T:p.D447D,SLMAP:NM_001304420:exon15:c.C1392T:p.D464D;cytoBand=3p14.3;genomicSuperDups=.;esp6500siv2_all=0.2108;esp6500siv2_ea=0.2420;esp6500siv2_all=0.2108;esp6500siv2_ea=0.2420;1000g2015aug_all=0.299521;avsnp147=rs17058639;Kaviar_AF=0.279466;Kaviar_AC=43206;Kaviar_AN=154602;ExAC_ALL=0.2959;ExAC_AFR=0.1563;ExAC_AMR=0.3624;ExAC_EAS=0.4884;ExAC_FIN=0.2989;ExAC_NFE=0.2669;ExAC_OTH=0.2938;ExAC_SAS=0.3540;CLNALLELEID=500813;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.3946;dpsi_zscore=1.730;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2978;gnomAD_exome_AFR=0.1545;gnomAD_exome_AMR=0.3616;gnomAD_exome_ASJ=0.3445;gnomAD_exome_EAS=0.4801;gnomAD_exome_FIN=0.2951;gnomAD_exome_NFE=0.2560;gnomAD_exome_OTH=0.3089;gnomAD_exome_SAS=0.3421;gnomAD_genome_ALL=0.2427;gnomAD_genome_AFR=0.1581;gnomAD_genome_AMR=0.3325;gnomAD_genome_ASJ=0.3767;gnomAD_genome_EAS=0.4670;gnomAD_genome_FIN=0.2784;gnomAD_genome_NFE=0.2499;gnomAD_genome_OTH=0.2736;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . 1:19:0,10 1/1:18:0,18 . . . . 1:15:0,3 1:17:0,10 1:25:0,12 1:23:0,12 1:16:0,7 1:20:0,8 . 1/1:23:0,23 . . 1:38:0,16 1:15:0,5 1/1:13:0,13 1:25:0,11 . . . 1/1:16:0,16 1:16:0,5 . . . 1:29:0,13 . . 1/1:12:0,12 . . . 1:19:0,9 1:17:0,4 . . . . 3 57898376 240722;rs35219531 T A 106.91 . #_unique_end_positions=,17;#_unique_start_positions=,19;AC=2;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0008;AF_ESP_clinvar_20171029_hg19=,0.0222;AF_EXAC_clinvar_20171029_hg19=,0.01779;AF_TGP_clinvar_20171029_hg19=,0.0072;ALLELEID_clinvar_20171029_hg19=,239292;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0029;AN=2;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.9928|0.007188;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1142166|Orphanet:ORPHA130|SNOMED_CT:418818005;CLNDN_clinvar_20171029_hg19=,Brugada_syndrome;CLNHGVS_clinvar_20171029_hg19=,NC_000003.11:g.57898376T>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_single_submitter;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001304420.2:c.1917T>A|_NM_001304421.2:c.1803T>A|_NM_001304422.2:c.519T>A|_NM_001304423.2:c.321T>A|_NM_001311178.1:c.519T>A|_NM_001311179.1:c.396T>A|_NM_007159.4:c.1866T>A;Coding_region_change_in_longest_transcript=,NM_001304420.2:c.1917T>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0308;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,17;GENEINFO_dbsnp_common_v150_hg19_refseq=,SLMAP:7871;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7871;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7871;Genotype=,A/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:16643;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:16643;Homo_sapiens_refseq_GRCh37.p13_Genes=,SLMAP;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001304421.2|NM_007159.4|NM_001304420.2|NM_001311179.1|NM_001304423.2|NM_001304422.2|NM_001311178.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene7648;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna11620|rna11619|rna11618|rna11624|rna11623|rna11622|rna11621;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:602701;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:602701;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene7648;QUAL=,142.22196010368035;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,57898376;RS_dbsnp_common_v150_hg19_refseq=,35219531;Read_count=,22;Read_coverage=,53;Read_direction_test_probability=,0.6662749425734509;Read_position_test_probability=,0.9747190778490521;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001304421.2|NM_007159.4|NM_001304420.2|NM_001311179.1|NM_001304423.2|NM_001304422.2|NM_001311178.1;Reverse_read_coverage=,36;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0020;SF=16,26;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.986812|0.0131877;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050300000305040436000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.998;db_xref=,GeneID:7871|HGNC:HGNC:16643|MIM:602701;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001304421.2|Genbank:NM_007159.4|Genbank:NM_001304420.2|Genbank:NM_001311179.1|Genbank:NM_001304423.2|Genbank:NM_001304422.2|Genbank:NM_001311178.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,sarcolemma_associated_protein;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SLMAP;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SLMAP;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SLAP;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,sarcolemma_associated_protein|_transcript_variant_3|sarcolemma_associated_protein|_transcript_variant_2|sarcolemma_associated_protein|_transcript_variant_1|sarcolemma_associated_protein|_transcript_variant_7|sarcolemma_associated_protein|_transcript_variant_5|sarcolemma_associated_protein|_transcript_variant_4|sarcolemma_associated_protein|_transcript_variant_6;transcript_id=,NM_001304421.2|NM_007159.4|NM_001304420.2|NM_001311179.1|NM_001304423.2|NM_001304422.2|NM_001311178.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SLMAP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SLMAP:NM_001304423:exon4:c.T321A:p.L107L,SLMAP:NM_001311179:exon5:c.T396A:p.L132L,SLMAP:NM_001304422:exon6:c.T519A:p.L173L,SLMAP:NM_001311178:exon6:c.T519A:p.L173L,SLMAP:NM_001304421:exon16:c.T1803A:p.L601L,SLMAP:NM_007159:exon17:c.T1866A:p.L622L,SLMAP:NM_001304420:exon18:c.T1917A:p.L639L;cytoBand=3p14.3;genomicSuperDups=.;esp6500siv2_all=0.0222;esp6500siv2_ea=0.0320;esp6500siv2_all=0.0222;esp6500siv2_ea=0.0320;1000g2015aug_all=0.0071885;avsnp147=rs35219531;Kaviar_AF=0.0167268;Kaviar_AC=2586;Kaviar_AN=154602;ExAC_ALL=0.0178;ExAC_AFR=0.0043;ExAC_AMR=0.0071;ExAC_EAS=0;ExAC_FIN=0.0086;ExAC_NFE=0.0282;ExAC_OTH=0.0111;ExAC_SAS=0.0053;CLNALLELEID=239292;CLNDN=Brugada_syndrome;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.3555;dpsi_zscore=0.966;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0166;gnomAD_exome_AFR=0.0043;gnomAD_exome_AMR=0.0061;gnomAD_exome_ASJ=0.0038;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0108;gnomAD_exome_NFE=0.0294;gnomAD_exome_OTH=0.0121;gnomAD_exome_SAS=0.0059;gnomAD_genome_ALL=0.0159;gnomAD_genome_AFR=0.0061;gnomAD_genome_AMR=0.0131;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0089;gnomAD_genome_NFE=0.0254;gnomAD_genome_OTH=0.0132;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . 1:49:0,21 . . . . . . . . . 1:56:0,17 . . . . . . . . . . . . . . . 3 57902639 416635;rs17745496 G A 44.20 . #_unique_end_positions=,8;#_unique_start_positions=,9;AC=2;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0023;ALLELEID_clinvar_20171029_hg19=,394180;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0259;AN=2;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.37;CAF_dbsnp_common_v150_hg19_refseq=,0.9866|0.01338;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1142166|Orphanet:ORPHA130|SNOMED_CT:418818005;CLNDN_clinvar_20171029_hg19=,Brugada_syndrome;CLNHGVS_clinvar_20171029_hg19=,NC_000003.11:g.57902639G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_single_submitter;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001304420.2:c.2094G>A|_NM_001304421.2:c.1980G>A|_NM_001304422.2:c.696G>A|_NM_001304423.2:c.498G>A|_NM_001311178.1:c.696G>A|_NM_001311179.1:c.573G>A|_NM_007159.4:c.2043G>A;Coding_region_change_in_longest_transcript=,NM_001304420.2:c.2094G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0388;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,14;GENEINFO_dbsnp_common_v150_hg19_refseq=,SLMAP:7871;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7871;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7871;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:16643;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:16643;Homo_sapiens_refseq_GRCh37.p13_Genes=,SLMAP;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001304421.2|NM_007159.4|NM_001304420.2|NM_001311179.1|NM_001304423.2|NM_001304422.2|NM_001311178.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene7648;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna11620|rna11619|rna11618|rna11624|rna11623|rna11622|rna11621;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:602701;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:602701;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene7648;QUAL=,58.16570162208616;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,57902639;RS_dbsnp_common_v150_hg19_refseq=,17745496;Read_count=,9;Read_coverage=,17;Read_direction_test_probability=,0.9529062257289607;Read_position_test_probability=,0.540003367572089;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001304421.2|NM_007159.4|NM_001304420.2|NM_001311179.1|NM_001304423.2|NM_001304422.2|NM_001311178.1;Reverse_read_coverage=,3;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0072;SF=22,28;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.981455|0.0185452;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050300000305140537000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.0102041;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0221239;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.00568182;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.01;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.0454545;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:7871|HGNC:HGNC:16643|MIM:602701;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001304421.2|Genbank:NM_007159.4|Genbank:NM_001304420.2|Genbank:NM_001311179.1|Genbank:NM_001304423.2|Genbank:NM_001304422.2|Genbank:NM_001311178.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,sarcolemma_associated_protein;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SLMAP;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SLMAP;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SLAP;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,sarcolemma_associated_protein|_transcript_variant_3|sarcolemma_associated_protein|_transcript_variant_2|sarcolemma_associated_protein|_transcript_variant_1|sarcolemma_associated_protein|_transcript_variant_7|sarcolemma_associated_protein|_transcript_variant_5|sarcolemma_associated_protein|_transcript_variant_4|sarcolemma_associated_protein|_transcript_variant_6;transcript_id=,NM_001304421.2|NM_007159.4|NM_001304420.2|NM_001311179.1|NM_001304423.2|NM_001304422.2|NM_001311178.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SLMAP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SLMAP:NM_001304423:exon6:c.G498A:p.Q166Q,SLMAP:NM_001311179:exon7:c.G573A:p.Q191Q,SLMAP:NM_001304422:exon8:c.G696A:p.Q232Q,SLMAP:NM_001311178:exon8:c.G696A:p.Q232Q,SLMAP:NM_001304421:exon18:c.G1980A:p.Q660Q,SLMAP:NM_007159:exon19:c.G2043A:p.Q681Q,SLMAP:NM_001304420:exon20:c.G2094A:p.Q698Q;cytoBand=3p14.3;genomicSuperDups=.;esp6500siv2_all=0.0229;esp6500siv2_ea=0.0322;esp6500siv2_all=0.0229;esp6500siv2_ea=0.0322;1000g2015aug_all=0.0133786;avsnp147=rs17745496;Kaviar_AF=0.0233244;Kaviar_AC=3606;Kaviar_AN=154602;ExAC_ALL=0.0233;ExAC_AFR=0.0042;ExAC_AMR=0.0145;ExAC_EAS=0.0001;ExAC_FIN=0.0243;ExAC_NFE=0.0334;ExAC_OTH=0.0189;ExAC_SAS=0.0127;CLNALLELEID=394180;CLNDN=Brugada_syndrome;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0697;dpsi_zscore=0.380;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0239;gnomAD_exome_AFR=0.0043;gnomAD_exome_AMR=0.0184;gnomAD_exome_ASJ=0.0481;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0.0244;gnomAD_exome_NFE=0.0327;gnomAD_exome_OTH=0.0294;gnomAD_exome_SAS=0.0123;gnomAD_genome_ALL=0.0223;gnomAD_genome_AFR=0.0041;gnomAD_genome_AMR=0.0263;gnomAD_genome_ASJ=0.0530;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0261;gnomAD_genome_NFE=0.033;gnomAD_genome_OTH=0.0296;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . 1:16:0,9 . . . . . 1:21:0,6 . . . . . . . . . . . . . 3 57908707 rs142778041 A G 107.58 . #_unique_end_positions=,12;#_unique_start_positions=,12;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0014;AN=1;Amino_acid_change=,NP_001291350.1:p.Gln746Arg|_NP_001291349.1:p.Gln784Arg|_NP_001291351.1:p.Gln318Arg|_NP_009090.2:p.Gln767Arg|_NP_001298107.1:p.Gln318Arg|_NP_001291352.1:p.Gln252Arg;Amino_acid_change_in_longest_transcript=,NP_001291349.1:p.Gln784Arg;BaseQRankSum=,0.0;Coding_region_change=,NM_001304420.2:c.2351A>G|_NM_001304421.2:c.2237A>G|_NM_001304422.2:c.953A>G|_NM_001304423.2:c.755A>G|_NM_001311178.1:c.953A>G|_NM_007159.4:c.2300A>G;Coding_region_change_in_longest_transcript=,NM_001304420.2:c.2351A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;Exact_match=,1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,14;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7871;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7871;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:16643;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:16643;Homo_sapiens_refseq_GRCh37.p13_Genes=,SLMAP;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001304421.2|NM_007159.4|NM_001304420.2|NM_001304423.2|NM_001304422.2|NM_001311178.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene7648;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna11620|rna11619|rna11618|rna11623|rna11622|rna11621;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:602701;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:602701;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene7648;QUAL=,107.57612634815885;Read_count=,17;Read_coverage=,31;Read_direction_test_probability=,0.7531050099372842;Read_position_test_probability=,0.7127451989811239;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001304421.2|NM_007159.4|NM_001304420.2|NM_001304423.2|NM_001304422.2|NM_001311178.1;Reverse_read_coverage=,17;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=31;conservation_score=,1.0;db_xref=,GeneID:7871|HGNC:HGNC:16643|MIM:602701;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001304421.2|Genbank:NM_007159.4|Genbank:NM_001304420.2|Genbank:NM_001304423.2|Genbank:NM_001304422.2|Genbank:NM_001311178.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,sarcolemma_associated_protein;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SLMAP;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SLMAP;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SLAP;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,sarcolemma_associated_protein|_transcript_variant_3|sarcolemma_associated_protein|_transcript_variant_2|sarcolemma_associated_protein|_transcript_variant_1|sarcolemma_associated_protein|_transcript_variant_5|sarcolemma_associated_protein|_transcript_variant_4|sarcolemma_associated_protein|_transcript_variant_6;transcript_id=,NM_001304421.2|NM_007159.4|NM_001304420.2|NM_001304423.2|NM_001304422.2|NM_001311178.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SLMAP;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SLMAP:NM_001304423:exon7:c.A755G:p.Q252R,SLMAP:NM_001304422:exon9:c.A953G:p.Q318R,SLMAP:NM_001311178:exon9:c.A953G:p.Q318R,SLMAP:NM_001304421:exon19:c.A2237G:p.Q746R,SLMAP:NM_007159:exon20:c.A2300G:p.Q767R,SLMAP:NM_001304420:exon21:c.A2351G:p.Q784R;cytoBand=3p14.3;genomicSuperDups=.;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=0.000199681;avsnp147=rs142778041;Kaviar_AF=0.0001164;Kaviar_AC=18;Kaviar_AN=154602;ExAC_ALL=0.0001;ExAC_AFR=9.621e-05;ExAC_AMR=0.0004;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0001;ExAC_OTH=0;ExAC_SAS=0.0001;CLNALLELEID=519857;CLNDN=Brugada_syndrome;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.015;SIFT_pred=D;Polyphen2_HDIV_score=0.997;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.993;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=2.095;MutationAssessor_pred=M;FATHMM_score=0.65;FATHMM_pred=T;PROVEAN_score=-1.1;PROVEAN_pred=N;VEST3_score=0.339;CADD_raw=2.207;CADD_phred=17.56;DANN_score=0.999;fathmm-MKL_coding_score=0.984;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.422;MetaSVM_pred=T;MetaLR_score=0.366;MetaLR_pred=T;integrated_fitCons_score=0.732;integrated_confidence_value=0;GERP++_RS=6.17;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.199;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=0.997;SiPhy_29way_logOdds=16.822;GDI_full_10282015=.;dpsi_max_tissue=1.4557;dpsi_zscore=1.760;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0001;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0005;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0001;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=9.748e-05;gnomAD_genome_ALL=6.455e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.66e-05;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:30:0,16 . . . . . . . . . . 3 196771513 rs34492126 G A 80.45 . #_unique_end_positions=,10;#_unique_start_positions=,7;AC=3;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0030;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0303;AN=3;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001277912.1:p.Pro899Leu|_NP_001191316.1:p.Pro795Leu|_NP_001191317.1:p.Pro783Leu|_NP_004078.2:p.Pro921Leu|_NP_001191315.1:p.Pro887Leu|_NP_001091894.1:p.Pro899Leu;Amino_acid_change_in_longest_transcript=,NP_001277912.1:p.Pro899Leu;BaseQRankSum=,0.48;CAF_dbsnp_common_v150_hg19_refseq=,0.9748|0.02516;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001098424.1:c.2696C>T|_NM_001204386.1:c.2660C>T|_NM_001204387.1:c.2384C>T|_NM_001204388.1:c.2348C>T|_NM_001290983.1:c.2696C>T|_NM_004087.2:c.2762C>T;Coding_region_change_in_longest_transcript=,NM_001290983.1:c.2696C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0577;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,12;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,DLG1:1739;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:1739;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:1739;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:2900;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:2900;Homo_sapiens_refseq_GRCh37.p13_Genes=,DLG1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001204388.1|NM_001204387.1|NM_001204386.1|NM_001098424.1|NM_004087.2|NM_001290983.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene9138;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna13611|rna13612|rna13608|rna13609|rna13610|rna13607;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:601014;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:601014;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene9138;QUAL=,62.50120323939846;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,196771513;RS_dbsnp_common_v150_hg19_refseq=,34492126;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,12;Read_coverage=,36;Read_direction_test_probability=,0.9506080855635665;Read_position_test_probability=,0.9825067684295918;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001204388.1|NM_001204387.1|NM_001204386.1|NM_001098424.1|NM_004087.2|NM_001290983.1;Reverse_read_coverage=,24;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0440;SF=0,20,40;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.976475|0.023525;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050300000a05150536000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0583333;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:1739|HGNC:HGNC:2900|MIM:601014;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001204388.1|Genbank:NM_001204387.1|Genbank:NM_001204386.1|Genbank:NM_001098424.1|Genbank:NM_004087.2|Genbank:NM_001290983.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,discs_large_MAGUK_scaffold_protein_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,DLG1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,DLG1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,dJ1061C18.1.1|DLGH1|hdlg|SAP-97|SAP97;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,discs_large_MAGUK_scaffold_protein_1|_transcript_variant_5|discs_large_MAGUK_scaffold_protein_1|_transcript_variant_4|discs_large_MAGUK_scaffold_protein_1|_transcript_variant_3|discs_large_MAGUK_scaffold_protein_1|_transcript_variant_1|discs_large_MAGUK_scaffold_protein_1|_transcript_variant_2|discs_large_MAGUK_scaffold_protein_1|_transcript_variant_6;transcript_id=,NM_001204388.1|NM_001204387.1|NM_001204386.1|NM_001098424.1|NM_004087.2|NM_001290983.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DLG1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DLG1:NM_001204388:exon21:c.C2348T:p.P783L,DLG1:NM_001204387:exon22:c.C2384T:p.P795L,DLG1:NM_001204386:exon25:c.C2660T:p.P887L,DLG1:NM_001098424:exon26:c.C2696T:p.P899L,DLG1:NM_001290983:exon26:c.C2696T:p.P899L,DLG1:NM_004087:exon26:c.C2762T:p.P921L;cytoBand=3q29;genomicSuperDups=.;esp6500siv2_all=0.0355;esp6500siv2_ea=0.0471;esp6500siv2_all=0.0355;esp6500siv2_ea=0.0471;1000g2015aug_all=0.0251597;avsnp147=rs34492126;Kaviar_AF=0.0422634;Kaviar_AC=6534;Kaviar_AN=154602;ExAC_ALL=0.0435;ExAC_AFR=0.0078;ExAC_AMR=0.0174;ExAC_EAS=0.0007;ExAC_FIN=0.0722;ExAC_NFE=0.0535;ExAC_OTH=0.0530;ExAC_SAS=0.0544;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.005;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.931;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.9;MutationAssessor_pred=M;FATHMM_score=1.09;FATHMM_pred=T;PROVEAN_score=-8.73;PROVEAN_pred=D;VEST3_score=0.431;CADD_raw=4.635;CADD_phred=24.5;DANN_score=0.999;fathmm-MKL_coding_score=0.983;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.729;MetaSVM_pred=T;MetaLR_score=0.053;MetaLR_pred=T;integrated_fitCons_score=0.732;integrated_confidence_value=0;GERP++_RS=5.48;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.997;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=18.340;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM161902#"Macrocephaly_autism_epilepsy_phenotype";gnomAD_exome_ALL=0.0420;gnomAD_exome_AFR=0.0061;gnomAD_exome_AMR=0.0182;gnomAD_exome_ASJ=0.0492;gnomAD_exome_EAS=0.0009;gnomAD_exome_FIN=0.0743;gnomAD_exome_NFE=0.0510;gnomAD_exome_OTH=0.0390;gnomAD_exome_SAS=0.0504;gnomAD_genome_ALL=0.0415;gnomAD_genome_AFR=0.0089;gnomAD_genome_AMR=0.0298;gnomAD_genome_ASJ=0.0497;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0799;gnomAD_genome_NFE=0.0556;gnomAD_genome_OTH=0.0524;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:28:0,10 . . . . . . . . . . . . . . . . . . . 1:40:0,16 . . . . . . . . . . . . . . . . . . . 1:24:0,10 . 3 196771554 rs35370245 T C 99.29 . #_unique_end_positions=,11;#_unique_start_positions=,7;AC=3;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0030;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0303;AN=3;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.84;CAF_dbsnp_common_v150_hg19_refseq=,0.9746|0.02536;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001098424.1:c.2655A>G|_NM_001204386.1:c.2619A>G|_NM_001204387.1:c.2343A>G|_NM_001204388.1:c.2307A>G|_NM_001290983.1:c.2655A>G|_NM_004087.2:c.2721A>G;Coding_region_change_in_longest_transcript=,NM_001290983.1:c.2655A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0577;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI;Forward_read_coverage=,10;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,DLG1:1739;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:1739;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:1739;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:2900;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:2900;Homo_sapiens_refseq_GRCh37.p13_Genes=,DLG1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001204388.1|NM_001204387.1|NM_001204386.1|NM_001098424.1|NM_004087.2|NM_001290983.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene9138;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna13611|rna13612|rna13608|rna13609|rna13610|rna13607;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:601014;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:601014;Non-synonymous=,No;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene9138;QUAL=,61.86227559669131;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,196771554;RS_dbsnp_common_v150_hg19_refseq=,35370245;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,11;Read_coverage=,38;Read_direction_test_probability=,0.9365851095319979;Read_position_test_probability=,0.8637880888974688;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001204388.1|NM_001204387.1|NM_001204386.1|NM_001098424.1|NM_004087.2|NM_001290983.1;Reverse_read_coverage=,28;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0440;SF=0,20,40;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.976406|0.0235937;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050300000305150537000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.0102041;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.0454545;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.03;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.0174825;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.0340909;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.992;db_xref=,GeneID:1739|HGNC:HGNC:2900|MIM:601014;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001204388.1|Genbank:NM_001204387.1|Genbank:NM_001204386.1|Genbank:NM_001098424.1|Genbank:NM_004087.2|Genbank:NM_001290983.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,discs_large_MAGUK_scaffold_protein_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,DLG1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,DLG1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,dJ1061C18.1.1|DLGH1|hdlg|SAP-97|SAP97;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,discs_large_MAGUK_scaffold_protein_1|_transcript_variant_5|discs_large_MAGUK_scaffold_protein_1|_transcript_variant_4|discs_large_MAGUK_scaffold_protein_1|_transcript_variant_3|discs_large_MAGUK_scaffold_protein_1|_transcript_variant_1|discs_large_MAGUK_scaffold_protein_1|_transcript_variant_2|discs_large_MAGUK_scaffold_protein_1|_transcript_variant_6;transcript_id=,NM_001204388.1|NM_001204387.1|NM_001204386.1|NM_001098424.1|NM_004087.2|NM_001290983.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DLG1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DLG1:NM_001204388:exon21:c.A2307G:p.K769K,DLG1:NM_001204387:exon22:c.A2343G:p.K781K,DLG1:NM_001204386:exon25:c.A2619G:p.K873K,DLG1:NM_001098424:exon26:c.A2655G:p.K885K,DLG1:NM_001290983:exon26:c.A2655G:p.K885K,DLG1:NM_004087:exon26:c.A2721G:p.K907K;cytoBand=3q29;genomicSuperDups=.;esp6500siv2_all=0.0354;esp6500siv2_ea=0.0470;esp6500siv2_all=0.0354;esp6500siv2_ea=0.0470;1000g2015aug_all=0.0253594;avsnp147=rs35370245;Kaviar_AF=0.0422634;Kaviar_AC=6534;Kaviar_AN=154602;ExAC_ALL=0.0435;ExAC_AFR=0.0078;ExAC_AMR=0.0174;ExAC_EAS=0.0001;ExAC_FIN=0.0722;ExAC_NFE=0.0535;ExAC_OTH=0.0530;ExAC_SAS=0.0544;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0426;gnomAD_exome_AFR=0.0064;gnomAD_exome_AMR=0.0184;gnomAD_exome_ASJ=0.0495;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0.0745;gnomAD_exome_NFE=0.0517;gnomAD_exome_OTH=0.0404;gnomAD_exome_SAS=0.0521;gnomAD_genome_ALL=0.0415;gnomAD_genome_AFR=0.0089;gnomAD_genome_AMR=0.0298;gnomAD_genome_ASJ=0.0497;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0797;gnomAD_genome_NFE=0.0557;gnomAD_genome_OTH=0.0521;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:33:0,11 . . . . . . . . . . . . . . . . . . . 1:44:0,20 . . . . . . . . . . . . . . . . . . . 1:23:0,11 . 3 196792163 rs78190191 C T 114.54 . #_unique_end_positions=,19;#_unique_start_positions=,16;AC=2;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0072;AN=2;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001091894.1:p.Arg797Gln|_NP_004078.2:p.Arg819Gln|_NP_001277912.1:p.Arg797Gln|_NP_001191317.1:p.Arg681Gln|_NP_001191315.1:p.Arg785Gln|_NP_001191316.1:p.Arg693Gln;Amino_acid_change_in_longest_transcript=,NP_001277912.1:p.Arg797Gln;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.9958|0.004193;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001098424.1:c.2390G>A|_NM_001204386.1:c.2354G>A|_NM_001204387.1:c.2078G>A|_NM_001204388.1:c.2042G>A|_NM_001290983.1:c.2390G>A|_NM_004087.2:c.2456G>A;Coding_region_change_in_longest_transcript=,NM_001290983.1:c.2390G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0139;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,35;GENEINFO_dbsnp_common_v150_hg19_refseq=,DLG1:1739;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:1739;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:1739;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:2900;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:2900;Homo_sapiens_refseq_GRCh37.p13_Genes=,DLG1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001204388.1|NM_001204387.1|NM_001204386.1|NM_001098424.1|NM_004087.2|NM_001290983.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene9138;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna13611|rna13612|rna13608|rna13609|rna13610|rna13607;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:601014;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:601014;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene9138;QUAL=,114.29467186032754;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,196792163;RS_dbsnp_common_v150_hg19_refseq=,78190191;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,24;Read_coverage=,62;Read_direction_test_probability=,0.9771467724500744;Read_position_test_probability=,0.9329670403101578;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001204388.1|NM_001204387.1|NM_001204386.1|NM_001098424.1|NM_004087.2|NM_001290983.1;Reverse_read_coverage=,27;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0020;SF=23,38;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.989354|0.0106463;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050300000a05040436000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:1739|HGNC:HGNC:2900|MIM:601014;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001204388.1|Genbank:NM_001204387.1|Genbank:NM_001204386.1|Genbank:NM_001098424.1|Genbank:NM_004087.2|Genbank:NM_001290983.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,discs_large_MAGUK_scaffold_protein_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,DLG1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,DLG1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,dJ1061C18.1.1|DLGH1|hdlg|SAP-97|SAP97;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,discs_large_MAGUK_scaffold_protein_1|_transcript_variant_5|discs_large_MAGUK_scaffold_protein_1|_transcript_variant_4|discs_large_MAGUK_scaffold_protein_1|_transcript_variant_3|discs_large_MAGUK_scaffold_protein_1|_transcript_variant_1|discs_large_MAGUK_scaffold_protein_1|_transcript_variant_2|discs_large_MAGUK_scaffold_protein_1|_transcript_variant_6;transcript_id=,NM_001204388.1|NM_001204387.1|NM_001204386.1|NM_001098424.1|NM_004087.2|NM_001290983.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DLG1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DLG1:NM_001204388:exon18:c.G2042A:p.R681Q,DLG1:NM_001204387:exon19:c.G2078A:p.R693Q,DLG1:NM_001204386:exon22:c.G2354A:p.R785Q,DLG1:NM_001098424:exon23:c.G2390A:p.R797Q,DLG1:NM_001290983:exon23:c.G2390A:p.R797Q,DLG1:NM_004087:exon23:c.G2456A:p.R819Q;cytoBand=3q29;genomicSuperDups=.;esp6500siv2_all=0.0183;esp6500siv2_ea=0.0245;esp6500siv2_all=0.0183;esp6500siv2_ea=0.0245;1000g2015aug_all=0.00419329;avsnp147=rs78190191;Kaviar_AF=0.0165781;Kaviar_AC=2563;Kaviar_AN=154602;ExAC_ALL=0.0173;ExAC_AFR=0.0040;ExAC_AMR=0.0052;ExAC_EAS=0.0003;ExAC_FIN=0.0268;ExAC_NFE=0.0247;ExAC_OTH=0.0235;ExAC_SAS=0.0085;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.167;SIFT_pred=T;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.716;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.999;MutationTaster_pred=D;MutationAssessor_score=1.365;MutationAssessor_pred=L;FATHMM_score=0.88;FATHMM_pred=T;PROVEAN_score=-2.85;PROVEAN_pred=D;VEST3_score=0.227;CADD_raw=7.123;CADD_phred=34;DANN_score=0.999;fathmm-MKL_coding_score=0.897;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.041;MetaSVM_pred=T;MetaLR_score=0.074;MetaLR_pred=T;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=5.32;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.892;phastCons7way_vertebrate=0.971;phastCons20way_mammalian=0.998;SiPhy_29way_logOdds=11.454;GDI_full_10282015=.;dpsi_max_tissue=0.0178;dpsi_zscore=0.121;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM161900#"Macrocephaly_autism-epilepsy_phenotype";gnomAD_exome_ALL=0.0166;gnomAD_exome_AFR=0.0032;gnomAD_exome_AMR=0.0050;gnomAD_exome_ASJ=0.0061;gnomAD_exome_EAS=5.916e-05;gnomAD_exome_FIN=0.0308;gnomAD_exome_NFE=0.0250;gnomAD_exome_OTH=0.0162;gnomAD_exome_SAS=0.0072;gnomAD_genome_ALL=0.0166;gnomAD_genome_AFR=0.0029;gnomAD_genome_AMR=0.0084;gnomAD_genome_ASJ=0.0099;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0264;gnomAD_genome_NFE=0.0240;gnomAD_genome_OTH=0.0286;Whole_Blood=.;Liver=Liver::0.0196078::0.791198;ALLELE_END;COSO_score=1 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . 1:55:0,20 . . . . . . . . . . . . . . 1:37:0,21 . . . 3 196807928 rs35430440 A C 127.68 . #_unique_end_positions=,16;#_unique_start_positions=,14;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0115;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001191317.1:p.Asp550Glu|_NP_001191315.1:p.Asp633Glu|_NP_001091894.1:p.Asp666Glu|_NP_001277912.1:p.Asp666Glu|_NP_004078.2:p.Asp666Glu|_NP_001191316.1:p.Asp550Glu;Amino_acid_change_in_longest_transcript=,NP_001277912.1:p.Asp666Glu;BaseQRankSum=,0.47;CAF_dbsnp_common_v150_hg19_refseq=,0.9944|0.005591;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001098424.1:c.1998T>G|_NM_001204386.1:c.1899T>G|_NM_001204387.1:c.1650T>G|_NM_001204388.1:c.1650T>G|_NM_001290983.1:c.1998T>G|_NM_004087.2:c.1998T>G;Coding_region_change_in_longest_transcript=,NM_001290983.1:c.1998T>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0199;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,29;GENEINFO_dbsnp_common_v150_hg19_refseq=,DLG1:1739;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:1739;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:1739;Genotype=,A/C;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:2900;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:2900;Homo_sapiens_refseq_GRCh37.p13_Genes=,DLG1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001204388.1|NM_001204387.1|NM_001204386.1|NM_001098424.1|NM_004087.2|NM_001290983.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene9138;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna13611|rna13612|rna13608|rna13609|rna13610|rna13607;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:601014;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:601014;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene9138;QUAL=,127.6763343472559;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,196807928;RS_dbsnp_common_v150_hg19_refseq=,35430440;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,24;Read_coverage=,50;Read_direction_test_probability=,0.9354267853189868;Read_position_test_probability=,0.9955944458654935;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001204388.1|NM_001204387.1|NM_001204386.1|NM_001098424.1|NM_004087.2|NM_001290983.1;Reverse_read_coverage=,21;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=16;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.992822|0.00717769;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050300000a05040536000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:1739|HGNC:HGNC:2900|MIM:601014;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001204388.1|Genbank:NM_001204387.1|Genbank:NM_001204386.1|Genbank:NM_001098424.1|Genbank:NM_004087.2|Genbank:NM_001290983.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,discs_large_MAGUK_scaffold_protein_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,DLG1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,DLG1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,dJ1061C18.1.1|DLGH1|hdlg|SAP-97|SAP97;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,discs_large_MAGUK_scaffold_protein_1|_transcript_variant_5|discs_large_MAGUK_scaffold_protein_1|_transcript_variant_4|discs_large_MAGUK_scaffold_protein_1|_transcript_variant_3|discs_large_MAGUK_scaffold_protein_1|_transcript_variant_1|discs_large_MAGUK_scaffold_protein_1|_transcript_variant_2|discs_large_MAGUK_scaffold_protein_1|_transcript_variant_6;transcript_id=,NM_001204388.1|NM_001204387.1|NM_001204386.1|NM_001098424.1|NM_004087.2|NM_001290983.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DLG1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DLG1:NM_001204387:exon13:c.T1650G:p.D550E,DLG1:NM_001204388:exon13:c.T1650G:p.D550E,DLG1:NM_001204386:exon17:c.T1899G:p.D633E,DLG1:NM_001098424:exon18:c.T1998G:p.D666E,DLG1:NM_001290983:exon18:c.T1998G:p.D666E,DLG1:NM_004087:exon18:c.T1998G:p.D666E;cytoBand=3q29;genomicSuperDups=.;esp6500siv2_all=0.01;esp6500siv2_ea=0.0134;esp6500siv2_all=0.01;esp6500siv2_ea=0.0134;1000g2015aug_all=0.00559105;avsnp147=rs35430440;Kaviar_AF=0.0076713;Kaviar_AC=1186;Kaviar_AN=154602;ExAC_ALL=0.0073;ExAC_AFR=0.0022;ExAC_AMR=0.0068;ExAC_EAS=0;ExAC_FIN=0.0056;ExAC_NFE=0.0109;ExAC_OTH=0.0056;ExAC_SAS=0.0009;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.194;SIFT_pred=T;Polyphen2_HDIV_score=0.004;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.02;Polyphen2_HVAR_pred=B;LRT_score=0.002;LRT_pred=N;MutationTaster_score=0.985;MutationTaster_pred=D;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=-1.6;FATHMM_pred=D;PROVEAN_score=-0.54;PROVEAN_pred=N;VEST3_score=0.029;CADD_raw=1.923;CADD_phred=15.73;DANN_score=0.978;fathmm-MKL_coding_score=0.568;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.903;MetaSVM_pred=T;MetaLR_score=0.118;MetaLR_pred=T;integrated_fitCons_score=0.732;integrated_confidence_value=0;GERP++_RS=2.47;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=0.157;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=0.999;SiPhy_29way_logOdds=4.871;GDI_full_10282015=.;dpsi_max_tissue=-1.1704;dpsi_zscore=-1.565;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0074;gnomAD_exome_AFR=0.0016;gnomAD_exome_AMR=0.0072;gnomAD_exome_ASJ=0.0030;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0046;gnomAD_exome_NFE=0.0119;gnomAD_exome_OTH=0.0095;gnomAD_exome_SAS=0.0009;gnomAD_genome_ALL=0.0065;gnomAD_genome_AFR=0.0018;gnomAD_genome_AMR=0.0072;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0040;gnomAD_genome_NFE=0.0103;gnomAD_genome_OTH=0.0072;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . 1:41:0,18 . . . . . . . . . . . . . . . . . . . . . . . . . 3 196865242 rs1134986 C T 55.66 . #_unique_end_positions=,5;#_unique_start_positions=,4;AC=14;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0106;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1225;AN=14;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001277912.1:p.Arg278Gln|_NP_001191317.1:p.Arg162Gln|_NP_001191316.1:p.Arg162Gln|_NP_001191315.1:p.Arg245Gln|_NP_004078.2:p.Arg278Gln|_NP_001091894.1:p.Arg278Gln;Amino_acid_change_in_longest_transcript=,NP_001277912.1:p.Arg278Gln;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.872|0.128;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001098424.1:c.833G>A|_NM_001204386.1:c.734G>A|_NM_001204387.1:c.485G>A|_NM_001204388.1:c.485G>A|_NM_001290983.1:c.833G>A|_NM_004087.2:c.833G>A;Coding_region_change_in_longest_transcript=,NM_001290983.1:c.833G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0714;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1441;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,3;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,DLG1:1739;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:1739;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:1739;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:2900;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:2900;Homo_sapiens_refseq_GRCh37.p13_Genes=,DLG1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001204388.1|NM_001204387.1|NM_001204386.1|NM_001098424.1|NM_004087.2|NM_001290983.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene9138;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna13611|rna13612|rna13608|rna13609|rna13610|rna13607;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:601014;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:601014;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene9138;QUAL=,42.51073534587337;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,196865242;RS_dbsnp_common_v150_hg19_refseq=,1134986;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,6;Read_coverage=,14;Read_direction_test_probability=,0.9912291663480387;Read_position_test_probability=,0.9806924205472403;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001204388.1|NM_001204387.1|NM_001204386.1|NM_001098424.1|NM_004087.2|NM_001290983.1;Reverse_read_coverage=,11;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3323;SF=0,3,8,10,18,21,28,29,31,32,36,37,40;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.908338|0.0916615;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050300000a0515053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.03125;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.183333;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.109756;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.0647059;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.357955;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0833333;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.111765;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.0444444;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.1;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.0944056;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.170455;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:1739|HGNC:HGNC:2900|MIM:601014;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001204388.1|Genbank:NM_001204387.1|Genbank:NM_001204386.1|Genbank:NM_001098424.1|Genbank:NM_004087.2|Genbank:NM_001290983.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,discs_large_MAGUK_scaffold_protein_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,DLG1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,DLG1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,dJ1061C18.1.1|DLGH1|hdlg|SAP-97|SAP97;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,discs_large_MAGUK_scaffold_protein_1|_transcript_variant_5|discs_large_MAGUK_scaffold_protein_1|_transcript_variant_4|discs_large_MAGUK_scaffold_protein_1|_transcript_variant_3|discs_large_MAGUK_scaffold_protein_1|_transcript_variant_1|discs_large_MAGUK_scaffold_protein_1|_transcript_variant_2|discs_large_MAGUK_scaffold_protein_1|_transcript_variant_6;transcript_id=,NM_001204388.1|NM_001204387.1|NM_001204386.1|NM_001098424.1|NM_004087.2|NM_001290983.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DLG1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DLG1:NM_001204387:exon5:c.G485A:p.R162Q,DLG1:NM_001204388:exon5:c.G485A:p.R162Q,DLG1:NM_001204386:exon9:c.G734A:p.R245Q,DLG1:NM_001098424:exon10:c.G833A:p.R278Q,DLG1:NM_001290983:exon10:c.G833A:p.R278Q,DLG1:NM_004087:exon10:c.G833A:p.R278Q;cytoBand=3q29;genomicSuperDups=.;esp6500siv2_all=0.1060;esp6500siv2_ea=0.1473;esp6500siv2_all=0.1060;esp6500siv2_ea=0.1473;1000g2015aug_all=0.127995;avsnp147=rs1134986;Kaviar_AF=0.149519;Kaviar_AC=23116;Kaviar_AN=154602;ExAC_ALL=0.1550;ExAC_AFR=0.0282;ExAC_AMR=0.1292;ExAC_EAS=0.0719;ExAC_FIN=0.1064;ExAC_NFE=0.1487;ExAC_OTH=0.1762;ExAC_SAS=0.3404;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.24;SIFT_pred=T;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.955;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=0.545;MutationAssessor_pred=N;FATHMM_score=1.74;FATHMM_pred=T;PROVEAN_score=-1.74;PROVEAN_pred=N;VEST3_score=0.554;CADD_raw=4.417;CADD_phred=24.2;DANN_score=0.999;fathmm-MKL_coding_score=0.986;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.128;MetaSVM_pred=T;MetaLR_score=0.001;MetaLR_pred=T;integrated_fitCons_score=0.732;integrated_confidence_value=0;GERP++_RS=5.31;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=18.317;GDI_full_10282015=.;dpsi_max_tissue=-0.0569;dpsi_zscore=-0.295;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM146495#"Crohn's_disease_susceptibility_to";gnomAD_exome_ALL=0.1565;gnomAD_exome_AFR=0.0258;gnomAD_exome_AMR=0.1308;gnomAD_exome_ASJ=0.2342;gnomAD_exome_EAS=0.0742;gnomAD_exome_FIN=0.1084;gnomAD_exome_NFE=0.1455;gnomAD_exome_OTH=0.1557;gnomAD_exome_SAS=0.3393;gnomAD_genome_ALL=0.0995;gnomAD_genome_AFR=0.0278;gnomAD_genome_AMR=0.1361;gnomAD_genome_ASJ=0.21;gnomAD_genome_EAS=0.0606;gnomAD_genome_FIN=0.1052;gnomAD_genome_NFE=0.1379;gnomAD_genome_OTH=0.1313;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:12:0,5 . . 1:12:0,6 . . . . 1:14:0,5 . 1:18:0,10 . . . . . . . 1:13:0,6 . . 1:12:0,7 . . . . . . 1/1:20:0,20 1:11:0,4 . 1:10:0,7 1:15:0,8 . . . 1:32:0,16 1:16:0,7 . . 1:17:0,6 . 3 196921360 rs1802668 T C 88.47 . #_unique_end_positions=,10;#_unique_start_positions=,9;AC=2;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0008;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0202;AN=2;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_004078.2:p.Lys140Arg|_NP_001277912.1:p.Lys140Arg|_NP_001191315.1:p.Lys140Arg|_NP_001091894.1:p.Lys140Arg;Amino_acid_change_in_longest_transcript=,NP_001277912.1:p.Lys140Arg;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.9854|0.01458;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001098424.1:c.419A>G|_NM_001204386.1:c.419A>G|_NM_001290983.1:c.419A>G|_NM_004087.2:c.419A>G;Coding_region_change_in_longest_transcript=,NM_001290983.1:c.419A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0487;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,11;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,DLG1:1739;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:1739;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:1739;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:2900;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:2900;Homo_sapiens_refseq_GRCh37.p13_Genes=,DLG1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001204386.1|NM_001098424.1|NM_004087.2|NM_001290983.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene9138;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna13608|rna13609|rna13610|rna13607;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:601014;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:601014;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene9138;QUAL=,82.17535837521521;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,196921360;RS_dbsnp_common_v150_hg19_refseq=,1802668;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,11;Read_coverage=,23;Read_direction_test_probability=,0.8348492730539059;Read_position_test_probability=,0.44169763440645093;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001204386.1|NM_001098424.1|NM_004087.2|NM_001290983.1;Reverse_read_coverage=,12;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0082;SF=10,40;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.974208|0.0257916;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050300000a05150537000101;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.0102041;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0583333;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.0060241;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.00568182;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.01;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.0568182;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:1739|HGNC:HGNC:2900|MIM:601014;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001204386.1|Genbank:NM_001098424.1|Genbank:NM_004087.2|Genbank:NM_001290983.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,discs_large_MAGUK_scaffold_protein_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,DLG1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,DLG1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,dJ1061C18.1.1|DLGH1|hdlg|SAP-97|SAP97;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,discs_large_MAGUK_scaffold_protein_1|_transcript_variant_3|discs_large_MAGUK_scaffold_protein_1|_transcript_variant_1|discs_large_MAGUK_scaffold_protein_1|_transcript_variant_2|discs_large_MAGUK_scaffold_protein_1|_transcript_variant_6;transcript_id=,NM_001204386.1|NM_001098424.1|NM_004087.2|NM_001290983.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DLG1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DLG1:NM_001098424:exon5:c.A419G:p.K140R,DLG1:NM_001204386:exon5:c.A419G:p.K140R,DLG1:NM_001290983:exon5:c.A419G:p.K140R,DLG1:NM_004087:exon5:c.A419G:p.K140R;cytoBand=3q29;genomicSuperDups=.;esp6500siv2_all=0.0314;esp6500siv2_ea=0.0443;esp6500siv2_all=0.0314;esp6500siv2_ea=0.0443;1000g2015aug_all=0.0145767;avsnp147=rs1802668;Kaviar_AF=0.0323476;Kaviar_AC=5001;Kaviar_AN=154602;ExAC_ALL=0.0327;ExAC_AFR=0.0084;ExAC_AMR=0.0219;ExAC_EAS=0.0002;ExAC_FIN=0.0475;ExAC_NFE=0.0470;ExAC_OTH=0.0489;ExAC_SAS=0.0082;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.338;SIFT_pred=T;Polyphen2_HDIV_score=0.014;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.043;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=1.385;MutationAssessor_pred=L;FATHMM_score=0.61;FATHMM_pred=T;PROVEAN_score=-0.33;PROVEAN_pred=N;VEST3_score=0.255;CADD_raw=2.040;CADD_phred=16.47;DANN_score=0.996;fathmm-MKL_coding_score=0.982;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.073;MetaSVM_pred=T;MetaLR_score=0.032;MetaLR_pred=T;integrated_fitCons_score=0.706;integrated_confidence_value=0;GERP++_RS=5.55;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=1.061;phastCons7way_vertebrate=0.994;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=14.867;GDI_full_10282015=.;dpsi_max_tissue=1.2408;dpsi_zscore=1.657;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0308;gnomAD_exome_AFR=0.0069;gnomAD_exome_AMR=0.0170;gnomAD_exome_ASJ=0.0277;gnomAD_exome_EAS=0.0003;gnomAD_exome_FIN=0.0477;gnomAD_exome_NFE=0.0453;gnomAD_exome_OTH=0.0357;gnomAD_exome_SAS=0.0085;gnomAD_genome_ALL=0.0343;gnomAD_genome_AFR=0.0073;gnomAD_genome_AMR=0.0263;gnomAD_genome_ASJ=0.0099;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0492;gnomAD_genome_NFE=0.0511;gnomAD_genome_OTH=0.0346;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . . 1:21:0,10 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:30:0,17 . 3 197009662 . C T 47.19 . #_unique_end_positions=,11;#_unique_start_positions=,8;AC=1;AN=1;Amino_acid_change=,NP_001277912.1:p.Arg69His|_NP_001191315.1:p.Arg69His|_NP_004078.2:p.Arg69His|_NP_001091894.1:p.Arg69His;Amino_acid_change_in_longest_transcript=,NP_001277912.1:p.Arg69His;BaseQRankSum=,-0.28;Coding_region_change=,NM_001098424.1:c.206G>A|_NM_001204386.1:c.206G>A|_NM_001290983.1:c.206G>A|_NM_004087.2:c.206G>A;Coding_region_change_in_longest_transcript=,NM_001290983.1:c.206G>A;Forward_read_coverage=,13;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:1739;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:1739;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:2900;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:2900;Homo_sapiens_refseq_GRCh37.p13_Genes=,DLG1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001204386.1|NM_001098424.1|NM_004087.2|NM_001290983.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene9138;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna13608|rna13609|rna13610|rna13607;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:601014;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:601014;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene9138;QUAL=,47.19452426123337;Read_count=,14;Read_coverage=,21;Read_direction_test_probability=,0.9485392345684822;Read_position_test_probability=,0.7728202709930294;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001204386.1|NM_001098424.1|NM_004087.2|NM_001290983.1;Reverse_read_coverage=,8;SF=29;conservation_score=,0.998;db_xref=,GeneID:1739|HGNC:HGNC:2900|MIM:601014;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001204386.1|Genbank:NM_001098424.1|Genbank:NM_004087.2|Genbank:NM_001290983.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,discs_large_MAGUK_scaffold_protein_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,DLG1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,DLG1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,dJ1061C18.1.1|DLGH1|hdlg|SAP-97|SAP97;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,discs_large_MAGUK_scaffold_protein_1|_transcript_variant_3|discs_large_MAGUK_scaffold_protein_1|_transcript_variant_1|discs_large_MAGUK_scaffold_protein_1|_transcript_variant_2|discs_large_MAGUK_scaffold_protein_1|_transcript_variant_6;transcript_id=,NM_001204386.1|NM_001098424.1|NM_004087.2|NM_001290983.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DLG1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DLG1:NM_001098424:exon4:c.G206A:p.R69H,DLG1:NM_001204386:exon4:c.G206A:p.R69H,DLG1:NM_001290983:exon4:c.G206A:p.R69H,DLG1:NM_004087:exon4:c.G206A:p.R69H;cytoBand=3q29;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs775132251;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;ExAC_ALL=1.649e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0.0001;ExAC_FIN=0;ExAC_NFE=1.5e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.841;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.518;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=N;MutationAssessor_score=-0.345;MutationAssessor_pred=N;FATHMM_score=2.64;FATHMM_pred=T;PROVEAN_score=0.33;PROVEAN_pred=N;VEST3_score=0.182;CADD_raw=2.951;CADD_phred=22.1;DANN_score=0.863;fathmm-MKL_coding_score=0.343;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.005;MetaSVM_pred=T;MetaLR_score=0.042;MetaLR_pred=T;integrated_fitCons_score=0.745;integrated_confidence_value=0;GERP++_RS=-0.056;phyloP7way_vertebrate=-0.379;phyloP20way_mammalian=0.049;phastCons7way_vertebrate=0.996;phastCons20way_mammalian=0.999;SiPhy_29way_logOdds=8.515;GDI_full_10282015=.;dpsi_max_tissue=-0.0551;dpsi_zscore=-0.287;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.094e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=5.859e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:20:0,13 . . . . . . . . . . . . 4 114163351 . G A 142.06 . #_unique_end_positions=,22;#_unique_start_positions=,20;AC=1;AN=1;Amino_acid_change=,NP_001139.3:p.Asp293Asn|_NP_066187.2:p.Asp293Asn|_NP_001120965.1:p.Asp272Asn;Amino_acid_change_in_longest_transcript=,NP_001139.3:p.Asp293Asn;BaseQRankSum=,0.0;Coding_region_change=,NM_001127493.1:c.814G>A|_NM_001148.4:c.877G>A|_NM_020977.3:c.877G>A;Coding_region_change_in_longest_transcript=,NM_001148.4:c.877G>A;Forward_read_coverage=,31;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:287;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:287;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:493;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:493;Homo_sapiens_refseq_GRCh37.p13_Genes=,ANK2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001127493.1|NM_020977.3|NM_001148.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene10303;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna15172|rna15174|rna15173;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:106410;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:106410;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene10303;QUAL=,142.06401743184801;Read_count=,25;Read_coverage=,48;Read_direction_test_probability=,0.9954284167026082;Read_position_test_probability=,0.8619439094188527;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001127493.1|NM_020977.3|NM_001148.4;Reverse_read_coverage=,17;SF=18;conservation_score=,0.997;db_xref=,GeneID:287|HGNC:HGNC:493|MIM:106410;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001127493.1|Genbank:NM_020977.3|Genbank:NM_001148.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ankyrin_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ANK2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,ANK2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ANK-2|brank-2|LQT4;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,ankyrin_2|_transcript_variant_3|ankyrin_2|_transcript_variant_2|ankyrin_2|_transcript_variant_1;transcript_id=,NM_001127493.1|NM_020977.3|NM_001148.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=ANK2:NM_001148:exon9:c.G877A:p.D293N,ANK2:NM_020977:exon9:c.G877A:p.D293N,ANK2:NM_001127493:exon10:c.G814A:p.D272N;cytoBand=4q26;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs752213208;Kaviar_AF=0.0001164;Kaviar_AC=18;Kaviar_AN=154602;ExAC_ALL=0.0001;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0.0001;ExAC_FIN=0.0003;ExAC_NFE=0.0001;ExAC_OTH=0;ExAC_SAS=0.0004;CLNALLELEID=519681;CLNDN=Long_QT_syndrome;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.253;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=1.0;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=-0.87;MutationAssessor_pred=N;FATHMM_score=2.66;FATHMM_pred=T;PROVEAN_score=-4.34;PROVEAN_pred=D;VEST3_score=0.137;CADD_raw=7.151;CADD_phred=34;DANN_score=0.999;fathmm-MKL_coding_score=0.991;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.515;MetaSVM_pred=T;MetaLR_score=0.214;MetaLR_pred=T;integrated_fitCons_score=0.563;integrated_confidence_value=0;GERP++_RS=4.64;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=0.996;SiPhy_29way_logOdds=14.428;GDI_full_10282015=.;dpsi_max_tissue=0.1393;dpsi_zscore=0.591;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0001;gnomAD_exome_AFR=6.535e-05;gnomAD_exome_AMR=2.982e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0001;gnomAD_exome_NFE=0.0001;gnomAD_exome_OTH=0.0004;gnomAD_exome_SAS=0.0002;gnomAD_genome_ALL=9.687e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0002;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=7 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . 1:41:0,22 . . . . . . . . . . . . . . . . . . . . . . . 4 114213631 263475;rs29341 C T 200.00 . #_unique_end_positions=,45;#_unique_start_positions=,43;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0325;AF_ESP_clinvar_20171029_hg19=,0.0332;AF_EXAC_clinvar_20171029_hg19=,0.03634;AF_TGP_clinvar_20171029_hg19=,0.0216;ALLELEID_clinvar_20171029_hg19=,258338;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0245;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.32;CAF_dbsnp_common_v150_hg19_refseq=,0.9784|0.02157;CLNDISDB_clinvar_20171029_hg19=,MeSH:D008133|MedGen:C0023976|SNOMED_CT:9651007|MedGen:CN230736;CLNDN_clinvar_20171029_hg19=,Long_QT_syndrome|Cardiovascular_phenotype;CLNHGVS_clinvar_20171029_hg19=,NC_000004.11:g.114213631C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:85922;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001127493.1:c.2274C>T|_NM_001148.4:c.2337C>T|_NM_020977.3:c.2337C>T;Coding_region_change_in_longest_transcript=,NM_001148.4:c.2337C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0368;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,112;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,ANK2:287;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:287;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:287;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:493;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:493;Homo_sapiens_refseq_GRCh37.p13_Genes=,ANK2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001127493.1|NM_020977.3|NM_001148.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene10303;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna15172|rna15174|rna15173;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:106410;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:106410;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene10303;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,114213631;RS_dbsnp_common_v150_hg19_refseq=,29341;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,86;Read_coverage=,176;Read_direction_test_probability=,0.8489809636806895;Read_position_test_probability=,0.5697103252130089;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001127493.1|NM_020977.3|NM_001148.4;Reverse_read_coverage=,64;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0112;SF=12;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.969435|0.0305653;TPA_dbsnp_common_v150_hg19_refseq=,TPA;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050310000305150537000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0416667;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.00833333;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.997;db_xref=,GeneID:287|HGNC:HGNC:493|MIM:106410;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001127493.1|Genbank:NM_020977.3|Genbank:NM_001148.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ankyrin_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ANK2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,ANK2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ANK-2|brank-2|LQT4;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,ankyrin_2|_transcript_variant_3|ankyrin_2|_transcript_variant_2|ankyrin_2|_transcript_variant_1;transcript_id=,NM_001127493.1|NM_020977.3|NM_001148.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ANK2:NM_001148:exon21:c.C2337T:p.V779V,ANK2:NM_020977:exon21:c.C2337T:p.V779V,ANK2:NM_001127493:exon22:c.C2274T:p.V758V;cytoBand=4q26;genomicSuperDups=.;esp6500siv2_all=0.0332;esp6500siv2_ea=0.0366;esp6500siv2_all=0.0332;esp6500siv2_ea=0.0366;1000g2015aug_all=0.0215655;avsnp147=rs29341;Kaviar_AF=0.0284343;Kaviar_AC=4396;Kaviar_AN=154602;ExAC_ALL=0.0363;ExAC_AFR=0.0358;ExAC_AMR=0.0210;ExAC_EAS=0;ExAC_FIN=0.0719;ExAC_NFE=0.0445;ExAC_OTH=0.0437;ExAC_SAS=0.0215;CLNALLELEID=258338;CLNDN=Long_QT_syndrome|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.6309;dpsi_zscore=-1.212;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0290;gnomAD_exome_AFR=0.0280;gnomAD_exome_AMR=0.0192;gnomAD_exome_ASJ=0.0175;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0535;gnomAD_exome_NFE=0.0355;gnomAD_exome_OTH=0.0355;gnomAD_exome_SAS=0.0186;gnomAD_genome_ALL=0.0405;gnomAD_genome_AFR=0.0295;gnomAD_genome_AMR=0.0286;gnomAD_genome_ASJ=0.0199;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0604;gnomAD_genome_NFE=0.0472;gnomAD_genome_OTH=0.0479;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . . . . 1:154:0,71 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 4 114257201 136390;rs3736575 C T 187.68 . #_unique_end_positions=,33;#_unique_start_positions=,23;AC=9;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6241;AF_ESP_clinvar_20171029_hg19=,0.2510;AF_EXAC_clinvar_20171029_hg19=,0.14599;AF_TGP_clinvar_20171029_hg19=,0.2604;ALLELEID_clinvar_20171029_hg19=,140093;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2017;AN=9;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.7396|0.2604;CLNDISDB_clinvar_20171029_hg19=,MeSH:D008133|MedGen:C0023976|SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736;CLNDN_clinvar_20171029_hg19=,Long_QT_syndrome|not_specified|Cardiovascular_phenotype;CLNHGVS_clinvar_20171029_hg19=,NC_000004.11:g.114257201C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:56311;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001127493.1:c.3552C>T|_NM_001148.4:c.3579C>T|_NM_020977.3:c.3579C>T;Coding_region_change_in_longest_transcript=,NM_001148.4:c.3579C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1161;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1014;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,44;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,ANK2:287;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:287;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:287;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:493;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:493;Homo_sapiens_refseq_GRCh37.p13_Genes=,ANK2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001127493.1|NM_020977.3|NM_001148.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene10303;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna15172|rna15174|rna15173;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:106410;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:106410;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene10303;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,114257201;RS_dbsnp_common_v150_hg19_refseq=,3736575;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,49;Read_coverage=,97;Read_direction_test_probability=,0.9841479278145369;Read_position_test_probability=,0.615334416296486;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001127493.1|NM_020977.3|NM_001148.4;Reverse_read_coverage=,53;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1227;SF=3,6,8,12,20,32,36,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.703929|0.296071;TPA_dbsnp_common_v150_hg19_refseq=,TPA;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05037800030517053f100100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.571429;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0982143;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.1;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.125;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.116279;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.119048;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.147059;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.744444;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.19;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.632867;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.102273;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.646018;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.204;db_xref=,GeneID:287|HGNC:HGNC:493|MIM:106410;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001127493.1|Genbank:NM_020977.3|Genbank:NM_001148.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ankyrin_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ANK2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,ANK2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ANK-2|brank-2|LQT4;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,ankyrin_2|_transcript_variant_3|ankyrin_2|_transcript_variant_2|ankyrin_2|_transcript_variant_1;transcript_id=,NM_001127493.1|NM_020977.3|NM_001148.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ANK2:NM_001148:exon30:c.C3579T:p.R1193R,ANK2:NM_020977:exon30:c.C3579T:p.R1193R,ANK2:NM_001127493:exon32:c.C3552T:p.R1184R;cytoBand=4q26;genomicSuperDups=.;esp6500siv2_all=0.2510;esp6500siv2_ea=0.1038;esp6500siv2_all=0.2510;esp6500siv2_ea=0.1038;1000g2015aug_all=0.260383;avsnp147=rs3736575;Kaviar_AF=0.142657;Kaviar_AC=22055;Kaviar_AN=154602;ExAC_ALL=0.1460;ExAC_AFR=0.5557;ExAC_AMR=0.1412;ExAC_EAS=0.1204;ExAC_FIN=0.0626;ExAC_NFE=0.0990;ExAC_OTH=0.1256;ExAC_SAS=0.1304;CLNALLELEID=140093;CLNDN=Long_QT_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0305;dpsi_zscore=-0.167;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1363;gnomAD_exome_AFR=0.5628;gnomAD_exome_AMR=0.1391;gnomAD_exome_ASJ=0.0989;gnomAD_exome_EAS=0.1203;gnomAD_exome_FIN=0.0616;gnomAD_exome_NFE=0.0993;gnomAD_exome_OTH=0.1371;gnomAD_exome_SAS=0.1304;gnomAD_genome_ALL=0.2250;gnomAD_genome_AFR=0.5426;gnomAD_genome_AMR=0.1316;gnomAD_genome_ASJ=0.0728;gnomAD_genome_EAS=0.1343;gnomAD_genome_FIN=0.0621;gnomAD_genome_NFE=0.1036;gnomAD_genome_OTH=0.1201;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . 1:81:0,42 . . 1:68:0,35 . 1:95:0,45 . . . 1:55:0,18 . . . . . . . 1:127:0,74 . . . . . . . . . . . 1:86:0,36 . . . 1:92:0,45 . . . 1:104:0,46 1:93:0,49 4 114263043 . G T 156.54 . #_unique_end_positions=,21;#_unique_start_positions=,20;AC=1;AN=1;Amino_acid_change=,NP_066187.2:p.Ala1365Ser|_NP_001120965.1:p.Ala1356Ser|_NP_001139.3:p.Ala1365Ser;Amino_acid_change_in_longest_transcript=,NP_001139.3:p.Ala1365Ser;BaseQRankSum=,-0.08;Coding_region_change=,NM_001127493.1:c.4066G>T|_NM_001148.4:c.4093G>T|_NM_020977.3:c.4093G>T;Coding_region_change_in_longest_transcript=,NM_001148.4:c.4093G>T;Forward_read_coverage=,27;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:287;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:287;Genotype=,G/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:493;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:493;Homo_sapiens_refseq_GRCh37.p13_Genes=,ANK2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001127493.1|NM_020977.3|NM_001148.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene10303;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna15172|rna15174|rna15173;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:106410;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:106410;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene10303;QUAL=,156.53559774527022;Read_count=,24;Read_coverage=,59;Read_direction_test_probability=,0.6011017083029808;Read_position_test_probability=,0.5522639970425456;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001127493.1|NM_020977.3|NM_001148.4;Reverse_read_coverage=,32;SF=15;conservation_score=,1.0;db_xref=,GeneID:287|HGNC:HGNC:493|MIM:106410;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001127493.1|Genbank:NM_020977.3|Genbank:NM_001148.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ankyrin_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ANK2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,ANK2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ANK-2|brank-2|LQT4;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,ankyrin_2|_transcript_variant_3|ankyrin_2|_transcript_variant_2|ankyrin_2|_transcript_variant_1;transcript_id=,NM_001127493.1|NM_020977.3|NM_001148.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=ANK2:NM_001148:exon33:c.G4093T:p.A1365S,ANK2:NM_020977:exon33:c.G4093T:p.A1365S,ANK2:NM_001127493:exon35:c.G4066T:p.A1356S;cytoBand=4q26;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.71;SIFT_pred=T;Polyphen2_HDIV_score=0.028;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.031;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.989;MutationTaster_pred=N;MutationAssessor_score=-0.895;MutationAssessor_pred=N;FATHMM_score=1.67;FATHMM_pred=T;PROVEAN_score=0.17;PROVEAN_pred=N;VEST3_score=0.202;CADD_raw=1.294;CADD_phred=12.24;DANN_score=0.838;fathmm-MKL_coding_score=0.692;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.043;MetaSVM_pred=T;MetaLR_score=0.035;MetaLR_pred=T;integrated_fitCons_score=0.563;integrated_confidence_value=0;GERP++_RS=4.62;phyloP7way_vertebrate=-0.020;phyloP20way_mammalian=0.079;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=0.998;SiPhy_29way_logOdds=13.785;GDI_full_10282015=.;dpsi_max_tissue=-0.1370;dpsi_zscore=-0.550;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . . . . . . . . 1:58:0,24 . . . . . . . . . . . . . . . . . . . . . . . . . . 4 114269433 18056;rs72544141 A G 54.93 . #_unique_end_positions=,15;#_unique_start_positions=,14;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0002;AF_EXAC_clinvar_20171029_hg19=,0.00042;AF_TGP_clinvar_20171029_hg19=,0.0010;ALLELEID_clinvar_20171029_hg19=,33095;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0058;AN=1;Amino_acid_change=,NP_066187.2:p.Glu1458Gly|_NP_001139.3:p.Glu1458Gly|_NP_001120965.1:p.Glu1449Gly;Amino_acid_change_in_longest_transcript=,NP_001139.3:p.Glu1458Gly;BaseQRankSum=,-0.24;CLNDISDB_clinvar_20171029_hg19=,MeSH:D008133|MedGen:C0023976|SNOMED_CT:9651007|MedGen:C1141890|Orphanet:ORPHA768|SNOMED_CT:442917000|MedGen:C1833154|MedGen:C1970119|OMIM:600919|MedGen:CN169374|MedGen:CN230736;CLNDN_clinvar_20171029_hg19=,Long_QT_syndrome|Congenital_long_QT_syndrome|Long_QT_syndrome_4|Cardiac_arrhythmia|_ankyrin_B-related|not_specified|Cardiovascular_phenotype;CLNHGVS_clinvar_20171029_hg19=,NC_000004.11:g.114269433A>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_conflicting_interpretations;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,OMIM_Allelic_Variant:106410.0001|UniProtKB_(protein):Q01484#VAR_022934;Coding_region_change=,NM_001127493.1:c.4346A>G|_NM_001148.4:c.4373A>G|_NM_020977.3:c.4373A>G;Coding_region_change_in_longest_transcript=,NM_001148.4:c.4373A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;Exact_match=,clinvar_20171029_hg19|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,20;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:287;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:287;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:493;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:493;Homo_sapiens_refseq_GRCh37.p13_Genes=,ANK2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001127493.1|NM_020977.3|NM_001148.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene10303;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna15172|rna15174|rna15173;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:106410;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:106410;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene10303;QUAL=,54.926917330579485;Read_count=,19;Read_coverage=,29;Read_direction_test_probability=,0.9886119226684155;Read_position_test_probability=,0.9836124483113293;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001127493.1|NM_020977.3|NM_001148.4;Reverse_read_coverage=,9;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=39;conservation_score=,1.0;db_xref=,GeneID:287|HGNC:HGNC:493|MIM:106410;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001127493.1|Genbank:NM_020977.3|Genbank:NM_001148.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ankyrin_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ANK2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,ANK2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ANK-2|brank-2|LQT4;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,ankyrin_2|_transcript_variant_3|ankyrin_2|_transcript_variant_2|ankyrin_2|_transcript_variant_1;transcript_id=,NM_001127493.1|NM_020977.3|NM_001148.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=ANK2:NM_001148:exon36:c.A4373G:p.E1458G,ANK2:NM_020977:exon36:c.A4373G:p.E1458G,ANK2:NM_001127493:exon38:c.A4346G:p.E1449G;cytoBand=4q26;genomicSuperDups=.;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;1000g2015aug_all=0.000998403;avsnp147=rs72544141;Kaviar_AF=0.0004786;Kaviar_AC=74;Kaviar_AN=154602;ExAC_ALL=0.0004;ExAC_AFR=0;ExAC_AMR=0.0010;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0006;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=33095;CLNDN=Long_QT_syndrome|Congenital_long_QT_syndrome|Long_QT_syndrome_4|Cardiac_arrhythmia,_ankyrin_B-related|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1141890,Orphanet:ORPHA768,SNOMED_CT:442917000|MedGen:C1833154|MedGen:C1970119,OMIM:600919|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.441;SIFT_pred=T;Polyphen2_HDIV_score=0.812;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.355;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=A;MutationAssessor_score=1.5;MutationAssessor_pred=L;FATHMM_score=1.44;FATHMM_pred=T;PROVEAN_score=-1.83;PROVEAN_pred=N;VEST3_score=0.855;CADD_raw=4.056;CADD_phred=23.7;DANN_score=0.998;fathmm-MKL_coding_score=0.996;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.984;MetaSVM_pred=T;MetaLR_score=0.058;MetaLR_pred=T;integrated_fitCons_score=0.651;integrated_confidence_value=0;GERP++_RS=5.69;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.199;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=15.937;GDI_full_10282015=.;dpsi_max_tissue=-1.4182;dpsi_zscore=-1.680;hgmdCODING=HGMD::Long_QT_syndrome#12571597;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM030186#"Long_QT_syndrome";gnomAD_exome_ALL=0.0005;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0011;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0008;gnomAD_exome_OTH=0.0009;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0004;gnomAD_genome_AFR=0.0005;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0005;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:26:0,17 . . 4 114275243 257580;rs33966911 C T 196.89 . #_unique_end_positions=,54;#_unique_start_positions=,50;AC=17;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0098;AF_ESP_clinvar_20171029_hg19=,0.0814;AF_EXAC_clinvar_20171029_hg19=,0.07960;AF_TGP_clinvar_20171029_hg19=,0.0389;ALLELEID_clinvar_20171029_hg19=,251312;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0591;AN=17;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.66;CAF_dbsnp_common_v150_hg19_refseq=,0.9611|0.03894;CLNDISDB_clinvar_20171029_hg19=,MeSH:D008133|MedGen:C0023976|SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736;CLNDN_clinvar_20171029_hg19=,Long_QT_syndrome|not_specified|Cardiovascular_phenotype;CLNHGVS_clinvar_20171029_hg19=,NC_000004.11:g.114275243C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:35390;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001127493.1:c.4399+3838C>T|_NM_001148.4:c.5469C>T|_NM_020977.3:c.4426+3838C>T;Coding_region_change_in_longest_transcript=,NM_001148.4:c.5469C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1213;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,67;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,ANK2:287;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:287;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:287;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:493;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:493;Homo_sapiens_refseq_GRCh37.p13_Genes=,ANK2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001148.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene10303;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna15173;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001627|intron_variant|SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:106410;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:106410;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene10303;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,114275243;RS_dbsnp_common_v150_hg19_refseq=,33966911;Read_count=,86;Read_coverage=,167;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9213794085045951;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001148.4;Reverse_read_coverage=,100;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0184;SF=3,4,6,8,12,20,23,28,32,36,38,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.935779|0.0642214;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05012808030515053e000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.001;db_xref=,GeneID:287|HGNC:HGNC:493|MIM:106410;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001148.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ankyrin_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ANK2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,ANK2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ANK-2|brank-2|LQT4;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,ankyrin_2|_transcript_variant_1;transcript_id=,NM_001148.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ANK2:NM_001148:exon38:c.C5469T:p.P1823P;cytoBand=4q26;genomicSuperDups=.;esp6500siv2_all=0.0814;esp6500siv2_ea=0.1119;esp6500siv2_all=0.0814;esp6500siv2_ea=0.1119;1000g2015aug_all=0.0389377;avsnp147=rs33966911;Kaviar_AF=0.0808916;Kaviar_AC=12506;Kaviar_AN=154602;ExAC_ALL=0.0796;ExAC_AFR=0.0189;ExAC_AMR=0.0501;ExAC_EAS=0.0002;ExAC_FIN=0.1064;ExAC_NFE=0.1139;ExAC_OTH=0.1024;ExAC_SAS=0.0293;CLNALLELEID=251312;CLNDN=Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0795;gnomAD_exome_AFR=0.0159;gnomAD_exome_AMR=0.0533;gnomAD_exome_ASJ=0.1180;gnomAD_exome_EAS=0.0004;gnomAD_exome_FIN=0.1034;gnomAD_exome_NFE=0.1123;gnomAD_exome_OTH=0.1110;gnomAD_exome_SAS=0.0303;gnomAD_genome_ALL=0.0809;gnomAD_genome_AFR=0.0194;gnomAD_genome_AMR=0.0609;gnomAD_genome_ASJ=0.1258;gnomAD_genome_EAS=0.0012;gnomAD_genome_FIN=0.0948;gnomAD_genome_NFE=0.1214;gnomAD_genome_OTH=0.0927;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . 1:153:0,79 1:105:0,55 . 1:127:0,53 . 1/1:141:0,141 . . . 1:157:0,61 . . . . . . . 1:107:0,54 . . 1/1:145:0,144 . . . . 1:159:0,70 . . . 1:114:0,54 . . . 1:114:0,55 . 1/1:120:0,120 . 1/1:170:0,170 1:136:0,57 4 114276880 35690;rs28377576 T C 196.66 . #_unique_end_positions=,58;#_unique_start_positions=,47;AC=17;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1952;AF_ESP_clinvar_20171029_hg19=,0.1399;AF_EXAC_clinvar_20171029_hg19=,0.09797;AF_TGP_clinvar_20171029_hg19=,0.0921;ALLELEID_clinvar_20171029_hg19=,44355;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0821;AN=17;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001139.3:p.Val2369Ala;Amino_acid_change_in_longest_transcript=,NP_001139.3:p.Val2369Ala;BaseQRankSum=,0.24;CAF_dbsnp_common_v150_hg19_refseq=,0.9079|0.09205|.;CLNDISDB_clinvar_20171029_hg19=,MeSH:D008133|MedGen:C0023976|SNOMED_CT:9651007|MedGen:C0003811|OMIM:115000|MedGen:CN169374|MedGen:CN230736;CLNDN_clinvar_20171029_hg19=,Long_QT_syndrome|Cardiac_arrhythmia|not_specified|Cardiovascular_phenotype;CLNHGVS_clinvar_20171029_hg19=,NC_000004.11:g.114276880T>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:35397|UniProtKB_(protein):Q01484#VAR_055505;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001127493.1:c.4400-5099T>C|_NM_001148.4:c.7106T>C|_NM_020977.3:c.4427-5099T>C;Coding_region_change_in_longest_transcript=,NM_001148.4:c.7106T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1252;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,95;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,ANK2:287;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:287;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:287;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:493;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:493;Homo_sapiens_refseq_GRCh37.p13_Genes=,ANK2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001148.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene10303;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna15173;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant|SO:0001627|intron_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:106410;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:106410;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene10303;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,114276880;RS_dbsnp_common_v150_hg19_refseq=,28377576;Read_count=,88;Read_coverage=,193;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9895056867780541;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001148.4;Reverse_read_coverage=,98;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0194;SF=3,4,6,8,12,20,23,28,32,36,38,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.858919|0.141081|.;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050168080a05150537100100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.265306;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.146018;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.0121951;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.0170455;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.177778;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.04;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.234266;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.109195;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.159292;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.004;db_xref=,GeneID:287|HGNC:HGNC:493|MIM:106410;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001148.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ankyrin_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ANK2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,ANK2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ANK-2|brank-2|LQT4;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,ankyrin_2|_transcript_variant_1;transcript_id=,NM_001148.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=ANK2:NM_001148:exon38:c.T7106C:p.V2369A;cytoBand=4q26;genomicSuperDups=.;esp6500siv2_all=0.1399;esp6500siv2_ea=0.1163;esp6500siv2_all=0.1399;esp6500siv2_ea=0.1163;1000g2015aug_all=0.0920527;avsnp147=rs28377576;Kaviar_AF=0.0970169;Kaviar_AC=14999;Kaviar_AN=154602;ExAC_ALL=0.0980;ExAC_AFR=0.1817;ExAC_AMR=0.0569;ExAC_EAS=0.0002;ExAC_FIN=0.1092;ExAC_NFE=0.1189;ExAC_OTH=0.1115;ExAC_SAS=0.0351;CLNALLELEID=44355;CLNDN=Long_QT_syndrome|Cardiac_arrhythmia|Cardiac_arrhythmia,_ankyrin_B-related|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0003811,OMIM:115000|MedGen:C1970119,OMIM:600919|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.57;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.406;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.39;MutationAssessor_pred=N;FATHMM_score=-0.12;FATHMM_pred=T;PROVEAN_score=-0.01;PROVEAN_pred=N;VEST3_score=0.02;CADD_raw=-2.250;CADD_phred=0.001;DANN_score=0.504;fathmm-MKL_coding_score=0.027;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.047;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.615;integrated_confidence_value=0;GERP++_RS=0.026;phyloP7way_vertebrate=-0.616;phyloP20way_mammalian=0.069;phastCons7way_vertebrate=0.004;phastCons20way_mammalian=0.006;SiPhy_29way_logOdds=1.293;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0943;gnomAD_exome_AFR=0.1810;gnomAD_exome_AMR=0.0624;gnomAD_exome_ASJ=0.1216;gnomAD_exome_EAS=0.0004;gnomAD_exome_FIN=0.1059;gnomAD_exome_NFE=0.1166;gnomAD_exome_OTH=0.1221;gnomAD_exome_SAS=0.0363;gnomAD_genome_ALL=0.1265;gnomAD_genome_AFR=0.1712;gnomAD_genome_AMR=0.0670;gnomAD_genome_ASJ=0.1391;gnomAD_genome_EAS=0.0019;gnomAD_genome_FIN=0.0980;gnomAD_genome_NFE=0.1250;gnomAD_genome_OTH=0.1051;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . 1:176:0,79 1:138:0,54 . 1:127:0,52 . 1/1:179:0,179 . . . 1:211:0,107 . . . . . . . 1:158:0,86 . . 1/1:214:0,214 . . . . 1:217:0,111 . . . 1:156:0,83 . . . 1:145:0,80 . 1/1:158:0,158 . 1/1:203:0,203 1:162:0,76 4 114276884 257582;rs3733615 A G 190.30 . #_unique_end_positions=,57;#_unique_start_positions=,46;AC=17;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6339;AF_ESP_clinvar_20171029_hg19=,0.2941;AF_EXAC_clinvar_20171029_hg19=,0.19022;AF_TGP_clinvar_20171029_hg19=,0.2849;ALLELEID_clinvar_20171029_hg19=,251314;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2392;AN=17;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.66;CAF_dbsnp_common_v150_hg19_refseq=,0.7151|0.2849;CLNDISDB_clinvar_20171029_hg19=,MeSH:D008133|MedGen:C0023976|SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736;CLNDN_clinvar_20171029_hg19=,Long_QT_syndrome|not_specified|Cardiovascular_phenotype;CLNHGVS_clinvar_20171029_hg19=,NC_000004.11:g.114276884A>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:35421;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001127493.1:c.4400-5095A>G|_NM_001148.4:c.7110A>G|_NM_020977.3:c.4427-5095A>G;Coding_region_change_in_longest_transcript=,NM_001148.4:c.7110A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1151;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1700;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,93;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,ANK2:287;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:287;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:287;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:493;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:493;Homo_sapiens_refseq_GRCh37.p13_Genes=,ANK2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001148.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene10303;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna15173;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001627|intron_variant|SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:106410;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:106410;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene10303;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,114276884;RS_dbsnp_common_v150_hg19_refseq=,3733615;Read_count=,85;Read_coverage=,192;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9921813232083911;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001148.4;Reverse_read_coverage=,99;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1391;SF=3,4,6,8,12,20,23,28,32,36,38,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.666976|0.333024;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05012808030517053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.591837;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.176991;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.109756;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.123529;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.130682;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.127907;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.133721;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.755556;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.18;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.678322;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.193182;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.646018;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.098;db_xref=,GeneID:287|HGNC:HGNC:493|MIM:106410;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001148.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ankyrin_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ANK2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,ANK2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ANK-2|brank-2|LQT4;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,ankyrin_2|_transcript_variant_1;transcript_id=,NM_001148.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ANK2:NM_001148:exon38:c.A7110G:p.Q2370Q;cytoBand=4q26;genomicSuperDups=.;esp6500siv2_all=0.2941;esp6500siv2_ea=0.1620;esp6500siv2_all=0.2941;esp6500siv2_ea=0.1620;1000g2015aug_all=0.284944;avsnp147=rs3733615;Kaviar_AF=0.185787;Kaviar_AC=28723;Kaviar_AN=154602;ExAC_ALL=0.1902;ExAC_AFR=0.5669;ExAC_AMR=0.1728;ExAC_EAS=0.1205;ExAC_FIN=0.1283;ExAC_NFE=0.1603;ExAC_OTH=0.1876;ExAC_SAS=0.1471;CLNALLELEID=251314;CLNDN=Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1816;gnomAD_exome_AFR=0.5730;gnomAD_exome_AMR=0.1714;gnomAD_exome_ASJ=0.2045;gnomAD_exome_EAS=0.1208;gnomAD_exome_FIN=0.1259;gnomAD_exome_NFE=0.1576;gnomAD_exome_OTH=0.2051;gnomAD_exome_SAS=0.1477;gnomAD_genome_ALL=0.2669;gnomAD_genome_AFR=0.5553;gnomAD_genome_AMR=0.1718;gnomAD_genome_ASJ=0.1954;gnomAD_genome_EAS=0.1334;gnomAD_genome_FIN=0.1194;gnomAD_genome_NFE=0.1616;gnomAD_genome_OTH=0.1673;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . 1:175:0,77 1:141:0,56 . 1:126:0,51 . 1/1:180:0,180 . . . 1:210:0,106 . . . . . . . 1:156:0,83 . . 1/1:211:0,211 . . . . 1:221:0,110 . . . 1:154:0,81 . . . 1:143:0,80 . 1/1:157:0,157 . 1/1:201:0,201 1:160:0,75 4 114276894 . G T 200.00 . #_unique_end_positions=,62;#_unique_start_positions=,57;AC=1;AN=1;Amino_acid_change=,NP_001139.3:p.Ala2374Ser;Amino_acid_change_in_longest_transcript=,NP_001139.3:p.Ala2374Ser;BaseQRankSum=,-0.41;Coding_region_change=,NM_001127493.1:c.4400-5085G>T|_NM_001148.4:c.7120G>T|_NM_020977.3:c.4427-5085G>T;Coding_region_change_in_longest_transcript=,NM_001148.4:c.7120G>T;Forward_read_coverage=,112;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:287;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:287;Genotype=,G/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:493;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:493;Homo_sapiens_refseq_GRCh37.p13_Genes=,ANK2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001148.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene10303;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna15173;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:106410;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:106410;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene10303;QUAL=,200.0;Read_count=,127;Read_coverage=,227;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9972467472798976;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001148.4;Reverse_read_coverage=,115;SF=13;conservation_score=,0.0;db_xref=,GeneID:287|HGNC:HGNC:493|MIM:106410;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001148.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ankyrin_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ANK2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,ANK2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ANK-2|brank-2|LQT4;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,ankyrin_2|_transcript_variant_1;transcript_id=,NM_001148.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=ANK2:NM_001148:exon38:c.G7120T:p.A2374S;cytoBand=4q26;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs763277342;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=8.246e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.499e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.086;SIFT_pred=T;Polyphen2_HDIV_score=0.005;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.007;Polyphen2_HVAR_pred=B;LRT_score=0.027;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0.895;MutationAssessor_pred=L;FATHMM_score=-0.35;FATHMM_pred=T;PROVEAN_score=0.13;PROVEAN_pred=N;VEST3_score=0.039;CADD_raw=-2.700;CADD_phred=0.001;DANN_score=0.612;fathmm-MKL_coding_score=0.103;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.008;MetaSVM_pred=T;MetaLR_score=0.160;MetaLR_pred=T;integrated_fitCons_score=0.615;integrated_confidence_value=0;GERP++_RS=-11.2;phyloP7way_vertebrate=-0.687;phyloP20way_mammalian=0.208;phastCons7way_vertebrate=0.005;phastCons20way_mammalian=0.003;SiPhy_29way_logOdds=13.683;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=1.222e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=2.98e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=1.801e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . . . . . . 1:199:0,110 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 4 114279422 257583;rs10013743 A G 193.78 . #_unique_end_positions=,46;#_unique_start_positions=,40;AC=17;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1936;AF_ESP_clinvar_20171029_hg19=,0.1394;AF_EXAC_clinvar_20171029_hg19=,0.09821;AF_TGP_clinvar_20171029_hg19=,0.0921;ALLELEID_clinvar_20171029_hg19=,251315;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0821;AN=17;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.16;CAF_dbsnp_common_v150_hg19_refseq=,0.9079|0.09205;CLNDISDB_clinvar_20171029_hg19=,MeSH:D008133|MedGen:C0023976|SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736;CLNDN_clinvar_20171029_hg19=,Long_QT_syndrome|not_specified|Cardiovascular_phenotype;CLNHGVS_clinvar_20171029_hg19=,NC_000004.11:g.114279422A>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:35440;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001127493.1:c.4400-2557A>G|_NM_001148.4:c.9648A>G|_NM_020977.3:c.4427-2557A>G;Coding_region_change_in_longest_transcript=,NM_001148.4:c.9648A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1272;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,49;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,ANK2:287;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:287;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:287;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:493;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:493;Homo_sapiens_refseq_GRCh37.p13_Genes=,ANK2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001148.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene10303;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna15173;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001627|intron_variant|SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:106410;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:106410;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene10303;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,114279422;RS_dbsnp_common_v150_hg19_refseq=,10013743;Read_count=,70;Read_coverage=,153;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.8009303366913129;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001148.4;Reverse_read_coverage=,104;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0194;SF=3,4,6,8,12,20,23,28,32,36,38,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.858713|0.141287;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05012808030515053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.265306;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.133333;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.0121951;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.0170455;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.177778;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.04;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.234266;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.125;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.158333;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.011;db_xref=,GeneID:287|HGNC:HGNC:493|MIM:106410;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001148.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ankyrin_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ANK2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,ANK2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ANK-2|brank-2|LQT4;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,ankyrin_2|_transcript_variant_1;transcript_id=,NM_001148.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ANK2:NM_001148:exon38:c.A9648G:p.E3216E;cytoBand=4q26;genomicSuperDups=.;esp6500siv2_all=0.1394;esp6500siv2_ea=0.1158;esp6500siv2_all=0.1394;esp6500siv2_ea=0.1158;1000g2015aug_all=0.0920527;avsnp147=rs10013743;Kaviar_AF=0.0981941;Kaviar_AC=15181;Kaviar_AN=154602;ExAC_ALL=0.0982;ExAC_AFR=0.1817;ExAC_AMR=0.0572;ExAC_EAS=0.0002;ExAC_FIN=0.1090;ExAC_NFE=0.1192;ExAC_OTH=0.1123;ExAC_SAS=0.0352;CLNALLELEID=251315;CLNDN=Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0944;gnomAD_exome_AFR=0.1811;gnomAD_exome_AMR=0.0625;gnomAD_exome_ASJ=0.1221;gnomAD_exome_EAS=0.0004;gnomAD_exome_FIN=0.1059;gnomAD_exome_NFE=0.1167;gnomAD_exome_OTH=0.1222;gnomAD_exome_SAS=0.0363;gnomAD_genome_ALL=0.1263;gnomAD_genome_AFR=0.1711;gnomAD_genome_AMR=0.0668;gnomAD_genome_ASJ=0.1391;gnomAD_genome_EAS=0.0019;gnomAD_genome_FIN=0.0979;gnomAD_genome_NFE=0.1244;gnomAD_genome_OTH=0.1069;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . 1:143:0,67 1:128:0,66 . 1:107:0,59 . 1/1:153:0,153 . . . 1:144:0,73 . . . . . . . 1:130:0,59 . . 1/1:187:0,187 . . . . 1:166:0,86 . . . 1:125:0,61 . . . 1:146:0,70 . 1/1:104:0,104 . 1/1:192:0,192 1:127:0,53 4 114279674 191563;rs34270799 C A 200.00 . #_unique_end_positions=,50;#_unique_start_positions=,33;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0228;AF_EXAC_clinvar_20171029_hg19=,0.01883;AF_TGP_clinvar_20171029_hg19=,0.0100;ALLELEID_clinvar_20171029_hg19=,189251;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0173;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001139.3:p.Ser3300Arg;Amino_acid_change_in_longest_transcript=,NP_001139.3:p.Ser3300Arg;BaseQRankSum=,0.02;CAF_dbsnp_common_v150_hg19_refseq=,0.99|0.009984;CLNDISDB_clinvar_20171029_hg19=,MeSH:D008133|MedGen:C0023976|SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736;CLNDN_clinvar_20171029_hg19=,Long_QT_syndrome|not_specified|Cardiovascular_phenotype;CLNHGVS_clinvar_20171029_hg19=,NC_000004.11:g.114279674C>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:64916;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001127493.1:c.4400-2305C>A|_NM_001148.4:c.9900C>A|_NM_020977.3:c.4427-2305C>A;Coding_region_change_in_longest_transcript=,NM_001148.4:c.9900C>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0318;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,78;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,ANK2:287;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:287;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:287;Genotype=,A/C;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:493;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:493;Homo_sapiens_refseq_GRCh37.p13_Genes=,ANK2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001148.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene10303;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna15173;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant|SO:0001627|intron_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:106410;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:106410;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene10303;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,114279674;RS_dbsnp_common_v150_hg19_refseq=,34270799;Read_count=,80;Read_coverage=,161;Read_direction_test_probability=,0.9993095257200996;Read_position_test_probability=,0.9056118589404897;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001148.4;Reverse_read_coverage=,83;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0061;SF=32;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.982554|0.0174463;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128080a05050536000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.027;db_xref=,GeneID:287|HGNC:HGNC:493|MIM:106410;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001148.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ankyrin_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ANK2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,ANK2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ANK-2|brank-2|LQT4;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,ankyrin_2|_transcript_variant_1;transcript_id=,NM_001148.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=ANK2:NM_001148:exon38:c.C9900A:p.S3300R;cytoBand=4q26;genomicSuperDups=.;esp6500siv2_all=0.0228;esp6500siv2_ea=0.0317;esp6500siv2_all=0.0228;esp6500siv2_ea=0.0317;1000g2015aug_all=0.00998403;avsnp147=rs34270799;Kaviar_AF=0.0193529;Kaviar_AC=2992;Kaviar_AN=154602;ExAC_ALL=0.0188;ExAC_AFR=0.0041;ExAC_AMR=0.0113;ExAC_EAS=0.0002;ExAC_FIN=0.0307;ExAC_NFE=0.0264;ExAC_OTH=0.0099;ExAC_SAS=0.0081;CLNALLELEID=189251;CLNDN=Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.016;SIFT_pred=D;Polyphen2_HDIV_score=0.988;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.885;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=1.905;MutationAssessor_pred=M;FATHMM_score=-0.36;FATHMM_pred=T;PROVEAN_score=-1.64;PROVEAN_pred=N;VEST3_score=0.283;CADD_raw=2.371;CADD_phred=18.63;DANN_score=0.994;fathmm-MKL_coding_score=0.830;fathmm-MKL_coding_pred=D;MetaSVM_score=0.401;MetaSVM_pred=D;MetaLR_score=0.744;MetaLR_pred=D;integrated_fitCons_score=0.615;integrated_confidence_value=0;GERP++_RS=4.09;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.999;phastCons20way_mammalian=0.994;SiPhy_29way_logOdds=9.521;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0193;gnomAD_exome_AFR=0.0044;gnomAD_exome_AMR=0.0126;gnomAD_exome_ASJ=0.0185;gnomAD_exome_EAS=0.0005;gnomAD_exome_FIN=0.0297;gnomAD_exome_NFE=0.0271;gnomAD_exome_OTH=0.0205;gnomAD_exome_SAS=0.0088;gnomAD_genome_ALL=0.0211;gnomAD_genome_AFR=0.0056;gnomAD_genome_AMR=0.0155;gnomAD_genome_ASJ=0.0099;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0341;gnomAD_genome_NFE=0.0297;gnomAD_genome_OTH=0.0224;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:135:0,71 . . . . . . . . . 4 114280329 . C T 200.00 . #_unique_end_positions=,46;#_unique_start_positions=,44;AC=1;AN=1;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.41;Coding_region_change=,NM_001127493.1:c.4400-1650C>T|_NM_001148.4:c.10555C>T|_NM_020977.3:c.4427-1650C>T;Coding_region_change_in_longest_transcript=,NM_001148.4:c.10555C>T;Forward_read_coverage=,46;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:287;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:287;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:493;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:493;Homo_sapiens_refseq_GRCh37.p13_Genes=,ANK2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001148.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene10303;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna15173;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:106410;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:106410;Non-synonymous=,No;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene10303;QUAL=,200.0;Read_count=,67;Read_coverage=,113;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9613422251220052;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001148.4;Reverse_read_coverage=,67;SF=34;conservation_score=,1.0;db_xref=,GeneID:287|HGNC:HGNC:493|MIM:106410;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001148.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ankyrin_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ANK2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,ANK2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ANK-2|brank-2|LQT4;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,ankyrin_2|_transcript_variant_1;transcript_id=,NM_001148.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ANK2:NM_001148:exon38:c.C10555T:p.L3519L;cytoBand=4q26;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs750329150;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;ExAC_ALL=1.649e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=3e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.074e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=9e-06;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:111:0,66 . . . . . . . 4 114288900 . A G 200.00 . #_unique_end_positions=,29;#_unique_start_positions=,28;AC=1;AN=1;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;Coding_region_change=,NM_001127493.1:c.4929A>G|_NM_001148.4:c.11211A>G|_NM_020977.3:c.4956A>G;Coding_region_change_in_longest_transcript=,NM_001148.4:c.11211A>G;Forward_read_coverage=,31;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:287;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:287;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:493;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:493;Homo_sapiens_refseq_GRCh37.p13_Genes=,ANK2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001127493.1|NM_020977.3|NM_001148.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene10303;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna15172|rna15174|rna15173;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:106410;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:106410;Non-synonymous=,No;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene10303;QUAL=,200.0;Read_count=,36;Read_coverage=,65;Read_direction_test_probability=,0.9855687869299784;Read_position_test_probability=,0.948662817381664;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001127493.1|NM_020977.3|NM_001148.4;Reverse_read_coverage=,34;SF=7;conservation_score=,0.0;db_xref=,GeneID:287|HGNC:HGNC:493|MIM:106410;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001127493.1|Genbank:NM_020977.3|Genbank:NM_001148.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ankyrin_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ANK2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,ANK2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ANK-2|brank-2|LQT4;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,ankyrin_2|_transcript_variant_3|ankyrin_2|_transcript_variant_2|ankyrin_2|_transcript_variant_1;transcript_id=,NM_001127493.1|NM_020977.3|NM_001148.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ANK2:NM_020977:exon41:c.A4956G:p.A1652A,ANK2:NM_001148:exon42:c.A11211G:p.A3737A,ANK2:NM_001127493:exon43:c.A4929G:p.A1643A;cytoBand=4q26;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs752461691;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=8.239e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.499e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0908;dpsi_zscore=0.455;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=2.033e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=4.485e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=3.232e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.668e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . 1:60:0,34 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 4 114294308 136397;rs2293324 T C 165.43 . #_unique_end_positions=,18;#_unique_start_positions=,18;AC=17;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7277;AF_ESP_clinvar_20171029_hg19=,0.3206;AF_EXAC_clinvar_20171029_hg19=,0.19738;AF_TGP_clinvar_20171029_hg19=,0.3133;ALLELEID_clinvar_20171029_hg19=,140100;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2363;AN=17;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.6867|0.3133;CLNDISDB_clinvar_20171029_hg19=,MeSH:D008133|MedGen:C0023976|SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736;CLNDN_clinvar_20171029_hg19=,Long_QT_syndrome|not_specified|Cardiovascular_phenotype;CLNHGVS_clinvar_20171029_hg19=,NC_000004.11:g.114294308T>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:35449;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001127493.1:c.5391T>C|_NM_001148.4:c.11673T>C|_NM_020977.3:c.5418T>C;Coding_region_change_in_longest_transcript=,NM_001148.4:c.11673T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1359;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1680;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,35;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,ANK2:287;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:287;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:287;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:493;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:493;Homo_sapiens_refseq_GRCh37.p13_Genes=,ANK2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001127493.1|NM_020977.3|NM_001148.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene10303;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna15172|rna15174|rna15173;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:106410;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:106410;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene10303;QUAL=,143.74806173574194;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,114294308;RS_dbsnp_common_v150_hg19_refseq=,2293324;Read_count=,23;Read_coverage=,51;Read_direction_test_probability=,0.9449070679197467;Read_position_test_probability=,0.9086238774450476;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001127493.1|NM_020977.3|NM_001148.4;Reverse_read_coverage=,16;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1401;SF=3,4,6,8,12,20,23,28,32,36,38,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.632598|0.367402;TPA_dbsnp_common_v150_hg19_refseq=,TPA;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05017800030515053f100100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.653061;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.172566;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.146341;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.123529;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.136364;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.197674;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.151163;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.827778;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.163265;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.65035;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.193182;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.716814;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.019;db_xref=,GeneID:287|HGNC:HGNC:493|MIM:106410;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001127493.1|Genbank:NM_020977.3|Genbank:NM_001148.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ankyrin_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ANK2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,ANK2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ANK-2|brank-2|LQT4;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,ankyrin_2|_transcript_variant_3|ankyrin_2|_transcript_variant_2|ankyrin_2|_transcript_variant_1;transcript_id=,NM_001127493.1|NM_020977.3|NM_001148.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ANK2:NM_020977:exon43:c.T5418C:p.H1806H,ANK2:NM_001148:exon44:c.T11673C:p.H3891H,ANK2:NM_001127493:exon45:c.T5391C:p.H1797H;cytoBand=4q26;genomicSuperDups=.;esp6500siv2_all=0.3206;esp6500siv2_ea=0.1601;esp6500siv2_all=0.3206;esp6500siv2_ea=0.1601;1000g2015aug_all=0.313299;avsnp147=rs2293324;Kaviar_AF=0.194545;Kaviar_AC=30077;Kaviar_AN=154602;ExAC_ALL=0.1974;ExAC_AFR=0.6488;ExAC_AMR=0.1786;ExAC_EAS=0.1361;ExAC_FIN=0.1240;ExAC_NFE=0.1581;ExAC_OTH=0.1949;ExAC_SAS=0.1467;CLNALLELEID=140100;CLNDN=Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=2.1791;dpsi_zscore=2.024;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1876;gnomAD_exome_AFR=0.6546;gnomAD_exome_AMR=0.1770;gnomAD_exome_ASJ=0.2044;gnomAD_exome_EAS=0.1388;gnomAD_exome_FIN=0.1213;gnomAD_exome_NFE=0.1561;gnomAD_exome_OTH=0.2092;gnomAD_exome_SAS=0.1473;gnomAD_genome_ALL=0.2908;gnomAD_genome_AFR=0.6378;gnomAD_genome_AMR=0.1790;gnomAD_genome_ASJ=0.1887;gnomAD_genome_EAS=0.1502;gnomAD_genome_FIN=0.1133;gnomAD_genome_NFE=0.1617;gnomAD_genome_OTH=0.1724;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . 1:45:0,20 1:27:0,12 . 1:31:0,16 . 1/1:46:0,46 . . . 1:56:0,31 . . . . . . . 1:57:0,33 . . 1/1:64:0,64 . . . . 1:79:0,30 . . . 1:41:0,19 . . . 1:54:0,32 . 1/1:51:0,51 . 1/1:60:0,60 1:48:0,26 4 114302634 136400;rs35446871 C T 200.00 . #_unique_end_positions=,28;#_unique_start_positions=,22;AC=6;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0234;AF_ESP_clinvar_20171029_hg19=,0.0322;AF_EXAC_clinvar_20171029_hg19=,0.02887;AF_TGP_clinvar_20171029_hg19=,0.0178;ALLELEID_clinvar_20171029_hg19=,140103;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0346;AN=6;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.23;CAF_dbsnp_common_v150_hg19_refseq=,0.9822|0.01777;CLNDISDB_clinvar_20171029_hg19=,MeSH:D008133|MedGen:C0023976|SNOMED_CT:9651007|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Long_QT_syndrome|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000004.11:g.114302634C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:56263;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001127493.1:c.*7C>T|_NM_001148.4:c.*7C>T|_NM_020977.3:c.*7C>T;Coding_region_change_in_longest_transcript=,NM_001148.4:c.*7C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0308;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,60;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,ANK2:287;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:287;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:287;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:493;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:493;Homo_sapiens_refseq_GRCh37.p13_Genes=,ANK2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001127493.1|NM_020977.3|NM_001148.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene10303;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna15172|rna15174|rna15173;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001624|3_prime_UTR_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:106410;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:106410;Non-synonymous=,-;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene10303;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,114302634;RS_dbsnp_common_v150_hg19_refseq=,35446871;Read_count=,38;Read_coverage=,90;Read_direction_test_probability=,0.9870510073964636;Read_position_test_probability=,0.8218204544545882;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001127493.1|NM_020977.3|NM_001148.4;Reverse_read_coverage=,30;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0031;SF=1,2,3,14,25,26;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.971118|0.0288825;TPA_dbsnp_common_v150_hg19_refseq=,TPA;U3_dbsnp_common_v150_hg19_refseq=,U3;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050138800305150536000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.0;db_xref=,GeneID:287|HGNC:HGNC:493|MIM:106410;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001127493.1|Genbank:NM_020977.3|Genbank:NM_001148.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ankyrin_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ANK2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,ANK2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ANK-2|brank-2|LQT4;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,ankyrin_2|_transcript_variant_3|ankyrin_2|_transcript_variant_2|ankyrin_2|_transcript_variant_1;transcript_id=,NM_001127493.1|NM_020977.3|NM_001148.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR3;Gene.refGene=ANK2;GeneDetail.refGene=NM_001127493:c.*7C>T,NM_001148:c.*7C>T,NM_020977:c.*7C>T;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=4q26;genomicSuperDups=.;esp6500siv2_all=0.0322;esp6500siv2_ea=0.0347;esp6500siv2_all=0.0322;esp6500siv2_ea=0.0347;1000g2015aug_all=0.0177716;avsnp147=rs35446871;Kaviar_AF=0.0294045;Kaviar_AC=4546;Kaviar_AN=154602;ExAC_ALL=0.0289;ExAC_AFR=0.0258;ExAC_AMR=0.0230;ExAC_EAS=0;ExAC_FIN=0.0324;ExAC_NFE=0.0394;ExAC_OTH=0.0257;ExAC_SAS=0.0059;CLNALLELEID=140103;CLNDN=Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|not_specified;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0281;gnomAD_exome_AFR=0.0257;gnomAD_exome_AMR=0.0215;gnomAD_exome_ASJ=0.0493;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0349;gnomAD_exome_NFE=0.0373;gnomAD_exome_OTH=0.0336;gnomAD_exome_SAS=0.0058;gnomAD_genome_ALL=0.0273;gnomAD_genome_AFR=0.0281;gnomAD_genome_AMR=0.0143;gnomAD_genome_ASJ=0.0298;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0367;gnomAD_genome_NFE=0.0282;gnomAD_genome_OTH=0.0276;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . 1:73:0,32 1:69:0,33 1:77:0,36 . . . . . . . . . . 1:97:0,45 . . . . . . . . . . 1:66:0,27 1:77:0,36 . . . . . . . . . . . . . . . 4 120057716 . A C 149.55 . #_unique_end_positions=,32;#_unique_start_positions=,29;AC=2;AN=2;Amino_acid_change=,NP_057683.1:p.Lys12Asn;Amino_acid_change_in_longest_transcript=,NP_057683.1:p.Lys12Asn;Coding_region_change=,NM_016599.4:c.36A>C;Coding_region_change_in_longest_transcript=,NM_016599.4:c.36A>C;Forward_read_coverage=,18;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:51778;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:51778;Genotype=,C/C;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:1330;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:1330;Homo_sapiens_refseq_GRCh37.p13_Genes=,MYOZ2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_016599.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene10350;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna15243;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:605602;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:605602;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene10350;QUAL=,149.54589770191004;Read_count=,46;Read_coverage=,46;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_016599.4;Reverse_read_coverage=,28;SF=29;conservation_score=,0.981;db_xref=,GeneID:51778|HGNC:HGNC:1330|MIM:605602;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:05724;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_016599.4|HPRD:05724;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,myozenin_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MYOZ2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MYOZ2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,C4orf5|CMH16|CS-1;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,myozenin_2;transcript_id=,NM_016599.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYOZ2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYOZ2:NM_016599:exon2:c.A36C:p.K12N;cytoBand=4q26;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs775592981;Kaviar_AF=3.88e-05;Kaviar_AC=6;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.008;SIFT_pred=D;Polyphen2_HDIV_score=0.997;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.959;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.999;MutationTaster_pred=D;MutationAssessor_score=2.325;MutationAssessor_pred=M;FATHMM_score=-0.5;FATHMM_pred=T;PROVEAN_score=-2.57;PROVEAN_pred=D;VEST3_score=0.104;CADD_raw=4.360;CADD_phred=24.1;DANN_score=0.996;fathmm-MKL_coding_score=0.722;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.146;MetaSVM_pred=T;MetaLR_score=0.448;MetaLR_pred=T;integrated_fitCons_score=0.653;integrated_confidence_value=0;GERP++_RS=-2.51;phyloP7way_vertebrate=0.126;phyloP20way_mammalian=0.196;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=0.999;SiPhy_29way_logOdds=13.233;GDI_full_10282015=.;dpsi_max_tissue=2.0407;dpsi_zscore=1.981;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.071e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:40:0,40 . . . . . . . . . . . . 4 120072187 31788;rs17851524 A G 91.30 . #_unique_end_positions=,13;#_unique_start_positions=,8;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0015;AF_ESP_clinvar_20171029_hg19=,0.0096;AF_EXAC_clinvar_20171029_hg19=,0.00992;AF_TGP_clinvar_20171029_hg19=,0.0038;ALLELEID_clinvar_20171029_hg19=,40448;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0043;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.9962|0.003794|.;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|not_provided;CLNHGVS_clinvar_20171029_hg19=,NC_000004.11:g.120072187A>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Leiden_Muscular_Dystrophy_pages_(MYOZ2):MYOZ2_00006;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_016599.4:c.237A>G;Coding_region_change_in_longest_transcript=,NM_016599.4:c.237A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0139;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,16;GENEINFO_dbsnp_common_v150_hg19_refseq=,MYOZ2:51778;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:51778;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:51778;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:1330;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:1330;Homo_sapiens_refseq_GRCh37.p13_Genes=,MYOZ2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_016599.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene10350;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna15243;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:605602;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:605602;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene10350;QUAL=,91.2958269876969;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,120072187;RS_dbsnp_common_v150_hg19_refseq=,17851524;Read_count=,18;Read_coverage=,54;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.2715131364222044;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_016599.4;Reverse_read_coverage=,38;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=20;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.992513|0.00748678|.;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050168000305040436100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.861;db_xref=,GeneID:51778|HGNC:HGNC:1330|MIM:605602;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:05724;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_016599.4|HPRD:05724;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,myozenin_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MYOZ2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MYOZ2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,C4orf5|CMH16|CS-1;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,myozenin_2;transcript_id=,NM_016599.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYOZ2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYOZ2:NM_016599:exon3:c.A237G:p.A79A;cytoBand=4q26;genomicSuperDups=.;esp6500siv2_all=0.0096;esp6500siv2_ea=0.0140;esp6500siv2_all=0.0096;esp6500siv2_ea=0.0140;1000g2015aug_all=0.00379393;avsnp147=rs17851524;Kaviar_AF=0.0098446;Kaviar_AC=1522;Kaviar_AN=154602;ExAC_ALL=0.0099;ExAC_AFR=0.0022;ExAC_AMR=0.0071;ExAC_EAS=0;ExAC_FIN=0.0058;ExAC_NFE=0.0149;ExAC_OTH=0.0077;ExAC_SAS=0.0035;CLNALLELEID=40448;CLNDN=Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_16|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3151204,OMIM:613838|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0151;dpsi_zscore=0.103;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0094;gnomAD_exome_AFR=0.0020;gnomAD_exome_AMR=0.0077;gnomAD_exome_ASJ=0.0131;gnomAD_exome_EAS=5.8e-05;gnomAD_exome_FIN=0.0048;gnomAD_exome_NFE=0.0147;gnomAD_exome_OTH=0.0095;gnomAD_exome_SAS=0.0035;gnomAD_genome_ALL=0.0085;gnomAD_genome_AFR=0.0031;gnomAD_genome_AMR=0.0107;gnomAD_genome_ASJ=0.0166;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0063;gnomAD_genome_NFE=0.0127;gnomAD_genome_OTH=0.0102;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . 1:50:0,17 . . . . . . . . . . . . . . . . . . . . . 4 120085448 31786;rs7687613 A G 105.79 . #_unique_end_positions=,16;#_unique_start_positions=,15;AC=3;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1997;AF_ESP_clinvar_20171029_hg19=,0.0731;AF_EXAC_clinvar_20171029_hg19=,0.04434;AF_TGP_clinvar_20171029_hg19=,0.0839;ALLELEID_clinvar_20171029_hg19=,40446;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0389;AN=3;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.36;CAF_dbsnp_common_v150_hg19_refseq=,0.9161|0.08387;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|not_provided;CLNHGVS_clinvar_20171029_hg19=,NC_000004.11:g.120085448A>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:35488|Leiden_Muscular_Dystrophy_pages_(MYOZ2):MYOZ2_00004;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_016599.4:c.459A>G;Coding_region_change_in_longest_transcript=,NM_016599.4:c.459A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0387;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0219;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,21;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,MYOZ2:51778;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:51778;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:51778;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:1330;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:1330;Homo_sapiens_refseq_GRCh37.p13_Genes=,MYOZ2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_016599.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene10350;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna15243;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:605602;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:605602;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene10350;QUAL=,114.82184407782083;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,120085448;RS_dbsnp_common_v150_hg19_refseq=,7687613;Read_count=,17;Read_coverage=,34;Read_direction_test_probability=,0.7543587299877391;Read_position_test_probability=,0.8029755405063475;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_016599.4;Reverse_read_coverage=,13;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0695;SF=3,23,38;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.901195|0.0988049;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05016800030515053f100100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.15625;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0176991;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.0121951;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.0574713;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0465116;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0352941;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.210227;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.0625;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.293706;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.0170455;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.216814;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.998;db_xref=,GeneID:51778|HGNC:HGNC:1330|MIM:605602;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:05724;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_016599.4|HPRD:05724;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,myozenin_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MYOZ2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MYOZ2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,C4orf5|CMH16|CS-1;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,myozenin_2;transcript_id=,NM_016599.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYOZ2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYOZ2:NM_016599:exon5:c.A459G:p.E153E;cytoBand=4q26;genomicSuperDups=.;esp6500siv2_all=0.0731;esp6500siv2_ea=0.0248;esp6500siv2_all=0.0731;esp6500siv2_ea=0.0248;1000g2015aug_all=0.0838658;avsnp147=rs7687613;Kaviar_AF=0.0428714;Kaviar_AC=6628;Kaviar_AN=154602;ExAC_ALL=0.0443;ExAC_AFR=0.1769;ExAC_AMR=0.0360;ExAC_EAS=0.0339;ExAC_FIN=0.0212;ExAC_NFE=0.0251;ExAC_OTH=0.0474;ExAC_SAS=0.0594;CLNALLELEID=40446;CLNDN=Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_16|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3151204,OMIM:613838|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0890;dpsi_zscore=0.449;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0420;gnomAD_exome_AFR=0.1786;gnomAD_exome_AMR=0.0361;gnomAD_exome_ASJ=0.0329;gnomAD_exome_EAS=0.0357;gnomAD_exome_FIN=0.0222;gnomAD_exome_NFE=0.0257;gnomAD_exome_OTH=0.0387;gnomAD_exome_SAS=0.0611;gnomAD_genome_ALL=0.0673;gnomAD_genome_AFR=0.1711;gnomAD_genome_AMR=0.0322;gnomAD_genome_ASJ=0.0497;gnomAD_genome_EAS=0.0382;gnomAD_genome_FIN=0.0220;gnomAD_genome_NFE=0.0257;gnomAD_genome_OTH=0.0275;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . 1:32:0,17 . . . . . . . . . . . . . . . . . . . 1:48:0,19 . . . . . . . . . . . . . . 1:31:0,12 . . . 4 186423637 138675;rs4635850 G A 185.16 . #_unique_end_positions=,53;#_unique_start_positions=,42;AC=67;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3132;ALLELEID_clinvar_20171029_hg19=,142378;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7896;AN=67;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.26;CAF_dbsnp_common_v150_hg19_refseq=,0.3405|0.6595;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000004.11:g.186423637G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001114107.4:c.762C>T|_NM_001257962.1:c.642C>T|_NM_001257963.1:c.405C>T|_NM_014476.5:c.906C>T;Coding_region_change_in_longest_transcript=,NM_014476.5:c.906C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.8125;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.8250;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,24;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,PDLIM3:27295;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:27295;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:27295;Genotype=,A/A;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:20767;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:20767;Homo_sapiens_refseq_GRCh37.p13_Genes=,PDLIM3;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001257963.1|NM_001257962.1|NM_001114107.4|NM_014476.5|NR_047562.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene10876;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna15873|rna15875|rna15877|rna15876|rna15874;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:605889;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:605889;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene10876;QUAL=,159.54589770191004;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,186423637;RS_dbsnp_common_v150_hg19_refseq=,4635850;Read_count=,77;Read_coverage=,77;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001257963.1|NM_001257962.1|NM_001114107.4|NM_014476.5|NR_047562.1;Reverse_read_coverage=,53;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7076;SF=0,1,2,3,4,5,6,7,8,9,10,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.364276|0.635724;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05016800030517053f100100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.377551;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.902655;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.829268;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.815476;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.778409;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.785714;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.827381;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.322222;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.734694;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.34965;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.727273;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.240909;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.169;db_xref=,GeneID:27295|HGNC:HGNC:20767|MIM:605889;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001257963.1|Genbank:NM_001257962.1|Genbank:NM_001114107.4|Genbank:NM_014476.5|Genbank:NR_047562.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,PDZ_and_LIM_domain_3;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA|misc_RNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,PDLIM3;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,PDLIM3;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ALP;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,PDZ_and_LIM_domain_3|_transcript_variant_4|PDZ_and_LIM_domain_3|_transcript_variant_3|PDZ_and_LIM_domain_3|_transcript_variant_2|PDZ_and_LIM_domain_3|_transcript_variant_1|PDZ_and_LIM_domain_3|_transcript_variant_5;transcript_id=,NM_001257963.1|NM_001257962.1|NM_001114107.4|NM_014476.5|NR_047562.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA|transcript;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=PDLIM3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=PDLIM3:NM_001257963:exon5:c.C405T:p.V135V,PDLIM3:NM_001114107:exon7:c.C762T:p.V254V,PDLIM3:NM_001257962:exon7:c.C642T:p.V214V,PDLIM3:NM_014476:exon8:c.C906T:p.V302V;cytoBand=4q35.1;genomicSuperDups=.;esp6500siv2_all=0.6967;esp6500siv2_ea=0.8535;esp6500siv2_all=0.6967;esp6500siv2_ea=0.8535;1000g2015aug_all=0.659545;avsnp147=rs4635850;Kaviar_AF=0.778496;Kaviar_AC=120357;Kaviar_AN=154602;ExAC_ALL=0.7830;ExAC_AFR=0.3708;ExAC_AMR=0.7549;ExAC_EAS=0.8066;ExAC_FIN=0.8770;ExAC_NFE=0.8484;ExAC_OTH=0.7881;ExAC_SAS=0.7463;CLNALLELEID=142378;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.7885;gnomAD_exome_AFR=0.3658;gnomAD_exome_AMR=0.7502;gnomAD_exome_ASJ=0.7502;gnomAD_exome_EAS=0.8093;gnomAD_exome_FIN=0.8744;gnomAD_exome_NFE=0.8525;gnomAD_exome_OTH=0.7823;gnomAD_exome_SAS=0.7478;gnomAD_genome_ALL=0.7177;gnomAD_genome_AFR=0.3719;gnomAD_genome_AMR=0.7792;gnomAD_genome_ASJ=0.7450;gnomAD_genome_EAS=0.8156;gnomAD_genome_FIN=0.8817;gnomAD_genome_NFE=0.8604;gnomAD_genome_OTH=0.8;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1/1:69:0,69 1:65:0,30 1:54:0,20 1:69:0,28 1:36:0,20 1/1:71:0,71 1/1:44:0,44 1/1:49:0,49 1:60:0,20 1:69:0,29 1/1:73:0,73 . 1:70:0,30 1:60:0,27 1/1:70:0,70 1/1:71:0,71 1/1:87:0,87 1/1:85:0,85 1/1:63:0,63 1/1:64:0,64 1/1:64:0,64 1/1:79:0,79 1/1:83:0,83 1:79:0,33 1/1:68:0,68 1/1:50:0,50 1/1:58:0,58 1/1:69:0,69 1/1:96:0,96 1:75:0,40 1/1:68:0,68 1/1:42:0,42 1/1:71:0,71 1/1:42:0,42 1:47:0,24 1/1:76:0,76 1:66:0,33 1:51:0,22 1:50:0,27 1:57:0,28 1/1:66:0,66 1/1:48:0,48 4 186427735 31839;rs62347360 G A 142.56 . #_unique_end_positions=,23;#_unique_start_positions=,21;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0008;AF_ESP_clinvar_20171029_hg19=,0.0148;AF_EXAC_clinvar_20171029_hg19=,0.01721;AF_TGP_clinvar_20171029_hg19=,0.0056;ALLELEID_clinvar_20171029_hg19=,40499;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0043;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_055291.2:p.Thr245Ile|_NP_001244891.1:p.Thr157Ile|_NP_001107579.1:p.Thr197Ile|_NP_001244892.1:p.Thr78Ile;Amino_acid_change_in_longest_transcript=,NP_055291.2:p.Thr245Ile;BaseQRankSum=,-0.53;CAF_dbsnp_common_v150_hg19_refseq=,0.9944|0.005591;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C0007193|Orphanet:ORPHA217604|SNOMED_CT:195021004|MedGen:CN169374|MedGen:CN517202;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Primary_dilated_cardiomyopathy|not_specified|not_provided;CLNHGVS_clinvar_20171029_hg19=,NC_000004.11:g.186427735G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Leiden_Muscular_Dystrophy_pages_(PDLIM3):PDLIM3_00003;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001114107.4:c.590C>T|_NM_001257962.1:c.470C>T|_NM_001257963.1:c.233C>T|_NM_014476.5:c.734C>T;Coding_region_change_in_longest_transcript=,NM_014476.5:c.734C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0209;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,45;GENEINFO_dbsnp_common_v150_hg19_refseq=,PDLIM3:27295;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:27295;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:27295;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:20767;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:20767;Homo_sapiens_refseq_GRCh37.p13_Genes=,PDLIM3;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001257963.1|NM_001257962.1|NM_001114107.4|NM_014476.5|NR_047562.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene10876;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna15873|rna15875|rna15877|rna15876|rna15874;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:605889;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:605889;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene10876;QUAL=,142.55619765854985;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,186427735;RS_dbsnp_common_v150_hg19_refseq=,62347360;Read_count=,30;Read_coverage=,87;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9445447560756051;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001257963.1|NM_001257962.1|NM_001114107.4|NM_014476.5|NR_047562.1;Reverse_read_coverage=,42;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0031;SF=19;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.985748|0.0142524;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050168000a05040536100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.007;db_xref=,GeneID:27295|HGNC:HGNC:20767|MIM:605889;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001257963.1|Genbank:NM_001257962.1|Genbank:NM_001114107.4|Genbank:NM_014476.5|Genbank:NR_047562.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,PDZ_and_LIM_domain_3;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA|misc_RNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,PDLIM3;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,PDLIM3;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ALP;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,PDZ_and_LIM_domain_3|_transcript_variant_4|PDZ_and_LIM_domain_3|_transcript_variant_3|PDZ_and_LIM_domain_3|_transcript_variant_2|PDZ_and_LIM_domain_3|_transcript_variant_1|PDZ_and_LIM_domain_3|_transcript_variant_5;transcript_id=,NM_001257963.1|NM_001257962.1|NM_001114107.4|NM_014476.5|NR_047562.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA|transcript;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=PDLIM3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PDLIM3:NM_001257963:exon3:c.C233T:p.T78I,PDLIM3:NM_001114107:exon5:c.C590T:p.T197I,PDLIM3:NM_001257962:exon5:c.C470T:p.T157I,PDLIM3:NM_014476:exon6:c.C734T:p.T245I;cytoBand=4q35.1;genomicSuperDups=.;esp6500siv2_all=0.0148;esp6500siv2_ea=0.0210;esp6500siv2_all=0.0148;esp6500siv2_ea=0.0210;1000g2015aug_all=0.00559105;avsnp147=rs62347360;Kaviar_AF=0.0175095;Kaviar_AC=2707;Kaviar_AN=154602;ExAC_ALL=0.0172;ExAC_AFR=0.0041;ExAC_AMR=0.0043;ExAC_EAS=0;ExAC_FIN=0.0458;ExAC_NFE=0.0242;ExAC_OTH=0.0122;ExAC_SAS=0.0040;CLNALLELEID=40499;CLNDN=Primary_dilated_cardiomyopathy|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.049;SIFT_pred=D;Polyphen2_HDIV_score=0.075;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.128;Polyphen2_HVAR_pred=B;LRT_score=0.048;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=1.445;MutationAssessor_pred=L;FATHMM_score=2.14;FATHMM_pred=T;PROVEAN_score=-1.8;PROVEAN_pred=N;VEST3_score=0.041;CADD_raw=1.346;CADD_phred=12.51;DANN_score=0.974;fathmm-MKL_coding_score=0.179;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.058;MetaSVM_pred=T;MetaLR_score=0.035;MetaLR_pred=T;integrated_fitCons_score=0.615;integrated_confidence_value=0;GERP++_RS=5.09;phyloP7way_vertebrate=-0.044;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.427;phastCons20way_mammalian=0.007;SiPhy_29way_logOdds=11.367;GDI_full_10282015=.;dpsi_max_tissue=0.3187;dpsi_zscore=0.917;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0177;gnomAD_exome_AFR=0.0037;gnomAD_exome_AMR=0.0056;gnomAD_exome_ASJ=0.0040;gnomAD_exome_EAS=5.798e-05;gnomAD_exome_FIN=0.0492;gnomAD_exome_NFE=0.0253;gnomAD_exome_OTH=0.0137;gnomAD_exome_SAS=0.0038;gnomAD_genome_ALL=0.0217;gnomAD_genome_AFR=0.0048;gnomAD_genome_AMR=0.0060;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0495;gnomAD_genome_NFE=0.0287;gnomAD_genome_OTH=0.0193;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-10 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . 1:77:0,27 . . . . . . . . . . . . . . . . . . . . . . 4 186435393 . C T 200.00 . #_unique_end_positions=,28;#_unique_start_positions=,23;AC=1;AN=1;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.1;Coding_region_change=,NM_001114107.4:c.518+464G>A|_NM_001257962.1:c.398+31G>A|_NM_001257963.1:c.161+31G>A|_NM_014476.5:c.398+31G>A;Coding_region_change_in_longest_transcript=,NM_014476.5:c.398+31G>A;Forward_read_coverage=,31;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:27295;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:20767;Homo_sapiens_refseq_GRCh37.p13_Genes=,PDLIM3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene10876;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:605889;Non-synonymous=,-;Other_variants_within_codon=,No;QUAL=,200.0;Read_count=,40;Read_coverage=,93;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9951426893253927;Reverse_read_coverage=,62;SF=15;conservation_score=,0.813;db_xref=,GeneID:27295|HGNC:HGNC:20767|MIM:605889;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,PDZ_and_LIM_domain_3;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,PDLIM3;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ALP;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=PDLIM3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=4q35.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs770800561;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=8.241e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.499e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.2257;dpsi_zscore=0.771;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=8.123e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=1.791e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . . . . . . . . 1:89:0,38 . . . . . . . . . . . . . . . . . . . . . . . . . . 5 223646 224957;rs34635677 A T 79.19 . #_unique_end_positions=,9;#_unique_start_positions=,9;AC=2;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0328;AF_EXAC_clinvar_20171029_hg19=,0.03529;AF_TGP_clinvar_20171029_hg19=,0.0186;ALLELEID_clinvar_20171029_hg19=,226826;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0159;AN=2;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_004159.2:p.Asp38Val|_NP_001281261.1:p.Asp38Val|_NP_001317687.1:p.Asp38Val;Amino_acid_change_in_longest_transcript=,NP_004159.2:p.Asp38Val;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.9814|0.01857;CLNDISDB_clinvar_20171029_hg19=,MedGen:C0023264|OMIM:256000|Orphanet:ORPHA506|SNOMED_CT:29570005|MedGen:C0031511|OMIM:171300|MedGen:C1855008|OMIM:252011|Orphanet:ORPHA3208|MedGen:C3279992|OMIM:614165|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Leigh_syndrome|Pheochromocytoma|Mitochondrial_complex_II_deficiency|Paragangliomas_5|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000005.9:g.223646A>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:564149;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001294332.1:c.113A>T|_NM_001330758.1:c.113A>T|_NM_004168.3:c.113A>T;Coding_region_change_in_longest_transcript=,NM_004168.3:c.113A>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0318;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,5;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,SDHA:6389;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:6389;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:6389;Genotype=,A/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:10680;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:10680;Homo_sapiens_refseq_GRCh37.p13_Genes=,SDHA;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001330758.1|NM_001294332.1|NM_004168.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene10940;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna15924|rna15925|rna15923;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:600857;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:600857;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene10940;QUAL=,42.48764030565442;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,223646;RS_dbsnp_common_v150_hg19_refseq=,34635677;Read_count=,11;Read_coverage=,17;Read_direction_test_probability=,0.8961934991221426;Read_position_test_probability=,0.8540151222186725;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001330758.1|NM_001294332.1|NM_004168.3;Reverse_read_coverage=,12;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0511;SF=6,20;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.97881|0.0211896;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128000a05150536000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.009;db_xref=,GeneID:6389|HGNC:HGNC:10680|MIM:600857;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001330758.1|Genbank:NM_001294332.1|Genbank:NM_004168.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,succinate_dehydrogenase_complex_flavoprotein_subunit_A;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SDHA;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SDHA;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1GG|FP|PGL5|SDH1|SDH2|SDHF;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,succinate_dehydrogenase_complex_flavoprotein_subunit_A|_transcript_variant_3|succinate_dehydrogenase_complex_flavoprotein_subunit_A|_transcript_variant_2|succinate_dehydrogenase_complex_flavoprotein_subunit_A|_transcript_variant_1;transcript_id=,NM_001330758.1|NM_001294332.1|NM_004168.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SDHA:NM_001294332:exon2:c.A113T:p.D38V,SDHA:NM_004168:exon2:c.A113T:p.D38V;cytoBand=5p15.33;genomicSuperDups=Score\x3d0.937212\x3bName\x3dchr3:197344663;esp6500siv2_all=0.0328;esp6500siv2_ea=0.0456;esp6500siv2_all=0.0328;esp6500siv2_ea=0.0456;1000g2015aug_all=0.0185703;avsnp147=rs34635677;Kaviar_AF=0.0349931;Kaviar_AC=5410;Kaviar_AN=154602;ExAC_ALL=0.0353;ExAC_AFR=0.0062;ExAC_AMR=0.0115;ExAC_EAS=0;ExAC_FIN=0.0271;ExAC_NFE=0.0442;ExAC_OTH=0.0198;ExAC_SAS=0.0568;CLNALLELEID=226826;CLNDN=Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|Paragangliomas_5|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:C3279992,OMIM:614165|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.614;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_pred=B;LRT_score=0.023;LRT_pred=U;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=1.245;MutationAssessor_pred=L;FATHMM_score=0.25;FATHMM_pred=T;PROVEAN_score=0.31;PROVEAN_pred=N;VEST3_score=0.361;CADD_raw=0.820;CADD_phred=9.589;DANN_score=0.864;fathmm-MKL_coding_score=0.598;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.079;MetaSVM_pred=T;MetaLR_score=0.039;MetaLR_pred=T;integrated_fitCons_score=0.732;integrated_confidence_value=0;GERP++_RS=1.56;phyloP7way_vertebrate=-0.330;phyloP20way_mammalian=0.233;phastCons7way_vertebrate=0.652;phastCons20way_mammalian=0.832;SiPhy_29way_logOdds=8.397;GDI_full_10282015=.;dpsi_max_tissue=-1.1343;dpsi_zscore=-1.547;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0353;gnomAD_exome_AFR=0.0064;gnomAD_exome_AMR=0.0132;gnomAD_exome_ASJ=0.0514;gnomAD_exome_EAS=5.798e-05;gnomAD_exome_FIN=0.0253;gnomAD_exome_NFE=0.0458;gnomAD_exome_OTH=0.0308;gnomAD_exome_SAS=0.0585;gnomAD_genome_ALL=0.0291;gnomAD_genome_AFR=0.0080;gnomAD_genome_AMR=0.0227;gnomAD_genome_ASJ=0.0364;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0260;gnomAD_genome_NFE=0.0444;gnomAD_genome_OTH=0.0448;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . 1:16:0,10 . . . . . . . . . . . . . 1:40:0,17 . . . . . . . . . . . . . . . . . . . . . 5 224633 130280;rs1139424 A G 129.60 . #_unique_end_positions=,13;#_unique_start_positions=,12;AC=18;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5998;AF_ESP_clinvar_20171029_hg19=,0.2579;AF_EXAC_clinvar_20171029_hg19=,0.15290;AF_TGP_clinvar_20171029_hg19=,0.2400;ALLELEID_clinvar_20171029_hg19=,135727;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2334;AN=18;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.76|0.24;CLNDISDB_clinvar_20171029_hg19=,MedGen:C0023264|OMIM:256000|Orphanet:ORPHA506|SNOMED_CT:29570005|MedGen:C0027672|SNOMED_CT:699346009|MedGen:C0031511|OMIM:171300|MedGen:C1855008|OMIM:252011|Orphanet:ORPHA3208|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Pheochromocytoma|Mitochondrial_complex_II_deficiency|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000005.9:g.224633A>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:562108;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001294332.1:c.309A>G|_NM_001330758.1:c.309A>G|_NM_004168.3:c.309A>G;Coding_region_change_in_longest_transcript=,NM_004168.3:c.309A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0585;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1103;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,24;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,SDHA:6389;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:6389;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:6389;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:10680;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:10680;Homo_sapiens_refseq_GRCh37.p13_Genes=,SDHA;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001330758.1|NM_001294332.1|NM_004168.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene10940;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna15924|rna15925|rna15923;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:600857;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:600857;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene10940;QUAL=,88.61200868494728;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,224633;RS_dbsnp_common_v150_hg19_refseq=,1139424;Read_count=,22;Read_coverage=,63;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9708849281821719;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001330758.1|NM_001294332.1|NM_004168.3;Reverse_read_coverage=,39;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0787;SF=0,1,2,4,5,9,14,16,17,23,24,31,32,34,35,37,38,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.671784|0.328216;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050368000305150136100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.767;db_xref=,GeneID:6389|HGNC:HGNC:10680|MIM:600857;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001330758.1|Genbank:NM_001294332.1|Genbank:NM_004168.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,succinate_dehydrogenase_complex_flavoprotein_subunit_A;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SDHA;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SDHA;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1GG|FP|PGL5|SDH1|SDH2|SDHF;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,succinate_dehydrogenase_complex_flavoprotein_subunit_A|_transcript_variant_3|succinate_dehydrogenase_complex_flavoprotein_subunit_A|_transcript_variant_2|succinate_dehydrogenase_complex_flavoprotein_subunit_A|_transcript_variant_1;transcript_id=,NM_001330758.1|NM_001294332.1|NM_004168.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SDHA:NM_001294332:exon3:c.A309G:p.A103A,SDHA:NM_004168:exon3:c.A309G:p.A103A;cytoBand=5p15.33;genomicSuperDups=Score\x3d0.937212\x3bName\x3dchr3:197344663;esp6500siv2_all=0.2578;esp6500siv2_ea=0.1294;esp6500siv2_all=0.2578;esp6500siv2_ea=0.1294;1000g2015aug_all=0.240016;avsnp147=rs1139424;Kaviar_AF=0.149092;Kaviar_AC=23050;Kaviar_AN=154602;ExAC_ALL=0.1529;ExAC_AFR=0.5261;ExAC_AMR=0.1768;ExAC_EAS=0.0613;ExAC_FIN=0.0906;ExAC_NFE=0.1253;ExAC_OTH=0.1338;ExAC_SAS=0.0893;CLNALLELEID=135727;CLNDN=Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0123;dpsi_zscore=0.084;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1486;gnomAD_exome_AFR=0.5390;gnomAD_exome_AMR=0.1839;gnomAD_exome_ASJ=0.1611;gnomAD_exome_EAS=0.0599;gnomAD_exome_FIN=0.0857;gnomAD_exome_NFE=0.1261;gnomAD_exome_OTH=0.1547;gnomAD_exome_SAS=0.0891;gnomAD_genome_ALL=0.2257;gnomAD_genome_AFR=0.5261;gnomAD_genome_AMR=0.1885;gnomAD_genome_ASJ=0.1589;gnomAD_genome_EAS=0.0501;gnomAD_genome_FIN=0.0816;gnomAD_genome_NFE=0.1134;gnomAD_genome_OTH=0.1327;Whole_Blood=Whole_Blood::0.163957::-0.211354;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:51:0,17 1:93:0,28 1:64:0,29 . 1:72:0,24 1:93:0,24 . . . 1:89:0,22 . . . . 1:148:0,49 . 1:119:0,44 1:87:0,34 . . . . . 1:114:0,29 1:94:0,25 . . . . . . 1:58:0,17 1:74:0,29 . 1:88:0,27 1:88:0,25 . 1:61:0,20 1:88:0,34 . . 1:56:0,24 5 226160 130281;rs6555055 A C 195.33 . #_unique_end_positions=,25;#_unique_start_positions=,22;AC=19;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6233;AF_ESP_clinvar_20171029_hg19=,0.2710;AF_EXAC_clinvar_20171029_hg19=,0.15683;AF_TGP_clinvar_20171029_hg19=,0.2474;ALLELEID_clinvar_20171029_hg19=,135728;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2406;AN=19;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.7526|0.2474;CLNDISDB_clinvar_20171029_hg19=,MedGen:C0023264|OMIM:256000|Orphanet:ORPHA506|SNOMED_CT:29570005|MedGen:C0027672|SNOMED_CT:699346009|MedGen:C0031511|OMIM:171300|MedGen:C1855008|OMIM:252011|Orphanet:ORPHA3208|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Pheochromocytoma|Mitochondrial_complex_II_deficiency|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000005.9:g.226160A>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:562110;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001294332.1:c.475A>C|_NM_001330758.1:c.619A>C|_NM_004168.3:c.619A>C;Coding_region_change_in_longest_transcript=,NM_004168.3:c.619A>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0585;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1113;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,24;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,SDHA:6389;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:6389;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:6389;Genotype=,A/C;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:10680;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:10680;Homo_sapiens_refseq_GRCh37.p13_Genes=,SDHA;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001330758.1|NM_001294332.1|NM_004168.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene10940;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna15924|rna15925|rna15923;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:600857;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:600857;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene10940;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,226160;RS_dbsnp_common_v150_hg19_refseq=,6555055;Read_count=,37;Read_coverage=,67;Read_direction_test_probability=,0.9989078213939043;Read_position_test_probability=,0.9310964739191349;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001330758.1|NM_001294332.1|NM_004168.3;Reverse_read_coverage=,43;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0787;SF=0,1,2,4,5,9,14,16,17,23,24,30,31,32,34,35,37,38,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.671578|0.328422;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05036800030515053f100100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.602041;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.125;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.0731707;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.0764706;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.0397727;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0581395;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0174419;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.561111;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.407143;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.0965909;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.570796;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.995;db_xref=,GeneID:6389|HGNC:HGNC:10680|MIM:600857;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001330758.1|Genbank:NM_001294332.1|Genbank:NM_004168.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,succinate_dehydrogenase_complex_flavoprotein_subunit_A;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SDHA;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SDHA;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1GG|FP|PGL5|SDH1|SDH2|SDHF;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,succinate_dehydrogenase_complex_flavoprotein_subunit_A|_transcript_variant_3|succinate_dehydrogenase_complex_flavoprotein_subunit_A|_transcript_variant_2|succinate_dehydrogenase_complex_flavoprotein_subunit_A|_transcript_variant_1;transcript_id=,NM_001330758.1|NM_001294332.1|NM_004168.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SDHA:NM_001294332:exon4:c.A475C:p.R159R,SDHA:NM_004168:exon5:c.A619C:p.R207R;cytoBand=5p15.33;genomicSuperDups=Score\x3d0.937212\x3bName\x3dchr3:197344663;esp6500siv2_all=0.2710;esp6500siv2_ea=0.1359;esp6500siv2_all=0.2710;esp6500siv2_ea=0.1359;1000g2015aug_all=0.247404;avsnp147=rs6555055;Kaviar_AF=0.154228;Kaviar_AC=23844;Kaviar_AN=154602;ExAC_ALL=0.1568;ExAC_AFR=0.5378;ExAC_AMR=0.1861;ExAC_EAS=0.0622;ExAC_FIN=0.0917;ExAC_NFE=0.1279;ExAC_OTH=0.1347;ExAC_SAS=0.0902;CLNALLELEID=135728;CLNDN=Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.3709;dpsi_zscore=0.986;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1513;gnomAD_exome_AFR=0.5470;gnomAD_exome_AMR=0.1887;gnomAD_exome_ASJ=0.1646;gnomAD_exome_EAS=0.0601;gnomAD_exome_FIN=0.0861;gnomAD_exome_NFE=0.1282;gnomAD_exome_OTH=0.1569;gnomAD_exome_SAS=0.0902;gnomAD_genome_ALL=0.2255;gnomAD_genome_AFR=0.5258;gnomAD_genome_AMR=0.1885;gnomAD_genome_ASJ=0.1589;gnomAD_genome_EAS=0.05;gnomAD_genome_FIN=0.0816;gnomAD_genome_NFE=0.1135;gnomAD_genome_OTH=0.1327;Whole_Blood=Whole_Blood::0.163957::-0.211354;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:57:0,31 1:61:0,32 1:74:0,40 . 1:66:0,26 1:105:0,39 . . . 1:71:0,30 . . . . 1:130:0,74 . 1:109:0,48 1:89:0,37 . . . . . 1:96:0,40 1:105:0,49 . . . . . 1:92:0,38 1:68:0,37 1:79:0,40 . 1:87:0,38 1:86:0,50 . 1:70:0,23 1:69:0,27 . . 1:102:0,50 5 228362 130282;rs2115272 T C 127.97 . #_unique_end_positions=,20;#_unique_start_positions=,17;AC=19;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6233;AF_ESP_clinvar_20171029_hg19=,0.2716;AF_EXAC_clinvar_20171029_hg19=,0.15652;AF_TGP_clinvar_20171029_hg19=,0.2474;ALLELEID_clinvar_20171029_hg19=,135729;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2406;AN=19;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.36;CAF_dbsnp_common_v150_hg19_refseq=,0.7526|0.2474;CLNDISDB_clinvar_20171029_hg19=,MedGen:C0023264|OMIM:256000|Orphanet:ORPHA506|SNOMED_CT:29570005|MedGen:C0027672|SNOMED_CT:699346009|MedGen:C0031511|OMIM:171300|MedGen:C1855008|OMIM:252011|Orphanet:ORPHA3208|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Pheochromocytoma|Mitochondrial_complex_II_deficiency|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000005.9:g.228362T>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:562112;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001294332.1:c.540T>C|_NM_001330758.1:c.684T>C|_NM_004168.3:c.684T>C;Coding_region_change_in_longest_transcript=,NM_004168.3:c.684T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0585;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1113;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU;Forward_read_coverage=,13;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,SDHA:6389;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:6389;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:6389;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:10680;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:10680;Homo_sapiens_refseq_GRCh37.p13_Genes=,SDHA;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001330758.1|NM_001294332.1|NM_004168.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene10940;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna15924|rna15925|rna15923;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:600857;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:600857;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene10940;QUAL=,85.06558042249236;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,228362;RS_dbsnp_common_v150_hg19_refseq=,2115272;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,24;Read_coverage=,39;Read_direction_test_probability=,0.7587587317733169;Read_position_test_probability=,0.9320914474538854;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001330758.1|NM_001294332.1|NM_004168.3;Reverse_read_coverage=,26;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0787;SF=0,1,2,4,5,9,14,16,17,23,24,30,31,32,34,35,37,38,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.671406|0.328594;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050368000305150137100100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.125;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.003;db_xref=,GeneID:6389|HGNC:HGNC:10680|MIM:600857;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001330758.1|Genbank:NM_001294332.1|Genbank:NM_004168.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,succinate_dehydrogenase_complex_flavoprotein_subunit_A;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SDHA;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SDHA;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1GG|FP|PGL5|SDH1|SDH2|SDHF;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,succinate_dehydrogenase_complex_flavoprotein_subunit_A|_transcript_variant_3|succinate_dehydrogenase_complex_flavoprotein_subunit_A|_transcript_variant_2|succinate_dehydrogenase_complex_flavoprotein_subunit_A|_transcript_variant_1;transcript_id=,NM_001330758.1|NM_001294332.1|NM_004168.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SDHA:NM_001294332:exon5:c.T540C:p.N180N,SDHA:NM_004168:exon6:c.T684C:p.N228N;cytoBand=5p15.33;genomicSuperDups=Score\x3d0.937212\x3bName\x3dchr3:197344663;esp6500siv2_all=0.2716;esp6500siv2_ea=0.1360;esp6500siv2_all=0.2716;esp6500siv2_ea=0.1360;1000g2015aug_all=0.247404;avsnp147=rs2115272;Kaviar_AF=0.152249;Kaviar_AC=23538;Kaviar_AN=154602;ExAC_ALL=0.1565;ExAC_AFR=0.5364;ExAC_AMR=0.1861;ExAC_EAS=0.0626;ExAC_FIN=0.0915;ExAC_NFE=0.1275;ExAC_OTH=0.1355;ExAC_SAS=0.0901;CLNALLELEID=135729;CLNDN=Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0234;dpsi_zscore=0.158;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1513;gnomAD_exome_AFR=0.5466;gnomAD_exome_AMR=0.1888;gnomAD_exome_ASJ=0.1646;gnomAD_exome_EAS=0.0603;gnomAD_exome_FIN=0.0863;gnomAD_exome_NFE=0.1282;gnomAD_exome_OTH=0.1566;gnomAD_exome_SAS=0.0902;gnomAD_genome_ALL=0.2259;gnomAD_genome_AFR=0.5255;gnomAD_genome_AMR=0.1885;gnomAD_genome_ASJ=0.1589;gnomAD_genome_EAS=0.05;gnomAD_genome_FIN=0.0816;gnomAD_genome_NFE=0.1140;gnomAD_genome_OTH=0.1319;Whole_Blood=Whole_Blood::0.163957::-0.211354;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:38:0,24 1:32:0,13 1:63:0,31 . 1:40:0,22 1:31:0,21 . . . 1:35:0,10 . . . . 1:70:0,29 . 1:52:0,17 1:52:0,21 . . . . . 1:44:0,20 1:51:0,26 . . . . . 1:47:0,23 1:38:0,14 1:42:0,19 . 1:52:0,22 1:48:0,26 . 1:36:0,14 1:37:0,21 . . 1:43:0,25 5 231111 130283;rs1126417 T C 192.73 . #_unique_end_positions=,53;#_unique_start_positions=,46;AC=59;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7874;ALLELEID_clinvar_20171029_hg19=,135730;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6902;AN=59;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.32;CAF_dbsnp_common_v150_hg19_refseq=,0.3466|0.6534;CLNDISDB_clinvar_20171029_hg19=,MedGen:C0023264|OMIM:256000|Orphanet:ORPHA506|SNOMED_CT:29570005|MedGen:C0027672|SNOMED_CT:699346009|MedGen:C0031511|OMIM:171300|MedGen:C1855008|OMIM:252011|Orphanet:ORPHA3208|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Pheochromocytoma|Mitochondrial_complex_II_deficiency|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000005.9:g.231111T>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:560485;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001294332.1:c.747T>C|_NM_001330758.1:c.891T>C|_NM_004168.3:c.891T>C;Coding_region_change_in_longest_transcript=,NM_004168.3:c.891T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3363;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7475;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,40;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,SDHA:6389;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:6389;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:6389;Genotype=,C/C;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:10680;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:10680;Homo_sapiens_refseq_GRCh37.p13_Genes=,SDHA;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001330758.1|NM_001294332.1|NM_004168.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene10940;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna15924|rna15925|rna15923;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:600857;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:600857;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene10940;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,231111;RS_dbsnp_common_v150_hg19_refseq=,1126417;Read_count=,86;Read_coverage=,86;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001330758.1|NM_001294332.1|NM_004168.3;Reverse_read_coverage=,46;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6759;SF=0,1,2,3,4,5,6,7,8,9,10,12,13,14,15,16,17,18,19,20,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.237173|0.762827;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050368000305170536100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.994;db_xref=,GeneID:6389|HGNC:HGNC:10680|MIM:600857;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001330758.1|Genbank:NM_001294332.1|Genbank:NM_004168.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,succinate_dehydrogenase_complex_flavoprotein_subunit_A;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SDHA;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SDHA;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1GG|FP|PGL5|SDH1|SDH2|SDHF;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,succinate_dehydrogenase_complex_flavoprotein_subunit_A|_transcript_variant_3|succinate_dehydrogenase_complex_flavoprotein_subunit_A|_transcript_variant_2|succinate_dehydrogenase_complex_flavoprotein_subunit_A|_transcript_variant_1;transcript_id=,NM_001330758.1|NM_001294332.1|NM_004168.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SDHA:NM_001294332:exon6:c.T747C:p.P249P,SDHA:NM_004168:exon7:c.T891C:p.P297P;cytoBand=5p15.33;genomicSuperDups=Score\x3d0.936495\x3bName\x3dchr3:195701216;esp6500siv2_all=0.7687;esp6500siv2_ea=0.7582;esp6500siv2_all=0.7687;esp6500siv2_ea=0.7582;1000g2015aug_all=0.653355;avsnp147=rs1126417;Kaviar_AF=0.693354;Kaviar_AC=107194;Kaviar_AN=154602;ExAC_ALL=0.7078;ExAC_AFR=0.7843;ExAC_AMR=0.6455;ExAC_EAS=0.3281;ExAC_FIN=0.7652;ExAC_NFE=0.7574;ExAC_OTH=0.6872;ExAC_SAS=0.6801;CLNALLELEID=135730;CLNDN=Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.3151;dpsi_zscore=-0.875;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.7014;gnomAD_exome_AFR=0.7879;gnomAD_exome_AMR=0.6539;gnomAD_exome_ASJ=0.6961;gnomAD_exome_EAS=0.3200;gnomAD_exome_FIN=0.7581;gnomAD_exome_NFE=0.7575;gnomAD_exome_OTH=0.7124;gnomAD_exome_SAS=0.6797;gnomAD_genome_ALL=0.7402;gnomAD_genome_AFR=0.7825;gnomAD_genome_AMR=0.6516;gnomAD_genome_ASJ=0.7067;gnomAD_genome_EAS=0.3323;gnomAD_genome_FIN=0.7666;gnomAD_genome_NFE=0.7589;gnomAD_genome_OTH=0.7423;Whole_Blood=Whole_Blood::0.254076::0.353472;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1/1:75:0,75 1:130:0,68 1:105:0,50 1:122:0,43 1/1:98:0,97 1/1:114:0,114 1/1:91:0,91 1/1:97:0,97 1/1:120:0,120 1:117:0,45 1:146:0,70 . 1:108:0,53 1/1:128:0,128 1/1:164:0,164 1:127:0,58 1/1:154:0,154 1:121:0,55 1:147:0,78 1:119:0,59 1:107:0,48 . 1:180:0,89 1:130:0,62 1/1:125:0,125 1/1:96:0,96 1/1:107:0,107 1/1:167:0,167 1:154:0,74 1/1:161:0,161 1/1:115:0,115 1/1:85:0,85 1/1:121:0,121 1:113:0,51 1/1:144:0,144 1/1:117:0,117 1:101:0,43 1:103:0,50 1:102:0,51 1:110:0,58 1:113:0,51 1:114:0,53 5 233665 141242;rs142849100 C T 200.00 . #_unique_end_positions=,29;#_unique_start_positions=,23;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0051;AF_EXAC_clinvar_20171029_hg19=,0.00702;AF_TGP_clinvar_20171029_hg19=,0.0040;ALLELEID_clinvar_20171029_hg19=,150956;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0043;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.09;CAF_dbsnp_common_v150_hg19_refseq=,0.996|.|0.003994;CLNDISDB_clinvar_20171029_hg19=,MedGen:C0023264|OMIM:256000|Orphanet:ORPHA506|SNOMED_CT:29570005|MedGen:C0027672|SNOMED_CT:699346009|MedGen:C0031511|OMIM:171300|MedGen:C1855008|OMIM:252011|Orphanet:ORPHA3208|MedGen:C3279992|OMIM:614165|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Pheochromocytoma|Mitochondrial_complex_II_deficiency|Paragangliomas_5|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000005.9:g.233665C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:564151;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001294332.1:c.825C>T|_NM_001330758.1:c.969C>T|_NM_004168.3:c.969C>T;Coding_region_change_in_longest_transcript=,NM_004168.3:c.969C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0040;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,48;GENEINFO_dbsnp_common_v150_hg19_refseq=,SDHA:6389;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:6389;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:6389;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:10680;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:10680;Homo_sapiens_refseq_GRCh37.p13_Genes=,SDHA;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001330758.1|NM_001294332.1|NM_004168.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene10940;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna15924|rna15925|rna15923;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:600857;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:600857;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene10940;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,233665;RS_dbsnp_common_v150_hg19_refseq=,142849100;Read_count=,36;Read_coverage=,97;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.8740703693048122;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001330758.1|NM_001294332.1|NM_004168.3;Reverse_read_coverage=,49;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0133;SF=20;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.996291|.|0.00370905;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050268000305040036100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.726;db_xref=,GeneID:6389|HGNC:HGNC:10680|MIM:600857;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001330758.1|Genbank:NM_001294332.1|Genbank:NM_004168.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,succinate_dehydrogenase_complex_flavoprotein_subunit_A;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SDHA;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SDHA;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1GG|FP|PGL5|SDH1|SDH2|SDHF;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,succinate_dehydrogenase_complex_flavoprotein_subunit_A|_transcript_variant_3|succinate_dehydrogenase_complex_flavoprotein_subunit_A|_transcript_variant_2|succinate_dehydrogenase_complex_flavoprotein_subunit_A|_transcript_variant_1;transcript_id=,NM_001330758.1|NM_001294332.1|NM_004168.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SDHA:NM_001294332:exon7:c.C825T:p.G275G,SDHA:NM_004168:exon8:c.C969T:p.G323G;cytoBand=5p15.33;genomicSuperDups=Score\x3d0.936495\x3bName\x3dchr3:195701216;esp6500siv2_all=0.0051;esp6500siv2_ea=0.0074;esp6500siv2_all=0.0051;esp6500siv2_ea=0.0074;1000g2015aug_all=0.00399361;avsnp147=rs142849100;Kaviar_AF=0.0065523;Kaviar_AC=1013;Kaviar_AN=154602;ExAC_ALL=0.0070;ExAC_AFR=0.0008;ExAC_AMR=0.0022;ExAC_EAS=0;ExAC_FIN=0.0017;ExAC_NFE=0.0066;ExAC_OTH=0.0033;ExAC_SAS=0.0220;CLNALLELEID=150956;CLNDN=Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|Paragangliomas_5|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:C3279992,OMIM:614165|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0729;dpsi_zscore=-0.359;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0073;gnomAD_exome_AFR=0.0008;gnomAD_exome_AMR=0.0023;gnomAD_exome_ASJ=0.0247;gnomAD_exome_EAS=5.798e-05;gnomAD_exome_FIN=0.0017;gnomAD_exome_NFE=0.0061;gnomAD_exome_OTH=0.0077;gnomAD_exome_SAS=0.0227;gnomAD_genome_ALL=0.0042;gnomAD_genome_AFR=0.0015;gnomAD_genome_AMR=0.0060;gnomAD_genome_ASJ=0.0265;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0017;gnomAD_genome_NFE=0.0057;gnomAD_genome_OTH=0.0132;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . 1:86:0,33 . . . . . . . . . . . . . . . . . . . . . 5 233698 252904;rs144252500 G A 200.00 . #_unique_end_positions=,35;#_unique_start_positions=,28;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0009;AF_EXAC_clinvar_20171029_hg19=,0.00079;AF_TGP_clinvar_20171029_hg19=,0.0004;ALLELEID_clinvar_20171029_hg19=,247306;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AN=1;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.4;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1855008|OMIM:252011|Orphanet:ORPHA3208|MedGen:C3279992|OMIM:614165|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Mitochondrial_complex_II_deficiency|Paragangliomas_5|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000005.9:g.233698G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;Coding_region_change=,NM_001294332.1:c.858G>A|_NM_001330758.1:c.1002G>A|_NM_004168.3:c.1002G>A;Coding_region_change_in_longest_transcript=,NM_004168.3:c.1002G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0020;Exact_match=,clinvar_20171029_hg19|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,54;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:6389;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:6389;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:10680;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:10680;Homo_sapiens_refseq_GRCh37.p13_Genes=,SDHA;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001330758.1|NM_001294332.1|NM_004168.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene10940;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna15924|rna15925|rna15923;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:600857;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:600857;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene10940;QUAL=,200.0;Read_count=,47;Read_coverage=,104;Read_direction_test_probability=,0.9434624701947282;Read_position_test_probability=,0.9153381392571739;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001330758.1|NM_001294332.1|NM_004168.3;Reverse_read_coverage=,50;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=29;conservation_score=,0.368;db_xref=,GeneID:6389|HGNC:HGNC:10680|MIM:600857;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001330758.1|Genbank:NM_001294332.1|Genbank:NM_004168.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,succinate_dehydrogenase_complex_flavoprotein_subunit_A;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SDHA;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SDHA;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1GG|FP|PGL5|SDH1|SDH2|SDHF;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,succinate_dehydrogenase_complex_flavoprotein_subunit_A|_transcript_variant_3|succinate_dehydrogenase_complex_flavoprotein_subunit_A|_transcript_variant_2|succinate_dehydrogenase_complex_flavoprotein_subunit_A|_transcript_variant_1;transcript_id=,NM_001330758.1|NM_001294332.1|NM_004168.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SDHA:NM_001294332:exon7:c.G858A:p.A286A,SDHA:NM_004168:exon8:c.G1002A:p.A334A;cytoBand=5p15.33;genomicSuperDups=Score\x3d0.936495\x3bName\x3dchr3:195701216;esp6500siv2_all=0.0008;esp6500siv2_ea=0.0012;esp6500siv2_all=0.0008;esp6500siv2_ea=0.0012;1000g2015aug_all=0.000399361;avsnp147=rs144252500;Kaviar_AF=0.0008215;Kaviar_AC=127;Kaviar_AN=154602;ExAC_ALL=0.0008;ExAC_AFR=0.0002;ExAC_AMR=0.0005;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0013;ExAC_OTH=0;ExAC_SAS=0.0001;CLNALLELEID=247306;CLNDN=Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|Paragangliomas_5|not_specified;CLNDISDB=MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:C3279992,OMIM:614165|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.4338;dpsi_zscore=-1.022;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0008;gnomAD_exome_AFR=0.0001;gnomAD_exome_AMR=0.0007;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0006;gnomAD_exome_NFE=0.0015;gnomAD_exome_OTH=0.0007;gnomAD_exome_SAS=0.0001;gnomAD_genome_ALL=0.0007;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0006;gnomAD_genome_NFE=0.0011;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:88:0,40 . . . . . . . . . . . . 5 233734 130273;rs1041949 C G 191.79 . #_unique_end_positions=,25;#_unique_start_positions=,25;AC=19;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6589;AF_ESP_clinvar_20171029_hg19=,0.2824;AF_EXAC_clinvar_20171029_hg19=,0.15974;AF_TGP_clinvar_20171029_hg19=,0.2578;ALLELEID_clinvar_20171029_hg19=,135720;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2478;AN=19;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.7422|0.2578|.;CLNDISDB_clinvar_20171029_hg19=,MedGen:C0023264|OMIM:256000|Orphanet:ORPHA506|SNOMED_CT:29570005|MedGen:C0027672|SNOMED_CT:699346009|MedGen:C0031511|OMIM:171300|MedGen:C1855008|OMIM:252011|Orphanet:ORPHA3208|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Pheochromocytoma|Mitochondrial_complex_II_deficiency|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000005.9:g.233734C>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:562114;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001294332.1:c.894C>G|_NM_001330758.1:c.1038C>G|_NM_004168.3:c.1038C>G;Coding_region_change_in_longest_transcript=,NM_004168.3:c.1038C>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0585;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1113;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT;Forward_read_coverage=,34;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,SDHA:6389;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:6389;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:6389;Genotype=,C/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:10680;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:10680;Homo_sapiens_refseq_GRCh37.p13_Genes=,SDHA;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001330758.1|NM_001294332.1|NM_004168.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene10940;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna15924|rna15925|rna15923;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:600857;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:600857;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene10940;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,233734;RS_dbsnp_common_v150_hg19_refseq=,1041949;Read_count=,42;Read_coverage=,78;Read_direction_test_probability=,0.9873762745685541;Read_position_test_probability=,0.9296194295290402;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001330758.1|NM_001294332.1|NM_004168.3;Reverse_read_coverage=,44;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0787;SF=0,1,2,4,5,9,14,16,17,23,24,30,31,32,34,35,37,38,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.659111|0.340889|.;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050368000305150137100100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,1;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,1;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.768;db_xref=,GeneID:6389|HGNC:HGNC:10680|MIM:600857;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001330758.1|Genbank:NM_001294332.1|Genbank:NM_004168.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,succinate_dehydrogenase_complex_flavoprotein_subunit_A;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SDHA;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SDHA;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1GG|FP|PGL5|SDH1|SDH2|SDHF;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,succinate_dehydrogenase_complex_flavoprotein_subunit_A|_transcript_variant_3|succinate_dehydrogenase_complex_flavoprotein_subunit_A|_transcript_variant_2|succinate_dehydrogenase_complex_flavoprotein_subunit_A|_transcript_variant_1;transcript_id=,NM_001330758.1|NM_001294332.1|NM_004168.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SDHA:NM_001294332:exon7:c.C894G:p.S298S,SDHA:NM_004168:exon8:c.C1038G:p.S346S;cytoBand=5p15.33;genomicSuperDups=Score\x3d0.936495\x3bName\x3dchr3:195701216;esp6500siv2_all=0.2824;esp6500siv2_ea=0.1373;esp6500siv2_all=0.2824;esp6500siv2_ea=0.1373;1000g2015aug_all=0.257788;avsnp147=rs1041949;Kaviar_AF=0.157113;Kaviar_AC=24290;Kaviar_AN=154602;ExAC_ALL=0.1597;ExAC_AFR=0.5675;ExAC_AMR=0.1872;ExAC_EAS=0.0625;ExAC_FIN=0.0915;ExAC_NFE=0.1283;ExAC_OTH=0.1388;ExAC_SAS=0.0902;CLNALLELEID=135720;CLNDN=Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1914;dpsi_zscore=0.706;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1539;gnomAD_exome_AFR=0.5769;gnomAD_exome_AMR=0.1900;gnomAD_exome_ASJ=0.1751;gnomAD_exome_EAS=0.0603;gnomAD_exome_FIN=0.0862;gnomAD_exome_NFE=0.1285;gnomAD_exome_OTH=0.1590;gnomAD_exome_SAS=0.0902;gnomAD_genome_ALL=0.2339;gnomAD_genome_AFR=0.5549;gnomAD_genome_AMR=0.1897;gnomAD_genome_ASJ=0.17;gnomAD_genome_EAS=0.0506;gnomAD_genome_FIN=0.0816;gnomAD_genome_NFE=0.1132;gnomAD_genome_OTH=0.1316;Whole_Blood=Whole_Blood::0.169377::-0.339828;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:64:0,33 1:78:0,34 1:66:0,33 . 1:66:0,33 1:80:0,31 . . . 1:76:0,32 . . . . 1:110:0,45 . 1:107:0,53 1:99:0,45 . . . . . 1:79:0,39 1:106:0,34 . . . . . 1:92:0,49 1:52:0,22 1:84:0,34 . 1:111:0,52 1:73:0,38 . 1:71:0,26 1:73:0,34 . . 1:93:0,45 5 233750 . C A 200.00 . #_unique_end_positions=,40;#_unique_start_positions=,34;AC=1;AN=1;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.18;Coding_region_change=,NM_001294332.1:c.910C>A|_NM_001330758.1:c.1054C>A|_NM_004168.3:c.1054C>A;Coding_region_change_in_longest_transcript=,NM_004168.3:c.1054C>A;Forward_read_coverage=,60;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:6389;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:6389;Genotype=,A/C;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:10680;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:10680;Homo_sapiens_refseq_GRCh37.p13_Genes=,SDHA;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001330758.1|NM_001294332.1|NM_004168.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene10940;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna15924|rna15925|rna15923;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:600857;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:600857;Non-synonymous=,No;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene10940;QUAL=,200.0;Read_count=,58;Read_coverage=,114;Read_direction_test_probability=,0.920130690231575;Read_position_test_probability=,0.7960147814593147;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001330758.1|NM_001294332.1|NM_004168.3;Reverse_read_coverage=,54;SF=34;conservation_score=,1.0;db_xref=,GeneID:6389|HGNC:HGNC:10680|MIM:600857;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001330758.1|Genbank:NM_001294332.1|Genbank:NM_004168.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,succinate_dehydrogenase_complex_flavoprotein_subunit_A;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SDHA;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SDHA;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1GG|FP|PGL5|SDH1|SDH2|SDHF;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,succinate_dehydrogenase_complex_flavoprotein_subunit_A|_transcript_variant_3|succinate_dehydrogenase_complex_flavoprotein_subunit_A|_transcript_variant_2|succinate_dehydrogenase_complex_flavoprotein_subunit_A|_transcript_variant_1;transcript_id=,NM_001330758.1|NM_001294332.1|NM_004168.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SDHA:NM_001294332:exon7:c.C910A:p.R304R,SDHA:NM_004168:exon8:c.C1054A:p.R352R;cytoBand=5p15.33;genomicSuperDups=Score\x3d0.936495\x3bName\x3dchr3:195701216;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs746165168;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=8.236e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.498e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1737;dpsi_zscore=-0.633;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.062e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=8.957e-06;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:105:0,51 . . . . . . . 5 235364 130274;rs35277230 C T 200.00 . #_unique_end_positions=,37;#_unique_start_positions=,38;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4107;AF_ESP_clinvar_20171029_hg19=,0.1123;AF_EXAC_clinvar_20171029_hg19=,0.03240;AF_TGP_clinvar_20171029_hg19=,0.1136;ALLELEID_clinvar_20171029_hg19=,135721;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0317;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.8864|0.1136;CLNDISDB_clinvar_20171029_hg19=,MedGen:C0023264|OMIM:256000|Orphanet:ORPHA506|SNOMED_CT:29570005|MedGen:C0027672|SNOMED_CT:699346009|MedGen:C0031511|OMIM:171300|MedGen:C1855008|OMIM:252011|Orphanet:ORPHA3208|MedGen:C3279992|OMIM:614165|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Pheochromocytoma|Mitochondrial_complex_II_deficiency|Paragangliomas_5|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000005.9:g.235364C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:582337;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001294332.1:c.1026C>T|_NM_001330758.1:c.1170C>T|_NM_004168.3:c.1170C>T;Coding_region_change_in_longest_transcript=,NM_004168.3:c.1170C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0040;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,74;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,SDHA:6389;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:6389;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:6389;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:10680;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:10680;Homo_sapiens_refseq_GRCh37.p13_Genes=,SDHA;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001330758.1|NM_001294332.1|NM_004168.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene10940;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna15924|rna15925|rna15923;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:600857;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:600857;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene10940;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,235364;RS_dbsnp_common_v150_hg19_refseq=,35277230;Read_count=,71;Read_coverage=,142;Read_direction_test_probability=,0.9778482958751903;Read_position_test_probability=,0.9740000020117041;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001330758.1|NM_001294332.1|NM_004168.3;Reverse_read_coverage=,68;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=32;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.847963|0.152037;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05036808030515013e100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.263;db_xref=,GeneID:6389|HGNC:HGNC:10680|MIM:600857;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001330758.1|Genbank:NM_001294332.1|Genbank:NM_004168.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,succinate_dehydrogenase_complex_flavoprotein_subunit_A;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SDHA;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SDHA;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1GG|FP|PGL5|SDH1|SDH2|SDHF;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,succinate_dehydrogenase_complex_flavoprotein_subunit_A|_transcript_variant_3|succinate_dehydrogenase_complex_flavoprotein_subunit_A|_transcript_variant_2|succinate_dehydrogenase_complex_flavoprotein_subunit_A|_transcript_variant_1;transcript_id=,NM_001330758.1|NM_001294332.1|NM_004168.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SDHA:NM_001294332:exon8:c.C1026T:p.F342F,SDHA:NM_004168:exon9:c.C1170T:p.F390F;cytoBand=5p15.33;genomicSuperDups=Score\x3d0.936495\x3bName\x3dchr3:195701216;esp6500siv2_all=0.1123;esp6500siv2_ea=0.0035;esp6500siv2_all=0.1123;esp6500siv2_ea=0.0035;1000g2015aug_all=0.113618;avsnp147=rs35277230;Kaviar_AF=0.0312415;Kaviar_AC=4830;Kaviar_AN=154602;ExAC_ALL=0.0324;ExAC_AFR=0.3322;ExAC_AMR=0.0200;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0032;ExAC_OTH=0.0220;ExAC_SAS=0.0007;CLNALLELEID=135721;CLNDN=Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|Paragangliomas_5|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:C3279992,OMIM:614165|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0584;dpsi_zscore=-0.302;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0266;gnomAD_exome_AFR=0.3396;gnomAD_exome_AMR=0.0229;gnomAD_exome_ASJ=0.0126;gnomAD_exome_EAS=0;gnomAD_exome_FIN=4.484e-05;gnomAD_exome_NFE=0.0029;gnomAD_exome_OTH=0.0224;gnomAD_exome_SAS=0.0007;gnomAD_genome_ALL=0.0932;gnomAD_genome_AFR=0.3225;gnomAD_genome_AMR=0.0298;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0025;gnomAD_genome_OTH=0.0092;Whole_Blood=Whole_Blood::0.0487805::-0.456448;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:121:0,60 . . . . . . . . . 5 236587 224954;rs150831951;rs35964044 G T 200.00 . #_unique_end_positions=,42;#_unique_start_positions=,34;AC=2;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0008;ALLELEID_clinvar_20171029_hg19=,226823;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0231;AN=2;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.35;CAF_dbsnp_common_v150_hg19_refseq=,0.9848|.|0.01518;CLNDISDB_clinvar_20171029_hg19=,MedGen:C0023264|OMIM:256000|Orphanet:ORPHA506|SNOMED_CT:29570005|MedGen:C0031511|OMIM:171300|MedGen:C1855008|OMIM:252011|Orphanet:ORPHA3208|MedGen:C3279992|OMIM:614165|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Leigh_syndrome|Pheochromocytoma|Mitochondrial_complex_II_deficiency|Paragangliomas_5|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000005.9:g.236587G>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:564153;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001294332.1:c.1161G>T|_NM_001330758.1:c.1305G>T|_NM_004168.3:c.1305G>T;Coding_region_change_in_longest_transcript=,NM_004168.3:c.1305G>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0288;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,64;GENEINFO_dbsnp_common_v150_hg19_refseq=,SDHA:6389;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:6389;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:6389;Genotype=,G/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:10680;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:10680;Homo_sapiens_refseq_GRCh37.p13_Genes=,SDHA;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001330758.1|NM_001294332.1|NM_004168.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene10940;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna15924|rna15925|rna15923;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:600857;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:600857;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene10940;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,236587;RS_dbsnp_common_v150_hg19_refseq=,35964044;Read_count=,54;Read_coverage=,114;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9453411798983278;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001330758.1|NM_001294332.1|NM_004168.3;Reverse_read_coverage=,50;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0307;SF=7,18;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.990144|3.4343e-005|0.0098221;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050328000305040036000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.991;db_xref=,GeneID:6389|HGNC:HGNC:10680|MIM:600857;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001330758.1|Genbank:NM_001294332.1|Genbank:NM_004168.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,succinate_dehydrogenase_complex_flavoprotein_subunit_A;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SDHA;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SDHA;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1GG|FP|PGL5|SDH1|SDH2|SDHF;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,succinate_dehydrogenase_complex_flavoprotein_subunit_A|_transcript_variant_3|succinate_dehydrogenase_complex_flavoprotein_subunit_A|_transcript_variant_2|succinate_dehydrogenase_complex_flavoprotein_subunit_A|_transcript_variant_1;transcript_id=,NM_001330758.1|NM_001294332.1|NM_004168.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SDHA:NM_001294332:exon9:c.G1161T:p.L387L,SDHA:NM_004168:exon10:c.G1305T:p.L435L;cytoBand=5p15.33;genomicSuperDups=Score\x3d0.952218\x3bName\x3dchr5:1569972;esp6500siv2_all=0.0146;esp6500siv2_ea=0.0208;esp6500siv2_all=0.0146;esp6500siv2_ea=0.0208;1000g2015aug_all=0.0151757;avsnp147=rs150831951;Kaviar_AF=0.0176582;Kaviar_AC=2730;Kaviar_AN=154602;ExAC_ALL=0.0193;ExAC_AFR=0.0025;ExAC_AMR=0.0080;ExAC_EAS=0;ExAC_FIN=0.0364;ExAC_NFE=0.0235;ExAC_OTH=0.0121;ExAC_SAS=0.0242;CLNALLELEID=226823;CLNDN=Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|Paragangliomas_5|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:C3279992,OMIM:614165|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0702;dpsi_zscore=-0.349;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0190;gnomAD_exome_AFR=0.0018;gnomAD_exome_AMR=0.0099;gnomAD_exome_ASJ=0.0453;gnomAD_exome_EAS=5.798e-05;gnomAD_exome_FIN=0.0358;gnomAD_exome_NFE=0.0197;gnomAD_exome_OTH=0.0254;gnomAD_exome_SAS=0.0240;gnomAD_genome_ALL=0.0164;gnomAD_genome_AFR=0.0037;gnomAD_genome_AMR=0.0095;gnomAD_genome_ASJ=0.0298;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0395;gnomAD_genome_NFE=0.0196;gnomAD_genome_OTH=0.0255;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . 1:102:0,49 . . . . . . . . . . 1:102:0,58 . . . . . . . . . . . . . . . . . . . . . . . 5 251178 252905;rs35502109 G A 200.00 . #_unique_end_positions=,27;#_unique_start_positions=,23;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0021;AF_EXAC_clinvar_20171029_hg19=,0.00208;AF_TGP_clinvar_20171029_hg19=,0.0020;ALLELEID_clinvar_20171029_hg19=,247307;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0014;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.22;CAF_dbsnp_common_v150_hg19_refseq=,0.998|0.001997;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1855008|OMIM:252011|Orphanet:ORPHA3208|MedGen:C3279992|OMIM:614165|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Mitochondrial_complex_II_deficiency|Paragangliomas_5|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000005.9:g.251178G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001294332.1:c.1479G>A|_NM_001330758.1:c.1552-3330G>A|_NM_004168.3:c.1623G>A;Coding_region_change_in_longest_transcript=,NM_004168.3:c.1623G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0089;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,33;GENEINFO_dbsnp_common_v150_hg19_refseq=,SDHA:6389;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:6389;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:6389;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:10680;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:10680;Homo_sapiens_refseq_GRCh37.p13_Genes=,SDHA;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001294332.1|NM_004168.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene10940;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna15925|rna15923;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001627|intron_variant|SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:600857;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:600857;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene10940;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,251178;RS_dbsnp_common_v150_hg19_refseq=,35502109;Read_count=,37;Read_coverage=,79;Read_direction_test_probability=,0.9979744447054826;Read_position_test_probability=,0.7702708076098674;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001294332.1|NM_004168.3;Reverse_read_coverage=,46;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=10;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.997768|0.0022323;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050328080305040036000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:6389|HGNC:HGNC:10680|MIM:600857;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001294332.1|Genbank:NM_004168.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,succinate_dehydrogenase_complex_flavoprotein_subunit_A;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SDHA;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SDHA;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1GG|FP|PGL5|SDH1|SDH2|SDHF;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,succinate_dehydrogenase_complex_flavoprotein_subunit_A|_transcript_variant_2|succinate_dehydrogenase_complex_flavoprotein_subunit_A|_transcript_variant_1;transcript_id=,NM_001294332.1|NM_004168.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SDHA:NM_001294332:exon11:c.G1479A:p.K493K,SDHA:NM_004168:exon12:c.G1623A:p.K541K;cytoBand=5p15.33;genomicSuperDups=Score\x3d0.952218\x3bName\x3dchr5:1569972;esp6500siv2_all=0.0021;esp6500siv2_ea=0.0028;esp6500siv2_all=0.0021;esp6500siv2_ea=0.0028;1000g2015aug_all=0.00199681;avsnp147=rs35502109;Kaviar_AF=0.0019922;Kaviar_AC=308;Kaviar_AN=154602;ExAC_ALL=0.0021;ExAC_AFR=0.0008;ExAC_AMR=0.0019;ExAC_EAS=0;ExAC_FIN=0.0012;ExAC_NFE=0.0029;ExAC_OTH=0.0044;ExAC_SAS=0.0010;CLNALLELEID=247307;CLNDN=Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|Paragangliomas_5|not_specified;CLNDISDB=MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:C3279992,OMIM:614165|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0250;dpsi_zscore=-0.136;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0023;gnomAD_exome_AFR=0.0005;gnomAD_exome_AMR=0.0026;gnomAD_exome_ASJ=0.0034;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0013;gnomAD_exome_NFE=0.0029;gnomAD_exome_OTH=0.0066;gnomAD_exome_SAS=0.0012;gnomAD_genome_ALL=0.0012;gnomAD_genome_AFR=0.0005;gnomAD_genome_AMR=0.0036;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0011;gnomAD_genome_NFE=0.0015;gnomAD_genome_OTH=0.0041;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:DP:CLCAD2 . . . . . . . . . . 1:66:0,32 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 5 251469 130276;rs10039029;rs1139449 G A 163.80 . #_unique_end_positions=,20;#_unique_start_positions=,18;AC=19;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6271;ALLELEID_clinvar_20171029_hg19=,135723;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2406;AN=19;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.7516|0.2484;CLNDISDB_clinvar_20171029_hg19=,MedGen:C0023264|OMIM:256000|Orphanet:ORPHA506|SNOMED_CT:29570005|MedGen:C0027672|SNOMED_CT:699346009|MedGen:C0031511|OMIM:171300|MedGen:C1855008|OMIM:252011|Orphanet:ORPHA3208|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Pheochromocytoma|Mitochondrial_complex_II_deficiency|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000005.9:g.251469G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:562116;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001294332.1:c.1536G>A|_NM_001330758.1:c.1552-3039G>A|_NM_004168.3:c.1680G>A;Coding_region_change_in_longest_transcript=,NM_004168.3:c.1680G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0585;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1113;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,31;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,SDHA:6389;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:6389;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:6389;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:10680;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:10680;Homo_sapiens_refseq_GRCh37.p13_Genes=,SDHA;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001294332.1|NM_004168.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene10940;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna15925|rna15923;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001627|intron_variant|SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:600857;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:600857;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene10940;QUAL=,140.10107098040837;R3_dbsnp_common_v150_hg19_refseq=,R3;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,251469;RS_dbsnp_common_v150_hg19_refseq=,1139449;Read_count=,24;Read_coverage=,51;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.945475328364946;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001294332.1|NM_004168.3;Reverse_read_coverage=,20;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0787;SF=0,1,2,4,5,9,14,16,17,23,24,30,31,32,34,35,37,38,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.671612|0.328388;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x0501680c0305050136100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.417;db_xref=,GeneID:6389|HGNC:HGNC:10680|MIM:600857;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001294332.1|Genbank:NM_004168.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,succinate_dehydrogenase_complex_flavoprotein_subunit_A;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SDHA;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SDHA;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1GG|FP|PGL5|SDH1|SDH2|SDHF;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,succinate_dehydrogenase_complex_flavoprotein_subunit_A|_transcript_variant_2|succinate_dehydrogenase_complex_flavoprotein_subunit_A|_transcript_variant_1;transcript_id=,NM_001294332.1|NM_004168.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SDHA:NM_001294332:exon12:c.G1536A:p.T512T,SDHA:NM_004168:exon13:c.G1680A:p.T560T;cytoBand=5p15.33;genomicSuperDups=Score\x3d0.952218\x3bName\x3dchr5:1569972;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.248403;avsnp147=rs10039029;Kaviar_AF=0.136589;Kaviar_AC=21117;Kaviar_AN=154602;ExAC_ALL=0.1527;ExAC_AFR=0.5266;ExAC_AMR=0.1825;ExAC_EAS=0.0613;ExAC_FIN=0.0909;ExAC_NFE=0.1280;ExAC_OTH=0.1369;ExAC_SAS=0.0901;CLNALLELEID=135723;CLNDN=Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.7648;dpsi_zscore=-1.319;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1448;gnomAD_exome_AFR=0.5335;gnomAD_exome_AMR=0.1811;gnomAD_exome_ASJ=0.1610;gnomAD_exome_EAS=0.0582;gnomAD_exome_FIN=0.0844;gnomAD_exome_NFE=0.1231;gnomAD_exome_OTH=0.1519;gnomAD_exome_SAS=0.0882;gnomAD_genome_ALL=0.2252;gnomAD_genome_AFR=0.5265;gnomAD_genome_AMR=0.1854;gnomAD_genome_ASJ=0.1589;gnomAD_genome_EAS=0.0501;gnomAD_genome_FIN=0.0816;gnomAD_genome_NFE=0.1131;gnomAD_genome_OTH=0.1301;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:46:0,20 1:84:0,31 1:73:0,24 . 1:67:0,30 1:103:0,34 . . . 1:67:0,38 . . . . 1:131:0,53 . 1:68:0,38 1:102:0,49 . . . . . 1:111:0,30 1:101:0,32 . . . . . 1:95:0,39 1:61:0,22 1:64:0,20 . 1:89:0,36 1:74:0,23 . 1:68:0,23 1:74:0,29 . . 1:66:0,34 5 251541 130277;rs13070 A G 197.14 . #_unique_end_positions=,33;#_unique_start_positions=,36;AC=19;AF_EXAC_clinvar_20171029_hg19=,0.15594;AF_TGP_clinvar_20171029_hg19=,0.2484;ALLELEID_clinvar_20171029_hg19=,135724;AN=19;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.04;CAF_dbsnp_common_v150_hg19_refseq=,0.7516|0.2484;CLNDISDB_clinvar_20171029_hg19=,MedGen:C0023264|OMIM:256000|Orphanet:ORPHA506|SNOMED_CT:29570005|MedGen:C0027672|SNOMED_CT:699346009|MedGen:C0031511|OMIM:171300|MedGen:C1855008|OMIM:252011|Orphanet:ORPHA3208|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Pheochromocytoma|Mitochondrial_complex_II_deficiency|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000005.9:g.251541A>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:562118;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001294332.1:c.1608A>G|_NM_001330758.1:c.1552-2967A>G|_NM_004168.3:c.1752A>G;Coding_region_change_in_longest_transcript=,NM_004168.3:c.1752A>G;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq;Forward_read_coverage=,77;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,SDHA:6389;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:6389;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:6389;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:10680;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:10680;Homo_sapiens_refseq_GRCh37.p13_Genes=,SDHA;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001294332.1|NM_004168.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene10940;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna15925|rna15923;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001627|intron_variant|SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:600857;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:600857;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene10940;QUAL=,200.0;R3_dbsnp_common_v150_hg19_refseq=,R3;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,251541;RS_dbsnp_common_v150_hg19_refseq=,13070;Read_count=,55;Read_coverage=,114;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9995568290861371;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001294332.1|NM_004168.3;Reverse_read_coverage=,37;SAO_dbsnp_common_v150_hg19_refseq=,1;SF=0,1,2,4,5,9,14,16,17,23,24,30,31,32,34,35,37,38,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.671097|0.328903;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x0501680c0305150136100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.909;db_xref=,GeneID:6389|HGNC:HGNC:10680|MIM:600857;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001294332.1|Genbank:NM_004168.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,succinate_dehydrogenase_complex_flavoprotein_subunit_A;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SDHA;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SDHA;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1GG|FP|PGL5|SDH1|SDH2|SDHF;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,succinate_dehydrogenase_complex_flavoprotein_subunit_A|_transcript_variant_2|succinate_dehydrogenase_complex_flavoprotein_subunit_A|_transcript_variant_1;transcript_id=,NM_001294332.1|NM_004168.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SDHA:NM_001294332:exon12:c.A1608G:p.A536A,SDHA:NM_004168:exon13:c.A1752G:p.A584A;cytoBand=5p15.33;genomicSuperDups=Score\x3d0.952218\x3bName\x3dchr5:1569972;esp6500siv2_all=0.2696;esp6500siv2_ea=0.1357;esp6500siv2_all=0.2696;esp6500siv2_ea=0.1357;1000g2015aug_all=0.248403;avsnp147=rs13070;Kaviar_AF=0.0006145;Kaviar_AC=95;Kaviar_AN=154602;ExAC_ALL=0.1559;ExAC_AFR=0.5376;ExAC_AMR=0.1828;ExAC_EAS=0.0620;ExAC_FIN=0.0915;ExAC_NFE=0.1276;ExAC_OTH=0.1336;ExAC_SAS=0.0902;CLNALLELEID=135724;CLNDN=Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1184;dpsi_zscore=0.537;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1501;gnomAD_exome_AFR=0.5468;gnomAD_exome_AMR=0.1871;gnomAD_exome_ASJ=0.1636;gnomAD_exome_EAS=0.0597;gnomAD_exome_FIN=0.0859;gnomAD_exome_NFE=0.1272;gnomAD_exome_OTH=0.1558;gnomAD_exome_SAS=0.0899;gnomAD_genome_ALL=0.2261;gnomAD_genome_AFR=0.5269;gnomAD_genome_AMR=0.1902;gnomAD_genome_ASJ=0.16;gnomAD_genome_EAS=0.0501;gnomAD_genome_FIN=0.0816;gnomAD_genome_NFE=0.1137;gnomAD_genome_OTH=0.1319;Whole_Blood=Whole_Blood::0.163957::-0.211354;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:102:0,48 1:148:0,61 1:130:0,49 . 1:113:0,56 1:186:0,76 . . . 1:124:0,70 . . . . 1:200:0,84 . 1:131:0,70 1:165:0,79 . . . . . 1:200:0,71 1:211:0,77 . . . . . 1:159:0,59 1:114:0,55 1:129:0,51 . 1:159:0,67 1:136:0,45 . 1:112:0,45 1:113:0,35 . . 1:102:0,44 5 254599 224949 A T 94.65 . #_unique_end_positions=,10;#_unique_start_positions=,11;AC=19;AF_ESP_clinvar_20171029_hg19=,0.0927;AF_EXAC_clinvar_20171029_hg19=,0.15153;ALLELEID_clinvar_20171029_hg19=,226818;AN=19;Amino_acid_change=,NP_001281261.1:p.Tyr581Phe|_NP_004159.2:p.Tyr629Phe|_NP_001317687.1:p.Tyr548Phe;Amino_acid_change_in_longest_transcript=,NP_004159.2:p.Tyr629Phe;BaseQRankSum=,-0.29;CLNDISDB_clinvar_20171029_hg19=,MedGen:C0023264|OMIM:256000|Orphanet:ORPHA506|SNOMED_CT:29570005|MedGen:C0027672|SNOMED_CT:699346009|MedGen:C0031511|OMIM:171300|MedGen:C1855008|OMIM:252011|Orphanet:ORPHA3208|MedGen:C3279992|OMIM:614165|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Pheochromocytoma|Mitochondrial_complex_II_deficiency|Paragangliomas_5|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000005.9:g.254599A>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:500264;Coding_region_change=,NM_001294332.1:c.1742A>T|_NM_001330758.1:c.1643A>T|_NM_004168.3:c.1886A>T;Coding_region_change_in_longest_transcript=,NM_004168.3:c.1886A>T;Exact_match=,clinvar_20171029_hg19;Forward_read_coverage=,11;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:6389;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:6389;Genotype=,A/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:10680;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:10680;Homo_sapiens_refseq_GRCh37.p13_Genes=,SDHA;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001330758.1|NM_001294332.1|NM_004168.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene10940;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna15924|rna15925|rna15923;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:600857;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:600857;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene10940;QUAL=,70.98819230786752;Read_count=,15;Read_coverage=,26;Read_direction_test_probability=,0.99944685584103;Read_position_test_probability=,0.9124015928654845;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001330758.1|NM_001294332.1|NM_004168.3;Reverse_read_coverage=,15;SF=0,1,2,4,5,9,14,16,17,23,24,30,31,32,34,35,37,38,41;conservation_score=,0.007;db_xref=,GeneID:6389|HGNC:HGNC:10680|MIM:600857;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001330758.1|Genbank:NM_001294332.1|Genbank:NM_004168.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,succinate_dehydrogenase_complex_flavoprotein_subunit_A;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SDHA;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SDHA;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1GG|FP|PGL5|SDH1|SDH2|SDHF;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,succinate_dehydrogenase_complex_flavoprotein_subunit_A|_transcript_variant_3|succinate_dehydrogenase_complex_flavoprotein_subunit_A|_transcript_variant_2|succinate_dehydrogenase_complex_flavoprotein_subunit_A|_transcript_variant_1;transcript_id=,NM_001330758.1|NM_001294332.1|NM_004168.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SDHA:NM_001294332:exon13:c.A1742T:p.Y581F,SDHA:NM_004168:exon14:c.A1886T:p.Y629F;cytoBand=5p15.33;genomicSuperDups=Score\x3d0.952218\x3bName\x3dchr5:1569972;esp6500siv2_all=0.0927;esp6500siv2_ea=0.0448;esp6500siv2_all=0.0927;esp6500siv2_ea=0.0448;1000g2015aug_all=.;avsnp147=rs6960;Kaviar_AF=0.0751025;Kaviar_AC=11611;Kaviar_AN=154602;ExAC_ALL=0.1515;ExAC_AFR=0.5289;ExAC_AMR=0.2387;ExAC_EAS=0.0657;ExAC_FIN=0.0901;ExAC_NFE=0.1268;ExAC_OTH=0.1185;ExAC_SAS=0.0901;CLNALLELEID=226818;CLNDN=Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|Paragangliomas_5|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:C3279992,OMIM:614165|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.669;SIFT_pred=T;Polyphen2_HDIV_score=0.005;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.01;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=U;MutationTaster_score=0.999;MutationTaster_pred=P;MutationAssessor_score=1.415;MutationAssessor_pred=L;FATHMM_score=-1.36;FATHMM_pred=T;PROVEAN_score=-1.22;PROVEAN_pred=N;VEST3_score=0.263;CADD_raw=0.503;CADD_phred=7.453;DANN_score=0.643;fathmm-MKL_coding_score=0.809;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.068;MetaSVM_pred=T;MetaLR_score=0.001;MetaLR_pred=T;integrated_fitCons_score=0.732;integrated_confidence_value=0;GERP++_RS=2.85;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.117;phastCons7way_vertebrate=0.788;phastCons20way_mammalian=0.006;SiPhy_29way_logOdds=8.251;GDI_full_10282015=.;dpsi_max_tissue=-3.1994;dpsi_zscore=-2.197;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1421;gnomAD_exome_AFR=0.5338;gnomAD_exome_AMR=0.1872;gnomAD_exome_ASJ=0.1623;gnomAD_exome_EAS=0.0565;gnomAD_exome_FIN=0.0824;gnomAD_exome_NFE=0.1224;gnomAD_exome_OTH=0.1631;gnomAD_exome_SAS=0.0894;gnomAD_genome_ALL=0.2188;gnomAD_genome_AFR=0.5146;gnomAD_genome_AMR=0.1878;gnomAD_genome_ASJ=0.16;gnomAD_genome_EAS=0.0491;gnomAD_genome_FIN=0.0809;gnomAD_genome_NFE=0.1118;gnomAD_genome_OTH=0.1289;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:24:0,14 1:34:0,12 1:36:0,12 . 1:33:0,15 1:40:0,15 . . . 1:35:0,16 . . . . 1:55:0,21 . 1:49:0,22 1:45:0,19 . . . . . 1:48:0,25 1:42:0,19 . . . . . 1:40:0,20 1:17:0,3 1:36:0,8 . 1:52:0,21 1:37:0,9 . 1:45:0,11 1:35:0,12 . . 1:35:0,16 5 256472 130278;rs6961 G A 76.37 . #_unique_end_positions=,13;#_unique_start_positions=,11;AC=18;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6437;AF_ESP_clinvar_20171029_hg19=,0.2783;AF_EXAC_clinvar_20171029_hg19=,0.17160;AF_TGP_clinvar_20171029_hg19=,0.3353;ALLELEID_clinvar_20171029_hg19=,135725;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3127;AN=18;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.32;CAF_dbsnp_common_v150_hg19_refseq=,0.6647|0.3353;CLNDISDB_clinvar_20171029_hg19=,MedGen:C0023264|OMIM:256000|Orphanet:ORPHA506|SNOMED_CT:29570005|MedGen:C0027672|SNOMED_CT:699346009|MedGen:C0031511|OMIM:171300|MedGen:C1855008|OMIM:252011|Orphanet:ORPHA3208|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Pheochromocytoma|Mitochondrial_complex_II_deficiency|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000005.9:g.256472G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:562120;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001294332.1:c.1788G>A|_NM_001330758.1:c.1689G>A|_NM_004168.3:c.1932G>A;Coding_region_change_in_longest_transcript=,NM_004168.3:c.1932G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2312;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2286;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,19;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,SDHA:6389;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:6389;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:6389;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:10680;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:10680;Homo_sapiens_refseq_GRCh37.p13_Genes=,SDHA;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001330758.1|NM_001294332.1|NM_004168.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene10940;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna15924|rna15925|rna15923;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:600857;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:600857;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene10940;QUAL=,103.44251189205107;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,256472;RS_dbsnp_common_v150_hg19_refseq=,6961;Read_count=,16;Read_coverage=,31;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9484228294432063;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001330758.1|NM_001294332.1|NM_004168.3;Reverse_read_coverage=,12;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1513;SF=0,1,2,4,5,9,14,16,17,23,24,30,31,32,34,35,37,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050368000305170136100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.479;db_xref=,GeneID:6389|HGNC:HGNC:10680|MIM:600857;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001330758.1|Genbank:NM_001294332.1|Genbank:NM_004168.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,succinate_dehydrogenase_complex_flavoprotein_subunit_A;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SDHA;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SDHA;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1GG|FP|PGL5|SDH1|SDH2|SDHF;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,succinate_dehydrogenase_complex_flavoprotein_subunit_A|_transcript_variant_3|succinate_dehydrogenase_complex_flavoprotein_subunit_A|_transcript_variant_2|succinate_dehydrogenase_complex_flavoprotein_subunit_A|_transcript_variant_1;transcript_id=,NM_001330758.1|NM_001294332.1|NM_004168.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SDHA:NM_001294332:exon14:c.G1788A:p.V596V,SDHA:NM_004168:exon15:c.G1932A:p.V644V;cytoBand=5p15.33;genomicSuperDups=Score\x3d0.952218\x3bName\x3dchr5:1569972;esp6500siv2_all=0.2783;esp6500siv2_ea=0.1436;esp6500siv2_all=0.2783;esp6500siv2_ea=0.1436;1000g2015aug_all=0.335264;avsnp147=rs6961;Kaviar_AF=0.166518;Kaviar_AC=25744;Kaviar_AN=154602;ExAC_ALL=0.1716;ExAC_AFR=0.5512;ExAC_AMR=0.2069;ExAC_EAS=0.0866;ExAC_FIN=0.1133;ExAC_NFE=0.1407;ExAC_OTH=0.1484;ExAC_SAS=0.0981;CLNALLELEID=135725;CLNDN=Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1556;gnomAD_exome_AFR=0.5563;gnomAD_exome_AMR=0.1928;gnomAD_exome_ASJ=0.1670;gnomAD_exome_EAS=0.0626;gnomAD_exome_FIN=0.0895;gnomAD_exome_NFE=0.1323;gnomAD_exome_OTH=0.1601;gnomAD_exome_SAS=0.0916;gnomAD_genome_ALL=0.2417;gnomAD_genome_AFR=0.5394;gnomAD_genome_AMR=0.2049;gnomAD_genome_ASJ=0.1727;gnomAD_genome_EAS=0.0572;gnomAD_genome_FIN=0.0907;gnomAD_genome_NFE=0.1233;gnomAD_genome_OTH=0.1422;Whole_Blood=Whole_Blood::0.171875::-0.34135;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:27:0,13 1:30:0,14 1:23:0,11 . 1:17:0,7 1:23:0,12 . . . 1:33:0,12 . . . . 1:30:0,11 . 1:29:0,15 1:24:0,9 . . . . . 1:24:0,11 1:20:0,4 . . . . . 1:20:0,6 1:24:0,8 1:29:0,12 . 1:36:0,19 1:25:0,10 . 1:27:0,9 . . . 1:26:0,13 5 256509 130279;rs6962 G A 80.76 . #_unique_end_positions=,13;#_unique_start_positions=,13;AC=19;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3744;AF_ESP_clinvar_20171029_hg19=,0.1965;AF_EXAC_clinvar_20171029_hg19=,0.12979;AF_TGP_clinvar_20171029_hg19=,0.1753;ALLELEID_clinvar_20171029_hg19=,135726;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2046;AN=19;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001281261.1:p.Val609Ile|_NP_004159.2:p.Val657Ile|_NP_001317687.1:p.Val576Ile;Amino_acid_change_in_longest_transcript=,NP_004159.2:p.Val657Ile;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.8247|0.1753;CLNDISDB_clinvar_20171029_hg19=,MedGen:C0023264|OMIM:256000|Orphanet:ORPHA506|SNOMED_CT:29570005|MedGen:C0027672|SNOMED_CT:699346009|MedGen:C0031511|OMIM:171300|MedGen:C1855008|OMIM:252011|Orphanet:ORPHA3208|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Pheochromocytoma|Mitochondrial_complex_II_deficiency|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000005.9:g.256509G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:562122|UniProtKB_(protein):P31040#VAR_049217;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001294332.1:c.1825G>A|_NM_001330758.1:c.1726G>A|_NM_004168.3:c.1969G>A;Coding_region_change_in_longest_transcript=,NM_004168.3:c.1969G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0585;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1064;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,17;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,SDHA:6389;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:6389;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:6389;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:10680;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:10680;Homo_sapiens_refseq_GRCh37.p13_Genes=,SDHA;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001330758.1|NM_001294332.1|NM_004168.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene10940;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna15924|rna15925|rna15923;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:600857;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:600857;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene10940;QUAL=,89.694505554034;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,256509;RS_dbsnp_common_v150_hg19_refseq=,6962;Read_count=,16;Read_coverage=,38;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9724153877143847;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001330758.1|NM_001294332.1|NM_004168.3;Reverse_read_coverage=,21;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0767;SF=0,1,2,4,5,9,14,16,17,23,24,30,31,32,34,35,37,38,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050368000a05150537100100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.127119;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0568182;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0116279;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.366667;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.066;db_xref=,GeneID:6389|HGNC:HGNC:10680|MIM:600857;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001330758.1|Genbank:NM_001294332.1|Genbank:NM_004168.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,succinate_dehydrogenase_complex_flavoprotein_subunit_A;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SDHA;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SDHA;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1GG|FP|PGL5|SDH1|SDH2|SDHF;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,succinate_dehydrogenase_complex_flavoprotein_subunit_A|_transcript_variant_3|succinate_dehydrogenase_complex_flavoprotein_subunit_A|_transcript_variant_2|succinate_dehydrogenase_complex_flavoprotein_subunit_A|_transcript_variant_1;transcript_id=,NM_001330758.1|NM_001294332.1|NM_004168.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SDHA;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SDHA:NM_001294332:exon14:c.G1825A:p.V609I,SDHA:NM_004168:exon15:c.G1969A:p.V657I;cytoBand=5p15.33;genomicSuperDups=Score\x3d0.952218\x3bName\x3dchr5:1569972;esp6500siv2_all=0.1964;esp6500siv2_ea=0.1299;esp6500siv2_all=0.1964;esp6500siv2_ea=0.1299;1000g2015aug_all=0.175319;avsnp147=rs6962;Kaviar_AF=0.126143;Kaviar_AC=19502;Kaviar_AN=154602;ExAC_ALL=0.1298;ExAC_AFR=0.3087;ExAC_AMR=0.1609;ExAC_EAS=0.0614;ExAC_FIN=0.0897;ExAC_NFE=0.1205;ExAC_OTH=0.1123;ExAC_SAS=0.0863;CLNALLELEID=135726;CLNDN=Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.337;SIFT_pred=T;Polyphen2_HDIV_score=0.391;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.123;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=U;MutationTaster_score=0.999;MutationTaster_pred=P;MutationAssessor_score=1.07;MutationAssessor_pred=L;FATHMM_score=-1.32;FATHMM_pred=T;PROVEAN_score=-0.43;PROVEAN_pred=N;VEST3_score=0.174;CADD_raw=0.913;CADD_phred=10.15;DANN_score=0.719;fathmm-MKL_coding_score=0.941;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.065;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=4.12;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.893;phastCons7way_vertebrate=0.727;phastCons20way_mammalian=0.257;SiPhy_29way_logOdds=13.859;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1307;gnomAD_exome_AFR=0.3243;gnomAD_exome_AMR=0.1677;gnomAD_exome_ASJ=0.1516;gnomAD_exome_EAS=0.0597;gnomAD_exome_FIN=0.0856;gnomAD_exome_NFE=0.1229;gnomAD_exome_OTH=0.1346;gnomAD_exome_SAS=0.0877;gnomAD_genome_ALL=0.1616;gnomAD_genome_AFR=0.3120;gnomAD_genome_AMR=0.1615;gnomAD_genome_ASJ=0.1556;gnomAD_genome_EAS=0.0489;gnomAD_genome_FIN=0.0810;gnomAD_genome_NFE=0.1084;gnomAD_genome_OTH=0.1202;Whole_Blood=Whole_Blood::0.139946::-0.311503;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:32:0,13 1:36:0,17 1:29:0,13 . 1:20:0,9 1:34:0,15 . . . 1:34:0,12 . . . . 1:33:0,12 . 1:32:0,14 1:26:0,10 . . . . . 1:25:0,12 1:22:0,7 . . . . . 1:23:0,7 1:24:0,8 1:32:0,16 . 1:44:0,18 1:32:0,12 . 1:28:0,8 1:33:0,10 . . 1:30:0,17 5 37294473 rs1045908 T C 38.56 . #_unique_end_positions=,4;#_unique_start_positions=,3;AC=14;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1120;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3156;AN=14;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.43;CAF_dbsnp_common_v150_hg19_refseq=,0.7228|0.2772;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001278312.1:c.3696A>G|_NM_004298.3:c.3711A>G|_NM_153485.2:c.3888A>G;Coding_region_change_in_longest_transcript=,NM_004298.3:c.3711A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3829;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2972;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,4;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,NUP155:9631;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:9631;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:9631;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:8063;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:8063;Homo_sapiens_refseq_GRCh37.p13_Genes=,NUP155;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001278312.1|NM_004298.3|NM_153485.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene11234;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna16250|rna16252|rna16251;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:606694;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:606694;Non-synonymous=,No;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene11234;QUAL=,36.74880488041229;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,37294473;RS_dbsnp_common_v150_hg19_refseq=,1045908;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,4;Read_coverage=,10;Read_direction_test_probability=,0.5960087087660311;Read_position_test_probability=,0.8028513389146469;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001278312.1|NM_004298.3|NM_153485.2;Reverse_read_coverage=,6;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3436;SF=5,8,10,16,17,19,21,23,27,29,32,34,40;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.773817|0.226183;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05030000030515053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.112245;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.256637;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.35;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.370588;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.352273;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.383721;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.348837;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.172222;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.26;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.143357;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.329545;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0840708;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:9631|HGNC:HGNC:8063|MIM:606694;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:05984;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001278312.1|HPRD:05984|Genbank:NM_004298.3|Genbank:NM_153485.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,nucleoporin_155;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,NUP155;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NUP155;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ATFB15|N155;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,nucleoporin_155|_transcript_variant_3|nucleoporin_155|_transcript_variant_2|nucleoporin_155|_transcript_variant_1;transcript_id=,NM_001278312.1|NM_004298.3|NM_153485.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=NUP155;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=NUP155:NM_001278312:exon32:c.A3696G:p.L1232L,NUP155:NM_004298:exon33:c.A3711G:p.L1237L,NUP155:NM_153485:exon33:c.A3888G:p.L1296L;cytoBand=5p13.2;genomicSuperDups=.;esp6500siv2_all=0.2426;esp6500siv2_ea=0.2929;esp6500siv2_all=0.2426;esp6500siv2_ea=0.2929;1000g2015aug_all=0.277157;avsnp147=rs1045908;Kaviar_AF=0.28281;Kaviar_AC=43723;Kaviar_AN=154602;ExAC_ALL=0.3079;ExAC_AFR=0.1459;ExAC_AMR=0.3169;ExAC_EAS=0.3948;ExAC_FIN=0.2355;ExAC_NFE=0.3075;ExAC_OTH=0.3057;ExAC_SAS=0.3831;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1472;dpsi_zscore=0.610;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2941;gnomAD_exome_AFR=0.1328;gnomAD_exome_AMR=0.2906;gnomAD_exome_ASJ=0.3558;gnomAD_exome_EAS=0.3883;gnomAD_exome_FIN=0.2234;gnomAD_exome_NFE=0.2896;gnomAD_exome_OTH=0.3049;gnomAD_exome_SAS=0.3707;gnomAD_genome_ALL=0.2406;gnomAD_genome_AFR=0.1298;gnomAD_genome_AMR=0.2835;gnomAD_genome_ASJ=0.3609;gnomAD_genome_EAS=0.3792;gnomAD_genome_FIN=0.2209;gnomAD_genome_NFE=0.2895;gnomAD_genome_OTH=0.2474;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . 1:10:0,4 . . 1:18:0,7 . 1:15:0,8 . . . . . 1:11:0,4 1:11:0,2 . 1:13:0,7 . 1:17:0,9 . 1:15:0,5 . . . 1:23:0,4 . 1:23:0,5 . . 1:10:0,4 . 1/1:12:0,12 . . . . . 1:14:0,5 . 5 37333727 rs150594 A G 79.33 . #_unique_end_positions=,7;#_unique_start_positions=,5;AC=13;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.8540;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2219;AN=13;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.645|0.355;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001278312.1:c.1356T>C|_NM_004298.3:c.1179T>C|_NM_153485.2:c.1356T>C;Coding_region_change_in_longest_transcript=,NM_004298.3:c.1179T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1230;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1531;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,8;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,NUP155:9631;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:9631;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:9631;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:8063;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:8063;Homo_sapiens_refseq_GRCh37.p13_Genes=,NUP155;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001278312.1|NM_004298.3|NM_153485.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene11234;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna16250|rna16252|rna16251;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:606694;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:606694;Non-synonymous=,No;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene11234;QUAL=,42.64973685177359;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,37333727;RS_dbsnp_common_v150_hg19_refseq=,150594;Read_count=,7;Read_coverage=,14;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.6683050644963826;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001278312.1|NM_004298.3|NM_153485.2;Reverse_read_coverage=,6;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2219;SF=6,11,16,17,18,20,26,27,31,33,35,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.573528|0.426472;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05010000030517053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.765306;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.163717;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.0853659;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.1;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.221591;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0697674;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0755814;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.811111;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.22;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.695804;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.125;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.90708;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.984;db_xref=,GeneID:9631|HGNC:HGNC:8063|MIM:606694;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:05984;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001278312.1|HPRD:05984|Genbank:NM_004298.3|Genbank:NM_153485.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,nucleoporin_155;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,NUP155;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NUP155;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ATFB15|N155;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,nucleoporin_155|_transcript_variant_3|nucleoporin_155|_transcript_variant_2|nucleoporin_155|_transcript_variant_1;transcript_id=,NM_001278312.1|NM_004298.3|NM_153485.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=NUP155;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=NUP155:NM_001278312:exon13:c.T1356C:p.A452A,NUP155:NM_004298:exon13:c.T1179C:p.A393A,NUP155:NM_153485:exon13:c.T1356C:p.A452A;cytoBand=5p13.2;genomicSuperDups=.;esp6500siv2_all=0.3536;esp6500siv2_ea=0.1599;esp6500siv2_all=0.3536;esp6500siv2_ea=0.1599;1000g2015aug_all=0.355032;avsnp147=rs150594;Kaviar_AF=0.221685;Kaviar_AC=34273;Kaviar_AN=154602;ExAC_ALL=0.2343;ExAC_AFR=0.7619;ExAC_AMR=0.2341;ExAC_EAS=0.1224;ExAC_FIN=0.2121;ExAC_NFE=0.1704;ExAC_OTH=0.2209;ExAC_SAS=0.2204;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.3496;dpsi_zscore=-0.922;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2175;gnomAD_exome_AFR=0.7664;gnomAD_exome_AMR=0.2306;gnomAD_exome_ASJ=0.1817;gnomAD_exome_EAS=0.1146;gnomAD_exome_FIN=0.2062;gnomAD_exome_NFE=0.1620;gnomAD_exome_OTH=0.1998;gnomAD_exome_SAS=0.2121;gnomAD_genome_ALL=0.3383;gnomAD_genome_AFR=0.7576;gnomAD_genome_AMR=0.2302;gnomAD_genome_ASJ=0.1788;gnomAD_genome_EAS=0.1225;gnomAD_genome_FIN=0.1943;gnomAD_genome_NFE=0.1693;gnomAD_genome_OTH=0.2082;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . 1:12:0,7 . . . . 1:11:0,6 . . . . 1:30:0,17 1:23:0,10 1:15:0,5 . 1:51:0,16 . . . . . 1:32:0,15 1:23:0,12 . . . 1:18:0,10 . 1:16:0,10 . 1/1:33:0,33 . . . . . 1:36:0,18 5 37364443 rs217852 C T 101.37 . #_unique_end_positions=,17;#_unique_start_positions=,16;AC=82;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.8873;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9957;AN=82;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;CAF_dbsnp_common_v150_hg19_refseq=,0.03035|0.9696;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001278312.1:c.201G>A|_NM_004298.3:c.24G>A|_NM_153485.2:c.201G>A;Coding_region_change_in_longest_transcript=,NM_004298.3:c.24G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,1.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,1.0000;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,11;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,NUP155:9631;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:9631;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:9631;Genotype=,T/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:8063;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:8063;Homo_sapiens_refseq_GRCh37.p13_Genes=,NUP155;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001278312.1|NM_004298.3|NM_153485.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene11234;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna16250|rna16252|rna16251;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:606694;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:606694;Non-synonymous=,No;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene11234;QUAL=,89.33242954196425;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,37364443;RS_dbsnp_common_v150_hg19_refseq=,217852;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,22;Read_coverage=,22;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001278312.1|NM_004298.3|NM_153485.2;Reverse_read_coverage=,11;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,1.0000;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,32,33,34,35,36,37,38,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.0459853|0.954015;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05010000030515053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.918367;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,1;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,1;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,1;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.916667;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.951049;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.876106;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.877;db_xref=,GeneID:9631|HGNC:HGNC:8063|MIM:606694;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:05984;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001278312.1|HPRD:05984|Genbank:NM_004298.3|Genbank:NM_153485.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,nucleoporin_155;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,NUP155;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NUP155;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ATFB15|N155;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,nucleoporin_155|_transcript_variant_3|nucleoporin_155|_transcript_variant_2|nucleoporin_155|_transcript_variant_1;transcript_id=,NM_001278312.1|NM_004298.3|NM_153485.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=NUP155;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=NUP155:NM_001278312:exon2:c.G201A:p.L67L,NUP155:NM_004298:exon2:c.G24A:p.L8L,NUP155:NM_153485:exon2:c.G201A:p.L67L;cytoBand=5p13.2;genomicSuperDups=.;esp6500siv2_all=0.9663;esp6500siv2_ea=0.9999;esp6500siv2_all=0.9663;esp6500siv2_ea=0.9999;1000g2015aug_all=0.969649;avsnp147=rs217852;Kaviar_AF=0.947614;Kaviar_AC=146503;Kaviar_AN=154602;ExAC_ALL=0.9905;ExAC_AFR=0.8955;ExAC_AMR=0.9950;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=1.0000;ExAC_OTH=0.9967;ExAC_SAS=0.9999;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.9824;dpsi_zscore=1.962;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.9927;gnomAD_exome_AFR=0.8951;gnomAD_exome_AMR=0.9950;gnomAD_exome_ASJ=0.9999;gnomAD_exome_EAS=1;gnomAD_exome_FIN=1;gnomAD_exome_NFE=0.9999;gnomAD_exome_OTH=0.9987;gnomAD_exome_SAS=0.9996;gnomAD_genome_ALL=0.9711;gnomAD_genome_AFR=0.9000;gnomAD_genome_AMR=0.9869;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=1;gnomAD_genome_FIN=1;gnomAD_genome_NFE=0.9999;gnomAD_genome_OTH=0.9908;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1/1:20:0,20 1/1:14:0,14 1/1:19:0,19 1/1:17:0,17 1/1:20:0,20 1/1:20:0,20 1/1:22:0,22 1/1:22:0,22 1/1:31:0,31 1/1:36:0,36 1/1:31:0,31 1/1:18:0,18 1/1:21:0,21 1/1:31:0,31 1/1:27:0,27 1/1:25:0,25 1/1:30:0,30 1/1:35:0,35 1/1:18:0,18 1/1:17:0,17 1/1:32:0,32 1/1:32:0,32 1/1:14:0,14 1/1:25:0,25 1/1:33:0,33 1/1:19:0,19 1/1:27:0,27 1/1:29:0,29 1/1:24:0,24 1/1:18:0,18 1/1:25:0,25 . 1/1:17:0,17 1/1:17:0,17 1/1:33:0,33 1/1:23:0,23 1/1:37:0,37 1/1:19:0,19 1/1:23:0,23 1/1:21:0,21 1/1:32:0,32 1/1:11:0,11 5 37364443 rs217852 C T 101.37 . #_unique_end_positions=,17;#_unique_start_positions=,16;AC=82;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.8873;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9957;AN=82;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;CAF_dbsnp_common_v150_hg19_refseq=,0.03035|0.9696;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001278312.1:c.201G>A|_NM_004298.3:c.24G>A|_NM_153485.2:c.201G>A;Coding_region_change_in_longest_transcript=,NM_004298.3:c.24G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,1.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,1.0000;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,11;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,NUP155:9631;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:9631;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:9631;Genotype=,T/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:8063;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:8063;Homo_sapiens_refseq_GRCh37.p13_Genes=,NUP155;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001278312.1|NM_004298.3|NM_153485.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene11234;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna16250|rna16252|rna16251;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:606694;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:606694;Non-synonymous=,No;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene11234;QUAL=,89.33242954196425;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,37364443;RS_dbsnp_common_v150_hg19_refseq=,217852;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,22;Read_coverage=,22;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001278312.1|NM_004298.3|NM_153485.2;Reverse_read_coverage=,11;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,1.0000;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,32,33,34,35,36,37,38,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.0459853|0.954015;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05010000030515053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.918367;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,1;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,1;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,1;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.916667;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.951049;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.876106;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.877;db_xref=,GeneID:9631|HGNC:HGNC:8063|MIM:606694;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:05984;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001278312.1|HPRD:05984|Genbank:NM_004298.3|Genbank:NM_153485.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,nucleoporin_155;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,NUP155;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NUP155;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ATFB15|N155;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,nucleoporin_155|_transcript_variant_3|nucleoporin_155|_transcript_variant_2|nucleoporin_155|_transcript_variant_1;transcript_id=,NM_001278312.1|NM_004298.3|NM_153485.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=NUP155;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=NUP155:NM_001278312:exon2:c.G201A:p.L67L,NUP155:NM_004298:exon2:c.G24A:p.L8L,NUP155:NM_153485:exon2:c.G201A:p.L67L;cytoBand=5p13.2;genomicSuperDups=.;esp6500siv2_all=0.9663;esp6500siv2_ea=0.9999;esp6500siv2_all=0.9663;esp6500siv2_ea=0.9999;1000g2015aug_all=0.969649;avsnp147=rs217852;Kaviar_AF=0.947614;Kaviar_AC=146503;Kaviar_AN=154602;ExAC_ALL=0.9905;ExAC_AFR=0.8955;ExAC_AMR=0.9950;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=1.0000;ExAC_OTH=0.9967;ExAC_SAS=0.9999;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.9824;dpsi_zscore=1.962;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.9927;gnomAD_exome_AFR=0.8951;gnomAD_exome_AMR=0.9950;gnomAD_exome_ASJ=0.9999;gnomAD_exome_EAS=1;gnomAD_exome_FIN=1;gnomAD_exome_NFE=0.9999;gnomAD_exome_OTH=0.9987;gnomAD_exome_SAS=0.9996;gnomAD_genome_ALL=0.9711;gnomAD_genome_AFR=0.9000;gnomAD_genome_AMR=0.9869;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=1;gnomAD_genome_FIN=1;gnomAD_genome_NFE=0.9999;gnomAD_genome_OTH=0.9908;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1/1:20:0,20 1/1:14:0,14 1/1:19:0,19 1/1:17:0,17 1/1:20:0,20 1/1:20:0,20 1/1:22:0,22 1/1:22:0,22 1/1:31:0,31 1/1:36:0,36 1/1:31:0,31 1/1:18:0,18 1/1:21:0,21 1/1:31:0,31 1/1:27:0,27 1/1:25:0,25 1/1:30:0,30 1/1:35:0,35 1/1:18:0,18 1/1:17:0,17 1/1:32:0,32 1/1:32:0,32 1/1:14:0,14 1/1:25:0,25 1/1:33:0,33 1/1:19:0,19 1/1:27:0,27 1/1:29:0,29 1/1:24:0,24 1/1:18:0,18 1/1:25:0,25 . 1/1:17:0,17 1/1:17:0,17 1/1:33:0,33 1/1:23:0,23 1/1:37:0,37 1/1:19:0,19 1/1:23:0,23 1/1:21:0,21 1/1:32:0,32 1/1:11:0,11 5 155771510 202085;rs549319429 G C 101.03 . #_unique_end_positions=,13;#_unique_start_positions=,11;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_EXAC_clinvar_20171029_hg19=,0.00138;AF_TGP_clinvar_20171029_hg19=,0.0014;ALLELEID_clinvar_20171029_hg19=,198172;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001121681.1:p.Glu4Asp|_NP_000328.2:p.Glu5Asp|_NP_758447.1:p.Glu5Asp;Amino_acid_change_in_longest_transcript=,NP_000328.2:p.Glu5Asp;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.9986|.|0.001398;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN072428|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Delta-sarcoglycanopathy|not_specified|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000005.9:g.155771510G>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:164107;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000337.5:c.15G>C|_NM_001128209.1:c.12G>C|_NM_172244.2:c.15G>C;Coding_region_change_in_longest_transcript=,NM_000337.5:c.15G>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,26;GENEINFO_dbsnp_common_v150_hg19_refseq=,SGCD:6444;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:6444;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:6444;Genotype=,C/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:10807;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:10807;Homo_sapiens_refseq_GRCh37.p13_Genes=,SGCD;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_172244.2|NM_001128209.1|NM_000337.5;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene12545;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna18159|rna18158|rna18157;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:601411;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:601411;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene12545;QUAL=,101.02887566961903;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,155771510;RS_dbsnp_common_v150_hg19_refseq=,549319429;Read_count=,20;Read_coverage=,41;Read_direction_test_probability=,0.9995546252244838;Read_position_test_probability=,0.8156767930771254;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_172244.2|NM_001128209.1|NM_000337.5;Reverse_read_coverage=,15;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0072;SF=4;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.99976|.|0.000240401;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050000000b05040026000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.991;db_xref=,GeneID:6444|HGNC:HGNC:10807|MIM:601411;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:03246;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_172244.2|HPRD:03246|Genbank:NM_001128209.1|Genbank:NM_000337.5;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,sarcoglycan_delta;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SGCD;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SGCD;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,35DAG|CMD1L|DAGD|SG-delta|SGCDP|SGD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,sarcoglycan_delta|_transcript_variant_2|sarcoglycan_delta|_transcript_variant_3|sarcoglycan_delta|_transcript_variant_1;transcript_id=,NM_172244.2|NM_001128209.1|NM_000337.5;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SGCD;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SGCD:NM_001128209:exon2:c.G12C:p.E4D,SGCD:NM_000337:exon3:c.G15C:p.E5D,SGCD:NM_172244:exon3:c.G15C:p.E5D;cytoBand=5q33.3;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.00139776;avsnp147=rs549319429;Kaviar_AF=0.0011772;Kaviar_AC=182;Kaviar_AN=154602;ExAC_ALL=0.0014;ExAC_AFR=0;ExAC_AMR=8.643e-05;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0003;ExAC_OTH=0;ExAC_SAS=0.0090;CLNALLELEID=198172;CLNDN=Limb-girdle_muscular_dystrophy,_type_2F|Delta-sarcoglycanopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=MedGen:C1832525,OMIM:601287,Orphanet:ORPHA219|MedGen:CN072428|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.011;SIFT_pred=D;Polyphen2_HDIV_score=0.02;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.016;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=0.998;MutationTaster_pred=D;MutationAssessor_score=1.905;MutationAssessor_pred=M;FATHMM_score=1.14;FATHMM_pred=T;PROVEAN_score=-1.15;PROVEAN_pred=N;VEST3_score=0.196;CADD_raw=3.009;CADD_phred=22.3;DANN_score=0.996;fathmm-MKL_coding_score=0.810;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.474;MetaSVM_pred=T;MetaLR_score=0.533;MetaLR_pred=D;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=-1.12;phyloP7way_vertebrate=0.091;phyloP20way_mammalian=-0.148;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=0.997;SiPhy_29way_logOdds=7.297;GDI_full_10282015=.;dpsi_max_tissue=2.0628;dpsi_zscore=1.987;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0011;gnomAD_exome_AFR=0;gnomAD_exome_AMR=9.996e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0002;gnomAD_exome_OTH=0.0004;gnomAD_exome_SAS=0.0082;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-4 GT:DP:CLCAD2 . . . . 1:32:0,14 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 5 155771579 48125;rs1801193 T C 173.52 . #_unique_end_positions=,27;#_unique_start_positions=,27;AC=39;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2436;AF_ESP_clinvar_20171029_hg19=,0.3777;AF_EXAC_clinvar_20171029_hg19=,0.46605;AF_TGP_clinvar_20171029_hg19=,0.4854;ALLELEID_clinvar_20171029_hg19=,57289;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4640;AN=39;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.05;CAF_dbsnp_common_v150_hg19_refseq=,0.5146|0.4854;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN072428|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Delta-sarcoglycanopathy|not_specified|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000005.9:g.155771579T>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:38589;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000337.5:c.84T>C|_NM_001128209.1:c.81T>C|_NM_172244.2:c.84T>C;Coding_region_change_in_longest_transcript=,NM_000337.5:c.84T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7937;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4473;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,33;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,SGCD:6444;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:6444;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:6444;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:10807;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:10807;Homo_sapiens_refseq_GRCh37.p13_Genes=,SGCD;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_172244.2|NM_001128209.1|NM_000337.5;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene12545;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna18159|rna18158|rna18157;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:601411;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:601411;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene12545;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,155771579;RS_dbsnp_common_v150_hg19_refseq=,1801193;Read_count=,36;Read_coverage=,67;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9390221126183261;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_172244.2|NM_001128209.1|NM_000337.5;Reverse_read_coverage=,34;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5491;SF=1,2,3,5,6,7,8,9,10,11,12,13,15,16,17,18,20,22,23,25,27,28,29,30,31,33,35,36,37,38,39;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.622982|0.377018;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05012800030517053e000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.978;db_xref=,GeneID:6444|HGNC:HGNC:10807|MIM:601411;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:03246;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_172244.2|HPRD:03246|Genbank:NM_001128209.1|Genbank:NM_000337.5;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,sarcoglycan_delta;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SGCD;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SGCD;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,35DAG|CMD1L|DAGD|SG-delta|SGCDP|SGD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,sarcoglycan_delta|_transcript_variant_2|sarcoglycan_delta|_transcript_variant_3|sarcoglycan_delta|_transcript_variant_1;transcript_id=,NM_172244.2|NM_001128209.1|NM_000337.5;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SGCD;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SGCD:NM_001128209:exon2:c.T81C:p.Y27Y,SGCD:NM_000337:exon3:c.T84C:p.Y28Y,SGCD:NM_172244:exon3:c.T84C:p.Y28Y;cytoBand=5q33.3;genomicSuperDups=.;esp6500siv2_all=0.3777;esp6500siv2_ea=0.4316;esp6500siv2_all=0.3777;esp6500siv2_ea=0.4316;1000g2015aug_all=0.485423;avsnp147=rs1801193;Kaviar_AF=0.453118;Kaviar_AC=70053;Kaviar_AN=154602;ExAC_ALL=0.4660;ExAC_AFR=0.2672;ExAC_AMR=0.4421;ExAC_EAS=0.7835;ExAC_FIN=0.4539;ExAC_NFE=0.4360;ExAC_OTH=0.5167;ExAC_SAS=0.5586;CLNALLELEID=57289;CLNDN=Limb-girdle_muscular_dystrophy,_type_2F|Delta-sarcoglycanopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=MedGen:C1832525,OMIM:601287,Orphanet:ORPHA219|MedGen:CN072428|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.5221;dpsi_zscore=1.788;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.4678;gnomAD_exome_AFR=0.2630;gnomAD_exome_AMR=0.4426;gnomAD_exome_ASJ=0.4838;gnomAD_exome_EAS=0.7780;gnomAD_exome_FIN=0.4625;gnomAD_exome_NFE=0.4309;gnomAD_exome_OTH=0.4644;gnomAD_exome_SAS=0.5574;gnomAD_genome_ALL=0.4085;gnomAD_genome_AFR=0.2660;gnomAD_genome_AMR=0.4760;gnomAD_genome_ASJ=0.5298;gnomAD_genome_EAS=0.7884;gnomAD_genome_FIN=0.4499;gnomAD_genome_NFE=0.4331;gnomAD_genome_OTH=0.4290;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-10 GT:DP:CLCAD2 . 1:59:0,33 1:41:0,17 1:63:0,33 . 1:49:0,19 1/1:51:0,51 1/1:45:0,45 1:59:0,32 1:58:0,31 1:63:0,39 1:57:0,36 1:73:0,40 1:56:0,27 . 1/1:51:0,51 1:44:0,19 1/1:38:0,38 1/1:48:0,48 . 1:68:0,38 . 1:67:0,31 1:66:0,33 . 1/1:50:0,50 . 1:60:0,29 1/1:45:0,45 1:62:0,43 1:77:0,46 1:45:0,23 . 1:45:0,19 . 1:54:0,26 1/1:42:0,42 1:32:0,16 1:42:0,20 1:62:0,29 . . 5 155935687 . A T 59.59 . #_unique_end_positions=,11;#_unique_start_positions=,10;AC=1;AN=1;Amino_acid_change=,NP_001121681.1:p.Tyr89Phe|_NP_758447.1:p.Tyr90Phe|_NP_000328.2:p.Tyr90Phe;Amino_acid_change_in_longest_transcript=,NP_000328.2:p.Tyr90Phe;BaseQRankSum=,0.0;Coding_region_change=,NM_000337.5:c.269A>T|_NM_001128209.1:c.266A>T|_NM_172244.2:c.269A>T;Coding_region_change_in_longest_transcript=,NM_000337.5:c.269A>T;Forward_read_coverage=,16;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:6444;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:6444;Genotype=,A/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:10807;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:10807;Homo_sapiens_refseq_GRCh37.p13_Genes=,SGCD;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_172244.2|NM_001128209.1|NM_000337.5;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene12545;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna18159|rna18158|rna18157;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:601411;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:601411;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene12545;QUAL=,59.594052216977296;Read_count=,15;Read_coverage=,25;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.6545336792011669;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_172244.2|NM_001128209.1|NM_000337.5;Reverse_read_coverage=,9;SF=22;conservation_score=,1.0;db_xref=,GeneID:6444|HGNC:HGNC:10807|MIM:601411;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:03246;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_172244.2|HPRD:03246|Genbank:NM_001128209.1|Genbank:NM_000337.5;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,sarcoglycan_delta;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SGCD;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SGCD;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,35DAG|CMD1L|DAGD|SG-delta|SGCDP|SGD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,sarcoglycan_delta|_transcript_variant_2|sarcoglycan_delta|_transcript_variant_3|sarcoglycan_delta|_transcript_variant_1;transcript_id=,NM_172244.2|NM_001128209.1|NM_000337.5;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SGCD;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SGCD:NM_001128209:exon3:c.A266T:p.Y89F,SGCD:NM_000337:exon4:c.A269T:p.Y90F,SGCD:NM_172244:exon4:c.A269T:p.Y90F;cytoBand=5q33.3;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.073;SIFT_pred=T;Polyphen2_HDIV_score=0.998;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.987;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=1.96;MutationAssessor_pred=M;FATHMM_score=-3.66;FATHMM_pred=D;PROVEAN_score=-1.94;PROVEAN_pred=N;VEST3_score=0.494;CADD_raw=4.725;CADD_phred=24.6;DANN_score=0.988;fathmm-MKL_coding_score=0.985;fathmm-MKL_coding_pred=D;MetaSVM_score=0.856;MetaSVM_pred=D;MetaLR_score=0.878;MetaLR_pred=D;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.49;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.028;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=14.450;GDI_full_10282015=.;dpsi_max_tissue=-0.0965;dpsi_zscore=-0.438;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=7 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . 1:19:0,11 . . . . . . . . . . . . . . . . . . . 5 155935708 48117;rs45559835 G A 71.24 . #_unique_end_positions=,10;#_unique_start_positions=,10;AC=7;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0030;AF_ESP_clinvar_20171029_hg19=,0.0479;AF_EXAC_clinvar_20171029_hg19=,0.04509;AF_TGP_clinvar_20171029_hg19=,0.0190;ALLELEID_clinvar_20171029_hg19=,57281;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0317;AN=7;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001121681.1:p.Arg96Gln|_NP_758447.1:p.Arg97Gln|_NP_000328.2:p.Arg97Gln;Amino_acid_change_in_longest_transcript=,NP_000328.2:p.Arg97Gln;BaseQRankSum=,0.35;CAF_dbsnp_common_v150_hg19_refseq=,0.981|0.01897;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1832525|OMIM:601287|Orphanet:ORPHA219|MedGen:CN072428|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Limb-girdle_muscular_dystrophy|_type_2F|Delta-sarcoglycanopathy|not_specified|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000005.9:g.155935708G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:56949;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000337.5:c.290G>A|_NM_001128209.1:c.287G>A|_NM_172244.2:c.290G>A;Coding_region_change_in_longest_transcript=,NM_000337.5:c.290G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0517;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,10;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,SGCD:6444;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:6444;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:6444;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:10807;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:10807;Homo_sapiens_refseq_GRCh37.p13_Genes=,SGCD;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_172244.2|NM_001128209.1|NM_000337.5;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene12545;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna18159|rna18158|rna18157;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:601411;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:601411;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene12545;QUAL=,81.38937069372975;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,155935708;RS_dbsnp_common_v150_hg19_refseq=,45559835;Read_count=,10;Read_coverage=,25;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.7087419310098125;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_172244.2|NM_001128209.1|NM_000337.5;Reverse_read_coverage=,15;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0174;SF=9,12,17,23,30,38,39;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.964524|0.0354763;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128000a05150536000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:6444|HGNC:HGNC:10807|MIM:601411;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:03246;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_172244.2|HPRD:03246|Genbank:NM_001128209.1|Genbank:NM_000337.5;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,sarcoglycan_delta;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SGCD;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SGCD;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,35DAG|CMD1L|DAGD|SG-delta|SGCDP|SGD;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,sarcoglycan_delta|_transcript_variant_2|sarcoglycan_delta|_transcript_variant_3|sarcoglycan_delta|_transcript_variant_1;transcript_id=,NM_172244.2|NM_001128209.1|NM_000337.5;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SGCD;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SGCD:NM_001128209:exon3:c.G287A:p.R96Q,SGCD:NM_000337:exon4:c.G290A:p.R97Q,SGCD:NM_172244:exon4:c.G290A:p.R97Q;cytoBand=5q33.3;genomicSuperDups=.;esp6500siv2_all=0.0479;esp6500siv2_ea=0.0642;esp6500siv2_all=0.0479;esp6500siv2_ea=0.0642;1000g2015aug_all=0.0189696;avsnp147=rs45559835;Kaviar_AF=0.0441327;Kaviar_AC=6823;Kaviar_AN=154602;ExAC_ALL=0.0451;ExAC_AFR=0.0106;ExAC_AMR=0.0316;ExAC_EAS=0.0002;ExAC_FIN=0.0442;ExAC_NFE=0.0635;ExAC_OTH=0.0473;ExAC_SAS=0.0223;CLNALLELEID=57281;CLNDN=Limb-girdle_muscular_dystrophy,_type_2F|Delta-sarcoglycanopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=MedGen:C1832525,OMIM:601287,Orphanet:ORPHA219|MedGen:CN072428|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.062;SIFT_pred=T;Polyphen2_HDIV_score=0.975;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.308;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.996;MutationTaster_pred=D;MutationAssessor_score=2.395;MutationAssessor_pred=M;FATHMM_score=-3.77;FATHMM_pred=D;PROVEAN_score=-2.76;PROVEAN_pred=D;VEST3_score=0.223;CADD_raw=7.006;CADD_phred=33;DANN_score=0.999;fathmm-MKL_coding_score=0.910;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.123;MetaSVM_pred=T;MetaLR_score=0.337;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=5.49;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.902;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=12.283;GDI_full_10282015=.;dpsi_max_tissue=-0.5917;dpsi_zscore=-1.178;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM163260#"Altered_mechanical_stability";gnomAD_exome_ALL=0.0452;gnomAD_exome_AFR=0.0090;gnomAD_exome_AMR=0.0335;gnomAD_exome_ASJ=0.0780;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0.0436;gnomAD_exome_NFE=0.0636;gnomAD_exome_OTH=0.0552;gnomAD_exome_SAS=0.0204;gnomAD_genome_ALL=0.0387;gnomAD_genome_AFR=0.0099;gnomAD_genome_AMR=0.0274;gnomAD_genome_ASJ=0.0828;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0447;gnomAD_genome_NFE=0.0574;gnomAD_genome_OTH=0.0480;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-3 GT:DP:CLCAD2 . . . . . . . . . 1:21:0,10 . . 1:21:0,7 . . . . 1:26:0,11 . . . . . 1:16:0,7 . . . . . . 1:27:0,14 . . . . . . . 1:17:0,6 1:27:0,15 . . 5 172662024 44837;rs2277923 T C 193.39 . #_unique_end_positions=,56;#_unique_start_positions=,39;AC=25;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7254;AF_ESP_clinvar_20171029_hg19=,0.4042;AF_EXAC_clinvar_20171029_hg19=,0.40522;ALLELEID_clinvar_20171029_hg19=,54004;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5058;AN=25;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.46;CAF_dbsnp_common_v150_hg19_refseq=,0.4643|0.5357;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000005.9:g.172662024T>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001166175.1:c.63A>G|_NM_001166176.1:c.63A>G|_NM_004387.3:c.63A>G;Coding_region_change_in_longest_transcript=,NM_001166175.1:c.63A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6339;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2823;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,69;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,NKX2-5:1482;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:1482;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:1482;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:2488;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:2488;Homo_sapiens_refseq_GRCh37.p13_Genes=,NKX2-5;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_004387.3|NM_001166176.1|NM_001166175.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene12697;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna18374|rna18375|rna18376;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:600584;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:600584;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene12697;QUAL=,200.0;R5_dbsnp_common_v150_hg19_refseq=,R5;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,172662024;RS_dbsnp_common_v150_hg19_refseq=,2277923;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,109;Read_coverage=,242;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.8475958879445018;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_004387.3|NM_001166176.1|NM_001166175.1;Reverse_read_coverage=,173;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4601;SF=3,4,7,10,11,12,13,14,15,16,23,25,26,29,30,31,36,37,38,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.517172|0.482828;TPA_dbsnp_common_v150_hg19_refseq=,TPA;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05013802030517053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.293103;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.566667;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.693182;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.779661;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:1482|HGNC:HGNC:2488|MIM:600584;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:02787;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_004387.3|HPRD:02787|Genbank:NM_001166176.1|Genbank:NM_001166175.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,NK2_homeobox_5;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,NKX2-5;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NKX2-5;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CHNG5|CSX|CSX1|HLHS2|NKX2.5|NKX2E|NKX4-1|VSD3;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NK2_homeobox_5|_transcript_variant_1|NK2_homeobox_5|_transcript_variant_3|NK2_homeobox_5|_transcript_variant_2;transcript_id=,NM_004387.3|NM_001166176.1|NM_001166175.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=NKX2-5;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=NKX2-5:NM_001166175:exon1:c.A63G:p.E21E,NKX2-5:NM_001166176:exon1:c.A63G:p.E21E,NKX2-5:NM_004387:exon1:c.A63G:p.E21E;cytoBand=5q35.1;genomicSuperDups=.;esp6500siv2_all=0.4042;esp6500siv2_ea=0.2813;esp6500siv2_all=0.4042;esp6500siv2_ea=0.2813;1000g2015aug_all=0.535743;avsnp147=rs2277923;Kaviar_AF=0.0015847;Kaviar_AC=245;Kaviar_AN=154602;ExAC_ALL=0.4052;ExAC_AFR=0.6732;ExAC_AMR=0.5651;ExAC_EAS=0.6318;ExAC_FIN=0.4350;ExAC_NFE=0.3027;ExAC_OTH=0.4068;ExAC_SAS=0.4076;CLNALLELEID=54004;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM1312416#"Cardiac_disease_modifier_of";gnomAD_exome_ALL=0.4071;gnomAD_exome_AFR=0.6714;gnomAD_exome_AMR=0.5486;gnomAD_exome_ASJ=0.3066;gnomAD_exome_EAS=0.6342;gnomAD_exome_FIN=0.4317;gnomAD_exome_NFE=0.2975;gnomAD_exome_OTH=0.3702;gnomAD_exome_SAS=0.4027;gnomAD_genome_ALL=0.4347;gnomAD_genome_AFR=0.6523;gnomAD_genome_AMR=0.5276;gnomAD_genome_ASJ=0.2483;gnomAD_genome_EAS=0.6380;gnomAD_genome_FIN=0.4174;gnomAD_genome_NFE=0.2926;gnomAD_genome_OTH=0.3704;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . 1:224:0,99 1:115:0,62 . . 1:234:0,113 . . 1:252:0,124 1:255:0,113 1:299:0,144 1:233:0,104 1:317:0,147 1:287:0,141 1:259:0,129 . . . . . . 1/1:286:0,286 . 1/1:201:0,201 1/1:214:0,214 . . 1:339:0,180 1:287:0,118 1:156:0,73 . . . . 1:202:0,109 1:145:0,75 1/1:194:0,194 . . 1/1:183:0,182 6 7542253 36016;rs77445784 G A 200.00 . #_unique_end_positions=,54;#_unique_start_positions=,51;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0062;AF_EXAC_clinvar_20171029_hg19=,0.00940;AF_TGP_clinvar_20171029_hg19=,0.0034;ALLELEID_clinvar_20171029_hg19=,44680;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0072;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.25;CAF_dbsnp_common_v150_hg19_refseq=,0.9966|0.003395;CLNDISDB_clinvar_20171029_hg19=,MedGen:C0878544|Orphanet:ORPHA167848|SNOMED_CT:85898001|MedGen:C1843292|OMIM:607655|Orphanet:ORPHA293165|MedGen:C1843896|OMIM:607450|MedGen:C1854063|OMIM:605676|Orphanet:ORPHA65282|MedGen:C1858302|OMIM:604536|Orphanet:ORPHA158668|MedGen:C1864826|OMIM:609638|Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN239181;CLNDN_clinvar_20171029_hg19=,Cardiomyopathy|Skin_fragility_woolly_hair_syndrome|Arrhythmogenic_right_ventricular_cardiomyopathy|_type_8|Cardiomyopathy_dilated_with_woolly_hair_and_keratoderma|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa|_lethal_acantholytic|not_specified|Cardiomyopathy|_ARVC;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.7542253G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_conflicting_interpretations;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Genetics_Diagnostic_Laboratory|Children's_Hospital_of_Eastern_Ontario_(CHEO):319128|Illumina_Clinical_Services_Laboratory|Illumina:129723;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001008844.2:c.105G>A|_NM_001319034.1:c.105G>A|_NM_004415.3:c.105G>A;Coding_region_change_in_longest_transcript=,NM_004415.3:c.105G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0119;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,135;GENEINFO_dbsnp_common_v150_hg19_refseq=,LOC101928076:101928076|DSP:1832;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:1832;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:1832;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:3052;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:3052;Homo_sapiens_refseq_GRCh37.p13_Genes=,DSP;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001008844.2|NM_001319034.1|NM_004415.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene13004;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna18827|rna18826|rna18825;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:125647;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:125647;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene13004;QUAL=,200.0;R5_dbsnp_common_v150_hg19_refseq=,R5;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,7542253;RS_dbsnp_common_v150_hg19_refseq=,77445784;Read_count=,136;Read_coverage=,251;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.8747494397668722;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001008844.2|NM_001319034.1|NM_004415.3;Reverse_read_coverage=,116;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=8;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.994917|0.00508277;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x0501680a0305040036100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.971;db_xref=,GeneID:1832|HGNC:HGNC:3052|MIM:125647;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001008844.2|Genbank:NM_001319034.1|Genbank:NM_004415.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,desmoplakin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,DSP;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,DSP;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,DCWHKTA|DP;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,desmoplakin|_transcript_variant_2|desmoplakin|_transcript_variant_3|desmoplakin|_transcript_variant_1;transcript_id=,NM_001008844.2|NM_001319034.1|NM_004415.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DSP:NM_001008844:exon1:c.G105A:p.G35G,DSP:NM_004415:exon1:c.G105A:p.G35G;cytoBand=6p24.3;genomicSuperDups=.;esp6500siv2_all=0.0062;esp6500siv2_ea=0.0087;esp6500siv2_all=0.0062;esp6500siv2_ea=0.0087;1000g2015aug_all=0.00339457;avsnp147=rs77445784;Kaviar_AF=0.0050452;Kaviar_AC=780;Kaviar_AN=154602;ExAC_ALL=0.0094;ExAC_AFR=0.0023;ExAC_AMR=0.0088;ExAC_EAS=0;ExAC_FIN=0.0043;ExAC_NFE=0.0160;ExAC_OTH=0.0140;ExAC_SAS=0.0015;CLNALLELEID=44680;CLNDN=Cardiomyopathy|Skin_fragility_woolly_hair_syndrome|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_8|Dilated_cardiomyopathy_with_woolly_hair_and_keratoderma|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiomyopathy,_ARVC;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1843896,OMIM:607450|MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN239181;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0053;gnomAD_exome_AFR=0.0019;gnomAD_exome_AMR=0.0050;gnomAD_exome_ASJ=0.0012;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0018;gnomAD_exome_NFE=0.0095;gnomAD_exome_OTH=0.0067;gnomAD_exome_SAS=0.0009;gnomAD_genome_ALL=0.0032;gnomAD_genome_AFR=0.0021;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0011;gnomAD_genome_NFE=0.0049;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:DP:CLCAD2 . . . . . . . . 1:214:0,113 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6 7542274 44855;rs36087964 T C 200.00 . #_unique_end_positions=,67;#_unique_start_positions=,62;AC=4;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1165;AF_ESP_clinvar_20171029_hg19=,0.0667;AF_EXAC_clinvar_20171029_hg19=,0.09798;AF_TGP_clinvar_20171029_hg19=,0.0609;ALLELEID_clinvar_20171029_hg19=,54022;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0403;AN=4;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,1.15;CAF_dbsnp_common_v150_hg19_refseq=,0.9391|0.0609;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1843292|OMIM:607655|Orphanet:ORPHA293165|MedGen:C1858302|OMIM:604536|Orphanet:ORPHA158668|MedGen:C1864826|OMIM:609638|Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN239181;CLNDN_clinvar_20171029_hg19=,Skin_fragility_woolly_hair_syndrome|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa|_lethal_acantholytic|not_specified|Cardiomyopathy|_ARVC;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.7542274T>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:65562;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001008844.2:c.126T>C|_NM_001319034.1:c.126T>C|_NM_004415.3:c.126T>C;Coding_region_change_in_longest_transcript=,NM_004415.3:c.126T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0248;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0577;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,130;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,DSP:1832|LOC101928076:101928076;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:1832;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:1832;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:3052;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:3052;Homo_sapiens_refseq_GRCh37.p13_Genes=,DSP;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001008844.2|NM_001319034.1|NM_004415.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene13004;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna18827|rna18826|rna18825;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:125647;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:125647;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene13004;QUAL=,200.0;R5_dbsnp_common_v150_hg19_refseq=,R5;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,7542274;RS_dbsnp_common_v150_hg19_refseq=,36087964;Read_count=,140;Read_coverage=,269;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9951280979272392;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001008844.2|NM_001319034.1|NM_004415.3;Reverse_read_coverage=,139;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0409;SF=15,29,30,40;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.916409|0.0835909;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x0501280a030515053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.132653;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0530973;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.0121951;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.00588235;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.0284091;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0581395;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.116667;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.02;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.0944056;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.0625;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.10177;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.981;db_xref=,GeneID:1832|HGNC:HGNC:3052|MIM:125647;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001008844.2|Genbank:NM_001319034.1|Genbank:NM_004415.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,desmoplakin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,DSP;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,DSP;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,DCWHKTA|DP;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,desmoplakin|_transcript_variant_2|desmoplakin|_transcript_variant_3|desmoplakin|_transcript_variant_1;transcript_id=,NM_001008844.2|NM_001319034.1|NM_004415.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DSP:NM_001008844:exon1:c.T126C:p.Y42Y,DSP:NM_004415:exon1:c.T126C:p.Y42Y;cytoBand=6p24.3;genomicSuperDups=.;esp6500siv2_all=0.0667;esp6500siv2_ea=0.0524;esp6500siv2_all=0.0667;esp6500siv2_ea=0.0524;1000g2015aug_all=0.0609026;avsnp147=rs36087964;Kaviar_AF=0.0413449;Kaviar_AC=6392;Kaviar_AN=154602;ExAC_ALL=0.0980;ExAC_AFR=0.1685;ExAC_AMR=0.0678;ExAC_EAS=0.0358;ExAC_FIN=0.1736;ExAC_NFE=0.1147;ExAC_OTH=0.0966;ExAC_SAS=0.0604;CLNALLELEID=54022;CLNDN=Skin_fragility_woolly_hair_syndrome|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0546;gnomAD_exome_AFR=0.1094;gnomAD_exome_AMR=0.0326;gnomAD_exome_ASJ=0.1100;gnomAD_exome_EAS=0.0168;gnomAD_exome_FIN=0.0594;gnomAD_exome_NFE=0.0557;gnomAD_exome_OTH=0.0659;gnomAD_exome_SAS=0.0499;gnomAD_genome_ALL=0.0638;gnomAD_genome_AFR=0.0974;gnomAD_genome_AMR=0.0406;gnomAD_genome_ASJ=0.0993;gnomAD_genome_EAS=0.0173;gnomAD_genome_FIN=0.0533;gnomAD_genome_NFE=0.0529;gnomAD_genome_OTH=0.0540;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . . . . . . . 1:246:0,126 . . . . . . . . . . . . . 1:298:0,139 1:198:0,99 . . . . . . . . . 1:222:0,118 . 6 7556046 . T TGCA 200.00 . #_unique_end_positions=,19;#_unique_start_positions=,17;AC=1;AN=1;Amino_acid_change=,NP_004406.2:p.Gln90_Pro91insGln|_NP_001305963.1:p.Gln90_Pro91insGln|_NP_001008844.1:p.Gln90_Pro91insGln;Amino_acid_change_in_longest_transcript=,NP_004406.2:p.Gln90_Pro91insGln;BaseQRankSum=,0.64;Coding_region_change=,NM_001008844.2:c.269_271dup|_NM_001319034.1:c.269_271dup|_NM_004415.3:c.269_271dup;Coding_region_change_in_longest_transcript=,NM_004415.3:c.269_271dup;Forward_read_coverage=,16;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:1832;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:1832;Genotype=,complex;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:3052;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:3052;Homo_sapiens_refseq_GRCh37.p13_Genes=,DSP;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001008844.2|NM_001319034.1|NM_004415.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene13004;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna18827|rna18826|rna18825;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:125647;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:125647;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene13004;QUAL=,200.0;Read_count=,22;Read_coverage=,34;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.954022417984326;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001008844.2|NM_001319034.1|NM_004415.3;Reverse_read_coverage=,18;SF=6;Start_by_3'_rule=,7556051;Symbols_by_3'_rule=,7556051:_AGC;db_xref=,GeneID:1832|HGNC:HGNC:3052|MIM:125647;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001008844.2|Genbank:NM_001319034.1|Genbank:NM_004415.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,desmoplakin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,DSP;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,DSP;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,DCWHKTA|DP;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,desmoplakin|_transcript_variant_2|desmoplakin|_transcript_variant_3|desmoplakin|_transcript_variant_1;transcript_id=,NM_001008844.2|NM_001319034.1|NM_004415.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=nonframeshift_insertion;AAChange.refGene=DSP:NM_001008844:exon2:c.266_267insGCA:p.V89delinsVQ,DSP:NM_004415:exon2:c.266_267insGCA:p.V89delinsVQ;cytoBand=6p24.3;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . 1:30:0,20 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6 7563008 . G A 200.00 . #_unique_end_positions=,25;#_unique_start_positions=,22;AC=1;AN=1;Amino_acid_change=,NP_001305963.1:p.Asp241Asn|_NP_004406.2:p.Asp241Asn|_NP_001008844.1:p.Asp241Asn;Amino_acid_change_in_longest_transcript=,NP_004406.2:p.Asp241Asn;BaseQRankSum=,0.28;Coding_region_change=,NM_001008844.2:c.721G>A|_NM_001319034.1:c.721G>A|_NM_004415.3:c.721G>A;Coding_region_change_in_longest_transcript=,NM_004415.3:c.721G>A;Forward_read_coverage=,48;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:1832;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:1832;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:3052;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:3052;Homo_sapiens_refseq_GRCh37.p13_Genes=,DSP;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001008844.2|NM_001319034.1|NM_004415.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene13004;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna18827|rna18826|rna18825;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:125647;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:125647;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene13004;QUAL=,200.0;Read_count=,37;Read_coverage=,102;Read_direction_test_probability=,0.8699945945872819;Read_position_test_probability=,0.9826316635888529;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001008844.2|NM_001319034.1|NM_004415.3;Reverse_read_coverage=,54;SF=15;conservation_score=,1.0;db_xref=,GeneID:1832|HGNC:HGNC:3052|MIM:125647;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001008844.2|Genbank:NM_001319034.1|Genbank:NM_004415.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,desmoplakin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,DSP;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,DSP;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,DCWHKTA|DP;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,desmoplakin|_transcript_variant_2|desmoplakin|_transcript_variant_3|desmoplakin|_transcript_variant_1;transcript_id=,NM_001008844.2|NM_001319034.1|NM_004415.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DSP:NM_001008844:exon5:c.G721A:p.D241N,DSP:NM_004415:exon5:c.G721A:p.D241N;cytoBand=6p24.3;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs868293429;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.01;SIFT_pred=D;Polyphen2_HDIV_score=0.321;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.025;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=1;MutationAssessor_pred=L;FATHMM_score=-2.38;FATHMM_pred=D;PROVEAN_score=-1.89;PROVEAN_pred=N;VEST3_score=0.1;CADD_raw=7.167;CADD_phred=34;DANN_score=0.999;fathmm-MKL_coding_score=0.985;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.332;MetaSVM_pred=T;MetaLR_score=0.378;MetaLR_pred=T;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=5.76;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.993;phastCons20way_mammalian=0.894;SiPhy_29way_logOdds=19.976;GDI_full_10282015=.;dpsi_max_tissue=-0.9155;dpsi_zscore=-1.421;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.063e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=5.798e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=7 GT:DP:CLCAD2 . . . . . . . . . . . . . . . 1:92:0,34 . . . . . . . . . . . . . . . . . . . . . . . . . . 6 7563983 44952;rs2806234 T G 149.01 . #_unique_end_positions=,41;#_unique_start_positions=,32;AC=84;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,1.0000;ALLELEID_clinvar_20171029_hg19=,54119;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,1.0000;AN=84;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.7563983T>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_single_submitter;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;Coding_region_change=,NM_001008844.2:c.741T>G|_NM_001319034.1:c.741T>G|_NM_004415.3:c.741T>G;Coding_region_change_in_longest_transcript=,NM_004415.3:c.741T>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,1.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,1.0000;Exact_match=,clinvar_20171029_hg19|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,37;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:1832;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:1832;Genotype=,G/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:3052;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:3052;Homo_sapiens_refseq_GRCh37.p13_Genes=,DSP;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001008844.2|NM_001319034.1|NM_004415.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene13004;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna18827|rna18826|rna18825;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:125647;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:125647;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene13004;QUAL=,200.0;Read_count=,56;Read_coverage=,56;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001008844.2|NM_001319034.1|NM_004415.3;Reverse_read_coverage=,19;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,1.0000;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,1;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,1;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,1;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,1;conservation_score=,0.123;db_xref=,GeneID:1832|HGNC:HGNC:3052|MIM:125647;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001008844.2|Genbank:NM_001319034.1|Genbank:NM_004415.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,desmoplakin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,DSP;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,DSP;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,DCWHKTA|DP;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,desmoplakin|_transcript_variant_2|desmoplakin|_transcript_variant_3|desmoplakin|_transcript_variant_1;transcript_id=,NM_001008844.2|NM_001319034.1|NM_004415.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DSP:NM_001008844:exon6:c.T741G:p.A247A,DSP:NM_004415:exon6:c.T741G:p.A247A;cytoBand=6p24.3;genomicSuperDups=.;esp6500siv2_all=0.9985;esp6500siv2_ea=0.9981;esp6500siv2_all=0.9985;esp6500siv2_ea=0.9981;1000g2015aug_all=1;avsnp147=rs2806234;Kaviar_AF=0.964399;Kaviar_AC=149098;Kaviar_AN=154602;ExAC_ALL=0.9991;ExAC_AFR=0.9997;ExAC_AMR=1;ExAC_EAS=1;ExAC_FIN=0.9994;ExAC_NFE=0.9985;ExAC_OTH=1;ExAC_SAS=0.9999;CLNALLELEID=54119;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0379;dpsi_zscore=-0.208;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.9992;gnomAD_exome_AFR=0.9997;gnomAD_exome_AMR=1.0000;gnomAD_exome_ASJ=0.9991;gnomAD_exome_EAS=1;gnomAD_exome_FIN=0.9993;gnomAD_exome_NFE=0.9986;gnomAD_exome_OTH=0.9995;gnomAD_exome_SAS=1.0000;gnomAD_genome_ALL=0.9995;gnomAD_genome_AFR=0.9999;gnomAD_genome_AMR=1;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=1;gnomAD_genome_FIN=0.9991;gnomAD_genome_NFE=0.9992;gnomAD_genome_OTH=0.9990;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1/1:53:0,53 1/1:37:0,37 1/1:36:0,36 1/1:38:0,38 1/1:45:0,45 1/1:38:0,38 1/1:29:0,29 1/1:52:0,52 1/1:31:0,31 1/1:32:0,32 1/1:60:0,60 1/1:37:0,37 1/1:33:0,33 1/1:57:0,57 1/1:66:0,66 1/1:39:0,39 1/1:52:0,52 1/1:52:0,52 1/1:40:0,40 1/1:40:0,40 1/1:38:0,38 1/1:55:0,55 1/1:29:0,29 1/1:39:0,39 1/1:59:0,59 1/1:23:0,23 1/1:33:0,33 1/1:58:0,58 1/1:52:0,52 1/1:65:0,65 1/1:50:0,50 1/1:31:0,31 1/1:36:0,36 1/1:34:0,34 1/1:35:0,35 1/1:53:0,53 1/1:45:0,45 1/1:32:0,32 1/1:22:0,22 1/1:36:0,36 1/1:34:0,34 1/1:41:0,41 6 7565727 36026;rs17604693 A T 200.00 . #_unique_end_positions=,37;#_unique_start_positions=,37;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0015;AF_ESP_clinvar_20171029_hg19=,0.0297;AF_EXAC_clinvar_20171029_hg19=,0.02993;AF_TGP_clinvar_20171029_hg19=,0.0184;ALLELEID_clinvar_20171029_hg19=,44690;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0159;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001008844.1:p.Ile305Phe|_NP_004406.2:p.Ile305Phe|_NP_001305963.1:p.Ile305Phe;Amino_acid_change_in_longest_transcript=,NP_004406.2:p.Ile305Phe;BaseQRankSum=,0.59;CAF_dbsnp_common_v150_hg19_refseq=,0.9816|.|0.01837;CLNDISDB_clinvar_20171029_hg19=,MedGen:C0349788|Orphanet:ORPHA247|SNOMED_CT:253528005|SNOMED_CT:281170005|MedGen:C0878544|Orphanet:ORPHA167848|SNOMED_CT:85898001|MedGen:C0949658|Orphanet:ORPHA155|SNOMED_CT:83978005|MedGen:C1843292|OMIM:607655|Orphanet:ORPHA293165|MedGen:C1843896|OMIM:607450|MedGen:C1854063|OMIM:605676|Orphanet:ORPHA65282|MedGen:C1858302|OMIM:604536|Orphanet:ORPHA158668|MedGen:C1864826|OMIM:609638|Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNDN_clinvar_20171029_hg19=,Arrhythmogenic_right_ventricular_cardiomyopathy|Cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Skin_fragility_woolly_hair_syndrome|Arrhythmogenic_right_ventricular_cardiomyopathy|_type_8|Cardiomyopathy_dilated_with_woolly_hair_and_keratoderma|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa|_lethal_acantholytic|not_specified|Cardiovascular_phenotype|Cardiomyopathy|_ARVC;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.7565727A>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_conflicting_interpretations;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:39144|UniProtKB_(protein):P15924#VAR_033862;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001008844.2:c.913A>T|_NM_001319034.1:c.913A>T|_NM_004415.3:c.913A>T;Coding_region_change_in_longest_transcript=,NM_004415.3:c.913A>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0408;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-TSI;Forward_read_coverage=,67;GENEINFO_dbsnp_common_v150_hg19_refseq=,DSP:1832;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:1832;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:1832;Genotype=,A/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:3052;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:3052;Homo_sapiens_refseq_GRCh37.p13_Genes=,DSP;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001008844.2|NM_001319034.1|NM_004415.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene13004;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna18827|rna18826|rna18825;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:125647;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:125647;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene13004;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,7565727;RS_dbsnp_common_v150_hg19_refseq=,17604693;Read_count=,67;Read_coverage=,141;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9959896141035629;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001008844.2|NM_001319034.1|NM_004415.3;Reverse_read_coverage=,74;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0389;SF=28;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.968336|.|0.0316643;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050368000a05140537100101;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.039823;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.0113636;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.02;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.0454545;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.995;db_xref=,GeneID:1832|HGNC:HGNC:3052|MIM:125647;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001008844.2|Genbank:NM_001319034.1|Genbank:NM_004415.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,desmoplakin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,DSP;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,DSP;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,DCWHKTA|DP;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,desmoplakin|_transcript_variant_2|desmoplakin|_transcript_variant_3|desmoplakin|_transcript_variant_1;transcript_id=,NM_001008844.2|NM_001319034.1|NM_004415.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DSP:NM_001008844:exon7:c.A913T:p.I305F,DSP:NM_004415:exon7:c.A913T:p.I305F;cytoBand=6p24.3;genomicSuperDups=.;esp6500siv2_all=0.0297;esp6500siv2_ea=0.0419;esp6500siv2_all=0.0297;esp6500siv2_ea=0.0419;1000g2015aug_all=0.0183706;avsnp147=rs17604693;Kaviar_AF=0.0303877;Kaviar_AC=4698;Kaviar_AN=154602;ExAC_ALL=0.0299;ExAC_AFR=0.0062;ExAC_AMR=0.0141;ExAC_EAS=0.0003;ExAC_FIN=0.0227;ExAC_NFE=0.0394;ExAC_OTH=0.0297;ExAC_SAS=0.0362;CLNALLELEID=44690;CLNDN=Cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Skin_fragility_woolly_hair_syndrome|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_8|Dilated_cardiomyopathy_with_woolly_hair_and_keratoderma|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1843896,OMIM:607450|MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.004;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.869;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=2.22;MutationAssessor_pred=M;FATHMM_score=-3.52;FATHMM_pred=D;PROVEAN_score=-2.03;PROVEAN_pred=N;VEST3_score=0.243;CADD_raw=5.980;CADD_phred=27.8;DANN_score=0.990;fathmm-MKL_coding_score=0.993;fathmm-MKL_coding_pred=D;MetaSVM_score=0.905;MetaSVM_pred=D;MetaLR_score=0.860;MetaLR_pred=D;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=5.55;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.199;phastCons7way_vertebrate=0.997;phastCons20way_mammalian=0.998;SiPhy_29way_logOdds=15.71;GDI_full_10282015=.;dpsi_max_tissue=-0.0712;dpsi_zscore=-0.352;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM150219#"Arrhythmogenic_right_ventricular_cardiomyopathy";gnomAD_exome_ALL=0.0297;gnomAD_exome_AFR=0.0065;gnomAD_exome_AMR=0.0152;gnomAD_exome_ASJ=0.0450;gnomAD_exome_EAS=0.0003;gnomAD_exome_FIN=0.0238;gnomAD_exome_NFE=0.0397;gnomAD_exome_OTH=0.0323;gnomAD_exome_SAS=0.0365;gnomAD_genome_ALL=0.0246;gnomAD_genome_AFR=0.0063;gnomAD_genome_AMR=0.0179;gnomAD_genome_ASJ=0.0563;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0201;gnomAD_genome_NFE=0.0387;gnomAD_genome_OTH=0.0245;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=8 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:121:0,56 . . . . . . . . . . . . . 6 7572262 44870;rs2076304 A G 184.68 . #_unique_end_positions=,23;#_unique_start_positions=,20;AC=68;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.8230;ALLELEID_clinvar_20171029_hg19=,54037;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7925;AN=68;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.2256|0.7744;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.7572262A>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_single_submitter;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001008844.2:c.2091A>G|_NM_001319034.1:c.2091A>G|_NM_004415.3:c.2091A>G;Coding_region_change_in_longest_transcript=,NM_004415.3:c.2091A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.8026;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7664;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,26;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,DSP:1832;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:1832;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:1832;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:3052;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:3052;Homo_sapiens_refseq_GRCh37.p13_Genes=,DSP;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001008844.2|NM_001319034.1|NM_004415.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene13004;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna18827|rna18826|rna18825;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:125647;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:125647;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene13004;QUAL=,139.54589770191004;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,7572262;RS_dbsnp_common_v150_hg19_refseq=,2076304;Read_count=,30;Read_coverage=,79;Read_direction_test_probability=,0.4742456165749155;Read_position_test_probability=,0.3561320721903567;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001008844.2|NM_001319034.1|NM_004415.3;Reverse_read_coverage=,53;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6748;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,22,23,24,25,26,27,28,29,30,31,33,34,35,36,37,38,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.215983|0.784017;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05016800030517053e100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.007;db_xref=,GeneID:1832|HGNC:HGNC:3052|MIM:125647;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001008844.2|Genbank:NM_001319034.1|Genbank:NM_004415.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,desmoplakin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,DSP;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,DSP;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,DCWHKTA|DP;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,desmoplakin|_transcript_variant_2|desmoplakin|_transcript_variant_3|desmoplakin|_transcript_variant_1;transcript_id=,NM_001008844.2|NM_001319034.1|NM_004415.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DSP:NM_001008844:exon15:c.A2091G:p.G697G,DSP:NM_004415:exon15:c.A2091G:p.G697G;cytoBand=6p24.3;genomicSuperDups=.;esp6500siv2_all=0.7859;esp6500siv2_ea=0.7795;esp6500siv2_all=0.7859;esp6500siv2_ea=0.7795;1000g2015aug_all=0.774361;avsnp147=rs2076304;Kaviar_AF=0.750851;Kaviar_AC=116083;Kaviar_AN=154602;ExAC_ALL=0.7614;ExAC_AFR=0.8012;ExAC_AMR=0.7622;ExAC_EAS=0.8130;ExAC_FIN=0.7120;ExAC_NFE=0.7720;ExAC_OTH=0.7577;ExAC_SAS=0.6862;CLNALLELEID=54037;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0209;dpsi_zscore=-0.110;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.7616;gnomAD_exome_AFR=0.8014;gnomAD_exome_AMR=0.7705;gnomAD_exome_ASJ=0.8349;gnomAD_exome_EAS=0.8090;gnomAD_exome_FIN=0.7166;gnomAD_exome_NFE=0.7704;gnomAD_exome_OTH=0.7681;gnomAD_exome_SAS=0.6819;gnomAD_genome_ALL=0.7676;gnomAD_genome_AFR=0.7984;gnomAD_genome_AMR=0.7506;gnomAD_genome_ASJ=0.8543;gnomAD_genome_EAS=0.8169;gnomAD_genome_FIN=0.7120;gnomAD_genome_NFE=0.7585;gnomAD_genome_OTH=0.7357;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:74:0,26 1:60:0,25 1/1:66:0,66 1/1:55:0,55 1/1:43:0,43 1/1:62:0,62 1/1:57:0,57 1/1:55:0,55 1/1:72:0,72 1:62:0,33 1:97:0,50 1:53:0,23 1/1:72:0,72 1/1:84:0,84 1/1:92:0,92 1:87:0,46 1/1:77:0,77 1/1:55:0,55 1:71:0,29 1/1:61:0,61 1:97:0,38 . 1:57:0,23 1/1:76:0,76 1/1:85:0,85 1/1:48:0,48 1:61:0,25 1:90:0,48 1/1:100:0,100 1/1:66:0,66 1/1:70:0,70 1/1:45:0,45 . 1/1:59:0,59 1/1:78:0,78 1:60:0,27 1/1:80:0,80 1/1:72:0,72 1/1:63:0,63 1/1:75:0,75 1/1:73:0,73 1/1:80:0,80 6 7576527 44877;rs1016835 G A 135.65 . #_unique_end_positions=,21;#_unique_start_positions=,18;AC=69;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6082;ALLELEID_clinvar_20171029_hg19=,54044;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7882;AN=69;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.2646|0.7354;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1843292|OMIM:607655|Orphanet:ORPHA293165|MedGen:C1858302|OMIM:604536|Orphanet:ORPHA158668|MedGen:C1864826|OMIM:609638|Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNDN_clinvar_20171029_hg19=,Skin_fragility_woolly_hair_syndrome|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa|_lethal_acantholytic|not_specified|Cardiovascular_phenotype|Cardiomyopathy|_ARVC;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.7576527G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:39147;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001008844.2:c.2631G>A|_NM_001319034.1:c.2631G>A|_NM_004415.3:c.2631G>A;Coding_region_change_in_longest_transcript=,NM_004415.3:c.2631G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.8056;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.8012;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,26;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,DSP:1832;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:1832;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:1832;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:3052;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:3052;Homo_sapiens_refseq_GRCh37.p13_Genes=,DSP;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001008844.2|NM_001319034.1|NM_004415.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene13004;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna18827|rna18826|rna18825;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:125647;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:125647;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene13004;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,7576527;RS_dbsnp_common_v150_hg19_refseq=,1016835;Read_count=,26;Read_coverage=,52;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9985242145508814;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001008844.2|NM_001319034.1|NM_004415.3;Reverse_read_coverage=,26;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7301;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,33,34,35,36,37,38,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.266845|0.733155;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05016800030517053f100100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.673469;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.809735;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.768293;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.845238;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.704545;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.837209;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.848837;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.677778;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.76;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.758741;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.801136;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.526549;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.509;db_xref=,GeneID:1832|HGNC:HGNC:3052|MIM:125647;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001008844.2|Genbank:NM_001319034.1|Genbank:NM_004415.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,desmoplakin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,DSP;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,DSP;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,DCWHKTA|DP;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,desmoplakin|_transcript_variant_2|desmoplakin|_transcript_variant_3|desmoplakin|_transcript_variant_1;transcript_id=,NM_001008844.2|NM_001319034.1|NM_004415.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DSP:NM_001008844:exon19:c.G2631A:p.R877R,DSP:NM_004415:exon19:c.G2631A:p.R877R;cytoBand=6p24.3;genomicSuperDups=.;esp6500siv2_all=0.7481;esp6500siv2_ea=0.8024;esp6500siv2_all=0.7481;esp6500siv2_ea=0.8024;1000g2015aug_all=0.735423;avsnp147=rs1016835;Kaviar_AF=0.76891;Kaviar_AC=118875;Kaviar_AN=154602;ExAC_ALL=0.7718;ExAC_AFR=0.6447;ExAC_AMR=0.7717;ExAC_EAS=0.8046;ExAC_FIN=0.7117;ExAC_NFE=0.7998;ExAC_OTH=0.7594;ExAC_SAS=0.7461;CLNALLELEID=54044;CLNDN=Skin_fragility_woolly_hair_syndrome|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.7710;dpsi_zscore=-1.324;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.7741;gnomAD_exome_AFR=0.6421;gnomAD_exome_AMR=0.7850;gnomAD_exome_ASJ=0.8169;gnomAD_exome_EAS=0.8044;gnomAD_exome_FIN=0.7171;gnomAD_exome_NFE=0.8007;gnomAD_exome_OTH=0.7858;gnomAD_exome_SAS=0.7399;gnomAD_genome_ALL=0.7345;gnomAD_genome_AFR=0.6387;gnomAD_genome_AMR=0.7661;gnomAD_genome_ASJ=0.8444;gnomAD_genome_EAS=0.7970;gnomAD_genome_FIN=0.7140;gnomAD_genome_NFE=0.7824;gnomAD_genome_OTH=0.7628;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:45:0,23 1/1:27:0,27 1/1:28:0,28 1/1:26:0,26 1/1:22:0,22 1/1:17:0,17 1:21:0,9 1/1:37:0,37 1/1:41:0,41 1/1:36:0,36 1/1:55:0,55 1/1:35:0,35 1/1:31:0,31 1:35:0,16 1/1:39:0,39 1:39:0,22 1/1:33:0,33 1/1:41:0,41 1/1:41:0,41 1/1:24:0,24 1/1:80:0,80 1:63:0,24 1:36:0,13 1:41:0,16 1/1:39:0,39 1:37:0,12 1:44:0,24 1:57:0,22 1/1:47:0,47 1/1:43:0,43 1/1:50:0,50 1/1:25:0,25 . 1:48:0,18 1/1:43:0,43 1:36:0,21 1/1:43:0,43 1/1:35:0,35 1:27:0,15 1/1:23:0,23 1/1:47:0,47 1/1:43:0,43 6 7577260 44886;rs2064217 C T 88.48 . #_unique_end_positions=,7;#_unique_start_positions=,5;AC=19;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4039;AF_ESP_clinvar_20171029_hg19=,0.2688;AF_EXAC_clinvar_20171029_hg19=,0.24383;AF_TGP_clinvar_20171029_hg19=,0.2752;ALLELEID_clinvar_20171029_hg19=,54053;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2363;AN=19;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.7248|0.2752;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1843292|OMIM:607655|Orphanet:ORPHA293165|MedGen:C1858302|OMIM:604536|Orphanet:ORPHA158668|MedGen:C1864826|OMIM:609638|Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN239181;CLNDN_clinvar_20171029_hg19=,Skin_fragility_woolly_hair_syndrome|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa|_lethal_acantholytic|not_specified|Cardiomyopathy|_ARVC;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.7577260C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:39151;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001008844.2:c.2862C>T|_NM_001319034.1:c.2862C>T|_NM_004415.3:c.2862C>T;Coding_region_change_in_longest_transcript=,NM_004415.3:c.2862C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1915;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2266;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,8;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,DSP:1832;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:1832;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:1832;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:3052;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:3052;Homo_sapiens_refseq_GRCh37.p13_Genes=,DSP;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001008844.2|NM_001319034.1|NM_004415.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene13004;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna18827|rna18826|rna18825;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:125647;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:125647;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene13004;QUAL=,39.9998429098664;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,7577260;RS_dbsnp_common_v150_hg19_refseq=,2064217;Read_count=,8;Read_coverage=,24;Read_direction_test_probability=,0.47329817896343573;Read_position_test_probability=,0.15425315983568277;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001008844.2|NM_001319034.1|NM_004415.3;Reverse_read_coverage=,16;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2648;SF=5,6,14,15,19,21,23,25,26,32,35,36,37,38,39,40;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.705749|0.294251;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05012800030517053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.225;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.166667;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.155556;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.45;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:1832|HGNC:HGNC:3052|MIM:125647;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001008844.2|Genbank:NM_001319034.1|Genbank:NM_004415.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,desmoplakin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,DSP;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,DSP;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,DCWHKTA|DP;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,desmoplakin|_transcript_variant_2|desmoplakin|_transcript_variant_3|desmoplakin|_transcript_variant_1;transcript_id=,NM_001008844.2|NM_001319034.1|NM_004415.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DSP:NM_001008844:exon20:c.C2862T:p.C954C,DSP:NM_004415:exon20:c.C2862T:p.C954C;cytoBand=6p24.3;genomicSuperDups=.;esp6500siv2_all=0.2688;esp6500siv2_ea=0.2159;esp6500siv2_all=0.2688;esp6500siv2_ea=0.2159;1000g2015aug_all=0.27516;avsnp147=rs2064217;Kaviar_AF=0.238263;Kaviar_AC=36836;Kaviar_AN=154602;ExAC_ALL=0.2438;ExAC_AFR=0.3731;ExAC_AMR=0.2569;ExAC_EAS=0.1953;ExAC_FIN=0.2513;ExAC_NFE=0.2210;ExAC_OTH=0.2744;ExAC_SAS=0.2659;CLNALLELEID=54053;CLNDN=Skin_fragility_woolly_hair_syndrome|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.6228;dpsi_zscore=-1.206;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2394;gnomAD_exome_AFR=0.3721;gnomAD_exome_AMR=0.2390;gnomAD_exome_ASJ=0.2307;gnomAD_exome_EAS=0.1938;gnomAD_exome_FIN=0.2507;gnomAD_exome_NFE=0.2193;gnomAD_exome_OTH=0.2411;gnomAD_exome_SAS=0.2673;gnomAD_genome_ALL=0.2733;gnomAD_genome_AFR=0.3759;gnomAD_genome_AMR=0.2440;gnomAD_genome_ASJ=0.2119;gnomAD_genome_EAS=0.2015;gnomAD_genome_FIN=0.2560;gnomAD_genome_NFE=0.2309;gnomAD_genome_OTH=0.2342;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . 1:22:0,7 1:16:0,7 . . . . . . . 1:30:0,17 1:31:0,20 . . . 1:28:0,12 . 1:39:0,20 . 1/1:32:0,32 . 1:22:0,10 1/1:25:0,25 . . . . . 1:29:0,11 . . 1:29:0,9 1:30:0,12 1:42:0,18 1/1:26:0,26 1:30:0,10 1:33:0,16 . 6 7580386 44897;rs61731476 G A 200.00 . #_unique_end_positions=,54;#_unique_start_positions=,49;AC=4;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0008;AF_ESP_clinvar_20171029_hg19=,0.0114;AF_EXAC_clinvar_20171029_hg19=,0.01385;AF_TGP_clinvar_20171029_hg19=,0.0058;ALLELEID_clinvar_20171029_hg19=,54064;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0115;AN=4;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.11;CAF_dbsnp_common_v150_hg19_refseq=,0.9942|0.005791|.;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1843292|OMIM:607655|Orphanet:ORPHA293165|MedGen:C1843896|OMIM:607450|MedGen:C1854063|OMIM:605676|Orphanet:ORPHA65282|MedGen:C1858302|OMIM:604536|Orphanet:ORPHA158668|MedGen:C1864826|OMIM:609638|Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNDN_clinvar_20171029_hg19=,Skin_fragility_woolly_hair_syndrome|Arrhythmogenic_right_ventricular_cardiomyopathy|_type_8|Cardiomyopathy_dilated_with_woolly_hair_and_keratoderma|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa|_lethal_acantholytic|not_specified|Cardiovascular_phenotype|Cardiomyopathy|_ARVC;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.7580386G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_conflicting_interpretations;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Genetics_Diagnostic_Laboratory|Children's_Hospital_of_Eastern_Ontario_(CHEO):319294|Illumina_Clinical_Services_Laboratory|Illumina:88965;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001008844.2:c.3582+381G>A|_NM_001319034.1:c.3963G>A|_NM_004415.3:c.3963G>A;Coding_region_change_in_longest_transcript=,NM_004415.3:c.3963G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0169;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,112;GENEINFO_dbsnp_common_v150_hg19_refseq=,DSP:1832;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:1832;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:1832;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:3052;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:3052;Homo_sapiens_refseq_GRCh37.p13_Genes=,DSP;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001319034.1|NM_004415.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene13004;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna18826|rna18825;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001627|intron_variant|SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:125647;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:125647;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene13004;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,7580386;RS_dbsnp_common_v150_hg19_refseq=,61731476;Read_count=,104;Read_coverage=,229;Read_direction_test_probability=,0.9996924792036294;Read_position_test_probability=,0.13883119004558075;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001319034.1|NM_004415.3;Reverse_read_coverage=,117;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0031;SF=10,13,20,21;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.990418|0.0095817|.;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128080b05040536000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:1832|HGNC:HGNC:3052|MIM:125647;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001319034.1|Genbank:NM_004415.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,desmoplakin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,DSP;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,DSP;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,DCWHKTA|DP;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,desmoplakin|_transcript_variant_3|desmoplakin|_transcript_variant_1;transcript_id=,NM_001319034.1|NM_004415.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DSP:NM_004415:exon23:c.G3963A:p.Q1321Q;cytoBand=6p24.3;genomicSuperDups=.;esp6500siv2_all=0.0114;esp6500siv2_ea=0.0149;esp6500siv2_all=0.0114;esp6500siv2_ea=0.0149;1000g2015aug_all=0.00579073;avsnp147=rs61731476;Kaviar_AF=0.0135186;Kaviar_AC=2090;Kaviar_AN=154602;ExAC_ALL=0.0139;ExAC_AFR=0.0031;ExAC_AMR=0.0095;ExAC_EAS=0;ExAC_FIN=0.0165;ExAC_NFE=0.0192;ExAC_OTH=0.0078;ExAC_SAS=0.0084;CLNALLELEID=54064;CLNDN=Skin_fragility_woolly_hair_syndrome|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_8|Dilated_cardiomyopathy_with_woolly_hair_and_keratoderma|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1843896,OMIM:607450|MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.3623;dpsi_zscore=-0.938;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0129;gnomAD_exome_AFR=0.0025;gnomAD_exome_AMR=0.0108;gnomAD_exome_ASJ=0.0097;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0154;gnomAD_exome_NFE=0.0178;gnomAD_exome_OTH=0.0183;gnomAD_exome_SAS=0.0084;gnomAD_genome_ALL=0.0121;gnomAD_genome_AFR=0.0030;gnomAD_genome_AMR=0.0095;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0183;gnomAD_genome_NFE=0.0175;gnomAD_genome_OTH=0.0102;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:DP:CLCAD2 . . . . . . . . . . 1:216:0,99 . . 1:183:0,92 . . . . . . 1:160:0,74 1:212:0,101 . . . . . . . . . . . . . . . . . . . . 6 7580958 44915;rs2076299 A G 200.00 . #_unique_end_positions=,78;#_unique_start_positions=,68;AC=2;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3139;AF_ESP_clinvar_20171029_hg19=,0.1209;AF_EXAC_clinvar_20171029_hg19=,0.11560;AF_TGP_clinvar_20171029_hg19=,0.2033;ALLELEID_clinvar_20171029_hg19=,54082;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1772;AN=2;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_004406.2:p.Tyr1512Cys;Amino_acid_change_in_longest_transcript=,NP_004406.2:p.Tyr1512Cys;BaseQRankSum=,-0.16;CAF_dbsnp_common_v150_hg19_refseq=,0.7967|0.2033;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1843292|OMIM:607655|Orphanet:ORPHA293165|MedGen:C1858302|OMIM:604536|Orphanet:ORPHA158668|MedGen:C1864826|OMIM:609638|Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNDN_clinvar_20171029_hg19=,Skin_fragility_woolly_hair_syndrome|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa|_lethal_acantholytic|not_specified|Cardiovascular_phenotype|Cardiomyopathy|_ARVC;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.7580958A>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:64817|UniProtKB_(protein):P15924#VAR_020468;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001008844.2:c.3582+953A>G|_NM_001319034.1:c.4050+485A>G|_NM_004415.3:c.4535A>G;Coding_region_change_in_longest_transcript=,NM_004415.3:c.4535A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2867;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0358;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,101;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,DSP:1832;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:1832;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:1832;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:3052;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:3052;Homo_sapiens_refseq_GRCh37.p13_Genes=,DSP;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_004415.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene13004;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna18825;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant|SO:0001627|intron_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:125647;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:125647;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene13004;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,7580958;RS_dbsnp_common_v150_hg19_refseq=,2076299;Read_count=,111;Read_coverage=,237;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9034586235500941;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_004415.3;Reverse_read_coverage=,136;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1585;SF=29,39;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.837283|0.162717;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128080a0515053f000101;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.27551;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0353982;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.402439;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.352941;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.113636;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.197674;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.30814;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.275281;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.12;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.232394;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.0340909;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.292035;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.38;db_xref=,GeneID:1832|HGNC:HGNC:3052|MIM:125647;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_004415.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,desmoplakin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,DSP;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,DSP;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,DCWHKTA|DP;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,desmoplakin|_transcript_variant_1;transcript_id=,NM_004415.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DSP:NM_004415:exon23:c.A4535G:p.Y1512C;cytoBand=6p24.3;genomicSuperDups=.;esp6500siv2_all=0.1209;esp6500siv2_ea=0.0442;esp6500siv2_all=0.1209;esp6500siv2_ea=0.0442;1000g2015aug_all=0.203275;avsnp147=rs2076299;Kaviar_AF=0.109785;Kaviar_AC=16973;Kaviar_AN=154602;ExAC_ALL=0.1156;ExAC_AFR=0.2938;ExAC_AMR=0.2244;ExAC_EAS=0.2954;ExAC_FIN=0.0625;ExAC_NFE=0.0455;ExAC_OTH=0.0886;ExAC_SAS=0.1400;CLNALLELEID=54082;CLNDN=Skin_fragility_woolly_hair_syndrome|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.179;SIFT_pred=T;Polyphen2_HDIV_score=0.454;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.237;Polyphen2_HVAR_pred=B;LRT_score=0.132;LRT_pred=N;MutationTaster_score=0.825;MutationTaster_pred=P;MutationAssessor_score=0.345;MutationAssessor_pred=N;FATHMM_score=-0.46;FATHMM_pred=T;PROVEAN_score=-0.65;PROVEAN_pred=N;VEST3_score=0.157;CADD_raw=0.670;CADD_phred=8.631;DANN_score=0.921;fathmm-MKL_coding_score=0.582;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.089;MetaSVM_pred=T;MetaLR_score=0.069;MetaLR_pred=T;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=1.8;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.199;phastCons7way_vertebrate=0.986;phastCons20way_mammalian=0.889;SiPhy_29way_logOdds=5.571;GDI_full_10282015=.;dpsi_max_tissue=-0.0353;dpsi_zscore=-0.194;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM150220#"Arrhythmogenic_right_ventricular_cardiomyopathy";gnomAD_exome_ALL=0.1174;gnomAD_exome_AFR=0.2971;gnomAD_exome_AMR=0.2273;gnomAD_exome_ASJ=0.0840;gnomAD_exome_EAS=0.2932;gnomAD_exome_FIN=0.0633;gnomAD_exome_NFE=0.0418;gnomAD_exome_OTH=0.0859;gnomAD_exome_SAS=0.1384;gnomAD_genome_ALL=0.1301;gnomAD_genome_AFR=0.2851;gnomAD_genome_AMR=0.2005;gnomAD_genome_ASJ=0.0728;gnomAD_genome_EAS=0.2909;gnomAD_genome_FIN=0.0641;gnomAD_genome_NFE=0.0382;gnomAD_genome_OTH=0.0866;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:225:0,106 . . . . . . . . . 1:217:0,87 . . 6 7581636 44925;rs6929069 G A 200.00 . #_unique_end_positions=,42;#_unique_start_positions=,35;AC=10;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3790;AF_ESP_clinvar_20171029_hg19=,0.1941;AF_EXAC_clinvar_20171029_hg19=,0.17241;AF_TGP_clinvar_20171029_hg19=,0.2404;ALLELEID_clinvar_20171029_hg19=,54092;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1859;AN=10;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_004406.2:p.Arg1738Gln;Amino_acid_change_in_longest_transcript=,NP_004406.2:p.Arg1738Gln;BaseQRankSum=,-0.05;CAF_dbsnp_common_v150_hg19_refseq=,0.7596|0.2404;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1843292|OMIM:607655|Orphanet:ORPHA293165|MedGen:C1858302|OMIM:604536|Orphanet:ORPHA158668|MedGen:C1864826|OMIM:609638|Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN239181|MedGen:CN517202;CLNDN_clinvar_20171029_hg19=,Skin_fragility_woolly_hair_syndrome|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa|_lethal_acantholytic|not_specified|Cardiomyopathy|_ARVC|not_provided;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.7581636G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:77657|UniProtKB_(protein):P15924#VAR_023815;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001008844.2:c.3583-1239G>A|_NM_001319034.1:c.4050+1163G>A|_NM_004415.3:c.5213G>A;Coding_region_change_in_longest_transcript=,NM_004415.3:c.5213G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1944;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1352;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,63;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,DSP:1832;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:1832;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:1832;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:3052;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:3052;Homo_sapiens_refseq_GRCh37.p13_Genes=,DSP;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_004415.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene13004;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna18825;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant|SO:0001627|intron_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:125647;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:125647;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene13004;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,7581636;RS_dbsnp_common_v150_hg19_refseq=,6929069;Read_count=,54;Read_coverage=,129;Read_direction_test_probability=,0.9609560072673654;Read_position_test_probability=,0.46840681574895804;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_004415.3;Reverse_read_coverage=,66;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2474;SF=0,6,15,21,23,25,26,32,35,38;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.778144|0.221856;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128080a0515053f000101;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.316327;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.116071;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.231707;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.160714;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.255682;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.162791;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.151163;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.322222;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.23;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.232143;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.136364;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.469027;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.054;db_xref=,GeneID:1832|HGNC:HGNC:3052|MIM:125647;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_004415.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,desmoplakin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,DSP;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,DSP;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,DCWHKTA|DP;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,desmoplakin|_transcript_variant_1;transcript_id=,NM_004415.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DSP:NM_004415:exon23:c.G5213A:p.R1738Q;cytoBand=6p24.3;genomicSuperDups=.;esp6500siv2_all=0.1941;esp6500siv2_ea=0.1257;esp6500siv2_all=0.1941;esp6500siv2_ea=0.1257;1000g2015aug_all=0.240415;avsnp147=rs6929069;Kaviar_AF=0.167656;Kaviar_AC=25920;Kaviar_AN=154602;ExAC_ALL=0.1724;ExAC_AFR=0.3274;ExAC_AMR=0.2139;ExAC_EAS=0.1935;ExAC_FIN=0.1763;ExAC_NFE=0.1230;ExAC_OTH=0.1898;ExAC_SAS=0.2319;CLNALLELEID=54092;CLNDN=Skin_fragility_woolly_hair_syndrome|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC|not_provided;CLNDISDB=MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.076;SIFT_pred=T;Polyphen2_HDIV_score=0.003;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.003;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.345;MutationAssessor_pred=N;FATHMM_score=-0.62;FATHMM_pred=T;PROVEAN_score=-1.2;PROVEAN_pred=N;VEST3_score=0.054;CADD_raw=0.509;CADD_phred=7.501;DANN_score=0.985;fathmm-MKL_coding_score=0.238;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.093;MetaSVM_pred=T;MetaLR_score=0.076;MetaLR_pred=T;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=3.24;phyloP7way_vertebrate=0.069;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.026;phastCons20way_mammalian=0.272;SiPhy_29way_logOdds=9.217;GDI_full_10282015=.;dpsi_max_tissue=-0.0247;dpsi_zscore=-0.134;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM150224#"Arrhythmogenic_right_ventricular_cardiomyopathy";gnomAD_exome_ALL=0.1722;gnomAD_exome_AFR=0.3295;gnomAD_exome_AMR=0.1988;gnomAD_exome_ASJ=0.1579;gnomAD_exome_EAS=0.1934;gnomAD_exome_FIN=0.1776;gnomAD_exome_NFE=0.1218;gnomAD_exome_OTH=0.1634;gnomAD_exome_SAS=0.2383;gnomAD_genome_ALL=0.1975;gnomAD_genome_AFR=0.3352;gnomAD_genome_AMR=0.2053;gnomAD_genome_ASJ=0.1391;gnomAD_genome_EAS=0.2005;gnomAD_genome_FIN=0.1804;gnomAD_genome_NFE=0.1245;gnomAD_genome_OTH=0.1602;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:122:0,51 . . . . . 1:115:0,60 . . . . . . . . 1:133:0,58 . . . . . 1:133:0,64 . 1:153:0,72 . 1:116:0,55 1:149:0,77 . . . . . 1:119:0,69 . . 1:125:0,68 . . 1:106:0,61 . . . 6 7584617 44947;rs2076300 C T 196.48 . #_unique_end_positions=,55;#_unique_start_positions=,40;AC=28;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1369;AF_ESP_clinvar_20171029_hg19=,0.3023;AF_EXAC_clinvar_20171029_hg19=,0.28806;AF_TGP_clinvar_20171029_hg19=,0.2117;ALLELEID_clinvar_20171029_hg19=,54114;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2421;AN=28;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.16;CAF_dbsnp_common_v150_hg19_refseq=,0.7883|0.2117;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1843292|OMIM:607655|Orphanet:ORPHA293165|MedGen:C1858302|OMIM:604536|Orphanet:ORPHA158668|MedGen:C1864826|OMIM:609638|Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN239181;CLNDN_clinvar_20171029_hg19=,Skin_fragility_woolly_hair_syndrome|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa|_lethal_acantholytic|not_specified|Cardiomyopathy|_ARVC;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.7584617C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:250825;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001008844.2:c.5325C>T|_NM_001319034.1:c.5793C>T|_NM_004415.3:c.7122C>T;Coding_region_change_in_longest_transcript=,NM_004415.3:c.7122C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0744;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3797;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,79;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,DSP:1832;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:1832;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:1832;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:3052;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:3052;Homo_sapiens_refseq_GRCh37.p13_Genes=,DSP;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001008844.2|NM_001319034.1|NM_004415.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene13004;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna18827|rna18826|rna18825;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:125647;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:125647;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene13004;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,7584617;RS_dbsnp_common_v150_hg19_refseq=,2076300;Read_count=,85;Read_coverage=,177;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.877232188354604;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001008844.2|NM_001319034.1|NM_004415.3;Reverse_read_coverage=,98;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2597;SF=1,2,4,5,6,7,8,10,17,18,19,20,24,25,27,28,30,33,34,35,36,37,40;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05012800030515053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.163265;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.380531;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.0365854;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.105882;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.227273;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0465116;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.104651;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.172222;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.21;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.276224;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.397727;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.110619;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.071;db_xref=,GeneID:1832|HGNC:HGNC:3052|MIM:125647;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001008844.2|Genbank:NM_001319034.1|Genbank:NM_004415.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,desmoplakin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,DSP;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,DSP;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,DCWHKTA|DP;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,desmoplakin|_transcript_variant_2|desmoplakin|_transcript_variant_3|desmoplakin|_transcript_variant_1;transcript_id=,NM_001008844.2|NM_001319034.1|NM_004415.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DSP:NM_001008844:exon24:c.C5325T:p.T1775T,DSP:NM_004415:exon24:c.C7122T:p.T2374T;cytoBand=6p24.3;genomicSuperDups=.;esp6500siv2_all=0.3022;esp6500siv2_ea=0.3690;esp6500siv2_all=0.3022;esp6500siv2_ea=0.3690;1000g2015aug_all=0.211661;avsnp147=rs2076300;Kaviar_AF=0.289957;Kaviar_AC=44828;Kaviar_AN=154602;ExAC_ALL=0.2881;ExAC_AFR=0.1681;ExAC_AMR=0.1799;ExAC_EAS=0.0682;ExAC_FIN=0.3304;ExAC_NFE=0.3568;ExAC_OTH=0.3007;ExAC_SAS=0.2592;CLNALLELEID=54114;CLNDN=Skin_fragility_woolly_hair_syndrome|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2894;gnomAD_exome_AFR=0.1670;gnomAD_exome_AMR=0.1952;gnomAD_exome_ASJ=0.4315;gnomAD_exome_EAS=0.0662;gnomAD_exome_FIN=0.3296;gnomAD_exome_NFE=0.3556;gnomAD_exome_OTH=0.3244;gnomAD_exome_SAS=0.2568;gnomAD_genome_ALL=0.2675;gnomAD_genome_AFR=0.1651;gnomAD_genome_AMR=0.2160;gnomAD_genome_ASJ=0.4371;gnomAD_genome_EAS=0.0651;gnomAD_genome_FIN=0.3282;gnomAD_genome_NFE=0.3318;gnomAD_genome_OTH=0.3006;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . 1:160:0,76 1/1:125:0,125 . 1/1:102:0,102 1:95:0,45 1:118:0,61 1/1:137:0,137 1:173:0,87 . 1:172:0,84 . . . . . . 1:167:0,72 1:121:0,57 1:141:0,58 1:135:0,66 . . . 1:166:0,78 1:128:0,62 . 1:193:0,88 1:190:0,112 . 1/1:182:0,182 . . 1:122:0,63 1/1:159:0,159 1:173:0,86 1:164:0,86 1:104:0,57 . . 1:170:0,84 . 6 7585670 44961;rs11558731 C A 200.00 . #_unique_end_positions=,68;#_unique_start_positions=,59;AC=7;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0023;AF_ESP_clinvar_20171029_hg19=,0.0461;AF_EXAC_clinvar_20171029_hg19=,0.04600;AF_TGP_clinvar_20171029_hg19=,0.0240;ALLELEID_clinvar_20171029_hg19=,54128;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0447;AN=7;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.4;CAF_dbsnp_common_v150_hg19_refseq=,0.976|0.02396|.;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1843292|OMIM:607655|Orphanet:ORPHA293165|MedGen:C1843896|OMIM:607450|MedGen:C1854063|OMIM:605676|Orphanet:ORPHA65282|MedGen:C1858302|OMIM:604536|Orphanet:ORPHA158668|MedGen:C1864826|OMIM:609638|Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNDN_clinvar_20171029_hg19=,Skin_fragility_woolly_hair_syndrome|Arrhythmogenic_right_ventricular_cardiomyopathy|_type_8|Cardiomyopathy_dilated_with_woolly_hair_and_keratoderma|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa|_lethal_acantholytic|not_specified|Cardiovascular_phenotype|Cardiomyopathy|_ARVC;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.7585670C>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:39153;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001008844.2:c.6378C>A|_NM_001319034.1:c.6846C>A|_NM_004415.3:c.8175C>A|_NM_152551.3:c.-4821C>A;Coding_region_change_in_longest_transcript=,NM_004415.3:c.8175C>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0706;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,112;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,DSP:1832;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:1832;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:1832;Genotype=,A/C;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:3052;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:3052;Homo_sapiens_refseq_GRCh37.p13_Genes=,DSP;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001008844.2|NM_001319034.1|NM_004415.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene13004;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna18827|rna18826|rna18825;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:125647;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:125647;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene13004;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,7585670;RS_dbsnp_common_v150_hg19_refseq=,11558731;Read_count=,125;Read_coverage=,267;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9274145988835056;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001008844.2|NM_001319034.1|NM_004415.3;Reverse_read_coverage=,155;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0153;SF=9,12,16,24,28,29;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.963047|0.0369531|.;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128000305150536000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:1832|HGNC:HGNC:3052|MIM:125647;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001008844.2|Genbank:NM_001319034.1|Genbank:NM_004415.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,desmoplakin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,DSP;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,DSP;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,DCWHKTA|DP;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,desmoplakin|_transcript_variant_2|desmoplakin|_transcript_variant_3|desmoplakin|_transcript_variant_1;transcript_id=,NM_001008844.2|NM_001319034.1|NM_004415.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DSP:NM_001008844:exon24:c.C6378A:p.R2126R,DSP:NM_004415:exon24:c.C8175A:p.R2725R;cytoBand=6p24.3;genomicSuperDups=.;esp6500siv2_all=0.0461;esp6500siv2_ea=0.0633;esp6500siv2_all=0.0461;esp6500siv2_ea=0.0633;1000g2015aug_all=0.0239617;avsnp147=rs11558731;Kaviar_AF=0.0466618;Kaviar_AC=7214;Kaviar_AN=154602;ExAC_ALL=0.0460;ExAC_AFR=0.0101;ExAC_AMR=0.0284;ExAC_EAS=0.0002;ExAC_FIN=0.0438;ExAC_NFE=0.0674;ExAC_OTH=0.0562;ExAC_SAS=0.0188;CLNALLELEID=54128;CLNDN=Skin_fragility_woolly_hair_syndrome|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_8|Dilated_cardiomyopathy_with_woolly_hair_and_keratoderma|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1843896,OMIM:607450|MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0462;gnomAD_exome_AFR=0.0104;gnomAD_exome_AMR=0.0340;gnomAD_exome_ASJ=0.0665;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0.0463;gnomAD_exome_NFE=0.0675;gnomAD_exome_OTH=0.0545;gnomAD_exome_SAS=0.0180;gnomAD_genome_ALL=0.0409;gnomAD_genome_AFR=0.0112;gnomAD_genome_AMR=0.0346;gnomAD_genome_ASJ=0.0933;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0447;gnomAD_genome_NFE=0.0605;gnomAD_genome_OTH=0.0489;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 . . . . . . . . . 1:248:0,118 . . 1/1:230:0,230 . . . 1:226:0,99 . . . . . . . 1:312:0,144 . . . 1:303:0,138 1:277:0,137 . . . . . . . . . . . . 6 7585842 . A C 200.00 . #_unique_end_positions=,67;#_unique_start_positions=,58;AC=1;AN=1;Amino_acid_change=,NP_004406.2:p.Ile2783Leu|_NP_001305963.1:p.Ile2340Leu|_NP_001008844.1:p.Ile2184Leu;Amino_acid_change_in_longest_transcript=,NP_004406.2:p.Ile2783Leu;BaseQRankSum=,-0.26;Coding_region_change=,NM_001008844.2:c.6550A>C|_NM_001319034.1:c.7018A>C|_NM_004415.3:c.8347A>C|_NM_152551.3:c.-4649A>C;Coding_region_change_in_longest_transcript=,NM_004415.3:c.8347A>C;Forward_read_coverage=,74;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:1832;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:1832;Genotype=,A/C;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:3052;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:3052;Homo_sapiens_refseq_GRCh37.p13_Genes=,DSP;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001008844.2|NM_001319034.1|NM_004415.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene13004;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna18827|rna18826|rna18825;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:125647;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:125647;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene13004;QUAL=,200.0;Read_count=,90;Read_coverage=,183;Read_direction_test_probability=,0.943844577955008;Read_position_test_probability=,0.9111663693639853;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001008844.2|NM_001319034.1|NM_004415.3;Reverse_read_coverage=,109;SF=30;conservation_score=,0.993;db_xref=,GeneID:1832|HGNC:HGNC:3052|MIM:125647;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001008844.2|Genbank:NM_001319034.1|Genbank:NM_004415.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,desmoplakin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,DSP;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,DSP;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,DCWHKTA|DP;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,desmoplakin|_transcript_variant_2|desmoplakin|_transcript_variant_3|desmoplakin|_transcript_variant_1;transcript_id=,NM_001008844.2|NM_001319034.1|NM_004415.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DSP:NM_001008844:exon24:c.A6550C:p.I2184L,DSP:NM_004415:exon24:c.A8347C:p.I2783L;cytoBand=6p24.3;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.194;SIFT_pred=T;Polyphen2_HDIV_score=0.977;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.989;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=1.905;MutationAssessor_pred=M;FATHMM_score=-0.13;FATHMM_pred=T;PROVEAN_score=-1.45;PROVEAN_pred=N;VEST3_score=0.675;CADD_raw=5.198;CADD_phred=25.5;DANN_score=0.993;fathmm-MKL_coding_score=0.978;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.633;MetaSVM_pred=T;MetaLR_score=0.237;MetaLR_pred=T;integrated_fitCons_score=0.732;integrated_confidence_value=0;GERP++_RS=5.25;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.199;phastCons7way_vertebrate=0.999;phastCons20way_mammalian=0.998;SiPhy_29way_logOdds=15.444;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=7 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:178:0,89 . . . . . . . . . . . 6 7585967 44967;rs2744380 G C 193.49 . #_unique_end_positions=,56;#_unique_start_positions=,49;AC=59;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6051;ALLELEID_clinvar_20171029_hg19=,54134;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7478;AN=59;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.26;CAF_dbsnp_common_v150_hg19_refseq=,0.2905|0.7095;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1843292|OMIM:607655|Orphanet:ORPHA293165|MedGen:C1858302|OMIM:604536|Orphanet:ORPHA158668|MedGen:C1864826|OMIM:609638|Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNDN_clinvar_20171029_hg19=,Skin_fragility_woolly_hair_syndrome|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa|_lethal_acantholytic|not_specified|Cardiovascular_phenotype|Cardiomyopathy|_ARVC;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.7585967G>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:39156;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001008844.2:c.6675G>C|_NM_001319034.1:c.7143G>C|_NM_004415.3:c.8472G>C|_NM_152551.3:c.-4524G>C;Coding_region_change_in_longest_transcript=,NM_004415.3:c.8472G>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.8046;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7127;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,98;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,DSP:1832;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:1832;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:1832;Genotype=,C/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:3052;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:3052;Homo_sapiens_refseq_GRCh37.p13_Genes=,DSP;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001008844.2|NM_001319034.1|NM_004415.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene13004;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna18827|rna18826|rna18825;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:125647;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:125647;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene13004;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,7585967;RS_dbsnp_common_v150_hg19_refseq=,2744380;Read_count=,122;Read_coverage=,233;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.8391298903030432;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001008844.2|NM_001319034.1|NM_004415.3;Reverse_read_coverage=,135;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7219;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,24,25,27,28,29,30,31,33,34,35,36,37,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.319275|0.680725;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05016800030517053e100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.984;db_xref=,GeneID:1832|HGNC:HGNC:3052|MIM:125647;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001008844.2|Genbank:NM_001319034.1|Genbank:NM_004415.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,desmoplakin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,DSP;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,DSP;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,DCWHKTA|DP;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,desmoplakin|_transcript_variant_2|desmoplakin|_transcript_variant_3|desmoplakin|_transcript_variant_1;transcript_id=,NM_001008844.2|NM_001319034.1|NM_004415.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DSP:NM_001008844:exon24:c.G6675C:p.G2225G,DSP:NM_004415:exon24:c.G8472C:p.G2824G;cytoBand=6p24.3;genomicSuperDups=.;esp6500siv2_all=0.6881;esp6500siv2_ea=0.7173;esp6500siv2_all=0.6881;esp6500siv2_ea=0.7173;1000g2015aug_all=0.709465;avsnp147=rs2744380;Kaviar_AF=0.139468;Kaviar_AC=21562;Kaviar_AN=154602;ExAC_ALL=0.7117;ExAC_AFR=0.6397;ExAC_AMR=0.7338;ExAC_EAS=0.8066;ExAC_FIN=0.6397;ExAC_NFE=0.7101;ExAC_OTH=0.6850;ExAC_SAS=0.7272;CLNALLELEID=54134;CLNDN=Skin_fragility_woolly_hair_syndrome|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_8|Dilated_cardiomyopathy_with_woolly_hair_and_keratoderma|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|Cardiomyopathy,_dilated,_with_woolly_hair,_keratoderma,_and_tooth_agenesis|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1843896,OMIM:607450|MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:C4014393,OMIM:615821|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.7137;gnomAD_exome_AFR=0.6367;gnomAD_exome_AMR=0.7507;gnomAD_exome_ASJ=0.7447;gnomAD_exome_EAS=0.8051;gnomAD_exome_FIN=0.6456;gnomAD_exome_NFE=0.7084;gnomAD_exome_OTH=0.7150;gnomAD_exome_SAS=0.7193;gnomAD_genome_ALL=0.6718;gnomAD_genome_AFR=0.6315;gnomAD_genome_AMR=0.7398;gnomAD_genome_ASJ=0.7781;gnomAD_genome_EAS=0.7978;gnomAD_genome_FIN=0.6403;gnomAD_genome_NFE=0.6820;gnomAD_genome_OTH=0.6875;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-10 GT:DP:CLCAD2 1:196:0,104 1/1:211:0,210 1/1:174:0,174 1/1:227:0,227 1/1:171:0,171 1:162:0,85 1:156:0,74 1/1:146:0,146 1/1:206:0,206 1/1:185:0,184 1/1:233:0,233 1/1:200:0,200 1/1:213:0,213 1:227:0,106 1:280:0,145 1:221:0,108 1/1:207:0,207 1/1:203:0,203 1/1:182:0,182 1:179:0,75 1/1:185:0,185 1:191:0,89 1:174:0,83 . 1/1:237:0,237 1:164:0,73 . 1:257:0,124 1/1:264:0,264 1/1:229:0,229 1/1:235:0,235 1/1:154:0,154 . 1:139:0,64 1/1:218:0,218 1:218:0,102 1:183:0,71 1:171:0,77 . 1:209:0,85 1:208:0,110 1/1:154:0,154 6 26091179 10;rs1799945 C G 200.00 . #_unique_end_positions=,34;#_unique_start_positions=,35;AC=15;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0113;AF_ESP_clinvar_20171029_hg19=,0.1107;AF_EXAC_clinvar_20171029_hg19=,0.10660;AF_TGP_clinvar_20171029_hg19=,0.0731;ALLELEID_clinvar_20171029_hg19=,15049;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1153;AN=15;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_620575.1:p.His63Asp|_NP_000401.1:p.His63Asp|_NP_620572.1:p.His63Asp|_NP_620578.1:p.His40Asp|_NP_620573.1:p.His63Asp|_NP_001287678.1:p.His63Asp;Amino_acid_change_in_longest_transcript=,NP_000401.1:p.His63Asp;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.9269|0.07308;CLNDISDB_clinvar_20171029_hg19=,MedGen:C0392514|SNOMED_CT:35400008|MedGen:C2673520|OMIM:612635|MedGen:C3469186|OMIM:235200|MedGen:CN169374|MedGen:CN517202;CLNDN_clinvar_20171029_hg19=,Hereditary_hemochromatosis|Microvascular_complications_of_diabetes_7|Hemochromatosis_type_1|not_specified|not_provided;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.26091179C>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_conflicting_interpretations;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:39285|OMIM_Allelic_Variant:613609.0002|UniProtKB_(protein):Q30201#VAR_004396;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000410.3:c.187C>G|_NM_001300749.1:c.187C>G|_NM_139003.2:c.187C>G|_NM_139004.2:c.187C>G|_NM_139006.2:c.187C>G|_NM_139007.2:c.77-363C>G|_NM_139008.2:c.77-363C>G|_NM_139009.2:c.118C>G|_NM_139010.2:c.77-1734C>G|_NM_139011.2:c.77-2168C>G;Coding_region_change_in_longest_transcript=,NM_000410.3:c.187C>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0288;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1720;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,82;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,HFE:3077;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:108783645|GeneID:3077;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:108783645|GeneID:3077;Genotype=,C/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:4886;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:4886;Homo_sapiens_refseq_GRCh37.p13_Genes=,LOC108783645|HFE;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NR_144383.1|NM_139004.2|NM_139003.2|NM_000410.3|NM_001300749.1|NM_139006.2|NM_139009.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene13203|gene13204;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna19067|rna19071|rna19072|rna19068|rna19069|rna19070|rna19073;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant|SO:0001627|intron_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:613609;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:613609;MTP_dbsnp_common_v150_hg19_refseq=,MTP;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;OM_dbsnp_common_v150_hg19_refseq=,OM;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene13203|gene13204;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,26091179;RS_dbsnp_common_v150_hg19_refseq=,1799945;Read_count=,58;Read_coverage=,122;Read_direction_test_probability=,0.9739432078183788;Read_position_test_probability=,0.7745627136196485;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NR_144383.1|NM_139004.2|NM_139003.2|NM_000410.3|NM_001300749.1|NM_139006.2|NM_139009.2;Reverse_read_coverage=,40;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0706;SF=0,5,11,12,14,17,18,21,23,27,32,35,38,40;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.91428|0.0857202;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050368080a0515053f130100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.178571;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.125;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0416667;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.002;db_xref=,GeneID:108783645|GeneID:3077|HGNC:HGNC:4886|MIM:613609;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NR_144383.1|Genbank:NM_139004.2|Genbank:NM_139003.2|Genbank:NM_000410.3|Genbank:NM_001300749.1|Genbank:NM_139006.2|Genbank:NM_139009.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HFE_antisense_RNA|hemochromatosis;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,ncRNA|mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LOC108783645|HFE;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,LOC108783645|HFE;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,antisense_RNA|protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HFE1|HH|HLA-H|MVCD7|TFQTL2;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HFE_antisense_RNA|hemochromatosis|_transcript_variant_4|hemochromatosis|_transcript_variant_3|hemochromatosis|_transcript_variant_1|hemochromatosis|_transcript_variant_12|hemochromatosis|_transcript_variant_6|hemochromatosis|_transcript_variant_9;transcript_id=,NR_144383.1|NM_139004.2|NM_139003.2|NM_000410.3|NM_001300749.1|NM_139006.2|NM_139009.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,antisense_RNA|mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=HFE;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=HFE:NM_000410:exon2:c.C187G:p.H63D,HFE:NM_001300749:exon2:c.C187G:p.H63D,HFE:NM_139003:exon2:c.C187G:p.H63D,HFE:NM_139004:exon2:c.C187G:p.H63D,HFE:NM_139006:exon2:c.C187G:p.H63D,HFE:NM_139009:exon2:c.C118G:p.H40D;cytoBand=6p22.2;genomicSuperDups=.;esp6500siv2_all=0.1107;esp6500siv2_ea=0.1513;esp6500siv2_all=0.1107;esp6500siv2_ea=0.1513;1000g2015aug_all=0.0730831;avsnp147=rs1799945;Kaviar_AF=0.109171;Kaviar_AC=16878;Kaviar_AN=154602;ExAC_ALL=0.1066;ExAC_AFR=0.0290;ExAC_AMR=0.0959;ExAC_EAS=0.0365;ExAC_FIN=0.1031;ExAC_NFE=0.1368;ExAC_OTH=0.1300;ExAC_SAS=0.0779;CLNALLELEID=15049;CLNDN=Hereditary_hemochromatosis|Microvascular_complications_of_diabetes_7|Hemochromatosis_type_1|not_provided;CLNDISDB=MedGen:C0392514,SNOMED_CT:35400008|MedGen:C2673520,OMIM:612635|MedGen:C3469186,OMIM:235200|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Pathogenic,_other,_risk_factor;SIFT_score=0.378;SIFT_pred=T;Polyphen2_HDIV_score=0.991;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.883;Polyphen2_HVAR_pred=P;LRT_score=0.347;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=1.89;MutationAssessor_pred=L;FATHMM_score=5.87;FATHMM_pred=T;PROVEAN_score=-1.23;PROVEAN_pred=N;VEST3_score=0.62;CADD_raw=4.570;CADD_phred=24.4;DANN_score=0.985;fathmm-MKL_coding_score=0.079;fathmm-MKL_coding_pred=N;MetaSVM_score=0.103;MetaSVM_pred=D;MetaLR_score=0.631;MetaLR_pred=D;integrated_fitCons_score=0.624;integrated_confidence_value=0;GERP++_RS=3.51;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.692;phastCons20way_mammalian=0.981;SiPhy_29way_logOdds=6.685;GDI_full_10282015=.;dpsi_max_tissue=0.1664;dpsi_zscore=0.654;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM960827#"Haemochromatosis_association_with";gnomAD_exome_ALL=0.1095;gnomAD_exome_AFR=0.0260;gnomAD_exome_AMR=0.1010;gnomAD_exome_ASJ=0.1095;gnomAD_exome_EAS=0.0353;gnomAD_exome_FIN=0.1036;gnomAD_exome_NFE=0.1441;gnomAD_exome_OTH=0.1174;gnomAD_exome_SAS=0.0796;gnomAD_genome_ALL=0.0985;gnomAD_genome_AFR=0.0281;gnomAD_genome_AMR=0.0959;gnomAD_genome_ASJ=0.1093;gnomAD_genome_EAS=0.0272;gnomAD_genome_FIN=0.1060;gnomAD_genome_NFE=0.1440;gnomAD_genome_OTH=0.1199;Whole_Blood=Whole_Blood::0.135501::0.417212;Liver=.;ALLELE_END;COSO_score=1 GT:DP:CLCAD2 1:106:0,49 . . . . 1:139:0,72 . . . . . 1:110:0,62 1:133:0,63 . 1:184:0,93 . . 1:145:0,66 1:115:0,49 . . 1:125:0,62 . 1:141:0,73 . . . 1:139:0,67 . . . . 1:122:0,57 . . 1:121:0,58 . . 1:119:0,49 . 1/1:146:0,146 . 6 26091179 10;rs1799945 C G 200.00 . #_unique_end_positions=,34;#_unique_start_positions=,35;AC=15;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0113;AF_ESP_clinvar_20171029_hg19=,0.1107;AF_EXAC_clinvar_20171029_hg19=,0.10660;AF_TGP_clinvar_20171029_hg19=,0.0731;ALLELEID_clinvar_20171029_hg19=,15049;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1153;AN=15;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_620575.1:p.His63Asp|_NP_000401.1:p.His63Asp|_NP_620572.1:p.His63Asp|_NP_620578.1:p.His40Asp|_NP_620573.1:p.His63Asp|_NP_001287678.1:p.His63Asp;Amino_acid_change_in_longest_transcript=,NP_000401.1:p.His63Asp;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.9269|0.07308;CLNDISDB_clinvar_20171029_hg19=,MedGen:C0392514|SNOMED_CT:35400008|MedGen:C2673520|OMIM:612635|MedGen:C3469186|OMIM:235200|MedGen:CN169374|MedGen:CN517202;CLNDN_clinvar_20171029_hg19=,Hereditary_hemochromatosis|Microvascular_complications_of_diabetes_7|Hemochromatosis_type_1|not_specified|not_provided;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.26091179C>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_conflicting_interpretations;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:39285|OMIM_Allelic_Variant:613609.0002|UniProtKB_(protein):Q30201#VAR_004396;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000410.3:c.187C>G|_NM_001300749.1:c.187C>G|_NM_139003.2:c.187C>G|_NM_139004.2:c.187C>G|_NM_139006.2:c.187C>G|_NM_139007.2:c.77-363C>G|_NM_139008.2:c.77-363C>G|_NM_139009.2:c.118C>G|_NM_139010.2:c.77-1734C>G|_NM_139011.2:c.77-2168C>G;Coding_region_change_in_longest_transcript=,NM_000410.3:c.187C>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0288;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1720;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,82;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,HFE:3077;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:108783645|GeneID:3077;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:108783645|GeneID:3077;Genotype=,C/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:4886;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:4886;Homo_sapiens_refseq_GRCh37.p13_Genes=,LOC108783645|HFE;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NR_144383.1|NM_139004.2|NM_139003.2|NM_000410.3|NM_001300749.1|NM_139006.2|NM_139009.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene13203|gene13204;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna19067|rna19071|rna19072|rna19068|rna19069|rna19070|rna19073;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant|SO:0001627|intron_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:613609;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:613609;MTP_dbsnp_common_v150_hg19_refseq=,MTP;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;OM_dbsnp_common_v150_hg19_refseq=,OM;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene13203|gene13204;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,26091179;RS_dbsnp_common_v150_hg19_refseq=,1799945;Read_count=,58;Read_coverage=,122;Read_direction_test_probability=,0.9739432078183788;Read_position_test_probability=,0.7745627136196485;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NR_144383.1|NM_139004.2|NM_139003.2|NM_000410.3|NM_001300749.1|NM_139006.2|NM_139009.2;Reverse_read_coverage=,40;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0706;SF=0,5,11,12,14,17,18,21,23,27,32,35,38,40;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.91428|0.0857202;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050368080a0515053f130100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.178571;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.125;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0416667;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.002;db_xref=,GeneID:108783645|GeneID:3077|HGNC:HGNC:4886|MIM:613609;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NR_144383.1|Genbank:NM_139004.2|Genbank:NM_139003.2|Genbank:NM_000410.3|Genbank:NM_001300749.1|Genbank:NM_139006.2|Genbank:NM_139009.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HFE_antisense_RNA|hemochromatosis;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,ncRNA|mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LOC108783645|HFE;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,LOC108783645|HFE;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,antisense_RNA|protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HFE1|HH|HLA-H|MVCD7|TFQTL2;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HFE_antisense_RNA|hemochromatosis|_transcript_variant_4|hemochromatosis|_transcript_variant_3|hemochromatosis|_transcript_variant_1|hemochromatosis|_transcript_variant_12|hemochromatosis|_transcript_variant_6|hemochromatosis|_transcript_variant_9;transcript_id=,NR_144383.1|NM_139004.2|NM_139003.2|NM_000410.3|NM_001300749.1|NM_139006.2|NM_139009.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,antisense_RNA|mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=HFE;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=HFE:NM_000410:exon2:c.C187G:p.H63D,HFE:NM_001300749:exon2:c.C187G:p.H63D,HFE:NM_139003:exon2:c.C187G:p.H63D,HFE:NM_139004:exon2:c.C187G:p.H63D,HFE:NM_139006:exon2:c.C187G:p.H63D,HFE:NM_139009:exon2:c.C118G:p.H40D;cytoBand=6p22.2;genomicSuperDups=.;esp6500siv2_all=0.1107;esp6500siv2_ea=0.1513;esp6500siv2_all=0.1107;esp6500siv2_ea=0.1513;1000g2015aug_all=0.0730831;avsnp147=rs1799945;Kaviar_AF=0.109171;Kaviar_AC=16878;Kaviar_AN=154602;ExAC_ALL=0.1066;ExAC_AFR=0.0290;ExAC_AMR=0.0959;ExAC_EAS=0.0365;ExAC_FIN=0.1031;ExAC_NFE=0.1368;ExAC_OTH=0.1300;ExAC_SAS=0.0779;CLNALLELEID=15049;CLNDN=Hereditary_hemochromatosis|Microvascular_complications_of_diabetes_7|Hemochromatosis_type_1|not_provided;CLNDISDB=MedGen:C0392514,SNOMED_CT:35400008|MedGen:C2673520,OMIM:612635|MedGen:C3469186,OMIM:235200|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Pathogenic,_other,_risk_factor;SIFT_score=0.378;SIFT_pred=T;Polyphen2_HDIV_score=0.991;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.883;Polyphen2_HVAR_pred=P;LRT_score=0.347;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=1.89;MutationAssessor_pred=L;FATHMM_score=5.87;FATHMM_pred=T;PROVEAN_score=-1.23;PROVEAN_pred=N;VEST3_score=0.62;CADD_raw=4.570;CADD_phred=24.4;DANN_score=0.985;fathmm-MKL_coding_score=0.079;fathmm-MKL_coding_pred=N;MetaSVM_score=0.103;MetaSVM_pred=D;MetaLR_score=0.631;MetaLR_pred=D;integrated_fitCons_score=0.624;integrated_confidence_value=0;GERP++_RS=3.51;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.692;phastCons20way_mammalian=0.981;SiPhy_29way_logOdds=6.685;GDI_full_10282015=.;dpsi_max_tissue=0.1664;dpsi_zscore=0.654;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM960827#"Haemochromatosis_association_with";gnomAD_exome_ALL=0.1095;gnomAD_exome_AFR=0.0260;gnomAD_exome_AMR=0.1010;gnomAD_exome_ASJ=0.1095;gnomAD_exome_EAS=0.0353;gnomAD_exome_FIN=0.1036;gnomAD_exome_NFE=0.1441;gnomAD_exome_OTH=0.1174;gnomAD_exome_SAS=0.0796;gnomAD_genome_ALL=0.0985;gnomAD_genome_AFR=0.0281;gnomAD_genome_AMR=0.0959;gnomAD_genome_ASJ=0.1093;gnomAD_genome_EAS=0.0272;gnomAD_genome_FIN=0.1060;gnomAD_genome_NFE=0.1440;gnomAD_genome_OTH=0.1199;Whole_Blood=Whole_Blood::0.135501::0.417212;Liver=.;ALLELE_END;COSO_score=1 GT:DP:CLCAD2 1:106:0,49 . . . . 1:139:0,72 . . . . . 1:110:0,62 1:133:0,63 . 1:184:0,93 . . 1:145:0,66 1:115:0,49 . . 1:125:0,62 . 1:141:0,73 . . . 1:139:0,67 . . . . 1:122:0,57 . . 1:121:0,58 . . 1:119:0,49 . 1/1:146:0,146 . 6 26091185 11;rs1800730 A T 200.00 . #_unique_end_positions=,34;#_unique_start_positions=,31;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0111;AF_EXAC_clinvar_20171029_hg19=,0.01009;AF_TGP_clinvar_20171029_hg19=,0.0040;ALLELEID_clinvar_20171029_hg19=,15050;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0043;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001287678.1:p.Ser65Cys|_NP_620578.1:p.Ser42Cys|_NP_620575.1:p.Ser65Cys|_NP_620573.1:p.Ser65Cys|_NP_000401.1:p.Ser65Cys|_NP_620572.1:p.Ser65Cys;Amino_acid_change_in_longest_transcript=,NP_000401.1:p.Ser65Cys;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.996|0.003994;CLNDISDB_clinvar_20171029_hg19=,MedGen:C0392514|SNOMED_CT:35400008|MedGen:C3469186|OMIM:235200;CLNDN_clinvar_20171029_hg19=,Hereditary_hemochromatosis|Hemochromatosis_type_1;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.26091185A>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_conflicting_interpretations;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:65527|OMIM_Allelic_Variant:613609.0003|UniProtKB_(protein):Q30201#VAR_004397;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000410.3:c.193A>T|_NM_001300749.1:c.193A>T|_NM_139003.2:c.193A>T|_NM_139004.2:c.193A>T|_NM_139006.2:c.193A>T|_NM_139007.2:c.77-357A>T|_NM_139008.2:c.77-357A>T|_NM_139009.2:c.124A>T|_NM_139010.2:c.77-1728A>T|_NM_139011.2:c.77-2162A>T;Coding_region_change_in_longest_transcript=,NM_000410.3:c.193A>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0159;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,76;GENEINFO_dbsnp_common_v150_hg19_refseq=,HFE:3077;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:108783645|GeneID:3077;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:108783645|GeneID:3077;Genotype=,A/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:4886;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:4886;Homo_sapiens_refseq_GRCh37.p13_Genes=,LOC108783645|HFE;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NR_144383.1|NM_139004.2|NM_139003.2|NM_000410.3|NM_001300749.1|NM_139006.2|NM_139009.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene13203|gene13204;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna19067|rna19071|rna19072|rna19068|rna19069|rna19070|rna19073;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant|SO:0001627|intron_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:613609;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:613609;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;OM_dbsnp_common_v150_hg19_refseq=,OM;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene13203|gene13204;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,26091185;RS_dbsnp_common_v150_hg19_refseq=,1800730;Read_count=,53;Read_coverage=,141;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.5228344055427825;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NR_144383.1|NM_139004.2|NM_139003.2|NM_000410.3|NM_001300749.1|NM_139006.2|NM_139009.2;Reverse_read_coverage=,65;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;SF=36;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.990968|0.00903221;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050368080a05040436110100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.998;db_xref=,GeneID:108783645|GeneID:3077|HGNC:HGNC:4886|MIM:613609;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NR_144383.1|Genbank:NM_139004.2|Genbank:NM_139003.2|Genbank:NM_000410.3|Genbank:NM_001300749.1|Genbank:NM_139006.2|Genbank:NM_139009.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HFE_antisense_RNA|hemochromatosis;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,ncRNA|mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LOC108783645|HFE;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,LOC108783645|HFE;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,antisense_RNA|protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HFE1|HH|HLA-H|MVCD7|TFQTL2;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HFE_antisense_RNA|hemochromatosis|_transcript_variant_4|hemochromatosis|_transcript_variant_3|hemochromatosis|_transcript_variant_1|hemochromatosis|_transcript_variant_12|hemochromatosis|_transcript_variant_6|hemochromatosis|_transcript_variant_9;transcript_id=,NR_144383.1|NM_139004.2|NM_139003.2|NM_000410.3|NM_001300749.1|NM_139006.2|NM_139009.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,antisense_RNA|mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=HFE;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=HFE:NM_000410:exon2:c.A193T:p.S65C,HFE:NM_001300749:exon2:c.A193T:p.S65C,HFE:NM_139003:exon2:c.A193T:p.S65C,HFE:NM_139004:exon2:c.A193T:p.S65C,HFE:NM_139006:exon2:c.A193T:p.S65C,HFE:NM_139009:exon2:c.A124T:p.S42C;cytoBand=6p22.2;genomicSuperDups=.;esp6500siv2_all=0.0111;esp6500siv2_ea=0.0151;esp6500siv2_all=0.0111;esp6500siv2_ea=0.0151;1000g2015aug_all=0.00399361;avsnp147=rs1800730;Kaviar_AF=0.0102263;Kaviar_AC=1581;Kaviar_AN=154602;ExAC_ALL=0.0101;ExAC_AFR=0.0022;ExAC_AMR=0.0041;ExAC_EAS=0.0002;ExAC_FIN=0.0195;ExAC_NFE=0.0149;ExAC_OTH=0.0099;ExAC_SAS=0.0010;CLNALLELEID=15050;CLNDN=Hereditary_hemochromatosis|Hemochromatosis_type_1;CLNDISDB=MedGen:C0392514,SNOMED_CT:35400008|MedGen:C3469186,OMIM:235200;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.008;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_pred=D;LRT_score=0.169;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=A;MutationAssessor_score=2.845;MutationAssessor_pred=M;FATHMM_score=5.72;FATHMM_pred=T;PROVEAN_score=-2.58;PROVEAN_pred=D;VEST3_score=0.641;CADD_raw=4.972;CADD_phred=25.1;DANN_score=0.992;fathmm-MKL_coding_score=0.716;fathmm-MKL_coding_pred=D;MetaSVM_score=0.653;MetaSVM_pred=D;MetaLR_score=0.793;MetaLR_pred=D;integrated_fitCons_score=0.624;integrated_confidence_value=0;GERP++_RS=4.13;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.199;phastCons7way_vertebrate=0.712;phastCons20way_mammalian=0.998;SiPhy_29way_logOdds=7.645;GDI_full_10282015=.;dpsi_max_tissue=0.0912;dpsi_zscore=0.457;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM990718#"Haemochromatosis_association_with";gnomAD_exome_ALL=0.0103;gnomAD_exome_AFR=0.0022;gnomAD_exome_AMR=0.0047;gnomAD_exome_ASJ=0.0036;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0.0217;gnomAD_exome_NFE=0.0155;gnomAD_exome_OTH=0.0102;gnomAD_exome_SAS=0.0010;gnomAD_genome_ALL=0.0101;gnomAD_genome_AFR=0.0029;gnomAD_genome_AMR=0.0048;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0195;gnomAD_genome_NFE=0.0137;gnomAD_genome_OTH=0.0102;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:121:0,46 . . . . . 6 26091185 11;rs1800730 A T 200.00 . #_unique_end_positions=,34;#_unique_start_positions=,31;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0111;AF_EXAC_clinvar_20171029_hg19=,0.01009;AF_TGP_clinvar_20171029_hg19=,0.0040;ALLELEID_clinvar_20171029_hg19=,15050;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0043;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001287678.1:p.Ser65Cys|_NP_620578.1:p.Ser42Cys|_NP_620575.1:p.Ser65Cys|_NP_620573.1:p.Ser65Cys|_NP_000401.1:p.Ser65Cys|_NP_620572.1:p.Ser65Cys;Amino_acid_change_in_longest_transcript=,NP_000401.1:p.Ser65Cys;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.996|0.003994;CLNDISDB_clinvar_20171029_hg19=,MedGen:C0392514|SNOMED_CT:35400008|MedGen:C3469186|OMIM:235200;CLNDN_clinvar_20171029_hg19=,Hereditary_hemochromatosis|Hemochromatosis_type_1;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.26091185A>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_conflicting_interpretations;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:65527|OMIM_Allelic_Variant:613609.0003|UniProtKB_(protein):Q30201#VAR_004397;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000410.3:c.193A>T|_NM_001300749.1:c.193A>T|_NM_139003.2:c.193A>T|_NM_139004.2:c.193A>T|_NM_139006.2:c.193A>T|_NM_139007.2:c.77-357A>T|_NM_139008.2:c.77-357A>T|_NM_139009.2:c.124A>T|_NM_139010.2:c.77-1728A>T|_NM_139011.2:c.77-2162A>T;Coding_region_change_in_longest_transcript=,NM_000410.3:c.193A>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0159;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,76;GENEINFO_dbsnp_common_v150_hg19_refseq=,HFE:3077;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:108783645|GeneID:3077;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:108783645|GeneID:3077;Genotype=,A/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:4886;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:4886;Homo_sapiens_refseq_GRCh37.p13_Genes=,LOC108783645|HFE;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NR_144383.1|NM_139004.2|NM_139003.2|NM_000410.3|NM_001300749.1|NM_139006.2|NM_139009.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene13203|gene13204;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna19067|rna19071|rna19072|rna19068|rna19069|rna19070|rna19073;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant|SO:0001627|intron_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:613609;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:613609;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;OM_dbsnp_common_v150_hg19_refseq=,OM;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene13203|gene13204;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,26091185;RS_dbsnp_common_v150_hg19_refseq=,1800730;Read_count=,53;Read_coverage=,141;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.5228344055427825;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NR_144383.1|NM_139004.2|NM_139003.2|NM_000410.3|NM_001300749.1|NM_139006.2|NM_139009.2;Reverse_read_coverage=,65;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;SF=36;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.990968|0.00903221;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050368080a05040436110100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.998;db_xref=,GeneID:108783645|GeneID:3077|HGNC:HGNC:4886|MIM:613609;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NR_144383.1|Genbank:NM_139004.2|Genbank:NM_139003.2|Genbank:NM_000410.3|Genbank:NM_001300749.1|Genbank:NM_139006.2|Genbank:NM_139009.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HFE_antisense_RNA|hemochromatosis;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,ncRNA|mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LOC108783645|HFE;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,LOC108783645|HFE;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,antisense_RNA|protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HFE1|HH|HLA-H|MVCD7|TFQTL2;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HFE_antisense_RNA|hemochromatosis|_transcript_variant_4|hemochromatosis|_transcript_variant_3|hemochromatosis|_transcript_variant_1|hemochromatosis|_transcript_variant_12|hemochromatosis|_transcript_variant_6|hemochromatosis|_transcript_variant_9;transcript_id=,NR_144383.1|NM_139004.2|NM_139003.2|NM_000410.3|NM_001300749.1|NM_139006.2|NM_139009.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,antisense_RNA|mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=HFE;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=HFE:NM_000410:exon2:c.A193T:p.S65C,HFE:NM_001300749:exon2:c.A193T:p.S65C,HFE:NM_139003:exon2:c.A193T:p.S65C,HFE:NM_139004:exon2:c.A193T:p.S65C,HFE:NM_139006:exon2:c.A193T:p.S65C,HFE:NM_139009:exon2:c.A124T:p.S42C;cytoBand=6p22.2;genomicSuperDups=.;esp6500siv2_all=0.0111;esp6500siv2_ea=0.0151;esp6500siv2_all=0.0111;esp6500siv2_ea=0.0151;1000g2015aug_all=0.00399361;avsnp147=rs1800730;Kaviar_AF=0.0102263;Kaviar_AC=1581;Kaviar_AN=154602;ExAC_ALL=0.0101;ExAC_AFR=0.0022;ExAC_AMR=0.0041;ExAC_EAS=0.0002;ExAC_FIN=0.0195;ExAC_NFE=0.0149;ExAC_OTH=0.0099;ExAC_SAS=0.0010;CLNALLELEID=15050;CLNDN=Hereditary_hemochromatosis|Hemochromatosis_type_1;CLNDISDB=MedGen:C0392514,SNOMED_CT:35400008|MedGen:C3469186,OMIM:235200;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.008;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_pred=D;LRT_score=0.169;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=A;MutationAssessor_score=2.845;MutationAssessor_pred=M;FATHMM_score=5.72;FATHMM_pred=T;PROVEAN_score=-2.58;PROVEAN_pred=D;VEST3_score=0.641;CADD_raw=4.972;CADD_phred=25.1;DANN_score=0.992;fathmm-MKL_coding_score=0.716;fathmm-MKL_coding_pred=D;MetaSVM_score=0.653;MetaSVM_pred=D;MetaLR_score=0.793;MetaLR_pred=D;integrated_fitCons_score=0.624;integrated_confidence_value=0;GERP++_RS=4.13;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.199;phastCons7way_vertebrate=0.712;phastCons20way_mammalian=0.998;SiPhy_29way_logOdds=7.645;GDI_full_10282015=.;dpsi_max_tissue=0.0912;dpsi_zscore=0.457;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM990718#"Haemochromatosis_association_with";gnomAD_exome_ALL=0.0103;gnomAD_exome_AFR=0.0022;gnomAD_exome_AMR=0.0047;gnomAD_exome_ASJ=0.0036;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0.0217;gnomAD_exome_NFE=0.0155;gnomAD_exome_OTH=0.0102;gnomAD_exome_SAS=0.0010;gnomAD_genome_ALL=0.0101;gnomAD_genome_AFR=0.0029;gnomAD_genome_AMR=0.0048;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0195;gnomAD_genome_NFE=0.0137;gnomAD_genome_OTH=0.0102;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:121:0,46 . . . . . 6 26093141 9;rs1800562 G A 200.00 . #_unique_end_positions=,40;#_unique_start_positions=,36;AC=4;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0023;AF_ESP_clinvar_20171029_hg19=,0.0475;AF_EXAC_clinvar_20171029_hg19=,0.03243;AF_TGP_clinvar_20171029_hg19=,0.0126;ALLELEID_clinvar_20171029_hg19=,15048;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0216;AN=4;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_620578.1:p.Cys259Tyr|_NP_620573.1:p.Cys190Tyr|_NP_620579.1:p.Cys102Tyr|_NP_000401.1:p.Cys282Tyr|_NP_620577.1:p.Cys180Tyr|_NP_620572.1:p.Cys176Tyr|_NP_620575.1:p.Cys268Tyr|_NP_620576.1:p.Cys194Tyr|_NP_001287678.1:p.Cys282Tyr;Amino_acid_change_in_longest_transcript=,NP_000401.1:p.Cys282Tyr;BaseQRankSum=,-0.17;CAF_dbsnp_common_v150_hg19_refseq=,0.9874|0.01258;CLNDISDB_clinvar_20171029_hg19=,.|.|.|Human_Phenotype_Ontology:HP:0000992|MedGen:C0349506|Human_Phenotype_Ontology:HP:0010473|MedGen:C0151861|MedGen:C0027672|SNOMED_CT:699346009|MedGen:C0392514|SNOMED_CT:35400008|MedGen:C2673520|OMIM:612635|MedGen:C3150862|MedGen:C3280096|OMIM:614193|MedGen:C3469186|OMIM:235200|MedGen:CN169374|MedGen:CN517202;CLNDN_clinvar_20171029_hg19=,Alzheimer_disease|_susceptibility_to|Porphyria_cutanea_tarda|_susceptibility_to|Porphyria_variegata|_susceptibility_to|Cutaneous_photosensitivity|Porphyrinuria|Hereditary_cancer-predisposing_syndrome|Hereditary_hemochromatosis|Microvascular_complications_of_diabetes_7|Hemochromatosis|_juvenile|_digenic|Transferrin_serum_level_quantitative_trait_locus_2|Hemochromatosis_type_1|not_specified|not_provided;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.26093141G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_conflicting_interpretations;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Centre_for_Mendelian_Genomics|University_Medical_Centre_Ljubljana:CMGVARID00603|Illumina_Clinical_Services_Laboratory|Illumina:57145|OMIM_Allelic_Variant:613609.0001|UniProtKB_(protein):Q30201#VAR_004398;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000410.3:c.845G>A|_NM_001300749.1:c.845G>A|_NM_139003.2:c.527G>A|_NM_139004.2:c.569G>A|_NM_139006.2:c.803G>A|_NM_139007.2:c.581G>A|_NM_139008.2:c.539G>A|_NM_139009.2:c.776G>A|_NM_139010.2:c.305G>A|_NM_139011.2:c.77-206G>A;Coding_region_change_in_longest_transcript=,NM_000410.3:c.845G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0427;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,51;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,HFE:3077;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:3077;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:3077;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:4886;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:4886;Homo_sapiens_refseq_GRCh37.p13_Genes=,HFE;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_139010.2|NM_139004.2|NM_139003.2|NM_139007.2|NM_139008.2|NM_000410.3|NM_001300749.1|NM_139006.2|NM_139009.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene13204;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna19076|rna19071|rna19072|rna19074|rna19075|rna19068|rna19069|rna19070|rna19073;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant|SO:0001627|intron_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:613609;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:613609;MTP_dbsnp_common_v150_hg19_refseq=,MTP;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;OM_dbsnp_common_v150_hg19_refseq=,OM;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene13204;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,26093141;RS_dbsnp_common_v150_hg19_refseq=,1800562;Read_count=,51;Read_coverage=,100;Read_direction_test_probability=,0.8358353766569065;Read_position_test_probability=,0.971910132004903;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_139010.2|NM_139004.2|NM_139003.2|NM_139007.2|NM_139008.2|NM_000410.3|NM_001300749.1|NM_139006.2|NM_139009.2;Reverse_read_coverage=,49;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0020;SF=6,7,23,38;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.96813|0.0318703;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050368080a05150537130100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.0102041;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0530973;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.00588235;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.00568182;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.0102041;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.0284091;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.993;db_xref=,GeneID:3077|HGNC:HGNC:4886|MIM:613609;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_139010.2|Genbank:NM_139004.2|Genbank:NM_139003.2|Genbank:NM_139007.2|Genbank:NM_139008.2|Genbank:NM_000410.3|Genbank:NM_001300749.1|Genbank:NM_139006.2|Genbank:NM_139009.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,hemochromatosis;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HFE;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HFE;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HFE1|HH|HLA-H|MVCD7|TFQTL2;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,hemochromatosis|_transcript_variant_10|hemochromatosis|_transcript_variant_4|hemochromatosis|_transcript_variant_3|hemochromatosis|_transcript_variant_7|hemochromatosis|_transcript_variant_8|hemochromatosis|_transcript_variant_1|hemochromatosis|_transcript_variant_12|hemochromatosis|_transcript_variant_6|hemochromatosis|_transcript_variant_9;transcript_id=,NM_139010.2|NM_139004.2|NM_139003.2|NM_139007.2|NM_139008.2|NM_000410.3|NM_001300749.1|NM_139006.2|NM_139009.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=HFE;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=HFE:NM_139010:exon2:c.G305A:p.C102Y,HFE:NM_139003:exon3:c.G527A:p.C176Y,HFE:NM_139004:exon3:c.G569A:p.C190Y,HFE:NM_139007:exon3:c.G581A:p.C194Y,HFE:NM_139008:exon3:c.G539A:p.C180Y,HFE:NM_000410:exon4:c.G845A:p.C282Y,HFE:NM_001300749:exon4:c.G845A:p.C282Y,HFE:NM_139006:exon4:c.G803A:p.C268Y,HFE:NM_139009:exon4:c.G776A:p.C259Y;cytoBand=6p22.2;genomicSuperDups=.;esp6500siv2_all=0.0475;esp6500siv2_ea=0.0641;esp6500siv2_all=0.0475;esp6500siv2_ea=0.0641;1000g2015aug_all=0.0125799;avsnp147=rs1800562;Kaviar_AF=0.0349737;Kaviar_AC=5407;Kaviar_AN=154602;ExAC_ALL=0.0324;ExAC_AFR=0.0101;ExAC_AMR=0.0115;ExAC_EAS=0.0001;ExAC_FIN=0.0322;ExAC_NFE=0.0514;ExAC_OTH=0.0220;ExAC_SAS=0.0023;CLNALLELEID=15048;CLNDN=Alzheimer_disease,_susceptibility_to|Porphyria_cutanea_tarda,_susceptibility_to|Porphyria_variegata,_susceptibility_to|Cutaneous_photosensitivity|Porphyrinuria|Hereditary_cancer-predisposing_syndrome|Hereditary_hemochromatosis|Microvascular_complications_of_diabetes_7|Hemochromatosis,_juvenile,_digenic|Transferrin_serum_level_quantitative_trait_locus_2|Hemochromatosis_type_1|not_provided;CLNDISDB=.|.|.|Human_Phenotype_Ontology:HP:0000992,MedGen:C0349506|Human_Phenotype_Ontology:HP:0010473,MedGen:C0151861|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C0392514,SNOMED_CT:35400008|MedGen:C2673520,OMIM:612635|MedGen:C3150862|MedGen:C3280096,OMIM:614193|MedGen:C3469186,OMIM:235200|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity,_association,_other,_risk_factor;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=A;MutationAssessor_score=4.445;MutationAssessor_pred=H;FATHMM_score=-3.68;FATHMM_pred=D;PROVEAN_score=-8.23;PROVEAN_pred=D;VEST3_score=0.993;CADD_raw=5.270;CADD_phred=25.7;DANN_score=0.994;fathmm-MKL_coding_score=0.950;fathmm-MKL_coding_pred=D;MetaSVM_score=1.073;MetaSVM_pred=D;MetaLR_score=0.952;MetaLR_pred=D;integrated_fitCons_score=0.624;integrated_confidence_value=0;GERP++_RS=5.35;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.669;phastCons20way_mammalian=0.895;SiPhy_29way_logOdds=14.751;GDI_full_10282015=.;dpsi_max_tissue=0.2971;dpsi_zscore=0.887;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM960828#"Haemochromatosis_association_with";gnomAD_exome_ALL=0.0332;gnomAD_exome_AFR=0.0099;gnomAD_exome_AMR=0.0137;gnomAD_exome_ASJ=0.0115;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0.0350;gnomAD_exome_NFE=0.0573;gnomAD_exome_OTH=0.0354;gnomAD_exome_SAS=0.0022;gnomAD_genome_ALL=0.0378;gnomAD_genome_AFR=0.0102;gnomAD_genome_AMR=0.0288;gnomAD_genome_ASJ=0.0199;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0352;gnomAD_genome_NFE=0.0593;gnomAD_genome_OTH=0.0387;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . 1:97:0,49 1:134:0,67 . . . . . . . . . . . . . . . 1:173:0,77 . . . . . . . . . . . . . . 1:120:0,53 . . . 6 26093141 9;rs1800562 G A 200.00 . #_unique_end_positions=,40;#_unique_start_positions=,36;AC=4;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0023;AF_ESP_clinvar_20171029_hg19=,0.0475;AF_EXAC_clinvar_20171029_hg19=,0.03243;AF_TGP_clinvar_20171029_hg19=,0.0126;ALLELEID_clinvar_20171029_hg19=,15048;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0216;AN=4;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_620578.1:p.Cys259Tyr|_NP_620573.1:p.Cys190Tyr|_NP_620579.1:p.Cys102Tyr|_NP_000401.1:p.Cys282Tyr|_NP_620577.1:p.Cys180Tyr|_NP_620572.1:p.Cys176Tyr|_NP_620575.1:p.Cys268Tyr|_NP_620576.1:p.Cys194Tyr|_NP_001287678.1:p.Cys282Tyr;Amino_acid_change_in_longest_transcript=,NP_000401.1:p.Cys282Tyr;BaseQRankSum=,-0.17;CAF_dbsnp_common_v150_hg19_refseq=,0.9874|0.01258;CLNDISDB_clinvar_20171029_hg19=,.|.|.|Human_Phenotype_Ontology:HP:0000992|MedGen:C0349506|Human_Phenotype_Ontology:HP:0010473|MedGen:C0151861|MedGen:C0027672|SNOMED_CT:699346009|MedGen:C0392514|SNOMED_CT:35400008|MedGen:C2673520|OMIM:612635|MedGen:C3150862|MedGen:C3280096|OMIM:614193|MedGen:C3469186|OMIM:235200|MedGen:CN169374|MedGen:CN517202;CLNDN_clinvar_20171029_hg19=,Alzheimer_disease|_susceptibility_to|Porphyria_cutanea_tarda|_susceptibility_to|Porphyria_variegata|_susceptibility_to|Cutaneous_photosensitivity|Porphyrinuria|Hereditary_cancer-predisposing_syndrome|Hereditary_hemochromatosis|Microvascular_complications_of_diabetes_7|Hemochromatosis|_juvenile|_digenic|Transferrin_serum_level_quantitative_trait_locus_2|Hemochromatosis_type_1|not_specified|not_provided;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.26093141G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_conflicting_interpretations;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Centre_for_Mendelian_Genomics|University_Medical_Centre_Ljubljana:CMGVARID00603|Illumina_Clinical_Services_Laboratory|Illumina:57145|OMIM_Allelic_Variant:613609.0001|UniProtKB_(protein):Q30201#VAR_004398;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000410.3:c.845G>A|_NM_001300749.1:c.845G>A|_NM_139003.2:c.527G>A|_NM_139004.2:c.569G>A|_NM_139006.2:c.803G>A|_NM_139007.2:c.581G>A|_NM_139008.2:c.539G>A|_NM_139009.2:c.776G>A|_NM_139010.2:c.305G>A|_NM_139011.2:c.77-206G>A;Coding_region_change_in_longest_transcript=,NM_000410.3:c.845G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0427;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,51;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,HFE:3077;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:3077;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:3077;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:4886;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:4886;Homo_sapiens_refseq_GRCh37.p13_Genes=,HFE;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_139010.2|NM_139004.2|NM_139003.2|NM_139007.2|NM_139008.2|NM_000410.3|NM_001300749.1|NM_139006.2|NM_139009.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene13204;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna19076|rna19071|rna19072|rna19074|rna19075|rna19068|rna19069|rna19070|rna19073;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant|SO:0001627|intron_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:613609;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:613609;MTP_dbsnp_common_v150_hg19_refseq=,MTP;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;OM_dbsnp_common_v150_hg19_refseq=,OM;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene13204;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,26093141;RS_dbsnp_common_v150_hg19_refseq=,1800562;Read_count=,51;Read_coverage=,100;Read_direction_test_probability=,0.8358353766569065;Read_position_test_probability=,0.971910132004903;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_139010.2|NM_139004.2|NM_139003.2|NM_139007.2|NM_139008.2|NM_000410.3|NM_001300749.1|NM_139006.2|NM_139009.2;Reverse_read_coverage=,49;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0020;SF=6,7,23,38;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.96813|0.0318703;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050368080a05150537130100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.0102041;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0530973;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.00588235;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.00568182;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.0102041;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.0284091;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.993;db_xref=,GeneID:3077|HGNC:HGNC:4886|MIM:613609;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_139010.2|Genbank:NM_139004.2|Genbank:NM_139003.2|Genbank:NM_139007.2|Genbank:NM_139008.2|Genbank:NM_000410.3|Genbank:NM_001300749.1|Genbank:NM_139006.2|Genbank:NM_139009.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,hemochromatosis;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HFE;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HFE;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HFE1|HH|HLA-H|MVCD7|TFQTL2;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,hemochromatosis|_transcript_variant_10|hemochromatosis|_transcript_variant_4|hemochromatosis|_transcript_variant_3|hemochromatosis|_transcript_variant_7|hemochromatosis|_transcript_variant_8|hemochromatosis|_transcript_variant_1|hemochromatosis|_transcript_variant_12|hemochromatosis|_transcript_variant_6|hemochromatosis|_transcript_variant_9;transcript_id=,NM_139010.2|NM_139004.2|NM_139003.2|NM_139007.2|NM_139008.2|NM_000410.3|NM_001300749.1|NM_139006.2|NM_139009.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=HFE;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=HFE:NM_139010:exon2:c.G305A:p.C102Y,HFE:NM_139003:exon3:c.G527A:p.C176Y,HFE:NM_139004:exon3:c.G569A:p.C190Y,HFE:NM_139007:exon3:c.G581A:p.C194Y,HFE:NM_139008:exon3:c.G539A:p.C180Y,HFE:NM_000410:exon4:c.G845A:p.C282Y,HFE:NM_001300749:exon4:c.G845A:p.C282Y,HFE:NM_139006:exon4:c.G803A:p.C268Y,HFE:NM_139009:exon4:c.G776A:p.C259Y;cytoBand=6p22.2;genomicSuperDups=.;esp6500siv2_all=0.0475;esp6500siv2_ea=0.0641;esp6500siv2_all=0.0475;esp6500siv2_ea=0.0641;1000g2015aug_all=0.0125799;avsnp147=rs1800562;Kaviar_AF=0.0349737;Kaviar_AC=5407;Kaviar_AN=154602;ExAC_ALL=0.0324;ExAC_AFR=0.0101;ExAC_AMR=0.0115;ExAC_EAS=0.0001;ExAC_FIN=0.0322;ExAC_NFE=0.0514;ExAC_OTH=0.0220;ExAC_SAS=0.0023;CLNALLELEID=15048;CLNDN=Alzheimer_disease,_susceptibility_to|Porphyria_cutanea_tarda,_susceptibility_to|Porphyria_variegata,_susceptibility_to|Cutaneous_photosensitivity|Porphyrinuria|Hereditary_cancer-predisposing_syndrome|Hereditary_hemochromatosis|Microvascular_complications_of_diabetes_7|Hemochromatosis,_juvenile,_digenic|Transferrin_serum_level_quantitative_trait_locus_2|Hemochromatosis_type_1|not_provided;CLNDISDB=.|.|.|Human_Phenotype_Ontology:HP:0000992,MedGen:C0349506|Human_Phenotype_Ontology:HP:0010473,MedGen:C0151861|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C0392514,SNOMED_CT:35400008|MedGen:C2673520,OMIM:612635|MedGen:C3150862|MedGen:C3280096,OMIM:614193|MedGen:C3469186,OMIM:235200|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity,_association,_other,_risk_factor;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=A;MutationAssessor_score=4.445;MutationAssessor_pred=H;FATHMM_score=-3.68;FATHMM_pred=D;PROVEAN_score=-8.23;PROVEAN_pred=D;VEST3_score=0.993;CADD_raw=5.270;CADD_phred=25.7;DANN_score=0.994;fathmm-MKL_coding_score=0.950;fathmm-MKL_coding_pred=D;MetaSVM_score=1.073;MetaSVM_pred=D;MetaLR_score=0.952;MetaLR_pred=D;integrated_fitCons_score=0.624;integrated_confidence_value=0;GERP++_RS=5.35;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.669;phastCons20way_mammalian=0.895;SiPhy_29way_logOdds=14.751;GDI_full_10282015=.;dpsi_max_tissue=0.2971;dpsi_zscore=0.887;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM960828#"Haemochromatosis_association_with";gnomAD_exome_ALL=0.0332;gnomAD_exome_AFR=0.0099;gnomAD_exome_AMR=0.0137;gnomAD_exome_ASJ=0.0115;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0.0350;gnomAD_exome_NFE=0.0573;gnomAD_exome_OTH=0.0354;gnomAD_exome_SAS=0.0022;gnomAD_genome_ALL=0.0378;gnomAD_genome_AFR=0.0102;gnomAD_genome_AMR=0.0288;gnomAD_genome_ASJ=0.0199;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0352;gnomAD_genome_NFE=0.0593;gnomAD_genome_OTH=0.0387;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . 1:97:0,49 1:134:0,67 . . . . . . . . . . . . . . . 1:173:0,77 . . . . . . . . . . . . . . 1:120:0,53 . . . 6 26093236 14;rs1800758 G A 200.00 . #_unique_end_positions=,39;#_unique_start_positions=,36;AC=10;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1513;AF_ESP_clinvar_20171029_hg19=,0.1353;AF_EXAC_clinvar_20171029_hg19=,0.13432;AF_TGP_clinvar_20171029_hg19=,0.1314;ALLELEID_clinvar_20171029_hg19=,15053;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1354;AN=10;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.8686|0.1314;CLNDISDB_clinvar_20171029_hg19=,.;CLNDN_clinvar_20171029_hg19=,HFE_INTRONIC_POLYMORPHISM;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.26093236G>A;CLNREVSTAT_clinvar_20171029_hg19=,no_assertion_criteria_provided;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,OMIM_Allelic_Variant:613609.0004;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000410.3:c.892+48G>A|_NM_001300749.1:c.892+48G>A|_NM_139003.2:c.574+48G>A|_NM_139004.2:c.616+48G>A|_NM_139006.2:c.850+48G>A|_NM_139007.2:c.628+48G>A|_NM_139008.2:c.586+48G>A|_NM_139009.2:c.823+48G>A|_NM_139010.2:c.352+48G>A|_NM_139011.2:c.77-111G>A;Coding_region_change_in_longest_transcript=,NM_000410.3:c.892+48G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0665;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0994;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,54;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,HFE:3077;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:3077;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:4886;Homo_sapiens_refseq_GRCh37.p13_Genes=,HFE;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene13204;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001627|intron_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:613609;Non-synonymous=,-;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;QUAL=,200.0;RSPOS_dbsnp_common_v150_hg19_refseq=,26093236;RS_dbsnp_common_v150_hg19_refseq=,1800758;Read_count=,51;Read_coverage=,119;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.5923750769459957;Reverse_read_coverage=,65;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2014;SF=1,2,14,19,21,24,26,31,34;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.859915|0.140085;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05016808000515053f100100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0125;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0294118;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.225;db_xref=,GeneID:3077|HGNC:HGNC:4886|MIM:613609;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,hemochromatosis;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HFE;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HFE1|HH|HLA-H|MVCD7|TFQTL2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=HFE;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6p22.2;genomicSuperDups=.;esp6500siv2_all=0.1352;esp6500siv2_ea=0.1291;esp6500siv2_all=0.1352;esp6500siv2_ea=0.1291;1000g2015aug_all=0.13139;avsnp147=rs1800758;Kaviar_AF=0.129895;Kaviar_AC=20082;Kaviar_AN=154602;ExAC_ALL=0.1343;ExAC_AFR=0.1497;ExAC_AMR=0.1212;ExAC_EAS=0.0465;ExAC_FIN=0.0961;ExAC_NFE=0.1300;ExAC_OTH=0.1487;ExAC_SAS=0.2118;CLNALLELEID=15053;CLNDN=HFE_INTRONIC_POLYMORPHISM;CLNDISDB=.;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.2115;dpsi_zscore=0.745;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1323;gnomAD_exome_AFR=0.1508;gnomAD_exome_AMR=0.1181;gnomAD_exome_ASJ=0.2160;gnomAD_exome_EAS=0.0433;gnomAD_exome_FIN=0.1005;gnomAD_exome_NFE=0.1251;gnomAD_exome_OTH=0.1366;gnomAD_exome_SAS=0.2098;gnomAD_genome_ALL=0.1249;gnomAD_genome_AFR=0.1438;gnomAD_genome_AMR=0.1271;gnomAD_genome_ASJ=0.1933;gnomAD_genome_EAS=0.0493;gnomAD_genome_FIN=0.0971;gnomAD_genome_NFE=0.1261;gnomAD_genome_OTH=0.1407;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . 1:113:0,50 1:108:0,55 . . . . . . . . . . . 1:156:0,72 . . . . 1:83:0,43 . 1:105:0,45 . . 1:146:0,53 . 1:129:0,64 . . . . 1/1:87:0,87 . . 1:121:0,62 . . . . . . . 6 26093236 14;rs1800758 G A 200.00 . #_unique_end_positions=,39;#_unique_start_positions=,36;AC=10;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1513;AF_ESP_clinvar_20171029_hg19=,0.1353;AF_EXAC_clinvar_20171029_hg19=,0.13432;AF_TGP_clinvar_20171029_hg19=,0.1314;ALLELEID_clinvar_20171029_hg19=,15053;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1354;AN=10;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.8686|0.1314;CLNDISDB_clinvar_20171029_hg19=,.;CLNDN_clinvar_20171029_hg19=,HFE_INTRONIC_POLYMORPHISM;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.26093236G>A;CLNREVSTAT_clinvar_20171029_hg19=,no_assertion_criteria_provided;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,OMIM_Allelic_Variant:613609.0004;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000410.3:c.892+48G>A|_NM_001300749.1:c.892+48G>A|_NM_139003.2:c.574+48G>A|_NM_139004.2:c.616+48G>A|_NM_139006.2:c.850+48G>A|_NM_139007.2:c.628+48G>A|_NM_139008.2:c.586+48G>A|_NM_139009.2:c.823+48G>A|_NM_139010.2:c.352+48G>A|_NM_139011.2:c.77-111G>A;Coding_region_change_in_longest_transcript=,NM_000410.3:c.892+48G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0665;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0994;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,54;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,HFE:3077;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:3077;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:4886;Homo_sapiens_refseq_GRCh37.p13_Genes=,HFE;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene13204;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001627|intron_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:613609;Non-synonymous=,-;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;QUAL=,200.0;RSPOS_dbsnp_common_v150_hg19_refseq=,26093236;RS_dbsnp_common_v150_hg19_refseq=,1800758;Read_count=,51;Read_coverage=,119;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.5923750769459957;Reverse_read_coverage=,65;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2014;SF=1,2,14,19,21,24,26,31,34;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.859915|0.140085;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05016808000515053f100100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0125;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0294118;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.225;db_xref=,GeneID:3077|HGNC:HGNC:4886|MIM:613609;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,hemochromatosis;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HFE;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HFE1|HH|HLA-H|MVCD7|TFQTL2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=HFE;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6p22.2;genomicSuperDups=.;esp6500siv2_all=0.1352;esp6500siv2_ea=0.1291;esp6500siv2_all=0.1352;esp6500siv2_ea=0.1291;1000g2015aug_all=0.13139;avsnp147=rs1800758;Kaviar_AF=0.129895;Kaviar_AC=20082;Kaviar_AN=154602;ExAC_ALL=0.1343;ExAC_AFR=0.1497;ExAC_AMR=0.1212;ExAC_EAS=0.0465;ExAC_FIN=0.0961;ExAC_NFE=0.1300;ExAC_OTH=0.1487;ExAC_SAS=0.2118;CLNALLELEID=15053;CLNDN=HFE_INTRONIC_POLYMORPHISM;CLNDISDB=.;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.2115;dpsi_zscore=0.745;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1323;gnomAD_exome_AFR=0.1508;gnomAD_exome_AMR=0.1181;gnomAD_exome_ASJ=0.2160;gnomAD_exome_EAS=0.0433;gnomAD_exome_FIN=0.1005;gnomAD_exome_NFE=0.1251;gnomAD_exome_OTH=0.1366;gnomAD_exome_SAS=0.2098;gnomAD_genome_ALL=0.1249;gnomAD_genome_AFR=0.1438;gnomAD_genome_AMR=0.1271;gnomAD_genome_ASJ=0.1933;gnomAD_genome_EAS=0.0493;gnomAD_genome_FIN=0.0971;gnomAD_genome_NFE=0.1261;gnomAD_genome_OTH=0.1407;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . 1:113:0,50 1:108:0,55 . . . . . . . . . . . 1:156:0,72 . . . . 1:83:0,43 . 1:105:0,45 . . 1:146:0,53 . 1:129:0,64 . . . . 1/1:87:0,87 . . 1:121:0,62 . . . . . . . 6 76542594 . A G 76.55 . #_unique_end_positions=,20;#_unique_start_positions=,16;AC=1;AN=1;Amino_acid_change=,NP_004990.3:p.Met143Val|_NP_001287828.1:p.Met143Val;Amino_acid_change_in_longest_transcript=,NP_004990.3:p.Met143Val;BaseQRankSum=,-0.23;Coding_region_change=,NM_001300899.1:c.427A>G|_NM_004999.3:c.427A>G;Coding_region_change_in_longest_transcript=,NM_004999.3:c.427A>G;Forward_read_coverage=,26;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:4646;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:4646;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:7605;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:7605;Homo_sapiens_refseq_GRCh37.p13_Genes=,MYO6;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001300899.1|NM_004999.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene14352;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna20678|rna20679;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:600970;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:600970;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene14352;QUAL=,76.554674579326;Read_count=,23;Read_coverage=,38;Read_direction_test_probability=,0.4179459232217556;Read_position_test_probability=,0.4241792955831709;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001300899.1|NM_004999.3;Reverse_read_coverage=,12;SF=7;conservation_score=,1.0;db_xref=,GeneID:4646|HGNC:HGNC:7605|MIM:600970;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001300899.1|Genbank:NM_004999.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,myosin_VI;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MYO6;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MYO6;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,DFNA22|DFNB37;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,myosin_VI|_transcript_variant_2|myosin_VI|_transcript_variant_1;transcript_id=,NM_001300899.1|NM_004999.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYO6;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYO6:NM_001300899:exon6:c.A427G:p.M143V,MYO6:NM_004999:exon6:c.A427G:p.M143V;cytoBand=6q14.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.859;SIFT_pred=T;Polyphen2_HDIV_score=0.971;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.631;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=-0.265;MutationAssessor_pred=N;FATHMM_score=-2.19;FATHMM_pred=D;PROVEAN_score=-1.65;PROVEAN_pred=N;VEST3_score=0.603;CADD_raw=1.434;CADD_phred=12.97;DANN_score=0.992;fathmm-MKL_coding_score=0.975;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.223;MetaSVM_pred=T;MetaLR_score=0.348;MetaLR_pred=T;integrated_fitCons_score=0.732;integrated_confidence_value=0;GERP++_RS=5.45;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.199;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=15.815;GDI_full_10282015=.;dpsi_max_tissue=-0.0605;dpsi_zscore=-0.311;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.062e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=8.957e-06;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . 1:32:0,20 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6 76564897 45133;rs61732664 T C 93.10 . #_unique_end_positions=,13;#_unique_start_positions=,11;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0008;AF_ESP_clinvar_20171029_hg19=,0.0019;AF_EXAC_clinvar_20171029_hg19=,0.01361;AF_TGP_clinvar_20171029_hg19=,0.0138;ALLELEID_clinvar_20171029_hg19=,54300;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0865;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001287828.1:p.Tyr374His|_NP_004990.3:p.Tyr374His;Amino_acid_change_in_longest_transcript=,NP_004990.3:p.Tyr374His;BaseQRankSum=,-0.36;CAF_dbsnp_common_v150_hg19_refseq=,0.9862|0.01378;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374|MedGen:CN239435|MedGen:CN239439;CLNDN_clinvar_20171029_hg19=,not_specified|Nonsyndromic_Hearing_Loss|_Dominant|Nonsyndromic_Hearing_Loss|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.76564897T>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:634582;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001300899.1:c.1120T>C|_NM_004999.3:c.1120T>C;Coding_region_change_in_longest_transcript=,NM_004999.3:c.1120T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0069;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,25;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,MYO6:4646;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:4646;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:4646;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:7605;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:7605;Homo_sapiens_refseq_GRCh37.p13_Genes=,MYO6;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001300899.1|NM_004999.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene14352;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna20678|rna20679;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:600970;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:600970;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene14352;QUAL=,93.09517238858666;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,76564897;RS_dbsnp_common_v150_hg19_refseq=,61732664;Read_count=,15;Read_coverage=,35;Read_direction_test_probability=,0.8714244996496365;Read_position_test_probability=,0.6742415624119001;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001300899.1|NM_004999.3;Reverse_read_coverage=,10;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;SF=25;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.993544|0.00645649;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050228000a05150536000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:4646|HGNC:HGNC:7605|MIM:600970;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001300899.1|Genbank:NM_004999.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,myosin_VI;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MYO6;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MYO6;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,DFNA22|DFNB37;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,myosin_VI|_transcript_variant_2|myosin_VI|_transcript_variant_1;transcript_id=,NM_001300899.1|NM_004999.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYO6;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYO6:NM_001300899:exon12:c.T1120C:p.Y374H,MYO6:NM_004999:exon12:c.T1120C:p.Y374H;cytoBand=6q14.1;genomicSuperDups=.;esp6500siv2_all=0.0019;esp6500siv2_ea=0.0007;esp6500siv2_all=0.0019;esp6500siv2_ea=0.0007;1000g2015aug_all=0.013778;avsnp147=rs61732664;Kaviar_AF=0.0121085;Kaviar_AC=1872;Kaviar_AN=154602;ExAC_ALL=0.0136;ExAC_AFR=0.0043;ExAC_AMR=0.1297;ExAC_EAS=0.0059;ExAC_FIN=0;ExAC_NFE=0.0002;ExAC_OTH=0.0080;ExAC_SAS=0.0001;CLNALLELEID=54300;CLNDN=not_specified|Nonsyndromic_Hearing_Loss,_Dominant|Nonsyndromic_Hearing_Loss,_Recessive;CLNDISDB=MedGen:CN169374|MedGen:CN239435|MedGen:CN239439;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.532;SIFT_pred=T;Polyphen2_HDIV_score=0.002;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.007;Polyphen2_HVAR_pred=B;LRT_score=0.031;LRT_pred=N;MutationTaster_score=0.998;MutationTaster_pred=N;MutationAssessor_score=0.085;MutationAssessor_pred=N;FATHMM_score=-2.19;FATHMM_pred=D;PROVEAN_score=-1.06;PROVEAN_pred=N;VEST3_score=0.107;CADD_raw=1.966;CADD_phred=16.00;DANN_score=0.945;fathmm-MKL_coding_score=0.602;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.964;MetaSVM_pred=T;MetaLR_score=0.179;MetaLR_pred=T;integrated_fitCons_score=0.744;integrated_confidence_value=0;GERP++_RS=4.04;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=1.061;phastCons7way_vertebrate=0.939;phastCons20way_mammalian=0.967;SiPhy_29way_logOdds=7.075;GDI_full_10282015=.;dpsi_max_tissue=-0.0357;dpsi_zscore=-0.196;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0171;gnomAD_exome_AFR=0.0033;gnomAD_exome_AMR=0.1185;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0.0057;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0001;gnomAD_exome_OTH=0.0152;gnomAD_exome_SAS=0.0001;gnomAD_genome_ALL=0.0037;gnomAD_genome_AFR=0.0024;gnomAD_genome_AMR=0.0957;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0.0043;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.669e-05;gnomAD_genome_OTH=0.0061;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . 1:31:0,13 . . . . . . . . . . . . . . . . 6 76564953 45134;rs2273857 A G 200.00 . #_unique_end_positions=,24;#_unique_start_positions=,20;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0015;AF_ESP_clinvar_20171029_hg19=,0.0098;AF_EXAC_clinvar_20171029_hg19=,0.01686;AF_TGP_clinvar_20171029_hg19=,0.0266;ALLELEID_clinvar_20171029_hg19=,54301;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0014;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.9734|0.02656;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374|MedGen:CN239435|MedGen:CN239439;CLNDN_clinvar_20171029_hg19=,not_specified|Nonsyndromic_Hearing_Loss|_Dominant|Nonsyndromic_Hearing_Loss|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.76564953A>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:103801;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001300899.1:c.1176A>G|_NM_004999.3:c.1176A>G;Coding_region_change_in_longest_transcript=,NM_004999.3:c.1176A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1071;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0169;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,31;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,MYO6:4646;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:4646;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:4646;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:7605;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:7605;Homo_sapiens_refseq_GRCh37.p13_Genes=,MYO6;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001300899.1|NM_004999.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene14352;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna20678|rna20679;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:600970;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:600970;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene14352;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,76564953;RS_dbsnp_common_v150_hg19_refseq=,2273857;Read_count=,32;Read_coverage=,64;Read_direction_test_probability=,0.9972586662971282;Read_position_test_probability=,0.9846831505343496;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001300899.1|NM_004999.3;Reverse_read_coverage=,33;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0051;SF=12;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.988667|0.0113332;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050328000305150537000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0166667;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.177778;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.102273;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.992;db_xref=,GeneID:4646|HGNC:HGNC:7605|MIM:600970;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001300899.1|Genbank:NM_004999.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,myosin_VI;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MYO6;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MYO6;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,DFNA22|DFNB37;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,myosin_VI|_transcript_variant_2|myosin_VI|_transcript_variant_1;transcript_id=,NM_001300899.1|NM_004999.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYO6;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYO6:NM_001300899:exon12:c.A1176G:p.T392T,MYO6:NM_004999:exon12:c.A1176G:p.T392T;cytoBand=6q14.1;genomicSuperDups=.;esp6500siv2_all=0.0098;esp6500siv2_ea=0.0130;esp6500siv2_all=0.0098;esp6500siv2_ea=0.0130;1000g2015aug_all=0.0265575;avsnp147=rs2273857;Kaviar_AF=0.0164552;Kaviar_AC=2544;Kaviar_AN=154602;ExAC_ALL=0.0169;ExAC_AFR=0.0030;ExAC_AMR=0.0026;ExAC_EAS=0.1044;ExAC_FIN=0.0104;ExAC_NFE=0.0138;ExAC_OTH=0.0158;ExAC_SAS=0.0044;CLNALLELEID=54301;CLNDN=not_specified|Nonsyndromic_Hearing_Loss,_Dominant|Nonsyndromic_Hearing_Loss,_Recessive;CLNDISDB=MedGen:CN169374|MedGen:CN239435|MedGen:CN239439;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0207;dpsi_zscore=0.140;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0160;gnomAD_exome_AFR=0.0027;gnomAD_exome_AMR=0.0030;gnomAD_exome_ASJ=0.0003;gnomAD_exome_EAS=0.1022;gnomAD_exome_FIN=0.0110;gnomAD_exome_NFE=0.0142;gnomAD_exome_OTH=0.0148;gnomAD_exome_SAS=0.0042;gnomAD_genome_ALL=0.0153;gnomAD_genome_AFR=0.0031;gnomAD_genome_AMR=0.0072;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0.1052;gnomAD_genome_FIN=0.0103;gnomAD_genome_NFE=0.0145;gnomAD_genome_OTH=0.0173;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . . . . 1:54:0,27 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6 76576290 45140;rs11756446 C T 117.90 . #_unique_end_positions=,15;#_unique_start_positions=,11;AC=3;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0023;AF_ESP_clinvar_20171029_hg19=,0.0435;AF_EXAC_clinvar_20171029_hg19=,0.05189;AF_TGP_clinvar_20171029_hg19=,0.0290;ALLELEID_clinvar_20171029_hg19=,54307;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0331;AN=3;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.971|0.02895;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374|MedGen:CN239435|MedGen:CN239439;CLNDN_clinvar_20171029_hg19=,not_specified|Nonsyndromic_Hearing_Loss|_Dominant|Nonsyndromic_Hearing_Loss|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.76576290C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,ARUP_Laboratories|_Molecular_Genetics_and_Genomics:53521|Illumina_Clinical_Services_Laboratory|Illumina:65759;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001300899.1:c.1722C>T|_NM_004999.3:c.1722C>T;Coding_region_change_in_longest_transcript=,NM_004999.3:c.1722C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0129;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0577;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,25;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,MYO6:4646;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:4646;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:4646;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:7605;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:7605;Homo_sapiens_refseq_GRCh37.p13_Genes=,MYO6;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001300899.1|NM_004999.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene14352;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna20678|rna20679;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:600970;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:600970;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene14352;QUAL=,94.94801169416127;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,76576290;RS_dbsnp_common_v150_hg19_refseq=,11756446;Read_count=,20;Read_coverage=,48;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.6732841920486425;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001300899.1|NM_004999.3;Reverse_read_coverage=,23;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0491;SF=34,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.94797|0.0520297;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05036800030515053e100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.751;db_xref=,GeneID:4646|HGNC:HGNC:7605|MIM:600970;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001300899.1|Genbank:NM_004999.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,myosin_VI;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MYO6;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MYO6;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,DFNA22|DFNB37;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,myosin_VI|_transcript_variant_2|myosin_VI|_transcript_variant_1;transcript_id=,NM_001300899.1|NM_004999.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYO6;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYO6:NM_001300899:exon17:c.C1722T:p.D574D,MYO6:NM_004999:exon17:c.C1722T:p.D574D;cytoBand=6q14.1;genomicSuperDups=.;esp6500siv2_all=0.0435;esp6500siv2_ea=0.0609;esp6500siv2_all=0.0435;esp6500siv2_ea=0.0609;1000g2015aug_all=0.0289537;avsnp147=rs11756446;Kaviar_AF=0.0509178;Kaviar_AC=7872;Kaviar_AN=154602;ExAC_ALL=0.0519;ExAC_AFR=0.0091;ExAC_AMR=0.0261;ExAC_EAS=0.0178;ExAC_FIN=0.0646;ExAC_NFE=0.0624;ExAC_OTH=0.0595;ExAC_SAS=0.0667;CLNALLELEID=54307;CLNDN=not_specified|Nonsyndromic_Hearing_Loss,_Dominant|Nonsyndromic_Hearing_Loss,_Recessive;CLNDISDB=MedGen:CN169374|MedGen:CN239435|MedGen:CN239439;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0786;dpsi_zscore=-0.380;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0513;gnomAD_exome_AFR=0.0093;gnomAD_exome_AMR=0.0247;gnomAD_exome_ASJ=0.0703;gnomAD_exome_EAS=0.0193;gnomAD_exome_FIN=0.0643;gnomAD_exome_NFE=0.0615;gnomAD_exome_OTH=0.0545;gnomAD_exome_SAS=0.0660;gnomAD_genome_ALL=0.0416;gnomAD_genome_AFR=0.0089;gnomAD_genome_AMR=0.0310;gnomAD_genome_ASJ=0.0497;gnomAD_genome_EAS=0.0136;gnomAD_genome_FIN=0.0650;gnomAD_genome_NFE=0.0583;gnomAD_genome_OTH=0.0450;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:39:0,15 . . . . . 1:47:0,21 1:43:0,17 6 76623854 . C T 156.54 . #_unique_end_positions=,22;#_unique_start_positions=,21;AC=1;AN=1;Amino_acid_change=,NP_001287828.1:p.Arg1149Cys|_NP_004990.3:p.Arg1172Cys;Amino_acid_change_in_longest_transcript=,NP_004990.3:p.Arg1172Cys;BaseQRankSum=,-0.11;Coding_region_change=,NM_001300899.1:c.3445C>T|_NM_004999.3:c.3514C>T;Coding_region_change_in_longest_transcript=,NM_004999.3:c.3514C>T;Forward_read_coverage=,57;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:4646;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:4646;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:7605;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:7605;Homo_sapiens_refseq_GRCh37.p13_Genes=,MYO6;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001300899.1|NM_004999.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene14352;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna20678|rna20679;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:600970;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:600970;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene14352;QUAL=,156.53559774527022;Read_count=,32;Read_coverage=,88;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9616332897124753;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001300899.1|NM_004999.3;Reverse_read_coverage=,31;SF=18;conservation_score=,1.0;db_xref=,GeneID:4646|HGNC:HGNC:7605|MIM:600970;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001300899.1|Genbank:NM_004999.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,myosin_VI;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MYO6;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MYO6;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,DFNA22|DFNB37;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,myosin_VI|_transcript_variant_2|myosin_VI|_transcript_variant_1;transcript_id=,NM_001300899.1|NM_004999.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYO6;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYO6:NM_001300899:exon32:c.C3445T:p.R1149C,MYO6:NM_004999:exon34:c.C3514T:p.R1172C;cytoBand=6q14.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs752568854;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;ExAC_ALL=3.295e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0.0002;ExAC_FIN=0;ExAC_NFE=2.997e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=1.0;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.495;MutationAssessor_pred=M;FATHMM_score=-2.84;FATHMM_pred=D;PROVEAN_score=-6.57;PROVEAN_pred=D;VEST3_score=0.605;CADD_raw=8.579;CADD_phred=35;DANN_score=0.999;fathmm-MKL_coding_score=0.984;fathmm-MKL_coding_pred=D;MetaSVM_score=0.891;MetaSVM_pred=D;MetaLR_score=0.877;MetaLR_pred=D;integrated_fitCons_score=0.706;integrated_confidence_value=0;GERP++_RS=5.96;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=20.393;GDI_full_10282015=.;dpsi_max_tissue=0.0372;dpsi_zscore=0.236;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=2.437e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0;gnomAD_exome_NFE=1.791e-05;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=0;gnomAD_genome_ALL=9.692e-05;gnomAD_genome_AFR=0.0003;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=10 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . 1:76:0,28 . . . . . . . . . . . . . . . . . . . . . . . 6 76624538 45159;rs41269323 G A 200.00 . #_unique_end_positions=,39;#_unique_start_positions=,35;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0091;AF_EXAC_clinvar_20171029_hg19=,0.00996;AF_TGP_clinvar_20171029_hg19=,0.0056;ALLELEID_clinvar_20171029_hg19=,54326;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0086;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001287828.1:p.Asp1200Asn|_NP_004990.3:p.Asp1223Asn;Amino_acid_change_in_longest_transcript=,NP_004990.3:p.Asp1223Asn;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.9944|0.005591;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374|MedGen:CN239435|MedGen:CN239439;CLNDN_clinvar_20171029_hg19=,not_specified|Nonsyndromic_Hearing_Loss|_Dominant|Nonsyndromic_Hearing_Loss|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.76624538G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:117948;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001300899.1:c.3598G>A|_NM_004999.3:c.3667G>A;Coding_region_change_in_longest_transcript=,NM_004999.3:c.3667G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0080;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,75;GENEINFO_dbsnp_common_v150_hg19_refseq=,MYO6:4646;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:4646;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:4646;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:7605;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:7605;Homo_sapiens_refseq_GRCh37.p13_Genes=,MYO6;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001300899.1|NM_004999.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene14352;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna20678|rna20679;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:600970;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:600970;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene14352;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,76624538;RS_dbsnp_common_v150_hg19_refseq=,41269323;Read_count=,58;Read_coverage=,95;Read_direction_test_probability=,0.9988555740377844;Read_position_test_probability=,0.9936422030310192;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001300899.1|NM_004999.3;Reverse_read_coverage=,20;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0143;SF=12;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.992101|0.00789889;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050168000a05040536100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:4646|HGNC:HGNC:7605|MIM:600970;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001300899.1|Genbank:NM_004999.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,myosin_VI;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MYO6;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MYO6;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,DFNA22|DFNB37;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,myosin_VI|_transcript_variant_2|myosin_VI|_transcript_variant_1;transcript_id=,NM_001300899.1|NM_004999.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYO6;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYO6:NM_001300899:exon33:c.G3598A:p.D1200N,MYO6:NM_004999:exon35:c.G3667A:p.D1223N;cytoBand=6q14.1;genomicSuperDups=.;esp6500siv2_all=0.0091;esp6500siv2_ea=0.0130;esp6500siv2_all=0.0091;esp6500siv2_ea=0.0130;1000g2015aug_all=0.00559105;avsnp147=rs41269323;Kaviar_AF=0.0094953;Kaviar_AC=1468;Kaviar_AN=154602;ExAC_ALL=0.0100;ExAC_AFR=0.0011;ExAC_AMR=0.0046;ExAC_EAS=0;ExAC_FIN=0.0126;ExAC_NFE=0.0140;ExAC_OTH=0.0121;ExAC_SAS=0.0071;CLNALLELEID=54326;CLNDN=not_specified|Nonsyndromic_Hearing_Loss,_Dominant|Nonsyndromic_Hearing_Loss,_Recessive;CLNDISDB=MedGen:CN169374|MedGen:CN239435|MedGen:CN239439;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.052;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.998;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.195;MutationAssessor_pred=M;FATHMM_score=-2.82;FATHMM_pred=D;PROVEAN_score=-4.45;PROVEAN_pred=D;VEST3_score=0.06;CADD_raw=7.271;CADD_phred=34;DANN_score=0.998;fathmm-MKL_coding_score=0.990;fathmm-MKL_coding_pred=D;MetaSVM_score=0.838;MetaSVM_pred=D;MetaLR_score=0.863;MetaLR_pred=D;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=6.07;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.997;phastCons20way_mammalian=0.947;SiPhy_29way_logOdds=20.644;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0106;gnomAD_exome_AFR=0.0012;gnomAD_exome_AMR=0.0064;gnomAD_exome_ASJ=0.0444;gnomAD_exome_EAS=5.798e-05;gnomAD_exome_FIN=0.0122;gnomAD_exome_NFE=0.0122;gnomAD_exome_OTH=0.0135;gnomAD_exome_SAS=0.0075;gnomAD_genome_ALL=0.0069;gnomAD_genome_AFR=0.0019;gnomAD_genome_AMR=0.0084;gnomAD_genome_ASJ=0.0364;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0106;gnomAD_genome_NFE=0.0090;gnomAD_genome_OTH=0.0061;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . . . . . 1:86:0,55 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6 112435912 44401;rs1050353 A T 94.56 . #_unique_end_positions=,16;#_unique_start_positions=,15;AC=28;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3419;AF_ESP_clinvar_20171029_hg19=,0.3049;AF_EXAC_clinvar_20171029_hg19=,0.26713;AF_TGP_clinvar_20171029_hg19=,0.2818;ALLELEID_clinvar_20171029_hg19=,53568;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2392;AN=28;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.7183|0.2817;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.112435912A>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001105206.2:c.5160T>A|_NM_001105207.2:c.5139T>A|_NM_002290.4:c.5139T>A;Coding_region_change_in_longest_transcript=,NM_001105206.2:c.5160T>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3571;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2634;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,15;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,LAMA4:3910;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:3910;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:3910;Genotype=,A/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:6484;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:6484;Homo_sapiens_refseq_GRCh37.p13_Genes=,LAMA4;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001105206.2|NM_001105207.2|NM_002290.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene14662;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21079|rna21080|rna21078;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:600133;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:600133;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_2_substitutions_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene14662;QUAL=,70.35706782645286;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,112435912;RS_dbsnp_common_v150_hg19_refseq=,1050353;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,20;Read_coverage=,32;Read_direction_test_probability=,0.972874682553454;Read_position_test_probability=,0.9733480313010384;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001105206.2|NM_001105207.2|NM_002290.4;Reverse_read_coverage=,17;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1718;SF=1,4,5,6,12,18,19,21,22,23,25,26,27,28,29,30,31,33,34,37,38,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05032800030517053f000101;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.245614;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.395349;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.277778;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.362069;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.051;db_xref=,GeneID:3910|HGNC:HGNC:6484|MIM:600133;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001105206.2|Genbank:NM_001105207.2|Genbank:NM_002290.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,laminin_subunit_alpha_4;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LAMA4;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,LAMA4;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1JJ|LAMA3|LAMA4*-1;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,laminin_subunit_alpha_4|_transcript_variant_1|laminin_subunit_alpha_4|_transcript_variant_3|laminin_subunit_alpha_4|_transcript_variant_2;transcript_id=,NM_001105206.2|NM_001105207.2|NM_002290.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMA4:NM_001105206:exon37:c.T5160A:p.V1720V,LAMA4:NM_001105207:exon37:c.T5139A:p.V1713V,LAMA4:NM_002290:exon37:c.T5139A:p.V1713V;cytoBand=6q21;genomicSuperDups=.;esp6500siv2_all=0.3049;esp6500siv2_ea=0.2894;esp6500siv2_all=0.3049;esp6500siv2_ea=0.2894;1000g2015aug_all=0.281749;avsnp147=rs1050353;Kaviar_AF=0.268043;Kaviar_AC=41440;Kaviar_AN=154602;ExAC_ALL=0.2671;ExAC_AFR=0.3355;ExAC_AMR=0.1910;ExAC_EAS=0.3343;ExAC_FIN=0.2310;ExAC_NFE=0.2904;ExAC_OTH=0.2379;ExAC_SAS=0.1641;CLNALLELEID=53568;CLNDN=Dilated_cardiomyopathy_1JJ|not_specified;CLNDISDB=MedGen:C3808935,OMIM:615235|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0817;dpsi_zscore=-0.390;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2632;gnomAD_exome_AFR=0.3383;gnomAD_exome_AMR=0.1944;gnomAD_exome_ASJ=0.3326;gnomAD_exome_EAS=0.3429;gnomAD_exome_FIN=0.2364;gnomAD_exome_NFE=0.2864;gnomAD_exome_OTH=0.2731;gnomAD_exome_SAS=0.1677;gnomAD_genome_ALL=0.2941;gnomAD_genome_AFR=0.3382;gnomAD_genome_AMR=0.2189;gnomAD_genome_ASJ=0.3245;gnomAD_genome_EAS=0.3498;gnomAD_genome_FIN=0.2246;gnomAD_genome_NFE=0.2846;gnomAD_genome_OTH=0.2587;Whole_Blood=.;Liver=Liver::0.284314::0.392248;ALLELE_END;COSO_score=-10 GT:DP:CLCAD2 . 1:29:0,18 . . 1:24:0,11 1:29:0,15 1:19:0,6 . . . . . 1:25:0,12 . . . . . 1:28:0,10 1/1:19:0,19 . 1:58:0,25 1:41:0,20 1:29:0,8 . 1:19:0,9 1:28:0,13 1/1:32:0,32 1:57:0,24 1:31:0,10 1:39:0,15 1:24:0,10 . 1:27:0,9 1:40:0,18 . . 1/1:30:0,30 1:15:0,6 . 1/1:32:0,32 1/1:30:0,30 6 112440464 44396;rs35679345 G A 200.00 . #_unique_end_positions=,33;#_unique_start_positions=,29;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2405;AF_ESP_clinvar_20171029_hg19=,0.0724;AF_EXAC_clinvar_20171029_hg19=,0.02059;AF_TGP_clinvar_20171029_hg19=,0.0667;ALLELEID_clinvar_20171029_hg19=,53563;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0187;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.2;CAF_dbsnp_common_v150_hg19_refseq=,0.9333|0.06669;CLNDISDB_clinvar_20171029_hg19=,MedGen:C3808935|OMIM:615235|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Dilated_cardiomyopathy_1JJ|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.112440464G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001105206.2:c.4716C>T|_NM_001105207.2:c.4695C>T|_NM_002290.4:c.4695C>T;Coding_region_change_in_longest_transcript=,NM_001105206.2:c.4716C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0030;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,35;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,LAMA4:3910;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:3910;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:3910;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:6484;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:6484;Homo_sapiens_refseq_GRCh37.p13_Genes=,LAMA4;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001105206.2|NM_001105207.2|NM_002290.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene14662;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21079|rna21080|rna21078;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:600133;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:600133;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_2_substitutions_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene14662;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,112440464;RS_dbsnp_common_v150_hg19_refseq=,35679345;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,44;Read_coverage=,97;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9400046335797598;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001105206.2|NM_001105207.2|NM_002290.4;Reverse_read_coverage=,62;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=17;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05032800030515053e000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.833;db_xref=,GeneID:3910|HGNC:HGNC:6484|MIM:600133;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001105206.2|Genbank:NM_001105207.2|Genbank:NM_002290.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,laminin_subunit_alpha_4;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LAMA4;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,LAMA4;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1JJ|LAMA3|LAMA4*-1;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,laminin_subunit_alpha_4|_transcript_variant_1|laminin_subunit_alpha_4|_transcript_variant_3|laminin_subunit_alpha_4|_transcript_variant_2;transcript_id=,NM_001105206.2|NM_001105207.2|NM_002290.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMA4:NM_001105206:exon34:c.C4716T:p.L1572L,LAMA4:NM_001105207:exon34:c.C4695T:p.L1565L,LAMA4:NM_002290:exon34:c.C4695T:p.L1565L;cytoBand=6q21;genomicSuperDups=.;esp6500siv2_all=0.0724;esp6500siv2_ea=0.0020;esp6500siv2_all=0.0724;esp6500siv2_ea=0.0020;1000g2015aug_all=0.0666933;avsnp147=rs35679345;Kaviar_AF=0.0197734;Kaviar_AC=3057;Kaviar_AN=154602;ExAC_ALL=0.0206;ExAC_AFR=0.2202;ExAC_AMR=0.0090;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0013;ExAC_OTH=0.0110;ExAC_SAS=0.0002;CLNALLELEID=53563;CLNDN=Dilated_cardiomyopathy_1JJ|not_specified;CLNDISDB=MedGen:C3808935,OMIM:615235|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.7139;dpsi_zscore=1.323;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0166;gnomAD_exome_AFR=0.2259;gnomAD_exome_AMR=0.0109;gnomAD_exome_ASJ=0.0080;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0011;gnomAD_exome_OTH=0.0104;gnomAD_exome_SAS=0.0004;gnomAD_genome_ALL=0.0638;gnomAD_genome_AFR=0.2222;gnomAD_genome_AMR=0.0203;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0007;gnomAD_genome_OTH=0.0102;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-10 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . 1:90:0,40 . . . . . . . . . . . . . . . . . . . . . . . . 6 112453970 227478 G A 74.74 . #_unique_end_positions=,14;#_unique_start_positions=,13;AC=1;AF_ESP_clinvar_20171029_hg19=,0.0004;AF_EXAC_clinvar_20171029_hg19=,0.00012;ALLELEID_clinvar_20171029_hg19=,231359;AN=1;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.41;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.112453970G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_single_submitter;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;Coding_region_change=,NM_001105206.2:c.3819C>T|_NM_001105207.2:c.3798C>T|_NM_002290.4:c.3798C>T;Coding_region_change_in_longest_transcript=,NM_001105206.2:c.3819C>T;Exact_match=,clinvar_20171029_hg19;Forward_read_coverage=,19;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:3910;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:3910;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:6484;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:6484;Homo_sapiens_refseq_GRCh37.p13_Genes=,LAMA4;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001105206.2|NM_001105207.2|NM_002290.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene14662;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21079|rna21080|rna21078;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:600133;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:600133;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_2_substitutions_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene14662;QUAL=,74.73552675351606;Read_count=,16;Read_coverage=,28;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9777415656323932;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001105206.2|NM_001105207.2|NM_002290.4;Reverse_read_coverage=,9;SF=16;conservation_score=,1.0;db_xref=,GeneID:3910|HGNC:HGNC:6484|MIM:600133;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001105206.2|Genbank:NM_001105207.2|Genbank:NM_002290.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,laminin_subunit_alpha_4;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LAMA4;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,LAMA4;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1JJ|LAMA3|LAMA4*-1;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,laminin_subunit_alpha_4|_transcript_variant_1|laminin_subunit_alpha_4|_transcript_variant_3|laminin_subunit_alpha_4|_transcript_variant_2;transcript_id=,NM_001105206.2|NM_001105207.2|NM_002290.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMA4:NM_001105206:exon28:c.C3819T:p.F1273F,LAMA4:NM_001105207:exon28:c.C3798T:p.F1266F,LAMA4:NM_002290:exon28:c.C3798T:p.F1266F;cytoBand=6q21;genomicSuperDups=.;esp6500siv2_all=0.0004;esp6500siv2_ea=0.0006;esp6500siv2_all=0.0004;esp6500siv2_ea=0.0006;1000g2015aug_all=.;avsnp147=rs138232283;Kaviar_AF=9.06e-05;Kaviar_AC=14;Kaviar_AN=154602;ExAC_ALL=0.0001;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0002;ExAC_OTH=0.0011;ExAC_SAS=6.088e-05;CLNALLELEID=231359;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-3.0887;dpsi_zscore=-2.175;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0001;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0002;gnomAD_exome_ASJ=0.0001;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0002;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=3.25e-05;gnomAD_genome_ALL=0.0001;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0001;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . 1:24:0,14 . . . . . . . . . . . . . . . . . . . . . . . . . 6 112454030 . G T 87.80 . #_unique_end_positions=,12;#_unique_start_positions=,11;AC=1;AN=1;Amino_acid_change=,NP_002281.3:p.Phe1246Leu|_NP_001098676.2:p.Phe1253Leu|_NP_001098677.2:p.Phe1246Leu;Amino_acid_change_in_longest_transcript=,NP_001098676.2:p.Phe1253Leu;BaseQRankSum=,-0.37;Coding_region_change=,NM_001105206.2:c.3759C>A|_NM_001105207.2:c.3738C>A|_NM_002290.4:c.3738C>A;Coding_region_change_in_longest_transcript=,NM_001105206.2:c.3759C>A;Forward_read_coverage=,15;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:3910;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:3910;Genotype=,G/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:6484;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:6484;Homo_sapiens_refseq_GRCh37.p13_Genes=,LAMA4;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001105206.2|NM_001105207.2|NM_002290.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene14662;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21079|rna21080|rna21078;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:600133;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:600133;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_2_substitutions_compared_to_this_genomic_sequence;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene14662;QUAL=,87.80077519674197;Read_count=,12;Read_coverage=,29;Read_direction_test_probability=,0.9490123879374459;Read_position_test_probability=,0.9454988969906382;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001105206.2|NM_001105207.2|NM_002290.4;Reverse_read_coverage=,14;SF=18;conservation_score=,0.999;db_xref=,GeneID:3910|HGNC:HGNC:6484|MIM:600133;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001105206.2|Genbank:NM_001105207.2|Genbank:NM_002290.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,laminin_subunit_alpha_4;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LAMA4;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,LAMA4;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1JJ|LAMA3|LAMA4*-1;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,laminin_subunit_alpha_4|_transcript_variant_1|laminin_subunit_alpha_4|_transcript_variant_3|laminin_subunit_alpha_4|_transcript_variant_2;transcript_id=,NM_001105206.2|NM_001105207.2|NM_002290.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA4:NM_001105206:exon28:c.C3759A:p.F1253L,LAMA4:NM_001105207:exon28:c.C3738A:p.F1246L,LAMA4:NM_002290:exon28:c.C3738A:p.F1246L;cytoBand=6q21;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.663;SIFT_pred=T;Polyphen2_HDIV_score=0.005;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.011;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.900;MutationTaster_pred=N;MutationAssessor_score=0.175;MutationAssessor_pred=N;FATHMM_score=1.06;FATHMM_pred=T;PROVEAN_score=-1.07;PROVEAN_pred=N;VEST3_score=0.164;CADD_raw=2.395;CADD_phred=18.79;DANN_score=0.974;fathmm-MKL_coding_score=0.888;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.992;MetaSVM_pred=T;MetaLR_score=0.018;MetaLR_pred=T;integrated_fitCons_score=0.672;integrated_confidence_value=0;GERP++_RS=3.23;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.127;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=0.999;SiPhy_29way_logOdds=9.708;GDI_full_10282015=.;dpsi_max_tissue=0.4487;dpsi_zscore=1.078;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . 1:27:0,12 . . . . . . . . . . . . . . . . . . . . . . . 6 112457383 44377;rs1050349 G C 90.07 . #_unique_end_positions=,18;#_unique_start_positions=,15;AC=26;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1233;AF_ESP_clinvar_20171029_hg19=,0.2221;AF_EXAC_clinvar_20171029_hg19=,0.22490;AF_TGP_clinvar_20171029_hg19=,0.2105;ALLELEID_clinvar_20171029_hg19=,53544;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2104;AN=26;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001098676.2:p.Pro1119Arg|_NP_001098677.2:p.Pro1112Arg|_NP_002281.3:p.Pro1112Arg;Amino_acid_change_in_longest_transcript=,NP_001098676.2:p.Pro1119Arg;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.7895|0.2105|.;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.112457383G>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001105206.2:c.3356C>G|_NM_001105207.2:c.3335C>G|_NM_002290.4:c.3335C>G;Coding_region_change_in_longest_transcript=,NM_001105206.2:c.3356C>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3601;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2316;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,22;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,LAMA4:3910;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:3910;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:3910;Genotype=,C/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:6484;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:6484;Homo_sapiens_refseq_GRCh37.p13_Genes=,LAMA4;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001105206.2|NM_001105207.2|NM_002290.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene14662;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21079|rna21080|rna21078;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:600133;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:600133;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_2_substitutions_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene14662;QUAL=,115.0628547461518;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,112457383;RS_dbsnp_common_v150_hg19_refseq=,1050349;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,25;Read_coverage=,42;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9892319641293368;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001105206.2|NM_001105207.2|NM_002290.4;Reverse_read_coverage=,20;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1524;SF=1,5,6,12,18,19,21,22,23,25,26,27,29,30,31,33,34,35,37,38,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128000a05150537000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.380952;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.302326;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.133333;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:3910|HGNC:HGNC:6484|MIM:600133;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001105206.2|Genbank:NM_001105207.2|Genbank:NM_002290.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,laminin_subunit_alpha_4;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LAMA4;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,LAMA4;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1JJ|LAMA3|LAMA4*-1;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,laminin_subunit_alpha_4|_transcript_variant_1|laminin_subunit_alpha_4|_transcript_variant_3|laminin_subunit_alpha_4|_transcript_variant_2;transcript_id=,NM_001105206.2|NM_001105207.2|NM_002290.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA4:NM_001105206:exon25:c.C3356G:p.P1119R,LAMA4:NM_001105207:exon25:c.C3335G:p.P1112R,LAMA4:NM_002290:exon25:c.C3335G:p.P1112R;cytoBand=6q21;genomicSuperDups=.;esp6500siv2_all=0.2221;esp6500siv2_ea=0.2603;esp6500siv2_all=0.2221;esp6500siv2_ea=0.2603;1000g2015aug_all=0.210463;avsnp147=rs1050349;Kaviar_AF=0.222753;Kaviar_AC=34438;Kaviar_AN=154602;ExAC_ALL=0.2249;ExAC_AFR=0.1431;ExAC_AMR=0.1689;ExAC_EAS=0.3447;ExAC_FIN=0.1708;ExAC_NFE=0.2560;ExAC_OTH=0.1954;ExAC_SAS=0.1510;CLNALLELEID=53544;CLNDN=Dilated_cardiomyopathy_1JJ|not_specified;CLNDISDB=MedGen:C3808935,OMIM:615235|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.227;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.994;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=1.65;MutationAssessor_pred=L;FATHMM_score=-1.32;FATHMM_pred=T;PROVEAN_score=-3.37;PROVEAN_pred=D;VEST3_score=0.777;CADD_raw=4.097;CADD_phred=23.7;DANN_score=0.998;fathmm-MKL_coding_score=0.995;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.080;MetaSVM_pred=T;MetaLR_score=0.567;MetaLR_pred=D;integrated_fitCons_score=0.672;integrated_confidence_value=0;GERP++_RS=5.93;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.996;phastCons20way_mammalian=0.949;SiPhy_29way_logOdds=20.337;GDI_full_10282015=.;dpsi_max_tissue=1.2779;dpsi_zscore=1.674;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2246;gnomAD_exome_AFR=0.1428;gnomAD_exome_AMR=0.1702;gnomAD_exome_ASJ=0.2868;gnomAD_exome_EAS=0.3503;gnomAD_exome_FIN=0.1744;gnomAD_exome_NFE=0.2561;gnomAD_exome_OTH=0.2354;gnomAD_exome_SAS=0.1543;gnomAD_genome_ALL=0.2140;gnomAD_genome_AFR=0.1437;gnomAD_genome_AMR=0.1842;gnomAD_genome_ASJ=0.2881;gnomAD_genome_EAS=0.3476;gnomAD_genome_FIN=0.1688;gnomAD_genome_NFE=0.2516;gnomAD_genome_OTH=0.2108;Whole_Blood=.;Liver=Liver::0.243421::0.375332;ALLELE_END;COSO_score=-10 GT:DP:CLCAD2 . 1:36:0,20 . . . 1:27:0,11 1:18:0,6 . . . . . 1:30:0,9 . . . . . 1:14:0,7 1/1:24:0,24 . 1:40:0,18 1:32:0,13 1:43:0,18 . 1:29:0,17 1:37:0,19 1/1:27:0,27 . 1:27:0,15 1:29:0,16 1:33:0,12 . 1:11:0,6 1:37:0,18 1:18:0,9 . 1/1:19:0,19 1:23:0,11 . 1:33:0,11 1/1:36:0,36 6 112457390 44376;rs2032567 C T 114.06 . #_unique_end_positions=,27;#_unique_start_positions=,24;AC=60;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.8805;ALLELEID_clinvar_20171029_hg19=,53543;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.8300;AN=60;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_002281.3:p.Gly1110Ser|_NP_001098677.2:p.Gly1110Ser|_NP_001098676.2:p.Gly1117Ser;Amino_acid_change_in_longest_transcript=,NP_001098676.2:p.Gly1117Ser;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.1601|0.8399;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.112457390C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001105206.2:c.3349G>A|_NM_001105207.2:c.3328G>A|_NM_002290.4:c.3328G>A;Coding_region_change_in_longest_transcript=,NM_001105206.2:c.3349G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.8730;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7087;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,9;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,LAMA4:3910;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:3910;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:3910;Genotype=,T/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:6484;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:6484;Homo_sapiens_refseq_GRCh37.p13_Genes=,LAMA4;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001105206.2|NM_001105207.2|NM_002290.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene14662;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21079|rna21080|rna21078;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:600133;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:600133;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_2_substitutions_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene14662;QUAL=,116.42137363038563;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,112457390;RS_dbsnp_common_v150_hg19_refseq=,2032567;Read_count=,31;Read_coverage=,31;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001105206.2|NM_001105207.2|NM_002290.4;Reverse_read_coverage=,22;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.8926;SF=0,1,2,3,4,5,6,8,9,10,11,12,13,16,17,18,19,20,21,22,23,24,25,26,27,29,30,31,33,34,35,36,37,38,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128000a0515053f000101;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.836735;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.668142;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.829268;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.829412;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.897727;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.883721;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.866279;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.844444;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.846939;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.814685;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.659091;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.920354;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.993;db_xref=,GeneID:3910|HGNC:HGNC:6484|MIM:600133;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001105206.2|Genbank:NM_001105207.2|Genbank:NM_002290.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,laminin_subunit_alpha_4;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LAMA4;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,LAMA4;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1JJ|LAMA3|LAMA4*-1;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,laminin_subunit_alpha_4|_transcript_variant_1|laminin_subunit_alpha_4|_transcript_variant_3|laminin_subunit_alpha_4|_transcript_variant_2;transcript_id=,NM_001105206.2|NM_001105207.2|NM_002290.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA4:NM_001105206:exon25:c.G3349A:p.G1117S,LAMA4:NM_001105207:exon25:c.G3328A:p.G1110S,LAMA4:NM_002290:exon25:c.G3328A:p.G1110S;cytoBand=6q21;genomicSuperDups=.;esp6500siv2_all=0.7513;esp6500siv2_ea=0.6965;esp6500siv2_all=0.7513;esp6500siv2_ea=0.6965;1000g2015aug_all=0.839856;avsnp147=rs2032567;Kaviar_AF=0.713031;Kaviar_AC=110236;Kaviar_AN=154602;ExAC_ALL=0.7691;ExAC_AFR=0.8662;ExAC_AMR=0.8828;ExAC_EAS=0.8558;ExAC_FIN=0.7327;ExAC_NFE=0.7033;ExAC_OTH=0.7848;ExAC_SAS=0.8631;CLNALLELEID=53543;CLNDN=Dilated_cardiomyopathy_1JJ|not_specified;CLNDISDB=MedGen:C3808935,OMIM:615235|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.052;LRT_pred=N;MutationTaster_score=0.999;MutationTaster_pred=P;MutationAssessor_score=0.205;MutationAssessor_pred=N;FATHMM_score=-1.16;FATHMM_pred=T;PROVEAN_score=1.43;PROVEAN_pred=N;VEST3_score=0.077;CADD_raw=2.280;CADD_phred=18.04;DANN_score=0.189;fathmm-MKL_coding_score=0.113;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.082;MetaSVM_pred=T;MetaLR_score=0.095;MetaLR_pred=T;integrated_fitCons_score=0.672;integrated_confidence_value=0;GERP++_RS=5.93;phyloP7way_vertebrate=0.084;phyloP20way_mammalian=0.154;phastCons7way_vertebrate=0.994;phastCons20way_mammalian=0.980;SiPhy_29way_logOdds=12.152;GDI_full_10282015=.;dpsi_max_tissue=-1.3751;dpsi_zscore=-1.662;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.7741;gnomAD_exome_AFR=0.8688;gnomAD_exome_AMR=0.8730;gnomAD_exome_ASJ=0.7642;gnomAD_exome_EAS=0.8540;gnomAD_exome_FIN=0.7449;gnomAD_exome_NFE=0.7023;gnomAD_exome_OTH=0.7502;gnomAD_exome_SAS=0.8626;gnomAD_genome_ALL=0.7744;gnomAD_genome_AFR=0.8652;gnomAD_genome_AMR=0.8723;gnomAD_genome_ASJ=0.7781;gnomAD_genome_EAS=0.8668;gnomAD_genome_FIN=0.7198;gnomAD_genome_NFE=0.7204;gnomAD_genome_OTH=0.7469;Whole_Blood=.;Liver=Liver::0.294118::0.392621;ALLELE_END;COSO_score=-10 GT:DP:CLCAD2 1/1:29:0,29 1/1:34:0,34 1/1:19:0,19 1:36:0,15 1:21:0,12 1/1:29:0,29 1:21:0,7 . 1/1:30:0,30 1:34:0,18 1:34:0,17 1:39:0,21 1/1:31:0,31 1/1:31:0,31 . . 1:31:0,14 1:38:0,20 1/1:13:0,13 1/1:24:0,24 1:53:0,21 1/1:41:0,41 1/1:30:0,30 1/1:40:0,40 1:32:0,17 1/1:27:0,27 1:38:0,20 1/1:27:0,27 . 1/1:25:0,25 1:29:0,15 1/1:31:0,31 . 1/1:11:0,11 1/1:37:0,37 1/1:19:0,19 1:28:0,16 1/1:20:0,20 1/1:21:0,21 1:42:0,21 1/1:33:0,33 1/1:35:0,35 6 112460365 44374;rs41289902 C T 200.00 . #_unique_end_positions=,44;#_unique_start_positions=,37;AC=3;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0008;AF_ESP_clinvar_20171029_hg19=,0.0094;AF_EXAC_clinvar_20171029_hg19=,0.00999;AF_TGP_clinvar_20171029_hg19=,0.0036;ALLELEID_clinvar_20171029_hg19=,53541;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0058;AN=3;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001098676.2:p.Arg1080Gln|_NP_002281.3:p.Arg1073Gln|_NP_001098677.2:p.Arg1073Gln;Amino_acid_change_in_longest_transcript=,NP_001098676.2:p.Arg1080Gln;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.9964|0.003594;CLNDISDB_clinvar_20171029_hg19=,MedGen:C3808935|OMIM:615235|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Dilated_cardiomyopathy_1JJ|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.112460365C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001105206.2:c.3239G>A|_NM_001105207.2:c.3218G>A|_NM_002290.4:c.3218G>A;Coding_region_change_in_longest_transcript=,NM_001105206.2:c.3239G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0109;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,59;GENEINFO_dbsnp_common_v150_hg19_refseq=,LAMA4:3910;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:3910;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:3910;Genotype=,T/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:6484;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:6484;Homo_sapiens_refseq_GRCh37.p13_Genes=,LAMA4;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001105206.2|NM_001105207.2|NM_002290.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene14662;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21079|rna21080|rna21078;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:600133;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:600133;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_2_substitutions_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene14662;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,112460365;RS_dbsnp_common_v150_hg19_refseq=,41289902;Read_count=,67;Read_coverage=,67;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001105206.2|NM_001105207.2|NM_002290.4;Reverse_read_coverage=,8;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0020;SF=19,41;SSR_dbsnp_common_v150_hg19_refseq=,0;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050028000a05040436000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:3910|HGNC:HGNC:6484|MIM:600133;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001105206.2|Genbank:NM_001105207.2|Genbank:NM_002290.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,laminin_subunit_alpha_4;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LAMA4;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,LAMA4;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1JJ|LAMA3|LAMA4*-1;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,laminin_subunit_alpha_4|_transcript_variant_1|laminin_subunit_alpha_4|_transcript_variant_3|laminin_subunit_alpha_4|_transcript_variant_2;transcript_id=,NM_001105206.2|NM_001105207.2|NM_002290.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA4:NM_001105206:exon24:c.G3239A:p.R1080Q,LAMA4:NM_001105207:exon24:c.G3218A:p.R1073Q,LAMA4:NM_002290:exon24:c.G3218A:p.R1073Q;cytoBand=6q21;genomicSuperDups=.;esp6500siv2_all=0.0094;esp6500siv2_ea=0.0130;esp6500siv2_all=0.0094;esp6500siv2_ea=0.0130;1000g2015aug_all=0.00359425;avsnp147=rs41289902;Kaviar_AF=0.0099158;Kaviar_AC=1533;Kaviar_AN=154602;ExAC_ALL=0.0100;ExAC_AFR=0.0020;ExAC_AMR=0.0061;ExAC_EAS=0.0001;ExAC_FIN=0.0224;ExAC_NFE=0.0138;ExAC_OTH=0.0099;ExAC_SAS=0.0027;CLNALLELEID=53541;CLNDN=Dilated_cardiomyopathy_1JJ|not_specified;CLNDISDB=MedGen:C3808935,OMIM:615235|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.998;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=1.335;MutationAssessor_pred=L;FATHMM_score=-1.78;FATHMM_pred=D;PROVEAN_score=-0.85;PROVEAN_pred=N;VEST3_score=0.843;CADD_raw=8.015;CADD_phred=35;DANN_score=1.000;fathmm-MKL_coding_score=0.952;fathmm-MKL_coding_pred=D;MetaSVM_score=0.129;MetaSVM_pred=D;MetaLR_score=0.611;MetaLR_pred=D;integrated_fitCons_score=0.672;integrated_confidence_value=0;GERP++_RS=5.98;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=20.443;GDI_full_10282015=.;dpsi_max_tissue=-0.0685;dpsi_zscore=-0.342;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0104;gnomAD_exome_AFR=0.0020;gnomAD_exome_AMR=0.0077;gnomAD_exome_ASJ=0.0069;gnomAD_exome_EAS=5.8e-05;gnomAD_exome_FIN=0.0243;gnomAD_exome_NFE=0.0139;gnomAD_exome_OTH=0.0097;gnomAD_exome_SAS=0.0022;gnomAD_genome_ALL=0.0102;gnomAD_genome_AFR=0.0015;gnomAD_genome_AMR=0.0072;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0243;gnomAD_genome_NFE=0.0135;gnomAD_genome_OTH=0.0102;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-4 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . 1/1:64:0,64 . . . . . . . . . . . . . . . . . . . . . 1:62:0,32 6 112463389 213587 G T 200.00 . #_unique_end_positions=,29;#_unique_start_positions=,24;AC=1;AF_EXAC_clinvar_20171029_hg19=,0.00005;ALLELEID_clinvar_20171029_hg19=,209882;AN=1;Amino_acid_change=,NP_001098676.2:p.Pro867Thr|_NP_002281.3:p.Pro860Thr|_NP_001098677.2:p.Pro860Thr;Amino_acid_change_in_longest_transcript=,NP_001098676.2:p.Pro867Thr;BaseQRankSum=,-0.42;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.112463389G>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_single_submitter;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;Coding_region_change=,NM_001105206.2:c.2599C>A|_NM_001105207.2:c.2578C>A|_NM_002290.4:c.2578C>A;Coding_region_change_in_longest_transcript=,NM_001105206.2:c.2599C>A;Exact_match=,clinvar_20171029_hg19;Forward_read_coverage=,39;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:3910;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:3910;Genotype=,G/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:6484;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:6484;Homo_sapiens_refseq_GRCh37.p13_Genes=,LAMA4;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001105206.2|NM_001105207.2|NM_002290.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene14662;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21079|rna21080|rna21078;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:600133;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:600133;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_2_substitutions_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene14662;QUAL=,200.0;Read_count=,51;Read_coverage=,102;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9345323123656677;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001105206.2|NM_001105207.2|NM_002290.4;Reverse_read_coverage=,63;SF=12;conservation_score=,1.0;db_xref=,GeneID:3910|HGNC:HGNC:6484|MIM:600133;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001105206.2|Genbank:NM_001105207.2|Genbank:NM_002290.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,laminin_subunit_alpha_4;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LAMA4;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,LAMA4;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1JJ|LAMA3|LAMA4*-1;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,laminin_subunit_alpha_4|_transcript_variant_1|laminin_subunit_alpha_4|_transcript_variant_3|laminin_subunit_alpha_4|_transcript_variant_2;transcript_id=,NM_001105206.2|NM_001105207.2|NM_002290.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA4:NM_001105206:exon20:c.C2599A:p.P867T,LAMA4:NM_001105207:exon20:c.C2578A:p.P860T,LAMA4:NM_002290:exon20:c.C2578A:p.P860T;cytoBand=6q21;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs782162498;Kaviar_AF=3.88e-05;Kaviar_AC=6;Kaviar_AN=154602;ExAC_ALL=4.943e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=8.991e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=209882;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.216;SIFT_pred=T;Polyphen2_HDIV_score=0.986;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.784;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.996;MutationTaster_pred=D;MutationAssessor_score=0.805;MutationAssessor_pred=L;FATHMM_score=2.85;FATHMM_pred=T;PROVEAN_score=-0.72;PROVEAN_pred=N;VEST3_score=0.563;CADD_raw=3.692;CADD_phred=23.3;DANN_score=0.994;fathmm-MKL_coding_score=0.955;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.007;MetaSVM_pred=T;MetaLR_score=0.024;MetaLR_pred=T;integrated_fitCons_score=0.672;integrated_confidence_value=0;GERP++_RS=6.16;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.967;phastCons20way_mammalian=0.936;SiPhy_29way_logOdds=20.860;GDI_full_10282015=.;dpsi_max_tissue=0.0095;dpsi_zscore=0.065;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=7.719e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=2.978e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0002;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=6.456e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0001;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:DP:CLCAD2 . . . . . . . . . . . . 1:89:0,41 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6 112476767 177973 A G 112.01 . #_unique_end_positions=,17;#_unique_start_positions=,15;AC=1;AF_ESP_clinvar_20171029_hg19=,0.0006;AF_EXAC_clinvar_20171029_hg19=,0.00103;ALLELEID_clinvar_20171029_hg19=,178203;AN=1;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.05;CLNDISDB_clinvar_20171029_hg19=,MedGen:C3808935|OMIM:615235|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Dilated_cardiomyopathy_1JJ|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.112476767A>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_conflicting_interpretations;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;Coding_region_change=,NM_001105206.2:c.1959T>C|_NM_001105207.2:c.1938T>C|_NM_002290.4:c.1938T>C;Coding_region_change_in_longest_transcript=,NM_001105206.2:c.1959T>C;Exact_match=,clinvar_20171029_hg19;Forward_read_coverage=,22;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:3910;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:3910;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:6484;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:6484;Homo_sapiens_refseq_GRCh37.p13_Genes=,LAMA4;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001105206.2|NM_001105207.2|NM_002290.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene14662;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21079|rna21080|rna21078;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:600133;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:600133;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_2_substitutions_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene14662;QUAL=,112.00807609562565;Read_count=,18;Read_coverage=,36;Read_direction_test_probability=,0.9912638738592432;Read_position_test_probability=,0.9636236772057144;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001105206.2|NM_001105207.2|NM_002290.4;Reverse_read_coverage=,14;SF=9;conservation_score=,0.987;db_xref=,GeneID:3910|HGNC:HGNC:6484|MIM:600133;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001105206.2|Genbank:NM_001105207.2|Genbank:NM_002290.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,laminin_subunit_alpha_4;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LAMA4;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,LAMA4;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1JJ|LAMA3|LAMA4*-1;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,laminin_subunit_alpha_4|_transcript_variant_1|laminin_subunit_alpha_4|_transcript_variant_3|laminin_subunit_alpha_4|_transcript_variant_2;transcript_id=,NM_001105206.2|NM_001105207.2|NM_002290.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMA4:NM_001105206:exon15:c.T1959C:p.D653D,LAMA4:NM_001105207:exon15:c.T1938C:p.D646D,LAMA4:NM_002290:exon15:c.T1938C:p.D646D;cytoBand=6q21;genomicSuperDups=.;esp6500siv2_all=0.0006;esp6500siv2_ea=0.0009;esp6500siv2_all=0.0006;esp6500siv2_ea=0.0009;1000g2015aug_all=.;avsnp147=rs143269044;Kaviar_AF=0.0009573;Kaviar_AC=148;Kaviar_AN=154602;ExAC_ALL=0.0010;ExAC_AFR=0.0003;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0.0005;ExAC_NFE=0.0014;ExAC_OTH=0.0022;ExAC_SAS=0.0014;CLNALLELEID=178203;CLNDN=Dilated_cardiomyopathy_1JJ|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C3808935,OMIM:615235|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0131;dpsi_zscore=-0.059;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0009;gnomAD_exome_AFR=0.0002;gnomAD_exome_AMR=8.934e-05;gnomAD_exome_ASJ=0.0007;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0004;gnomAD_exome_NFE=0.0014;gnomAD_exome_OTH=0.0007;gnomAD_exome_SAS=0.0015;gnomAD_genome_ALL=0.0011;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0011;gnomAD_genome_NFE=0.0020;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . . 1:33:0,18 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6 112480041 44351;rs3752577 A G 47.71 . #_unique_end_positions=,10;#_unique_start_positions=,8;AC=4;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0280;AF_ESP_clinvar_20171029_hg19=,0.0733;AF_EXAC_clinvar_20171029_hg19=,0.10441;AF_TGP_clinvar_20171029_hg19=,0.0913;ALLELEID_clinvar_20171029_hg19=,53518;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1225;AN=4;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.32;CAF_dbsnp_common_v150_hg19_refseq=,0.9087|0.09125;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.112480041A>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001105206.2:c.1710T>C|_NM_001105207.2:c.1689T>C|_NM_002290.4:c.1689T>C;Coding_region_change_in_longest_transcript=,NM_001105206.2:c.1710T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1300;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1034;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,15;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,LAMA4:3910;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:3910;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:3910;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:6484;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:6484;Homo_sapiens_refseq_GRCh37.p13_Genes=,LAMA4;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001105206.2|NM_001105207.2|NM_002290.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene14662;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21079|rna21080|rna21078;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:600133;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:600133;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_2_substitutions_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene14662;QUAL=,82.09085848417408;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,112480041;RS_dbsnp_common_v150_hg19_refseq=,3752577;Read_count=,10;Read_coverage=,21;Read_direction_test_probability=,0.9499680862250693;Read_position_test_probability=,0.7376305621035883;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001105206.2|NM_001105207.2|NM_002290.4;Reverse_read_coverage=,6;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1022;SF=8,11,21,35;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128000305150537000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.0416667;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0833333;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.0731707;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.123529;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.107955;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.1;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.255556;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.0444444;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.0918367;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.048951;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.0965909;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.00833333;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.936;db_xref=,GeneID:3910|HGNC:HGNC:6484|MIM:600133;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001105206.2|Genbank:NM_001105207.2|Genbank:NM_002290.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,laminin_subunit_alpha_4;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LAMA4;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,LAMA4;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1JJ|LAMA3|LAMA4*-1;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,laminin_subunit_alpha_4|_transcript_variant_1|laminin_subunit_alpha_4|_transcript_variant_3|laminin_subunit_alpha_4|_transcript_variant_2;transcript_id=,NM_001105206.2|NM_001105207.2|NM_002290.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMA4:NM_001105206:exon14:c.T1710C:p.S570S,LAMA4:NM_001105207:exon14:c.T1689C:p.S563S,LAMA4:NM_002290:exon14:c.T1689C:p.S563S;cytoBand=6q21;genomicSuperDups=.;esp6500siv2_all=0.0733;esp6500siv2_ea=0.0881;esp6500siv2_all=0.0733;esp6500siv2_ea=0.0881;1000g2015aug_all=0.091254;avsnp147=rs3752577;Kaviar_AF=0.100413;Kaviar_AC=15524;Kaviar_AN=154602;ExAC_ALL=0.1044;ExAC_AFR=0.0422;ExAC_AMR=0.1416;ExAC_EAS=0.0991;ExAC_FIN=0.1841;ExAC_NFE=0.0987;ExAC_OTH=0.1236;ExAC_SAS=0.1104;CLNALLELEID=53518;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.3958;dpsi_zscore=1.017;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1068;gnomAD_exome_AFR=0.0399;gnomAD_exome_AMR=0.1334;gnomAD_exome_ASJ=0.0732;gnomAD_exome_EAS=0.0977;gnomAD_exome_FIN=0.1849;gnomAD_exome_NFE=0.0964;gnomAD_exome_OTH=0.1024;gnomAD_exome_SAS=0.1088;gnomAD_genome_ALL=0.1078;gnomAD_genome_AFR=0.0395;gnomAD_genome_AMR=0.1079;gnomAD_genome_ASJ=0.0629;gnomAD_genome_EAS=0.0896;gnomAD_genome_FIN=0.1808;gnomAD_genome_NFE=0.1301;gnomAD_genome_OTH=0.1605;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . 1:21:0,10 . . 1:21:0,7 . . . . . . . . . 1:20:0,14 . . . . . . . . . . . . . 1:12:0,4 . . . . . . 6 112493872 44348;rs1050348 A G 185.45 . #_unique_end_positions=,23;#_unique_start_positions=,20;AC=56;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7799;ALLELEID_clinvar_20171029_hg19=,53515;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7205;AN=56;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_002281.3:p.Tyr491His|_NP_001098677.2:p.Tyr491His|_NP_001098676.2:p.Tyr498His;Amino_acid_change_in_longest_transcript=,NP_001098676.2:p.Tyr498His;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.2416|0.7584;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.112493872A>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001105206.2:c.1492T>C|_NM_001105207.2:c.1471T>C|_NM_002290.4:c.1471T>C;Coding_region_change_in_longest_transcript=,NM_001105206.2:c.1492T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.8135;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6501;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,28;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,LAMA4:3910;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:3910;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:3910;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:6484;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:6484;Homo_sapiens_refseq_GRCh37.p13_Genes=,LAMA4;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001105206.2|NM_001105207.2|NM_002290.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene14662;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21079|rna21080|rna21078;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:600133;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:600133;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_2_substitutions_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene14662;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,112493872;RS_dbsnp_common_v150_hg19_refseq=,1050348;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,34;Read_coverage=,73;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9257288841956293;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001105206.2|NM_001105207.2|NM_002290.4;Reverse_read_coverage=,45;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.8108;SF=2,3,4,5,6,7,8,9,10,11,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36,37,38,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128000a0517053f000101;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.765306;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.625;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.743902;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.804878;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.726744;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.8;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.8;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.797753;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.73;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.783333;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.164;db_xref=,GeneID:3910|HGNC:HGNC:6484|MIM:600133;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001105206.2|Genbank:NM_001105207.2|Genbank:NM_002290.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,laminin_subunit_alpha_4;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LAMA4;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,LAMA4;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1JJ|LAMA3|LAMA4*-1;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,laminin_subunit_alpha_4|_transcript_variant_1|laminin_subunit_alpha_4|_transcript_variant_3|laminin_subunit_alpha_4|_transcript_variant_2;transcript_id=,NM_001105206.2|NM_001105207.2|NM_002290.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA4:NM_001105206:exon12:c.T1492C:p.Y498H,LAMA4:NM_001105207:exon12:c.T1471C:p.Y491H,LAMA4:NM_002290:exon12:c.T1471C:p.Y491H;cytoBand=6q21;genomicSuperDups=.;esp6500siv2_all=0.6488;esp6500siv2_ea=0.6020;esp6500siv2_all=0.6488;esp6500siv2_ea=0.6020;1000g2015aug_all=0.758387;avsnp147=rs1050348;Kaviar_AF=0.657656;Kaviar_AC=101675;Kaviar_AN=154602;ExAC_ALL=0.6649;ExAC_AFR=0.7509;ExAC_AMR=0.7140;ExAC_EAS=0.8228;ExAC_FIN=0.5664;ExAC_NFE=0.6004;ExAC_OTH=0.6641;ExAC_SAS=0.7941;CLNALLELEID=53515;CLNDN=Dilated_cardiomyopathy_1JJ|not_specified;CLNDISDB=MedGen:C3808935,OMIM:615235|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.665;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.487;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.755;MutationAssessor_pred=N;FATHMM_score=2.95;FATHMM_pred=T;PROVEAN_score=1.23;PROVEAN_pred=N;VEST3_score=0.035;CADD_raw=-0.041;CADD_phred=2.212;DANN_score=0.117;fathmm-MKL_coding_score=0.036;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.899;MetaSVM_pred=T;MetaLR_score=0.004;MetaLR_pred=T;integrated_fitCons_score=0.646;integrated_confidence_value=0;GERP++_RS=4.63;phyloP7way_vertebrate=0.024;phyloP20way_mammalian=0.138;phastCons7way_vertebrate=0.974;phastCons20way_mammalian=0.782;SiPhy_29way_logOdds=4.881;GDI_full_10282015=.;dpsi_max_tissue=-1.0873;dpsi_zscore=-1.521;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.6640;gnomAD_exome_AFR=0.7565;gnomAD_exome_AMR=0.7151;gnomAD_exome_ASJ=0.6750;gnomAD_exome_EAS=0.8216;gnomAD_exome_FIN=0.5594;gnomAD_exome_NFE=0.5971;gnomAD_exome_OTH=0.6585;gnomAD_exome_SAS=0.7896;gnomAD_genome_ALL=0.6564;gnomAD_genome_AFR=0.7485;gnomAD_genome_AMR=0.7351;gnomAD_genome_ASJ=0.6656;gnomAD_genome_EAS=0.8418;gnomAD_genome_FIN=0.5572;gnomAD_genome_NFE=0.6020;gnomAD_genome_OTH=0.6472;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-10 GT:DP:CLCAD2 . . 1:66:0,29 1/1:75:0,75 1:75:0,42 1/1:66:0,66 1:62:0,32 1:72:0,39 1/1:77:0,77 1/1:73:0,72 1:67:0,38 1:60:0,29 . 1/1:79:0,79 1:125:0,58 1:75:0,44 1/1:77:0,77 1:72:0,28 1/1:61:0,61 1:61:0,37 1:70:0,41 1/1:82:0,82 1:56:0,22 1/1:88:0,88 1/1:89:0,89 1/1:53:0,53 1/1:73:0,73 1:69:0,32 1:90:0,38 1/1:97:0,97 1:78:0,34 1/1:58:0,58 1:90:0,45 1:38:0,18 1:88:0,36 1/1:69:0,69 1/1:91:0,91 1:65:0,33 1/1:54:0,54 . 1:80:0,45 1/1:70:0,70 6 112506496 rs147822567 G A 51.23 . #_unique_end_positions=,7;#_unique_start_positions=,8;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.999|0.0009984;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001105206.2:c.1020C>T|_NM_001105207.2:c.999C>T|_NM_002290.4:c.999C>T;Coding_region_change_in_longest_transcript=,NM_001105206.2:c.1020C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,10;GENEINFO_dbsnp_common_v150_hg19_refseq=,LAMA4:3910;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:3910;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:3910;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:6484;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:6484;Homo_sapiens_refseq_GRCh37.p13_Genes=,LAMA4;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001105206.2|NM_001105207.2|NM_002290.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene14662;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21079|rna21080|rna21078;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:600133;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:600133;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_2_substitutions_compared_to_this_genomic_sequence;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene14662;QUAL=,51.23258312738433;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,112506496;RS_dbsnp_common_v150_hg19_refseq=,147822567;Read_count=,9;Read_coverage=,16;Read_direction_test_probability=,0.9912514561433965;Read_position_test_probability=,0.8378268645448879;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001105206.2|NM_001105207.2|NM_002290.4;Reverse_read_coverage=,6;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0041;SF=32;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050000000305040036000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:3910|HGNC:HGNC:6484|MIM:600133;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001105206.2|Genbank:NM_001105207.2|Genbank:NM_002290.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,laminin_subunit_alpha_4;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LAMA4;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,LAMA4;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1JJ|LAMA3|LAMA4*-1;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,laminin_subunit_alpha_4|_transcript_variant_1|laminin_subunit_alpha_4|_transcript_variant_3|laminin_subunit_alpha_4|_transcript_variant_2;transcript_id=,NM_001105206.2|NM_001105207.2|NM_002290.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMA4:NM_001105206:exon9:c.C1020T:p.N340N,LAMA4:NM_001105207:exon9:c.C999T:p.N333N,LAMA4:NM_002290:exon9:c.C999T:p.N333N;cytoBand=6q21;genomicSuperDups=.;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0003;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0003;1000g2015aug_all=0.000998403;avsnp147=rs147822567;Kaviar_AF=0.0005045;Kaviar_AC=78;Kaviar_AN=154602;ExAC_ALL=0.0006;ExAC_AFR=9.614e-05;ExAC_AMR=8.637e-05;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0003;ExAC_OTH=0;ExAC_SAS=0.0030;CLNALLELEID=455298;CLNDN=Dilated_cardiomyopathy_1JJ|not_specified;CLNDISDB=MedGen:C3808935,OMIM:615235|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0981;dpsi_zscore=-0.443;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0006;gnomAD_exome_AFR=0.0001;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=5.798e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0002;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0.0036;gnomAD_genome_ALL=3.23e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.666e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-4 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:14:0,8 . . . . . . . . . 6 112508694 44413;rs143580603 A G 200.00 . #_unique_end_positions=,42;#_unique_start_positions=,36;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0025;AF_EXAC_clinvar_20171029_hg19=,0.00263;AF_TGP_clinvar_20171029_hg19=,0.0002;ALLELEID_clinvar_20171029_hg19=,53580;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AN=1;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.67;CLNDISDB_clinvar_20171029_hg19=,MedGen:C3808935|OMIM:615235|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Dilated_cardiomyopathy_1JJ|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.112508694A>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;Coding_region_change=,NM_001105206.2:c.924T>C|_NM_001105207.2:c.903T>C|_NM_002290.4:c.903T>C;Coding_region_change_in_longest_transcript=,NM_001105206.2:c.924T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;Exact_match=,clinvar_20171029_hg19|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,53;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:3910;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:3910;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:6484;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:6484;Homo_sapiens_refseq_GRCh37.p13_Genes=,LAMA4;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001105206.2|NM_001105207.2|NM_002290.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene14662;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21079|rna21080|rna21078;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:600133;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:600133;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_2_substitutions_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene14662;QUAL=,200.0;Read_count=,57;Read_coverage=,117;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9464685142054068;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001105206.2|NM_001105207.2|NM_002290.4;Reverse_read_coverage=,64;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=39;conservation_score=,0.729;db_xref=,GeneID:3910|HGNC:HGNC:6484|MIM:600133;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001105206.2|Genbank:NM_001105207.2|Genbank:NM_002290.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,laminin_subunit_alpha_4;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LAMA4;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,LAMA4;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1JJ|LAMA3|LAMA4*-1;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,laminin_subunit_alpha_4|_transcript_variant_1|laminin_subunit_alpha_4|_transcript_variant_3|laminin_subunit_alpha_4|_transcript_variant_2;transcript_id=,NM_001105206.2|NM_001105207.2|NM_002290.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMA4:NM_001105206:exon8:c.T924C:p.H308H,LAMA4:NM_001105207:exon8:c.T903C:p.H301H,LAMA4:NM_002290:exon8:c.T903C:p.H301H;cytoBand=6q21;genomicSuperDups=.;esp6500siv2_all=0.0025;esp6500siv2_ea=0.0036;esp6500siv2_all=0.0025;esp6500siv2_ea=0.0036;1000g2015aug_all=0.000199681;avsnp147=rs143580603;Kaviar_AF=0.0026132;Kaviar_AC=404;Kaviar_AN=154602;ExAC_ALL=0.0026;ExAC_AFR=0.0006;ExAC_AMR=0.0029;ExAC_EAS=0;ExAC_FIN=0.0009;ExAC_NFE=0.0038;ExAC_OTH=0.0022;ExAC_SAS=0.0012;CLNALLELEID=53580;CLNDN=Dilated_cardiomyopathy_1JJ|not_specified;CLNDISDB=MedGen:C3808935,OMIM:615235|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.2971;dpsi_zscore=0.887;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0025;gnomAD_exome_AFR=0.0007;gnomAD_exome_AMR=0.0026;gnomAD_exome_ASJ=0.0015;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0005;gnomAD_exome_NFE=0.0039;gnomAD_exome_OTH=0.0051;gnomAD_exome_SAS=0.0012;gnomAD_genome_ALL=0.0023;gnomAD_genome_AFR=0.0002;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0011;gnomAD_genome_NFE=0.0039;gnomAD_genome_OTH=0.0031;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-8 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:103:0,51 . . 6 112508769 138067;138068;177976;rs9387061;rs9400522 TG GT 200.00 . #_unique_end_positions=,62;#_unique_start_positions=,52;AC=84;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,1.0000|1.0000;ALLELEID_clinvar_20171029_hg19=,178204|141770|141771;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,1.0000|1.0000;AN=84;Amino_acid_change=,NP_002281.3:p.Ala276Asp|_NP_001098676.2:p.Ala283Asp|_NP_001098677.2:p.Ala276Asp;Amino_acid_change_in_longest_transcript=,NP_001098676.2:p.Ala283Asp;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374|MedGen:CN169374|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified|not_specified|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.112508769_112508770delinsGT|NC_000006.11:g.112508770G>T|NC_000006.11:g.112508769T>G;CLNREVSTAT_clinvar_20171029_hg19=,no_assertion_provided|criteria_provided|_multiple_submitters|_no_conflicts|criteria_provided|_single_submitter;CLNVCSO_clinvar_20171029_hg19=,SO:1000032|SO:0001483|SO:0001483;CLNVC_clinvar_20171029_hg19=,Indel|single_nucleotide_variant|single_nucleotide_variant;Coding_region_change=,NM_001105206.2:c.848_849delinsAC|_NM_001105207.2:c.827_828delinsAC|_NM_002290.4:c.827_828delinsAC;Coding_region_change_in_longest_transcript=,NM_001105206.2:c.848_849delinsAC;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,1.0000|1.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,1.0000|1.0000;Exact_match=,clinvar_20171029_hg19|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,30;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:3910;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:3910;Genotype=,GT/GT;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:6484;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:6484;Homo_sapiens_refseq_GRCh37.p13_Genes=,LAMA4;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001105206.2|NM_001105207.2|NM_002290.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene14662;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21079|rna21080|rna21078;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant|SO:0001819|synonymous_variant|SO:0001583|missense_variant|SO:0001819|synonymous_variant|SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:600133;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:600133;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_2_substitutions_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1|1|1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene14662;QUAL=,200.0;Read_count=,87;Read_coverage=,87;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001105206.2|NM_001105207.2|NM_002290.4;Reverse_read_coverage=,57;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,1.0000|1.0000;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41;conservation_score=,0.999;db_xref=,GeneID:3910|HGNC:HGNC:6484|MIM:600133;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001105206.2|Genbank:NM_001105207.2|Genbank:NM_002290.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,laminin_subunit_alpha_4;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LAMA4;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,LAMA4;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1JJ|LAMA3|LAMA4*-1;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,laminin_subunit_alpha_4|_transcript_variant_1|laminin_subunit_alpha_4|_transcript_variant_3|laminin_subunit_alpha_4|_transcript_variant_2;transcript_id=,NM_001105206.2|NM_001105207.2|NM_002290.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=nonframeshift_substitution;AAChange.refGene=LAMA4:NM_001105206:exon8:c.848_849AC,LAMA4:NM_001105207:exon8:c.827_828AC,LAMA4:NM_002290:exon8:c.827_828AC;cytoBand=6q21;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs71543223;Kaviar_AF=0.037354;Kaviar_AC=5775;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=178204;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=12 GT:DP:CLCAD2 1/1:76:0,76 1/1:83:0,83 1/1:74:0,74 1/1:60:0,60 1/1:56:0,56 1/1:80:0,80 1/1:62:0,62 1/1:61:0,61 1/1:96:0,96 1/1:82:0,82 1/1:105:0,105 1/1:76:0,76 1/1:96:0,96 1/1:83:0,83 1/1:103:0,103 1/1:85:0,85 1/1:114:0,114 1/1:78:0,78 1/1:61:0,61 1/1:80:0,80 1/1:74:0,74 1/1:95:0,95 1/1:118:0,118 1/1:98:0,98 1/1:92:0,91 1/1:60:0,60 1/1:71:0,71 1/1:142:0,142 1/1:84:0,84 1/1:98:0,98 1/1:109:0,109 1/1:62:0,62 1/1:83:0,83 1/1:86:0,86 1/1:106:0,106 1/1:91:0,91 1/1:64:0,64 1/1:71:0,71 1/1:80:0,80 1/1:80:0,80 1/1:103:0,103 1/1:75:0,75 6 112512905 44409;rs2072021 G A 167.49 . #_unique_end_positions=,26;#_unique_start_positions=,23;AC=9;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6067;AF_ESP_clinvar_20171029_hg19=,0.2575;AF_EXAC_clinvar_20171029_hg19=,0.19815;AF_TGP_clinvar_20171029_hg19=,0.3169;ALLELEID_clinvar_20171029_hg19=,53576;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1816;AN=9;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.19;CAF_dbsnp_common_v150_hg19_refseq=,0.6831|0.3169;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.112512905G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001105206.2:c.651C>T|_NM_001105207.2:c.651C>T|_NM_002290.4:c.651C>T;Coding_region_change_in_longest_transcript=,NM_001105206.2:c.651C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2619;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1352;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,53;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,LAMA4:3910;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:3910;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:3910;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:6484;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:6484;Homo_sapiens_refseq_GRCh37.p13_Genes=,LAMA4;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001105206.2|NM_001105207.2|NM_002290.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene14662;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21079|rna21080|rna21078;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:600133;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:600133;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_2_substitutions_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene14662;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,112512905;RS_dbsnp_common_v150_hg19_refseq=,2072021;Read_count=,40;Read_coverage=,72;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9975988459924318;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001105206.2|NM_001105207.2|NM_002290.4;Reverse_read_coverage=,19;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2648;SF=8,11,18,20,24,31,33,35;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05012800030517053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.141667;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.284091;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.363636;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.601695;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.023;db_xref=,GeneID:3910|HGNC:HGNC:6484|MIM:600133;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001105206.2|Genbank:NM_001105207.2|Genbank:NM_002290.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,laminin_subunit_alpha_4;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LAMA4;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,LAMA4;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1JJ|LAMA3|LAMA4*-1;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,laminin_subunit_alpha_4|_transcript_variant_1|laminin_subunit_alpha_4|_transcript_variant_3|laminin_subunit_alpha_4|_transcript_variant_2;transcript_id=,NM_001105206.2|NM_001105207.2|NM_002290.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMA4:NM_001105206:exon6:c.C651T:p.T217T,LAMA4:NM_001105207:exon6:c.C651T:p.T217T,LAMA4:NM_002290:exon6:c.C651T:p.T217T;cytoBand=6q21;genomicSuperDups=.;esp6500siv2_all=0.2575;esp6500siv2_ea=0.1219;esp6500siv2_all=0.2575;esp6500siv2_ea=0.1219;1000g2015aug_all=0.316893;avsnp147=rs2072021;Kaviar_AF=0.191201;Kaviar_AC=29560;Kaviar_AN=154602;ExAC_ALL=0.1982;ExAC_AFR=0.5467;ExAC_AMR=0.1334;ExAC_EAS=0.2833;ExAC_FIN=0.1913;ExAC_NFE=0.1338;ExAC_OTH=0.1932;ExAC_SAS=0.2423;CLNALLELEID=53576;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.8966;dpsi_zscore=-1.866;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1884;gnomAD_exome_AFR=0.5570;gnomAD_exome_AMR=0.1324;gnomAD_exome_ASJ=0.1588;gnomAD_exome_EAS=0.2780;gnomAD_exome_FIN=0.1899;gnomAD_exome_NFE=0.1299;gnomAD_exome_OTH=0.1634;gnomAD_exome_SAS=0.2408;gnomAD_genome_ALL=0.2747;gnomAD_genome_AFR=0.5431;gnomAD_genome_AMR=0.1396;gnomAD_genome_ASJ=0.1424;gnomAD_genome_EAS=0.2749;gnomAD_genome_FIN=0.1920;gnomAD_genome_NFE=0.1536;gnomAD_genome_OTH=0.1933;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . 1:67:0,36 . . 1:67:0,33 . . . . . . 1:63:0,29 . 1:74:0,21 . . . 1:79:0,40 . . . . . . 1:45:0,28 . 1:54:0,29 . 1/1:57:0,57 . . . . . . 6 112522852 44392;rs11757455 G A 59.19 . #_unique_end_positions=,9;#_unique_start_positions=,9;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0015;AF_ESP_clinvar_20171029_hg19=,0.0470;AF_EXAC_clinvar_20171029_hg19=,0.05308;AF_TGP_clinvar_20171029_hg19=,0.0310;ALLELEID_clinvar_20171029_hg19=,53559;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0303;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_002281.3:p.Arg154Trp|_NP_001098677.2:p.Arg154Trp|_NP_001098676.2:p.Arg154Trp;Amino_acid_change_in_longest_transcript=,NP_001098676.2:p.Arg154Trp;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.969|0.03095;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.112522852G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001105206.2:c.460C>T|_NM_001105207.2:c.460C>T|_NM_002290.4:c.460C>T;Coding_region_change_in_longest_transcript=,NM_001105206.2:c.460C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0596;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,15;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,LAMA4:3910;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:3910;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:3910;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:6484;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:6484;Homo_sapiens_refseq_GRCh37.p13_Genes=,LAMA4;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001105206.2|NM_001105207.2|NM_002290.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene14662;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21079|rna21080|rna21078;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:600133;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:600133;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_2_substitutions_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene14662;QUAL=,59.19161458175837;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,112522852;RS_dbsnp_common_v150_hg19_refseq=,11757455;Read_count=,12;Read_coverage=,36;Read_direction_test_probability=,0.9653755375736726;Read_position_test_probability=,0.9667414755422493;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001105206.2|NM_001105207.2|NM_002290.4;Reverse_read_coverage=,21;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0736;SF=16;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128000a05150537000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.0204082;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0318182;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.0568182;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.00561798;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.0104167;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.0034965;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.0872093;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:3910|HGNC:HGNC:6484|MIM:600133;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001105206.2|Genbank:NM_001105207.2|Genbank:NM_002290.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,laminin_subunit_alpha_4;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LAMA4;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,LAMA4;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1JJ|LAMA3|LAMA4*-1;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,laminin_subunit_alpha_4|_transcript_variant_1|laminin_subunit_alpha_4|_transcript_variant_3|laminin_subunit_alpha_4|_transcript_variant_2;transcript_id=,NM_001105206.2|NM_001105207.2|NM_002290.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA4:NM_001105206:exon5:c.C460T:p.R154W,LAMA4:NM_001105207:exon5:c.C460T:p.R154W,LAMA4:NM_002290:exon5:c.C460T:p.R154W;cytoBand=6q21;genomicSuperDups=.;esp6500siv2_all=0.0470;esp6500siv2_ea=0.0649;esp6500siv2_all=0.0470;esp6500siv2_ea=0.0649;1000g2015aug_all=0.0309505;avsnp147=rs11757455;Kaviar_AF=0.0517975;Kaviar_AC=8008;Kaviar_AN=154602;ExAC_ALL=0.0531;ExAC_AFR=0.0113;ExAC_AMR=0.0274;ExAC_EAS=0.0001;ExAC_FIN=0.0373;ExAC_NFE=0.0609;ExAC_OTH=0.0617;ExAC_SAS=0.0993;CLNALLELEID=53559;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.031;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.974;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.902;MutationTaster_pred=D;MutationAssessor_score=2.395;MutationAssessor_pred=M;FATHMM_score=-0.06;FATHMM_pred=T;PROVEAN_score=-4.62;PROVEAN_pred=D;VEST3_score=0.739;CADD_raw=7.272;CADD_phred=34;DANN_score=0.999;fathmm-MKL_coding_score=0.898;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.225;MetaSVM_pred=T;MetaLR_score=0.348;MetaLR_pred=T;integrated_fitCons_score=0.722;integrated_confidence_value=0;GERP++_RS=4.2;phyloP7way_vertebrate=-0.045;phyloP20way_mammalian=0.127;phastCons7way_vertebrate=0.990;phastCons20way_mammalian=0.998;SiPhy_29way_logOdds=14.056;GDI_full_10282015=.;dpsi_max_tissue=-1.9339;dpsi_zscore=-1.879;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0526;gnomAD_exome_AFR=0.0098;gnomAD_exome_AMR=0.0270;gnomAD_exome_ASJ=0.0397;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0.0400;gnomAD_exome_NFE=0.0648;gnomAD_exome_OTH=0.0509;gnomAD_exome_SAS=0.1005;gnomAD_genome_ALL=0.0417;gnomAD_genome_AFR=0.0135;gnomAD_genome_AMR=0.0358;gnomAD_genome_ASJ=0.0331;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0418;gnomAD_genome_NFE=0.0627;gnomAD_genome_OTH=0.0458;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . 1:29:0,10 . . . . . . . . . . . . . . . . . . . . . . . . . 6 112575014 163798;rs147118520 A G 200.00 . #_unique_end_positions=,47;#_unique_start_positions=,43;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0108;AF_EXAC_clinvar_20171029_hg19=,0.01338;AF_TGP_clinvar_20171029_hg19=,0.0060;ALLELEID_clinvar_20171029_hg19=,176858;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0058;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.3;CAF_dbsnp_common_v150_hg19_refseq=,0.994|0.00599;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.112575014A>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001105206.2:c.195+144T>C|_NM_001105207.2:c.195+144T>C|_NM_001105208.2:c.339T>C|_NM_001105209.2:c.339T>C|_NM_002290.4:c.195+144T>C;Coding_region_change_in_longest_transcript=,NM_001105206.2:c.195+144T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0229;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,115;GENEINFO_dbsnp_common_v150_hg19_refseq=,LAMA4:3910|LOC101927640:101927640;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:3910|GeneID:101927640;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:3910;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:6484;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:6484;Homo_sapiens_refseq_GRCh37.p13_Genes=,LAMA4|LOC101927640;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001105209.2|NM_001105208.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene14662|gene14664;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21082|rna21081;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001627|intron_variant|SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:600133;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:600133;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene14662;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,112575014;RS_dbsnp_common_v150_hg19_refseq=,147118520;Read_count=,86;Read_coverage=,165;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.8490924863248274;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001105209.2|NM_001105208.2;Reverse_read_coverage=,50;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0031;SF=8;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050028080305040436000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.433;db_xref=,GeneID:3910|HGNC:HGNC:6484|MIM:600133|GeneID:101927640;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001105209.2|Genbank:NM_001105208.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,laminin_subunit_alpha_4|uncharacterized_LOC101927640;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LAMA4|LOC101927640;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,LAMA4;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding|lncRNA;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1JJ|LAMA3|LAMA4*-1;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,laminin_subunit_alpha_4|_transcript_variant_5|laminin_subunit_alpha_4|_transcript_variant_4;transcript_id=,NM_001105209.2|NM_001105208.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMA4:NM_001105208:exon2:c.T339C:p.L113L,LAMA4:NM_001105209:exon2:c.T339C:p.L113L;cytoBand=6q21;genomicSuperDups=.;esp6500siv2_all=0.0108;esp6500siv2_ea=0.0143;esp6500siv2_all=0.0108;esp6500siv2_ea=0.0143;1000g2015aug_all=0.00599042;avsnp147=rs147118520;Kaviar_AF=0.0126712;Kaviar_AC=1959;Kaviar_AN=154602;ExAC_ALL=0.0134;ExAC_AFR=0.0022;ExAC_AMR=0.0022;ExAC_EAS=0;ExAC_FIN=0.0568;ExAC_NFE=0.0166;ExAC_OTH=0.0178;ExAC_SAS=0.0042;CLNALLELEID=176858;CLNDN=Dilated_cardiomyopathy_1JJ|not_specified;CLNDISDB=MedGen:C3808935,OMIM:615235|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.5582;dpsi_zscore=1.190;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0138;gnomAD_exome_AFR=0.0022;gnomAD_exome_AMR=0.0023;gnomAD_exome_ASJ=0.0029;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0575;gnomAD_exome_NFE=0.0158;gnomAD_exome_OTH=0.0150;gnomAD_exome_SAS=0.0041;gnomAD_genome_ALL=0.0190;gnomAD_genome_AFR=0.0024;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0552;gnomAD_genome_NFE=0.0229;gnomAD_genome_OTH=0.0285;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-10 GT:DP:CLCAD2 . . . . . . . . 1:152:0,81 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6 121768710 137482;rs57946868 G A 168.50 . #_unique_end_positions=,32;#_unique_start_positions=,25;AC=2;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0923;AF_ESP_clinvar_20171029_hg19=,0.0349;AF_EXAC_clinvar_20171029_hg19=,0.01988;AF_TGP_clinvar_20171029_hg19=,0.0344;ALLELEID_clinvar_20171029_hg19=,141185;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0130;AN=2;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.05;CAF_dbsnp_common_v150_hg19_refseq=,0.9657|0.03435|.;CLNDISDB_clinvar_20171029_hg19=,MedGen:C0039075|Orphanet:ORPHA90025|MedGen:C0812437|OMIM:164200|MedGen:C2749477|OMIM:257850|MedGen:CN031062|OMIM:241550|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Syndactyly|Oculodentodigital_dysplasia|Oculodentodigital_dysplasia|_autosomal_recessive|Hypoplastic_left_heart_syndrome_1|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.121768710G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:133114;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000165.4:c.717G>A;Coding_region_change_in_longest_transcript=,NM_000165.4:c.717G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0030;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0129;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,41;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,GJA1:2697;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:2697;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:2697;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:4274;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:4274;Homo_sapiens_refseq_GRCh37.p13_Genes=,GJA1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_000165.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene14751;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21168;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:121014;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:121014;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene14751;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,121768710;RS_dbsnp_common_v150_hg19_refseq=,57946868;Read_count=,37;Read_coverage=,86;Read_direction_test_probability=,0.9719472312646013;Read_position_test_probability=,0.9774772616768564;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_000165.4;Reverse_read_coverage=,45;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0256;SF=2,9;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.955972|0.0439247|0.000103029;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050168000305150536100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.174;db_xref=,GeneID:2697|HGNC:HGNC:4274|MIM:121014;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:00414;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_000165.4|HPRD:00414;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gap_junction_protein_alpha_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GJA1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GJA1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,AVSD3|CMDR|CX43|EKVP|GJAL|HLHS1|HSS|ODDD|PPKCA;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gap_junction_protein_alpha_1;transcript_id=,NM_000165.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GJA1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GJA1:NM_000165:exon2:c.G717A:p.R239R;cytoBand=6q22.31;genomicSuperDups=Score\x3d0.967911\x3bName\x3dchr5:108385297;esp6500siv2_all=0.0349;esp6500siv2_ea=0.0148;esp6500siv2_all=0.0349;esp6500siv2_ea=0.0148;1000g2015aug_all=0.034345;avsnp147=rs57946868;Kaviar_AF=0.0190166;Kaviar_AC=2940;Kaviar_AN=154602;ExAC_ALL=0.0199;ExAC_AFR=0.0849;ExAC_AMR=0.0091;ExAC_EAS=0.0020;ExAC_FIN=0.0035;ExAC_NFE=0.0126;ExAC_OTH=0.0121;ExAC_SAS=0.0324;CLNALLELEID=141185;CLNDN=Syndactyly|Oculodentodigital_dysplasia|Oculodentodigital_dysplasia,_autosomal_recessive|Hypoplastic_left_heart_syndrome_1|not_specified;CLNDISDB=MedGen:C0039075,Orphanet:ORPHA90025|MedGen:C0812437,OMIM:164200|MedGen:C2749477,OMIM:257850|MedGen:CN031062,OMIM:241550|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0174;gnomAD_exome_AFR=0.0846;gnomAD_exome_AMR=0.0091;gnomAD_exome_ASJ=0.0096;gnomAD_exome_EAS=0.0019;gnomAD_exome_FIN=0.0038;gnomAD_exome_NFE=0.0124;gnomAD_exome_OTH=0.0142;gnomAD_exome_SAS=0.0324;gnomAD_genome_ALL=0.0303;gnomAD_genome_AFR=0.0776;gnomAD_genome_AMR=0.0048;gnomAD_genome_ASJ=0.0099;gnomAD_genome_EAS=0.0018;gnomAD_genome_FIN=0.0026;gnomAD_genome_NFE=0.0153;gnomAD_genome_OTH=0.0122;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . 1:84:0,36 . . . . . . 1:102:0,32 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6 121768751 137483;rs17653265 C T 200.00 . #_unique_end_positions=,49;#_unique_start_positions=,39;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0008;AF_ESP_clinvar_20171029_hg19=,0.0112;AF_EXAC_clinvar_20171029_hg19=,0.00784;AF_TGP_clinvar_20171029_hg19=,0.0030;ALLELEID_clinvar_20171029_hg19=,141186;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0072;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_000156.1:p.Ala253Val;Amino_acid_change_in_longest_transcript=,NP_000156.1:p.Ala253Val;BaseQRankSum=,-0.18;CAF_dbsnp_common_v150_hg19_refseq=,0.997|0.002995;CLNDISDB_clinvar_20171029_hg19=,MedGen:C0812437|OMIM:164200|MedGen:C2749477|OMIM:257850|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Oculodentodigital_dysplasia|Oculodentodigital_dysplasia|_autosomal_recessive|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.121768751C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:98901|UniProtKB_(protein):P17302#VAR_015764;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000165.4:c.758C>T;Coding_region_change_in_longest_transcript=,NM_000165.4:c.758C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0089;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,79;GENEINFO_dbsnp_common_v150_hg19_refseq=,GJA1:2697;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:2697;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:2697;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:4274;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:4274;Homo_sapiens_refseq_GRCh37.p13_Genes=,GJA1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_000165.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene14751;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21168;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:121014;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:121014;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene14751;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,121768751;RS_dbsnp_common_v150_hg19_refseq=,17653265;Read_count=,65;Read_coverage=,114;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.7843072594389147;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_000165.4;Reverse_read_coverage=,35;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=30;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.989834|0.0101655;TPA_dbsnp_common_v150_hg19_refseq=,TPA;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050178000a05040536100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.022;db_xref=,GeneID:2697|HGNC:HGNC:4274|MIM:121014;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:00414;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_000165.4|HPRD:00414;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gap_junction_protein_alpha_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GJA1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GJA1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,AVSD3|CMDR|CX43|EKVP|GJAL|HLHS1|HSS|ODDD|PPKCA;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gap_junction_protein_alpha_1;transcript_id=,NM_000165.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GJA1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=GJA1:NM_000165:exon2:c.C758T:p.A253V;cytoBand=6q22.31;genomicSuperDups=Score\x3d0.967911\x3bName\x3dchr5:108385297;esp6500siv2_all=0.0112;esp6500siv2_ea=0.0160;esp6500siv2_all=0.0112;esp6500siv2_ea=0.0160;1000g2015aug_all=0.00299521;avsnp147=rs17653265;Kaviar_AF=0.0085186;Kaviar_AC=1317;Kaviar_AN=154602;ExAC_ALL=0.0078;ExAC_AFR=0.0016;ExAC_AMR=0.0069;ExAC_EAS=0.0001;ExAC_FIN=0.0023;ExAC_NFE=0.0123;ExAC_OTH=0.0033;ExAC_SAS=0.0011;CLNALLELEID=141186;CLNDN=Oculodentodigital_dysplasia|Oculodentodigital_dysplasia,_autosomal_recessive|not_specified;CLNDISDB=MedGen:C0812437,OMIM:164200|MedGen:C2749477,OMIM:257850|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.175;SIFT_pred=T;Polyphen2_HDIV_score=0.008;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_pred=B;LRT_score=0.275;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=-4.29;FATHMM_pred=D;PROVEAN_score=-0.82;PROVEAN_pred=N;VEST3_score=0.05;CADD_raw=0.820;CADD_phred=9.586;DANN_score=0.978;fathmm-MKL_coding_score=0.794;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.209;MetaSVM_pred=T;MetaLR_score=0.562;MetaLR_pred=D;integrated_fitCons_score=0.672;integrated_confidence_value=0;GERP++_RS=3.89;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.890;phastCons7way_vertebrate=0.760;phastCons20way_mammalian=0.017;SiPhy_29way_logOdds=10.136;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM061785#"Attenuated_phenotype_in_glaucoma";gnomAD_exome_ALL=0.0081;gnomAD_exome_AFR=0.0018;gnomAD_exome_AMR=0.0078;gnomAD_exome_ASJ=0.0025;gnomAD_exome_EAS=5.798e-05;gnomAD_exome_FIN=0.0022;gnomAD_exome_NFE=0.0138;gnomAD_exome_OTH=0.0100;gnomAD_exome_SAS=0.0011;gnomAD_genome_ALL=0.0075;gnomAD_genome_AFR=0.0030;gnomAD_genome_AMR=0.0107;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0029;gnomAD_genome_NFE=0.0119;gnomAD_genome_OTH=0.0061;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:113:0,65 . . . . . . . . . . . 6 123673628 rs17736964 C T 172.13 . #_unique_end_positions=,16;#_unique_start_positions=,17;AC=4;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0023;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0115;AN=4;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.52;CAF_dbsnp_common_v150_hg19_refseq=,0.991|0.008986;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001251987.1:c.*42G>A|_NM_006073.3:c.1369+56G>A;Coding_region_change_in_longest_transcript=,NM_006073.3:c.1369+56G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0328;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,29;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TRDN:10345;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:10345;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:10345;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12261;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12261;Homo_sapiens_refseq_GRCh37.p13_Genes=,TRDN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001251987.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene14769;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21187;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:603283;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:603283;Non-synonymous=,-;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene14769;QUAL=,116.39375377025743;RSPOS_dbsnp_common_v150_hg19_refseq=,123673628;RS_dbsnp_common_v150_hg19_refseq=,17736964;Read_count=,19;Read_coverage=,46;Read_direction_test_probability=,0.9884473249514456;Read_position_test_probability=,0.9151759446907988;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001251987.1;Reverse_read_coverage=,17;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;SF=1,35,40;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.981695|0.0183048;U3_dbsnp_common_v150_hg19_refseq=,U3;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050100880005050537000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:10345|HGNC:HGNC:12261|MIM:603283;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001251987.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,triadin;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TRDN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TRDN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CPVT5|TDN|TRISK;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,triadin|_transcript_variant_2;transcript_id=,NM_001251987.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR3;Gene.refGene=TRDN;GeneDetail.refGene=NM_001251987:c.*42G>A;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q22.31;genomicSuperDups=.;esp6500siv2_all=0.0291;esp6500siv2_ea=0.0399;esp6500siv2_all=0.0291;esp6500siv2_ea=0.0399;1000g2015aug_all=0.00898562;avsnp147=rs17736964;Kaviar_AF=0.0264874;Kaviar_AC=4095;Kaviar_AN=154602;ExAC_ALL=0.0275;ExAC_AFR=0.0066;ExAC_AMR=0.0203;ExAC_EAS=0;ExAC_FIN=0.0298;ExAC_NFE=0.0404;ExAC_OTH=0.0318;ExAC_SAS=0.0062;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.3899;dpsi_zscore=1.010;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0278;gnomAD_exome_AFR=0.0065;gnomAD_exome_AMR=0.0188;gnomAD_exome_ASJ=0.0423;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0298;gnomAD_exome_NFE=0.0417;gnomAD_exome_OTH=0.0381;gnomAD_exome_SAS=0.0056;gnomAD_genome_ALL=0.0303;gnomAD_genome_AFR=0.0068;gnomAD_genome_AMR=0.0251;gnomAD_genome_ASJ=0.0464;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0315;gnomAD_genome_NFE=0.0465;gnomAD_genome_OTH=0.0368;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . 1:45:0,18 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:53:0,53 . . . . 1:66:0,34 . 6 123673628 rs17736964 C T 172.13 . #_unique_end_positions=,16;#_unique_start_positions=,17;AC=4;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0023;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0115;AN=4;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.52;CAF_dbsnp_common_v150_hg19_refseq=,0.991|0.008986;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001251987.1:c.*42G>A|_NM_006073.3:c.1369+56G>A;Coding_region_change_in_longest_transcript=,NM_006073.3:c.1369+56G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0328;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,29;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TRDN:10345;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:10345;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:10345;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12261;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12261;Homo_sapiens_refseq_GRCh37.p13_Genes=,TRDN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001251987.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene14769;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21187;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:603283;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:603283;Non-synonymous=,-;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene14769;QUAL=,116.39375377025743;RSPOS_dbsnp_common_v150_hg19_refseq=,123673628;RS_dbsnp_common_v150_hg19_refseq=,17736964;Read_count=,19;Read_coverage=,46;Read_direction_test_probability=,0.9884473249514456;Read_position_test_probability=,0.9151759446907988;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001251987.1;Reverse_read_coverage=,17;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;SF=1,35,40;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.981695|0.0183048;U3_dbsnp_common_v150_hg19_refseq=,U3;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050100880005050537000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:10345|HGNC:HGNC:12261|MIM:603283;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001251987.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,triadin;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TRDN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TRDN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CPVT5|TDN|TRISK;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,triadin|_transcript_variant_2;transcript_id=,NM_001251987.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR3;Gene.refGene=TRDN;GeneDetail.refGene=NM_001251987:c.*42G>A;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q22.31;genomicSuperDups=.;esp6500siv2_all=0.0291;esp6500siv2_ea=0.0399;esp6500siv2_all=0.0291;esp6500siv2_ea=0.0399;1000g2015aug_all=0.00898562;avsnp147=rs17736964;Kaviar_AF=0.0264874;Kaviar_AC=4095;Kaviar_AN=154602;ExAC_ALL=0.0275;ExAC_AFR=0.0066;ExAC_AMR=0.0203;ExAC_EAS=0;ExAC_FIN=0.0298;ExAC_NFE=0.0404;ExAC_OTH=0.0318;ExAC_SAS=0.0062;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.3899;dpsi_zscore=1.010;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0278;gnomAD_exome_AFR=0.0065;gnomAD_exome_AMR=0.0188;gnomAD_exome_ASJ=0.0423;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0298;gnomAD_exome_NFE=0.0417;gnomAD_exome_OTH=0.0381;gnomAD_exome_SAS=0.0056;gnomAD_genome_ALL=0.0303;gnomAD_genome_AFR=0.0068;gnomAD_genome_AMR=0.0251;gnomAD_genome_ASJ=0.0464;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0315;gnomAD_genome_NFE=0.0465;gnomAD_genome_OTH=0.0368;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . 1:45:0,18 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:53:0,53 . . . . 1:66:0,34 . 6 123687288 227110;rs2873479 A C 89.28 . #_unique_end_positions=,17;#_unique_start_positions=,12;AC=78;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9644;ALLELEID_clinvar_20171029_hg19=,229399;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9510;AN=78;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001238916.1:p.Ile439Ser|_NP_006064.2:p.Ile438Ser;Amino_acid_change_in_longest_transcript=,NP_006064.2:p.Ile438Ser;BaseQRankSum=,-0.31;CAF_dbsnp_common_v150_hg19_refseq=,0.04473|0.9393|0.01597;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1631597|Orphanet:ORPHA3286|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.123687288A>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:40768;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001251987.1:c.1316T>G|_NM_006073.3:c.1313T>G;Coding_region_change_in_longest_transcript=,NM_006073.3:c.1313T>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9196;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9215;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,10;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TRDN:10345;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:10345;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:10345;Genotype=,C/C;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12261;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12261;Homo_sapiens_refseq_GRCh37.p13_Genes=,TRDN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_006073.3|NM_001251987.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene14769;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21186|rna21187;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:603283;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:603283;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene14769;QUAL=,89.02306005127389;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,123687288;RS_dbsnp_common_v150_hg19_refseq=,2873479;Read_count=,22;Read_coverage=,22;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_006073.3|NM_001251987.1;Reverse_read_coverage=,12;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9356;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36,37,38,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.0704129|0.929587|.;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128000a0515053f000101;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.989796;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.890909;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.926829;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.882353;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.914773;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.890244;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.908537;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.977778;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.928571;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.978723;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.931818;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.950893;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.764;db_xref=,GeneID:10345|HGNC:HGNC:12261|MIM:603283;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_006073.3|Genbank:NM_001251987.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,triadin;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TRDN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TRDN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CPVT5|TDN|TRISK;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,triadin|_transcript_variant_1|triadin|_transcript_variant_2;transcript_id=,NM_006073.3|NM_001251987.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TRDN:NM_001251987:exon20:c.T1316G:p.I439S,TRDN:NM_006073:exon20:c.T1313G:p.I438S;cytoBand=6q22.31;genomicSuperDups=.;esp6500siv2_all=0.9255;esp6500siv2_ea=0.9156;esp6500siv2_all=0.9255;esp6500siv2_ea=0.9156;1000g2015aug_all=0.939297;avsnp147=rs2873479;Kaviar_AF=0.0001811;Kaviar_AC=28;Kaviar_AN=154602;ExAC_ALL=0.9240;ExAC_AFR=0.9502;ExAC_AMR=0.9676;ExAC_EAS=0.9158;ExAC_FIN=0.9160;ExAC_NFE=0.9106;ExAC_OTH=0.9297;ExAC_SAS=0.9391;CLNALLELEID=229399;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.415;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.044;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=2.29;FATHMM_pred=T;PROVEAN_score=0.52;PROVEAN_pred=N;VEST3_score=0.027;CADD_raw=0.489;CADD_phred=7.345;DANN_score=0.689;fathmm-MKL_coding_score=0.535;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.929;MetaSVM_pred=T;MetaLR_score=0.007;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=4.68;phyloP7way_vertebrate=-1.954;phyloP20way_mammalian=-0.285;phastCons7way_vertebrate=0.910;phastCons20way_mammalian=0.177;SiPhy_29way_logOdds=7.740;GDI_full_10282015=.;dpsi_max_tissue=5.3329;dpsi_zscore=2.636;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.9256;gnomAD_exome_AFR=0.9524;gnomAD_exome_AMR=0.9652;gnomAD_exome_ASJ=0.9084;gnomAD_exome_EAS=0.9147;gnomAD_exome_FIN=0.9263;gnomAD_exome_NFE=0.9089;gnomAD_exome_OTH=0.9278;gnomAD_exome_SAS=0.9403;gnomAD_genome_ALL=0.9286;gnomAD_genome_AFR=0.9485;gnomAD_genome_AMR=0.9665;gnomAD_genome_ASJ=0.8974;gnomAD_genome_EAS=0.9197;gnomAD_genome_FIN=0.9292;gnomAD_genome_NFE=0.9157;gnomAD_genome_OTH=0.9389;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1/1:20:0,20 1/1:29:0,29 1/1:16:0,16 1/1:21:0,21 1/1:19:0,19 1/1:20:0,20 1/1:16:0,16 1/1:19:0,19 1/1:22:0,22 1/1:15:0,15 1:20:0,12 1/1:19:0,19 1/1:31:0,31 1/1:35:0,35 1:37:0,20 1:20:0,14 1/1:15:0,15 1/1:21:0,21 1/1:22:0,22 1/1:26:0,26 1/1:35:0,35 1/1:20:0,20 1/1:15:0,15 1/1:23:0,23 1/1:24:0,24 1/1:13:0,13 1/1:25:0,25 1/1:20:0,20 1/1:22:0,22 1/1:21:0,21 1/1:25:0,25 1/1:11:0,11 1/1:11:0,11 1/1:16:0,16 1:28:0,18 1/1:21:0,21 1/1:16:0,16 1/1:28:0,28 1/1:16:0,16 . 1/1:28:0,28 1/1:16:0,16 6 123687297 . G T 69.45 . #_unique_end_positions=,8;#_unique_start_positions=,7;AC=1;AN=1;Amino_acid_change=,NP_006064.2:p.Ala435Glu|_NP_001238916.1:p.Ala436Glu;Amino_acid_change_in_longest_transcript=,NP_006064.2:p.Ala435Glu;BaseQRankSum=,0.34;Coding_region_change=,NM_001251987.1:c.1307C>A|_NM_006073.3:c.1304C>A;Coding_region_change_in_longest_transcript=,NM_006073.3:c.1304C>A;Forward_read_coverage=,17;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:10345;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:10345;Genotype=,G/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12261;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12261;Homo_sapiens_refseq_GRCh37.p13_Genes=,TRDN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_006073.3|NM_001251987.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene14769;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21186|rna21187;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:603283;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:603283;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene14769;QUAL=,69.45059932609826;Read_count=,10;Read_coverage=,21;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.939745737364761;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_006073.3|NM_001251987.1;Reverse_read_coverage=,4;SF=10;conservation_score=,0.85;db_xref=,GeneID:10345|HGNC:HGNC:12261|MIM:603283;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_006073.3|Genbank:NM_001251987.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,triadin;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TRDN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TRDN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CPVT5|TDN|TRISK;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,triadin|_transcript_variant_1|triadin|_transcript_variant_2;transcript_id=,NM_006073.3|NM_001251987.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TRDN:NM_001251987:exon20:c.C1307A:p.A436E,TRDN:NM_006073:exon20:c.C1304A:p.A435E;cytoBand=6q22.31;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs370712881;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;ExAC_ALL=3.359e-05;ExAC_AFR=0;ExAC_AMR=0.0004;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.069;SIFT_pred=T;Polyphen2_HDIV_score=0.95;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.412;Polyphen2_HVAR_pred=B;LRT_score=0.181;LRT_pred=N;MutationTaster_score=0.789;MutationTaster_pred=N;MutationAssessor_score=0.695;MutationAssessor_pred=N;FATHMM_score=2.23;FATHMM_pred=T;PROVEAN_score=0.12;PROVEAN_pred=N;VEST3_score=0.318;CADD_raw=2.998;CADD_phred=22.2;DANN_score=0.708;fathmm-MKL_coding_score=0.672;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.089;MetaSVM_pred=T;MetaLR_score=0.014;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=5.55;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.746;phastCons20way_mammalian=0.029;SiPhy_29way_logOdds=14.873;GDI_full_10282015=.;dpsi_max_tissue=-9.9240;dpsi_zscore=-2.903;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=2.444e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0002;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . . . 1:20:0,9 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6 123696766 227108;rs17737379 G T 32.23 . #_unique_end_positions=,4;#_unique_start_positions=,4;AC=10;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3116;AF_ESP_clinvar_20171029_hg19=,0.1612;AF_EXAC_clinvar_20171029_hg19=,0.13741;AF_TGP_clinvar_20171029_hg19=,0.1474;ALLELEID_clinvar_20171029_hg19=,229401;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1196;AN=10;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001238916.1:p.Asp420Glu|_NP_006064.2:p.Asp419Glu;Amino_acid_change_in_longest_transcript=,NP_006064.2:p.Asp419Glu;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.8526|.|0.1474;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1631597|Orphanet:ORPHA3286|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.123696766G>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:40864;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001251987.1:c.1260C>A|_NM_006073.3:c.1257C>A;Coding_region_change_in_longest_transcript=,NM_006073.3:c.1257C>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0665;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1312;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,9;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TRDN:10345;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:10345;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:10345;Genotype=,G/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12261;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12261;Homo_sapiens_refseq_GRCh37.p13_Genes=,TRDN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_006073.3|NM_001251987.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene14769;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21186|rna21187;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:603283;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:603283;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene14769;QUAL=,14.415735707359023;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,123696766;RS_dbsnp_common_v150_hg19_refseq=,17737379;Read_count=,4;Read_coverage=,21;Read_direction_test_probability=,0.9898312754457941;Read_position_test_probability=,0.5900545220283129;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_006073.3|NM_001251987.1;Reverse_read_coverage=,12;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0450;SF=2,4,6,7,8,10,18,19,20,34;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.78776|.|0.21224;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128000a05150537000101;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.27551;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.132743;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.097561;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.0764706;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.0465116;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0595238;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0470588;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.35;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.34507;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.153409;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.358407;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:10345|HGNC:HGNC:12261|MIM:603283;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_006073.3|Genbank:NM_001251987.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,triadin;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TRDN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TRDN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CPVT5|TDN|TRISK;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,triadin|_transcript_variant_1|triadin|_transcript_variant_2;transcript_id=,NM_006073.3|NM_001251987.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TRDN:NM_001251987:exon19:c.C1260A:p.D420E,TRDN:NM_006073:exon19:c.C1257A:p.D419E;cytoBand=6q22.31;genomicSuperDups=.;esp6500siv2_all=0.1612;esp6500siv2_ea=0.1188;esp6500siv2_all=0.1612;esp6500siv2_ea=0.1188;1000g2015aug_all=0.147364;avsnp147=rs17737379;Kaviar_AF=0.0677352;Kaviar_AC=10472;Kaviar_AN=154602;ExAC_ALL=0.1374;ExAC_AFR=0.3015;ExAC_AMR=0.1266;ExAC_EAS=0.1124;ExAC_FIN=0.1567;ExAC_NFE=0.1474;ExAC_OTH=0.168;ExAC_SAS=0.0727;CLNALLELEID=229401;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.327;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-0.805;MutationAssessor_pred=N;FATHMM_score=2.57;FATHMM_pred=T;PROVEAN_score=0.22;PROVEAN_pred=N;VEST3_score=0.027;CADD_raw=0.783;CADD_phred=9.356;DANN_score=0.425;fathmm-MKL_coding_score=0.013;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.910;MetaSVM_pred=T;MetaLR_score=0.004;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=4.14;phyloP7way_vertebrate=0.086;phyloP20way_mammalian=-0.339;phastCons7way_vertebrate=0.999;phastCons20way_mammalian=0.987;SiPhy_29way_logOdds=9.685;GDI_full_10282015=.;dpsi_max_tissue=-3.9691;dpsi_zscore=-2.342;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1137;gnomAD_exome_AFR=0.2582;gnomAD_exome_AMR=0.0999;gnomAD_exome_ASJ=0.1308;gnomAD_exome_EAS=0.0520;gnomAD_exome_FIN=0.1466;gnomAD_exome_NFE=0.1186;gnomAD_exome_OTH=0.1112;gnomAD_exome_SAS=0.0600;gnomAD_genome_ALL=0.1740;gnomAD_genome_AFR=0.2922;gnomAD_genome_AMR=0.1262;gnomAD_genome_ASJ=0.1424;gnomAD_genome_EAS=0.0620;gnomAD_genome_FIN=0.1418;gnomAD_genome_NFE=0.1296;gnomAD_genome_OTH=0.1541;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . 1:17:0,4 . 1:10:0,2 . 1:16:0,4 1:15:0,5 1:18:0,5 . 1:23:0,8 . . . . . . . 1:18:0,5 1:13:0,4 1:28:0,14 . . . . . . . . . . . . . 1:18:0,5 . . . . . . . 6 123699042 227106;rs6901953 T C 69.77 . #_unique_end_positions=,7;#_unique_start_positions=,6;AC=10;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3434;AF_ESP_clinvar_20171029_hg19=,0.3544;AF_EXAC_clinvar_20171029_hg19=,0.34231;AF_TGP_clinvar_20171029_hg19=,0.2722;ALLELEID_clinvar_20171029_hg19=,229404;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4251;AN=10;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.38;CAF_dbsnp_common_v150_hg19_refseq=,0.7278|0.2722;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1631597|Orphanet:ORPHA3286|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.123699042T>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:40824;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001251987.1:c.1191A>G|_NM_006073.3:c.1188A>G;Coding_region_change_in_longest_transcript=,NM_006073.3:c.1188A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1012;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3678;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,2;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TRDN:10345;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:10345;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:10345;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12261;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12261;Homo_sapiens_refseq_GRCh37.p13_Genes=,TRDN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_006073.3|NM_001251987.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene14769;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21186|rna21187;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:603283;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:603283;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene14769;QUAL=,66.58709903500176;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,123699042;RS_dbsnp_common_v150_hg19_refseq=,6901953;Read_count=,10;Read_coverage=,18;Read_direction_test_probability=,0.9998512015477785;Read_position_test_probability=,0.8022994720118367;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_006073.3|NM_001251987.1;Reverse_read_coverage=,16;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1452;SF=3,19,21,26,31,36,38;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.647675|0.352325;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05012800030515053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.346939;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.353982;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.097561;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.1;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.164773;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0348837;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.117647;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.327778;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.398601;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.425287;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.29646;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:10345|HGNC:HGNC:12261|MIM:603283;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_006073.3|Genbank:NM_001251987.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,triadin;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TRDN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TRDN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CPVT5|TDN|TRISK;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,triadin|_transcript_variant_1|triadin|_transcript_variant_2;transcript_id=,NM_006073.3|NM_001251987.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TRDN:NM_001251987:exon17:c.A1191G:p.K397K,TRDN:NM_006073:exon17:c.A1188G:p.K396K;cytoBand=6q22.31;genomicSuperDups=.;esp6500siv2_all=0.3544;esp6500siv2_ea=0.3635;esp6500siv2_all=0.3544;esp6500siv2_ea=0.3635;1000g2015aug_all=0.272165;avsnp147=rs6901953;Kaviar_AF=0.244874;Kaviar_AC=37858;Kaviar_AN=154602;ExAC_ALL=0.3423;ExAC_AFR=0.3792;ExAC_AMR=0.4736;ExAC_EAS=0.1667;ExAC_FIN=0.3201;ExAC_NFE=0.4311;ExAC_OTH=0.3264;ExAC_SAS=0.1967;CLNALLELEID=229404;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.9217;dpsi_zscore=1.943;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3335;gnomAD_exome_AFR=0.3472;gnomAD_exome_AMR=0.4134;gnomAD_exome_ASJ=0.3953;gnomAD_exome_EAS=0.1195;gnomAD_exome_FIN=0.2912;gnomAD_exome_NFE=0.3904;gnomAD_exome_OTH=0.3776;gnomAD_exome_SAS=0.1825;gnomAD_genome_ALL=0.3340;gnomAD_genome_AFR=0.3411;gnomAD_genome_AMR=0.4103;gnomAD_genome_ASJ=0.4371;gnomAD_genome_EAS=0.1139;gnomAD_genome_FIN=0.2780;gnomAD_genome_NFE=0.3618;gnomAD_genome_OTH=0.3102;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . 1:17:0,9 . . . . . . . . . . . . . . . 1:18:0,5 . 1/1:15:0,15 . . . . 1/1:16:0,16 . . . . 1/1:18:0,18 . . . . 1:30:0,10 . 1:27:0,14 . . . 6 123824837 rs189106156 C T 200.00 . #_unique_end_positions=,27;#_unique_start_positions=,24;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0008;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AN=1;Amino_acid_change=,NP_001242950.1:p.Gly274Arg;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.24;Coding_region_change=,NM_001251987.1:c.793+27G>A|_NM_001256020.1:c.793+27G>A|_NM_001256021.1:c.820G>A|_NM_006073.3:c.793+27G>A;Coding_region_change_in_longest_transcript=,NM_006073.3:c.793+27G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;Exact_match=,1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,29;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:10345;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:10345;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12261;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12261;Homo_sapiens_refseq_GRCh37.p13_Genes=,TRDN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001256021.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene14769;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21189;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:603283;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:603283;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene14769;QUAL=,200.0;Read_count=,31;Read_coverage=,59;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.7672327844248203;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001256021.1;Reverse_read_coverage=,30;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=4;conservation_score=,0.001;db_xref=,GeneID:10345|HGNC:HGNC:12261|MIM:603283;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001256021.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,triadin;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TRDN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TRDN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CPVT5|TDN|TRISK;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,triadin|_transcript_variant_4;transcript_id=,NM_001256021.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TRDN:NM_001256021:exon8:c.G820A:p.G274R;cytoBand=6q22.31;genomicSuperDups=.;esp6500siv2_all=8.3e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=8.3e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=0.000399361;avsnp147=rs189106156;Kaviar_AF=0.0007244;Kaviar_AC=112;Kaviar_AN=154602;ExAC_ALL=0.0009;ExAC_AFR=0.0001;ExAC_AMR=0.0044;ExAC_EAS=0.0001;ExAC_FIN=0;ExAC_NFE=9.845e-05;ExAC_OTH=0;ExAC_SAS=0.0031;CLNALLELEID=496473;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=0.994;MutationTaster_pred=N;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=0.048;CADD_raw=-0.166;CADD_phred=1.290;DANN_score=0.527;fathmm-MKL_coding_score=0.013;fathmm-MKL_coding_pred=N;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=0.294;integrated_confidence_value=0;GERP++_RS=-2.41;phyloP7way_vertebrate=-0.011;phyloP20way_mammalian=-0.414;phastCons7way_vertebrate=0.241;phastCons20way_mammalian=0.014;SiPhy_29way_logOdds=10.747;GDI_full_10282015=.;dpsi_max_tissue=-0.2659;dpsi_zscore=-0.802;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0008;gnomAD_exome_AFR=6.562e-05;gnomAD_exome_AMR=0.0025;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=5.83e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0001;gnomAD_exome_OTH=0.0006;gnomAD_exome_SAS=0.0027;gnomAD_genome_ALL=3.233e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.673e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:DP:CLCAD2 . . . . 1:58:0,31 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6 123824837 rs189106156 C T 200.00 . #_unique_end_positions=,27;#_unique_start_positions=,24;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0008;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AN=1;Amino_acid_change=,NP_001242950.1:p.Gly274Arg;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.24;Coding_region_change=,NM_001251987.1:c.793+27G>A|_NM_001256020.1:c.793+27G>A|_NM_001256021.1:c.820G>A|_NM_006073.3:c.793+27G>A;Coding_region_change_in_longest_transcript=,NM_006073.3:c.793+27G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;Exact_match=,1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,29;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:10345;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:10345;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12261;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12261;Homo_sapiens_refseq_GRCh37.p13_Genes=,TRDN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001256021.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene14769;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21189;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:603283;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:603283;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene14769;QUAL=,200.0;Read_count=,31;Read_coverage=,59;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.7672327844248203;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001256021.1;Reverse_read_coverage=,30;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=4;conservation_score=,0.001;db_xref=,GeneID:10345|HGNC:HGNC:12261|MIM:603283;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001256021.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,triadin;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TRDN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TRDN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CPVT5|TDN|TRISK;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,triadin|_transcript_variant_4;transcript_id=,NM_001256021.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TRDN:NM_001256021:exon8:c.G820A:p.G274R;cytoBand=6q22.31;genomicSuperDups=.;esp6500siv2_all=8.3e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=8.3e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=0.000399361;avsnp147=rs189106156;Kaviar_AF=0.0007244;Kaviar_AC=112;Kaviar_AN=154602;ExAC_ALL=0.0009;ExAC_AFR=0.0001;ExAC_AMR=0.0044;ExAC_EAS=0.0001;ExAC_FIN=0;ExAC_NFE=9.845e-05;ExAC_OTH=0;ExAC_SAS=0.0031;CLNALLELEID=496473;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=0.994;MutationTaster_pred=N;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=0.048;CADD_raw=-0.166;CADD_phred=1.290;DANN_score=0.527;fathmm-MKL_coding_score=0.013;fathmm-MKL_coding_pred=N;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=0.294;integrated_confidence_value=0;GERP++_RS=-2.41;phyloP7way_vertebrate=-0.011;phyloP20way_mammalian=-0.414;phastCons7way_vertebrate=0.241;phastCons20way_mammalian=0.014;SiPhy_29way_logOdds=10.747;GDI_full_10282015=.;dpsi_max_tissue=-0.2659;dpsi_zscore=-0.802;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0008;gnomAD_exome_AFR=6.562e-05;gnomAD_exome_AMR=0.0025;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=5.83e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0001;gnomAD_exome_OTH=0.0006;gnomAD_exome_SAS=0.0027;gnomAD_genome_ALL=3.233e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.673e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:DP:CLCAD2 . . . . 1:58:0,31 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6 123869607 227119;rs9490809 G C 106.16 . #_unique_end_positions=,36;#_unique_start_positions=,29;AC=43;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5363;AF_EXAC_clinvar_20171029_hg19=,0.49256;AF_TGP_clinvar_20171029_hg19=,0.3930;ALLELEID_clinvar_20171029_hg19=,229415;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3372;AN=43;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001242951.1:p.Thr128Ser|_NP_001242949.1:p.Thr128Ser|_NP_001242950.1:p.Thr128Ser|_NP_006064.2:p.Thr128Ser|_NP_001238916.1:p.Thr128Ser;Amino_acid_change_in_longest_transcript=,NP_006064.2:p.Thr128Ser;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.607|0.393;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1631597|Orphanet:ORPHA3286|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.123869607G>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:40809;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001251987.1:c.383C>G|_NM_001256020.1:c.383C>G|_NM_001256021.1:c.383C>G|_NM_001256022.1:c.383C>G|_NM_006073.3:c.383C>G;Coding_region_change_in_longest_transcript=,NM_006073.3:c.383C>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0813;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5298;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,38;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TRDN:10345;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:10345;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:10345;Genotype=,C/C;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12261;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12261;Homo_sapiens_refseq_GRCh37.p13_Genes=,TRDN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_006073.3|NM_001251987.1|NM_001256020.1|NM_001256021.1|NM_001256022.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene14769;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21186|rna21187|rna21188|rna21189|rna21190;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:603283;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:603283;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene14769;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,123869607;RS_dbsnp_common_v150_hg19_refseq=,9490809;Read_count=,51;Read_coverage=,51;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_006073.3|NM_001251987.1|NM_001256020.1|NM_001256021.1|NM_001256022.1;Reverse_read_coverage=,13;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4192;SF=0,1,2,3,5,6,7,8,10,11,12,14,17,18,19,20,21,22,23,24,25,26,27,29,31,32,33,34,35,37,38,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.486881|0.513119;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128000a0517053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.469388;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.517857;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.0609756;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.117647;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.403409;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0697674;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0697674;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.45;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.27551;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.447552;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.545455;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.60177;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.17;db_xref=,GeneID:10345|HGNC:HGNC:12261|MIM:603283;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_006073.3|Genbank:NM_001251987.1|Genbank:NM_001256020.1|Genbank:NM_001256021.1|Genbank:NM_001256022.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,triadin;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TRDN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TRDN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CPVT5|TDN|TRISK;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,triadin|_transcript_variant_1|triadin|_transcript_variant_2|triadin|_transcript_variant_3|triadin|_transcript_variant_4|triadin|_transcript_variant_5;transcript_id=,NM_006073.3|NM_001251987.1|NM_001256020.1|NM_001256021.1|NM_001256022.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TRDN:NM_001251987:exon3:c.C383G:p.T128S,TRDN:NM_001256020:exon3:c.C383G:p.T128S,TRDN:NM_001256021:exon3:c.C383G:p.T128S,TRDN:NM_001256022:exon3:c.C383G:p.T128S,TRDN:NM_006073:exon3:c.C383G:p.T128S;cytoBand=6q22.31;genomicSuperDups=.;esp6500siv2_all=0.5412;esp6500siv2_ea=0.5375;esp6500siv2_all=0.5412;esp6500siv2_ea=0.5375;1000g2015aug_all=0.392971;avsnp147=rs9490809;Kaviar_AF=0.421152;Kaviar_AC=65111;Kaviar_AN=154602;ExAC_ALL=0.4926;ExAC_AFR=0.5424;ExAC_AMR=0.3052;ExAC_EAS=0.1014;ExAC_FIN=0.5886;ExAC_NFE=0.5608;ExAC_OTH=0.4899;ExAC_SAS=0.4480;CLNALLELEID=229415;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.474;SIFT_pred=T;Polyphen2_HDIV_score=0.874;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.443;Polyphen2_HVAR_pred=B;LRT_score=0.362;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=1.78;MutationAssessor_pred=L;FATHMM_score=0.58;FATHMM_pred=T;PROVEAN_score=-0.66;PROVEAN_pred=N;VEST3_score=0.084;CADD_raw=-0.436;CADD_phred=0.316;DANN_score=0.239;fathmm-MKL_coding_score=0.347;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.071;MetaSVM_pred=T;MetaLR_score=0.096;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=1.97;phyloP7way_vertebrate=0.034;phyloP20way_mammalian=0.084;phastCons7way_vertebrate=0.933;phastCons20way_mammalian=0.458;SiPhy_29way_logOdds=4.223;GDI_full_10282015=.;dpsi_max_tissue=-4.1907;dpsi_zscore=-2.379;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.4419;gnomAD_exome_AFR=0.5288;gnomAD_exome_AMR=0.2497;gnomAD_exome_ASJ=0.5784;gnomAD_exome_EAS=0.0792;gnomAD_exome_FIN=0.5682;gnomAD_exome_NFE=0.5166;gnomAD_exome_OTH=0.4754;gnomAD_exome_SAS=0.3914;gnomAD_genome_ALL=0.5046;gnomAD_genome_AFR=0.5368;gnomAD_genome_AMR=0.3169;gnomAD_genome_ASJ=0.52;gnomAD_genome_EAS=0.0646;gnomAD_genome_FIN=0.5806;gnomAD_genome_NFE=0.5242;gnomAD_genome_OTH=0.5308;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1/1:43:0,43 1/1:18:0,18 1:29:0,12 1:22:0,9 . 1/1:14:0,14 1:22:0,16 1/1:27:0,27 1:37:0,24 . 1:45:0,21 1:23:0,12 1:29:0,18 . 1/1:31:0,31 . . 1/1:43:0,43 1:22:0,9 1:24:0,10 1:52:0,27 1:39:0,15 1/1:28:0,28 1:18:0,10 1:32:0,14 1/1:24:0,24 1:39:0,19 1:38:0,19 . 1:34:0,15 . 1:25:0,12 1:23:0,11 1:19:0,4 1:61:0,26 1/1:25:0,25 . 1:41:0,26 1:26:0,11 1:23:0,13 1:36:0,16 1:46:0,24 6 123957904 240284 G A 94.38 . #_unique_end_positions=,14;#_unique_start_positions=,15;AC=2;AF_EXAC_clinvar_20171029_hg19=,0.00003;ALLELEID_clinvar_20171029_hg19=,239886;AN=2;Amino_acid_change=,NP_006064.2:p.Ala6Val|_NP_001242949.1:p.Ala6Val|_NP_001242951.1:p.Ala6Val|_NP_001238916.1:p.Ala6Val|_NP_001242950.1:p.Ala6Val;Amino_acid_change_in_longest_transcript=,NP_006064.2:p.Ala6Val;BaseQRankSum=,0.17;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1631597|Orphanet:ORPHA3286;CLNDN_clinvar_20171029_hg19=,Catecholaminergic_polymorphic_ventricular_tachycardia;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.123957904G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_single_submitter;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;Coding_region_change=,NM_001251987.1:c.17C>T|_NM_001256020.1:c.17C>T|_NM_001256021.1:c.17C>T|_NM_001256022.1:c.17C>T|_NM_006073.3:c.17C>T;Coding_region_change_in_longest_transcript=,NM_006073.3:c.17C>T;Exact_match=,clinvar_20171029_hg19;Forward_read_coverage=,25;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:10345;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:10345;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12261;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12261;Homo_sapiens_refseq_GRCh37.p13_Genes=,TRDN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_006073.3|NM_001251987.1|NM_001256020.1|NM_001256021.1|NM_001256022.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene14769;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21186|rna21187|rna21188|rna21189|rna21190;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:603283;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:603283;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene14769;QUAL=,72.7931592357501;Read_count=,17;Read_coverage=,54;Read_direction_test_probability=,0.8430756101743331;Read_position_test_probability=,0.9362598350150331;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_006073.3|NM_001251987.1|NM_001256020.1|NM_001256021.1|NM_001256022.1;Reverse_read_coverage=,29;SF=23,38;conservation_score=,1.0;db_xref=,GeneID:10345|HGNC:HGNC:12261|MIM:603283;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_006073.3|Genbank:NM_001251987.1|Genbank:NM_001256020.1|Genbank:NM_001256021.1|Genbank:NM_001256022.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,triadin;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TRDN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TRDN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CPVT5|TDN|TRISK;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,triadin|_transcript_variant_1|triadin|_transcript_variant_2|triadin|_transcript_variant_3|triadin|_transcript_variant_4|triadin|_transcript_variant_5;transcript_id=,NM_006073.3|NM_001251987.1|NM_001256020.1|NM_001256021.1|NM_001256022.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TRDN:NM_001251987:exon1:c.C17T:p.A6V,TRDN:NM_001256020:exon1:c.C17T:p.A6V,TRDN:NM_001256021:exon1:c.C17T:p.A6V,TRDN:NM_001256022:exon1:c.C17T:p.A6V,TRDN:NM_006073:exon1:c.C17T:p.A6V;cytoBand=6q22.31;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs764897557;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;ExAC_ALL=3.331e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=6.017e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=239886;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.464;SIFT_pred=T;Polyphen2_HDIV_score=0.657;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.255;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.700;MutationTaster_pred=N;MutationAssessor_score=0.695;MutationAssessor_pred=N;FATHMM_score=2.02;FATHMM_pred=T;PROVEAN_score=-0.74;PROVEAN_pred=N;VEST3_score=0.23;CADD_raw=3.418;CADD_phred=23.0;DANN_score=0.997;fathmm-MKL_coding_score=0.952;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.039;MetaSVM_pred=T;MetaLR_score=0.084;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=5.67;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.997;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=13.365;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=1.224e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=2.704e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=3.236e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.668e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . 1:47:0,15 . . . . . . . . . . . . . . 1:32:0,17 . . . 6 129371106 92938;rs1140366 C T 138.84 . #_unique_end_positions=,21;#_unique_start_positions=,21;AC=17;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0015;AF_ESP_clinvar_20171029_hg19=,0.0850;AF_EXAC_clinvar_20171029_hg19=,0.09964;AF_TGP_clinvar_20171029_hg19=,0.0707;ALLELEID_clinvar_20171029_hg19=,98845;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0749;AN=17;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.38;CAF_dbsnp_common_v150_hg19_refseq=,0.9293|.|0.07069;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374|MedGen:CN239326;CLNDN_clinvar_20171029_hg19=,not_specified|Congenital_Muscular_Dystrophy|_LAMA2-related;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.129371106C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:40851;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000426.3:c.156C>T|_NM_001079823.1:c.156C>T;Coding_region_change_in_longest_transcript=,NM_000426.3:c.156C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1250;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1282;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI;Forward_read_coverage=,38;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,LAMA2:3908;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:3908;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:3908;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:6482;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:6482;Homo_sapiens_refseq_GRCh37.p13_Genes=,LAMA2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001079823.1|NM_000426.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene14812;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21260|rna21259;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:156225;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:156225;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene14812;QUAL=,156.53559774527022;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,129371106;RS_dbsnp_common_v150_hg19_refseq=,1140366;Read_count=,28;Read_coverage=,67;Read_direction_test_probability=,0.9712636437127177;Read_position_test_probability=,0.9590328140539056;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001079823.1|NM_000426.3;Reverse_read_coverage=,29;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0460;SF=0,2,3,8,15,17,22,23,24,28,30,35,36,38,39,40;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.926128|.|0.0738718;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05012800030515053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.0102041;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.144068;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.134146;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.182353;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.0568182;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.111111;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0888889;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.05;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.0734266;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.1875;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:3908|HGNC:HGNC:6482|MIM:156225;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:01125;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001079823.1|HPRD:01125|Genbank:NM_000426.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,laminin_subunit_alpha_2;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LAMA2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,LAMA2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LAMM;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,laminin_subunit_alpha_2|_transcript_variant_2|laminin_subunit_alpha_2|_transcript_variant_1;transcript_id=,NM_001079823.1|NM_000426.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMA2:NM_000426:exon2:c.C156T:p.I52I,LAMA2:NM_001079823:exon2:c.C156T:p.I52I;cytoBand=6q22.33;genomicSuperDups=.;esp6500siv2_all=0.0850;esp6500siv2_ea=0.1164;esp6500siv2_all=0.0850;esp6500siv2_ea=0.1164;1000g2015aug_all=0.0706869;avsnp147=rs1140366;Kaviar_AF=0.0988668;Kaviar_AC=15285;Kaviar_AN=154602;ExAC_ALL=0.0996;ExAC_AFR=0.0197;ExAC_AMR=0.0601;ExAC_EAS=0.1532;ExAC_FIN=0.1022;ExAC_NFE=0.1232;ExAC_OTH=0.1013;ExAC_SAS=0.0532;CLNALLELEID=98845;CLNDN=Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related;CLNDISDB=MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1907;dpsi_zscore=-0.669;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0987;gnomAD_exome_AFR=0.0169;gnomAD_exome_AMR=0.0649;gnomAD_exome_ASJ=0.1846;gnomAD_exome_EAS=0.1523;gnomAD_exome_FIN=0.0962;gnomAD_exome_NFE=0.1162;gnomAD_exome_OTH=0.1055;gnomAD_exome_SAS=0.0556;gnomAD_genome_ALL=0.0878;gnomAD_genome_AFR=0.0174;gnomAD_genome_AMR=0.0658;gnomAD_genome_ASJ=0.1933;gnomAD_genome_EAS=0.1566;gnomAD_genome_FIN=0.1046;gnomAD_genome_NFE=0.1159;gnomAD_genome_OTH=0.0980;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:58:0,24 . 1:40:0,14 1:29:0,16 . . . . 1:42:0,24 . . . . . . 1:29:0,13 . 1:46:0,19 . . . . 1:56:0,19 1:53:0,23 1:52:0,25 . . . 1:56:0,26 . 1:48:0,20 . . . . 1/1:55:0,55 1:43:0,22 . 1:37:0,14 1:44:0,24 1:62:0,25 . 6 129381026 92955;rs4404787 C A 81.84 . #_unique_end_positions=,20;#_unique_start_positions=,16;AC=77;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.8986;ALLELEID_clinvar_20171029_hg19=,98862;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9841;AN=77;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.66;CAF_dbsnp_common_v150_hg19_refseq=,0.0633|0.9367;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374|MedGen:CN239326;CLNDN_clinvar_20171029_hg19=,not_specified|Congenital_Muscular_Dystrophy|_LAMA2-related;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.129381026C>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:40829;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000426.3:c.381C>A|_NM_001079823.1:c.381C>A;Coding_region_change_in_longest_transcript=,NM_000426.3:c.381C>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9673;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9702;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,12;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,LAMA2:3908;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:3908;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:3908;Genotype=,A/A;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:6482;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:6482;Homo_sapiens_refseq_GRCh37.p13_Genes=,LAMA2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001079823.1|NM_000426.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene14812;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21260|rna21259;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:156225;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:156225;MTP_dbsnp_common_v150_hg19_refseq=,MTP;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene14812;QUAL=,98.2979904464623;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,129381026;RS_dbsnp_common_v150_hg19_refseq=,4404787;Read_count=,27;Read_coverage=,27;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001079823.1|NM_000426.3;Reverse_read_coverage=,15;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.8885;SF=0,1,2,3,4,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,22,23,24,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.0609932|0.939007;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05012800030515053f020100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.857143;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.964602;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.926829;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.982353;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.909091;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.988372;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.97093;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.955556;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.97;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.853147;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.971591;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.889381;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.564;db_xref=,GeneID:3908|HGNC:HGNC:6482|MIM:156225;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:01125;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001079823.1|HPRD:01125|Genbank:NM_000426.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,laminin_subunit_alpha_2;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LAMA2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,LAMA2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LAMM;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,laminin_subunit_alpha_2|_transcript_variant_2|laminin_subunit_alpha_2|_transcript_variant_1;transcript_id=,NM_001079823.1|NM_000426.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMA2:NM_000426:exon3:c.C381A:p.T127T,LAMA2:NM_001079823:exon3:c.C381A:p.T127T;cytoBand=6q22.33;genomicSuperDups=.;esp6500siv2_all=0.9473;esp6500siv2_ea=0.9699;esp6500siv2_all=0.9473;esp6500siv2_ea=0.9699;1000g2015aug_all=0.936701;avsnp147=rs4404787;Kaviar_AF=0.948435;Kaviar_AC=146630;Kaviar_AN=154602;ExAC_ALL=0.9578;ExAC_AFR=0.9024;ExAC_AMR=0.9849;ExAC_EAS=0.9742;ExAC_FIN=0.9859;ExAC_NFE=0.9705;ExAC_OTH=0.9692;ExAC_SAS=0.9023;CLNALLELEID=98862;CLNDN=Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related;CLNDISDB=MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.2078;dpsi_zscore=0.738;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.9609;gnomAD_exome_AFR=0.9003;gnomAD_exome_AMR=0.9844;gnomAD_exome_ASJ=0.9720;gnomAD_exome_EAS=0.9767;gnomAD_exome_FIN=0.9848;gnomAD_exome_NFE=0.9694;gnomAD_exome_OTH=0.9681;gnomAD_exome_SAS=0.9033;gnomAD_genome_ALL=0.9540;gnomAD_genome_AFR=0.9027;gnomAD_genome_AMR=0.9773;gnomAD_genome_ASJ=0.9636;gnomAD_genome_EAS=0.9759;gnomAD_genome_FIN=0.9840;gnomAD_genome_NFE=0.9723;gnomAD_genome_OTH=0.9644;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1/1:23:0,23 1/1:11:0,11 1/1:10:0,10 1/1:13:0,13 1/1:14:0,14 . 1/1:12:0,12 1/1:10:0,10 1/1:22:0,22 1/1:14:0,14 1/1:15:0,15 1/1:19:0,19 1/1:20:0,20 1/1:15:0,15 1/1:23:0,23 1:19:0,8 1/1:24:0,24 1/1:19:0,19 1/1:12:0,12 1/1:21:0,21 1/1:31:0,31 . 1/1:18:0,18 1/1:17:0,17 1/1:15:0,15 . 1/1:19:0,19 1/1:25:0,25 1/1:26:0,26 1/1:25:0,25 1/1:26:0,26 1/1:13:0,13 1/1:16:0,16 1/1:14:0,14 1/1:18:0,18 1/1:17:0,17 1/1:16:0,16 1/1:15:0,15 1/1:13:0,13 1/1:16:0,16 1/1:21:0,21 1/1:16:0,16 6 129571272 92941;rs36044314 G A 45.61 . #_unique_end_positions=,11;#_unique_start_positions=,10;AC=2;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0008;AF_ESP_clinvar_20171029_hg19=,0.0146;AF_EXAC_clinvar_20171029_hg19=,0.01322;AF_TGP_clinvar_20171029_hg19=,0.0096;ALLELEID_clinvar_20171029_hg19=,98848;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0115;AN=2;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_000417.2:p.Gly600Arg|_NP_001073291.1:p.Gly600Arg;Amino_acid_change_in_longest_transcript=,NP_000417.2:p.Gly600Arg;BaseQRankSum=,0.5;CAF_dbsnp_common_v150_hg19_refseq=,0.9904|0.009585;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.129571272G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000426.3:c.1798G>A|_NM_001079823.1:c.1798G>A;Coding_region_change_in_longest_transcript=,NM_000426.3:c.1798G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0139;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,11;GENEINFO_dbsnp_common_v150_hg19_refseq=,LAMA2:3908;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:3908;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:3908;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:6482;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:6482;Homo_sapiens_refseq_GRCh37.p13_Genes=,LAMA2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001079823.1|NM_000426.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene14812;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21260|rna21259;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:156225;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:156225;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene14812;QUAL=,52.89616683237051;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,129571272;RS_dbsnp_common_v150_hg19_refseq=,36044314;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,11;Read_coverage=,18;Read_direction_test_probability=,0.9930594775696987;Read_position_test_probability=,0.9195722915134983;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001079823.1|NM_000426.3;Reverse_read_coverage=,7;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0256;SF=12,21;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.988392|0.0116079;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128000a05040536000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:3908|HGNC:HGNC:6482|MIM:156225;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:01125;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001079823.1|HPRD:01125|Genbank:NM_000426.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,laminin_subunit_alpha_2;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LAMA2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,LAMA2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LAMM;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,laminin_subunit_alpha_2|_transcript_variant_2|laminin_subunit_alpha_2|_transcript_variant_1;transcript_id=,NM_001079823.1|NM_000426.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA2:NM_000426:exon13:c.G1798A:p.G600R,LAMA2:NM_001079823:exon13:c.G1798A:p.G600R;cytoBand=6q22.33;genomicSuperDups=.;esp6500siv2_all=0.0146;esp6500siv2_ea=0.0206;esp6500siv2_all=0.0146;esp6500siv2_ea=0.0206;1000g2015aug_all=0.00958466;avsnp147=rs36044314;Kaviar_AF=0.0133633;Kaviar_AC=2066;Kaviar_AN=154602;ExAC_ALL=0.0132;ExAC_AFR=0.0035;ExAC_AMR=0.0072;ExAC_EAS=0.0006;ExAC_FIN=0.0092;ExAC_NFE=0.0172;ExAC_OTH=0.0121;ExAC_SAS=0.0156;CLNALLELEID=98848;CLNDN=Laminin_alpha_2-related_dystrophy|not_specified;CLNDISDB=MedGen:CN117977|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.031;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.985;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=2.365;MutationAssessor_pred=M;FATHMM_score=1.1;FATHMM_pred=T;PROVEAN_score=-6.58;PROVEAN_pred=D;VEST3_score=0.397;CADD_raw=6.614;CADD_phred=32;DANN_score=0.999;fathmm-MKL_coding_score=0.954;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.683;MetaSVM_pred=T;MetaLR_score=0.237;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.69;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.953;phastCons7way_vertebrate=0.987;phastCons20way_mammalian=0.988;SiPhy_29way_logOdds=18.951;GDI_full_10282015=.;dpsi_max_tissue=0.5450;dpsi_zscore=1.176;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0139;gnomAD_exome_AFR=0.0035;gnomAD_exome_AMR=0.0086;gnomAD_exome_ASJ=0.0281;gnomAD_exome_EAS=0.0008;gnomAD_exome_FIN=0.0085;gnomAD_exome_NFE=0.0180;gnomAD_exome_OTH=0.0146;gnomAD_exome_SAS=0.0164;gnomAD_genome_ALL=0.0109;gnomAD_genome_AFR=0.0027;gnomAD_genome_AMR=0.0179;gnomAD_genome_ASJ=0.0265;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0074;gnomAD_genome_NFE=0.0169;gnomAD_genome_OTH=0.0092;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:DP:CLCAD2 . . . . . . . . . . . . 1:18:0,11 . . . . . . . . 1:32:0,9 . . . . . . . . . . . . . . . . . . . . 6 129571330 92943;rs3816665 G A 74.75 . #_unique_end_positions=,9;#_unique_start_positions=,8;AC=14;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5961;AF_ESP_clinvar_20171029_hg19=,0.2697;AF_EXAC_clinvar_20171029_hg19=,0.18276;AF_TGP_clinvar_20171029_hg19=,0.2710;ALLELEID_clinvar_20171029_hg19=,98850;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1340;AN=14;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_000417.2:p.Arg619His|_NP_001073291.1:p.Arg619His;Amino_acid_change_in_longest_transcript=,NP_000417.2:p.Arg619His;BaseQRankSum=,-0.4;CAF_dbsnp_common_v150_hg19_refseq=,0.729|0.271;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374|MedGen:CN239326;CLNDN_clinvar_20171029_hg19=,not_specified|Congenital_Muscular_Dystrophy|_LAMA2-related;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.129571330G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:40837|UniProtKB_(protein):P24043#VAR_004166;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000426.3:c.1856G>A|_NM_001079823.1:c.1856G>A;Coding_region_change_in_longest_transcript=,NM_000426.3:c.1856G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0843;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1551;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,5;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,LAMA2:3908;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:3908;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:3908;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:6482;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:6482;Homo_sapiens_refseq_GRCh37.p13_Genes=,LAMA2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001079823.1|NM_000426.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene14812;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21260|rna21259;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:156225;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:156225;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene14812;QUAL=,74.40273501061131;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,129571330;RS_dbsnp_common_v150_hg19_refseq=,3816665;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,9;Read_coverage=,18;Read_direction_test_probability=,0.9920928309476577;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001079823.1|NM_000426.3;Reverse_read_coverage=,13;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2403;SF=1,3,5,7,11,15,17,23,26,27,30,33,38,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.689058|0.310942;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128000a0517053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.438776;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.193694;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.0731707;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.0662651;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.244318;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0697674;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.123529;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.516854;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.454545;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.119318;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.645455;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.0;db_xref=,GeneID:3908|HGNC:HGNC:6482|MIM:156225;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:01125;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001079823.1|HPRD:01125|Genbank:NM_000426.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,laminin_subunit_alpha_2;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LAMA2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,LAMA2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LAMM;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,laminin_subunit_alpha_2|_transcript_variant_2|laminin_subunit_alpha_2|_transcript_variant_1;transcript_id=,NM_001079823.1|NM_000426.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA2:NM_000426:exon13:c.G1856A:p.R619H,LAMA2:NM_001079823:exon13:c.G1856A:p.R619H;cytoBand=6q22.33;genomicSuperDups=.;esp6500siv2_all=0.2697;esp6500siv2_ea=0.14;esp6500siv2_all=0.2697;esp6500siv2_ea=0.14;1000g2015aug_all=0.270966;avsnp147=rs3816665;Kaviar_AF=0.177811;Kaviar_AC=27490;Kaviar_AN=154602;ExAC_ALL=0.1828;ExAC_AFR=0.5435;ExAC_AMR=0.1276;ExAC_EAS=0.0832;ExAC_FIN=0.1884;ExAC_NFE=0.1346;ExAC_OTH=0.1925;ExAC_SAS=0.2376;CLNALLELEID=98850;CLNDN=Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related;CLNDISDB=MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.287;SIFT_pred=T;Polyphen2_HDIV_score=0.004;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.003;Polyphen2_HVAR_pred=B;LRT_score=0.233;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=1.445;MutationAssessor_pred=L;FATHMM_score=1.26;FATHMM_pred=T;PROVEAN_score=0.05;PROVEAN_pred=N;VEST3_score=0.049;CADD_raw=-0.271;CADD_phred=0.771;DANN_score=0.731;fathmm-MKL_coding_score=0.012;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.045;MetaSVM_pred=T;MetaLR_score=0.036;MetaLR_pred=T;integrated_fitCons_score=0.549;integrated_confidence_value=0;GERP++_RS=-5.14;phyloP7way_vertebrate=-0.444;phyloP20way_mammalian=-3.167;phastCons7way_vertebrate=0.334;phastCons20way_mammalian=0.001;SiPhy_29way_logOdds=16.131;GDI_full_10282015=.;dpsi_max_tissue=-1.3925;dpsi_zscore=-1.670;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1735;gnomAD_exome_AFR=0.5444;gnomAD_exome_AMR=0.1191;gnomAD_exome_ASJ=0.1573;gnomAD_exome_EAS=0.0780;gnomAD_exome_FIN=0.1899;gnomAD_exome_NFE=0.1358;gnomAD_exome_OTH=0.1571;gnomAD_exome_SAS=0.2347;gnomAD_genome_ALL=0.2530;gnomAD_genome_AFR=0.5371;gnomAD_genome_AMR=0.1089;gnomAD_genome_ASJ=0.1490;gnomAD_genome_EAS=0.0803;gnomAD_genome_FIN=0.1869;gnomAD_genome_NFE=0.1374;gnomAD_genome_OTH=0.1762;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . 1:18:0,9 . 1:21:0,11 . 1:26:0,15 . 1:26:0,12 . . . 1:19:0,7 . . . 1:37:0,15 . 1:34:0,15 . . . . . 1:22:0,6 . . 1:27:0,6 1:23:0,8 . . 1:31:0,15 . . 1:14:0,9 . . . . 1:25:0,13 . . 1:33:0,15 6 129612808 92949;rs1027199 A G 145.19 . #_unique_end_positions=,29;#_unique_start_positions=,31;AC=25;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3313;AF_ESP_clinvar_20171029_hg19=,0.2584;AF_EXAC_clinvar_20171029_hg19=,0.26830;AF_TGP_clinvar_20171029_hg19=,0.3139;ALLELEID_clinvar_20171029_hg19=,98856;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2233;AN=25;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.81;CAF_dbsnp_common_v150_hg19_refseq=,0.6861|0.3139;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374|MedGen:CN239326;CLNDN_clinvar_20171029_hg19=,not_specified|Congenital_Muscular_Dystrophy|_LAMA2-related;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.129612808A>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:40869;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000426.3:c.2799A>G|_NM_001079823.1:c.2799A>G;Coding_region_change_in_longest_transcript=,NM_000426.3:c.2799A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4742;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2256;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,21;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,LAMA2:3908;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:3908;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:3908;Genotype=,G/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:6482;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:6482;Homo_sapiens_refseq_GRCh37.p13_Genes=,LAMA2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001079823.1|NM_000426.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene14812;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21260|rna21259;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:156225;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:156225;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene14812;QUAL=,143.313404797931;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,129612808;RS_dbsnp_common_v150_hg19_refseq=,1027199;Read_count=,41;Read_coverage=,41;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001079823.1|NM_000426.3;Reverse_read_coverage=,20;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2802;SF=1,2,4,5,6,7,8,10,11,12,13,14,15,17,19,21,23,26,33,34,37,38,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.721203|0.278797;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05012800030517053e000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.001;db_xref=,GeneID:3908|HGNC:HGNC:6482|MIM:156225;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:01125;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001079823.1|HPRD:01125|Genbank:NM_000426.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,laminin_subunit_alpha_2;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LAMA2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,LAMA2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LAMM;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,laminin_subunit_alpha_2|_transcript_variant_2|laminin_subunit_alpha_2|_transcript_variant_1;transcript_id=,NM_001079823.1|NM_000426.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMA2:NM_000426:exon20:c.A2799G:p.Q933Q,LAMA2:NM_001079823:exon20:c.A2799G:p.Q933Q;cytoBand=6q22.33;genomicSuperDups=.;esp6500siv2_all=0.2584;esp6500siv2_ea=0.2272;esp6500siv2_all=0.2584;esp6500siv2_ea=0.2272;1000g2015aug_all=0.313898;avsnp147=rs1027199;Kaviar_AF=0.260501;Kaviar_AC=40274;Kaviar_AN=154602;ExAC_ALL=0.2683;ExAC_AFR=0.3266;ExAC_AMR=0.2813;ExAC_EAS=0.4405;ExAC_FIN=0.2884;ExAC_NFE=0.2253;ExAC_OTH=0.2754;ExAC_SAS=0.2976;CLNALLELEID=98856;CLNDN=Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related;CLNDISDB=MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0155;dpsi_zscore=-0.075;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2691;gnomAD_exome_AFR=0.3302;gnomAD_exome_AMR=0.2705;gnomAD_exome_ASJ=0.2344;gnomAD_exome_EAS=0.4346;gnomAD_exome_FIN=0.2899;gnomAD_exome_NFE=0.2253;gnomAD_exome_OTH=0.2610;gnomAD_exome_SAS=0.3006;gnomAD_genome_ALL=0.2719;gnomAD_genome_AFR=0.3228;gnomAD_genome_AMR=0.2524;gnomAD_genome_ASJ=0.2067;gnomAD_genome_EAS=0.4294;gnomAD_genome_FIN=0.2984;gnomAD_genome_NFE=0.2232;gnomAD_genome_OTH=0.2459;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . 1/1:38:0,38 1:44:0,23 . 1:28:0,15 1:34:0,17 1:27:0,16 1:51:0,27 1:47:0,16 . 1:65:0,32 1:35:0,16 1:46:0,25 1:47:0,27 1:66:0,27 1:45:0,29 . 1:46:0,18 . 1:46:0,18 . 1:47:0,22 . 1:54:0,23 . . 1:44:0,21 . . . . . . 1:49:0,24 1:47:0,29 . . 1/1:50:0,50 1:42:0,18 . . 1:54:0,25 6 129635800 92952;rs2306942 G A 200.00 . #_unique_end_positions=,25;#_unique_start_positions=,24;AC=4;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2186;AF_ESP_clinvar_20171029_hg19=,0.0911;AF_EXAC_clinvar_20171029_hg19=,0.06873;AF_TGP_clinvar_20171029_hg19=,0.1200;ALLELEID_clinvar_20171029_hg19=,98859;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0562;AN=4;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001073291.1:p.Val1138Met|_NP_000417.2:p.Val1138Met;Amino_acid_change_in_longest_transcript=,NP_000417.2:p.Val1138Met;BaseQRankSum=,-0.45;CAF_dbsnp_common_v150_hg19_refseq=,0.88|0.12;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374|MedGen:CN239326;CLNDN_clinvar_20171029_hg19=,not_specified|Congenital_Muscular_Dystrophy|_LAMA2-related;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.129635800G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,HGMD:CM087682|Illumina_Clinical_Services_Laboratory|Illumina:40874|UniProtKB_(protein):P24043#VAR_047716;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000426.3:c.3412G>A|_NM_001079823.1:c.3412G>A;Coding_region_change_in_longest_transcript=,NM_000426.3:c.3412G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1111;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0427;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,49;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,LAMA2:3908;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:3908;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:3908;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:6482;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:6482;Homo_sapiens_refseq_GRCh37.p13_Genes=,LAMA2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001079823.1|NM_000426.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene14812;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21260|rna21259;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:156225;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:156225;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene14812;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,129635800;RS_dbsnp_common_v150_hg19_refseq=,2306942;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,33;Read_coverage=,78;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9651011421510334;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001079823.1|NM_000426.3;Reverse_read_coverage=,29;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1207;SF=12,15,21,39;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.886565|0.113435;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128000a0515053f000101;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.173469;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.025;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.097561;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.2;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.126437;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.122222;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.155556;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.235955;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.11;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.195804;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.0340909;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.191667;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:3908|HGNC:HGNC:6482|MIM:156225;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:01125;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001079823.1|HPRD:01125|Genbank:NM_000426.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,laminin_subunit_alpha_2;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LAMA2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,LAMA2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LAMM;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,laminin_subunit_alpha_2|_transcript_variant_2|laminin_subunit_alpha_2|_transcript_variant_1;transcript_id=,NM_001079823.1|NM_000426.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA2:NM_000426:exon24:c.G3412A:p.V1138M,LAMA2:NM_001079823:exon24:c.G3412A:p.V1138M;cytoBand=6q22.33;genomicSuperDups=.;esp6500siv2_all=0.0911;esp6500siv2_ea=0.0469;esp6500siv2_all=0.0911;esp6500siv2_ea=0.0469;1000g2015aug_all=0.120008;avsnp147=rs2306942;Kaviar_AF=0.066047;Kaviar_AC=10211;Kaviar_AN=154602;ExAC_ALL=0.0687;ExAC_AFR=0.1937;ExAC_AMR=0.0500;ExAC_EAS=0.1486;ExAC_FIN=0.0308;ExAC_NFE=0.0415;ExAC_OTH=0.0668;ExAC_SAS=0.0868;CLNALLELEID=98859;CLNDN=Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related;CLNDISDB=MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.07;SIFT_pred=T;Polyphen2_HDIV_score=0.018;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.048;Polyphen2_HVAR_pred=B;LRT_score=0.010;LRT_pred=N;MutationTaster_score=0.002;MutationTaster_pred=P;MutationAssessor_score=1.68;MutationAssessor_pred=L;FATHMM_score=0.55;FATHMM_pred=T;PROVEAN_score=-0.43;PROVEAN_pred=N;VEST3_score=0.046;CADD_raw=2.722;CADD_phred=20.9;DANN_score=0.997;fathmm-MKL_coding_score=0.908;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.053;MetaSVM_pred=T;MetaLR_score=0.069;MetaLR_pred=T;integrated_fitCons_score=0.615;integrated_confidence_value=0;GERP++_RS=4.72;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.996;phastCons20way_mammalian=0.980;SiPhy_29way_logOdds=8.921;GDI_full_10282015=.;dpsi_max_tissue=-0.1439;dpsi_zscore=-0.567;hgmdCODING=HGMD::Muscular_dystrophy,_merosin_deficient#19294599;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM087682#"Muscular_dystrophy_merosin_deficient";gnomAD_exome_ALL=0.0648;gnomAD_exome_AFR=0.1917;gnomAD_exome_AMR=0.0492;gnomAD_exome_ASJ=0.0507;gnomAD_exome_EAS=0.1491;gnomAD_exome_FIN=0.0301;gnomAD_exome_NFE=0.0427;gnomAD_exome_OTH=0.0604;gnomAD_exome_SAS=0.0826;gnomAD_genome_ALL=0.0849;gnomAD_genome_AFR=0.1852;gnomAD_genome_AMR=0.0632;gnomAD_genome_ASJ=0.0364;gnomAD_genome_EAS=0.1432;gnomAD_genome_FIN=0.0223;gnomAD_genome_NFE=0.0398;gnomAD_genome_OTH=0.0429;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . . . . 1:69:0,32 . . 1:64:0,31 . . . . . 1:76:0,33 . . . . . . . . . . . . . . . . . 1:72:0,34 . . 6 129636723 . C G 151.76 . #_unique_end_positions=,21;#_unique_start_positions=,18;AC=1;AN=1;Amino_acid_change=,NP_001073291.1:p.His1220Asp|_NP_000417.2:p.His1220Asp;Amino_acid_change_in_longest_transcript=,NP_000417.2:p.His1220Asp;BaseQRankSum=,0.0;Coding_region_change=,NM_000426.3:c.3658C>G|_NM_001079823.1:c.3658C>G;Coding_region_change_in_longest_transcript=,NM_000426.3:c.3658C>G;Forward_read_coverage=,39;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:3908;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:3908;Genotype=,C/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:6482;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:6482;Homo_sapiens_refseq_GRCh37.p13_Genes=,LAMA2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001079823.1|NM_000426.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene14812;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21260|rna21259;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:156225;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:156225;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene14812;QUAL=,151.7643851980736;Read_count=,26;Read_coverage=,63;Read_direction_test_probability=,0.6283974848225179;Read_position_test_probability=,0.7571447836191778;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001079823.1|NM_000426.3;Reverse_read_coverage=,24;SF=2;conservation_score=,0.012;db_xref=,GeneID:3908|HGNC:HGNC:6482|MIM:156225;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:01125;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001079823.1|HPRD:01125|Genbank:NM_000426.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,laminin_subunit_alpha_2;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LAMA2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,LAMA2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LAMM;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,laminin_subunit_alpha_2|_transcript_variant_2|laminin_subunit_alpha_2|_transcript_variant_1;transcript_id=,NM_001079823.1|NM_000426.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA2:NM_000426:exon25:c.C3658G:p.H1220D,LAMA2:NM_001079823:exon25:c.C3658G:p.H1220D;cytoBand=6q22.33;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.948;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=-0.53;MutationAssessor_pred=N;FATHMM_score=1.57;FATHMM_pred=T;PROVEAN_score=3.31;PROVEAN_pred=N;VEST3_score=0.158;CADD_raw=-2.769;CADD_phred=0.001;DANN_score=0.399;fathmm-MKL_coding_score=0.066;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.930;MetaSVM_pred=T;MetaLR_score=0.007;MetaLR_pred=T;integrated_fitCons_score=0.497;integrated_confidence_value=0;GERP++_RS=-9.03;phyloP7way_vertebrate=-0.699;phyloP20way_mammalian=-2.940;phastCons7way_vertebrate=0.888;phastCons20way_mammalian=0.000;SiPhy_29way_logOdds=13.076;GDI_full_10282015=.;dpsi_max_tissue=0.3872;dpsi_zscore=1.006;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . 1:55:0,23 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6 129663525 426986;rs148905630 G A 138.75 . #_unique_end_positions=,15;#_unique_start_positions=,14;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0015;ALLELEID_clinvar_20171029_hg19=,415026;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AN=1;Amino_acid_change=,NP_001073291.1:p.Arg1450Gln|_NP_000417.2:p.Arg1450Gln;Amino_acid_change_in_longest_transcript=,NP_000417.2:p.Arg1450Gln;BaseQRankSum=,-0.58;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.129663525G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_single_submitter;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;Coding_region_change=,NM_000426.3:c.4349G>A|_NM_001079823.1:c.4349G>A;Coding_region_change_in_longest_transcript=,NM_000426.3:c.4349G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;Exact_match=,clinvar_20171029_hg19|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,26;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:3908;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:3908;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:6482;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:6482;Homo_sapiens_refseq_GRCh37.p13_Genes=,LAMA2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001079823.1|NM_000426.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene14812;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21260|rna21259;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:156225;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:156225;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene14812;QUAL=,138.75408524143378;Read_count=,19;Read_coverage=,39;Read_direction_test_probability=,0.9642230991506056;Read_position_test_probability=,0.9307663260319419;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001079823.1|NM_000426.3;Reverse_read_coverage=,13;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=17;conservation_score=,0.955;db_xref=,GeneID:3908|HGNC:HGNC:6482|MIM:156225;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:01125;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001079823.1|HPRD:01125|Genbank:NM_000426.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,laminin_subunit_alpha_2;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LAMA2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,LAMA2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LAMM;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,laminin_subunit_alpha_2|_transcript_variant_2|laminin_subunit_alpha_2|_transcript_variant_1;transcript_id=,NM_001079823.1|NM_000426.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA2:NM_000426:exon30:c.G4349A:p.R1450Q,LAMA2:NM_001079823:exon30:c.G4349A:p.R1450Q;cytoBand=6q22.33;genomicSuperDups=.;esp6500siv2_all=0.0012;esp6500siv2_ea=.;esp6500siv2_all=0.0012;esp6500siv2_ea=.;1000g2015aug_all=0.000399361;avsnp147=rs148905630;Kaviar_AF=0.0002135;Kaviar_AC=33;Kaviar_AN=154602;ExAC_ALL=0.0003;ExAC_AFR=0.0028;ExAC_AMR=8.646e-05;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.499e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=415026;CLNDN=Laminin_alpha_2-related_dystrophy|not_specified;CLNDISDB=MedGen:CN117977|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.235;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.997;MutationTaster_pred=D;MutationAssessor_score=1.775;MutationAssessor_pred=L;FATHMM_score=0.06;FATHMM_pred=T;PROVEAN_score=-0.88;PROVEAN_pred=N;VEST3_score=0.241;CADD_raw=5.210;CADD_phred=25.6;DANN_score=0.998;fathmm-MKL_coding_score=0.817;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.730;MetaSVM_pred=T;MetaLR_score=0.237;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=3.8;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.994;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=11.466;GDI_full_10282015=.;dpsi_max_tissue=-1.2965;dpsi_zscore=-1.626;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0002;gnomAD_exome_AFR=0.0028;gnomAD_exome_AMR=0.0002;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=8.983e-06;gnomAD_exome_OTH=0.0004;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0011;gnomAD_genome_AFR=0.0039;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=5 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . 1:37:0,18 . . . . . . . . . . . . . . . . . . . . . . . . 6 129687396 92962;rs117781224 G A 200.00 . #_unique_end_positions=,33;#_unique_start_positions=,30;AC=3;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0023;AF_ESP_clinvar_20171029_hg19=,0.0247;AF_EXAC_clinvar_20171029_hg19=,0.01963;AF_TGP_clinvar_20171029_hg19=,0.0102;ALLELEID_clinvar_20171029_hg19=,98869;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0173;AN=3;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_000417.2:p.Gly1584Ser|_NP_001073291.1:p.Gly1584Ser;Amino_acid_change_in_longest_transcript=,NP_000417.2:p.Gly1584Ser;BaseQRankSum=,-0.01;CAF_dbsnp_common_v150_hg19_refseq=,0.9898|0.01018|.;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.129687396G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,HGMD:CM030232;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000426.3:c.4750G>A|_NM_001079823.1:c.4750G>A;Coding_region_change_in_longest_transcript=,NM_000426.3:c.4750G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0318;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,64;GENEINFO_dbsnp_common_v150_hg19_refseq=,LAMA2:3908;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:3908;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:3908;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:6482;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:6482;Homo_sapiens_refseq_GRCh37.p13_Genes=,LAMA2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001079823.1|NM_000426.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene14812;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21260|rna21259;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:156225;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:156225;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene14812;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,129687396;RS_dbsnp_common_v150_hg19_refseq=,117781224;Read_count=,45;Read_coverage=,93;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9111476604141212;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001079823.1|NM_000426.3;Reverse_read_coverage=,29;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0041;SF=20,32,34;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.983515|0.0164846|.;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128000a05140436000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.985;db_xref=,GeneID:3908|HGNC:HGNC:6482|MIM:156225;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:01125;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001079823.1|HPRD:01125|Genbank:NM_000426.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,laminin_subunit_alpha_2;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LAMA2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,LAMA2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LAMM;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,laminin_subunit_alpha_2|_transcript_variant_2|laminin_subunit_alpha_2|_transcript_variant_1;transcript_id=,NM_001079823.1|NM_000426.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA2:NM_000426:exon33:c.G4750A:p.G1584S,LAMA2:NM_001079823:exon33:c.G4750A:p.G1584S;cytoBand=6q22.33;genomicSuperDups=.;esp6500siv2_all=0.0247;esp6500siv2_ea=0.0330;esp6500siv2_all=0.0247;esp6500siv2_ea=0.0330;1000g2015aug_all=0.0101837;avsnp147=rs117781224;Kaviar_AF=0.020362;Kaviar_AC=3148;Kaviar_AN=154602;ExAC_ALL=0.0196;ExAC_AFR=0.0066;ExAC_AMR=0.0095;ExAC_EAS=0;ExAC_FIN=0.0117;ExAC_NFE=0.0290;ExAC_OTH=0.0110;ExAC_SAS=0.0110;CLNALLELEID=98869;CLNDN=Laminin_alpha_2-related_dystrophy|not_specified;CLNDISDB=MedGen:CN117977|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.263;SIFT_pred=T;Polyphen2_HDIV_score=0.039;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.005;Polyphen2_HVAR_pred=B;LRT_score=0.004;LRT_pred=N;MutationTaster_score=0.928;MutationTaster_pred=N;MutationAssessor_score=0.35;MutationAssessor_pred=N;FATHMM_score=1.52;FATHMM_pred=T;PROVEAN_score=0.08;PROVEAN_pred=N;VEST3_score=0.041;CADD_raw=2.753;CADD_phred=21.1;DANN_score=0.982;fathmm-MKL_coding_score=0.509;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.015;MetaSVM_pred=T;MetaLR_score=0.015;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=3.49;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.076;phastCons7way_vertebrate=0.996;phastCons20way_mammalian=0.994;SiPhy_29way_logOdds=6.326;GDI_full_10282015=.;dpsi_max_tissue=-1.1129;dpsi_zscore=-1.536;hgmdCODING=HGMD::Laminin_alpha_2_chain_deficiency,_partial#12552556;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM030232#"Laminin_alpha_2_chain_deficiency_partial";gnomAD_exome_ALL=0.0195;gnomAD_exome_AFR=0.0061;gnomAD_exome_AMR=0.0114;gnomAD_exome_ASJ=0.0231;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0.0113;gnomAD_exome_NFE=0.0301;gnomAD_exome_OTH=0.0199;gnomAD_exome_SAS=0.0124;gnomAD_genome_ALL=0.0176;gnomAD_genome_AFR=0.0055;gnomAD_genome_AMR=0.0084;gnomAD_genome_ASJ=0.0232;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0117;gnomAD_genome_NFE=0.0282;gnomAD_genome_OTH=0.0194;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . 1:88:0,43 . . . . . . . . . . . 1:67:0,30 . 1:69:0,39 . . . . . . . 6 129691132 92963;rs17057184 C G 110.74 . #_unique_end_positions=,11;#_unique_start_positions=,10;AC=7;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1104;AF_ESP_clinvar_20171029_hg19=,0.0790;AF_EXAC_clinvar_20171029_hg19=,0.08567;AF_TGP_clinvar_20171029_hg19=,0.0967;ALLELEID_clinvar_20171029_hg19=,98870;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1484;AN=7;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.9034|0.09665;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374|MedGen:CN239326;CLNDN_clinvar_20171029_hg19=,not_specified|Congenital_Muscular_Dystrophy|_LAMA2-related;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.129691132C>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:40896;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000426.3:c.4956C>G|_NM_001079823.1:c.4956C>G;Coding_region_change_in_longest_transcript=,NM_000426.3:c.4956C>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0466;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0706;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,14;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,LAMA2:3908;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:3908;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:3908;Genotype=,C/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:6482;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:6482;Homo_sapiens_refseq_GRCh37.p13_Genes=,LAMA2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001079823.1|NM_000426.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene14812;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21260|rna21259;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:156225;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:156225;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene14812;QUAL=,85.06417605380386;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,129691132;RS_dbsnp_common_v150_hg19_refseq=,17057184;Read_count=,13;Read_coverage=,35;Read_direction_test_probability=,0.7170581911367715;Read_position_test_probability=,0.8441732094813507;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001079823.1|NM_000426.3;Reverse_read_coverage=,21;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1196;SF=1,7,21,23,38,39,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.914452|0.0855485;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128000305150537000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.075;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0333333;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0444444;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.075;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:3908|HGNC:HGNC:6482|MIM:156225;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:01125;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001079823.1|HPRD:01125|Genbank:NM_000426.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,laminin_subunit_alpha_2;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LAMA2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,LAMA2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LAMM;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,laminin_subunit_alpha_2|_transcript_variant_2|laminin_subunit_alpha_2|_transcript_variant_1;transcript_id=,NM_001079823.1|NM_000426.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMA2:NM_000426:exon34:c.C4956G:p.T1652T,LAMA2:NM_001079823:exon34:c.C4956G:p.T1652T;cytoBand=6q22.33;genomicSuperDups=.;esp6500siv2_all=0.0790;esp6500siv2_ea=0.0615;esp6500siv2_all=0.0790;esp6500siv2_ea=0.0615;1000g2015aug_all=0.0966454;avsnp147=rs17057184;Kaviar_AF=0.0823793;Kaviar_AC=12736;Kaviar_AN=154602;ExAC_ALL=0.0857;ExAC_AFR=0.1111;ExAC_AMR=0.1919;ExAC_EAS=0.0303;ExAC_FIN=0.0477;ExAC_NFE=0.0631;ExAC_OTH=0.1020;ExAC_SAS=0.1298;CLNALLELEID=98870;CLNDN=Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related;CLNDISDB=MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.5746;dpsi_zscore=1.205;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0885;gnomAD_exome_AFR=0.1080;gnomAD_exome_AMR=0.1894;gnomAD_exome_ASJ=0.0846;gnomAD_exome_EAS=0.0298;gnomAD_exome_FIN=0.0488;gnomAD_exome_NFE=0.0602;gnomAD_exome_OTH=0.0948;gnomAD_exome_SAS=0.1324;gnomAD_genome_ALL=0.0712;gnomAD_genome_AFR=0.1062;gnomAD_genome_AMR=0.1635;gnomAD_genome_ASJ=0.0993;gnomAD_genome_EAS=0.0277;gnomAD_genome_FIN=0.0524;gnomAD_genome_NFE=0.0541;gnomAD_genome_OTH=0.0713;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . 1:33:0,13 . . . . . 1:33:0,14 . . . . . . . . . . . . . 1:40:0,13 . 1:42:0,25 . . . . . . . . . . . . . . 1:31:0,15 1:44:0,21 . 1:44:0,20 6 129722389 92966;rs3749877 A G 87.26 . #_unique_end_positions=,10;#_unique_start_positions=,9;AC=48;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6581;AF_EXAC_clinvar_20171029_hg19=,0.49785;ALLELEID_clinvar_20171029_hg19=,98873;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4683;AN=48;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.38;CAF_dbsnp_common_v150_hg19_refseq=,0.4555|0.5445;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374|MedGen:CN239326;CLNDN_clinvar_20171029_hg19=,not_specified|Congenital_Muscular_Dystrophy|_LAMA2-related;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.129722389A>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:40885;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000426.3:c.5466A>G|_NM_001079823.1:c.5466A>G;Coding_region_change_in_longest_transcript=,NM_000426.3:c.5466A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5516;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4632;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,19;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,LAMA2:3908;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:3908;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:3908;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:6482;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:6482;Homo_sapiens_refseq_GRCh37.p13_Genes=,LAMA2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001079823.1|NM_000426.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene14812;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21260|rna21259;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:156225;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:156225;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene14812;QUAL=,83.22126950657137;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,129722389;RS_dbsnp_common_v150_hg19_refseq=,3749877;Read_count=,13;Read_coverage=,36;Read_direction_test_probability=,0.9594005256859295;Read_position_test_probability=,0.8568323316438774;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001079823.1|NM_000426.3;Reverse_read_coverage=,17;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5215;SF=0,1,2,3,4,7,8,11,12,13,14,16,17,18,19,20,21,22,23,25,26,27,28,29,30,31,32,33,34,36,37,38,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.46418|0.53582;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05012800030517053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.653061;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.473451;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.609756;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.6;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.551136;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.488372;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.488372;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.766667;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.54;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.727273;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.465909;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.663717;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.941;db_xref=,GeneID:3908|HGNC:HGNC:6482|MIM:156225;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:01125;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001079823.1|HPRD:01125|Genbank:NM_000426.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,laminin_subunit_alpha_2;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LAMA2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,LAMA2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LAMM;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,laminin_subunit_alpha_2|_transcript_variant_2|laminin_subunit_alpha_2|_transcript_variant_1;transcript_id=,NM_001079823.1|NM_000426.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMA2:NM_000426:exon38:c.A5466G:p.E1822E,LAMA2:NM_001079823:exon38:c.A5466G:p.E1822E;cytoBand=6q22.33;genomicSuperDups=.;esp6500siv2_all=0.5161;esp6500siv2_ea=0.4653;esp6500siv2_all=0.5161;esp6500siv2_ea=0.4653;1000g2015aug_all=0.544529;avsnp147=rs3749877;Kaviar_AF=0.489541;Kaviar_AC=75684;Kaviar_AN=154602;ExAC_ALL=0.4978;ExAC_AFR=0.6222;ExAC_AMR=0.4696;ExAC_EAS=0.5674;ExAC_FIN=0.4626;ExAC_NFE=0.4678;ExAC_OTH=0.5066;ExAC_SAS=0.5381;CLNALLELEID=98873;CLNDN=Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related;CLNDISDB=MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0934;dpsi_zscore=-0.429;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.4937;gnomAD_exome_AFR=0.6223;gnomAD_exome_AMR=0.4731;gnomAD_exome_ASJ=0.5400;gnomAD_exome_EAS=0.5730;gnomAD_exome_FIN=0.4594;gnomAD_exome_NFE=0.4610;gnomAD_exome_OTH=0.4763;gnomAD_exome_SAS=0.5391;gnomAD_genome_ALL=0.5112;gnomAD_genome_AFR=0.6206;gnomAD_genome_AMR=0.4845;gnomAD_genome_ASJ=0.5705;gnomAD_genome_EAS=0.5824;gnomAD_genome_FIN=0.4613;gnomAD_genome_NFE=0.4523;gnomAD_genome_OTH=0.5051;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:30:0,12 1:27:0,14 1/1:28:0,28 1:29:0,13 1:23:0,11 . . 1:24:0,6 1:33:0,11 . . 1/1:33:0,33 1/1:19:0,19 1/1:25:0,25 1:43:0,19 . 1:41:0,24 1:33:0,16 1:33:0,14 1:19:0,7 1:41:0,18 1/1:24:0,24 1/1:25:0,25 1:27:0,9 . 1:18:0,7 1/1:21:0,21 1/1:40:0,40 1:37:0,12 1/1:28:0,28 1:19:0,12 1:19:0,9 1/1:23:0,23 1:17:0,3 1/1:30:0,30 . 1:28:0,13 1/1:23:0,23 1:16:0,8 1:26:0,6 1/1:15:0,15 1:28:0,11 6 129722425 92967;rs3749878 G A 106.37 . #_unique_end_positions=,13;#_unique_start_positions=,12;AC=47;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6581;AF_EXAC_clinvar_20171029_hg19=,0.49628;ALLELEID_clinvar_20171029_hg19=,98874;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4683;AN=47;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.2;CAF_dbsnp_common_v150_hg19_refseq=,0.4567|0.5433;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374|MedGen:CN239326;CLNDN_clinvar_20171029_hg19=,not_specified|Congenital_Muscular_Dystrophy|_LAMA2-related;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.129722425G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:40890;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000426.3:c.5502G>A|_NM_001079823.1:c.5502G>A;Coding_region_change_in_longest_transcript=,NM_000426.3:c.5502G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5466;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4622;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,29;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,LAMA2:3908;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:3908;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:3908;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:6482;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:6482;Homo_sapiens_refseq_GRCh37.p13_Genes=,LAMA2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001079823.1|NM_000426.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene14812;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21260|rna21259;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:156225;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:156225;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene14812;QUAL=,87.38623134655855;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,129722425;RS_dbsnp_common_v150_hg19_refseq=,3749878;Read_count=,16;Read_coverage=,50;Read_direction_test_probability=,0.8918097296791714;Read_position_test_probability=,0.9005148789931291;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001079823.1|NM_000426.3;Reverse_read_coverage=,21;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5215;SF=0,1,2,3,4,8,11,12,13,14,16,17,18,19,20,21,22,23,25,26,27,28,29,30,31,32,33,34,36,37,38,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.466241|0.533759;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05012800030517053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.653061;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.473451;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.609756;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.594118;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.551136;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.488372;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.482558;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.766667;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.54;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.727273;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.465909;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.663717;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.497;db_xref=,GeneID:3908|HGNC:HGNC:6482|MIM:156225;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:01125;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001079823.1|HPRD:01125|Genbank:NM_000426.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,laminin_subunit_alpha_2;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LAMA2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,LAMA2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LAMM;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,laminin_subunit_alpha_2|_transcript_variant_2|laminin_subunit_alpha_2|_transcript_variant_1;transcript_id=,NM_001079823.1|NM_000426.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMA2:NM_000426:exon38:c.G5502A:p.E1834E,LAMA2:NM_001079823:exon38:c.G5502A:p.E1834E;cytoBand=6q22.33;genomicSuperDups=.;esp6500siv2_all=0.5150;esp6500siv2_ea=0.4641;esp6500siv2_all=0.5150;esp6500siv2_ea=0.4641;1000g2015aug_all=0.543331;avsnp147=rs3749878;Kaviar_AF=0.487141;Kaviar_AC=75313;Kaviar_AN=154602;ExAC_ALL=0.4963;ExAC_AFR=0.6228;ExAC_AMR=0.4686;ExAC_EAS=0.5662;ExAC_FIN=0.4567;ExAC_NFE=0.4658;ExAC_OTH=0.5066;ExAC_SAS=0.5379;CLNALLELEID=98874;CLNDN=Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related;CLNDISDB=MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.2198;dpsi_zscore=0.760;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.4923;gnomAD_exome_AFR=0.6223;gnomAD_exome_AMR=0.4721;gnomAD_exome_ASJ=0.5401;gnomAD_exome_EAS=0.5721;gnomAD_exome_FIN=0.4557;gnomAD_exome_NFE=0.4592;gnomAD_exome_OTH=0.4748;gnomAD_exome_SAS=0.5389;gnomAD_genome_ALL=0.5089;gnomAD_genome_AFR=0.6208;gnomAD_genome_AMR=0.4784;gnomAD_genome_ASJ=0.5667;gnomAD_genome_EAS=0.5815;gnomAD_genome_FIN=0.4559;gnomAD_genome_NFE=0.4496;gnomAD_genome_OTH=0.5020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:42:0,15 1:30:0,18 1/1:32:0,32 1:41:0,18 1:23:0,10 . . . 1:41:0,14 . . 1/1:33:0,33 1/1:26:0,26 1/1:38:0,38 1:63:0,25 . 1:49:0,27 1:37:0,17 1:34:0,17 1:21:0,9 1:44:0,20 1/1:27:0,27 1/1:31:0,31 1:38:0,19 . 1:21:0,9 1/1:25:0,25 1/1:46:0,46 1:47:0,17 1/1:31:0,31 1:32:0,17 1:23:0,7 1/1:26:0,26 1:22:0,5 1/1:38:0,38 . 1:29:0,14 1/1:23:0,23 1:23:0,11 1:30:0,9 1/1:21:0,21 1:30:0,13 6 129762042 129439;rs73775407 C A 200.00 . #_unique_end_positions=,20;#_unique_start_positions=,19;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1097;AF_ESP_clinvar_20171029_hg19=,0.0298;AF_EXAC_clinvar_20171029_hg19=,0.00815;AF_TGP_clinvar_20171029_hg19=,0.0304;ALLELEID_clinvar_20171029_hg19=,134885;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0101;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_000417.2:p.Thr2056Lys|_NP_001073291.1:p.Thr2056Lys;Amino_acid_change_in_longest_transcript=,NP_000417.2:p.Thr2056Lys;BaseQRankSum=,0.22;CAF_dbsnp_common_v150_hg19_refseq=,0.9696|0.03035;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374|MedGen:CN239326;CLNDN_clinvar_20171029_hg19=,not_specified|Congenital_Muscular_Dystrophy|_LAMA2-related;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.129762042C>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:548812;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000426.3:c.6167C>A|_NM_001079823.1:c.6167C>A;Coding_region_change_in_longest_transcript=,NM_000426.3:c.6167C>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,37;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,LAMA2:3908;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:3908;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:3908;Genotype=,A/C;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:6482;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:6482;Homo_sapiens_refseq_GRCh37.p13_Genes=,LAMA2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001079823.1|NM_000426.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene14812;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21260|rna21259;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:156225;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:156225;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene14812;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,129762042;RS_dbsnp_common_v150_hg19_refseq=,73775407;Read_count=,25;Read_coverage=,56;Read_direction_test_probability=,0.8789773851521633;Read_position_test_probability=,0.8370201232603585;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001079823.1|NM_000426.3;Reverse_read_coverage=,19;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=17;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.961124|0.0388763;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050160000a0515053e100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.909;db_xref=,GeneID:3908|HGNC:HGNC:6482|MIM:156225;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:01125;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001079823.1|HPRD:01125|Genbank:NM_000426.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,laminin_subunit_alpha_2;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LAMA2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,LAMA2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LAMM;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,laminin_subunit_alpha_2|_transcript_variant_2|laminin_subunit_alpha_2|_transcript_variant_1;transcript_id=,NM_001079823.1|NM_000426.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA2:NM_000426:exon43:c.C6167A:p.T2056K,LAMA2:NM_001079823:exon43:c.C6167A:p.T2056K;cytoBand=6q22.33;genomicSuperDups=.;esp6500siv2_all=0.0298;esp6500siv2_ea=0.0002;esp6500siv2_all=0.0298;esp6500siv2_ea=0.0002;1000g2015aug_all=0.0303514;avsnp147=rs73775407;Kaviar_AF=0.0079042;Kaviar_AC=1222;Kaviar_AN=154602;ExAC_ALL=0.0082;ExAC_AFR=0.0885;ExAC_AMR=0.0042;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0002;ExAC_OTH=0.0066;ExAC_SAS=0;CLNALLELEID=134885;CLNDN=Laminin_alpha_2-related_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related;CLNDISDB=MedGen:CN117977|MedGen:CN169374|MedGen:CN239326;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.011;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=N;MutationAssessor_score=-0.84;MutationAssessor_pred=N;FATHMM_score=2.05;FATHMM_pred=T;PROVEAN_score=1.08;PROVEAN_pred=N;VEST3_score=0.114;CADD_raw=1.020;CADD_phred=10.78;DANN_score=0.795;fathmm-MKL_coding_score=0.185;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.927;MetaSVM_pred=T;MetaLR_score=0.004;MetaLR_pred=T;integrated_fitCons_score=0.616;integrated_confidence_value=0;GERP++_RS=1.84;phyloP7way_vertebrate=0.127;phyloP20way_mammalian=-0.259;phastCons7way_vertebrate=0.993;phastCons20way_mammalian=0.237;SiPhy_29way_logOdds=5.142;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0066;gnomAD_exome_AFR=0.0949;gnomAD_exome_AMR=0.0040;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0002;gnomAD_exome_OTH=0.0024;gnomAD_exome_SAS=0.0001;gnomAD_genome_ALL=0.0255;gnomAD_genome_AFR=0.0882;gnomAD_genome_AMR=0.0084;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0005;gnomAD_genome_OTH=0.0051;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . 1:52:0,24 . . . . . . . . . . . . . . . . . . . . . . . . 6 129762112 92975;rs2297738 G A 137.11 . #_unique_end_positions=,16;#_unique_start_positions=,15;AC=11;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1536;AF_ESP_clinvar_20171029_hg19=,0.1390;AF_EXAC_clinvar_20171029_hg19=,0.16825;AF_TGP_clinvar_20171029_hg19=,0.1825;ALLELEID_clinvar_20171029_hg19=,98882;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2334;AN=11;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.64;CAF_dbsnp_common_v150_hg19_refseq=,0.8175|0.1825;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374|MedGen:CN239326;CLNDN_clinvar_20171029_hg19=,not_specified|Congenital_Muscular_Dystrophy|_LAMA2-related;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.129762112G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:40907;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000426.3:c.6237G>A|_NM_001079823.1:c.6237G>A;Coding_region_change_in_longest_transcript=,NM_000426.3:c.6237G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2202;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1551;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,29;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,LAMA2:3908;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:3908;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:3908;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:6482;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:6482;Homo_sapiens_refseq_GRCh37.p13_Genes=,LAMA2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001079823.1|NM_000426.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene14812;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21260|rna21259;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:156225;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:156225;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene14812;QUAL=,120.15669957946231;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,129762112;RS_dbsnp_common_v150_hg19_refseq=,2297738;Read_count=,20;Read_coverage=,53;Read_direction_test_probability=,0.9919884957468927;Read_position_test_probability=,0.9476410211356484;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001079823.1|NM_000426.3;Reverse_read_coverage=,24;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1748;SF=0,3,5,6,9,15,16,24,28,30,35;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.847002|0.152998;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05012800030517053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.122449;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.132743;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.243902;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.229412;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.142045;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.139535;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.186047;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.1;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.214286;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.102837;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.142045;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.155172;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:3908|HGNC:HGNC:6482|MIM:156225;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:01125;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001079823.1|HPRD:01125|Genbank:NM_000426.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,laminin_subunit_alpha_2;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LAMA2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,LAMA2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LAMM;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,laminin_subunit_alpha_2|_transcript_variant_2|laminin_subunit_alpha_2|_transcript_variant_1;transcript_id=,NM_001079823.1|NM_000426.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMA2:NM_000426:exon43:c.G6237A:p.T2079T,LAMA2:NM_001079823:exon43:c.G6237A:p.T2079T;cytoBand=6q22.33;genomicSuperDups=.;esp6500siv2_all=0.1390;esp6500siv2_ea=0.1457;esp6500siv2_all=0.1390;esp6500siv2_ea=0.1457;1000g2015aug_all=0.182508;avsnp147=rs2297738;Kaviar_AF=0.1658;Kaviar_AC=25633;Kaviar_AN=154602;ExAC_ALL=0.1683;ExAC_AFR=0.1391;ExAC_AMR=0.2274;ExAC_EAS=0.2160;ExAC_FIN=0.2155;ExAC_NFE=0.1514;ExAC_OTH=0.1689;ExAC_SAS=0.1700;CLNALLELEID=98882;CLNDN=not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related;CLNDISDB=MedGen:CN169374|MedGen:CN239326;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1730;gnomAD_exome_AFR=0.1367;gnomAD_exome_AMR=0.2205;gnomAD_exome_ASJ=0.1117;gnomAD_exome_EAS=0.2162;gnomAD_exome_FIN=0.2142;gnomAD_exome_NFE=0.1544;gnomAD_exome_OTH=0.1782;gnomAD_exome_SAS=0.1715;gnomAD_genome_ALL=0.1654;gnomAD_genome_AFR=0.1297;gnomAD_genome_AMR=0.1993;gnomAD_genome_ASJ=0.1258;gnomAD_genome_EAS=0.2135;gnomAD_genome_FIN=0.2033;gnomAD_genome_NFE=0.1698;gnomAD_genome_OTH=0.1864;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:44:0,18 . . 1:53:0,28 . 1:44:0,16 1:34:0,11 . . 1:43:0,21 . . . . . 1:59:0,26 1:54:0,24 . . . . . . . 1:55:0,20 . . . 1:46:0,17 . 1:49:0,20 . . . . 1:37:0,23 . . . . . . 6 129763368 rs57738384 A G 41.42 . #_unique_end_positions=,7;#_unique_start_positions=,6;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1104;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0101;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.9694|0.03055;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000426.3:c.6269-840A>G|_NM_001079823.1:c.6269-840A>G;Coding_region_change_in_longest_transcript=,NM_000426.3:c.6269-840A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,11;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,LAMA2:3908;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:3908;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:6482;Homo_sapiens_refseq_GRCh37.p13_Genes=,LAMA2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene14812;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:156225;Non-synonymous=,-;Other_variants_within_codon=,No;QUAL=,41.41866240282749;RSPOS_dbsnp_common_v150_hg19_refseq=,129763368;RS_dbsnp_common_v150_hg19_refseq=,57738384;Read_count=,9;Read_coverage=,24;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9416686828192444;Reverse_read_coverage=,13;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=17;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.961295|0.0387046;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05010008000515053e000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.0;db_xref=,GeneID:3908|HGNC:HGNC:6482|MIM:156225;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:01125;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,laminin_subunit_alpha_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LAMA2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LAMM;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMA2:NM_000426:exon44:c.A6270G:p.K2090K,LAMA2:NM_001079823:exon44:c.A6270G:p.K2090K;cytoBand=6q22.33;genomicSuperDups=.;esp6500siv2_all=0.0258;esp6500siv2_ea=0.0003;esp6500siv2_all=0.0258;esp6500siv2_ea=0.0003;1000g2015aug_all=0.0305511;avsnp147=rs57738384;Kaviar_AF=0.0058473;Kaviar_AC=904;Kaviar_AN=154602;ExAC_ALL=0.0142;ExAC_AFR=0.1167;ExAC_AMR=0.0108;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0004;ExAC_OTH=0.0078;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0062;gnomAD_exome_AFR=0.0928;gnomAD_exome_AMR=0.0039;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0003;gnomAD_exome_OTH=0.0024;gnomAD_exome_SAS=0.0001;gnomAD_genome_ALL=0.0255;gnomAD_genome_AFR=0.0881;gnomAD_genome_AMR=0.0084;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0005;gnomAD_genome_OTH=0.0051;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . 1:22:0,7 . . . . . . . . . . . . . . . . . . . . . . . . 6 129777560 355292;rs56209257 C T 104.42 . #_unique_end_positions=,14;#_unique_start_positions=,11;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0113;AF_ESP_clinvar_20171029_hg19=,0.0035;AF_EXAC_clinvar_20171029_hg19=,0.00096;AF_TGP_clinvar_20171029_hg19=,0.0030;ALLELEID_clinvar_20171029_hg19=,305976;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_000417.2:p.Thr2263Met|_NP_001073291.1:p.Thr2263Met;Amino_acid_change_in_longest_transcript=,NP_000417.2:p.Thr2263Met;BaseQRankSum=,-0.67;CAF_dbsnp_common_v150_hg19_refseq=,0.997|0.002995;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374|MedGen:CN239326;CLNDN_clinvar_20171029_hg19=,not_specified|Congenital_Muscular_Dystrophy|_LAMA2-related;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.129777560C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_conflicting_interpretations;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:455642;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000426.3:c.6788C>T|_NM_001079823.1:c.6788C>T;Coding_region_change_in_longest_transcript=,NM_000426.3:c.6788C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,17;GENEINFO_dbsnp_common_v150_hg19_refseq=,LAMA2:3908;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:3908;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:3908;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:6482;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:6482;Homo_sapiens_refseq_GRCh37.p13_Genes=,LAMA2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001079823.1|NM_000426.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene14812;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21260|rna21259;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:156225;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:156225;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene14812;QUAL=,104.4237246495738;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,129777560;RS_dbsnp_common_v150_hg19_refseq=,56209257;Read_count=,15;Read_coverage=,34;Read_direction_test_probability=,0.7418363590718111;Read_position_test_probability=,0.6186992622167911;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001079823.1|NM_000426.3;Reverse_read_coverage=,17;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=17;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.995776|0.00422419;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050300000a05040536000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.0;db_xref=,GeneID:3908|HGNC:HGNC:6482|MIM:156225;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:01125;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001079823.1|HPRD:01125|Genbank:NM_000426.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,laminin_subunit_alpha_2;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LAMA2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,LAMA2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LAMM;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,laminin_subunit_alpha_2|_transcript_variant_2|laminin_subunit_alpha_2|_transcript_variant_1;transcript_id=,NM_001079823.1|NM_000426.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA2:NM_000426:exon48:c.C6788T:p.T2263M,LAMA2:NM_001079823:exon48:c.C6788T:p.T2263M;cytoBand=6q22.33;genomicSuperDups=.;esp6500siv2_all=0.0035;esp6500siv2_ea=.;esp6500siv2_all=0.0035;esp6500siv2_ea=.;1000g2015aug_all=0.00299521;avsnp147=rs56209257;Kaviar_AF=0.0008926;Kaviar_AC=138;Kaviar_AN=154602;ExAC_ALL=0.0010;ExAC_AFR=0.0095;ExAC_AMR=0.0004;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0001;ExAC_OTH=0.0033;ExAC_SAS=0;CLNALLELEID=305976;CLNDN=Laminin_alpha_2-related_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related;CLNDISDB=MedGen:CN117977|MedGen:CN169374|MedGen:CN239326;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.111;SIFT_pred=T;Polyphen2_HDIV_score=0.872;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.271;Polyphen2_HVAR_pred=B;LRT_score=0.410;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0.975;MutationAssessor_pred=L;FATHMM_score=-0.99;FATHMM_pred=T;PROVEAN_score=-1.07;PROVEAN_pred=N;VEST3_score=0.029;CADD_raw=0.636;CADD_phred=8.400;DANN_score=0.989;fathmm-MKL_coding_score=0.025;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.911;MetaSVM_pred=T;MetaLR_score=0.106;MetaLR_pred=T;integrated_fitCons_score=0.615;integrated_confidence_value=0;GERP++_RS=-6.44;phyloP7way_vertebrate=-0.379;phyloP20way_mammalian=-0.844;phastCons7way_vertebrate=0.125;phastCons20way_mammalian=0.013;SiPhy_29way_logOdds=15.158;GDI_full_10282015=.;dpsi_max_tissue=-0.7091;dpsi_zscore=-1.277;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0009;gnomAD_exome_AFR=0.0100;gnomAD_exome_AMR=0.0008;gnomAD_exome_ASJ=0.0001;gnomAD_exome_EAS=5.803e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0002;gnomAD_exome_OTH=0.0007;gnomAD_exome_SAS=3.249e-05;gnomAD_genome_ALL=0.0026;gnomAD_genome_AFR=0.0091;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.665e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . 1:31:0,14 . . . . . . . . . . . . . . . . . . . . . . . . 6 129802516 . G A 200.00 . #_unique_end_positions=,23;#_unique_start_positions=,23;AC=1;AN=1;Amino_acid_change=,NP_001073291.1:p.Gly2557Ser|_NP_000417.2:p.Gly2561Ser;Amino_acid_change_in_longest_transcript=,NP_000417.2:p.Gly2561Ser;BaseQRankSum=,0.02;Coding_region_change=,NM_000426.3:c.7681G>A|_NM_001079823.1:c.7669G>A;Coding_region_change_in_longest_transcript=,NM_000426.3:c.7681G>A;Forward_read_coverage=,45;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:3908;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:3908;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:6482;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:6482;Homo_sapiens_refseq_GRCh37.p13_Genes=,LAMA2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001079823.1|NM_000426.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene14812;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21260|rna21259;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:156225;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:156225;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene14812;QUAL=,200.0;Read_count=,41;Read_coverage=,75;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.8786876569201392;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001079823.1|NM_000426.3;Reverse_read_coverage=,30;SF=5;conservation_score=,0.982;db_xref=,GeneID:3908|HGNC:HGNC:6482|MIM:156225;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:01125;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001079823.1|HPRD:01125|Genbank:NM_000426.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,laminin_subunit_alpha_2;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LAMA2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,LAMA2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LAMM;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,laminin_subunit_alpha_2|_transcript_variant_2|laminin_subunit_alpha_2|_transcript_variant_1;transcript_id=,NM_001079823.1|NM_000426.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA2:NM_001079823:exon54:c.G7669A:p.G2557S,LAMA2:NM_000426:exon55:c.G7681A:p.G2561S;cytoBand=6q22.33;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs200341138;Kaviar_AF=9.7e-05;Kaviar_AC=15;Kaviar_AN=154602;ExAC_ALL=0.0001;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0002;ExAC_OTH=0;ExAC_SAS=0.0001;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=1.0;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.69;MutationAssessor_pred=M;FATHMM_score=-2.58;FATHMM_pred=D;PROVEAN_score=-4.58;PROVEAN_pred=D;VEST3_score=0.962;CADD_raw=6.690;CADD_phred=32;DANN_score=0.998;fathmm-MKL_coding_score=0.997;fathmm-MKL_coding_pred=D;MetaSVM_score=0.727;MetaSVM_pred=D;MetaLR_score=0.820;MetaLR_pred=D;integrated_fitCons_score=0.638;integrated_confidence_value=0;GERP++_RS=5.22;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.953;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=0.994;SiPhy_29way_logOdds=19.151;GDI_full_10282015=.;dpsi_max_tissue=-1.6428;dpsi_zscore=-1.774;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=9.35e-05;gnomAD_exome_AFR=6.536e-05;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0001;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0.0002;gnomAD_genome_ALL=6.46e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.664e-05;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=8 GT:DP:CLCAD2 . . . . . 1:61:0,32 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6 129807629 167247;rs2229848 C T 184.37 . #_unique_end_positions=,48;#_unique_start_positions=,37;AC=66;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4100;ALLELEID_clinvar_20171029_hg19=,177814;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6239;AN=66;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_000417.2:p.Ala2587Val|_NP_001073291.1:p.Ala2583Val;Amino_acid_change_in_longest_transcript=,NP_000417.2:p.Ala2587Val;BaseQRankSum=,0.21;CAF_dbsnp_common_v150_hg19_refseq=,0.4161|0.5839;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.129807629C>T;CLNREVSTAT_clinvar_20171029_hg19=,no_assertion_criteria_provided;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000426.3:c.7760C>T|_NM_001079823.1:c.7748C>T;Coding_region_change_in_longest_transcript=,NM_000426.3:c.7760C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6369;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7177;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,51;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,LAMA2:3908;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:3908;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:3908;Genotype=,T/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:6482;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:6482;Homo_sapiens_refseq_GRCh37.p13_Genes=,LAMA2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001079823.1|NM_000426.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene14812;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21260|rna21259;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:156225;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:156225;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene14812;QUAL=,156.53559774527022;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,129807629;RS_dbsnp_common_v150_hg19_refseq=,2229848;Read_count=,68;Read_coverage=,68;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001079823.1|NM_000426.3;Reverse_read_coverage=,17;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5982;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.387527|0.612473;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050100000a0517053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.408163;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.741667;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.585366;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.595238;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.630682;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.666667;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.611111;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.5;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.63;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.573427;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.75;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.416667;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.976;db_xref=,GeneID:3908|HGNC:HGNC:6482|MIM:156225;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:01125;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001079823.1|HPRD:01125|Genbank:NM_000426.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,laminin_subunit_alpha_2;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LAMA2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,LAMA2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LAMM;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,laminin_subunit_alpha_2|_transcript_variant_2|laminin_subunit_alpha_2|_transcript_variant_1;transcript_id=,NM_001079823.1|NM_000426.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA2:NM_001079823:exon55:c.C7748T:p.A2583V,LAMA2:NM_000426:exon56:c.C7760T:p.A2587V;cytoBand=6q22.33;genomicSuperDups=.;esp6500siv2_all=0.6386;esp6500siv2_ea=0.7265;esp6500siv2_all=0.6386;esp6500siv2_ea=0.7265;1000g2015aug_all=0.583866;avsnp147=rs2229848;Kaviar_AF=0.664092;Kaviar_AC=102670;Kaviar_AN=154602;ExAC_ALL=0.6678;ExAC_AFR=0.4567;ExAC_AMR=0.6736;ExAC_EAS=0.6090;ExAC_FIN=0.6464;ExAC_NFE=0.7148;ExAC_OTH=0.6803;ExAC_SAS=0.6458;CLNALLELEID=177814;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=0.056;SIFT_pred=T;Polyphen2_HDIV_score=0.998;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.965;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=2.32;MutationAssessor_pred=M;FATHMM_score=-1.2;FATHMM_pred=T;PROVEAN_score=-2.95;PROVEAN_pred=D;VEST3_score=0.862;CADD_raw=7.378;CADD_phred=34;DANN_score=0.999;fathmm-MKL_coding_score=0.956;fathmm-MKL_coding_pred=D;MetaSVM_score=0.056;MetaSVM_pred=D;MetaLR_score=0.584;MetaLR_pred=D;integrated_fitCons_score=0.638;integrated_confidence_value=0;GERP++_RS=5.6;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.807;phastCons7way_vertebrate=0.989;phastCons20way_mammalian=0.894;SiPhy_29way_logOdds=19.974;GDI_full_10282015=.;dpsi_max_tissue=-0.1505;dpsi_zscore=-0.582;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM023406#"Tuberculoid_leprosy_association_with";gnomAD_exome_ALL=0.6724;gnomAD_exome_AFR=0.4469;gnomAD_exome_AMR=0.6784;gnomAD_exome_ASJ=0.7520;gnomAD_exome_EAS=0.6059;gnomAD_exome_FIN=0.6458;gnomAD_exome_NFE=0.7167;gnomAD_exome_OTH=0.6793;gnomAD_exome_SAS=0.6479;gnomAD_genome_ALL=0.6270;gnomAD_genome_AFR=0.4529;gnomAD_genome_AMR=0.6878;gnomAD_genome_ASJ=0.7384;gnomAD_genome_EAS=0.6160;gnomAD_genome_FIN=0.6464;gnomAD_genome_NFE=0.7152;gnomAD_genome_OTH=0.6851;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 1/1:59:0,59 1:70:0,35 1:74:0,31 1/1:56:0,56 1/1:46:0,46 1/1:78:0,78 1/1:41:0,41 1/1:63:0,63 1/1:70:0,70 1:57:0,25 1/1:65:0,65 1/1:44:0,44 1/1:44:0,44 1/1:56:0,56 1:99:0,45 1:78:0,36 1:55:0,30 1:94:0,46 1/1:54:0,54 1/1:63:0,63 1:70:0,32 1/1:69:0,69 1/1:79:0,79 1:68:0,25 1:74:0,29 1:64:0,25 1/1:43:0,43 1:88:0,39 1:74:0,38 1:86:0,32 1:76:0,30 1/1:48:0,48 1/1:56:0,56 1/1:58:0,58 1/1:78:0,78 1:61:0,29 1/1:59:0,59 1/1:59:0,59 1:59:0,30 1:77:0,40 1/1:77:0,77 1/1:60:0,60 6 129807699 92987;rs2229849 G C 189.32 . #_unique_end_positions=,55;#_unique_start_positions=,42;AC=66;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4115;ALLELEID_clinvar_20171029_hg19=,98894;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6239;AN=66;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.21;CAF_dbsnp_common_v150_hg19_refseq=,0.4157|0.5843;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374|MedGen:CN239326;CLNDN_clinvar_20171029_hg19=,not_specified|Congenital_Muscular_Dystrophy|_LAMA2-related;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.129807699G>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:40901;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000426.3:c.7830G>C|_NM_001079823.1:c.7818G>C;Coding_region_change_in_longest_transcript=,NM_000426.3:c.7830G>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6369;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7177;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,48;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,LAMA2:3908;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:3908;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:3908;Genotype=,C/C;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:6482;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:6482;Homo_sapiens_refseq_GRCh37.p13_Genes=,LAMA2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001079823.1|NM_000426.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene14812;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21260|rna21259;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:156225;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:156225;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene14812;QUAL=,159.54589770191004;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,129807699;RS_dbsnp_common_v150_hg19_refseq=,2229849;Read_count=,78;Read_coverage=,78;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001079823.1|NM_000426.3;Reverse_read_coverage=,30;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5982;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.38629|0.61371;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05032800030517053e000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.015;db_xref=,GeneID:3908|HGNC:HGNC:6482|MIM:156225;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:01125;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001079823.1|HPRD:01125|Genbank:NM_000426.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,laminin_subunit_alpha_2;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LAMA2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,LAMA2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LAMM;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,laminin_subunit_alpha_2|_transcript_variant_2|laminin_subunit_alpha_2|_transcript_variant_1;transcript_id=,NM_001079823.1|NM_000426.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMA2:NM_001079823:exon55:c.G7818C:p.V2606V,LAMA2:NM_000426:exon56:c.G7830C:p.V2610V;cytoBand=6q22.33;genomicSuperDups=.;esp6500siv2_all=0.6400;esp6500siv2_ea=0.7266;esp6500siv2_all=0.6400;esp6500siv2_ea=0.7266;1000g2015aug_all=0.584265;avsnp147=rs2229849;Kaviar_AF=0.665295;Kaviar_AC=102856;Kaviar_AN=154602;ExAC_ALL=0.6682;ExAC_AFR=0.4587;ExAC_AMR=0.6739;ExAC_EAS=0.6102;ExAC_FIN=0.6461;ExAC_NFE=0.7149;ExAC_OTH=0.6788;ExAC_SAS=0.6458;CLNALLELEID=98894;CLNDN=Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related;CLNDISDB=MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0829;dpsi_zscore=-0.394;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.6727;gnomAD_exome_AFR=0.4496;gnomAD_exome_AMR=0.6785;gnomAD_exome_ASJ=0.7522;gnomAD_exome_EAS=0.6059;gnomAD_exome_FIN=0.6458;gnomAD_exome_NFE=0.7169;gnomAD_exome_OTH=0.6790;gnomAD_exome_SAS=0.6478;gnomAD_genome_ALL=0.6279;gnomAD_genome_AFR=0.4568;gnomAD_genome_AMR=0.6894;gnomAD_genome_ASJ=0.7384;gnomAD_genome_EAS=0.6113;gnomAD_genome_FIN=0.6461;gnomAD_genome_NFE=0.7153;gnomAD_genome_OTH=0.6857;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1/1:68:0,68 1:56:0,31 1:76:0,33 1/1:80:0,80 1/1:38:0,38 1/1:76:0,76 1/1:57:0,57 1/1:67:0,67 1/1:85:0,85 1:56:0,32 1/1:87:0,87 1/1:64:0,64 1/1:44:0,44 1/1:50:0,50 1:92:0,45 1:74:0,31 1:58:0,34 1:86:0,40 1/1:68:0,68 1/1:69:0,69 1:69:0,30 1/1:74:0,74 1/1:77:0,77 1:75:0,32 1:70:0,31 1:65:0,25 1/1:46:0,46 1:87:0,38 1:72:0,39 1:87:0,35 1:75:0,36 1/1:55:0,55 1/1:74:0,74 1/1:62:0,62 1/1:90:0,90 1:64:0,35 1/1:58:0,58 1/1:65:0,65 1:50:0,28 1:74:0,34 1/1:78:0,78 1/1:67:0,67 6 129807714 92988;rs2229850 G A 186.16 . #_unique_end_positions=,23;#_unique_start_positions=,19;AC=17;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5877;AF_ESP_clinvar_20171029_hg19=,0.3422;AF_EXAC_clinvar_20171029_hg19=,0.30799;AF_TGP_clinvar_20171029_hg19=,0.4038;ALLELEID_clinvar_20171029_hg19=,98895;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3646;AN=17;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.5962|0.4038|.;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374|MedGen:CN239326;CLNDN_clinvar_20171029_hg19=,not_specified|Congenital_Muscular_Dystrophy|_LAMA2-related;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.129807714G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:40922;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000426.3:c.7845G>A|_NM_001079823.1:c.7833G>A;Coding_region_change_in_longest_transcript=,NM_000426.3:c.7845G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3631;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2565;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,42;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,LAMA2:3908;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:3908;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:3908;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:6482;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:6482;Homo_sapiens_refseq_GRCh37.p13_Genes=,LAMA2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001079823.1|NM_000426.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene14812;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21260|rna21259;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:156225;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:156225;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene14812;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,129807714;RS_dbsnp_common_v150_hg19_refseq=,2229850;Read_count=,34;Read_coverage=,76;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.8568563575743475;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001079823.1|NM_000426.3;Reverse_read_coverage=,34;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3763;SF=1,2,9,14,15,16,17,20,23,24,25,27,28,30,35,38,39;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.624013|0.375987|.;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05032800030517053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.25;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.311111;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.388889;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.583333;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.605;db_xref=,GeneID:3908|HGNC:HGNC:6482|MIM:156225;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:01125;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001079823.1|HPRD:01125|Genbank:NM_000426.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,laminin_subunit_alpha_2;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LAMA2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,LAMA2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LAMM;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,laminin_subunit_alpha_2|_transcript_variant_2|laminin_subunit_alpha_2|_transcript_variant_1;transcript_id=,NM_001079823.1|NM_000426.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMA2:NM_001079823:exon55:c.G7833A:p.P2611P,LAMA2:NM_000426:exon56:c.G7845A:p.P2615P;cytoBand=6q22.33;genomicSuperDups=.;esp6500siv2_all=0.3422;esp6500siv2_ea=0.2488;esp6500siv2_all=0.3422;esp6500siv2_ea=0.2488;1000g2015aug_all=0.403754;avsnp147=rs2229850;Kaviar_AF=0.302066;Kaviar_AC=46700;Kaviar_AN=154602;ExAC_ALL=0.3080;ExAC_AFR=0.5382;ExAC_AMR=0.3079;ExAC_EAS=0.3912;ExAC_FIN=0.3145;ExAC_NFE=0.2597;ExAC_OTH=0.2874;ExAC_SAS=0.3134;CLNALLELEID=98895;CLNDN=Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related;CLNDISDB=MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.2004;dpsi_zscore=-0.688;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3031;gnomAD_exome_AFR=0.5475;gnomAD_exome_AMR=0.3052;gnomAD_exome_ASJ=0.2063;gnomAD_exome_EAS=0.3935;gnomAD_exome_FIN=0.3142;gnomAD_exome_NFE=0.2591;gnomAD_exome_OTH=0.2990;gnomAD_exome_SAS=0.3117;gnomAD_genome_ALL=0.3535;gnomAD_genome_AFR=0.5389;gnomAD_genome_AMR=0.3007;gnomAD_genome_ASJ=0.2285;gnomAD_genome_EAS=0.3878;gnomAD_genome_FIN=0.3129;gnomAD_genome_NFE=0.2609;gnomAD_genome_OTH=0.2953;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . 1:64:0,29 1:83:0,42 . . . . . . 1:57:0,21 . . . . 1:85:0,42 1:73:0,39 1:54:0,20 1:78:0,38 . . 1:62:0,32 . . 1:78:0,42 1:68:0,37 1:66:0,37 . 1:83:0,45 1:74:0,33 . 1:79:0,35 . . . . 1:62:0,30 . . 1:51:0,20 1:74:0,40 . . 6 129813053 92989;rs2244008 A G 107.29 . #_unique_end_positions=,12;#_unique_start_positions=,11;AC=3;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1210;AF_ESP_clinvar_20171029_hg19=,0.0808;AF_EXAC_clinvar_20171029_hg19=,0.09254;AF_TGP_clinvar_20171029_hg19=,0.1116;ALLELEID_clinvar_20171029_hg19=,98896;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0749;AN=3;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001073291.1:p.Thr2632Ala|_NP_000417.2:p.Thr2636Ala;Amino_acid_change_in_longest_transcript=,NP_000417.2:p.Thr2636Ala;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.8884|0.1116;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374|MedGen:CN239326;CLNDN_clinvar_20171029_hg19=,not_specified|Congenital_Muscular_Dystrophy|_LAMA2-related;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.129813053A>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:57385|UniProtKB_(protein):P24043#VAR_047721;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000426.3:c.7906A>G|_NM_001079823.1:c.7894A>G;Coding_region_change_in_longest_transcript=,NM_000426.3:c.7906A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1319;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0686;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,24;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,LAMA2:3908;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:3908;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:3908;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:6482;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:6482;Homo_sapiens_refseq_GRCh37.p13_Genes=,LAMA2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001079823.1|NM_000426.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene14812;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21260|rna21259;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:156225;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:156225;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene14812;QUAL=,90.51858767340488;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,129813053;RS_dbsnp_common_v150_hg19_refseq=,2244008;Read_count=,14;Read_coverage=,35;Read_direction_test_probability=,0.9003245225862656;Read_position_test_probability=,0.6105511484721149;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001079823.1|NM_000426.3;Reverse_read_coverage=,11;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1483;SF=2,20,39;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.910365|0.0896353;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050328000a05150537000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.142857;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0583333;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.121951;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.176471;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.130682;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.155556;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.188889;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.0833333;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.12;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.020979;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.0511364;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.075;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.959;db_xref=,GeneID:3908|HGNC:HGNC:6482|MIM:156225;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:01125;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001079823.1|HPRD:01125|Genbank:NM_000426.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,laminin_subunit_alpha_2;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LAMA2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,LAMA2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LAMM;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,laminin_subunit_alpha_2|_transcript_variant_2|laminin_subunit_alpha_2|_transcript_variant_1;transcript_id=,NM_001079823.1|NM_000426.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMA2:NM_001079823:exon56:c.A7894G:p.T2632A,LAMA2:NM_000426:exon57:c.A7906G:p.T2636A;cytoBand=6q22.33;genomicSuperDups=.;esp6500siv2_all=0.0808;esp6500siv2_ea=0.0630;esp6500siv2_all=0.0808;esp6500siv2_ea=0.0630;1000g2015aug_all=0.111621;avsnp147=rs2244008;Kaviar_AF=0.0845849;Kaviar_AC=13077;Kaviar_AN=154602;ExAC_ALL=0.0925;ExAC_AFR=0.1157;ExAC_AMR=0.0762;ExAC_EAS=0.1898;ExAC_FIN=0.1133;ExAC_NFE=0.0759;ExAC_OTH=0.0864;ExAC_SAS=0.0961;CLNALLELEID=98896;CLNDN=Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related;CLNDISDB=MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.035;SIFT_pred=D;Polyphen2_HDIV_score=0.015;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.01;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.179;MutationTaster_pred=P;MutationAssessor_score=2.15;MutationAssessor_pred=M;FATHMM_score=-1.09;FATHMM_pred=T;PROVEAN_score=-3.06;PROVEAN_pred=D;VEST3_score=0.074;CADD_raw=2.164;CADD_phred=17.27;DANN_score=0.991;fathmm-MKL_coding_score=0.811;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.687;MetaSVM_pred=T;MetaLR_score=0.247;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.46;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.140;phastCons7way_vertebrate=0.965;phastCons20way_mammalian=0.968;SiPhy_29way_logOdds=10.962;GDI_full_10282015=.;dpsi_max_tissue=0.5168;dpsi_zscore=1.149;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0870;gnomAD_exome_AFR=0.1113;gnomAD_exome_AMR=0.0731;gnomAD_exome_ASJ=0.0842;gnomAD_exome_EAS=0.1825;gnomAD_exome_FIN=0.1122;gnomAD_exome_NFE=0.0674;gnomAD_exome_OTH=0.0793;gnomAD_exome_SAS=0.0917;gnomAD_genome_ALL=0.0926;gnomAD_genome_AFR=0.1147;gnomAD_genome_AMR=0.0776;gnomAD_genome_ASJ=0.0861;gnomAD_genome_EAS=0.1722;gnomAD_genome_FIN=0.1155;gnomAD_genome_NFE=0.0676;gnomAD_genome_OTH=0.0806;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . 1:32:0,13 . . . . . . . . . . . . . . . . . 1:43:0,20 . . . . . . . . . . . . . . . . . . 1:35:0,13 . . 6 129813175 129443;rs35313209 T C 121.87 . #_unique_end_positions=,17;#_unique_start_positions=,12;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0552;AF_ESP_clinvar_20171029_hg19=,0.0243;AF_EXAC_clinvar_20171029_hg19=,0.01290;AF_TGP_clinvar_20171029_hg19=,0.0186;ALLELEID_clinvar_20171029_hg19=,134889;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0130;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.24;CAF_dbsnp_common_v150_hg19_refseq=,0.9814|0.01857;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374|MedGen:CN239326;CLNDN_clinvar_20171029_hg19=,not_specified|Congenital_Muscular_Dystrophy|_LAMA2-related;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.129813175T>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:102034;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000426.3:c.8028T>C|_NM_001079823.1:c.8016T>C;Coding_region_change_in_longest_transcript=,NM_000426.3:c.8028T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0080;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,19;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,LAMA2:3908;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:3908;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:3908;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:6482;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:6482;Homo_sapiens_refseq_GRCh37.p13_Genes=,LAMA2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001079823.1|NM_000426.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene14812;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21260|rna21259;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:156225;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:156225;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene14812;QUAL=,121.87137052093232;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,129813175;RS_dbsnp_common_v150_hg19_refseq=,35313209;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,19;Read_coverage=,41;Read_direction_test_probability=,0.9877100423970857;Read_position_test_probability=,0.7613578929460243;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001079823.1|NM_000426.3;Reverse_read_coverage=,22;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0020;SF=17;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.973178|0.0268219;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050368000305150536100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.823;db_xref=,GeneID:3908|HGNC:HGNC:6482|MIM:156225;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:01125;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001079823.1|HPRD:01125|Genbank:NM_000426.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,laminin_subunit_alpha_2;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LAMA2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,LAMA2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LAMM;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,laminin_subunit_alpha_2|_transcript_variant_2|laminin_subunit_alpha_2|_transcript_variant_1;transcript_id=,NM_001079823.1|NM_000426.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMA2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMA2:NM_001079823:exon56:c.T8016C:p.N2672N,LAMA2:NM_000426:exon57:c.T8028C:p.N2676N;cytoBand=6q22.33;genomicSuperDups=.;esp6500siv2_all=0.0243;esp6500siv2_ea=0.0130;esp6500siv2_all=0.0243;esp6500siv2_ea=0.0130;1000g2015aug_all=0.0185703;avsnp147=rs35313209;Kaviar_AF=0.0131628;Kaviar_AC=2035;Kaviar_AN=154602;ExAC_ALL=0.0129;ExAC_AFR=0.0474;ExAC_AMR=0.0056;ExAC_EAS=0;ExAC_FIN=0.0062;ExAC_NFE=0.0138;ExAC_OTH=0.0110;ExAC_SAS=0.0024;CLNALLELEID=134889;CLNDN=Merosin_deficient_congenital_muscular_dystrophy|Laminin_alpha_2-related_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related;CLNDISDB=MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN117977|MedGen:CN169374|MedGen:CN239326;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.4829;dpsi_zscore=-1.709;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0120;gnomAD_exome_AFR=0.0504;gnomAD_exome_AMR=0.0071;gnomAD_exome_ASJ=0.0081;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0059;gnomAD_exome_NFE=0.0144;gnomAD_exome_OTH=0.0115;gnomAD_exome_SAS=0.0025;gnomAD_genome_ALL=0.0210;gnomAD_genome_AFR=0.0488;gnomAD_genome_AMR=0.0072;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0052;gnomAD_genome_NFE=0.0123;gnomAD_genome_OTH=0.0143;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . 1:39:0,17 . . . . . . . . . . . . . . . . . . . . . . . . 6 133789728 44773;rs9493627 G A 103.29 . #_unique_end_positions=,13;#_unique_start_positions=,12;AC=28;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5688;AF_ESP_clinvar_20171029_hg19=,0.3830;AF_EXAC_clinvar_20171029_hg19=,0.34169;AF_TGP_clinvar_20171029_hg19=,0.4095;ALLELEID_clinvar_20171029_hg19=,53940;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3429;AN=28;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_742101.2:p.Gly254Ser|_NP_004091.3:p.Gly277Ser|_NP_742103.1:p.Gly277Ser|_NP_001287942.1:p.Gly277Ser|_NP_001287941.1:p.Gly223Ser;Amino_acid_change_in_longest_transcript=,NP_004091.3:p.Gly277Ser;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.5905|0.4095;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239435;CLNDN_clinvar_20171029_hg19=,not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Nonsyndromic_Hearing_Loss|_Dominant;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.133789728G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:40969|UniProtKB_(protein):O95677#VAR_022932;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001301012.1:c.667G>A|_NM_001301013.1:c.829G>A|_NM_004100.4:c.829G>A|_NM_172103.3:c.760G>A|_NM_172105.3:c.829G>A;Coding_region_change_in_longest_transcript=,NM_004100.4:c.829G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3442;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3111;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,33;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,EYA4:2070|LOC101928164:101928164;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:2070;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:2070;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:3522;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:3522;Homo_sapiens_refseq_GRCh37.p13_Genes=,EYA4;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_172103.3|NM_172105.3|NM_004100.4|NM_001301012.1|NM_001301013.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene14871;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21334|rna21332|rna21333|rna21336|rna21335;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:603550;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:603550;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene14871;QUAL=,91.805032246867;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,133789728;RS_dbsnp_common_v150_hg19_refseq=,9493627;Read_count=,18;Read_coverage=,50;Read_direction_test_probability=,0.974109151571268;Read_position_test_probability=,0.5451396750822057;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_172103.3|NM_172105.3|NM_004100.4|NM_001301012.1|NM_001301013.1;Reverse_read_coverage=,17;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4100;SF=0,1,4,5,6,7,9,13,14,17,24,25,26,27,28,29,30,31,32,33,34,35,36,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.58414|0.41586;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128080a0515053f000101;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.5;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.321429;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.5125;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.321429;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.471591;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.418605;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.372093;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.6;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.37;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.678322;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.329545;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.539823;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:2070|HGNC:HGNC:3522|MIM:603550;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_172103.3|Genbank:NM_172105.3|Genbank:NM_004100.4|Genbank:NM_001301012.1|Genbank:NM_001301013.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,EYA_transcriptional_coactivator_and_phosphatase_4;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,EYA4;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,EYA4;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1J|DFNA10;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,EYA_transcriptional_coactivator_and_phosphatase_4|_transcript_variant_2|EYA_transcriptional_coactivator_and_phosphatase_4|_transcript_variant_4|EYA_transcriptional_coactivator_and_phosphatase_4|_transcript_variant_1|EYA_transcriptional_coactivator_and_phosphatase_4|_transcript_variant_5|EYA_transcriptional_coactivator_and_phosphatase_4|_transcript_variant_6;transcript_id=,NM_172103.3|NM_172105.3|NM_004100.4|NM_001301012.1|NM_001301013.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=EYA4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=EYA4:NM_001301012:exon9:c.G667A:p.G223S,EYA4:NM_172103:exon10:c.G760A:p.G254S,EYA4:NM_001301013:exon11:c.G829A:p.G277S,EYA4:NM_004100:exon11:c.G829A:p.G277S,EYA4:NM_172105:exon11:c.G829A:p.G277S;cytoBand=6q23.2;genomicSuperDups=.;esp6500siv2_all=0.3830;esp6500siv2_ea=0.3128;esp6500siv2_all=0.3830;esp6500siv2_ea=0.3128;1000g2015aug_all=0.409545;avsnp147=rs9493627;Kaviar_AF=0.339142;Kaviar_AC=52432;Kaviar_AN=154602;ExAC_ALL=0.3417;ExAC_AFR=0.5308;ExAC_AMR=0.2865;ExAC_EAS=0.3561;ExAC_FIN=0.2352;ExAC_NFE=0.3197;ExAC_OTH=0.3623;ExAC_SAS=0.3833;CLNALLELEID=53940;CLNDN=not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Nonsyndromic_Hearing_Loss,_Dominant;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239435;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.182;SIFT_pred=T;Polyphen2_HDIV_score=0.969;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.868;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=1.535;MutationAssessor_pred=L;FATHMM_score=-1.69;FATHMM_pred=D;PROVEAN_score=-1.69;PROVEAN_pred=N;VEST3_score=0.599;CADD_raw=5.411;CADD_phred=26.0;DANN_score=0.999;fathmm-MKL_coding_score=0.993;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.202;MetaSVM_pred=T;MetaLR_score=0.533;MetaLR_pred=D;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=5.49;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=19.744;GDI_full_10282015=.;dpsi_max_tissue=-3.3628;dpsi_zscore=-2.231;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3319;gnomAD_exome_AFR=0.5373;gnomAD_exome_AMR=0.2802;gnomAD_exome_ASJ=0.2986;gnomAD_exome_EAS=0.3539;gnomAD_exome_FIN=0.2424;gnomAD_exome_NFE=0.3223;gnomAD_exome_OTH=0.3253;gnomAD_exome_SAS=0.3848;gnomAD_genome_ALL=0.3712;gnomAD_genome_AFR=0.5435;gnomAD_genome_AMR=0.3173;gnomAD_genome_ASJ=0.3146;gnomAD_genome_EAS=0.3489;gnomAD_genome_FIN=0.2466;gnomAD_genome_NFE=0.3103;gnomAD_genome_OTH=0.3119;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-3 GT:DP:CLCAD2 1:45:0,16 1/1:40:0,40 . . 1:25:0,12 1:37:0,20 1:19:0,15 1:34:0,14 . 1:24:0,11 . . . 1:48:0,16 1:46:0,15 . . 1:35:0,18 . . . . . . 1:32:0,19 1:30:0,11 1:37:0,17 1:36:0,16 1:52:0,24 1/1:34:0,34 1:37:0,13 1:32:0,12 1:37:0,15 1:31:0,14 1/1:31:0,31 1:30:0,15 1:43:0,15 . . . 1:30:0,12 1:39:0,21 6 133789728 44773;rs9493627 G A 103.29 . #_unique_end_positions=,13;#_unique_start_positions=,12;AC=28;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5688;AF_ESP_clinvar_20171029_hg19=,0.3830;AF_EXAC_clinvar_20171029_hg19=,0.34169;AF_TGP_clinvar_20171029_hg19=,0.4095;ALLELEID_clinvar_20171029_hg19=,53940;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3429;AN=28;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_742101.2:p.Gly254Ser|_NP_004091.3:p.Gly277Ser|_NP_742103.1:p.Gly277Ser|_NP_001287942.1:p.Gly277Ser|_NP_001287941.1:p.Gly223Ser;Amino_acid_change_in_longest_transcript=,NP_004091.3:p.Gly277Ser;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.5905|0.4095;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239435;CLNDN_clinvar_20171029_hg19=,not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Nonsyndromic_Hearing_Loss|_Dominant;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.133789728G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:40969|UniProtKB_(protein):O95677#VAR_022932;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001301012.1:c.667G>A|_NM_001301013.1:c.829G>A|_NM_004100.4:c.829G>A|_NM_172103.3:c.760G>A|_NM_172105.3:c.829G>A;Coding_region_change_in_longest_transcript=,NM_004100.4:c.829G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3442;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3111;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,33;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,EYA4:2070|LOC101928164:101928164;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:2070;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:2070;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:3522;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:3522;Homo_sapiens_refseq_GRCh37.p13_Genes=,EYA4;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_172103.3|NM_172105.3|NM_004100.4|NM_001301012.1|NM_001301013.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene14871;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21334|rna21332|rna21333|rna21336|rna21335;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:603550;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:603550;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene14871;QUAL=,91.805032246867;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,133789728;RS_dbsnp_common_v150_hg19_refseq=,9493627;Read_count=,18;Read_coverage=,50;Read_direction_test_probability=,0.974109151571268;Read_position_test_probability=,0.5451396750822057;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_172103.3|NM_172105.3|NM_004100.4|NM_001301012.1|NM_001301013.1;Reverse_read_coverage=,17;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4100;SF=0,1,4,5,6,7,9,13,14,17,24,25,26,27,28,29,30,31,32,33,34,35,36,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.58414|0.41586;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128080a0515053f000101;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.5;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.321429;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.5125;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.321429;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.471591;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.418605;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.372093;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.6;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.37;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.678322;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.329545;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.539823;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:2070|HGNC:HGNC:3522|MIM:603550;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_172103.3|Genbank:NM_172105.3|Genbank:NM_004100.4|Genbank:NM_001301012.1|Genbank:NM_001301013.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,EYA_transcriptional_coactivator_and_phosphatase_4;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,EYA4;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,EYA4;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1J|DFNA10;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,EYA_transcriptional_coactivator_and_phosphatase_4|_transcript_variant_2|EYA_transcriptional_coactivator_and_phosphatase_4|_transcript_variant_4|EYA_transcriptional_coactivator_and_phosphatase_4|_transcript_variant_1|EYA_transcriptional_coactivator_and_phosphatase_4|_transcript_variant_5|EYA_transcriptional_coactivator_and_phosphatase_4|_transcript_variant_6;transcript_id=,NM_172103.3|NM_172105.3|NM_004100.4|NM_001301012.1|NM_001301013.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=EYA4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=EYA4:NM_001301012:exon9:c.G667A:p.G223S,EYA4:NM_172103:exon10:c.G760A:p.G254S,EYA4:NM_001301013:exon11:c.G829A:p.G277S,EYA4:NM_004100:exon11:c.G829A:p.G277S,EYA4:NM_172105:exon11:c.G829A:p.G277S;cytoBand=6q23.2;genomicSuperDups=.;esp6500siv2_all=0.3830;esp6500siv2_ea=0.3128;esp6500siv2_all=0.3830;esp6500siv2_ea=0.3128;1000g2015aug_all=0.409545;avsnp147=rs9493627;Kaviar_AF=0.339142;Kaviar_AC=52432;Kaviar_AN=154602;ExAC_ALL=0.3417;ExAC_AFR=0.5308;ExAC_AMR=0.2865;ExAC_EAS=0.3561;ExAC_FIN=0.2352;ExAC_NFE=0.3197;ExAC_OTH=0.3623;ExAC_SAS=0.3833;CLNALLELEID=53940;CLNDN=not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Nonsyndromic_Hearing_Loss,_Dominant;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239435;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.182;SIFT_pred=T;Polyphen2_HDIV_score=0.969;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.868;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=1.535;MutationAssessor_pred=L;FATHMM_score=-1.69;FATHMM_pred=D;PROVEAN_score=-1.69;PROVEAN_pred=N;VEST3_score=0.599;CADD_raw=5.411;CADD_phred=26.0;DANN_score=0.999;fathmm-MKL_coding_score=0.993;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.202;MetaSVM_pred=T;MetaLR_score=0.533;MetaLR_pred=D;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=5.49;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=19.744;GDI_full_10282015=.;dpsi_max_tissue=-3.3628;dpsi_zscore=-2.231;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3319;gnomAD_exome_AFR=0.5373;gnomAD_exome_AMR=0.2802;gnomAD_exome_ASJ=0.2986;gnomAD_exome_EAS=0.3539;gnomAD_exome_FIN=0.2424;gnomAD_exome_NFE=0.3223;gnomAD_exome_OTH=0.3253;gnomAD_exome_SAS=0.3848;gnomAD_genome_ALL=0.3712;gnomAD_genome_AFR=0.5435;gnomAD_genome_AMR=0.3173;gnomAD_genome_ASJ=0.3146;gnomAD_genome_EAS=0.3489;gnomAD_genome_FIN=0.2466;gnomAD_genome_NFE=0.3103;gnomAD_genome_OTH=0.3119;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-3 GT:DP:CLCAD2 1:45:0,16 1/1:40:0,40 . . 1:25:0,12 1:37:0,20 1:19:0,15 1:34:0,14 . 1:24:0,11 . . . 1:48:0,16 1:46:0,15 . . 1:35:0,18 . . . . . . 1:32:0,19 1:30:0,11 1:37:0,17 1:36:0,16 1:52:0,24 1/1:34:0,34 1:37:0,13 1:32:0,12 1:37:0,15 1:31:0,14 1/1:31:0,31 1:30:0,15 1:43:0,15 . . . 1:30:0,12 1:39:0,21 6 133789765 163446;rs41286200 C T 200.00 . #_unique_end_positions=,19;#_unique_start_positions=,16;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0006;AF_EXAC_clinvar_20171029_hg19=,0.00063;AF_TGP_clinvar_20171029_hg19=,0.0004;ALLELEID_clinvar_20171029_hg19=,174484;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AN=1;Amino_acid_change=,NP_001287942.1:p.Thr289Met|_NP_742101.2:p.Thr266Met|_NP_004091.3:p.Thr289Met|_NP_001287941.1:p.Thr235Met|_NP_742103.1:p.Thr289Met;Amino_acid_change_in_longest_transcript=,NP_004091.3:p.Thr289Met;BaseQRankSum=,-0.5;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374|MedGen:CN239310|MedGen:CN239435|MedGen:CN517202;CLNDN_clinvar_20171029_hg19=,not_specified|Dilated_Cardiomyopathy|_Dominant|Nonsyndromic_Hearing_Loss|_Dominant|not_provided;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.133789765C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:78134;Coding_region_change=,NM_001301012.1:c.704C>T|_NM_001301013.1:c.866C>T|_NM_004100.4:c.866C>T|_NM_172103.3:c.797C>T|_NM_172105.3:c.866C>T;Coding_region_change_in_longest_transcript=,NM_004100.4:c.866C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0020;Exact_match=,clinvar_20171029_hg19|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,28;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:2070;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:2070;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:3522;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:3522;Homo_sapiens_refseq_GRCh37.p13_Genes=,EYA4;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_172103.3|NM_172105.3|NM_004100.4|NM_001301012.1|NM_001301013.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene14871;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21334|rna21332|rna21333|rna21336|rna21335;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:603550;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:603550;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene14871;QUAL=,200.0;Read_count=,26;Read_coverage=,53;Read_direction_test_probability=,0.9965493476405918;Read_position_test_probability=,0.7721374495289458;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_172103.3|NM_172105.3|NM_004100.4|NM_001301012.1|NM_001301013.1;Reverse_read_coverage=,25;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=39;conservation_score=,0.049;db_xref=,GeneID:2070|HGNC:HGNC:3522|MIM:603550;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_172103.3|Genbank:NM_172105.3|Genbank:NM_004100.4|Genbank:NM_001301012.1|Genbank:NM_001301013.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,EYA_transcriptional_coactivator_and_phosphatase_4;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,EYA4;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,EYA4;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1J|DFNA10;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,EYA_transcriptional_coactivator_and_phosphatase_4|_transcript_variant_2|EYA_transcriptional_coactivator_and_phosphatase_4|_transcript_variant_4|EYA_transcriptional_coactivator_and_phosphatase_4|_transcript_variant_1|EYA_transcriptional_coactivator_and_phosphatase_4|_transcript_variant_5|EYA_transcriptional_coactivator_and_phosphatase_4|_transcript_variant_6;transcript_id=,NM_172103.3|NM_172105.3|NM_004100.4|NM_001301012.1|NM_001301013.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=EYA4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=EYA4:NM_001301012:exon9:c.C704T:p.T235M,EYA4:NM_172103:exon10:c.C797T:p.T266M,EYA4:NM_001301013:exon11:c.C866T:p.T289M,EYA4:NM_004100:exon11:c.C866T:p.T289M,EYA4:NM_172105:exon11:c.C866T:p.T289M;cytoBand=6q23.2;genomicSuperDups=.;esp6500siv2_all=0.0006;esp6500siv2_ea=0.0008;esp6500siv2_all=0.0006;esp6500siv2_ea=0.0008;1000g2015aug_all=0.000399361;avsnp147=rs41286200;Kaviar_AF=0.0006986;Kaviar_AC=108;Kaviar_AN=154602;ExAC_ALL=0.0006;ExAC_AFR=9.614e-05;ExAC_AMR=0.0008;ExAC_EAS=0;ExAC_FIN=0.0003;ExAC_NFE=0.0009;ExAC_OTH=0;ExAC_SAS=6.058e-05;CLNALLELEID=174484;CLNDN=Dilated_cardiomyopathy_1J|not_specified|Dilated_Cardiomyopathy,_Dominant|Nonsyndromic_Hearing_Loss,_Dominant|not_provided;CLNDISDB=MedGen:C1854368,OMIM:605362,Orphanet:ORPHA217622|MedGen:CN169374|MedGen:CN239310|MedGen:CN239435|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.04;SIFT_pred=D;Polyphen2_HDIV_score=0.997;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.888;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=1.355;MutationAssessor_pred=L;FATHMM_score=-1.52;FATHMM_pred=D;PROVEAN_score=-1.19;PROVEAN_pred=N;VEST3_score=0.654;CADD_raw=4.801;CADD_phred=24.8;DANN_score=0.999;fathmm-MKL_coding_score=0.970;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.182;MetaSVM_pred=T;MetaLR_score=0.507;MetaLR_pred=D;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=5.73;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=0.991;SiPhy_29way_logOdds=20.27;GDI_full_10282015=.;dpsi_max_tissue=-1.4836;dpsi_zscore=-1.709;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0007;gnomAD_exome_AFR=6.537e-05;gnomAD_exome_AMR=0.0006;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0005;gnomAD_exome_NFE=0.0011;gnomAD_exome_OTH=0.0004;gnomAD_exome_SAS=6.498e-05;gnomAD_genome_ALL=0.0009;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0006;gnomAD_genome_NFE=0.0017;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:45:0,23 . . 6 133789765 163446;rs41286200 C T 200.00 . #_unique_end_positions=,19;#_unique_start_positions=,16;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0006;AF_EXAC_clinvar_20171029_hg19=,0.00063;AF_TGP_clinvar_20171029_hg19=,0.0004;ALLELEID_clinvar_20171029_hg19=,174484;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AN=1;Amino_acid_change=,NP_001287942.1:p.Thr289Met|_NP_742101.2:p.Thr266Met|_NP_004091.3:p.Thr289Met|_NP_001287941.1:p.Thr235Met|_NP_742103.1:p.Thr289Met;Amino_acid_change_in_longest_transcript=,NP_004091.3:p.Thr289Met;BaseQRankSum=,-0.5;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374|MedGen:CN239310|MedGen:CN239435|MedGen:CN517202;CLNDN_clinvar_20171029_hg19=,not_specified|Dilated_Cardiomyopathy|_Dominant|Nonsyndromic_Hearing_Loss|_Dominant|not_provided;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.133789765C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:78134;Coding_region_change=,NM_001301012.1:c.704C>T|_NM_001301013.1:c.866C>T|_NM_004100.4:c.866C>T|_NM_172103.3:c.797C>T|_NM_172105.3:c.866C>T;Coding_region_change_in_longest_transcript=,NM_004100.4:c.866C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0020;Exact_match=,clinvar_20171029_hg19|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,28;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:2070;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:2070;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:3522;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:3522;Homo_sapiens_refseq_GRCh37.p13_Genes=,EYA4;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_172103.3|NM_172105.3|NM_004100.4|NM_001301012.1|NM_001301013.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene14871;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21334|rna21332|rna21333|rna21336|rna21335;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:603550;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:603550;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene14871;QUAL=,200.0;Read_count=,26;Read_coverage=,53;Read_direction_test_probability=,0.9965493476405918;Read_position_test_probability=,0.7721374495289458;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_172103.3|NM_172105.3|NM_004100.4|NM_001301012.1|NM_001301013.1;Reverse_read_coverage=,25;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=39;conservation_score=,0.049;db_xref=,GeneID:2070|HGNC:HGNC:3522|MIM:603550;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_172103.3|Genbank:NM_172105.3|Genbank:NM_004100.4|Genbank:NM_001301012.1|Genbank:NM_001301013.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,EYA_transcriptional_coactivator_and_phosphatase_4;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,EYA4;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,EYA4;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1J|DFNA10;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,EYA_transcriptional_coactivator_and_phosphatase_4|_transcript_variant_2|EYA_transcriptional_coactivator_and_phosphatase_4|_transcript_variant_4|EYA_transcriptional_coactivator_and_phosphatase_4|_transcript_variant_1|EYA_transcriptional_coactivator_and_phosphatase_4|_transcript_variant_5|EYA_transcriptional_coactivator_and_phosphatase_4|_transcript_variant_6;transcript_id=,NM_172103.3|NM_172105.3|NM_004100.4|NM_001301012.1|NM_001301013.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=EYA4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=EYA4:NM_001301012:exon9:c.C704T:p.T235M,EYA4:NM_172103:exon10:c.C797T:p.T266M,EYA4:NM_001301013:exon11:c.C866T:p.T289M,EYA4:NM_004100:exon11:c.C866T:p.T289M,EYA4:NM_172105:exon11:c.C866T:p.T289M;cytoBand=6q23.2;genomicSuperDups=.;esp6500siv2_all=0.0006;esp6500siv2_ea=0.0008;esp6500siv2_all=0.0006;esp6500siv2_ea=0.0008;1000g2015aug_all=0.000399361;avsnp147=rs41286200;Kaviar_AF=0.0006986;Kaviar_AC=108;Kaviar_AN=154602;ExAC_ALL=0.0006;ExAC_AFR=9.614e-05;ExAC_AMR=0.0008;ExAC_EAS=0;ExAC_FIN=0.0003;ExAC_NFE=0.0009;ExAC_OTH=0;ExAC_SAS=6.058e-05;CLNALLELEID=174484;CLNDN=Dilated_cardiomyopathy_1J|not_specified|Dilated_Cardiomyopathy,_Dominant|Nonsyndromic_Hearing_Loss,_Dominant|not_provided;CLNDISDB=MedGen:C1854368,OMIM:605362,Orphanet:ORPHA217622|MedGen:CN169374|MedGen:CN239310|MedGen:CN239435|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.04;SIFT_pred=D;Polyphen2_HDIV_score=0.997;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.888;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=1.355;MutationAssessor_pred=L;FATHMM_score=-1.52;FATHMM_pred=D;PROVEAN_score=-1.19;PROVEAN_pred=N;VEST3_score=0.654;CADD_raw=4.801;CADD_phred=24.8;DANN_score=0.999;fathmm-MKL_coding_score=0.970;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.182;MetaSVM_pred=T;MetaLR_score=0.507;MetaLR_pred=D;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=5.73;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=0.991;SiPhy_29way_logOdds=20.27;GDI_full_10282015=.;dpsi_max_tissue=-1.4836;dpsi_zscore=-1.709;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0007;gnomAD_exome_AFR=6.537e-05;gnomAD_exome_AMR=0.0006;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0005;gnomAD_exome_NFE=0.0011;gnomAD_exome_OTH=0.0004;gnomAD_exome_SAS=6.498e-05;gnomAD_genome_ALL=0.0009;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0006;gnomAD_genome_NFE=0.0017;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:45:0,23 . . 6 133849868 36031;rs142721902 C T 135.74 . #_unique_end_positions=,15;#_unique_start_positions=,12;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0015;AF_ESP_clinvar_20171029_hg19=,0.0100;AF_EXAC_clinvar_20171029_hg19=,0.01241;AF_TGP_clinvar_20171029_hg19=,0.0082;ALLELEID_clinvar_20171029_hg19=,44695;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0029;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.32;CAF_dbsnp_common_v150_hg19_refseq=,0.9918|0.008187;CLNDISDB_clinvar_20171029_hg19=,MedGen:C0878544|Orphanet:ORPHA167848|SNOMED_CT:85898001|MedGen:C1854368|OMIM:605362|Orphanet:ORPHA217622|MedGen:CN169374|MedGen:CN230736;CLNDN_clinvar_20171029_hg19=,Cardiomyopathy|Dilated_cardiomyopathy_1J|not_specified|Cardiovascular_phenotype;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.133849868C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001301012.1:c.1683C>T|_NM_001301013.1:c.1863C>T|_NM_004100.4:c.1845C>T|_NM_172103.3:c.1776C>T|_NM_172105.3:c.1845C>T;Coding_region_change_in_longest_transcript=,NM_172105.3:c.1845C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0149;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,32;GENEINFO_dbsnp_common_v150_hg19_refseq=,EYA4:2070|TARID:100507308;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:2070|GeneID:100507308;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:2070;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:3522|HGNC:HGNC:50506;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:3522;Homo_sapiens_refseq_GRCh37.p13_Genes=,EYA4|TARID;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_172103.3|NM_172105.3|NM_004100.4|NM_001301012.1|NM_001301013.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene14871|gene14872;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21334|rna21332|rna21333|rna21336|rna21335;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:603550|MIM:616058;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:603550;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene14871;QUAL=,135.74378528479397;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,133849868;RS_dbsnp_common_v150_hg19_refseq=,142721902;Read_count=,18;Read_coverage=,38;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9670827190050845;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_172103.3|NM_172105.3|NM_004100.4|NM_001301012.1|NM_001301013.1;Reverse_read_coverage=,6;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0225;SF=10;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.993887|0.00611306;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050368080305040036100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:2070|HGNC:HGNC:3522|MIM:603550|GeneID:100507308|HGNC:HGNC:50506|MIM:616058;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_172103.3|Genbank:NM_172105.3|Genbank:NM_004100.4|Genbank:NM_001301012.1|Genbank:NM_001301013.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,EYA_transcriptional_coactivator_and_phosphatase_4|TCF21_antisense_RNA_inducing_promoter_demethylation;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,EYA4|TARID;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,EYA4;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding|lncRNA;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1J|DFNA10|EYA4-AS1;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,EYA_transcriptional_coactivator_and_phosphatase_4|_transcript_variant_2|EYA_transcriptional_coactivator_and_phosphatase_4|_transcript_variant_4|EYA_transcriptional_coactivator_and_phosphatase_4|_transcript_variant_1|EYA_transcriptional_coactivator_and_phosphatase_4|_transcript_variant_5|EYA_transcriptional_coactivator_and_phosphatase_4|_transcript_variant_6;transcript_id=,NM_172103.3|NM_172105.3|NM_004100.4|NM_001301012.1|NM_001301013.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=EYA4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=EYA4:NM_001301012:exon18:c.C1683T:p.N561N,EYA4:NM_172103:exon19:c.C1776T:p.N592N,EYA4:NM_001301013:exon20:c.C1863T:p.N621N,EYA4:NM_004100:exon20:c.C1845T:p.N615N,EYA4:NM_172105:exon20:c.C1845T:p.N615N;cytoBand=6q23.2;genomicSuperDups=.;esp6500siv2_all=0.0100;esp6500siv2_ea=0.0128;esp6500siv2_all=0.0100;esp6500siv2_ea=0.0128;1000g2015aug_all=0.0081869;avsnp147=rs142721902;Kaviar_AF=0.0116751;Kaviar_AC=1805;Kaviar_AN=154602;ExAC_ALL=0.0124;ExAC_AFR=0.0021;ExAC_AMR=0.0045;ExAC_EAS=0;ExAC_FIN=0.0041;ExAC_NFE=0.0143;ExAC_OTH=0.0077;ExAC_SAS=0.0269;CLNALLELEID=44695;CLNDN=Cardiomyopathy|Dilated_cardiomyopathy_1J|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1854368,OMIM:605362,Orphanet:ORPHA217622|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0118;gnomAD_exome_AFR=0.0022;gnomAD_exome_AMR=0.0038;gnomAD_exome_ASJ=0.0414;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0033;gnomAD_exome_NFE=0.0124;gnomAD_exome_OTH=0.0122;gnomAD_exome_SAS=0.0260;gnomAD_genome_ALL=0.0075;gnomAD_genome_AFR=0.0029;gnomAD_genome_AMR=0.0072;gnomAD_genome_ASJ=0.0497;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0046;gnomAD_genome_NFE=0.0107;gnomAD_genome_OTH=0.0092;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-10 GT:DP:CLCAD2 . . . . . . . . . . 1:38:0,18 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6 133849966 355448;rs3734279 C T 104.67 . #_unique_end_positions=,16;#_unique_start_positions=,14;AC=29;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2027;AF_ESP_clinvar_20171029_hg19=,0.3327;AF_EXAC_clinvar_20171029_hg19=,0.43432;AF_TGP_clinvar_20171029_hg19=,0.4711;ALLELEID_clinvar_20171029_hg19=,299116;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5274;AN=29;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.25;CAF_dbsnp_common_v150_hg19_refseq=,0.529|0.471;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN239310|MedGen:CN239435;CLNDN_clinvar_20171029_hg19=,Dilated_Cardiomyopathy|_Dominant|Nonsyndromic_Hearing_Loss|_Dominant;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.133849966C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_single_submitter;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:40996;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001301012.1:c.*23C>T|_NM_001301013.1:c.*23C>T|_NM_004100.4:c.*23C>T|_NM_172103.3:c.*23C>T|_NM_172105.3:c.*23C>T;Coding_region_change_in_longest_transcript=,NM_172105.3:c.*23C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6855;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4016;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,28;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,EYA4:2070|TARID:100507308;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:2070|GeneID:100507308;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:2070;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:3522|HGNC:HGNC:50506;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:3522;Homo_sapiens_refseq_GRCh37.p13_Genes=,EYA4|TARID;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_172103.3|NM_172105.3|NM_004100.4|NM_001301012.1|NM_001301013.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene14871|gene14872;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21334|rna21332|rna21333|rna21336|rna21335;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001624|3_prime_UTR_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:603550|MIM:616058;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:603550;Non-synonymous=,-;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene14871;QUAL=,116.18690778165892;RSPOS_dbsnp_common_v150_hg19_refseq=,133849966;RS_dbsnp_common_v150_hg19_refseq=,3734279;Read_count=,18;Read_coverage=,44;Read_direction_test_probability=,0.999640826981421;Read_position_test_probability=,0.9413681370644522;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_172103.3|NM_172105.3|NM_004100.4|NM_001301012.1|NM_001301013.1;Reverse_read_coverage=,16;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6442;SF=2,3,5,6,7,8,12,13,15,16,17,22,23,25,26,30,32,33,34,35,36,37,38,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.664606|0.335394;U3_dbsnp_common_v150_hg19_refseq=,U3;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05010088000517053f000101;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.27551;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.38983;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.682927;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.7;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.666667;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.755556;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.655556;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.166667;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.51;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.213287;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.413793;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.208333;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.961;db_xref=,GeneID:2070|HGNC:HGNC:3522|MIM:603550|GeneID:100507308|HGNC:HGNC:50506|MIM:616058;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_172103.3|Genbank:NM_172105.3|Genbank:NM_004100.4|Genbank:NM_001301012.1|Genbank:NM_001301013.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,EYA_transcriptional_coactivator_and_phosphatase_4|TCF21_antisense_RNA_inducing_promoter_demethylation;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,EYA4|TARID;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,EYA4;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding|lncRNA;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1J|DFNA10|EYA4-AS1;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,EYA_transcriptional_coactivator_and_phosphatase_4|_transcript_variant_2|EYA_transcriptional_coactivator_and_phosphatase_4|_transcript_variant_4|EYA_transcriptional_coactivator_and_phosphatase_4|_transcript_variant_1|EYA_transcriptional_coactivator_and_phosphatase_4|_transcript_variant_5|EYA_transcriptional_coactivator_and_phosphatase_4|_transcript_variant_6;transcript_id=,NM_172103.3|NM_172105.3|NM_004100.4|NM_001301012.1|NM_001301013.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=ncRNA_intronic;Gene.refGene=TARID;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=6q23.2;genomicSuperDups=.;esp6500siv2_all=0.3327;esp6500siv2_ea=0.3865;esp6500siv2_all=0.3327;esp6500siv2_ea=0.3865;1000g2015aug_all=0.471046;avsnp147=rs3734279;Kaviar_AF=0.0021022;Kaviar_AC=325;Kaviar_AN=154602;ExAC_ALL=0.4343;ExAC_AFR=0.2278;ExAC_AMR=0.5760;ExAC_EAS=0.6499;ExAC_FIN=0.3959;ExAC_NFE=0.3777;ExAC_OTH=0.4283;ExAC_SAS=0.5970;CLNALLELEID=299116;CLNDN=Dilated_Cardiomyopathy,_Dominant|Nonsyndromic_Hearing_Loss,_Dominant;CLNDISDB=MedGen:CN239310|MedGen:CN239435;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.4429;gnomAD_exome_AFR=0.2247;gnomAD_exome_AMR=0.5566;gnomAD_exome_ASJ=0.3744;gnomAD_exome_EAS=0.6539;gnomAD_exome_FIN=0.3965;gnomAD_exome_NFE=0.3807;gnomAD_exome_OTH=0.4189;gnomAD_exome_SAS=0.5935;gnomAD_genome_ALL=0.3668;gnomAD_genome_AFR=0.2282;gnomAD_genome_AMR=0.5453;gnomAD_genome_ASJ=0.3245;gnomAD_genome_EAS=0.6538;gnomAD_genome_FIN=0.4018;gnomAD_genome_NFE=0.3957;gnomAD_genome_OTH=0.4232;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 . . 1:36:0,16 1/1:37:0,37 . 1:28:0,12 1:21:0,6 1:47:0,15 1:42:0,20 . . . 1:38:0,18 1:32:0,13 . 1:34:0,14 1:35:0,15 1:32:0,18 . . . . 1:30:0,14 1:34:0,15 . 1:29:0,9 1/1:39:0,39 . . . 1:34:0,14 . 1:25:0,12 1:34:0,14 1/1:47:0,47 1/1:28:0,28 1:32:0,18 1/1:19:0,19 1:36:0,16 . . 1:34:0,15 6 152443744 130436;rs2295190 G T 200.00 . #_unique_end_positions=,64;#_unique_start_positions=,64;AC=8;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0204;AF_ESP_clinvar_20171029_hg19=,0.1041;AF_EXAC_clinvar_20171029_hg19=,0.11816;AF_TGP_clinvar_20171029_hg19=,0.0769;ALLELEID_clinvar_20171029_hg19=,135882;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0533;AN=8;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001334631.1:p.Leu919Met|_NP_149062.1:p.Leu8693Met|_NP_892006.3:p.Leu8741Met;Amino_acid_change_in_longest_transcript=,NP_892006.3:p.Leu8741Met;BaseQRankSum=,-0.23;CAF_dbsnp_common_v150_hg19_refseq=,0.9231|0.07688;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001251|MedGen:C0007758|SNOMED_CT:85102008|MedGen:C0410189|Orphanet:ORPHA261|SNOMED_CT:111508004|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.152443744G>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:41325;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001328100.1:c.851-2657G>T|_NM_001347701.1:c.*32C>A|_NM_001347702.1:c.2755C>A|_NM_033071.3:c.26077C>A|_NM_182961.3:c.26221C>A;Coding_region_change_in_longest_transcript=,NM_182961.3:c.26221C>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0675;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1491;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,86;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,ESR1:2099|SYNE1:23345;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:2099|GeneID:23345;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:23345;Genotype=,G/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:3467|HGNC:HGNC:17089;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:17089;Homo_sapiens_refseq_GRCh37.p13_Genes=,ESR1|SYNE1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001347702.1|NM_001347701.1|NM_033071.3|NM_182961.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene15077|gene15078;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21647|rna21646|rna21645|rna21644;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:133430|MIM:608441;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608441;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene15078;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,152443744;RS_dbsnp_common_v150_hg19_refseq=,2295190;Read_count=,115;Read_coverage=,220;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9840793600494808;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001347702.1|NM_001347701.1|NM_033071.3|NM_182961.3;Reverse_read_coverage=,134;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1053;SF=5,7,19,24,26,34,40;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.915551|0.0844495;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050168080a0515053f100101;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.175;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0555556;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.155556;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.00833333;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.84;db_xref=,GeneID:2099|HGNC:HGNC:3467|MIM:133430|GeneID:23345|HGNC:HGNC:17089|MIM:608441;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001347702.1|Genbank:NM_001347701.1|Genbank:NM_033071.3|Genbank:NM_182961.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,estrogen_receptor_1|spectrin_repeat_containing_nuclear_envelope_protein_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ESR1|SYNE1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SYNE1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ER|Era|ESR|ESRA|ESTRR|NR3A1|8B|ARCA1|C6orf98|CPG2|dJ45H2.2|EDMD4|MYNE1|Nesp1|SCAR8;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_4|spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_3|spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_2|spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_1;transcript_id=,NM_001347702.1|NM_001347701.1|NM_033071.3|NM_182961.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon146:c.C26077A:p.L8693M,SYNE1:NM_182961:exon146:c.C26221A:p.L8741M;cytoBand=6q25.1;genomicSuperDups=.;esp6500siv2_all=0.1041;esp6500siv2_ea=0.1398;esp6500siv2_all=0.1041;esp6500siv2_ea=0.1398;1000g2015aug_all=0.076877;avsnp147=rs2295190;Kaviar_AF=0.117728;Kaviar_AC=18201;Kaviar_AN=154602;ExAC_ALL=0.1182;ExAC_AFR=0.0285;ExAC_AMR=0.0429;ExAC_EAS=0.0595;ExAC_FIN=0.2017;ExAC_NFE=0.1516;ExAC_OTH=0.1222;ExAC_SAS=0.0891;CLNALLELEID=135882;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.03;SIFT_pred=D;Polyphen2_HDIV_score=0.994;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.966;Polyphen2_HVAR_pred=D;LRT_score=0.072;LRT_pred=N;MutationTaster_score=0.746;MutationTaster_pred=P;MutationAssessor_score=2.695;MutationAssessor_pred=M;FATHMM_score=1.75;FATHMM_pred=T;PROVEAN_score=-1.62;PROVEAN_pred=N;VEST3_score=0.342;CADD_raw=4.671;CADD_phred=24.5;DANN_score=0.995;fathmm-MKL_coding_score=0.904;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.983;MetaSVM_pred=T;MetaLR_score=0.096;MetaLR_pred=T;integrated_fitCons_score=0.706;integrated_confidence_value=0;GERP++_RS=0.627;phyloP7way_vertebrate=-0.021;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.386;phastCons20way_mammalian=0.995;SiPhy_29way_logOdds=8.702;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1157;gnomAD_exome_AFR=0.0278;gnomAD_exome_AMR=0.0427;gnomAD_exome_ASJ=0.1159;gnomAD_exome_EAS=0.0558;gnomAD_exome_FIN=0.1967;gnomAD_exome_NFE=0.1501;gnomAD_exome_OTH=0.1134;gnomAD_exome_SAS=0.0895;gnomAD_genome_ALL=0.1200;gnomAD_genome_AFR=0.0316;gnomAD_genome_AMR=0.0465;gnomAD_genome_ASJ=0.1159;gnomAD_genome_EAS=0.0556;gnomAD_genome_FIN=0.1899;gnomAD_genome_NFE=0.1644;gnomAD_genome_OTH=0.1497;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . 1:199:0,102 . 1:117:0,55 . . . . . . . . . . . 1:161:0,78 . . . . 1:195:0,86 . 1/1:139:0,139 . . . . . . . 1:172:0,96 . . . . . 1:202:0,104 . 6 152443761 130434;rs2295192 C T 200.00 . #_unique_end_positions=,57;#_unique_start_positions=,61;AC=4;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0643;AF_ESP_clinvar_20171029_hg19=,0.0359;AF_EXAC_clinvar_20171029_hg19=,0.05090;AF_TGP_clinvar_20171029_hg19=,0.0649;ALLELEID_clinvar_20171029_hg19=,135880;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0620;AN=4;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_892006.3:p.Arg8735Gln|_NP_001334631.1:p.Arg913Gln|_NP_149062.1:p.Arg8687Gln;Amino_acid_change_in_longest_transcript=,NP_892006.3:p.Arg8735Gln;BaseQRankSum=,-0.41;CAF_dbsnp_common_v150_hg19_refseq=,0.9351|.|0.0649;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001251|MedGen:C0007758|SNOMED_CT:85102008|MedGen:C0410189|Orphanet:ORPHA261|SNOMED_CT:111508004|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.152443761C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:57848;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001328100.1:c.851-2640C>T|_NM_001347701.1:c.*15G>A|_NM_001347702.1:c.2738G>A|_NM_033071.3:c.26060G>A|_NM_182961.3:c.26204G>A;Coding_region_change_in_longest_transcript=,NM_182961.3:c.26204G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0744;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0447;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,74;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,ESR1:2099|SYNE1:23345;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:2099|GeneID:23345;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:23345;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:3467|HGNC:HGNC:17089;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:17089;Homo_sapiens_refseq_GRCh37.p13_Genes=,ESR1|SYNE1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001347702.1|NM_001347701.1|NM_033071.3|NM_182961.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene15077|gene15078;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21647|rna21646|rna21645|rna21644;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:133430|MIM:608441;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608441;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene15078;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,152443761;RS_dbsnp_common_v150_hg19_refseq=,2295192;Read_count=,127;Read_coverage=,233;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9990700197316964;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001347702.1|NM_001347701.1|NM_033071.3|NM_182961.3;Reverse_read_coverage=,159;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0787;SF=14,18,30,33;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.960437|.|0.0395632;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050168080a05150537100100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.0408163;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0446429;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.121951;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.0529412;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.0647059;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0833333;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0529412;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.0444444;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.08;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.0664336;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.0284091;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0454545;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.271;db_xref=,GeneID:2099|HGNC:HGNC:3467|MIM:133430|GeneID:23345|HGNC:HGNC:17089|MIM:608441;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001347702.1|Genbank:NM_001347701.1|Genbank:NM_033071.3|Genbank:NM_182961.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,estrogen_receptor_1|spectrin_repeat_containing_nuclear_envelope_protein_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ESR1|SYNE1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SYNE1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ER|Era|ESR|ESRA|ESTRR|NR3A1|8B|ARCA1|C6orf98|CPG2|dJ45H2.2|EDMD4|MYNE1|Nesp1|SCAR8;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_4|spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_3|spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_2|spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_1;transcript_id=,NM_001347702.1|NM_001347701.1|NM_033071.3|NM_182961.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon146:c.G26060A:p.R8687Q,SYNE1:NM_182961:exon146:c.G26204A:p.R8735Q;cytoBand=6q25.1;genomicSuperDups=.;esp6500siv2_all=0.0359;esp6500siv2_ea=0.0335;esp6500siv2_all=0.0359;esp6500siv2_ea=0.0335;1000g2015aug_all=0.0648962;avsnp147=rs2295192;Kaviar_AF=0.0480007;Kaviar_AC=7421;Kaviar_AN=154602;ExAC_ALL=0.0509;ExAC_AFR=0.0492;ExAC_AMR=0.0860;ExAC_EAS=0.0581;ExAC_FIN=0.0700;ExAC_NFE=0.0386;ExAC_OTH=0.0562;ExAC_SAS=0.0653;CLNALLELEID=135880;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.296;SIFT_pred=T;Polyphen2_HDIV_score=0.007;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.003;Polyphen2_HVAR_pred=B;LRT_score=0.115;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=4.66;FATHMM_pred=T;PROVEAN_score=-1.61;PROVEAN_pred=N;VEST3_score=0.137;CADD_raw=1.625;CADD_phred=13.99;DANN_score=0.902;fathmm-MKL_coding_score=0.077;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.998;MetaSVM_pred=T;MetaLR_score=0.029;MetaLR_pred=T;integrated_fitCons_score=0.706;integrated_confidence_value=0;GERP++_RS=1.27;phyloP7way_vertebrate=0.033;phyloP20way_mammalian=0.071;phastCons7way_vertebrate=0.007;phastCons20way_mammalian=0.005;SiPhy_29way_logOdds=10.065;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0518;gnomAD_exome_AFR=0.0518;gnomAD_exome_AMR=0.0817;gnomAD_exome_ASJ=0.0444;gnomAD_exome_EAS=0.0569;gnomAD_exome_FIN=0.0726;gnomAD_exome_NFE=0.0350;gnomAD_exome_OTH=0.0494;gnomAD_exome_SAS=0.0647;gnomAD_genome_ALL=0.0495;gnomAD_genome_AFR=0.0481;gnomAD_genome_AMR=0.0716;gnomAD_genome_ASJ=0.0430;gnomAD_genome_EAS=0.0544;gnomAD_genome_FIN=0.0656;gnomAD_genome_NFE=0.0438;gnomAD_genome_OTH=0.0652;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . . . . . . 1:214:0,116 . . . 1:128:0,60 . . . . . . . . . . . 1:187:0,91 . . 1:127:0,57 . . . . . . . . 6 152453291 130433;rs35591210 G A 164.75 . #_unique_end_positions=,25;#_unique_start_positions=,25;AC=7;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0045;AF_ESP_clinvar_20171029_hg19=,0.0544;AF_EXAC_clinvar_20171029_hg19=,0.05133;AF_TGP_clinvar_20171029_hg19=,0.0258;ALLELEID_clinvar_20171029_hg19=,135879;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0389;AN=7;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001334630.1:p.Thr889Ile|_NP_001334631.1:p.Thr865Ile|_NP_892006.3:p.Thr8687Ile|_NP_149062.1:p.Thr8639Ile;Amino_acid_change_in_longest_transcript=,NP_892006.3:p.Thr8687Ile;BaseQRankSum=,-0.69;CAF_dbsnp_common_v150_hg19_refseq=,0.9742|0.02576;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001251|MedGen:C0007758|SNOMED_CT:85102008|MedGen:C0410189|Orphanet:ORPHA261|SNOMED_CT:111508004|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.152453291G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:71489;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001347701.1:c.2666C>T|_NM_001347702.1:c.2594C>T|_NM_033071.3:c.25916C>T|_NM_182961.3:c.26060C>T;Coding_region_change_in_longest_transcript=,NM_182961.3:c.26060C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0825;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,37;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,SYNE1:23345;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:23345;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:23345;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:17089;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:17089;Homo_sapiens_refseq_GRCh37.p13_Genes=,SYNE1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001347702.1|NM_001347701.1|NM_033071.3|NM_182961.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene15078;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21647|rna21646|rna21645|rna21644;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608441;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608441;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene15078;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,152453291;RS_dbsnp_common_v150_hg19_refseq=,35591210;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,40;Read_coverage=,87;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.935015972601841;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001347702.1|NM_001347701.1|NM_033071.3|NM_182961.3;Reverse_read_coverage=,50;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0133;SF=1,5,15,21,25,30,37;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.95872|0.0412803;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050168000a0515053e100100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0833333;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.008;db_xref=,GeneID:23345|HGNC:HGNC:17089|MIM:608441;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001347702.1|Genbank:NM_001347701.1|Genbank:NM_033071.3|Genbank:NM_182961.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,spectrin_repeat_containing_nuclear_envelope_protein_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SYNE1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SYNE1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,8B|ARCA1|C6orf98|CPG2|dJ45H2.2|EDMD4|MYNE1|Nesp1|SCAR8;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_4|spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_3|spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_2|spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_1;transcript_id=,NM_001347702.1|NM_001347701.1|NM_033071.3|NM_182961.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon144:c.C25916T:p.T8639I,SYNE1:NM_182961:exon144:c.C26060T:p.T8687I;cytoBand=6q25.1;genomicSuperDups=.;esp6500siv2_all=0.0544;esp6500siv2_ea=0.0745;esp6500siv2_all=0.0544;esp6500siv2_ea=0.0745;1000g2015aug_all=0.0257588;avsnp147=rs35591210;Kaviar_AF=0.0534857;Kaviar_AC=8269;Kaviar_AN=154602;ExAC_ALL=0.0513;ExAC_AFR=0.0125;ExAC_AMR=0.0319;ExAC_EAS=0.0002;ExAC_FIN=0.0640;ExAC_NFE=0.0739;ExAC_OTH=0.0419;ExAC_SAS=0.0204;CLNALLELEID=135879;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.061;SIFT_pred=T;Polyphen2_HDIV_score=0.011;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.019;Polyphen2_HVAR_pred=B;LRT_score=0.388;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=1.445;MutationAssessor_pred=L;FATHMM_score=4.68;FATHMM_pred=T;PROVEAN_score=-1.42;PROVEAN_pred=N;VEST3_score=0.128;CADD_raw=1.797;CADD_phred=14.97;DANN_score=0.988;fathmm-MKL_coding_score=0.139;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.035;MetaSVM_pred=T;MetaLR_score=0.054;MetaLR_pred=T;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=2.62;phyloP7way_vertebrate=0.069;phyloP20way_mammalian=1.045;phastCons7way_vertebrate=0.954;phastCons20way_mammalian=0.965;SiPhy_29way_logOdds=2.870;GDI_full_10282015=.;dpsi_max_tissue=3.8126;dpsi_zscore=2.399;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0510;gnomAD_exome_AFR=0.0125;gnomAD_exome_AMR=0.0334;gnomAD_exome_ASJ=0.0454;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0.0582;gnomAD_exome_NFE=0.0769;gnomAD_exome_OTH=0.0499;gnomAD_exome_SAS=0.0207;gnomAD_genome_ALL=0.0506;gnomAD_genome_AFR=0.0135;gnomAD_genome_AMR=0.0263;gnomAD_genome_ASJ=0.0530;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0584;gnomAD_genome_NFE=0.0768;gnomAD_genome_OTH=0.0542;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . 1:74:0,32 . . . 1:52:0,23 . . . . . . . . . 1:75:0,38 . . . . . 1:59:0,28 . . . 1:48:0,27 . . . . 1:66:0,21 . . . . . . 1:39:0,16 . . . . 6 152453307 rs201664645 C G 145.07 . #_unique_end_positions=,20;#_unique_start_positions=,23;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0014;AN=1;Amino_acid_change=,NP_892006.3:p.Gly8682Arg|_NP_149062.1:p.Gly8634Arg|_NP_001334631.1:p.Gly860Arg|_NP_001334630.1:p.Gly884Arg;Amino_acid_change_in_longest_transcript=,NP_892006.3:p.Gly8682Arg;BaseQRankSum=,0.0;Coding_region_change=,NM_001347701.1:c.2650G>C|_NM_001347702.1:c.2578G>C|_NM_033071.3:c.25900G>C|_NM_182961.3:c.26044G>C;Coding_region_change_in_longest_transcript=,NM_182961.3:c.26044G>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;Exact_match=,1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,34;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:23345;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:23345;Genotype=,C/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:17089;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:17089;Homo_sapiens_refseq_GRCh37.p13_Genes=,SYNE1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001347702.1|NM_001347701.1|NM_033071.3|NM_182961.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene15078;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21647|rna21646|rna21645|rna21644;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608441;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608441;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene15078;QUAL=,145.07431738848783;Read_count=,33;Read_coverage=,79;Read_direction_test_probability=,0.9210669296452113;Read_position_test_probability=,0.9181475689583618;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001347702.1|NM_001347701.1|NM_033071.3|NM_182961.3;Reverse_read_coverage=,45;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=40;conservation_score=,0.86;db_xref=,GeneID:23345|HGNC:HGNC:17089|MIM:608441;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001347702.1|Genbank:NM_001347701.1|Genbank:NM_033071.3|Genbank:NM_182961.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,spectrin_repeat_containing_nuclear_envelope_protein_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SYNE1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SYNE1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,8B|ARCA1|C6orf98|CPG2|dJ45H2.2|EDMD4|MYNE1|Nesp1|SCAR8;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_4|spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_3|spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_2|spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_1;transcript_id=,NM_001347702.1|NM_001347701.1|NM_033071.3|NM_182961.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon144:c.G25900C:p.G8634R,SYNE1:NM_182961:exon144:c.G26044C:p.G8682R;cytoBand=6q25.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.000399361;avsnp147=rs201664645;Kaviar_AF=0.0001423;Kaviar_AC=22;Kaviar_AN=154602;ExAC_ALL=0.0002;ExAC_AFR=0;ExAC_AMR=0.0006;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0001;ExAC_OTH=0;ExAC_SAS=0.0002;CLNALLELEID=440938;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.083;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.994;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.295;MutationAssessor_pred=M;FATHMM_score=4.62;FATHMM_pred=T;PROVEAN_score=-4.75;PROVEAN_pred=D;VEST3_score=0.753;CADD_raw=7.289;CADD_phred=34;DANN_score=0.999;fathmm-MKL_coding_score=0.980;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.431;MetaSVM_pred=T;MetaLR_score=0.319;MetaLR_pred=T;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=5.75;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.932;phastCons7way_vertebrate=0.997;phastCons20way_mammalian=0.994;SiPhy_29way_logOdds=19.945;GDI_full_10282015=.;dpsi_max_tissue=6.4510;dpsi_zscore=2.783;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0003;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0012;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0001;gnomAD_exome_OTH=0.0004;gnomAD_exome_SAS=0.0003;gnomAD_genome_ALL=3.229e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.666e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=5 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:63:0,24 . 6 152457795 194449;rs118187988 C T 200.00 . #_unique_end_positions=,36;#_unique_start_positions=,32;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0014;AF_EXAC_clinvar_20171029_hg19=,0.00117;AF_TGP_clinvar_20171029_hg19=,0.0014;ALLELEID_clinvar_20171029_hg19=,191612;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0014;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.09;CAF_dbsnp_common_v150_hg19_refseq=,0.9986|0.001398;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001251|MedGen:C0007758|SNOMED_CT:85102008|MedGen:C0410189|Orphanet:ORPHA261|SNOMED_CT:111508004|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.152457795C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_conflicting_interpretations;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:550882;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001347701.1:c.2223G>A|_NM_001347702.1:c.2151G>A|_NM_033071.3:c.25473G>A|_NM_182961.3:c.25617G>A;Coding_region_change_in_longest_transcript=,NM_182961.3:c.25617G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0050;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,100;GENEINFO_dbsnp_common_v150_hg19_refseq=,SYNE1:23345;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:23345;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:23345;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:17089;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:17089;Homo_sapiens_refseq_GRCh37.p13_Genes=,SYNE1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001347702.1|NM_001347701.1|NM_033071.3|NM_182961.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene15078;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21647|rna21646|rna21645|rna21644;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608441;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608441;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene15078;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,152457795;RS_dbsnp_common_v150_hg19_refseq=,118187988;Read_count=,61;Read_coverage=,177;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.978407817349856;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001347702.1|NM_001347701.1|NM_033071.3|NM_182961.3;Reverse_read_coverage=,77;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=40;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.998592|0.00140806;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050000000305040036000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:23345|HGNC:HGNC:17089|MIM:608441;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001347702.1|Genbank:NM_001347701.1|Genbank:NM_033071.3|Genbank:NM_182961.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,spectrin_repeat_containing_nuclear_envelope_protein_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SYNE1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SYNE1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,8B|ARCA1|C6orf98|CPG2|dJ45H2.2|EDMD4|MYNE1|Nesp1|SCAR8;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_4|spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_3|spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_2|spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_1;transcript_id=,NM_001347702.1|NM_001347701.1|NM_033071.3|NM_182961.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon141:c.G25473A:p.E8491E,SYNE1:NM_182961:exon141:c.G25617A:p.E8539E;cytoBand=6q25.1;genomicSuperDups=.;esp6500siv2_all=0.0014;esp6500siv2_ea=0.0019;esp6500siv2_all=0.0014;esp6500siv2_ea=0.0019;1000g2015aug_all=0.00139776;avsnp147=rs118187988;Kaviar_AF=0.0013066;Kaviar_AC=202;Kaviar_AN=154602;ExAC_ALL=0.0012;ExAC_AFR=9.639e-05;ExAC_AMR=0.0010;ExAC_EAS=0;ExAC_FIN=0.0003;ExAC_NFE=0.0016;ExAC_OTH=0.0022;ExAC_SAS=0.0012;CLNALLELEID=191612;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1389;dpsi_zscore=0.590;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0014;gnomAD_exome_AFR=0.0001;gnomAD_exome_AMR=0.0017;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=8.969e-05;gnomAD_exome_NFE=0.0020;gnomAD_exome_OTH=0.0011;gnomAD_exome_SAS=0.0016;gnomAD_genome_ALL=0.0015;gnomAD_genome_AFR=0.0005;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0006;gnomAD_genome_NFE=0.0027;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:145:0,50 . 6 152464839 130430;rs2256135 A G 195.42 . #_unique_end_positions=,33;#_unique_start_positions=,31;AC=51;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7844;ALLELEID_clinvar_20171029_hg19=,135876;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7118;AN=51;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.39;CAF_dbsnp_common_v150_hg19_refseq=,0.3103|0.6897;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001251|MedGen:C0007758|SNOMED_CT:85102008|MedGen:C0410189|Orphanet:ORPHA261|SNOMED_CT:111508004|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.152464839A>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:41199;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001347701.1:c.1644T>C|_NM_001347702.1:c.1572T>C|_NM_033071.3:c.24894T>C|_NM_182961.3:c.25038T>C;Coding_region_change_in_longest_transcript=,NM_182961.3:c.25038T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6865;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5447;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,57;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,SYNE1:23345;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:23345;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:23345;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:17089;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:17089;Homo_sapiens_refseq_GRCh37.p13_Genes=,SYNE1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001347702.1|NM_001347701.1|NM_033071.3|NM_182961.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene15078;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21647|rna21646|rna21645|rna21644;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608441;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608441;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene15078;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,152464839;RS_dbsnp_common_v150_hg19_refseq=,2256135;Read_count=,48;Read_coverage=,114;Read_direction_test_probability=,0.8962275098835105;Read_position_test_probability=,0.8703737479614585;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001347702.1|NM_001347701.1|NM_033071.3|NM_182961.3;Reverse_read_coverage=,57;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6984;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,16,17,19,20,22,23,24,25,26,27,28,29,30,32,33,34,36,38,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.345766|0.654234;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05016800030517053f100100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.77551;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.5;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.682927;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.729412;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.718391;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.709302;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.69186;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.844444;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.71;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.807692;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.573864;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.783186;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.31;db_xref=,GeneID:23345|HGNC:HGNC:17089|MIM:608441;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001347702.1|Genbank:NM_001347701.1|Genbank:NM_033071.3|Genbank:NM_182961.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,spectrin_repeat_containing_nuclear_envelope_protein_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SYNE1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SYNE1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,8B|ARCA1|C6orf98|CPG2|dJ45H2.2|EDMD4|MYNE1|Nesp1|SCAR8;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_4|spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_3|spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_2|spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_1;transcript_id=,NM_001347702.1|NM_001347701.1|NM_033071.3|NM_182961.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon138:c.T24894C:p.R8298R,SYNE1:NM_182961:exon138:c.T25038C:p.R8346R;cytoBand=6q25.1;genomicSuperDups=.;esp6500siv2_all=0.6235;esp6500siv2_ea=0.5564;esp6500siv2_all=0.6235;esp6500siv2_ea=0.5564;1000g2015aug_all=0.689696;avsnp147=rs2256135;Kaviar_AF=0.602735;Kaviar_AC=93184;Kaviar_AN=154602;ExAC_ALL=0.6109;ExAC_AFR=0.7573;ExAC_AMR=0.7291;ExAC_EAS=0.7003;ExAC_FIN=0.4930;ExAC_NFE=0.5481;ExAC_OTH=0.6068;ExAC_SAS=0.6901;CLNALLELEID=135876;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1719;dpsi_zscore=-0.629;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.6099;gnomAD_exome_AFR=0.7578;gnomAD_exome_AMR=0.7171;gnomAD_exome_ASJ=0.5684;gnomAD_exome_EAS=0.6932;gnomAD_exome_FIN=0.4852;gnomAD_exome_NFE=0.5516;gnomAD_exome_OTH=0.5855;gnomAD_exome_SAS=0.6921;gnomAD_genome_ALL=0.6144;gnomAD_genome_AFR=0.7548;gnomAD_genome_AMR=0.7069;gnomAD_genome_ASJ=0.5927;gnomAD_genome_EAS=0.6994;gnomAD_genome_FIN=0.4963;gnomAD_genome_NFE=0.5468;gnomAD_genome_OTH=0.6071;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:99:0,42 1:99:0,47 1/1:90:0,90 1/1:104:0,104 1/1:84:0,84 1:122:0,58 1:74:0,34 1:88:0,42 1:118:0,60 1:101:0,44 1/1:113:0,113 1:104:0,55 1:113:0,47 1/1:147:0,147 1:137:0,65 . 1:139:0,72 1:112:0,61 . 1/1:83:0,81 1:114:0,65 . 1:142:0,70 1/1:127:0,127 1/1:133:0,133 1:77:0,35 1/1:94:0,94 1/1:141:0,141 1:139:0,49 1:143:0,68 1:156:0,67 . 1:92:0,38 1:88:0,33 1/1:107:0,107 . 1/1:96:0,96 . 1/1:87:0,87 1/1:100:0,100 1/1:100:0,100 1:96:0,52 6 152466674 130429;rs2747662 T C 142.41 . #_unique_end_positions=,22;#_unique_start_positions=,19;AC=32;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3389;AF_ESP_clinvar_20171029_hg19=,0.3359;AF_EXAC_clinvar_20171029_hg19=,0.34515;AF_TGP_clinvar_20171029_hg19=,0.3662;ALLELEID_clinvar_20171029_hg19=,135875;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5058;AN=32;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.25;CAF_dbsnp_common_v150_hg19_refseq=,0.6338|0.3662;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001251|MedGen:C0007758|SNOMED_CT:85102008|MedGen:C0410189|Orphanet:ORPHA261|SNOMED_CT:111508004|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.152466674T>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:41210;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001347701.1:c.1583-1774A>G|_NM_001347702.1:c.1458A>G|_NM_033071.3:c.24780A>G|_NM_182961.3:c.24977-1774A>G;Coding_region_change_in_longest_transcript=,NM_182961.3:c.24977-1774A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2976;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3310;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,24;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,SYNE1:23345;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:23345;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:23345;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:17089;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:17089;Homo_sapiens_refseq_GRCh37.p13_Genes=,SYNE1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001347702.1|NM_033071.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene15078;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21647|rna21645;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001627|intron_variant|SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608441;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608441;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene15078;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,152466674;RS_dbsnp_common_v150_hg19_refseq=,2747662;Read_count=,27;Read_coverage=,55;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9499881519941494;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001347702.1|NM_033071.3;Reverse_read_coverage=,31;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4110;SF=0,2,3,4,6,8,9,10,11,12,13,14,16,17,23,24,27,28,29,30,32,33,34,36,38,39,40;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.65997|0.34003;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05016808030517053f100100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.397959;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.261062;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.231707;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.25;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.363636;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.302326;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.261628;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.283333;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.56;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.391608;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.375;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.309735;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.103;db_xref=,GeneID:23345|HGNC:HGNC:17089|MIM:608441;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001347702.1|Genbank:NM_033071.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,spectrin_repeat_containing_nuclear_envelope_protein_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SYNE1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SYNE1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,8B|ARCA1|C6orf98|CPG2|dJ45H2.2|EDMD4|MYNE1|Nesp1|SCAR8;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_4|spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_2;transcript_id=,NM_001347702.1|NM_033071.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon137:c.A24780G:p.E8260E;cytoBand=6q25.1;genomicSuperDups=.;esp6500siv2_all=0.3359;esp6500siv2_ea=0.3301;esp6500siv2_all=0.3359;esp6500siv2_ea=0.3301;1000g2015aug_all=0.366214;avsnp147=rs2747662;Kaviar_AF=0.342117;Kaviar_AC=52892;Kaviar_AN=154602;ExAC_ALL=0.3452;ExAC_AFR=0.3402;ExAC_AMR=0.5190;ExAC_EAS=0.2955;ExAC_FIN=0.2272;ExAC_NFE=0.3171;ExAC_OTH=0.3612;ExAC_SAS=0.4119;CLNALLELEID=135875;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.8455;dpsi_zscore=-1.849;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3517;gnomAD_exome_AFR=0.3419;gnomAD_exome_AMR=0.5053;gnomAD_exome_ASJ=0.3992;gnomAD_exome_EAS=0.3009;gnomAD_exome_FIN=0.2171;gnomAD_exome_NFE=0.3201;gnomAD_exome_OTH=0.3610;gnomAD_exome_SAS=0.4126;gnomAD_genome_ALL=0.3146;gnomAD_genome_AFR=0.3364;gnomAD_genome_AMR=0.4928;gnomAD_genome_ASJ=0.4139;gnomAD_genome_EAS=0.2984;gnomAD_genome_FIN=0.2218;gnomAD_genome_NFE=0.3112;gnomAD_genome_OTH=0.3484;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:49:0,25 . 1:42:0,15 1/1:48:0,48 1/1:29:0,29 . 1:44:0,15 . 1:38:0,15 1:41:0,19 1/1:44:0,44 1:36:0,16 1:54:0,24 1:56:0,24 1:75:0,37 . 1:54:0,24 1:48:0,22 . . . . . 1:43:0,11 1:66:0,28 . . 1/1:43:0,43 1:72:0,24 1:68:0,20 1:37:0,13 . 1:54:0,24 1:44:0,12 1:63:0,33 . 1/1:38:0,38 . 1:40:0,14 1:48:0,27 1:55:0,20 . 6 152469188 130428;rs2252755 C G 192.69 . #_unique_end_positions=,36;#_unique_start_positions=,32;AC=33;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4576;AF_ESP_clinvar_20171029_hg19=,0.3736;AF_EXAC_clinvar_20171029_hg19=,0.35922;AF_TGP_clinvar_20171029_hg19=,0.3994;ALLELEID_clinvar_20171029_hg19=,135874;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5115;AN=33;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_892006.3:p.Gly8323Ala|_NP_001334630.1:p.Gly525Ala|_NP_001334631.1:p.Gly478Ala|_NP_149062.1:p.Gly8252Ala;Amino_acid_change_in_longest_transcript=,NP_892006.3:p.Gly8323Ala;BaseQRankSum=,-0.15;CAF_dbsnp_common_v150_hg19_refseq=,0.6006|0.3994;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001251|MedGen:C0007758|SNOMED_CT:85102008|MedGen:C0410189|Orphanet:ORPHA261|SNOMED_CT:111508004|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.152469188C>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:41223;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001347701.1:c.1574G>C|_NM_001347702.1:c.1433G>C|_NM_033071.3:c.24755G>C|_NM_182961.3:c.24968G>C;Coding_region_change_in_longest_transcript=,NM_182961.3:c.24968G>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2986;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3330;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,46;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,SYNE1:23345;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:23345;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:23345;Genotype=,C/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:17089;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:17089;Homo_sapiens_refseq_GRCh37.p13_Genes=,SYNE1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001347702.1|NM_001347701.1|NM_033071.3|NM_182961.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene15078;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21647|rna21646|rna21645|rna21644;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608441;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608441;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene15078;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,152469188;RS_dbsnp_common_v150_hg19_refseq=,2252755;Read_count=,44;Read_coverage=,85;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9700121699846712;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001347702.1|NM_001347701.1|NM_033071.3|NM_182961.3;Reverse_read_coverage=,39;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4131;SF=0,2,3,4,6,8,9,10,11,12,13,14,16,17,23,24,27,28,29,30,32,33,34,36,38,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.612439|0.387561;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050168000a0517053f100101;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.258333;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.311111;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.238636;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.415254;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.994;db_xref=,GeneID:23345|HGNC:HGNC:17089|MIM:608441;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001347702.1|Genbank:NM_001347701.1|Genbank:NM_033071.3|Genbank:NM_182961.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,spectrin_repeat_containing_nuclear_envelope_protein_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SYNE1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SYNE1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,8B|ARCA1|C6orf98|CPG2|dJ45H2.2|EDMD4|MYNE1|Nesp1|SCAR8;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_4|spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_3|spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_2|spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_1;transcript_id=,NM_001347702.1|NM_001347701.1|NM_033071.3|NM_182961.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon136:c.G24755C:p.G8252A,SYNE1:NM_182961:exon137:c.G24968C:p.G8323A;cytoBand=6q25.1;genomicSuperDups=.;esp6500siv2_all=0.3736;esp6500siv2_ea=0.3373;esp6500siv2_all=0.3736;esp6500siv2_ea=0.3373;1000g2015aug_all=0.399361;avsnp147=rs2252755;Kaviar_AF=0.355202;Kaviar_AC=54915;Kaviar_AN=154602;ExAC_ALL=0.3592;ExAC_AFR=0.4441;ExAC_AMR=0.5248;ExAC_EAS=0.2989;ExAC_FIN=0.2275;ExAC_NFE=0.3230;ExAC_OTH=0.3711;ExAC_SAS=0.4191;CLNALLELEID=135874;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.696;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.338;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_pred=D;MutationTaster_score=0.900;MutationTaster_pred=P;MutationAssessor_score=0.12;MutationAssessor_pred=N;FATHMM_score=5.02;FATHMM_pred=T;PROVEAN_score=-0.03;PROVEAN_pred=N;VEST3_score=0.165;CADD_raw=0.755;CADD_phred=9.179;DANN_score=0.226;fathmm-MKL_coding_score=0.941;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.079;MetaSVM_pred=T;MetaLR_score=0.051;MetaLR_pred=T;integrated_fitCons_score=0.563;integrated_confidence_value=0;GERP++_RS=5.34;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.985;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=19.033;GDI_full_10282015=.;dpsi_max_tissue=-0.0091;dpsi_zscore=-0.031;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3635;gnomAD_exome_AFR=0.4442;gnomAD_exome_AMR=0.5123;gnomAD_exome_ASJ=0.4127;gnomAD_exome_EAS=0.3024;gnomAD_exome_FIN=0.2188;gnomAD_exome_NFE=0.3248;gnomAD_exome_OTH=0.3680;gnomAD_exome_SAS=0.4205;gnomAD_genome_ALL=0.3490;gnomAD_genome_AFR=0.4444;gnomAD_genome_AMR=0.5036;gnomAD_genome_ASJ=0.4272;gnomAD_genome_EAS=0.3043;gnomAD_genome_FIN=0.2255;gnomAD_genome_NFE=0.3163;gnomAD_genome_OTH=0.3582;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:74:0,40 . 1:94:0,44 1/1:112:0,112 1/1:87:0,87 . 1:50:0,16 . 1:136:0,63 1:103:0,39 1/1:115:0,115 1:81:0,34 1:105:0,48 1:120:0,51 1:174:0,99 . 1:112:0,57 1:96:0,39 . . . . . 1:134:0,64 1:123:0,54 . . 1/1:122:0,122 1:114:0,56 1:130:0,70 1:106:0,51 . 1:102:0,56 1:77:0,36 1:103:0,51 . 1/1:78:0,78 . 1:92:0,41 1:101:0,44 1:74:0,32 1:90:0,42 6 152469204 194303;rs141716975 G A 200.00 . #_unique_end_positions=,38;#_unique_start_positions=,32;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0008;AF_ESP_clinvar_20171029_hg19=,0.0039;AF_EXAC_clinvar_20171029_hg19=,0.00532;AF_TGP_clinvar_20171029_hg19=,0.0022;ALLELEID_clinvar_20171029_hg19=,191466;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0029;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_892006.3:p.Leu8318Phe|_NP_149062.1:p.Leu8247Phe|_NP_001334630.1:p.Leu520Phe|_NP_001334631.1:p.Leu473Phe;Amino_acid_change_in_longest_transcript=,NP_892006.3:p.Leu8318Phe;BaseQRankSum=,-1.66;CAF_dbsnp_common_v150_hg19_refseq=,0.9978|0.002196;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001251|MedGen:C0007758|SNOMED_CT:85102008|MedGen:C0410189|Orphanet:ORPHA261|SNOMED_CT:111508004|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.152469204G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:131405;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001347701.1:c.1558C>T|_NM_001347702.1:c.1417C>T|_NM_033071.3:c.24739C>T|_NM_182961.3:c.24952C>T;Coding_region_change_in_longest_transcript=,NM_182961.3:c.24952C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0030;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,73;GENEINFO_dbsnp_common_v150_hg19_refseq=,SYNE1:23345;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:23345;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:23345;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:17089;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:17089;Homo_sapiens_refseq_GRCh37.p13_Genes=,SYNE1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001347702.1|NM_001347701.1|NM_033071.3|NM_182961.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene15078;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21647|rna21646|rna21645|rna21644;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608441;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608441;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene15078;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,152469204;RS_dbsnp_common_v150_hg19_refseq=,141716975;Read_count=,60;Read_coverage=,124;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9764561079031531;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001347702.1|NM_001347701.1|NM_033071.3|NM_182961.3;Reverse_read_coverage=,51;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0051;SF=28;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.997802|0.00219795;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050028000a05040436000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.998;db_xref=,GeneID:23345|HGNC:HGNC:17089|MIM:608441;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001347702.1|Genbank:NM_001347701.1|Genbank:NM_033071.3|Genbank:NM_182961.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,spectrin_repeat_containing_nuclear_envelope_protein_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SYNE1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SYNE1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,8B|ARCA1|C6orf98|CPG2|dJ45H2.2|EDMD4|MYNE1|Nesp1|SCAR8;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_4|spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_3|spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_2|spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_1;transcript_id=,NM_001347702.1|NM_001347701.1|NM_033071.3|NM_182961.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon136:c.C24739T:p.L8247F,SYNE1:NM_182961:exon137:c.C24952T:p.L8318F;cytoBand=6q25.1;genomicSuperDups=.;esp6500siv2_all=0.0039;esp6500siv2_ea=0.0056;esp6500siv2_all=0.0039;esp6500siv2_ea=0.0056;1000g2015aug_all=0.00219649;avsnp147=rs141716975;Kaviar_AF=0.0050646;Kaviar_AC=783;Kaviar_AN=154602;ExAC_ALL=0.0053;ExAC_AFR=0.0007;ExAC_AMR=0.0014;ExAC_EAS=0.0004;ExAC_FIN=0.0044;ExAC_NFE=0.0071;ExAC_OTH=0.0055;ExAC_SAS=0.0066;CLNALLELEID=191466;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.225;SIFT_pred=T;Polyphen2_HDIV_score=0.946;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.595;Polyphen2_HVAR_pred=P;LRT_score=0.006;LRT_pred=N;MutationTaster_score=0.724;MutationTaster_pred=D;MutationAssessor_score=2.295;MutationAssessor_pred=M;FATHMM_score=4.66;FATHMM_pred=T;PROVEAN_score=-1.52;PROVEAN_pred=N;VEST3_score=0.297;CADD_raw=2.924;CADD_phred=22.0;DANN_score=0.990;fathmm-MKL_coding_score=0.992;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.913;MetaSVM_pred=T;MetaLR_score=0.130;MetaLR_pred=T;integrated_fitCons_score=0.563;integrated_confidence_value=0;GERP++_RS=3.45;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=9.784;GDI_full_10282015=.;dpsi_max_tissue=0.0196;dpsi_zscore=0.133;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0051;gnomAD_exome_AFR=0.0008;gnomAD_exome_AMR=0.0019;gnomAD_exome_ASJ=0.0069;gnomAD_exome_EAS=0.0004;gnomAD_exome_FIN=0.0044;gnomAD_exome_NFE=0.0069;gnomAD_exome_OTH=0.0047;gnomAD_exome_SAS=0.0065;gnomAD_genome_ALL=0.0053;gnomAD_genome_AFR=0.0011;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0132;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0029;gnomAD_genome_NFE=0.0090;gnomAD_genome_OTH=0.0061;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:117:0,56 . . . . . . . . . . . . . 6 152469331 130427;rs2252748 C T 196.43 . #_unique_end_positions=,47;#_unique_start_positions=,42;AC=28;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3079;AF_ESP_clinvar_20171029_hg19=,0.3009;AF_EXAC_clinvar_20171029_hg19=,0.31295;AF_TGP_clinvar_20171029_hg19=,0.3395;ALLELEID_clinvar_20171029_hg19=,135873;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4597;AN=28;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.27;CAF_dbsnp_common_v150_hg19_refseq=,0.6605|0.3395;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001251|MedGen:C0007758|SNOMED_CT:85102008|MedGen:C0410189|Orphanet:ORPHA261|SNOMED_CT:111508004|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.152469331C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:41234;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001347701.1:c.1431G>A|_NM_001347702.1:c.1290G>A|_NM_033071.3:c.24612G>A|_NM_182961.3:c.24825G>A;Coding_region_change_in_longest_transcript=,NM_182961.3:c.24825G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2976;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2833;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,110;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,SYNE1:23345;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:23345;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:23345;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:17089;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:17089;Homo_sapiens_refseq_GRCh37.p13_Genes=,SYNE1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001347702.1|NM_001347701.1|NM_033071.3|NM_182961.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene15078;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21647|rna21646|rna21645|rna21644;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608441;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608441;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene15078;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,152469331;RS_dbsnp_common_v150_hg19_refseq=,2252748;Read_count=,91;Read_coverage=,185;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9997807131880226;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001347702.1|NM_001347701.1|NM_033071.3|NM_182961.3;Reverse_read_coverage=,75;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3978;SF=2,3,4,6,8,9,10,11,12,13,16,17,23,24,27,28,29,30,32,33,34,36,38,40;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.693454|0.306546;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05016800030517053f100100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.367347;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.261682;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.231707;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.259036;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.344828;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.309524;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.244444;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.269663;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.530612;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.405594;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.316092;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.272321;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.2;db_xref=,GeneID:23345|HGNC:HGNC:17089|MIM:608441;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001347702.1|Genbank:NM_001347701.1|Genbank:NM_033071.3|Genbank:NM_182961.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,spectrin_repeat_containing_nuclear_envelope_protein_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SYNE1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SYNE1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,8B|ARCA1|C6orf98|CPG2|dJ45H2.2|EDMD4|MYNE1|Nesp1|SCAR8;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_4|spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_3|spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_2|spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_1;transcript_id=,NM_001347702.1|NM_001347701.1|NM_033071.3|NM_182961.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon136:c.G24612A:p.P8204P,SYNE1:NM_182961:exon137:c.G24825A:p.P8275P;cytoBand=6q25.1;genomicSuperDups=.;esp6500siv2_all=0.3009;esp6500siv2_ea=0.2944;esp6500siv2_all=0.3009;esp6500siv2_ea=0.2944;1000g2015aug_all=0.339457;avsnp147=rs2252748;Kaviar_AF=0.309795;Kaviar_AC=47895;Kaviar_AN=154602;ExAC_ALL=0.3130;ExAC_AFR=0.3071;ExAC_AMR=0.4892;ExAC_EAS=0.2942;ExAC_FIN=0.1824;ExAC_NFE=0.2768;ExAC_OTH=0.3223;ExAC_SAS=0.4011;CLNALLELEID=135873;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0307;dpsi_zscore=-0.169;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3194;gnomAD_exome_AFR=0.3093;gnomAD_exome_AMR=0.4752;gnomAD_exome_ASJ=0.3390;gnomAD_exome_EAS=0.3008;gnomAD_exome_FIN=0.1768;gnomAD_exome_NFE=0.2810;gnomAD_exome_OTH=0.3178;gnomAD_exome_SAS=0.4012;gnomAD_genome_ALL=0.2826;gnomAD_genome_AFR=0.3034;gnomAD_genome_AMR=0.4450;gnomAD_genome_ASJ=0.3533;gnomAD_genome_EAS=0.3041;gnomAD_genome_FIN=0.1874;gnomAD_genome_NFE=0.2778;gnomAD_genome_OTH=0.3149;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . 1:162:0,81 1/1:168:0,168 1:123:0,51 . 1:127:0,44 . 1:185:0,85 1:167:0,68 1/1:170:0,170 1:161:0,77 1:193:0,95 1:192:0,89 . . 1:207:0,101 1:176:0,78 . . . . . 1:211:0,95 1:165:0,59 . . 1/1:196:0,196 1:209:0,95 1:220:0,100 1:184:0,81 . 1:166:0,69 1:134:0,60 1:172:0,71 . 1/1:151:0,151 . 1:150:0,68 . 1:151:0,65 . 6 152470752 130426;rs17082236 C A 168.21 . #_unique_end_positions=,14;#_unique_start_positions=,12;AC=8;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3283;AF_ESP_clinvar_20171029_hg19=,0.1330;AF_EXAC_clinvar_20171029_hg19=,0.06773;AF_TGP_clinvar_20171029_hg19=,0.1156;ALLELEID_clinvar_20171029_hg19=,135872;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0865;AN=8;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_892006.3:p.Ala8168Ser|_NP_001334631.1:p.Ala323Ser|_NP_001334630.1:p.Ala370Ser|_NP_149062.1:p.Ala8097Ser;Amino_acid_change_in_longest_transcript=,NP_892006.3:p.Ala8168Ser;BaseQRankSum=,-0.05;CAF_dbsnp_common_v150_hg19_refseq=,0.8844|0.1156;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001251|MedGen:C0007758|SNOMED_CT:85102008|MedGen:C0410189|Orphanet:ORPHA261|SNOMED_CT:111508004|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.152470752C>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:77364;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001347701.1:c.1108G>T|_NM_001347702.1:c.967G>T|_NM_033071.3:c.24289G>T|_NM_182961.3:c.24502G>T;Coding_region_change_in_longest_transcript=,NM_182961.3:c.24502G>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0646;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,15;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,SYNE1:23345;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:23345;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:23345;Genotype=,A/C;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:17089;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:17089;Homo_sapiens_refseq_GRCh37.p13_Genes=,SYNE1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001347702.1|NM_001347701.1|NM_033071.3|NM_182961.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene15078;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21647|rna21646|rna21645|rna21644;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608441;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608441;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene15078;QUAL=,123.73664794515385;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,152470752;RS_dbsnp_common_v150_hg19_refseq=,17082236;Read_count=,17;Read_coverage=,42;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.820094704393618;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001347702.1|NM_001347701.1|NM_033071.3|NM_182961.3;Reverse_read_coverage=,27;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0194;SF=0,4,10,14,30,33,39,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.845285|0.154715;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050168000a0515053f100101;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.255102;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0309735;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.00588235;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.0340909;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.00581395;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.288889;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.08;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.185315;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.109195;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.3125;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.698;db_xref=,GeneID:23345|HGNC:HGNC:17089|MIM:608441;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001347702.1|Genbank:NM_001347701.1|Genbank:NM_033071.3|Genbank:NM_182961.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,spectrin_repeat_containing_nuclear_envelope_protein_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SYNE1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SYNE1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,8B|ARCA1|C6orf98|CPG2|dJ45H2.2|EDMD4|MYNE1|Nesp1|SCAR8;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_4|spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_3|spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_2|spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_1;transcript_id=,NM_001347702.1|NM_001347701.1|NM_033071.3|NM_182961.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon135:c.G24289T:p.A8097S,SYNE1:NM_182961:exon136:c.G24502T:p.A8168S;cytoBand=6q25.1;genomicSuperDups=.;esp6500siv2_all=0.1330;esp6500siv2_ea=0.0548;esp6500siv2_all=0.1330;esp6500siv2_ea=0.0548;1000g2015aug_all=0.115615;avsnp147=rs17082236;Kaviar_AF=0.0668038;Kaviar_AC=10328;Kaviar_AN=154602;ExAC_ALL=0.0677;ExAC_AFR=0.2923;ExAC_AMR=0.0533;ExAC_EAS=0.0005;ExAC_FIN=0.0449;ExAC_NFE=0.0561;ExAC_OTH=0.0694;ExAC_SAS=0.0279;CLNALLELEID=135872;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.437;SIFT_pred=T;Polyphen2_HDIV_score=0.003;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.016;Polyphen2_HVAR_pred=B;LRT_score=0.009;LRT_pred=N;MutationTaster_score=0.990;MutationTaster_pred=P;MutationAssessor_score=0.345;MutationAssessor_pred=N;FATHMM_score=0.63;FATHMM_pred=T;PROVEAN_score=-1.38;PROVEAN_pred=N;VEST3_score=0.054;CADD_raw=2.796;CADD_phred=21.3;DANN_score=0.990;fathmm-MKL_coding_score=0.894;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.055;MetaSVM_pred=T;MetaLR_score=0.027;MetaLR_pred=T;integrated_fitCons_score=0.563;integrated_confidence_value=0;GERP++_RS=3.96;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=10.982;GDI_full_10282015=.;dpsi_max_tissue=-0.1115;dpsi_zscore=-0.483;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0637;gnomAD_exome_AFR=0.2986;gnomAD_exome_AMR=0.0558;gnomAD_exome_ASJ=0.1069;gnomAD_exome_EAS=0.0005;gnomAD_exome_FIN=0.0421;gnomAD_exome_NFE=0.0534;gnomAD_exome_OTH=0.0689;gnomAD_exome_SAS=0.0294;gnomAD_genome_ALL=0.1135;gnomAD_genome_AFR=0.2937;gnomAD_genome_AMR=0.0835;gnomAD_genome_ASJ=0.1225;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0381;gnomAD_genome_NFE=0.0441;gnomAD_genome_OTH=0.0541;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:37:0,17 . . . 1:39:0,22 . . . . . 1:73:0,40 . . . 1:61:0,26 . . . . . . . . . . . . . . . 1:63:0,28 . . 1:36:0,15 . . . . . 1:53:0,24 . 1:55:0,30 6 152473181 130425;rs910415 T C 200.00 . #_unique_end_positions=,33;#_unique_start_positions=,29;AC=6;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0628;AF_ESP_clinvar_20171029_hg19=,0.0495;AF_EXAC_clinvar_20171029_hg19=,0.03973;AF_TGP_clinvar_20171029_hg19=,0.0365;ALLELEID_clinvar_20171029_hg19=,135871;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0476;AN=6;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.43;CAF_dbsnp_common_v150_hg19_refseq=,0.9635|.|0.03654;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001251|MedGen:C0007758|SNOMED_CT:85102008|MedGen:C0410189|Orphanet:ORPHA261|SNOMED_CT:111508004|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.152473181T>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:77388;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001347701.1:c.831A>G|_NM_001347702.1:c.690A>G|_NM_033071.3:c.24012A>G|_NM_182961.3:c.24225A>G;Coding_region_change_in_longest_transcript=,NM_182961.3:c.24225A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0487;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,40;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,SYNE1:23345;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:23345;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:23345;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:17089;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:17089;Homo_sapiens_refseq_GRCh37.p13_Genes=,SYNE1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001347702.1|NM_001347701.1|NM_033071.3|NM_182961.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene15078;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21647|rna21646|rna21645|rna21644;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608441;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608441;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene15078;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,152473181;RS_dbsnp_common_v150_hg19_refseq=,910415;Read_count=,50;Read_coverage=,94;Read_direction_test_probability=,0.8607421270991302;Read_position_test_probability=,0.9945897470667436;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001347702.1|NM_001347701.1|NM_033071.3|NM_182961.3;Reverse_read_coverage=,54;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0174;SF=0,4,14,39,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.948348|.|0.0516519;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05016800030515053f100100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.0612245;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0176991;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.00588235;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.0340909;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.0722222;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.04;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.101399;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.0681818;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.079646;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.0;db_xref=,GeneID:23345|HGNC:HGNC:17089|MIM:608441;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001347702.1|Genbank:NM_001347701.1|Genbank:NM_033071.3|Genbank:NM_182961.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,spectrin_repeat_containing_nuclear_envelope_protein_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SYNE1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SYNE1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,8B|ARCA1|C6orf98|CPG2|dJ45H2.2|EDMD4|MYNE1|Nesp1|SCAR8;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_4|spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_3|spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_2|spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_1;transcript_id=,NM_001347702.1|NM_001347701.1|NM_033071.3|NM_182961.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon133:c.A24012G:p.A8004A,SYNE1:NM_182961:exon134:c.A24225G:p.A8075A;cytoBand=6q25.1;genomicSuperDups=.;esp6500siv2_all=0.0495;esp6500siv2_ea=0.0441;esp6500siv2_all=0.0495;esp6500siv2_ea=0.0441;1000g2015aug_all=0.0365415;avsnp147=rs910415;Kaviar_AF=0.039799;Kaviar_AC=6153;Kaviar_AN=154602;ExAC_ALL=0.0397;ExAC_AFR=0.0621;ExAC_AMR=0.0329;ExAC_EAS=0.0010;ExAC_FIN=0.0468;ExAC_NFE=0.0470;ExAC_OTH=0.0474;ExAC_SAS=0.0179;CLNALLELEID=135871;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.7422;dpsi_zscore=1.880;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0394;gnomAD_exome_AFR=0.0616;gnomAD_exome_AMR=0.0340;gnomAD_exome_ASJ=0.0873;gnomAD_exome_EAS=0.0009;gnomAD_exome_FIN=0.0433;gnomAD_exome_NFE=0.0439;gnomAD_exome_OTH=0.0512;gnomAD_exome_SAS=0.0196;gnomAD_genome_ALL=0.0440;gnomAD_genome_AFR=0.0620;gnomAD_genome_AMR=0.0525;gnomAD_genome_ASJ=0.0828;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0384;gnomAD_genome_NFE=0.0386;gnomAD_genome_OTH=0.0397;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:74:0,40 . . . 1:62:0,34 . . . . . . . . . 1:143:0,87 . . . . . . . . . . . . . . . . . . . . . . . . 1:126:0,68 . 1/1:100:0,100 6 152501416 194147;rs138787771 C T 200.00 . #_unique_end_positions=,22;#_unique_start_positions=,16;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0045;AF_EXAC_clinvar_20171029_hg19=,0.00371;AF_TGP_clinvar_20171029_hg19=,0.0012;ALLELEID_clinvar_20171029_hg19=,191310;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_892006.3:p.Arg7772Gln|_NP_149062.1:p.Arg7701Gln;Amino_acid_change_in_longest_transcript=,NP_892006.3:p.Arg7772Gln;BaseQRankSum=,-0.02;CAF_dbsnp_common_v150_hg19_refseq=,0.9988|0.001198;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001251|MedGen:C0007758|SNOMED_CT:85102008|MedGen:C0410189|Orphanet:ORPHA261|SNOMED_CT:111508004|MedGen:CN169374|MedGen:CN517202;CLNDN_clinvar_20171029_hg19=,Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified|not_provided;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.152501416C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_conflicting_interpretations;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:95366;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001347701.1:c.-80G>A|_NM_033071.3:c.23102G>A|_NM_182961.3:c.23315G>A;Coding_region_change_in_longest_transcript=,NM_182961.3:c.23315G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0060;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,11;GENEINFO_dbsnp_common_v150_hg19_refseq=,SYNE1:23345;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:23345;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:23345;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:17089;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:17089;Homo_sapiens_refseq_GRCh37.p13_Genes=,SYNE1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001347701.1|NM_033071.3|NM_182961.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene15078;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21646|rna21645|rna21644;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608441;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608441;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene15078;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,152501416;RS_dbsnp_common_v150_hg19_refseq=,138787771;Read_count=,27;Read_coverage=,55;Read_direction_test_probability=,0.9437122485752094;Read_position_test_probability=,0.9848921657389809;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001347701.1|NM_033071.3|NM_182961.3;Reverse_read_coverage=,44;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=19;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.99241|0.00758981;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050000000a05040436000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.957;db_xref=,GeneID:23345|HGNC:HGNC:17089|MIM:608441;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001347701.1|Genbank:NM_033071.3|Genbank:NM_182961.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,spectrin_repeat_containing_nuclear_envelope_protein_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SYNE1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SYNE1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,8B|ARCA1|C6orf98|CPG2|dJ45H2.2|EDMD4|MYNE1|Nesp1|SCAR8;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_3|spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_2|spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_1;transcript_id=,NM_001347701.1|NM_033071.3|NM_182961.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon128:c.G23102A:p.R7701Q,SYNE1:NM_182961:exon129:c.G23315A:p.R7772Q;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.0045;esp6500siv2_ea=0.0055;esp6500siv2_all=0.0045;esp6500siv2_ea=0.0055;1000g2015aug_all=0.00119808;avsnp147=rs138787771;Kaviar_AF=0.0042043;Kaviar_AC=650;Kaviar_AN=154602;ExAC_ALL=0.0037;ExAC_AFR=0.0021;ExAC_AMR=0.0007;ExAC_EAS=0;ExAC_FIN=0.0014;ExAC_NFE=0.0060;ExAC_OTH=0.0033;ExAC_SAS=0.0006;CLNALLELEID=191310;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=0.027;SIFT_pred=D;Polyphen2_HDIV_score=0.974;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.392;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=2.635;MutationAssessor_pred=M;FATHMM_score=1.31;FATHMM_pred=T;PROVEAN_score=-2.44;PROVEAN_pred=N;VEST3_score=0.236;CADD_raw=4.749;CADD_phred=24.7;DANN_score=0.999;fathmm-MKL_coding_score=0.956;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.049;MetaSVM_pred=T;MetaLR_score=0.064;MetaLR_pred=T;integrated_fitCons_score=0.706;integrated_confidence_value=0;GERP++_RS=3.29;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.964;phastCons20way_mammalian=0.983;SiPhy_29way_logOdds=11.585;GDI_full_10282015=.;dpsi_max_tissue=-0.6754;dpsi_zscore=-1.249;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0035;gnomAD_exome_AFR=0.0016;gnomAD_exome_AMR=0.0011;gnomAD_exome_ASJ=0.0013;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0016;gnomAD_exome_NFE=0.0063;gnomAD_exome_OTH=0.0038;gnomAD_exome_SAS=0.0008;gnomAD_genome_ALL=0.0036;gnomAD_genome_AFR=0.0013;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0017;gnomAD_genome_NFE=0.0060;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . 1:52:0,25 . . . . . . . . . . . . . . . . . . . . . . 6 152510429 282698;rs139590550 G A 200.00 . #_unique_end_positions=,21;#_unique_start_positions=,18;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0008;AF_ESP_clinvar_20171029_hg19=,0.0016;AF_EXAC_clinvar_20171029_hg19=,0.00171;AF_TGP_clinvar_20171029_hg19=,0.0012;ALLELEID_clinvar_20171029_hg19=,266935;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0043;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.48;CAF_dbsnp_common_v150_hg19_refseq=,0.9988|0.001198;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001251|MedGen:C0007758|SNOMED_CT:85102008|MedGen:C0410189|Orphanet:ORPHA261|SNOMED_CT:111508004|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.152510429G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:265478;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001347701.1:c.-4114C>T|_NM_033071.3:c.23046C>T|_NM_182961.3:c.23259C>T;Coding_region_change_in_longest_transcript=,NM_182961.3:c.23259C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0020;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,22;GENEINFO_dbsnp_common_v150_hg19_refseq=,SYNE1:23345;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:23345;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:23345;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:17089;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:17089;Homo_sapiens_refseq_GRCh37.p13_Genes=,SYNE1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_033071.3|NM_182961.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene15078;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21645|rna21644;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608441;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608441;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene15078;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,152510429;RS_dbsnp_common_v150_hg19_refseq=,139590550;Read_count=,33;Read_coverage=,63;Read_direction_test_probability=,0.9270391306469352;Read_position_test_probability=,0.4701236851095205;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_033071.3|NM_182961.3;Reverse_read_coverage=,41;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=12;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.998455|0.00154544;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050100000305040036000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.786;db_xref=,GeneID:23345|HGNC:HGNC:17089|MIM:608441;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_033071.3|Genbank:NM_182961.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,spectrin_repeat_containing_nuclear_envelope_protein_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SYNE1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SYNE1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,8B|ARCA1|C6orf98|CPG2|dJ45H2.2|EDMD4|MYNE1|Nesp1|SCAR8;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_2|spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_1;transcript_id=,NM_033071.3|NM_182961.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon127:c.C23046T:p.R7682R,SYNE1:NM_182961:exon128:c.C23259T:p.R7753R;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.0016;esp6500siv2_ea=0.0023;esp6500siv2_all=0.0016;esp6500siv2_ea=0.0023;1000g2015aug_all=0.00119808;avsnp147=rs139590550;Kaviar_AF=0.0015588;Kaviar_AC=241;Kaviar_AN=154602;ExAC_ALL=0.0017;ExAC_AFR=0.0002;ExAC_AMR=0.0022;ExAC_EAS=0.0001;ExAC_FIN=0;ExAC_NFE=0.0022;ExAC_OTH=0.0022;ExAC_SAS=0.0017;CLNALLELEID=266935;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.3249;dpsi_zscore=-0.889;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0017;gnomAD_exome_AFR=0.0003;gnomAD_exome_AMR=0.0019;gnomAD_exome_ASJ=0.0058;gnomAD_exome_EAS=5.799e-05;gnomAD_exome_FIN=4.485e-05;gnomAD_exome_NFE=0.0019;gnomAD_exome_OTH=0.0044;gnomAD_exome_SAS=0.0015;gnomAD_genome_ALL=0.0011;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0.0048;gnomAD_genome_ASJ=0.0099;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0015;gnomAD_genome_OTH=0.0051;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:DP:CLCAD2 . . . . . . . . . . . . 1:58:0,31 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6 152510454 . T C 200.00 . #_unique_end_positions=,20;#_unique_start_positions=,18;AC=1;AN=1;Amino_acid_change=,NP_892006.3:p.Asp7745Gly|_NP_149062.1:p.Asp7674Gly;Amino_acid_change_in_longest_transcript=,NP_892006.3:p.Asp7745Gly;BaseQRankSum=,-0.25;Coding_region_change=,NM_001347701.1:c.-4139A>G|_NM_033071.3:c.23021A>G|_NM_182961.3:c.23234A>G;Coding_region_change_in_longest_transcript=,NM_182961.3:c.23234A>G;Forward_read_coverage=,22;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:23345;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:23345;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:17089;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:17089;Homo_sapiens_refseq_GRCh37.p13_Genes=,SYNE1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_033071.3|NM_182961.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene15078;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21645|rna21644;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608441;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608441;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene15078;QUAL=,200.0;Read_count=,27;Read_coverage=,56;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9863468876519504;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_033071.3|NM_182961.3;Reverse_read_coverage=,34;SF=5;conservation_score=,0.345;db_xref=,GeneID:23345|HGNC:HGNC:17089|MIM:608441;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_033071.3|Genbank:NM_182961.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,spectrin_repeat_containing_nuclear_envelope_protein_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SYNE1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SYNE1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,8B|ARCA1|C6orf98|CPG2|dJ45H2.2|EDMD4|MYNE1|Nesp1|SCAR8;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_2|spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_1;transcript_id=,NM_033071.3|NM_182961.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon127:c.A23021G:p.D7674G,SYNE1:NM_182961:exon128:c.A23234G:p.D7745G;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs747774735;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=8.237e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.498e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.044;SIFT_pred=D;Polyphen2_HDIV_score=0.975;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.794;Polyphen2_HVAR_pred=P;LRT_score=0.019;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=2.045;MutationAssessor_pred=M;FATHMM_score=-0.93;FATHMM_pred=T;PROVEAN_score=-4.96;PROVEAN_pred=D;VEST3_score=0.668;CADD_raw=4.624;CADD_phred=24.5;DANN_score=0.998;fathmm-MKL_coding_score=0.978;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.089;MetaSVM_pred=T;MetaLR_score=0.431;MetaLR_pred=T;integrated_fitCons_score=0.706;integrated_confidence_value=0;GERP++_RS=5.99;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=0.964;phastCons7way_vertebrate=0.992;phastCons20way_mammalian=0.828;SiPhy_29way_logOdds=16.494;GDI_full_10282015=.;dpsi_max_tissue=-0.5240;dpsi_zscore=-1.115;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.065e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=8.969e-06;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . 1:52:0,25 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6 152529260 130423;rs3798756 G A 193.89 . #_unique_end_positions=,35;#_unique_start_positions=,28;AC=17;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1067;AF_ESP_clinvar_20171029_hg19=,0.1289;AF_EXAC_clinvar_20171029_hg19=,0.14365;AF_TGP_clinvar_20171029_hg19=,0.1552;ALLELEID_clinvar_20171029_hg19=,135869;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2378;AN=17;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.17;CAF_dbsnp_common_v150_hg19_refseq=,0.8448|0.1552;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001251|MedGen:C0007758|SNOMED_CT:85102008|MedGen:C0410189|Orphanet:ORPHA261|SNOMED_CT:111508004|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.152529260G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:41219;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_033071.3:c.22458C>T|_NM_182961.3:c.22671C>T;Coding_region_change_in_longest_transcript=,NM_182961.3:c.22671C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2133;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1272;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,50;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,SYNE1:23345;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:23345;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:23345;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:17089;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:17089;Homo_sapiens_refseq_GRCh37.p13_Genes=,SYNE1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_033071.3|NM_182961.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene15078;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21645|rna21644;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608441;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608441;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene15078;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,152529260;RS_dbsnp_common_v150_hg19_refseq=,3798756;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,54;Read_coverage=,110;Read_direction_test_probability=,0.9963794088870819;Read_position_test_probability=,0.6585089195868441;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_033071.3|NM_182961.3;Reverse_read_coverage=,60;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1309;SF=9,12,13,15,17,19,24,25,31,32,33,36,37,39,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.863349|0.136651;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05016800030517053f100100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.0816327;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.175;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.256098;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.220238;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.166667;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.211111;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.255556;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.134831;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.15;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.118881;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.119318;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0833333;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:23345|HGNC:HGNC:17089|MIM:608441;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_033071.3|Genbank:NM_182961.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,spectrin_repeat_containing_nuclear_envelope_protein_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SYNE1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SYNE1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,8B|ARCA1|C6orf98|CPG2|dJ45H2.2|EDMD4|MYNE1|Nesp1|SCAR8;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_2|spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_1;transcript_id=,NM_033071.3|NM_182961.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon124:c.C22458T:p.I7486I,SYNE1:NM_182961:exon125:c.C22671T:p.I7557I;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.1289;esp6500siv2_ea=0.1341;esp6500siv2_all=0.1289;esp6500siv2_ea=0.1341;1000g2015aug_all=0.155152;avsnp147=rs3798756;Kaviar_AF=0.140451;Kaviar_AC=21714;Kaviar_AN=154602;ExAC_ALL=0.1437;ExAC_AFR=0.1175;ExAC_AMR=0.2089;ExAC_EAS=0.2283;ExAC_FIN=0.0878;ExAC_NFE=0.1315;ExAC_OTH=0.1421;ExAC_SAS=0.1419;CLNALLELEID=135869;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0311;dpsi_zscore=0.203;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1449;gnomAD_exome_AFR=0.1184;gnomAD_exome_AMR=0.2012;gnomAD_exome_ASJ=0.1380;gnomAD_exome_EAS=0.2208;gnomAD_exome_FIN=0.0854;gnomAD_exome_NFE=0.1321;gnomAD_exome_OTH=0.1474;gnomAD_exome_SAS=0.1456;gnomAD_genome_ALL=0.1236;gnomAD_genome_AFR=0.1189;gnomAD_genome_AMR=0.1981;gnomAD_genome_ASJ=0.13;gnomAD_genome_EAS=0.2162;gnomAD_genome_FIN=0.0860;gnomAD_genome_NFE=0.1210;gnomAD_genome_OTH=0.1217;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . 1:95:0,47 . . 1:105:0,47 1:114:0,48 . 1:108:0,53 . 1:117:0,51 . 1:81:0,33 . . . . 1:111:0,42 1:87:0,43 . . . . . 1/1:61:0,61 1:116:0,49 1/1:93:0,93 . . 1:103:0,39 1:88:0,30 . 1:117:0,51 . 1:104:0,48 6 152532702 130422;rs35763277 T C 86.04 . #_unique_end_positions=,11;#_unique_start_positions=,9;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0008;AF_ESP_clinvar_20171029_hg19=,0.0127;AF_EXAC_clinvar_20171029_hg19=,0.01371;AF_TGP_clinvar_20171029_hg19=,0.0046;ALLELEID_clinvar_20171029_hg19=,135868;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0072;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_149062.1:p.Ser7435Gly|_NP_892006.3:p.Ser7506Gly;Amino_acid_change_in_longest_transcript=,NP_892006.3:p.Ser7506Gly;BaseQRankSum=,-0.38;CAF_dbsnp_common_v150_hg19_refseq=,0.9954|0.004593;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001251|MedGen:C0007758|SNOMED_CT:85102008|MedGen:C0410189|Orphanet:ORPHA261|SNOMED_CT:111508004|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.152532702T>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:104986;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_033071.3:c.22303A>G|_NM_182961.3:c.22516A>G;Coding_region_change_in_longest_transcript=,NM_182961.3:c.22516A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0169;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,4;GENEINFO_dbsnp_common_v150_hg19_refseq=,SYNE1:23345;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:23345;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:23345;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:17089;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:17089;Homo_sapiens_refseq_GRCh37.p13_Genes=,SYNE1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_033071.3|NM_182961.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene15078;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21645|rna21644;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608441;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608441;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene15078;QUAL=,86.03634892722204;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,152532702;RS_dbsnp_common_v150_hg19_refseq=,35763277;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,12;Read_coverage=,29;Read_direction_test_probability=,0.9929687196880318;Read_position_test_probability=,0.5592760348868625;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_033071.3|NM_182961.3;Reverse_read_coverage=,25;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=14;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.992135|0.00786455;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050160000a05040536100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:23345|HGNC:HGNC:17089|MIM:608441;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_033071.3|Genbank:NM_182961.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,spectrin_repeat_containing_nuclear_envelope_protein_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SYNE1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SYNE1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,8B|ARCA1|C6orf98|CPG2|dJ45H2.2|EDMD4|MYNE1|Nesp1|SCAR8;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_2|spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_1;transcript_id=,NM_033071.3|NM_182961.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon123:c.A22303G:p.S7435G,SYNE1:NM_182961:exon124:c.A22516G:p.S7506G;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.0127;esp6500siv2_ea=0.0171;esp6500siv2_all=0.0127;esp6500siv2_ea=0.0171;1000g2015aug_all=0.00459265;avsnp147=rs35763277;Kaviar_AF=0.0133439;Kaviar_AC=2063;Kaviar_AN=154602;ExAC_ALL=0.0137;ExAC_AFR=0.0033;ExAC_AMR=0.0020;ExAC_EAS=0;ExAC_FIN=0.0267;ExAC_NFE=0.0205;ExAC_OTH=0.0166;ExAC_SAS=0.0029;CLNALLELEID=135868;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.06;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.14;MutationAssessor_pred=M;FATHMM_score=1.3;FATHMM_pred=T;PROVEAN_score=-2.81;PROVEAN_pred=D;VEST3_score=0.772;CADD_raw=6.017;CADD_phred=27.9;DANN_score=0.999;fathmm-MKL_coding_score=0.982;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.631;MetaSVM_pred=T;MetaLR_score=0.237;MetaLR_pred=T;integrated_fitCons_score=0.732;integrated_confidence_value=0;GERP++_RS=5.62;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=1.058;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=16.120;GDI_full_10282015=.;dpsi_max_tissue=2.1418;dpsi_zscore=2.012;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0129;gnomAD_exome_AFR=0.0029;gnomAD_exome_AMR=0.0035;gnomAD_exome_ASJ=0.0071;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0277;gnomAD_exome_NFE=0.0195;gnomAD_exome_OTH=0.0121;gnomAD_exome_SAS=0.0029;gnomAD_genome_ALL=0.0112;gnomAD_genome_AFR=0.0031;gnomAD_genome_AMR=0.0048;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0255;gnomAD_genome_NFE=0.0139;gnomAD_genome_OTH=0.0163;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:DP:CLCAD2 . . . . . . . . . . . . . . 1:29:0,12 . . . . . . . . . . . . . . . . . . . . . . . . . . . 6 152534768 130421;rs34891041 C T 157.40 . #_unique_end_positions=,27;#_unique_start_positions=,24;AC=3;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0378;AF_ESP_clinvar_20171029_hg19=,0.0328;AF_EXAC_clinvar_20171029_hg19=,0.02611;AF_TGP_clinvar_20171029_hg19=,0.0206;ALLELEID_clinvar_20171029_hg19=,135867;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0173;AN=3;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.9794|0.02057;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001251|MedGen:C0007758|SNOMED_CT:85102008|MedGen:C0410189|Orphanet:ORPHA261|SNOMED_CT:111508004|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.152534768C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:105017;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_033071.3:c.22260G>A|_NM_182961.3:c.22473G>A;Coding_region_change_in_longest_transcript=,NM_182961.3:c.22473G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0129;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0249;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,49;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,SYNE1:23345;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:23345;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:23345;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:17089;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:17089;Homo_sapiens_refseq_GRCh37.p13_Genes=,SYNE1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_033071.3|NM_182961.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene15078;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21645|rna21644;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608441;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608441;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene15078;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,152534768;RS_dbsnp_common_v150_hg19_refseq=,34891041;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,34;Read_coverage=,68;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9177884582229239;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_033071.3|NM_182961.3;Reverse_read_coverage=,19;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0031;SF=14,15,25;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.963116|0.0368844;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050168000305150536100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:23345|HGNC:HGNC:17089|MIM:608441;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_033071.3|Genbank:NM_182961.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,spectrin_repeat_containing_nuclear_envelope_protein_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SYNE1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SYNE1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,8B|ARCA1|C6orf98|CPG2|dJ45H2.2|EDMD4|MYNE1|Nesp1|SCAR8;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_2|spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_1;transcript_id=,NM_033071.3|NM_182961.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon122:c.G22260A:p.L7420L,SYNE1:NM_182961:exon123:c.G22473A:p.L7491L;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.0328;esp6500siv2_ea=0.0271;esp6500siv2_all=0.0328;esp6500siv2_ea=0.0271;1000g2015aug_all=0.0205671;avsnp147=rs34891041;Kaviar_AF=0.0249609;Kaviar_AC=3859;Kaviar_AN=154602;ExAC_ALL=0.0261;ExAC_AFR=0.0463;ExAC_AMR=0.0073;ExAC_EAS=0.0068;ExAC_FIN=0.0343;ExAC_NFE=0.0328;ExAC_OTH=0.0275;ExAC_SAS=0.0064;CLNALLELEID=135867;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1407;dpsi_zscore=-0.559;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0242;gnomAD_exome_AFR=0.0480;gnomAD_exome_AMR=0.0093;gnomAD_exome_ASJ=0.0124;gnomAD_exome_EAS=0.0071;gnomAD_exome_FIN=0.0339;gnomAD_exome_NFE=0.0320;gnomAD_exome_OTH=0.0241;gnomAD_exome_SAS=0.0070;gnomAD_genome_ALL=0.0329;gnomAD_genome_AFR=0.0518;gnomAD_genome_AMR=0.0072;gnomAD_genome_ASJ=0.0099;gnomAD_genome_EAS=0.0080;gnomAD_genome_FIN=0.0335;gnomAD_genome_NFE=0.0266;gnomAD_genome_OTH=0.0305;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . . . . . . 1:61:0,29 1:48:0,20 . . . . . . . . . 1:51:0,21 . . . . . . . . . . . . . . . . 6 152540278 130419;rs2147377 A C 186.04 . #_unique_end_positions=,53;#_unique_start_positions=,39;AC=82;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9992;ALLELEID_clinvar_20171029_hg19=,135865;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9899;AN=82;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_149062.1:p.Phe7231Val|_NP_892006.3:p.Phe7302Val;Amino_acid_change_in_longest_transcript=,NP_892006.3:p.Phe7302Val;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.004393|0.9956;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001251|MedGen:C0007758|SNOMED_CT:85102008|MedGen:C0410189|Orphanet:ORPHA261|SNOMED_CT:111508004|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.152540278A>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:41242;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_033071.3:c.21691T>G|_NM_182961.3:c.21904T>G;Coding_region_change_in_longest_transcript=,NM_182961.3:c.21904T>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,1.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9861;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,27;GENEINFO_dbsnp_common_v150_hg19_refseq=,SYNE1:23345;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:23345;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:23345;Genotype=,C/C;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:17089;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:17089;Homo_sapiens_refseq_GRCh37.p13_Genes=,SYNE1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_033071.3|NM_182961.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene15078;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21645|rna21644;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608441;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608441;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene15078;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,152540278;RS_dbsnp_common_v150_hg19_refseq=,2147377;Read_count=,80;Read_coverage=,80;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_033071.3|NM_182961.3;Reverse_read_coverage=,53;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,1.0000;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.0111271|0.988873;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050168000a0504053f100100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.986486;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,1;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.988372;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.994048;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.994444;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.97;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.994253;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.995455;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.383;db_xref=,GeneID:23345|HGNC:HGNC:17089|MIM:608441;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_033071.3|Genbank:NM_182961.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,spectrin_repeat_containing_nuclear_envelope_protein_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SYNE1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SYNE1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,8B|ARCA1|C6orf98|CPG2|dJ45H2.2|EDMD4|MYNE1|Nesp1|SCAR8;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_2|spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_1;transcript_id=,NM_033071.3|NM_182961.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon119:c.T21691G:p.F7231V,SYNE1:NM_182961:exon120:c.T21904G:p.F7302V;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.9931;esp6500siv2_ea=0.9901;esp6500siv2_all=0.9931;esp6500siv2_ea=0.9901;1000g2015aug_all=0.995607;avsnp147=rs2147377;Kaviar_AF=0.982057;Kaviar_AC=151828;Kaviar_AN=154602;ExAC_ALL=0.9923;ExAC_AFR=0.9981;ExAC_AMR=0.9946;ExAC_EAS=1;ExAC_FIN=0.9891;ExAC_NFE=0.9886;ExAC_OTH=0.9945;ExAC_SAS=0.9988;CLNALLELEID=135865;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.003;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-1.935;MutationAssessor_pred=N;FATHMM_score=1.83;FATHMM_pred=T;PROVEAN_score=2.29;PROVEAN_pred=N;VEST3_score=0.1;CADD_raw=-0.224;CADD_phred=0.977;DANN_score=0.209;fathmm-MKL_coding_score=0.300;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.974;MetaSVM_pred=T;MetaLR_score=0.009;MetaLR_pred=T;integrated_fitCons_score=0.638;integrated_confidence_value=0;GERP++_RS=3.99;phyloP7way_vertebrate=-0.522;phyloP20way_mammalian=-0.398;phastCons7way_vertebrate=0.534;phastCons20way_mammalian=0.127;SiPhy_29way_logOdds=5.983;GDI_full_10282015=.;dpsi_max_tissue=4.4326;dpsi_zscore=2.503;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.9918;gnomAD_exome_AFR=0.9979;gnomAD_exome_AMR=0.9944;gnomAD_exome_ASJ=0.9934;gnomAD_exome_EAS=1;gnomAD_exome_FIN=0.9878;gnomAD_exome_NFE=0.9878;gnomAD_exome_OTH=0.9914;gnomAD_exome_SAS=0.9985;gnomAD_genome_ALL=0.9922;gnomAD_genome_AFR=0.9984;gnomAD_genome_AMR=0.9905;gnomAD_genome_ASJ=0.9868;gnomAD_genome_EAS=1;gnomAD_genome_FIN=0.9877;gnomAD_genome_NFE=0.9892;gnomAD_genome_OTH=0.9878;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1/1:68:0,68 1/1:78:0,78 1/1:66:0,66 1:74:0,43 1/1:59:0,59 1/1:71:0,71 1/1:53:0,53 1/1:68:0,68 1/1:76:0,76 1/1:52:0,52 1/1:83:0,83 1/1:50:0,50 1/1:56:0,56 1/1:81:0,81 1/1:96:0,96 1/1:79:0,79 1/1:85:0,85 1/1:81:0,81 1/1:57:0,57 1/1:56:0,56 1/1:88:0,88 1/1:91:0,91 1/1:84:0,84 1/1:80:0,80 1/1:88:0,88 1/1:55:0,55 1/1:63:0,63 1:107:0,57 1/1:111:0,111 1/1:77:0,77 1/1:85:0,85 1/1:54:0,54 1/1:74:0,74 1/1:48:0,48 1/1:68:0,68 1/1:59:0,59 1/1:85:0,85 1/1:70:0,70 1/1:49:0,49 1/1:72:0,72 1/1:63:0,63 1/1:66:0,66 6 152551800 . T G 64.63 . #_unique_end_positions=,18;#_unique_start_positions=,13;AC=1;AN=1;Amino_acid_change=,NP_149062.1:p.Glu6955Ala|_NP_892006.3:p.Glu7026Ala;Amino_acid_change_in_longest_transcript=,NP_892006.3:p.Glu7026Ala;BaseQRankSum=,0.41;Coding_region_change=,NM_033071.3:c.20864A>C|_NM_182961.3:c.21077A>C;Coding_region_change_in_longest_transcript=,NM_182961.3:c.21077A>C;Forward_read_coverage=,12;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:23345;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:23345;Genotype=,G/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:17089;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:17089;Homo_sapiens_refseq_GRCh37.p13_Genes=,SYNE1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_033071.3|NM_182961.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene15078;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21645|rna21644;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608441;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608441;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene15078;QUAL=,64.62801206201866;Read_count=,23;Read_coverage=,34;Read_direction_test_probability=,0.9993786664649809;Read_position_test_probability=,0.8317709717561768;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_033071.3|NM_182961.3;Reverse_read_coverage=,22;SF=35;conservation_score=,1.0;db_xref=,GeneID:23345|HGNC:HGNC:17089|MIM:608441;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_033071.3|Genbank:NM_182961.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,spectrin_repeat_containing_nuclear_envelope_protein_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SYNE1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SYNE1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,8B|ARCA1|C6orf98|CPG2|dJ45H2.2|EDMD4|MYNE1|Nesp1|SCAR8;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_2|spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_1;transcript_id=,NM_033071.3|NM_182961.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon114:c.A20864C:p.E6955A,SYNE1:NM_182961:exon115:c.A21077C:p.E7026A;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs777755452;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;ExAC_ALL=8.246e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.5e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.002;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.996;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.62;MutationAssessor_pred=M;FATHMM_score=0.62;FATHMM_pred=T;PROVEAN_score=-5.61;PROVEAN_pred=D;VEST3_score=0.736;CADD_raw=4.901;CADD_phred=24.9;DANN_score=0.996;fathmm-MKL_coding_score=0.985;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.471;MetaSVM_pred=T;MetaLR_score=0.274;MetaLR_pred=T;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=5.76;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=1.061;phastCons7way_vertebrate=0.997;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=16.068;GDI_full_10282015=.;dpsi_max_tissue=-0.0567;dpsi_zscore=-0.294;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=1.22e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=2.978e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=1.795e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:31:0,20 . . . . . . 6 152558075 . G A 200.00 . #_unique_end_positions=,25;#_unique_start_positions=,22;AC=1;AN=1;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;Coding_region_change=,NM_033071.3:c.19863C>T|_NM_182961.3:c.20076C>T;Coding_region_change_in_longest_transcript=,NM_182961.3:c.20076C>T;Forward_read_coverage=,34;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:23345;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:23345;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:17089;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:17089;Homo_sapiens_refseq_GRCh37.p13_Genes=,SYNE1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_033071.3|NM_182961.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene15078;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21645|rna21644;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608441;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608441;Non-synonymous=,No;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene15078;QUAL=,200.0;Read_count=,28;Read_coverage=,72;Read_direction_test_probability=,0.636255909257144;Read_position_test_probability=,0.4389418486768194;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_033071.3|NM_182961.3;Reverse_read_coverage=,38;SF=32;conservation_score=,0.223;db_xref=,GeneID:23345|HGNC:HGNC:17089|MIM:608441;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_033071.3|Genbank:NM_182961.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,spectrin_repeat_containing_nuclear_envelope_protein_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SYNE1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SYNE1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,8B|ARCA1|C6orf98|CPG2|dJ45H2.2|EDMD4|MYNE1|Nesp1|SCAR8;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_2|spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_1;transcript_id=,NM_033071.3|NM_182961.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon108:c.C19863T:p.S6621S,SYNE1:NM_182961:exon109:c.C20076T:p.S6692S;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.3380;dpsi_zscore=-0.907;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:62:0,27 . . . . . . . . . 6 152589223 . T C 200.00 . #_unique_end_positions=,23;#_unique_start_positions=,20;AC=1;AN=1;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;Coding_region_change=,NM_033071.3:c.18570A>G|_NM_182961.3:c.18783A>G;Coding_region_change_in_longest_transcript=,NM_182961.3:c.18783A>G;Forward_read_coverage=,15;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:23345;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:23345;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:17089;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:17089;Homo_sapiens_refseq_GRCh37.p13_Genes=,SYNE1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_033071.3|NM_182961.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene15078;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21645|rna21644;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608441;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608441;Non-synonymous=,No;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene15078;QUAL=,200.0;Read_count=,32;Read_coverage=,59;Read_direction_test_probability=,0.9621362450024001;Read_position_test_probability=,0.9115234264528266;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_033071.3|NM_182961.3;Reverse_read_coverage=,44;SF=8;conservation_score=,0.216;db_xref=,GeneID:23345|HGNC:HGNC:17089|MIM:608441;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_033071.3|Genbank:NM_182961.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,spectrin_repeat_containing_nuclear_envelope_protein_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SYNE1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SYNE1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,8B|ARCA1|C6orf98|CPG2|dJ45H2.2|EDMD4|MYNE1|Nesp1|SCAR8;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_2|spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_1;transcript_id=,NM_033071.3|NM_182961.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon99:c.A18570G:p.Q6190Q,SYNE1:NM_182961:exon100:c.A18783G:p.Q6261Q;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs774395991;Kaviar_AF=4.53e-05;Kaviar_AC=7;Kaviar_AN=154602;ExAC_ALL=5.767e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0001;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=492985;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0832;dpsi_zscore=-0.395;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=3.251e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=4.485e-05;gnomAD_exome_NFE=5.378e-05;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=0;gnomAD_genome_ALL=6.459e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0006;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . 1:54:0,30 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6 152590337 290091;rs201685248 G T 200.00 . #_unique_end_positions=,35;#_unique_start_positions=,36;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0;AF_EXAC_clinvar_20171029_hg19=,0.00016;ALLELEID_clinvar_20171029_hg19=,274328;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0;AN=1;Amino_acid_change=,NP_149062.1:p.Arg6149Ser|_NP_892006.3:p.Arg6220Ser;Amino_acid_change_in_longest_transcript=,NP_892006.3:p.Arg6220Ser;BaseQRankSum=,-0.62;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.152590337G>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_single_submitter;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;Coding_region_change=,NM_033071.3:c.18445C>A|_NM_182961.3:c.18658C>A;Coding_region_change_in_longest_transcript=,NM_182961.3:c.18658C>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0;Exact_match=,clinvar_20171029_hg19|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,72;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:23345;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:23345;Genotype=,G/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:17089;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:17089;Homo_sapiens_refseq_GRCh37.p13_Genes=,SYNE1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_033071.3|NM_182961.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene15078;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21645|rna21644;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608441;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608441;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene15078;QUAL=,200.0;Read_count=,60;Read_coverage=,145;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.862636818713196;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_033071.3|NM_182961.3;Reverse_read_coverage=,73;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0;SF=0;conservation_score=,0.223;db_xref=,GeneID:23345|HGNC:HGNC:17089|MIM:608441;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_033071.3|Genbank:NM_182961.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,spectrin_repeat_containing_nuclear_envelope_protein_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SYNE1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SYNE1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,8B|ARCA1|C6orf98|CPG2|dJ45H2.2|EDMD4|MYNE1|Nesp1|SCAR8;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_2|spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_1;transcript_id=,NM_033071.3|NM_182961.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon98:c.C18445A:p.R6149S,SYNE1:NM_182961:exon99:c.C18658A:p.R6220S;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs201685248;Kaviar_AF=0.0001229;Kaviar_AC=19;Kaviar_AN=154602;ExAC_ALL=0.0002;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0001;ExAC_OTH=0.0011;ExAC_SAS=0.0005;CLNALLELEID=274328;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.061;SIFT_pred=T;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.946;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=2.175;MutationAssessor_pred=M;FATHMM_score=0.42;FATHMM_pred=T;PROVEAN_score=-3.29;PROVEAN_pred=D;VEST3_score=0.82;CADD_raw=5.057;CADD_phred=25.2;DANN_score=0.998;fathmm-MKL_coding_score=0.890;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.499;MetaSVM_pred=T;MetaLR_score=0.293;MetaLR_pred=T;integrated_fitCons_score=0.615;integrated_confidence_value=0;GERP++_RS=5.57;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.942;phastCons20way_mammalian=0.625;SiPhy_29way_logOdds=13.868;GDI_full_10282015=.;dpsi_max_tissue=-1.9943;dpsi_zscore=-1.900;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0001;gnomAD_exome_AFR=0;gnomAD_exome_AMR=2.978e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0001;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0.0005;gnomAD_genome_ALL=6.457e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0001;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=7 GT:DP:CLCAD2 1:115:0,48 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6 152615200 130414;rs12664753 G A 200.00 . #_unique_end_positions=,44;#_unique_start_positions=,33;AC=16;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0129;AF_ESP_clinvar_20171029_hg19=,0.1426;AF_EXAC_clinvar_20171029_hg19=,0.18751;AF_TGP_clinvar_20171029_hg19=,0.1478;ALLELEID_clinvar_20171029_hg19=,135861;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1729;AN=16;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.8522|0.1478;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001251|MedGen:C0007758|SNOMED_CT:85102008|MedGen:C0410189|Orphanet:ORPHA261|SNOMED_CT:111508004|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.152615200G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:41266;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_033071.3:c.17532C>T|_NM_182961.3:c.17745C>T;Coding_region_change_in_longest_transcript=,NM_182961.3:c.17745C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1677;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1938;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,35;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,SYNE1:23345;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:23345;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:23345;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:17089;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:17089;Homo_sapiens_refseq_GRCh37.p13_Genes=,SYNE1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_033071.3|NM_182961.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene15078;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21645|rna21644;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608441;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608441;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene15078;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,152615200;RS_dbsnp_common_v150_hg19_refseq=,12664753;Read_count=,60;Read_coverage=,105;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9926378448064791;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_033071.3|NM_182961.3;Reverse_read_coverage=,70;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2444;SF=0,3,8,9,11,13,14,16,19,20,22,26,32,36,37;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.877292|0.122708;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050168000305150537100100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.0416667;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.166667;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.2375;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.222892;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.244318;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.166667;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.244444;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.0113636;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.2;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.0034965;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.204545;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.09;db_xref=,GeneID:23345|HGNC:HGNC:17089|MIM:608441;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_033071.3|Genbank:NM_182961.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,spectrin_repeat_containing_nuclear_envelope_protein_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SYNE1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SYNE1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,8B|ARCA1|C6orf98|CPG2|dJ45H2.2|EDMD4|MYNE1|Nesp1|SCAR8;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_2|spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_1;transcript_id=,NM_033071.3|NM_182961.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon93:c.C17532T:p.H5844H,SYNE1:NM_182961:exon94:c.C17745T:p.H5915H;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.1425;esp6500siv2_ea=0.1917;esp6500siv2_all=0.1425;esp6500siv2_ea=0.1917;1000g2015aug_all=0.147764;avsnp147=rs12664753;Kaviar_AF=0.184098;Kaviar_AC=28462;Kaviar_AN=154602;ExAC_ALL=0.1875;ExAC_AFR=0.0368;ExAC_AMR=0.2182;ExAC_EAS=0.1907;ExAC_FIN=0.2311;ExAC_NFE=0.1932;ExAC_OTH=0.1872;ExAC_SAS=0.2189;CLNALLELEID=135861;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.5583;dpsi_zscore=1.190;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1913;gnomAD_exome_AFR=0.0339;gnomAD_exome_AMR=0.2212;gnomAD_exome_ASJ=0.1421;gnomAD_exome_EAS=0.1906;gnomAD_exome_FIN=0.2323;gnomAD_exome_NFE=0.1932;gnomAD_exome_OTH=0.1841;gnomAD_exome_SAS=0.2175;gnomAD_genome_ALL=0.1531;gnomAD_genome_AFR=0.0359;gnomAD_genome_AMR=0.1914;gnomAD_genome_ASJ=0.1523;gnomAD_genome_EAS=0.2043;gnomAD_genome_FIN=0.2279;gnomAD_genome_NFE=0.1927;gnomAD_genome_OTH=0.2065;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:93:0,52 . . 1/1:110:0,110 . . . . 1:120:0,61 1:105:0,54 . 1:110:0,52 . 1:133:0,57 1:176:0,89 . 1:117:0,52 . . 1:119:0,61 1:134:0,60 . 1:151:0,78 . . . 1:128:0,57 . . . . . 1:137:0,65 . . . 1:118:0,53 1:122:0,60 . . . . 6 152629631 130411;rs76160752 C T 200.00 . #_unique_end_positions=,36;#_unique_start_positions=,30;AC=3;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0552;AF_ESP_clinvar_20171029_hg19=,0.0259;AF_EXAC_clinvar_20171029_hg19=,0.01959;AF_TGP_clinvar_20171029_hg19=,0.0381;ALLELEID_clinvar_20171029_hg19=,135858;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0389;AN=3;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_149062.1:p.Arg5709Gln|_NP_892006.3:p.Arg5780Gln;Amino_acid_change_in_longest_transcript=,NP_892006.3:p.Arg5780Gln;BaseQRankSum=,0.16;CAF_dbsnp_common_v150_hg19_refseq=,0.9619|0.03814;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001251|MedGen:C0007758|SNOMED_CT:85102008|MedGen:C0410189|Orphanet:ORPHA261|SNOMED_CT:111508004|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.152629631C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:78173;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_033071.3:c.17126G>A|_NM_182961.3:c.17339G>A;Coding_region_change_in_longest_transcript=,NM_182961.3:c.17339G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0427;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0099;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,65;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,SYNE1:23345;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:23345;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:23345;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:17089;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:17089;Homo_sapiens_refseq_GRCh37.p13_Genes=,SYNE1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_033071.3|NM_182961.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene15078;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21645|rna21644;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608441;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608441;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene15078;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,152629631;RS_dbsnp_common_v150_hg19_refseq=,76160752;Read_count=,53;Read_coverage=,114;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9809999845745404;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_033071.3|NM_182961.3;Reverse_read_coverage=,49;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0389;SF=12,29,33;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.966653|0.0333471;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050168000a05150536100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.99;db_xref=,GeneID:23345|HGNC:HGNC:17089|MIM:608441;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_033071.3|Genbank:NM_182961.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,spectrin_repeat_containing_nuclear_envelope_protein_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SYNE1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SYNE1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,8B|ARCA1|C6orf98|CPG2|dJ45H2.2|EDMD4|MYNE1|Nesp1|SCAR8;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_2|spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_1;transcript_id=,NM_033071.3|NM_182961.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon90:c.G17126A:p.R5709Q,SYNE1:NM_182961:exon91:c.G17339A:p.R5780Q;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.0259;esp6500siv2_ea=0.0071;esp6500siv2_all=0.0259;esp6500siv2_ea=0.0071;1000g2015aug_all=0.038139;avsnp147=rs76160752;Kaviar_AF=0.0184668;Kaviar_AC=2855;Kaviar_AN=154602;ExAC_ALL=0.0196;ExAC_AFR=0.0575;ExAC_AMR=0.0230;ExAC_EAS=0.0392;ExAC_FIN=0.0023;ExAC_NFE=0.0080;ExAC_OTH=0.0154;ExAC_SAS=0.0371;CLNALLELEID=135858;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.062;SIFT_pred=T;Polyphen2_HDIV_score=0.38;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.145;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_pred=D;MutationTaster_score=0.901;MutationTaster_pred=D;MutationAssessor_score=0.55;MutationAssessor_pred=N;FATHMM_score=0.79;FATHMM_pred=T;PROVEAN_score=-1.08;PROVEAN_pred=N;VEST3_score=0.103;CADD_raw=6.154;CADD_phred=28.5;DANN_score=0.998;fathmm-MKL_coding_score=0.834;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.094;MetaSVM_pred=T;MetaLR_score=0.035;MetaLR_pred=T;integrated_fitCons_score=0.563;integrated_confidence_value=0;GERP++_RS=3.16;phyloP7way_vertebrate=-0.044;phyloP20way_mammalian=0.018;phastCons7way_vertebrate=0.994;phastCons20way_mammalian=0.995;SiPhy_29way_logOdds=9.129;GDI_full_10282015=.;dpsi_max_tissue=-0.6199;dpsi_zscore=-1.203;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0193;gnomAD_exome_AFR=0.0571;gnomAD_exome_AMR=0.0261;gnomAD_exome_ASJ=0.0314;gnomAD_exome_EAS=0.0390;gnomAD_exome_FIN=0.0023;gnomAD_exome_NFE=0.0066;gnomAD_exome_OTH=0.0201;gnomAD_exome_SAS=0.0360;gnomAD_genome_ALL=0.0235;gnomAD_genome_AFR=0.0565;gnomAD_genome_AMR=0.0227;gnomAD_genome_ASJ=0.0232;gnomAD_genome_EAS=0.0438;gnomAD_genome_FIN=0.0037;gnomAD_genome_NFE=0.0075;gnomAD_genome_OTH=0.0112;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:DP:CLCAD2 . . . . . . . . . . . . 1:99:0,46 . . . . . . . . . . . . . . . . 1:99:0,37 . . . 1:85:0,39 . . . . . . . . 6 152629631 130411;rs76160752 C T 200.00 . #_unique_end_positions=,36;#_unique_start_positions=,30;AC=3;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0552;AF_ESP_clinvar_20171029_hg19=,0.0259;AF_EXAC_clinvar_20171029_hg19=,0.01959;AF_TGP_clinvar_20171029_hg19=,0.0381;ALLELEID_clinvar_20171029_hg19=,135858;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0389;AN=3;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_149062.1:p.Arg5709Gln|_NP_892006.3:p.Arg5780Gln;Amino_acid_change_in_longest_transcript=,NP_892006.3:p.Arg5780Gln;BaseQRankSum=,0.16;CAF_dbsnp_common_v150_hg19_refseq=,0.9619|0.03814;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001251|MedGen:C0007758|SNOMED_CT:85102008|MedGen:C0410189|Orphanet:ORPHA261|SNOMED_CT:111508004|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.152629631C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:78173;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_033071.3:c.17126G>A|_NM_182961.3:c.17339G>A;Coding_region_change_in_longest_transcript=,NM_182961.3:c.17339G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0427;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0099;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,65;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,SYNE1:23345;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:23345;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:23345;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:17089;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:17089;Homo_sapiens_refseq_GRCh37.p13_Genes=,SYNE1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_033071.3|NM_182961.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene15078;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21645|rna21644;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608441;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608441;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene15078;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,152629631;RS_dbsnp_common_v150_hg19_refseq=,76160752;Read_count=,53;Read_coverage=,114;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9809999845745404;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_033071.3|NM_182961.3;Reverse_read_coverage=,49;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0389;SF=12,29,33;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.966653|0.0333471;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050168000a05150536100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.99;db_xref=,GeneID:23345|HGNC:HGNC:17089|MIM:608441;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_033071.3|Genbank:NM_182961.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,spectrin_repeat_containing_nuclear_envelope_protein_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SYNE1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SYNE1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,8B|ARCA1|C6orf98|CPG2|dJ45H2.2|EDMD4|MYNE1|Nesp1|SCAR8;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_2|spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_1;transcript_id=,NM_033071.3|NM_182961.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon90:c.G17126A:p.R5709Q,SYNE1:NM_182961:exon91:c.G17339A:p.R5780Q;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.0259;esp6500siv2_ea=0.0071;esp6500siv2_all=0.0259;esp6500siv2_ea=0.0071;1000g2015aug_all=0.038139;avsnp147=rs76160752;Kaviar_AF=0.0184668;Kaviar_AC=2855;Kaviar_AN=154602;ExAC_ALL=0.0196;ExAC_AFR=0.0575;ExAC_AMR=0.0230;ExAC_EAS=0.0392;ExAC_FIN=0.0023;ExAC_NFE=0.0080;ExAC_OTH=0.0154;ExAC_SAS=0.0371;CLNALLELEID=135858;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.062;SIFT_pred=T;Polyphen2_HDIV_score=0.38;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.145;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_pred=D;MutationTaster_score=0.901;MutationTaster_pred=D;MutationAssessor_score=0.55;MutationAssessor_pred=N;FATHMM_score=0.79;FATHMM_pred=T;PROVEAN_score=-1.08;PROVEAN_pred=N;VEST3_score=0.103;CADD_raw=6.154;CADD_phred=28.5;DANN_score=0.998;fathmm-MKL_coding_score=0.834;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.094;MetaSVM_pred=T;MetaLR_score=0.035;MetaLR_pred=T;integrated_fitCons_score=0.563;integrated_confidence_value=0;GERP++_RS=3.16;phyloP7way_vertebrate=-0.044;phyloP20way_mammalian=0.018;phastCons7way_vertebrate=0.994;phastCons20way_mammalian=0.995;SiPhy_29way_logOdds=9.129;GDI_full_10282015=.;dpsi_max_tissue=-0.6199;dpsi_zscore=-1.203;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0193;gnomAD_exome_AFR=0.0571;gnomAD_exome_AMR=0.0261;gnomAD_exome_ASJ=0.0314;gnomAD_exome_EAS=0.0390;gnomAD_exome_FIN=0.0023;gnomAD_exome_NFE=0.0066;gnomAD_exome_OTH=0.0201;gnomAD_exome_SAS=0.0360;gnomAD_genome_ALL=0.0235;gnomAD_genome_AFR=0.0565;gnomAD_genome_AMR=0.0227;gnomAD_genome_ASJ=0.0232;gnomAD_genome_EAS=0.0438;gnomAD_genome_FIN=0.0037;gnomAD_genome_NFE=0.0075;gnomAD_genome_OTH=0.0112;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:DP:CLCAD2 . . . . . . . . . . . . 1:99:0,46 . . . . . . . . . . . . . . . . 1:99:0,37 . . . 1:85:0,39 . . . . . . . . 6 152640110 130410;rs2306914 G A 172.63 . #_unique_end_positions=,24;#_unique_start_positions=,23;AC=3;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0015;AF_ESP_clinvar_20171029_hg19=,0.0200;AF_EXAC_clinvar_20171029_hg19=,0.03942;AF_TGP_clinvar_20171029_hg19=,0.0463;ALLELEID_clinvar_20171029_hg19=,135857;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0331;AN=3;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_149062.1:p.Thr5355Met|_NP_892006.3:p.Thr5426Met;Amino_acid_change_in_longest_transcript=,NP_892006.3:p.Thr5426Met;BaseQRankSum=,-0.48;CAF_dbsnp_common_v150_hg19_refseq=,0.9537|0.04633;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001251|MedGen:C0007758|SNOMED_CT:85102008|MedGen:C0410189|Orphanet:ORPHA261|SNOMED_CT:111508004|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.152640110G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:72006;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_033071.3:c.16064C>T|_NM_182961.3:c.16277C>T;Coding_region_change_in_longest_transcript=,NM_182961.3:c.16277C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1419;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0288;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,41;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,SYNE1:23345;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:23345;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:23345;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:17089;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:17089;Homo_sapiens_refseq_GRCh37.p13_Genes=,SYNE1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_033071.3|NM_182961.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene15078;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21645|rna21644;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608441;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608441;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene15078;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,152640110;RS_dbsnp_common_v150_hg19_refseq=,2306914;Read_count=,32;Read_coverage=,73;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.7507995539653217;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_033071.3|NM_182961.3;Reverse_read_coverage=,32;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0358;SF=0,15,25;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.978845|0.0211553;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050168000a05150537100101;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0309735;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.146341;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.123529;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.0340909;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.116279;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.127907;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.03;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.0284091;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.00847458;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.995;db_xref=,GeneID:23345|HGNC:HGNC:17089|MIM:608441;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_033071.3|Genbank:NM_182961.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,spectrin_repeat_containing_nuclear_envelope_protein_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SYNE1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SYNE1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,8B|ARCA1|C6orf98|CPG2|dJ45H2.2|EDMD4|MYNE1|Nesp1|SCAR8;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_2|spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_1;transcript_id=,NM_033071.3|NM_182961.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon84:c.C16064T:p.T5355M,SYNE1:NM_182961:exon85:c.C16277T:p.T5426M;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.0200;esp6500siv2_ea=0.0272;esp6500siv2_all=0.0200;esp6500siv2_ea=0.0272;1000g2015aug_all=0.0463259;avsnp147=rs2306914;Kaviar_AF=0.0382789;Kaviar_AC=5918;Kaviar_AN=154602;ExAC_ALL=0.0394;ExAC_AFR=0.0043;ExAC_AMR=0.0572;ExAC_EAS=0.1635;ExAC_FIN=0.0389;ExAC_NFE=0.0289;ExAC_OTH=0.0419;ExAC_SAS=0.0265;CLNALLELEID=135857;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.188;SIFT_pred=T;Polyphen2_HDIV_score=0.004;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_pred=B;LRT_score=0.006;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-0.92;MutationAssessor_pred=N;FATHMM_score=0.83;FATHMM_pred=T;PROVEAN_score=0.28;PROVEAN_pred=N;VEST3_score=0.036;CADD_raw=2.539;CADD_phred=19.72;DANN_score=0.613;fathmm-MKL_coding_score=0.081;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.022;MetaSVM_pred=T;MetaLR_score=0.017;MetaLR_pred=T;integrated_fitCons_score=0.615;integrated_confidence_value=0;GERP++_RS=0.286;phyloP7way_vertebrate=0.091;phyloP20way_mammalian=0.148;phastCons7way_vertebrate=0.997;phastCons20way_mammalian=0.999;SiPhy_29way_logOdds=9.452;GDI_full_10282015=.;dpsi_max_tissue=0.0507;dpsi_zscore=0.301;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0406;gnomAD_exome_AFR=0.0050;gnomAD_exome_AMR=0.0503;gnomAD_exome_ASJ=0.0153;gnomAD_exome_EAS=0.1651;gnomAD_exome_FIN=0.0400;gnomAD_exome_NFE=0.0292;gnomAD_exome_OTH=0.0381;gnomAD_exome_SAS=0.0283;gnomAD_genome_ALL=0.0331;gnomAD_genome_AFR=0.0063;gnomAD_genome_AMR=0.0406;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0.1593;gnomAD_genome_FIN=0.0401;gnomAD_genome_NFE=0.0336;gnomAD_genome_OTH=0.0316;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:62:0,28 . . . . . . . . . . . . . . 1:46:0,23 . . . . . . . . . 1:63:0,22 . . . . . . . . . . . . . . . . 6 152640138 426881;rs528055779 T C 200.00 . #_unique_end_positions=,28;#_unique_start_positions=,24;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;ALLELEID_clinvar_20171029_hg19=,415030;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AN=1;Amino_acid_change=,NP_149062.1:p.Ile5346Val|_NP_892006.3:p.Ile5417Val;Amino_acid_change_in_longest_transcript=,NP_892006.3:p.Ile5417Val;BaseQRankSum=,0.23;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.152640138T>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_single_submitter;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;Coding_region_change=,NM_033071.3:c.16036A>G|_NM_182961.3:c.16249A>G;Coding_region_change_in_longest_transcript=,NM_182961.3:c.16249A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;Exact_match=,clinvar_20171029_hg19|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,32;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:23345;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:23345;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:17089;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:17089;Homo_sapiens_refseq_GRCh37.p13_Genes=,SYNE1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_033071.3|NM_182961.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene15078;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21645|rna21644;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608441;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608441;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene15078;QUAL=,200.0;Read_count=,35;Read_coverage=,67;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9805401304125687;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_033071.3|NM_182961.3;Reverse_read_coverage=,35;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=13;conservation_score=,0.998;db_xref=,GeneID:23345|HGNC:HGNC:17089|MIM:608441;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_033071.3|Genbank:NM_182961.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,spectrin_repeat_containing_nuclear_envelope_protein_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SYNE1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SYNE1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,8B|ARCA1|C6orf98|CPG2|dJ45H2.2|EDMD4|MYNE1|Nesp1|SCAR8;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_2|spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_1;transcript_id=,NM_033071.3|NM_182961.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon84:c.A16036G:p.I5346V,SYNE1:NM_182961:exon85:c.A16249G:p.I5417V;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.000199681;avsnp147=rs528055779;Kaviar_AF=3.88e-05;Kaviar_AC=6;Kaviar_AN=154602;ExAC_ALL=4.175e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0.0002;ExAC_FIN=0;ExAC_NFE=4.561e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=415030;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.049;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=N;MutationAssessor_score=-1.61;MutationAssessor_pred=N;FATHMM_score=0.85;FATHMM_pred=T;PROVEAN_score=0.0;PROVEAN_pred=N;VEST3_score=0.064;CADD_raw=0.005;CADD_phred=2.630;DANN_score=0.912;fathmm-MKL_coding_score=0.136;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.921;MetaSVM_pred=T;MetaLR_score=0.009;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=2.88;phyloP7way_vertebrate=-0.068;phyloP20way_mammalian=-0.136;phastCons7way_vertebrate=0.962;phastCons20way_mammalian=0.967;SiPhy_29way_logOdds=5.419;GDI_full_10282015=.;dpsi_max_tissue=0.2141;dpsi_zscore=0.750;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=2.438e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0;gnomAD_exome_NFE=2.687e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:DP:CLCAD2 . . . . . . . . . . . . . 1:61:0,32 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6 152646279 130409;rs9383987 G C 200.00 . #_unique_end_positions=,45;#_unique_start_positions=,39;AC=3;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0598;AF_ESP_clinvar_20171029_hg19=,0.0353;AF_EXAC_clinvar_20171029_hg19=,0.04426;AF_TGP_clinvar_20171029_hg19=,0.0623;ALLELEID_clinvar_20171029_hg19=,135856;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0303;AN=3;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.15;CAF_dbsnp_common_v150_hg19_refseq=,0.9377|0.0623;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001251|MedGen:C0007758|SNOMED_CT:85102008|MedGen:C0410189|Orphanet:ORPHA261|SNOMED_CT:111508004|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.152646279G>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:72026;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_033071.3:c.15384C>G|_NM_182961.3:c.15597C>G;Coding_region_change_in_longest_transcript=,NM_182961.3:c.15597C>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1419;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0308;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,84;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,SYNE1:23345;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:23345;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:23345;Genotype=,C/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:17089;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:17089;Homo_sapiens_refseq_GRCh37.p13_Genes=,SYNE1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_033071.3|NM_182961.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene15078;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21645|rna21644;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608441;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608441;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene15078;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,152646279;RS_dbsnp_common_v150_hg19_refseq=,9383987;Read_count=,77;Read_coverage=,151;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.8492144907953892;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_033071.3|NM_182961.3;Reverse_read_coverage=,67;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0389;SF=0,15,25;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.959269|0.0407308;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050168000305150136100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:23345|HGNC:HGNC:17089|MIM:608441;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_033071.3|Genbank:NM_182961.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,spectrin_repeat_containing_nuclear_envelope_protein_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SYNE1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SYNE1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,8B|ARCA1|C6orf98|CPG2|dJ45H2.2|EDMD4|MYNE1|Nesp1|SCAR8;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_2|spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_1;transcript_id=,NM_033071.3|NM_182961.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon80:c.C15384G:p.A5128A,SYNE1:NM_182961:exon81:c.C15597G:p.A5199A;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.0353;esp6500siv2_ea=0.0280;esp6500siv2_all=0.0353;esp6500siv2_ea=0.0280;1000g2015aug_all=0.0623003;avsnp147=rs9383987;Kaviar_AF=0.042548;Kaviar_AC=6578;Kaviar_AN=154602;ExAC_ALL=0.0443;ExAC_AFR=0.0473;ExAC_AMR=0.0580;ExAC_EAS=0.1592;ExAC_FIN=0.0346;ExAC_NFE=0.0298;ExAC_OTH=0.0430;ExAC_SAS=0.0348;CLNALLELEID=135856;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1710;dpsi_zscore=-0.627;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0446;gnomAD_exome_AFR=0.0490;gnomAD_exome_AMR=0.0526;gnomAD_exome_ASJ=0.0159;gnomAD_exome_EAS=0.1616;gnomAD_exome_FIN=0.0357;gnomAD_exome_NFE=0.0305;gnomAD_exome_OTH=0.0390;gnomAD_exome_SAS=0.0364;gnomAD_genome_ALL=0.0448;gnomAD_genome_AFR=0.0506;gnomAD_genome_AMR=0.0406;gnomAD_genome_ASJ=0.0099;gnomAD_genome_EAS=0.1533;gnomAD_genome_FIN=0.0358;gnomAD_genome_NFE=0.0334;gnomAD_genome_OTH=0.0349;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:123:0,61 . . . . . . . . . . . . . . 1:154:0,76 . . . . . . . . . 1:114:0,60 . . . . . . . . . . . . . . . . 6 152646308 198942 G C 200.00 . #_unique_end_positions=,27;#_unique_start_positions=,28;AC=1;AF_ESP_clinvar_20171029_hg19=,0.0005;AF_EXAC_clinvar_20171029_hg19=,0.00080;ALLELEID_clinvar_20171029_hg19=,196102;AN=1;Amino_acid_change=,NP_149062.1:p.Gln5119Glu|_NP_892006.3:p.Gln5190Glu;Amino_acid_change_in_longest_transcript=,NP_892006.3:p.Gln5190Glu;BaseQRankSum=,0.2;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.152646308G>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_single_submitter;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;Coding_region_change=,NM_033071.3:c.15355C>G|_NM_182961.3:c.15568C>G;Coding_region_change_in_longest_transcript=,NM_182961.3:c.15568C>G;Exact_match=,clinvar_20171029_hg19;Forward_read_coverage=,43;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:23345;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:23345;Genotype=,C/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:17089;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:17089;Homo_sapiens_refseq_GRCh37.p13_Genes=,SYNE1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_033071.3|NM_182961.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene15078;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21645|rna21644;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608441;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608441;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene15078;QUAL=,200.0;Read_count=,43;Read_coverage=,85;Read_direction_test_probability=,0.9996157468500935;Read_position_test_probability=,0.8284326266150291;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_033071.3|NM_182961.3;Reverse_read_coverage=,42;SF=19;conservation_score=,1.0;db_xref=,GeneID:23345|HGNC:HGNC:17089|MIM:608441;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_033071.3|Genbank:NM_182961.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,spectrin_repeat_containing_nuclear_envelope_protein_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SYNE1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SYNE1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,8B|ARCA1|C6orf98|CPG2|dJ45H2.2|EDMD4|MYNE1|Nesp1|SCAR8;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_2|spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_1;transcript_id=,NM_033071.3|NM_182961.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon80:c.C15355G:p.Q5119E,SYNE1:NM_182961:exon81:c.C15568G:p.Q5190E;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.0005;esp6500siv2_ea=0.0007;esp6500siv2_all=0.0005;esp6500siv2_ea=0.0007;1000g2015aug_all=.;avsnp147=rs138368397;Kaviar_AF=0.0007244;Kaviar_AC=112;Kaviar_AN=154602;ExAC_ALL=0.0008;ExAC_AFR=9.61e-05;ExAC_AMR=0.0003;ExAC_EAS=0;ExAC_FIN=0.0003;ExAC_NFE=0.0014;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=196102;CLNDN=Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.71;SIFT_pred=T;Polyphen2_HDIV_score=0.995;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.84;Polyphen2_HVAR_pred=P;LRT_score=0.009;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=1.65;MutationAssessor_pred=L;FATHMM_score=1.45;FATHMM_pred=T;PROVEAN_score=-0.25;PROVEAN_pred=N;VEST3_score=0.469;CADD_raw=4.278;CADD_phred=24.0;DANN_score=0.992;fathmm-MKL_coding_score=0.994;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.100;MetaSVM_pred=T;MetaLR_score=0.078;MetaLR_pred=T;integrated_fitCons_score=0.500;integrated_confidence_value=0;GERP++_RS=5.81;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.998;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=20.091;GDI_full_10282015=.;dpsi_max_tissue=-0.4591;dpsi_zscore=-1.050;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0005;gnomAD_exome_AFR=0.0003;gnomAD_exome_AMR=0.0001;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0001;gnomAD_exome_NFE=0.0010;gnomAD_exome_OTH=0.0005;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0003;gnomAD_genome_AFR=0.0002;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0003;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . 1:71:0,35 . . . . . . . . . . . . . . . . . . . . . . 6 152646407 355865;rs187403476 C T 200.00 . #_unique_end_positions=,25;#_unique_start_positions=,24;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_EXAC_clinvar_20171029_hg19=,0.00035;AF_TGP_clinvar_20171029_hg19=,0.0006;ALLELEID_clinvar_20171029_hg19=,301924;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AN=1;Amino_acid_change=,NP_892006.3:p.Glu5157Lys|_NP_149062.1:p.Glu5086Lys;Amino_acid_change_in_longest_transcript=,NP_892006.3:p.Glu5157Lys;BaseQRankSum=,-0.23;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001251|MedGen:C0007758|SNOMED_CT:85102008|MedGen:C0410189|Orphanet:ORPHA261|SNOMED_CT:111508004;CLNDN_clinvar_20171029_hg19=,Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.152646407C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_single_submitter;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:731210;Coding_region_change=,NM_033071.3:c.15256G>A|_NM_182961.3:c.15469G>A;Coding_region_change_in_longest_transcript=,NM_182961.3:c.15469G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0030;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;Exact_match=,clinvar_20171029_hg19|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,26;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:23345;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:23345;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:17089;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:17089;Homo_sapiens_refseq_GRCh37.p13_Genes=,SYNE1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_033071.3|NM_182961.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene15078;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21645|rna21644;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608441;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608441;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene15078;QUAL=,200.0;Read_count=,39;Read_coverage=,107;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.5227107045503002;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_033071.3|NM_182961.3;Reverse_read_coverage=,81;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=13;conservation_score=,0.996;db_xref=,GeneID:23345|HGNC:HGNC:17089|MIM:608441;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_033071.3|Genbank:NM_182961.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,spectrin_repeat_containing_nuclear_envelope_protein_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SYNE1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SYNE1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,8B|ARCA1|C6orf98|CPG2|dJ45H2.2|EDMD4|MYNE1|Nesp1|SCAR8;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_2|spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_1;transcript_id=,NM_033071.3|NM_182961.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon80:c.G15256A:p.E5086K,SYNE1:NM_182961:exon81:c.G15469A:p.E5157K;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.000599042;avsnp147=rs187403476;Kaviar_AF=0.0002975;Kaviar_AC=46;Kaviar_AN=154602;ExAC_ALL=0.0004;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0.0046;ExAC_FIN=0;ExAC_NFE=4.496e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=301924;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=0.008;SIFT_pred=D;Polyphen2_HDIV_score=0.554;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.144;Polyphen2_HVAR_pred=B;LRT_score=0.166;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.42;MutationAssessor_pred=M;FATHMM_score=1.23;FATHMM_pred=T;PROVEAN_score=-2.63;PROVEAN_pred=D;VEST3_score=0.299;CADD_raw=4.570;CADD_phred=24.4;DANN_score=0.983;fathmm-MKL_coding_score=0.998;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.862;MetaSVM_pred=T;MetaLR_score=0.148;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.78;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.892;phastCons7way_vertebrate=0.999;phastCons20way_mammalian=0.989;SiPhy_29way_logOdds=20.072;GDI_full_10282015=.;dpsi_max_tissue=-0.1832;dpsi_zscore=-0.653;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0003;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0.0045;gnomAD_exome_FIN=0;gnomAD_exome_NFE=2.686e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0001;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0.0025;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:DP:CLCAD2 . . . . . . . . . . . . . 1:101:0,36 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6 152647681 130408;rs2306916 A T 191.62 . #_unique_end_positions=,44;#_unique_start_positions=,46;AC=61;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9546;ALLELEID_clinvar_20171029_hg19=,135855;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.8444;AN=61;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_149062.1:p.Leu4944Met|_NP_892006.3:p.Leu5015Met;Amino_acid_change_in_longest_transcript=,NP_892006.3:p.Leu5015Met;BaseQRankSum=,-0.13;CAF_dbsnp_common_v150_hg19_refseq=,0.1853|0.8147;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001251|MedGen:C0007758|SNOMED_CT:85102008|MedGen:C0410189|Orphanet:ORPHA261|SNOMED_CT:111508004|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.152647681A>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:41299;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_033071.3:c.14830T>A|_NM_182961.3:c.15043T>A;Coding_region_change_in_longest_transcript=,NM_182961.3:c.15043T>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.8492;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7475;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,54;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,SYNE1:23345;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:23345;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:23345;Genotype=,T/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:17089;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:17089;Homo_sapiens_refseq_GRCh37.p13_Genes=,SYNE1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_033071.3|NM_182961.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene15078;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21645|rna21644;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608441;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608441;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene15078;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,152647681;RS_dbsnp_common_v150_hg19_refseq=,2306916;Read_count=,102;Read_coverage=,102;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_033071.3|NM_182961.3;Reverse_read_coverage=,48;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6380;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.169895|0.830105;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050168000a0515053f100101;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.781818;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.833333;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.869048;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.966667;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.944;db_xref=,GeneID:23345|HGNC:HGNC:17089|MIM:608441;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_033071.3|Genbank:NM_182961.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,spectrin_repeat_containing_nuclear_envelope_protein_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SYNE1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SYNE1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,8B|ARCA1|C6orf98|CPG2|dJ45H2.2|EDMD4|MYNE1|Nesp1|SCAR8;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_2|spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_1;transcript_id=,NM_033071.3|NM_182961.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon78:c.T14830A:p.L4944M,SYNE1:NM_182961:exon79:c.T15043A:p.L5015M;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.8105;esp6500siv2_ea=0.7494;esp6500siv2_all=0.8105;esp6500siv2_ea=0.7494;1000g2015aug_all=0.814696;avsnp147=rs2306916;Kaviar_AF=0.771588;Kaviar_AC=119289;Kaviar_AN=154602;ExAC_ALL=0.7797;ExAC_AFR=0.9316;ExAC_AMR=0.8756;ExAC_EAS=0.8384;ExAC_FIN=0.8531;ExAC_NFE=0.7581;ExAC_OTH=0.7753;ExAC_SAS=0.6443;CLNALLELEID=135855;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.635;SIFT_pred=T;Polyphen2_HDIV_score=0.015;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.02;Polyphen2_HVAR_pred=B;LRT_score=0.009;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.695;MutationAssessor_pred=N;FATHMM_score=1.24;FATHMM_pred=T;PROVEAN_score=-0.07;PROVEAN_pred=N;VEST3_score=0.073;CADD_raw=1.978;CADD_phred=16.07;DANN_score=0.785;fathmm-MKL_coding_score=0.734;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.977;MetaSVM_pred=T;MetaLR_score=0.012;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=3.2;phyloP7way_vertebrate=-0.443;phyloP20way_mammalian=0.088;phastCons7way_vertebrate=0.980;phastCons20way_mammalian=0.996;SiPhy_29way_logOdds=6.207;GDI_full_10282015=.;dpsi_max_tissue=-0.0147;dpsi_zscore=-0.070;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.7825;gnomAD_exome_AFR=0.9362;gnomAD_exome_AMR=0.8716;gnomAD_exome_ASJ=0.7130;gnomAD_exome_EAS=0.8406;gnomAD_exome_FIN=0.8501;gnomAD_exome_NFE=0.7562;gnomAD_exome_OTH=0.7694;gnomAD_exome_SAS=0.6471;gnomAD_genome_ALL=0.8331;gnomAD_genome_AFR=0.9341;gnomAD_genome_AMR=0.8592;gnomAD_genome_ASJ=0.6887;gnomAD_genome_EAS=0.8358;gnomAD_genome_FIN=0.8481;gnomAD_genome_NFE=0.7754;gnomAD_genome_OTH=0.7802;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1/1:87:0,87 1/1:106:0,106 1/1:89:0,89 1:66:0,28 1/1:78:0,78 1/1:82:0,82 1:85:0,44 1:90:0,47 1:99:0,40 1:94:0,50 1/1:106:0,106 1:80:0,33 1:77:0,30 1/1:114:0,114 1:121:0,62 1:98:0,47 1:84:0,30 1/1:101:0,101 1/1:94:0,94 1/1:97:0,97 1/1:112:0,112 1/1:105:0,105 1:106:0,45 1:117:0,49 1:97:0,36 1/1:70:0,70 1/1:79:0,79 1/1:129:0,129 1:110:0,57 1/1:112:0,112 1/1:104:0,104 1:74:0,27 1:105:0,49 1/1:88:0,88 1/1:110:0,110 1:109:0,42 1:117:0,53 1:88:0,40 1:93:0,47 1/1:95:0,95 1:97:0,43 . 6 152650903 130407;rs35085679 G A 200.00 . #_unique_end_positions=,55;#_unique_start_positions=,42;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0333;AF_ESP_clinvar_20171029_hg19=,0.0394;AF_EXAC_clinvar_20171029_hg19=,0.03422;AF_TGP_clinvar_20171029_hg19=,0.0338;ALLELEID_clinvar_20171029_hg19=,135854;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0245;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.14;CAF_dbsnp_common_v150_hg19_refseq=,0.9663|0.03375|.;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001251|MedGen:C0007758|SNOMED_CT:85102008|MedGen:C0410189|Orphanet:ORPHA261|SNOMED_CT:111508004|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.152650903G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:91068;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_033071.3:c.14704C>T|_NM_182961.3:c.14917C>T;Coding_region_change_in_longest_transcript=,NM_182961.3:c.14917C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0198;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0368;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,122;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,SYNE1:23345;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:23345;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:23345;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:17089;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:17089;Homo_sapiens_refseq_GRCh37.p13_Genes=,SYNE1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_033071.3|NM_182961.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene15078;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21645|rna21644;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608441;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608441;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene15078;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,152650903;RS_dbsnp_common_v150_hg19_refseq=,35085679;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,82;Read_coverage=,160;Read_direction_test_probability=,0.9999981166676999;Read_position_test_probability=,0.7191588307618784;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_033071.3|NM_182961.3;Reverse_read_coverage=,38;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0521;SF=9;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.964524|0.0354763|.;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050168000b05150536100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.99;db_xref=,GeneID:23345|HGNC:HGNC:17089|MIM:608441;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_033071.3|Genbank:NM_182961.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,spectrin_repeat_containing_nuclear_envelope_protein_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SYNE1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SYNE1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,8B|ARCA1|C6orf98|CPG2|dJ45H2.2|EDMD4|MYNE1|Nesp1|SCAR8;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_2|spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_1;transcript_id=,NM_033071.3|NM_182961.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon77:c.C14704T:p.L4902L,SYNE1:NM_182961:exon78:c.C14917T:p.L4973L;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.0394;esp6500siv2_ea=0.0436;esp6500siv2_all=0.0394;esp6500siv2_ea=0.0436;1000g2015aug_all=0.033746;avsnp147=rs35085679;Kaviar_AF=0.0345468;Kaviar_AC=5341;Kaviar_AN=154602;ExAC_ALL=0.0342;ExAC_AFR=0.0289;ExAC_AMR=0.0126;ExAC_EAS=0.0227;ExAC_FIN=0.0186;ExAC_NFE=0.0386;ExAC_OTH=0.0330;ExAC_SAS=0.0474;CLNALLELEID=135854;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0008;dpsi_zscore=0.016;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0331;gnomAD_exome_AFR=0.0295;gnomAD_exome_AMR=0.0152;gnomAD_exome_ASJ=0.0432;gnomAD_exome_EAS=0.0231;gnomAD_exome_FIN=0.0146;gnomAD_exome_NFE=0.0396;gnomAD_exome_OTH=0.0317;gnomAD_exome_SAS=0.0467;gnomAD_genome_ALL=0.0310;gnomAD_genome_AFR=0.0274;gnomAD_genome_AMR=0.0191;gnomAD_genome_ASJ=0.0497;gnomAD_genome_EAS=0.0247;gnomAD_genome_FIN=0.0135;gnomAD_genome_NFE=0.0382;gnomAD_genome_OTH=0.0296;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . 1:155:0,77 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6 152651557 198671;rs41301343 G A 200.00 . #_unique_end_positions=,68;#_unique_start_positions=,60;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0014;AF_EXAC_clinvar_20171029_hg19=,0.00101;AF_TGP_clinvar_20171029_hg19=,0.0004;ALLELEID_clinvar_20171029_hg19=,195832;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0014;AN=1;Amino_acid_change=,NP_149062.1:p.Leu4684Phe|_NP_892006.3:p.Leu4755Phe;Amino_acid_change_in_longest_transcript=,NP_892006.3:p.Leu4755Phe;BaseQRankSum=,-0.14;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001251|MedGen:C0007758|SNOMED_CT:85102008|MedGen:C0410189|Orphanet:ORPHA261|SNOMED_CT:111508004|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.152651557G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_conflicting_interpretations;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:123908;Coding_region_change=,NM_033071.3:c.14050C>T|_NM_182961.3:c.14263C>T;Coding_region_change_in_longest_transcript=,NM_182961.3:c.14263C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;Exact_match=,clinvar_20171029_hg19|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,177;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:23345;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:23345;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:17089;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:17089;Homo_sapiens_refseq_GRCh37.p13_Genes=,SYNE1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_033071.3|NM_182961.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene15078;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21645|rna21644;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608441;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608441;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene15078;QUAL=,200.0;Read_count=,128;Read_coverage=,277;Read_direction_test_probability=,0.9955168500149513;Read_position_test_probability=,0.972067968912076;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_033071.3|NM_182961.3;Reverse_read_coverage=,100;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=39;conservation_score=,0.028;db_xref=,GeneID:23345|HGNC:HGNC:17089|MIM:608441;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_033071.3|Genbank:NM_182961.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,spectrin_repeat_containing_nuclear_envelope_protein_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SYNE1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SYNE1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,8B|ARCA1|C6orf98|CPG2|dJ45H2.2|EDMD4|MYNE1|Nesp1|SCAR8;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_2|spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_1;transcript_id=,NM_033071.3|NM_182961.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon77:c.C14050T:p.L4684F,SYNE1:NM_182961:exon78:c.C14263T:p.L4755F;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.0014;esp6500siv2_ea=0.0019;esp6500siv2_all=0.0014;esp6500siv2_ea=0.0019;1000g2015aug_all=0.000399361;avsnp147=rs41301343;Kaviar_AF=0.0009379;Kaviar_AC=145;Kaviar_AN=154602;ExAC_ALL=0.0010;ExAC_AFR=0.0004;ExAC_AMR=0.0002;ExAC_EAS=0;ExAC_FIN=0.0008;ExAC_NFE=0.0017;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=195832;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.007;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.956;Polyphen2_HVAR_pred=D;LRT_score=0.002;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=1.65;MutationAssessor_pred=L;FATHMM_score=-0.07;FATHMM_pred=T;PROVEAN_score=-2.0;PROVEAN_pred=N;VEST3_score=0.676;CADD_raw=4.364;CADD_phred=24.1;DANN_score=0.994;fathmm-MKL_coding_score=0.971;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.434;MetaSVM_pred=T;MetaLR_score=0.284;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=3.95;phyloP7way_vertebrate=-0.044;phyloP20way_mammalian=0.998;phastCons7way_vertebrate=0.692;phastCons20way_mammalian=0.939;SiPhy_29way_logOdds=16.437;GDI_full_10282015=.;dpsi_max_tissue=-0.0037;dpsi_zscore=0.003;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0009;gnomAD_exome_AFR=0.0004;gnomAD_exome_AMR=0.0001;gnomAD_exome_ASJ=0.0003;gnomAD_exome_EAS=5.798e-05;gnomAD_exome_FIN=0.0008;gnomAD_exome_NFE=0.0017;gnomAD_exome_OTH=0.0005;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0009;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0019;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:255:0,119 . . 6 152651759 130405;rs3734365 C G 200.00 . #_unique_end_positions=,49;#_unique_start_positions=,44;AC=7;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0469;AF_ESP_clinvar_20171029_hg19=,0.0547;AF_EXAC_clinvar_20171029_hg19=,0.09593;AF_TGP_clinvar_20171029_hg19=,0.1651;ALLELEID_clinvar_20171029_hg19=,135852;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0677;AN=7;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.2;CAF_dbsnp_common_v150_hg19_refseq=,0.8349|0.1651;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001251|MedGen:C0007758|SNOMED_CT:85102008|MedGen:C0410189|Orphanet:ORPHA261|SNOMED_CT:111508004|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.152651759C>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:41319;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_033071.3:c.13848G>C|_NM_182961.3:c.14061G>C;Coding_region_change_in_longest_transcript=,NM_182961.3:c.14061G>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4841;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0736;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,78;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,SYNE1:23345;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:23345;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:23345;Genotype=,C/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:17089;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:17089;Homo_sapiens_refseq_GRCh37.p13_Genes=,SYNE1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_033071.3|NM_182961.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene15078;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21645|rna21644;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608441;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608441;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene15078;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,152651759;RS_dbsnp_common_v150_hg19_refseq=,3734365;Read_count=,80;Read_coverage=,205;Read_direction_test_probability=,0.9458701714733001;Read_position_test_probability=,0.9994503401486434;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_033071.3|NM_182961.3;Reverse_read_coverage=,127;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1595;SF=2,5,12,18,20,32,33;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.940243|0.0597569;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050168000305150537100100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.05;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.488889;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.422222;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.00833333;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.946;db_xref=,GeneID:23345|HGNC:HGNC:17089|MIM:608441;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_033071.3|Genbank:NM_182961.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,spectrin_repeat_containing_nuclear_envelope_protein_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SYNE1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SYNE1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,8B|ARCA1|C6orf98|CPG2|dJ45H2.2|EDMD4|MYNE1|Nesp1|SCAR8;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_2|spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_1;transcript_id=,NM_033071.3|NM_182961.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon77:c.G13848C:p.L4616L,SYNE1:NM_182961:exon78:c.G14061C:p.L4687L;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.0547;esp6500siv2_ea=0.0621;esp6500siv2_all=0.0547;esp6500siv2_ea=0.0621;1000g2015aug_all=0.165136;avsnp147=rs3734365;Kaviar_AF=0.0929289;Kaviar_AC=14367;Kaviar_AN=154602;ExAC_ALL=0.0959;ExAC_AFR=0.0446;ExAC_AMR=0.0619;ExAC_EAS=0.4308;ExAC_FIN=0.0735;ExAC_NFE=0.0592;ExAC_OTH=0.1027;ExAC_SAS=0.1342;CLNALLELEID=135852;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0021;dpsi_zscore=0.011;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0951;gnomAD_exome_AFR=0.0404;gnomAD_exome_AMR=0.0644;gnomAD_exome_ASJ=0.0472;gnomAD_exome_EAS=0.4239;gnomAD_exome_FIN=0.0713;gnomAD_exome_NFE=0.0600;gnomAD_exome_OTH=0.0832;gnomAD_exome_SAS=0.1324;gnomAD_genome_ALL=0.0780;gnomAD_genome_AFR=0.0388;gnomAD_genome_AMR=0.0668;gnomAD_genome_ASJ=0.0530;gnomAD_genome_EAS=0.4485;gnomAD_genome_FIN=0.0733;gnomAD_genome_NFE=0.0639;gnomAD_genome_OTH=0.0682;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . 1:192:0,78 . . 1:188:0,91 . . . . . . 1:234:0,126 . . . . . 1:176:0,99 . 1:187:0,103 . . . . . . . . . . . 1:184:0,93 1:163:0,72 . . . . . . . . 6 152652034 130404;rs6911096 A T 191.77 . #_unique_end_positions=,70;#_unique_start_positions=,53;AC=61;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9070;ALLELEID_clinvar_20171029_hg19=,135851;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.8386;AN=61;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_892006.3:p.Ser4596Thr|_NP_149062.1:p.Ser4525Thr;Amino_acid_change_in_longest_transcript=,NP_892006.3:p.Ser4596Thr;BaseQRankSum=,0.68;CAF_dbsnp_common_v150_hg19_refseq=,0.1967|0.8033;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001251|MedGen:C0007758|SNOMED_CT:85102008|MedGen:C0410189|Orphanet:ORPHA261|SNOMED_CT:111508004|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.152652034A>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:41329;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_033071.3:c.13573T>A|_NM_182961.3:c.13786T>A;Coding_region_change_in_longest_transcript=,NM_182961.3:c.13786T>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.8591;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7475;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,71;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,SYNE1:23345;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:23345;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:23345;Genotype=,T/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:17089;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:17089;Homo_sapiens_refseq_GRCh37.p13_Genes=,SYNE1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_033071.3|NM_182961.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene15078;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21645|rna21644;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608441;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608441;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene15078;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,152652034;RS_dbsnp_common_v150_hg19_refseq=,6911096;Read_count=,102;Read_coverage=,102;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_033071.3|NM_182961.3;Reverse_read_coverage=,31;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6380;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.188303|0.811697;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050168000a0517053f100100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.826531;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.752212;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.890244;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.829412;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.636364;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.825581;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.895349;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.855556;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.82;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.705674;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.727273;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.938053;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.0;db_xref=,GeneID:23345|HGNC:HGNC:17089|MIM:608441;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_033071.3|Genbank:NM_182961.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,spectrin_repeat_containing_nuclear_envelope_protein_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SYNE1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SYNE1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,8B|ARCA1|C6orf98|CPG2|dJ45H2.2|EDMD4|MYNE1|Nesp1|SCAR8;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_2|spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_1;transcript_id=,NM_033071.3|NM_182961.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon77:c.T13573A:p.S4525T,SYNE1:NM_182961:exon78:c.T13786A:p.S4596T;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.7959;esp6500siv2_ea=0.7490;esp6500siv2_all=0.7959;esp6500siv2_ea=0.7490;1000g2015aug_all=0.803315;avsnp147=rs6911096;Kaviar_AF=0.768211;Kaviar_AC=118767;Kaviar_AN=154602;ExAC_ALL=0.7760;ExAC_AFR=0.8869;ExAC_AMR=0.8730;ExAC_EAS=0.8461;ExAC_FIN=0.8531;ExAC_NFE=0.7577;ExAC_OTH=0.7731;ExAC_SAS=0.6448;CLNALLELEID=135851;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.602;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.130;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.69;MutationAssessor_pred=N;FATHMM_score=1.35;FATHMM_pred=T;PROVEAN_score=-0.17;PROVEAN_pred=N;VEST3_score=0.01;CADD_raw=-5.477;CADD_phred=0.001;DANN_score=0.200;fathmm-MKL_coding_score=0.021;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.024;MetaSVM_pred=T;MetaLR_score=0.008;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=-11.9;phyloP7way_vertebrate=-2.214;phyloP20way_mammalian=-3.450;phastCons7way_vertebrate=0.533;phastCons20way_mammalian=0.002;SiPhy_29way_logOdds=2.429;GDI_full_10282015=.;dpsi_max_tissue=0.0038;dpsi_zscore=0.027;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.7798;gnomAD_exome_AFR=0.8914;gnomAD_exome_AMR=0.8691;gnomAD_exome_ASJ=0.7118;gnomAD_exome_EAS=0.8473;gnomAD_exome_FIN=0.8501;gnomAD_exome_NFE=0.7561;gnomAD_exome_OTH=0.7672;gnomAD_exome_SAS=0.6479;gnomAD_genome_ALL=0.8219;gnomAD_genome_AFR=0.8947;gnomAD_genome_AMR=0.8568;gnomAD_genome_ASJ=0.6887;gnomAD_genome_EAS=0.8465;gnomAD_genome_FIN=0.8479;gnomAD_genome_NFE=0.7745;gnomAD_genome_OTH=0.7760;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1/1:97:0,97 1/1:145:0,145 1/1:153:0,153 1:109:0,56 1/1:119:0,119 1/1:103:0,103 1:73:0,35 1:117:0,49 1:151:0,84 1:108:0,54 1/1:167:0,167 1:118:0,65 1:130:0,68 1/1:115:0,115 1:164:0,87 1:126:0,53 1:105:0,52 1/1:147:0,147 1/1:111:0,111 1/1:102:0,102 1/1:167:0,167 1/1:135:0,135 1:131:0,67 1:125:0,63 1:134:0,69 1/1:117:0,117 1/1:127:0,127 1/1:181:0,181 1:126:0,67 1/1:167:0,167 1/1:146:0,146 1:84:0,42 1:113:0,61 1/1:106:0,106 1/1:150:0,150 1:136:0,74 1:118:0,66 1:116:0,63 1:111:0,61 1/1:139:0,139 1:131:0,53 . 6 152652599 130403;rs10499268 G A 200.00 . #_unique_end_positions=,60;#_unique_start_positions=,46;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0333;AF_ESP_clinvar_20171029_hg19=,0.0394;AF_EXAC_clinvar_20171029_hg19=,0.03427;AF_TGP_clinvar_20171029_hg19=,0.0336;ALLELEID_clinvar_20171029_hg19=,135850;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0245;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.25;CAF_dbsnp_common_v150_hg19_refseq=,0.9665|0.03355;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001251|MedGen:C0007758|SNOMED_CT:85102008|MedGen:C0410189|Orphanet:ORPHA261|SNOMED_CT:111508004|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.152652599G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:91085;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_033071.3:c.13008C>T|_NM_182961.3:c.13221C>T;Coding_region_change_in_longest_transcript=,NM_182961.3:c.13221C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0198;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0368;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,89;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,SYNE1:23345;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:23345;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:23345;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:17089;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:17089;Homo_sapiens_refseq_GRCh37.p13_Genes=,SYNE1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_033071.3|NM_182961.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene15078;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21645|rna21644;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608441;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608441;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene15078;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,152652599;RS_dbsnp_common_v150_hg19_refseq=,10499268;Read_count=,115;Read_coverage=,225;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.998590140236634;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_033071.3|NM_182961.3;Reverse_read_coverage=,136;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0511;SF=9;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.964386|0.0356137;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050168000305150537100100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.0306122;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0486726;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.0243902;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.0738636;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0232558;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0348837;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.0277778;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.0102041;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.0734266;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.0340909;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0265487;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.523;db_xref=,GeneID:23345|HGNC:HGNC:17089|MIM:608441;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_033071.3|Genbank:NM_182961.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,spectrin_repeat_containing_nuclear_envelope_protein_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SYNE1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SYNE1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,8B|ARCA1|C6orf98|CPG2|dJ45H2.2|EDMD4|MYNE1|Nesp1|SCAR8;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_2|spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_1;transcript_id=,NM_033071.3|NM_182961.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon77:c.C13008T:p.D4336D,SYNE1:NM_182961:exon78:c.C13221T:p.D4407D;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.0394;esp6500siv2_ea=0.0437;esp6500siv2_all=0.0394;esp6500siv2_ea=0.0437;1000g2015aug_all=0.0335463;avsnp147=rs10499268;Kaviar_AF=0.035006;Kaviar_AC=5412;Kaviar_AN=154602;ExAC_ALL=0.0343;ExAC_AFR=0.0289;ExAC_AMR=0.0128;ExAC_EAS=0.0227;ExAC_FIN=0.0186;ExAC_NFE=0.0388;ExAC_OTH=0.0332;ExAC_SAS=0.0468;CLNALLELEID=135850;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0056;dpsi_zscore=-0.008;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0332;gnomAD_exome_AFR=0.0295;gnomAD_exome_AMR=0.0153;gnomAD_exome_ASJ=0.0447;gnomAD_exome_EAS=0.0230;gnomAD_exome_FIN=0.0146;gnomAD_exome_NFE=0.0397;gnomAD_exome_OTH=0.0319;gnomAD_exome_SAS=0.0463;gnomAD_genome_ALL=0.0312;gnomAD_genome_AFR=0.0275;gnomAD_genome_AMR=0.0191;gnomAD_genome_ASJ=0.0530;gnomAD_genome_EAS=0.0240;gnomAD_genome_FIN=0.0137;gnomAD_genome_NFE=0.0385;gnomAD_genome_OTH=0.0295;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . 1:201:0,102 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6 152658062 130401;rs117501809 C G 200.00 . #_unique_end_positions=,29;#_unique_start_positions=,28;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0008;AF_ESP_clinvar_20171029_hg19=,0.0238;AF_EXAC_clinvar_20171029_hg19=,0.02717;AF_TGP_clinvar_20171029_hg19=,0.0124;ALLELEID_clinvar_20171029_hg19=,135848;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0130;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_149062.1:p.Asp4077His|_NP_892006.3:p.Asp4148His;Amino_acid_change_in_longest_transcript=,NP_892006.3:p.Asp4148His;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.9876|0.01238;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001251|MedGen:C0007758|SNOMED_CT:85102008|MedGen:C0410189|Orphanet:ORPHA261|SNOMED_CT:111508004|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.152658062C>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:65891;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_033071.3:c.12229G>C|_NM_182961.3:c.12442G>C;Coding_region_change_in_longest_transcript=,NM_182961.3:c.12442G>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0278;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,31;GENEINFO_dbsnp_common_v150_hg19_refseq=,SYNE1:23345;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:23345;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:23345;Genotype=,C/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:17089;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:17089;Homo_sapiens_refseq_GRCh37.p13_Genes=,SYNE1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_033071.3|NM_182961.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene15078;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21645|rna21644;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608441;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608441;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene15078;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,152658062;RS_dbsnp_common_v150_hg19_refseq=,117501809;Read_count=,39;Read_coverage=,83;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.8840449639996315;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_033071.3|NM_182961.3;Reverse_read_coverage=,52;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0245;SF=31;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.97833|0.0216704;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050160000a05140436100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:23345|HGNC:HGNC:17089|MIM:608441;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_033071.3|Genbank:NM_182961.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,spectrin_repeat_containing_nuclear_envelope_protein_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SYNE1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SYNE1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,8B|ARCA1|C6orf98|CPG2|dJ45H2.2|EDMD4|MYNE1|Nesp1|SCAR8;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_2|spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_1;transcript_id=,NM_033071.3|NM_182961.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon75:c.G12229C:p.D4077H,SYNE1:NM_182961:exon76:c.G12442C:p.D4148H;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.0238;esp6500siv2_ea=0.0326;esp6500siv2_all=0.0238;esp6500siv2_ea=0.0326;1000g2015aug_all=0.0123802;avsnp147=rs117501809;Kaviar_AF=0.0265068;Kaviar_AC=4098;Kaviar_AN=154602;ExAC_ALL=0.0272;ExAC_AFR=0.0062;ExAC_AMR=0.0103;ExAC_EAS=0.0002;ExAC_FIN=0.0315;ExAC_NFE=0.0358;ExAC_OTH=0.0275;ExAC_SAS=0.0296;CLNALLELEID=135848;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.002;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.994;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.075;MutationAssessor_pred=M;FATHMM_score=0.53;FATHMM_pred=T;PROVEAN_score=-2.74;PROVEAN_pred=D;VEST3_score=0.348;CADD_raw=6.665;CADD_phred=32;DANN_score=0.980;fathmm-MKL_coding_score=0.997;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.509;MetaSVM_pred=T;MetaLR_score=0.290;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.47;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.932;phastCons7way_vertebrate=0.991;phastCons20way_mammalian=0.989;SiPhy_29way_logOdds=19.325;GDI_full_10282015=.;dpsi_max_tissue=-1.0501;dpsi_zscore=-1.499;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0255;gnomAD_exome_AFR=0.0059;gnomAD_exome_AMR=0.0094;gnomAD_exome_ASJ=0.0088;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0.0314;gnomAD_exome_NFE=0.0357;gnomAD_exome_OTH=0.0244;gnomAD_exome_SAS=0.0313;gnomAD_genome_ALL=0.0211;gnomAD_genome_AFR=0.0050;gnomAD_genome_AMR=0.0095;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0260;gnomAD_genome_NFE=0.0318;gnomAD_genome_OTH=0.0326;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:74:0,33 . . . . . . . . . . 6 152658141 130399;130400;217493;rs28385621;rs9479297 CT AC 200.00 . #_unique_end_positions=,27;#_unique_start_positions=,26;AC=5;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0749|0.9569;AF_EXAC_clinvar_20171029_hg19=,0.07619;AF_TGP_clinvar_20171029_hg19=,0.0877;ALLELEID_clinvar_20171029_hg19=,214106|135847|135846;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0620|0.7147;AN=8;Amino_acid_change=,NP_149062.1:p.Lys4050Ser|_NP_892006.3:p.Lys4121Ser;Amino_acid_change_in_longest_transcript=,NP_892006.3:p.Lys4121Ser;BaseQRankSum=,0.48;CLNDISDB_clinvar_20171029_hg19=,MedGen:C0878544|Orphanet:ORPHA167848|SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001251|MedGen:C0007758|SNOMED_CT:85102008|MedGen:C0410189|Orphanet:ORPHA261|SNOMED_CT:111508004|MedGen:CN169374|Human_Phenotype_Ontology:HP:0001251|MedGen:C0007758|SNOMED_CT:85102008|MedGen:C0410189|Orphanet:ORPHA261|SNOMED_CT:111508004|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Cardiomyopathy|Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified|Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.152658141_152658142delinsAC|NC_000006.11:g.152658141C>A|NC_000006.11:g.152658142T>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_single_submitter|criteria_provided|_multiple_submitters|_no_conflicts|criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:1000032|SO:0001483|SO:0001483;CLNVC_clinvar_20171029_hg19=,Indel|single_nucleotide_variant|single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:57879|Illumina_Clinical_Services_Laboratory|Illumina:41348;Coding_region_change=,NM_033071.3:c.12149_12150delinsGT|_NM_182961.3:c.12362_12363delinsGT;Coding_region_change_in_longest_transcript=,NM_182961.3:c.12362_12363delinsGT;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1171|0.8631;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0696|0.7416;Exact_match=,clinvar_20171029_hg19|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,18;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:23345;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:23345;Genotype=,complex;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:17089;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:17089;Homo_sapiens_refseq_GRCh37.p13_Genes=,SYNE1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_033071.3|NM_182961.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene15078;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21645|rna21644;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant|SO:0001583|missense_variant|SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608441;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608441;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1|1|1;Other_variants_within_codon=,Yes;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene15078;QUAL=,200.0;Read_count=,39;Read_coverage=,83;Read_direction_test_probability=,0.9797425173045614;Read_position_test_probability=,0.9622648877872044;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_033071.3|NM_182961.3;Reverse_read_coverage=,65;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1115|0.6084;SF=2,5,7,9,11;conservation_score=,0.8845000000000001;db_xref=,GeneID:23345|HGNC:HGNC:17089|MIM:608441;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_033071.3|Genbank:NM_182961.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,spectrin_repeat_containing_nuclear_envelope_protein_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SYNE1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SYNE1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,8B|ARCA1|C6orf98|CPG2|dJ45H2.2|EDMD4|MYNE1|Nesp1|SCAR8;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_2|spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_1;transcript_id=,NM_033071.3|NM_182961.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonframeshift_substitution;AAChange.refGene=SYNE1:NM_033071:exon75:c.12149_12150GT,SYNE1:NM_182961:exon76:c.12362_12363GT;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs386707192;Kaviar_AF=0.0029754;Kaviar_AC=460;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=214106;CLNDN=Cardiomyopathy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=12 GT:DP:CLCAD2 . . 0/1:77:0,37 . . 0/1:67:0,30 . 0/1:84:0,52 . 1:69:0,36 . 1:91:0,38 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6 152658142 130399;rs9479297 T C 194.66 . #_unique_end_positions=,23;#_unique_start_positions=,21;AC=56;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9569;ALLELEID_clinvar_20171029_hg19=,135846;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7147;AN=59;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_892006.3:p.Lys4121Arg|_NP_149062.1:p.Lys4050Arg;Amino_acid_change_in_longest_transcript=,NP_892006.3:p.Lys4121Arg;BaseQRankSum=,0.13;CAF_dbsnp_common_v150_hg19_refseq=,0.2069|0.7931;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001251|MedGen:C0007758|SNOMED_CT:85102008|MedGen:C0410189|Orphanet:ORPHA261|SNOMED_CT:111508004|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.152658142T>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:41348;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_033071.3:c.12149A>G|_NM_182961.3:c.12362A>G;Coding_region_change_in_longest_transcript=,NM_182961.3:c.12362A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.8631;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7416;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,31;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,SYNE1:23345;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:23345;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:23345;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:17089;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:17089;Homo_sapiens_refseq_GRCh37.p13_Genes=,SYNE1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_033071.3|NM_182961.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene15078;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21645|rna21644;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608441;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608441;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene15078;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,152658142;RS_dbsnp_common_v150_hg19_refseq=,9479297;Read_count=,33;Read_coverage=,75;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.2191338160491496;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_033071.3|NM_182961.3;Reverse_read_coverage=,44;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6084;SF=0,1,2,3,4,5,6,7,8,10,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.179614|0.820386;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050168000a0515053f100101;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.913043;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.75;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.890244;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.858025;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.625;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.833333;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.855556;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.955056;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.830935;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.72093;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.966667;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.912;db_xref=,GeneID:23345|HGNC:HGNC:17089|MIM:608441;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_033071.3|Genbank:NM_182961.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,spectrin_repeat_containing_nuclear_envelope_protein_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SYNE1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SYNE1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,8B|ARCA1|C6orf98|CPG2|dJ45H2.2|EDMD4|MYNE1|Nesp1|SCAR8;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_2|spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_1;transcript_id=,NM_033071.3|NM_182961.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon75:c.A12149G:p.K4050R,SYNE1:NM_182961:exon76:c.A12362G:p.K4121R;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.7882;esp6500siv2_ea=0.7194;esp6500siv2_all=0.7882;esp6500siv2_ea=0.7194;1000g2015aug_all=0.793131;avsnp147=rs9479297;Kaviar_AF=0.0054268;Kaviar_AC=839;Kaviar_AN=154602;ExAC_ALL=0.7547;ExAC_AFR=0.9281;ExAC_AMR=0.7058;ExAC_EAS=0.8544;ExAC_FIN=0.8368;ExAC_NFE=0.7478;ExAC_OTH=0.7673;ExAC_SAS=0.6211;CLNALLELEID=135846;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.011;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.97;MutationAssessor_pred=N;FATHMM_score=1.37;FATHMM_pred=T;PROVEAN_score=1.08;PROVEAN_pred=N;VEST3_score=0.03;CADD_raw=0.371;CADD_phred=6.360;DANN_score=0.804;fathmm-MKL_coding_score=0.179;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.969;MetaSVM_pred=T;MetaLR_score=0.009;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=4.48;phyloP7way_vertebrate=-0.422;phyloP20way_mammalian=0.067;phastCons7way_vertebrate=0.385;phastCons20way_mammalian=0.964;SiPhy_29way_logOdds=9.174;GDI_full_10282015=.;dpsi_max_tissue=-1.9656;dpsi_zscore=-1.890;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.7493;gnomAD_exome_AFR=0.9330;gnomAD_exome_AMR=0.6978;gnomAD_exome_ASJ=0.6986;gnomAD_exome_EAS=0.8558;gnomAD_exome_FIN=0.8360;gnomAD_exome_NFE=0.7459;gnomAD_exome_OTH=0.7448;gnomAD_exome_SAS=0.6213;gnomAD_genome_ALL=0.8208;gnomAD_genome_AFR=0.9307;gnomAD_genome_AMR=0.7081;gnomAD_genome_ASJ=0.6788;gnomAD_genome_EAS=0.8488;gnomAD_genome_FIN=0.8345;gnomAD_genome_NFE=0.7642;gnomAD_genome_OTH=0.7515;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:59:0,27 1/1:76:0,76 0/1:76:0,39 1:74:0,40 1/1:51:0,51 0/1:66:0,36 1:61:0,29 0/1:84:0,32 1:85:0,47 . 1/1:65:0,65 . 1/1:77:0,77 1/1:80:0,80 1:119:0,62 1:89:0,45 1:84:0,39 1:107:0,44 1/1:69:0,69 1/1:76:0,76 1/1:98:0,98 1/1:112:0,112 1:90:0,44 1:82:0,36 1:93:0,41 1/1:72:0,72 1/1:72:0,72 1/1:129:0,129 1:109:0,46 1/1:86:0,86 1:93:0,40 1:57:0,33 1:75:0,34 1/1:72:0,72 1/1:94:0,94 1:77:0,32 1:84:0,41 1:84:0,35 1:78:0,35 1/1:92:0,92 1/1:65:0,65 . 6 152660451 130398;rs71575926 G A 185.38 . #_unique_end_positions=,45;#_unique_start_positions=,37;AC=11;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0817;AF_ESP_clinvar_20171029_hg19=,0.1162;AF_EXAC_clinvar_20171029_hg19=,0.11420;AF_TGP_clinvar_20171029_hg19=,0.0733;ALLELEID_clinvar_20171029_hg19=,135845;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0720;AN=11;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.07;CAF_dbsnp_common_v150_hg19_refseq=,0.9267|0.07328;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001251|MedGen:C0007758|SNOMED_CT:85102008|MedGen:C0410189|Orphanet:ORPHA261|SNOMED_CT:111508004|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.152660451G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:41356;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_033071.3:c.12063C>T|_NM_182961.3:c.12276C>T;Coding_region_change_in_longest_transcript=,NM_182961.3:c.12276C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0258;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1471;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,20;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,SYNE1:23345;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:23345;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:23345;Genotype=,A/A;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:17089;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:17089;Homo_sapiens_refseq_GRCh37.p13_Genes=,SYNE1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_033071.3|NM_182961.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene15078;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21645|rna21644;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608441;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608441;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene15078;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,152660451;RS_dbsnp_common_v150_hg19_refseq=,71575926;Read_count=,67;Read_coverage=,67;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_033071.3|NM_182961.3;Reverse_read_coverage=,47;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0358;SF=10,21,23,26,27,28,34,38,39,40;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.885706|0.114294;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05016800030515053e100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.978;db_xref=,GeneID:23345|HGNC:HGNC:17089|MIM:608441;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_033071.3|Genbank:NM_182961.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,spectrin_repeat_containing_nuclear_envelope_protein_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SYNE1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SYNE1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,8B|ARCA1|C6orf98|CPG2|dJ45H2.2|EDMD4|MYNE1|Nesp1|SCAR8;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_2|spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_1;transcript_id=,NM_033071.3|NM_182961.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon74:c.C12063T:p.L4021L,SYNE1:NM_182961:exon75:c.C12276T:p.L4092L;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.1162;esp6500siv2_ea=0.1315;esp6500siv2_all=0.1162;esp6500siv2_ea=0.1315;1000g2015aug_all=0.0732827;avsnp147=rs71575926;Kaviar_AF=0.113368;Kaviar_AC=17527;Kaviar_AN=154602;ExAC_ALL=0.1142;ExAC_AFR=0.0882;ExAC_AMR=0.0547;ExAC_EAS=0.0291;ExAC_FIN=0.2602;ExAC_NFE=0.1418;ExAC_OTH=0.1344;ExAC_SAS=0.0457;CLNALLELEID=135845;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1019;dpsi_zscore=0.489;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1143;gnomAD_exome_AFR=0.0900;gnomAD_exome_AMR=0.0552;gnomAD_exome_ASJ=0.0457;gnomAD_exome_EAS=0.0305;gnomAD_exome_FIN=0.2579;gnomAD_exome_NFE=0.1438;gnomAD_exome_OTH=0.1298;gnomAD_exome_SAS=0.0464;gnomAD_genome_ALL=0.1339;gnomAD_genome_AFR=0.0889;gnomAD_genome_AMR=0.0597;gnomAD_genome_ASJ=0.0331;gnomAD_genome_EAS=0.0383;gnomAD_genome_FIN=0.2519;gnomAD_genome_NFE=0.1464;gnomAD_genome_OTH=0.1762;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . . 1/1:65:0,65 . . . . . . . . . . 1:84:0,34 . 1:70:0,29 . . 1:67:0,28 1:75:0,30 1:80:0,43 . . . . . 1:66:0,34 . . . 1:46:0,23 1:59:0,21 1:56:0,22 . 6 152665261 130397;rs4645434 C A 194.21 . #_unique_end_positions=,44;#_unique_start_positions=,37;AC=50;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4138;ALLELEID_clinvar_20171029_hg19=,135844;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6182;AN=50;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_892006.3:p.Glu4060Asp|_NP_149062.1:p.Glu3989Asp;Amino_acid_change_in_longest_transcript=,NP_892006.3:p.Glu4060Asp;BaseQRankSum=,0.43;CAF_dbsnp_common_v150_hg19_refseq=,0.4545|0.5455;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001251|MedGen:C0007758|SNOMED_CT:85102008|MedGen:C0410189|Orphanet:ORPHA261|SNOMED_CT:111508004|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.152665261C>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:41360;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_033071.3:c.11967G>T|_NM_182961.3:c.12180G>T;Coding_region_change_in_longest_transcript=,NM_182961.3:c.12180G>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6488;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6024;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,66;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,SYNE1:23345;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:23345;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:23345;Genotype=,A/C;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:17089;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:17089;Homo_sapiens_refseq_GRCh37.p13_Genes=,SYNE1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_033071.3|NM_182961.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene15078;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21645|rna21644;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608441;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608441;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene15078;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,152665261;RS_dbsnp_common_v150_hg19_refseq=,4645434;Read_count=,72;Read_coverage=,116;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.995652591728632;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_033071.3|NM_182961.3;Reverse_read_coverage=,50;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5072;SF=0,1,2,4,5,6,7,8,9,11,12,13,14,16,17,18,19,20,21,22,23,24,25,26,27,29,30,31,32,33,34,35,36,37,38,39,40;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.461776|0.538224;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050168000a0517053f100101;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.46875;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.632743;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.682927;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.635294;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.528409;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.627907;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.662791;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.373563;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.58;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.395105;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.614943;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.450893;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.016;db_xref=,GeneID:23345|HGNC:HGNC:17089|MIM:608441;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_033071.3|Genbank:NM_182961.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,spectrin_repeat_containing_nuclear_envelope_protein_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SYNE1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SYNE1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,8B|ARCA1|C6orf98|CPG2|dJ45H2.2|EDMD4|MYNE1|Nesp1|SCAR8;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_2|spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_1;transcript_id=,NM_033071.3|NM_182961.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon73:c.G11967T:p.E3989D,SYNE1:NM_182961:exon74:c.G12180T:p.E4060D;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.5673;esp6500siv2_ea=0.6178;esp6500siv2_all=0.5673;esp6500siv2_ea=0.6178;1000g2015aug_all=0.545527;avsnp147=rs4645434;Kaviar_AF=0.575245;Kaviar_AC=88934;Kaviar_AN=154602;ExAC_ALL=0.5761;ExAC_AFR=0.4471;ExAC_AMR=0.5970;ExAC_EAS=0.6419;ExAC_FIN=0.5452;ExAC_NFE=0.6031;ExAC_OTH=0.5771;ExAC_SAS=0.5118;CLNALLELEID=135844;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.104;SIFT_pred=T;Polyphen2_HDIV_score=0.203;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.054;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=0.345;MutationAssessor_pred=N;FATHMM_score=1.33;FATHMM_pred=T;PROVEAN_score=-1.02;PROVEAN_pred=N;VEST3_score=0.011;CADD_raw=0.235;CADD_phred=5.046;DANN_score=0.149;fathmm-MKL_coding_score=0.885;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.976;MetaSVM_pred=T;MetaLR_score=0.015;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=-1.25;phyloP7way_vertebrate=-0.011;phyloP20way_mammalian=-0.863;phastCons7way_vertebrate=0.980;phastCons20way_mammalian=0.019;SiPhy_29way_logOdds=10.963;GDI_full_10282015=.;dpsi_max_tissue=3.8654;dpsi_zscore=2.407;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.5829;gnomAD_exome_AFR=0.4410;gnomAD_exome_AMR=0.6001;gnomAD_exome_ASJ=0.6528;gnomAD_exome_EAS=0.6416;gnomAD_exome_FIN=0.5473;gnomAD_exome_NFE=0.6078;gnomAD_exome_OTH=0.5857;gnomAD_exome_SAS=0.5142;gnomAD_genome_ALL=0.5601;gnomAD_genome_AFR=0.4517;gnomAD_genome_AMR=0.6160;gnomAD_genome_ASJ=0.66;gnomAD_genome_EAS=0.6582;gnomAD_genome_FIN=0.5561;gnomAD_genome_NFE=0.6094;gnomAD_genome_OTH=0.5418;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:97:0,58 1/1:154:0,154 1/1:132:0,132 . 1/1:111:0,111 1/1:158:0,158 1:93:0,46 1/1:132:0,132 1:137:0,77 1:99:0,52 . 1:140:0,63 1:167:0,80 1/1:147:0,147 1:206:0,85 . 1:166:0,68 1:148:0,55 1/1:129:0,129 1/1:110:0,110 1/1:149:0,149 1:142:0,50 1:198:0,89 1:161:0,74 1:154:0,68 1:130:0,72 1:114:0,49 1:177:0,89 . 1/1:161:0,161 1:169:0,90 1:95:0,44 1/1:139:0,139 1/1:95:0,95 1:161:0,78 1/1:109:0,109 1:130:0,51 1:104:0,42 1:88:0,40 1:163:0,76 1:156:0,81 . 6 152668211 262155;rs111449472 A G 151.76 . #_unique_end_positions=,25;#_unique_start_positions=,19;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0030;AF_ESP_clinvar_20171029_hg19=,0.0112;AF_EXAC_clinvar_20171029_hg19=,0.01130;AF_TGP_clinvar_20171029_hg19=,0.0054;ALLELEID_clinvar_20171029_hg19=,252187;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0086;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_149062.1:p.Cys3950Arg|_NP_892006.3:p.Cys4021Arg;Amino_acid_change_in_longest_transcript=,NP_892006.3:p.Cys4021Arg;BaseQRankSum=,0.15;CAF_dbsnp_common_v150_hg19_refseq=,0.9946|0.005391;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001251|MedGen:C0007758|SNOMED_CT:85102008|MedGen:C0410189|Orphanet:ORPHA261|SNOMED_CT:111508004|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.152668211A>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:129369;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_033071.3:c.11848T>C|_NM_182961.3:c.12061T>C;Coding_region_change_in_longest_transcript=,NM_182961.3:c.12061T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0119;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,48;GENEINFO_dbsnp_common_v150_hg19_refseq=,SYNE1:23345;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:23345;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:23345;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:17089;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:17089;Homo_sapiens_refseq_GRCh37.p13_Genes=,SYNE1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_033071.3|NM_182961.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene15078;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21645|rna21644;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608441;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608441;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene15078;QUAL=,151.7643851980736;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,152668211;RS_dbsnp_common_v150_hg19_refseq=,111449472;Read_count=,30;Read_coverage=,81;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.7830983490034302;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_033071.3|NM_182961.3;Reverse_read_coverage=,33;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0051;SF=26;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.99375|0.00625043;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128000a05040536000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:23345|HGNC:HGNC:17089|MIM:608441;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_033071.3|Genbank:NM_182961.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,spectrin_repeat_containing_nuclear_envelope_protein_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SYNE1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SYNE1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,8B|ARCA1|C6orf98|CPG2|dJ45H2.2|EDMD4|MYNE1|Nesp1|SCAR8;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_2|spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_1;transcript_id=,NM_033071.3|NM_182961.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon72:c.T11848C:p.C3950R,SYNE1:NM_182961:exon73:c.T12061C:p.C4021R;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.0112;esp6500siv2_ea=0.0151;esp6500siv2_all=0.0112;esp6500siv2_ea=0.0151;1000g2015aug_all=0.00539137;avsnp147=rs111449472;Kaviar_AF=0.0110801;Kaviar_AC=1713;Kaviar_AN=154602;ExAC_ALL=0.0113;ExAC_AFR=0.0022;ExAC_AMR=0.0040;ExAC_EAS=0;ExAC_FIN=0.0129;ExAC_NFE=0.0170;ExAC_OTH=0.0088;ExAC_SAS=0.0044;CLNALLELEID=252187;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.045;MutationAssessor_pred=M;FATHMM_score=1.43;FATHMM_pred=T;PROVEAN_score=-4.93;PROVEAN_pred=D;VEST3_score=0.407;CADD_raw=6.385;CADD_phred=29.5;DANN_score=0.958;fathmm-MKL_coding_score=0.990;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.916;MetaSVM_pred=T;MetaLR_score=0.139;MetaLR_pred=T;integrated_fitCons_score=0.563;integrated_confidence_value=0;GERP++_RS=5.71;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.199;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=0.997;SiPhy_29way_logOdds=15.987;GDI_full_10282015=.;dpsi_max_tissue=-0.1160;dpsi_zscore=-0.496;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0102;gnomAD_exome_AFR=0.0023;gnomAD_exome_AMR=0.0038;gnomAD_exome_ASJ=0.0098;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0118;gnomAD_exome_NFE=0.0161;gnomAD_exome_OTH=0.0108;gnomAD_exome_SAS=0.0044;gnomAD_genome_ALL=0.0104;gnomAD_genome_AFR=0.0031;gnomAD_genome_AMR=0.0048;gnomAD_genome_ASJ=0.0132;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0149;gnomAD_genome_NFE=0.0147;gnomAD_genome_OTH=0.0132;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . 1:74:0,27 . . . . . . . . . . . . . . . 6 152668215 130395;rs144596829 C T 200.00 . #_unique_end_positions=,33;#_unique_start_positions=,21;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0015;AF_ESP_clinvar_20171029_hg19=,0.0092;AF_EXAC_clinvar_20171029_hg19=,0.00921;AF_TGP_clinvar_20171029_hg19=,0.0048;ALLELEID_clinvar_20171029_hg19=,135842;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0072;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.9952|0.004792;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001251|MedGen:C0007758|SNOMED_CT:85102008|MedGen:C0410189|Orphanet:ORPHA261|SNOMED_CT:111508004|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.152668215C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:57911;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_033071.3:c.11844G>A|_NM_182961.3:c.12057G>A;Coding_region_change_in_longest_transcript=,NM_182961.3:c.12057G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0139;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,50;GENEINFO_dbsnp_common_v150_hg19_refseq=,SYNE1:23345;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:23345;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:23345;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:17089;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:17089;Homo_sapiens_refseq_GRCh37.p13_Genes=,SYNE1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_033071.3|NM_182961.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene15078;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21645|rna21644;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608441;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608441;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene15078;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,152668215;RS_dbsnp_common_v150_hg19_refseq=,144596829;Read_count=,45;Read_coverage=,84;Read_direction_test_probability=,0.9136362393035646;Read_position_test_probability=,0.7955335371594237;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_033071.3|NM_182961.3;Reverse_read_coverage=,34;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0031;SF=5;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.993853|0.0061474;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050168000305040436100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.014;db_xref=,GeneID:23345|HGNC:HGNC:17089|MIM:608441;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_033071.3|Genbank:NM_182961.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,spectrin_repeat_containing_nuclear_envelope_protein_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SYNE1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SYNE1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,8B|ARCA1|C6orf98|CPG2|dJ45H2.2|EDMD4|MYNE1|Nesp1|SCAR8;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_2|spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_1;transcript_id=,NM_033071.3|NM_182961.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon72:c.G11844A:p.A3948A,SYNE1:NM_182961:exon73:c.G12057A:p.A4019A;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.0091;esp6500siv2_ea=0.0130;esp6500siv2_all=0.0091;esp6500siv2_ea=0.0130;1000g2015aug_all=0.00479233;avsnp147=rs144596829;Kaviar_AF=0.0094565;Kaviar_AC=1462;Kaviar_AN=154602;ExAC_ALL=0.0092;ExAC_AFR=0.0022;ExAC_AMR=0.0066;ExAC_EAS=0;ExAC_FIN=0.0104;ExAC_NFE=0.0133;ExAC_OTH=0.0099;ExAC_SAS=0.0031;CLNALLELEID=135842;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0252;dpsi_zscore=-0.137;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0089;gnomAD_exome_AFR=0.0022;gnomAD_exome_AMR=0.0064;gnomAD_exome_ASJ=0.0064;gnomAD_exome_EAS=5.798e-05;gnomAD_exome_FIN=0.0102;gnomAD_exome_NFE=0.0133;gnomAD_exome_OTH=0.0097;gnomAD_exome_SAS=0.0031;gnomAD_genome_ALL=0.0074;gnomAD_genome_AFR=0.0014;gnomAD_genome_AMR=0.0048;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0103;gnomAD_genome_NFE=0.0113;gnomAD_genome_OTH=0.0061;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . 1:71:0,41 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6 152668272 198654;rs148493518 C T 200.00 . #_unique_end_positions=,28;#_unique_start_positions=,26;AC=4;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0056;AF_EXAC_clinvar_20171029_hg19=,0.00559;AF_TGP_clinvar_20171029_hg19=,0.0024;ALLELEID_clinvar_20171029_hg19=,195815;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0072;AN=4;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.17;CAF_dbsnp_common_v150_hg19_refseq=,0.9976|.|0.002396;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001251|MedGen:C0007758|SNOMED_CT:85102008|MedGen:C0410189|Orphanet:ORPHA261|SNOMED_CT:111508004|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.152668272C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:141552;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_033071.3:c.11787G>A|_NM_182961.3:c.12000G>A;Coding_region_change_in_longest_transcript=,NM_182961.3:c.12000G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0070;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,47;GENEINFO_dbsnp_common_v150_hg19_refseq=,SYNE1:23345;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:23345;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:23345;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:17089;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:17089;Homo_sapiens_refseq_GRCh37.p13_Genes=,SYNE1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_033071.3|NM_182961.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene15078;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21645|rna21644;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608441;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608441;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene15078;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,152668272;RS_dbsnp_common_v150_hg19_refseq=,148493518;Read_count=,50;Read_coverage=,86;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9992833444435001;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_033071.3|NM_182961.3;Reverse_read_coverage=,39;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=23,27,28,38;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.995467|.|0.00453328;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050028000305040436000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.0;db_xref=,GeneID:23345|HGNC:HGNC:17089|MIM:608441;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_033071.3|Genbank:NM_182961.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,spectrin_repeat_containing_nuclear_envelope_protein_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SYNE1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SYNE1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,8B|ARCA1|C6orf98|CPG2|dJ45H2.2|EDMD4|MYNE1|Nesp1|SCAR8;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_2|spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_1;transcript_id=,NM_033071.3|NM_182961.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon72:c.G11787A:p.A3929A,SYNE1:NM_182961:exon73:c.G12000A:p.A4000A;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.0056;esp6500siv2_ea=0.0080;esp6500siv2_all=0.0056;esp6500siv2_ea=0.0080;1000g2015aug_all=0.00239617;avsnp147=rs148493518;Kaviar_AF=0.0053233;Kaviar_AC=823;Kaviar_AN=154602;ExAC_ALL=0.0056;ExAC_AFR=0.0010;ExAC_AMR=0.0025;ExAC_EAS=0.0001;ExAC_FIN=0.0153;ExAC_NFE=0.0076;ExAC_OTH=0.0132;ExAC_SAS=0.0010;CLNALLELEID=195815;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0200;dpsi_zscore=0.135;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0058;gnomAD_exome_AFR=0.0014;gnomAD_exome_AMR=0.0025;gnomAD_exome_ASJ=0.0025;gnomAD_exome_EAS=5.798e-05;gnomAD_exome_FIN=0.0156;gnomAD_exome_NFE=0.0077;gnomAD_exome_OTH=0.0071;gnomAD_exome_SAS=0.0012;gnomAD_genome_ALL=0.0063;gnomAD_genome_AFR=0.0005;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0169;gnomAD_genome_NFE=0.0079;gnomAD_genome_OTH=0.0132;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . 1:75:0,44 . . . 1:74:0,45 1:116:0,62 . . . . . . . . . 1:58:0,32 . . . 6 152671865 130394;rs13210127 T G 200.00 . #_unique_end_positions=,20;#_unique_start_positions=,19;AC=2;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0159;AF_ESP_clinvar_20171029_hg19=,0.0158;AF_EXAC_clinvar_20171029_hg19=,0.03638;AF_TGP_clinvar_20171029_hg19=,0.0543;ALLELEID_clinvar_20171029_hg19=,135841;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0216;AN=2;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_149062.1:p.Lys3859Thr|_NP_892006.3:p.Lys3874Thr;Amino_acid_change_in_longest_transcript=,NP_892006.3:p.Lys3874Thr;BaseQRankSum=,0.2;CAF_dbsnp_common_v150_hg19_refseq=,0.9457|0.05431;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001251|MedGen:C0007758|SNOMED_CT:85102008|MedGen:C0410189|Orphanet:ORPHA261|SNOMED_CT:111508004|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.152671865T>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:57925;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_033071.3:c.11576A>C|_NM_182961.3:c.11621A>C;Coding_region_change_in_longest_transcript=,NM_182961.3:c.11621A>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1359;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0139;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,39;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,SYNE1:23345;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:23345;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:23345;Genotype=,G/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:17089;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:17089;Homo_sapiens_refseq_GRCh37.p13_Genes=,SYNE1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_033071.3|NM_182961.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene15078;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21645|rna21644;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608441;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608441;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene15078;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,152671865;RS_dbsnp_common_v150_hg19_refseq=,13210127;Read_count=,29;Read_coverage=,63;Read_direction_test_probability=,0.9984639532196445;Read_position_test_probability=,0.9796490170291801;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_033071.3|NM_182961.3;Reverse_read_coverage=,24;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0869;SF=2,5;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.982725|0.0172745;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050168000a05150537100100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.0306122;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0166667;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.146341;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.135294;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.0795455;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.122222;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.222222;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.0111111;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.02;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.013986;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.0170455;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.00442478;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.377;db_xref=,GeneID:23345|HGNC:HGNC:17089|MIM:608441;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_033071.3|Genbank:NM_182961.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,spectrin_repeat_containing_nuclear_envelope_protein_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SYNE1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SYNE1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,8B|ARCA1|C6orf98|CPG2|dJ45H2.2|EDMD4|MYNE1|Nesp1|SCAR8;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_2|spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_1;transcript_id=,NM_033071.3|NM_182961.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon71:c.A11576C:p.K3859T,SYNE1:NM_182961:exon71:c.A11621C:p.K3874T;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.0158;esp6500siv2_ea=0.0201;esp6500siv2_all=0.0158;esp6500siv2_ea=0.0201;1000g2015aug_all=0.0543131;avsnp147=rs13210127;Kaviar_AF=0.0347667;Kaviar_AC=5375;Kaviar_AN=154602;ExAC_ALL=0.0364;ExAC_AFR=0.0102;ExAC_AMR=0.0383;ExAC_EAS=0.1312;ExAC_FIN=0.0234;ExAC_NFE=0.0189;ExAC_OTH=0.0352;ExAC_SAS=0.0778;CLNALLELEID=135841;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.655;SIFT_pred=T;Polyphen2_HDIV_score=0.05;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.052;Polyphen2_HVAR_pred=B;LRT_score=0.110;LRT_pred=N;MutationTaster_score=0.020;MutationTaster_pred=P;MutationAssessor_score=0.9;MutationAssessor_pred=L;FATHMM_score=1.3;FATHMM_pred=T;PROVEAN_score=-1.27;PROVEAN_pred=N;VEST3_score=0.245;CADD_raw=2.231;CADD_phred=17.71;DANN_score=0.949;fathmm-MKL_coding_score=0.889;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.053;MetaSVM_pred=T;MetaLR_score=0.025;MetaLR_pred=T;integrated_fitCons_score=0.476;integrated_confidence_value=0;GERP++_RS=2.3;phyloP7way_vertebrate=0.039;phyloP20way_mammalian=0.088;phastCons7way_vertebrate=0.751;phastCons20way_mammalian=0.723;SiPhy_29way_logOdds=7.263;GDI_full_10282015=.;dpsi_max_tissue=0.5750;dpsi_zscore=1.206;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0365;gnomAD_exome_AFR=0.0095;gnomAD_exome_AMR=0.0409;gnomAD_exome_ASJ=0.0140;gnomAD_exome_EAS=0.1286;gnomAD_exome_FIN=0.0224;gnomAD_exome_NFE=0.0191;gnomAD_exome_OTH=0.0305;gnomAD_exome_SAS=0.0753;gnomAD_genome_ALL=0.0226;gnomAD_genome_AFR=0.0093;gnomAD_genome_AMR=0.0395;gnomAD_genome_ASJ=0.0166;gnomAD_genome_EAS=0.1235;gnomAD_genome_FIN=0.0241;gnomAD_genome_NFE=0.0181;gnomAD_genome_OTH=0.0255;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . 1:53:0,25 . . 1:52:0,26 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6 152675854 130393;rs9397102 A G 195.21 . #_unique_end_positions=,55;#_unique_start_positions=,38;AC=48;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5136;ALLELEID_clinvar_20171029_hg19=,135840;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6196;AN=48;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.3;CAF_dbsnp_common_v150_hg19_refseq=,0.4317|0.5683;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001251|MedGen:C0007758|SNOMED_CT:85102008|MedGen:C0410189|Orphanet:ORPHA261|SNOMED_CT:111508004|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.152675854A>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:41379;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_033071.3:c.10881+6T>C|_NM_182961.3:c.10866T>C;Coding_region_change_in_longest_transcript=,NM_182961.3:c.10866T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6171;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6014;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,100;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,SYNE1:23345;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:23345;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:23345;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:17089;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:17089;Homo_sapiens_refseq_GRCh37.p13_Genes=,SYNE1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_182961.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene15078;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21644;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001627|intron_variant|SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608441;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608441;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene15078;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,152675854;RS_dbsnp_common_v150_hg19_refseq=,9397102;Read_count=,73;Read_coverage=,151;Read_direction_test_probability=,0.9981191149999923;Read_position_test_probability=,0.9578334359176734;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_182961.3;Reverse_read_coverage=,51;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5215;SF=0,1,2,4,5,7,8,9,11,12,13,14,16,17,18,19,20,21,22,23,24,25,26,27,29,30,31,32,33,34,35,36,37,38,39,40;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.429288|0.570712;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05016808030517053f100100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.561224;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.661017;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.634146;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.664706;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.568182;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.6;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.577778;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.550562;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.571429;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.443662;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.613636;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.491667;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.0;db_xref=,GeneID:23345|HGNC:HGNC:17089|MIM:608441;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_182961.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,spectrin_repeat_containing_nuclear_envelope_protein_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SYNE1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SYNE1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,8B|ARCA1|C6orf98|CPG2|dJ45H2.2|EDMD4|MYNE1|Nesp1|SCAR8;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_1;transcript_id=,NM_182961.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_182961:exon67:c.T10866C:p.S3622S;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.5812;esp6500siv2_ea=0.6133;esp6500siv2_all=0.5812;esp6500siv2_ea=0.6133;1000g2015aug_all=0.568291;avsnp147=rs9397102;Kaviar_AF=0.579003;Kaviar_AC=89515;Kaviar_AN=154602;ExAC_ALL=0.5799;ExAC_AFR=0.5140;ExAC_AMR=0.6004;ExAC_EAS=0.6100;ExAC_FIN=0.5452;ExAC_NFE=0.6001;ExAC_OTH=0.5804;ExAC_SAS=0.5237;CLNALLELEID=135840;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-5.0361;dpsi_zscore=-2.504;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.5855;gnomAD_exome_AFR=0.5125;gnomAD_exome_AMR=0.6022;gnomAD_exome_ASJ=0.6465;gnomAD_exome_EAS=0.6110;gnomAD_exome_FIN=0.5476;gnomAD_exome_NFE=0.6049;gnomAD_exome_OTH=0.5879;gnomAD_exome_SAS=0.5260;gnomAD_genome_ALL=0.5777;gnomAD_genome_AFR=0.5229;gnomAD_genome_AMR=0.6169;gnomAD_genome_ASJ=0.6567;gnomAD_genome_EAS=0.6256;gnomAD_genome_FIN=0.5568;gnomAD_genome_NFE=0.6074;gnomAD_genome_OTH=0.5460;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:136:0,67 1/1:142:0,142 1/1:110:0,109 . 1/1:98:0,97 1/1:106:0,106 . 1/1:108:0,108 1:138:0,58 1:101:0,43 . 1:111:0,62 1:122:0,67 1:130:0,65 1:173:0,91 . 1:118:0,49 1:119:0,59 1/1:102:0,102 1/1:106:0,105 1/1:161:0,161 1:151:0,80 1:149:0,76 1:142:0,72 1:146:0,77 1:118:0,57 1:118:0,54 1:125:0,59 . 1/1:127:0,127 1:120:0,50 1:110:0,61 1/1:115:0,115 1/1:88:0,88 1:148:0,61 1/1:105:0,105 1:120:0,55 1:114:0,47 1:79:0,42 1:158:0,77 1:107:0,47 . 6 152675854 130393;rs9397102 A G 195.21 . #_unique_end_positions=,55;#_unique_start_positions=,38;AC=48;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5136;ALLELEID_clinvar_20171029_hg19=,135840;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6196;AN=48;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.3;CAF_dbsnp_common_v150_hg19_refseq=,0.4317|0.5683;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001251|MedGen:C0007758|SNOMED_CT:85102008|MedGen:C0410189|Orphanet:ORPHA261|SNOMED_CT:111508004|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.152675854A>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:41379;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_033071.3:c.10881+6T>C|_NM_182961.3:c.10866T>C;Coding_region_change_in_longest_transcript=,NM_182961.3:c.10866T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6171;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6014;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,100;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,SYNE1:23345;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:23345;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:23345;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:17089;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:17089;Homo_sapiens_refseq_GRCh37.p13_Genes=,SYNE1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_182961.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene15078;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21644;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001627|intron_variant|SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608441;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608441;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene15078;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,152675854;RS_dbsnp_common_v150_hg19_refseq=,9397102;Read_count=,73;Read_coverage=,151;Read_direction_test_probability=,0.9981191149999923;Read_position_test_probability=,0.9578334359176734;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_182961.3;Reverse_read_coverage=,51;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5215;SF=0,1,2,4,5,7,8,9,11,12,13,14,16,17,18,19,20,21,22,23,24,25,26,27,29,30,31,32,33,34,35,36,37,38,39,40;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.429288|0.570712;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05016808030517053f100100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.561224;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.661017;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.634146;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.664706;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.568182;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.6;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.577778;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.550562;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.571429;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.443662;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.613636;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.491667;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.0;db_xref=,GeneID:23345|HGNC:HGNC:17089|MIM:608441;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_182961.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,spectrin_repeat_containing_nuclear_envelope_protein_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SYNE1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SYNE1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,8B|ARCA1|C6orf98|CPG2|dJ45H2.2|EDMD4|MYNE1|Nesp1|SCAR8;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_1;transcript_id=,NM_182961.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_182961:exon67:c.T10866C:p.S3622S;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.5812;esp6500siv2_ea=0.6133;esp6500siv2_all=0.5812;esp6500siv2_ea=0.6133;1000g2015aug_all=0.568291;avsnp147=rs9397102;Kaviar_AF=0.579003;Kaviar_AC=89515;Kaviar_AN=154602;ExAC_ALL=0.5799;ExAC_AFR=0.5140;ExAC_AMR=0.6004;ExAC_EAS=0.6100;ExAC_FIN=0.5452;ExAC_NFE=0.6001;ExAC_OTH=0.5804;ExAC_SAS=0.5237;CLNALLELEID=135840;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-5.0361;dpsi_zscore=-2.504;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.5855;gnomAD_exome_AFR=0.5125;gnomAD_exome_AMR=0.6022;gnomAD_exome_ASJ=0.6465;gnomAD_exome_EAS=0.6110;gnomAD_exome_FIN=0.5476;gnomAD_exome_NFE=0.6049;gnomAD_exome_OTH=0.5879;gnomAD_exome_SAS=0.5260;gnomAD_genome_ALL=0.5777;gnomAD_genome_AFR=0.5229;gnomAD_genome_AMR=0.6169;gnomAD_genome_ASJ=0.6567;gnomAD_genome_EAS=0.6256;gnomAD_genome_FIN=0.5568;gnomAD_genome_NFE=0.6074;gnomAD_genome_OTH=0.5460;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:136:0,67 1/1:142:0,142 1/1:110:0,109 . 1/1:98:0,97 1/1:106:0,106 . 1/1:108:0,108 1:138:0,58 1:101:0,43 . 1:111:0,62 1:122:0,67 1:130:0,65 1:173:0,91 . 1:118:0,49 1:119:0,59 1/1:102:0,102 1/1:106:0,105 1/1:161:0,161 1:151:0,80 1:149:0,76 1:142:0,72 1:146:0,77 1:118:0,57 1:118:0,54 1:125:0,59 . 1/1:127:0,127 1:120:0,50 1:110:0,61 1/1:115:0,115 1/1:88:0,88 1:148:0,61 1/1:105:0,105 1:120:0,55 1:114:0,47 1:79:0,42 1:158:0,77 1:107:0,47 . 6 152679518 130391;rs145911138 C T 200.00 . #_unique_end_positions=,32;#_unique_start_positions=,24;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0151;AF_EXAC_clinvar_20171029_hg19=,0.01183;AF_TGP_clinvar_20171029_hg19=,0.0072;ALLELEID_clinvar_20171029_hg19=,135838;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0086;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_149062.1:p.Arg3540His|_NP_892006.3:p.Arg3533His;Amino_acid_change_in_longest_transcript=,NP_892006.3:p.Arg3533His;BaseQRankSum=,-0.22;CAF_dbsnp_common_v150_hg19_refseq=,0.9928|0.007188;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001251|MedGen:C0007758|SNOMED_CT:85102008|MedGen:C0410189|Orphanet:ORPHA261|SNOMED_CT:111508004|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.152679518C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:41418;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_033071.3:c.10619G>A|_NM_182961.3:c.10598G>A;Coding_region_change_in_longest_transcript=,NM_182961.3:c.10598G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0159;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,44;GENEINFO_dbsnp_common_v150_hg19_refseq=,SYNE1:23345;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:23345;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:23345;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:17089;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:17089;Homo_sapiens_refseq_GRCh37.p13_Genes=,SYNE1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_033071.3|NM_182961.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene15078;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21645|rna21644;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608441;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608441;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene15078;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,152679518;RS_dbsnp_common_v150_hg19_refseq=,145911138;Read_count=,41;Read_coverage=,97;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9992868734637573;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_033071.3|NM_182961.3;Reverse_read_coverage=,53;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0133;SF=14;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.985095|0.0149049;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050060000a05040436100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.969;db_xref=,GeneID:23345|HGNC:HGNC:17089|MIM:608441;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_033071.3|Genbank:NM_182961.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,spectrin_repeat_containing_nuclear_envelope_protein_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SYNE1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SYNE1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,8B|ARCA1|C6orf98|CPG2|dJ45H2.2|EDMD4|MYNE1|Nesp1|SCAR8;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_2|spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_1;transcript_id=,NM_033071.3|NM_182961.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon66:c.G10619A:p.R3540H,SYNE1:NM_182961:exon66:c.G10598A:p.R3533H;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.0151;esp6500siv2_ea=0.02;esp6500siv2_all=0.0151;esp6500siv2_ea=0.02;1000g2015aug_all=0.0071885;avsnp147=rs145911138;Kaviar_AF=0.0122702;Kaviar_AC=1897;Kaviar_AN=154602;ExAC_ALL=0.0118;ExAC_AFR=0.0037;ExAC_AMR=0.0034;ExAC_EAS=0;ExAC_FIN=0.0132;ExAC_NFE=0.0156;ExAC_OTH=0.0066;ExAC_SAS=0.0136;CLNALLELEID=135838;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.163;SIFT_pred=T;Polyphen2_HDIV_score=0.042;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.014;Polyphen2_HVAR_pred=B;LRT_score=0.037;LRT_pred=N;MutationTaster_score=0.972;MutationTaster_pred=D;MutationAssessor_score=1.085;MutationAssessor_pred=L;FATHMM_score=1.26;FATHMM_pred=T;PROVEAN_score=-1.05;PROVEAN_pred=N;VEST3_score=0.06;CADD_raw=3.946;CADD_phred=23.6;DANN_score=0.933;fathmm-MKL_coding_score=0.764;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.034;MetaSVM_pred=T;MetaLR_score=0.065;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=3.23;phyloP7way_vertebrate=0.033;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.984;phastCons20way_mammalian=0.865;SiPhy_29way_logOdds=12.872;GDI_full_10282015=.;dpsi_max_tissue=-0.0892;dpsi_zscore=-0.416;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0125;gnomAD_exome_AFR=0.0034;gnomAD_exome_AMR=0.0045;gnomAD_exome_ASJ=0.0267;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0123;gnomAD_exome_NFE=0.0165;gnomAD_exome_OTH=0.0113;gnomAD_exome_SAS=0.0140;gnomAD_genome_ALL=0.0102;gnomAD_genome_AFR=0.0045;gnomAD_genome_AMR=0.0107;gnomAD_genome_ASJ=0.0367;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0132;gnomAD_genome_NFE=0.0131;gnomAD_genome_OTH=0.0143;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . . . . . . 1:89:0,37 . . . . . . . . . . . . . . . . . . . . . . . . . . . 6 152683413 130388;rs4407724 G T 192.15 . #_unique_end_positions=,31;#_unique_start_positions=,28;AC=54;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5764;ALLELEID_clinvar_20171029_hg19=,135835;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6859;AN=54;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.3409|.|0.6591;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001251|MedGen:C0007758|SNOMED_CT:85102008|MedGen:C0410189|Orphanet:ORPHA261|SNOMED_CT:111508004|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.152683413G>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:41392;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_033071.3:c.10212C>A|_NM_182961.3:c.10191C>A;Coding_region_change_in_longest_transcript=,NM_182961.3:c.10191C>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7927;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6799;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,34;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,SYNE1:23345;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:23345;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:23345;Genotype=,G/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:17089;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:17089;Homo_sapiens_refseq_GRCh37.p13_Genes=,SYNE1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_033071.3|NM_182961.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene15078;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21645|rna21644;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608441;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608441;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene15078;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,152683413;RS_dbsnp_common_v150_hg19_refseq=,4407724;Read_count=,46;Read_coverage=,94;Read_direction_test_probability=,0.9850071966381768;Read_position_test_probability=,0.9711820560646967;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_033071.3|NM_182961.3;Reverse_read_coverage=,60;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5930;SF=0,1,2,4,5,6,7,8,9,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,29,30,31,32,33,34,35,36,37,38,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.366268|.|0.633732;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05016800030517053e100100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.728814;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.755556;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.788889;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.533333;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.334;db_xref=,GeneID:23345|HGNC:HGNC:17089|MIM:608441;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_033071.3|Genbank:NM_182961.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,spectrin_repeat_containing_nuclear_envelope_protein_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SYNE1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SYNE1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,8B|ARCA1|C6orf98|CPG2|dJ45H2.2|EDMD4|MYNE1|Nesp1|SCAR8;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_2|spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_1;transcript_id=,NM_033071.3|NM_182961.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon64:c.C10212A:p.G3404G,SYNE1:NM_182961:exon64:c.C10191A:p.G3397G;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.6481;esp6500siv2_ea=0.6806;esp6500siv2_all=0.6481;esp6500siv2_ea=0.6806;1000g2015aug_all=0.659145;avsnp147=rs4407724;Kaviar_AF=0.652644;Kaviar_AC=100900;Kaviar_AN=154602;ExAC_ALL=0.6541;ExAC_AFR=0.5801;ExAC_AMR=0.6690;ExAC_EAS=0.7889;ExAC_FIN=0.6039;ExAC_NFE=0.6652;ExAC_OTH=0.6630;ExAC_SAS=0.5944;CLNALLELEID=135835;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0702;dpsi_zscore=-0.349;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.6587;gnomAD_exome_AFR=0.5756;gnomAD_exome_AMR=0.6700;gnomAD_exome_ASJ=0.7085;gnomAD_exome_EAS=0.7899;gnomAD_exome_FIN=0.6059;gnomAD_exome_NFE=0.6701;gnomAD_exome_OTH=0.6538;gnomAD_exome_SAS=0.5962;gnomAD_genome_ALL=0.6496;gnomAD_genome_AFR=0.5876;gnomAD_genome_AMR=0.6746;gnomAD_genome_ASJ=0.7384;gnomAD_genome_EAS=0.7752;gnomAD_genome_FIN=0.6216;gnomAD_genome_NFE=0.6773;gnomAD_genome_OTH=0.6214;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:81:0,39 1/1:103:0,103 1/1:87:0,87 . 1/1:58:0,58 1/1:100:0,100 1:69:0,31 1/1:95:0,95 1:117:0,65 1:88:0,40 . 1:83:0,45 1:105:0,59 1/1:94:0,93 1:132:0,60 1:100:0,44 1/1:100:0,100 1:86:0,39 1/1:74:0,74 1/1:82:0,82 1/1:106:0,106 1:113:0,39 1:111:0,57 1:126:0,66 1:106:0,57 1/1:83:0,83 1:95:0,55 1:120:0,57 . 1/1:119:0,119 1:108:0,58 1:68:0,35 1/1:98:0,98 1/1:67:0,67 1:89:0,39 1/1:95:0,95 1:93:0,39 1:70:0,31 1:70:0,33 1:123:0,68 1:110:0,49 1:71:0,26 6 152686137 . T C 200.00 . #_unique_end_positions=,27;#_unique_start_positions=,25;AC=1;AN=1;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.15;Coding_region_change=,NM_033071.3:c.10011A>G|_NM_182961.3:c.9990A>G;Coding_region_change_in_longest_transcript=,NM_182961.3:c.9990A>G;Forward_read_coverage=,25;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:23345;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:23345;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:17089;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:17089;Homo_sapiens_refseq_GRCh37.p13_Genes=,SYNE1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_033071.3|NM_182961.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene15078;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21645|rna21644;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608441;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608441;Non-synonymous=,No;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene15078;QUAL=,200.0;Read_count=,40;Read_coverage=,75;Read_direction_test_probability=,0.9945123948259134;Read_position_test_probability=,0.9422256989901553;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_033071.3|NM_182961.3;Reverse_read_coverage=,50;SF=17;conservation_score=,0.878;db_xref=,GeneID:23345|HGNC:HGNC:17089|MIM:608441;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_033071.3|Genbank:NM_182961.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,spectrin_repeat_containing_nuclear_envelope_protein_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SYNE1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SYNE1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,8B|ARCA1|C6orf98|CPG2|dJ45H2.2|EDMD4|MYNE1|Nesp1|SCAR8;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_2|spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_1;transcript_id=,NM_033071.3|NM_182961.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon63:c.A10011G:p.K3337K,SYNE1:NM_182961:exon63:c.A9990G:p.K3330K;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs779326675;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=8.239e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.499e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0131;dpsi_zscore=0.089;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.061e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=8.953e-06;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . 1:68:0,36 . . . . . . . . . . . . . . . . . . . . . . . . 6 152694184 130453;rs6913579 T C 154.91 . #_unique_end_positions=,21;#_unique_start_positions=,16;AC=38;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4365;AF_EXAC_clinvar_20171029_hg19=,0.49932;AF_TGP_clinvar_20171029_hg19=,0.4683;ALLELEID_clinvar_20171029_hg19=,135899;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5360;AN=38;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.49;CAF_dbsnp_common_v150_hg19_refseq=,0.5317|0.4683|.;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001251|MedGen:C0007758|SNOMED_CT:85102008|MedGen:C0410189|Orphanet:ORPHA261|SNOMED_CT:111508004|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.152694184T>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:41406;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_033071.3:c.9516A>G|_NM_182961.3:c.9495A>G;Coding_region_change_in_longest_transcript=,NM_182961.3:c.9495A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4613;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5308;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,38;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,SYNE1:23345;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:23345;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:23345;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:17089;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:17089;Homo_sapiens_refseq_GRCh37.p13_Genes=,SYNE1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_033071.3|NM_182961.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene15078;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21645|rna21644;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608441;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608441;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene15078;QUAL=,156.53559774527022;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,152694184;RS_dbsnp_common_v150_hg19_refseq=,6913579;Read_count=,30;Read_coverage=,55;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.940003983076668;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_033071.3|NM_182961.3;Reverse_read_coverage=,17;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4059;SF=0,1,2,4,5,7,8,9,11,12,13,14,16,17,18,19,20,21,22,24,25,26,27,29,32,33,34,35,37,39,40;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.488907|0.511093|.;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05016800030515053f100101;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.387755;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.610169;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.402439;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.435294;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.409091;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.444444;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.344444;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.377778;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.428571;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.314685;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.488506;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.441667;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:23345|HGNC:HGNC:17089|MIM:608441;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_033071.3|Genbank:NM_182961.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,spectrin_repeat_containing_nuclear_envelope_protein_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SYNE1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SYNE1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,8B|ARCA1|C6orf98|CPG2|dJ45H2.2|EDMD4|MYNE1|Nesp1|SCAR8;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_2|spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_1;transcript_id=,NM_033071.3|NM_182961.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon59:c.A9516G:p.E3172E,SYNE1:NM_182961:exon59:c.A9495G:p.E3165E;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.5288;esp6500siv2_ea=0.5458;esp6500siv2_all=0.5288;esp6500siv2_ea=0.5458;1000g2015aug_all=0.468251;avsnp147=rs6913579;Kaviar_AF=0.481533;Kaviar_AC=74446;Kaviar_AN=154602;ExAC_ALL=0.4993;ExAC_AFR=0.4785;ExAC_AMR=0.4934;ExAC_EAS=0.4402;ExAC_FIN=0.4887;ExAC_NFE=0.5328;ExAC_OTH=0.4857;ExAC_SAS=0.4172;CLNALLELEID=135899;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-2.8777;dpsi_zscore=-2.125;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.5031;gnomAD_exome_AFR=0.4766;gnomAD_exome_AMR=0.4951;gnomAD_exome_ASJ=0.5536;gnomAD_exome_EAS=0.4429;gnomAD_exome_FIN=0.4899;gnomAD_exome_NFE=0.5394;gnomAD_exome_OTH=0.5011;gnomAD_exome_SAS=0.4209;gnomAD_genome_ALL=0.5133;gnomAD_genome_AFR=0.4821;gnomAD_genome_AMR=0.5276;gnomAD_genome_ASJ=0.5298;gnomAD_genome_EAS=0.4532;gnomAD_genome_FIN=0.5040;gnomAD_genome_NFE=0.5421;gnomAD_genome_OTH=0.4643;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:44:0,23 1/1:50:0,50 1:42:0,17 . 1/1:32:0,32 1:35:0,18 . 1/1:49:0,49 1:62:0,36 1:44:0,23 . 1:32:0,18 1:53:0,25 1:48:0,29 1:76:0,34 . 1:41:0,17 1:55:0,30 1:52:0,19 1:45:0,19 1/1:41:0,41 1/1:48:0,48 1:51:0,23 . 1:50:0,19 1:37:0,18 1:51:0,19 1:58:0,26 . 1/1:57:0,57 . . 1:50:0,27 1:38:0,17 1:51:0,22 1:48:0,25 . 1/1:34:0,34 . 1:45:0,29 1:59:0,21 . 6 152708310 130452;rs214950 G A 179.02 . #_unique_end_positions=,17;#_unique_start_positions=,17;AC=20;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1520;AF_ESP_clinvar_20171029_hg19=,0.1985;AF_EXAC_clinvar_20171029_hg19=,0.23729;AF_TGP_clinvar_20171029_hg19=,0.2490;ALLELEID_clinvar_20171029_hg19=,135898;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1614;AN=20;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_149062.1:p.Ala2802Val|_NP_892006.3:p.Ala2795Val;Amino_acid_change_in_longest_transcript=,NP_892006.3:p.Ala2795Val;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.751|0.249;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001251|MedGen:C0007758|SNOMED_CT:85102008|MedGen:C0410189|Orphanet:ORPHA261|SNOMED_CT:111508004|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.152708310G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:41414;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_033071.3:c.8405C>T|_NM_182961.3:c.8384C>T;Coding_region_change_in_longest_transcript=,NM_182961.3:c.8384C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4018;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2167;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,37;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,SYNE1:23345;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:23345;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:23345;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:17089;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:17089;Homo_sapiens_refseq_GRCh37.p13_Genes=,SYNE1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_033071.3|NM_182961.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene15078;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21645|rna21644;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608441;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608441;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene15078;QUAL=,142.73348532815416;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,152708310;RS_dbsnp_common_v150_hg19_refseq=,214950;Read_count=,22;Read_coverage=,60;Read_direction_test_probability=,0.970084076952745;Read_position_test_probability=,0.672588439314928;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_033071.3|NM_182961.3;Reverse_read_coverage=,23;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3180;SF=1,3,5,6,8,9,10,13,14,15,16,22,25,26,32,39,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.814136|0.185864;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050168000a0517053f100100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.114583;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.208333;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.47561;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.376471;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.3125;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.4;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.522222;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.166667;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.229167;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.146853;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.281609;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.2;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.0;db_xref=,GeneID:23345|HGNC:HGNC:17089|MIM:608441;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_033071.3|Genbank:NM_182961.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,spectrin_repeat_containing_nuclear_envelope_protein_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SYNE1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SYNE1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,8B|ARCA1|C6orf98|CPG2|dJ45H2.2|EDMD4|MYNE1|Nesp1|SCAR8;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_2|spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_1;transcript_id=,NM_033071.3|NM_182961.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon54:c.C8405T:p.A2802V,SYNE1:NM_182961:exon54:c.C8384T:p.A2795V;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.1984;esp6500siv2_ea=0.2190;esp6500siv2_all=0.1984;esp6500siv2_ea=0.2190;1000g2015aug_all=0.249002;avsnp147=rs214950;Kaviar_AF=0.232397;Kaviar_AC=35929;Kaviar_AN=154602;ExAC_ALL=0.2373;ExAC_AFR=0.1460;ExAC_AMR=0.1858;ExAC_EAS=0.4186;ExAC_FIN=0.1915;ExAC_NFE=0.2229;ExAC_OTH=0.2588;ExAC_SAS=0.3114;CLNALLELEID=135898;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.099;SIFT_pred=T;Polyphen2_HDIV_score=0.094;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.012;Polyphen2_HVAR_pred=B;LRT_score=0.021;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.69;MutationAssessor_pred=N;FATHMM_score=1.27;FATHMM_pred=T;PROVEAN_score=-1.95;PROVEAN_pred=N;VEST3_score=0.046;CADD_raw=0.486;CADD_phred=7.324;DANN_score=0.310;fathmm-MKL_coding_score=0.802;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.029;MetaSVM_pred=T;MetaLR_score=0.017;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=1.51;phyloP7way_vertebrate=-0.045;phyloP20way_mammalian=-0.274;phastCons7way_vertebrate=0.180;phastCons20way_mammalian=0.000;SiPhy_29way_logOdds=2.148;GDI_full_10282015=.;dpsi_max_tissue=-0.2875;dpsi_zscore=-0.834;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2350;gnomAD_exome_AFR=0.1467;gnomAD_exome_AMR=0.1884;gnomAD_exome_ASJ=0.2014;gnomAD_exome_EAS=0.4212;gnomAD_exome_FIN=0.1849;gnomAD_exome_NFE=0.2241;gnomAD_exome_OTH=0.2231;gnomAD_exome_SAS=0.3137;gnomAD_genome_ALL=0.2061;gnomAD_genome_AFR=0.1555;gnomAD_genome_AMR=0.1866;gnomAD_genome_ASJ=0.2533;gnomAD_genome_EAS=0.4410;gnomAD_genome_FIN=0.1855;gnomAD_genome_NFE=0.2138;gnomAD_genome_OTH=0.2265;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . 1:54:0,22 . 1:59:0,37 . 1:75:0,35 1:42:0,22 . 1:79:0,37 1:67:0,36 1:90:0,40 . . 1:74:0,44 1:91:0,46 1/1:57:0,57 1/1:71:0,71 . . . . . 1:58:0,27 . . 1:65:0,32 1:66:0,25 . . . . . 1:62:0,30 . . . . . . 1:70:0,23 . 1/1:67:0,67 6 152722328 . T C 200.00 . #_unique_end_positions=,29;#_unique_start_positions=,28;AC=1;AN=1;Amino_acid_change=,NP_149062.1:p.Glu2332Gly|_NP_892006.3:p.Glu2325Gly;Amino_acid_change_in_longest_transcript=,NP_892006.3:p.Glu2325Gly;BaseQRankSum=,-0.18;Coding_region_change=,NM_033071.3:c.6995A>G|_NM_182961.3:c.6974A>G;Coding_region_change_in_longest_transcript=,NM_182961.3:c.6974A>G;Forward_read_coverage=,63;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:23345;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:23345;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:17089;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:17089;Homo_sapiens_refseq_GRCh37.p13_Genes=,SYNE1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_033071.3|NM_182961.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene15078;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21645|rna21644;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608441;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608441;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene15078;QUAL=,200.0;Read_count=,44;Read_coverage=,83;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9542197963132188;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_033071.3|NM_182961.3;Reverse_read_coverage=,20;SF=40;conservation_score=,0.95;db_xref=,GeneID:23345|HGNC:HGNC:17089|MIM:608441;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_033071.3|Genbank:NM_182961.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,spectrin_repeat_containing_nuclear_envelope_protein_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SYNE1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SYNE1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,8B|ARCA1|C6orf98|CPG2|dJ45H2.2|EDMD4|MYNE1|Nesp1|SCAR8;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_2|spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_1;transcript_id=,NM_033071.3|NM_182961.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon47:c.A6995G:p.E2332G,SYNE1:NM_182961:exon47:c.A6974G:p.E2325G;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs777595583;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;ExAC_ALL=3.299e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=6e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.186;SIFT_pred=T;Polyphen2_HDIV_score=0.883;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.36;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.975;MutationTaster_pred=D;MutationAssessor_score=1.905;MutationAssessor_pred=M;FATHMM_score=1.24;FATHMM_pred=T;PROVEAN_score=-1.97;PROVEAN_pred=N;VEST3_score=0.424;CADD_raw=2.372;CADD_phred=18.64;DANN_score=0.980;fathmm-MKL_coding_score=0.955;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.082;MetaSVM_pred=T;MetaLR_score=0.066;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=5.37;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=1.061;phastCons7way_vertebrate=0.983;phastCons20way_mammalian=0.915;SiPhy_29way_logOdds=15.671;GDI_full_10282015=.;dpsi_max_tissue=-0.3939;dpsi_zscore=-0.976;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=1.626e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=3.584e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=3.227e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:77:0,41 . 6 152728223 rs377531174 C T 72.85 . #_unique_end_positions=,10;#_unique_start_positions=,8;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0008;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AN=1;Amino_acid_change=,NP_892006.3:p.Val2217Ile|_NP_149062.1:p.Val2224Ile;Amino_acid_change_in_longest_transcript=,NP_892006.3:p.Val2217Ile;BaseQRankSum=,0.0;Coding_region_change=,NM_033071.3:c.6670G>A|_NM_182961.3:c.6649G>A;Coding_region_change_in_longest_transcript=,NM_182961.3:c.6649G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;Exact_match=,1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,10;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:23345;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:23345;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:17089;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:17089;Homo_sapiens_refseq_GRCh37.p13_Genes=,SYNE1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_033071.3|NM_182961.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene15078;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21645|rna21644;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608441;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608441;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene15078;QUAL=,72.85036377930611;Read_count=,10;Read_coverage=,25;Read_direction_test_probability=,0.9543486715743983;Read_position_test_probability=,0.9878753792648128;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_033071.3|NM_182961.3;Reverse_read_coverage=,15;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=31;conservation_score=,0.408;db_xref=,GeneID:23345|HGNC:HGNC:17089|MIM:608441;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_033071.3|Genbank:NM_182961.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,spectrin_repeat_containing_nuclear_envelope_protein_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SYNE1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SYNE1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,8B|ARCA1|C6orf98|CPG2|dJ45H2.2|EDMD4|MYNE1|Nesp1|SCAR8;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_2|spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_1;transcript_id=,NM_033071.3|NM_182961.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon45:c.G6670A:p.V2224I,SYNE1:NM_182961:exon45:c.G6649A:p.V2217I;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.000399361;avsnp147=rs377531174;Kaviar_AF=0.0001164;Kaviar_AC=18;Kaviar_AN=154602;ExAC_ALL=8.239e-05;ExAC_AFR=9.612e-05;ExAC_AMR=0.0002;ExAC_EAS=0.0005;ExAC_FIN=0;ExAC_NFE=1.499e-05;ExAC_OTH=0;ExAC_SAS=0.0001;CLNALLELEID=521478;CLNDN=Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant;CLNDISDB=MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.601;SIFT_pred=T;Polyphen2_HDIV_score=0.004;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_pred=B;LRT_score=0.041;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=N;MutationAssessor_score=-0.55;MutationAssessor_pred=N;FATHMM_score=1.37;FATHMM_pred=T;PROVEAN_score=0.02;PROVEAN_pred=N;VEST3_score=0.031;CADD_raw=0.563;CADD_phred=7.897;DANN_score=0.763;fathmm-MKL_coding_score=0.142;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.045;MetaSVM_pred=T;MetaLR_score=0.017;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=1.89;phyloP7way_vertebrate=-0.510;phyloP20way_mammalian=0.023;phastCons7way_vertebrate=0.275;phastCons20way_mammalian=0.475;SiPhy_29way_logOdds=0.636;GDI_full_10282015=.;dpsi_max_tissue=-0.2300;dpsi_zscore=-0.742;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=8.937e-05;gnomAD_exome_AFR=0.0002;gnomAD_exome_AMR=0.0002;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0.0003;gnomAD_exome_FIN=0;gnomAD_exome_NFE=4.479e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=6.498e-05;gnomAD_genome_ALL=0.0001;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0001;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:24:0,10 . . . . . . . . . . 6 152746593 130446;rs111250109 A T 180.59 . #_unique_end_positions=,46;#_unique_start_positions=,43;AC=6;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0287;AF_ESP_clinvar_20171029_hg19=,0.0482;AF_EXAC_clinvar_20171029_hg19=,0.04420;AF_TGP_clinvar_20171029_hg19=,0.0328;ALLELEID_clinvar_20171029_hg19=,135892;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0288;AN=6;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_892006.3:p.Asp1730Glu|_NP_149062.1:p.Asp1737Glu;Amino_acid_change_in_longest_transcript=,NP_892006.3:p.Asp1730Glu;BaseQRankSum=,-0.27;CAF_dbsnp_common_v150_hg19_refseq=,0.9673|0.03275;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001251|MedGen:C0007758|SNOMED_CT:85102008|MedGen:C0410189|Orphanet:ORPHA261|SNOMED_CT:111508004|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.152746593A>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:57956;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_033071.3:c.5211T>A|_NM_182961.3:c.5190T>A;Coding_region_change_in_longest_transcript=,NM_182961.3:c.5190T>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0050;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0577;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,39;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,SYNE1:23345;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:23345;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:23345;Genotype=,T/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:17089;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:17089;Homo_sapiens_refseq_GRCh37.p13_Genes=,SYNE1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_033071.3|NM_182961.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene15078;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21645|rna21644;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608441;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608441;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene15078;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,152746593;RS_dbsnp_common_v150_hg19_refseq=,111250109;Read_count=,85;Read_coverage=,85;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_033071.3|NM_182961.3;Reverse_read_coverage=,46;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0440;SF=2,5,6,21,29;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.961742|0.0382581;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050168000a05150536100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.784;db_xref=,GeneID:23345|HGNC:HGNC:17089|MIM:608441;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_033071.3|Genbank:NM_182961.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,spectrin_repeat_containing_nuclear_envelope_protein_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SYNE1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SYNE1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,8B|ARCA1|C6orf98|CPG2|dJ45H2.2|EDMD4|MYNE1|Nesp1|SCAR8;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_2|spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_1;transcript_id=,NM_033071.3|NM_182961.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon39:c.T5211A:p.D1737E,SYNE1:NM_182961:exon39:c.T5190A:p.D1730E;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.0482;esp6500siv2_ea=0.0516;esp6500siv2_all=0.0482;esp6500siv2_ea=0.0516;1000g2015aug_all=0.0327476;avsnp147=rs111250109;Kaviar_AF=0.0433436;Kaviar_AC=6701;Kaviar_AN=154602;ExAC_ALL=0.0442;ExAC_AFR=0.0358;ExAC_AMR=0.0246;ExAC_EAS=0.0014;ExAC_FIN=0.0496;ExAC_NFE=0.0553;ExAC_OTH=0.0463;ExAC_SAS=0.0386;CLNALLELEID=135892;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.737;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.042;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=N;MutationAssessor_score=-0.14;MutationAssessor_pred=N;FATHMM_score=1.52;FATHMM_pred=T;PROVEAN_score=-0.19;PROVEAN_pred=N;VEST3_score=0.018;CADD_raw=-0.505;CADD_phred=0.213;DANN_score=0.807;fathmm-MKL_coding_score=0.034;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.974;MetaSVM_pred=T;MetaLR_score=0.007;MetaLR_pred=T;integrated_fitCons_score=0.497;integrated_confidence_value=0;GERP++_RS=-6.32;phyloP7way_vertebrate=0.042;phyloP20way_mammalian=-0.237;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=0.997;SiPhy_29way_logOdds=5.605;GDI_full_10282015=.;dpsi_max_tissue=0.3091;dpsi_zscore=0.904;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0428;gnomAD_exome_AFR=0.0351;gnomAD_exome_AMR=0.0247;gnomAD_exome_ASJ=0.0663;gnomAD_exome_EAS=0.0013;gnomAD_exome_FIN=0.0494;gnomAD_exome_NFE=0.0539;gnomAD_exome_OTH=0.0487;gnomAD_exome_SAS=0.0361;gnomAD_genome_ALL=0.0481;gnomAD_genome_AFR=0.0337;gnomAD_genome_AMR=0.0274;gnomAD_genome_ASJ=0.0762;gnomAD_genome_EAS=0.0019;gnomAD_genome_FIN=0.0475;gnomAD_genome_NFE=0.0622;gnomAD_genome_OTH=0.0468;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . 1/1:68:0,68 . . 1:51:0,23 1:31:0,17 . . . . . . . . . . . . . . 1:64:0,28 . . . . . . . 1:76:0,37 . . . . . . . . . . . . 6 152751278 130445;rs77675624 G T 39.08 . #_unique_end_positions=,6;#_unique_start_positions=,6;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0023;AF_ESP_clinvar_20171029_hg19=,0.0012;AF_EXAC_clinvar_20171029_hg19=,0.01261;AF_TGP_clinvar_20171029_hg19=,0.0108;ALLELEID_clinvar_20171029_hg19=,135891;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0187;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_149062.1:p.Thr1593Lys|_NP_892006.3:p.Thr1586Lys;Amino_acid_change_in_longest_transcript=,NP_892006.3:p.Thr1586Lys;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.9892|0.01078;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001251|MedGen:C0007758|SNOMED_CT:85102008|MedGen:C0410189|Orphanet:ORPHA261|SNOMED_CT:111508004|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.152751278G>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:279378;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_033071.3:c.4778C>A|_NM_182961.3:c.4757C>A;Coding_region_change_in_longest_transcript=,NM_182961.3:c.4757C>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0337;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,7;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,SYNE1:23345;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:23345;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:23345;Genotype=,G/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:17089;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:17089;Homo_sapiens_refseq_GRCh37.p13_Genes=,SYNE1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_033071.3|NM_182961.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene15078;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21645|rna21644;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608441;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608441;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene15078;QUAL=,39.07707669061929;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,152751278;RS_dbsnp_common_v150_hg19_refseq=,77675624;Read_count=,7;Read_coverage=,18;Read_direction_test_probability=,0.9993573494455246;Read_position_test_probability=,0.9150804981544832;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_033071.3|NM_182961.3;Reverse_read_coverage=,11;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0031;SF=17;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.996772|0.00322824;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050060000a05150436100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:23345|HGNC:HGNC:17089|MIM:608441;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_033071.3|Genbank:NM_182961.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,spectrin_repeat_containing_nuclear_envelope_protein_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SYNE1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SYNE1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,8B|ARCA1|C6orf98|CPG2|dJ45H2.2|EDMD4|MYNE1|Nesp1|SCAR8;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_2|spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_1;transcript_id=,NM_033071.3|NM_182961.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon36:c.C4778A:p.T1593K,SYNE1:NM_182961:exon36:c.C4757A:p.T1586K;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.0012;esp6500siv2_ea=0.0014;esp6500siv2_all=0.0012;esp6500siv2_ea=0.0014;1000g2015aug_all=0.0107827;avsnp147=rs77675624;Kaviar_AF=0.0078265;Kaviar_AC=1210;Kaviar_AN=154602;ExAC_ALL=0.0126;ExAC_AFR=0.0019;ExAC_AMR=0.0481;ExAC_EAS=0.0475;ExAC_FIN=0.0166;ExAC_NFE=0.0024;ExAC_OTH=0.0202;ExAC_SAS=0.0039;CLNALLELEID=135891;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.157;SIFT_pred=T;Polyphen2_HDIV_score=0.302;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.054;Polyphen2_HVAR_pred=B;LRT_score=0.020;LRT_pred=N;MutationTaster_score=0.969;MutationTaster_pred=D;MutationAssessor_score=1.39;MutationAssessor_pred=L;FATHMM_score=0.71;FATHMM_pred=T;PROVEAN_score=-1.37;PROVEAN_pred=N;VEST3_score=0.412;CADD_raw=3.699;CADD_phred=23.3;DANN_score=0.949;fathmm-MKL_coding_score=0.963;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.056;MetaSVM_pred=T;MetaLR_score=0.065;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=5.97;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.999;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=20.424;GDI_full_10282015=.;dpsi_max_tissue=-0.1078;dpsi_zscore=-0.472;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0108;gnomAD_exome_AFR=0.0010;gnomAD_exome_AMR=0.0416;gnomAD_exome_ASJ=0.0054;gnomAD_exome_EAS=0.0361;gnomAD_exome_FIN=0.0112;gnomAD_exome_NFE=0.0009;gnomAD_exome_OTH=0.0104;gnomAD_exome_SAS=0.0029;gnomAD_genome_ALL=0.0061;gnomAD_genome_AFR=0.0011;gnomAD_genome_AMR=0.0480;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0.0278;gnomAD_genome_FIN=0.0130;gnomAD_genome_NFE=0.0025;gnomAD_genome_OTH=0.0093;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . 1:17:0,6 . . . . . . . . . . . . . . . . . . . . . . . . 6 152763258 130444;rs138705766 T C 200.00 . #_unique_end_positions=,25;#_unique_start_positions=,22;AC=2;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0106;AF_ESP_clinvar_20171029_hg19=,0.0161;AF_EXAC_clinvar_20171029_hg19=,0.01931;AF_TGP_clinvar_20171029_hg19=,0.0128;ALLELEID_clinvar_20171029_hg19=,135890;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0159;AN=2;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.9872|0.01278;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001251|MedGen:C0007758|SNOMED_CT:85102008|MedGen:C0410189|Orphanet:ORPHA261|SNOMED_CT:111508004|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.152763258T>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:57967;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_033071.3:c.3981A>G|_NM_182961.3:c.3960A>G;Coding_region_change_in_longest_transcript=,NM_182961.3:c.3960A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0209;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,32;GENEINFO_dbsnp_common_v150_hg19_refseq=,SYNE1:23345;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:23345;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:23345;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:17089;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:17089;Homo_sapiens_refseq_GRCh37.p13_Genes=,SYNE1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_033071.3|NM_182961.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene15078;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21645|rna21644;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608441;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608441;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene15078;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,152763258;RS_dbsnp_common_v150_hg19_refseq=,138705766;Read_count=,28;Read_coverage=,56;Read_direction_test_probability=,0.9998986537845234;Read_position_test_probability=,0.8579699664684345;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_033071.3|NM_182961.3;Reverse_read_coverage=,24;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0174;SF=2,5;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.986881|0.013119;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050168000305140436100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.721;db_xref=,GeneID:23345|HGNC:HGNC:17089|MIM:608441;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_033071.3|Genbank:NM_182961.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,spectrin_repeat_containing_nuclear_envelope_protein_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SYNE1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SYNE1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,8B|ARCA1|C6orf98|CPG2|dJ45H2.2|EDMD4|MYNE1|Nesp1|SCAR8;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_2|spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_1;transcript_id=,NM_033071.3|NM_182961.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon31:c.A3981G:p.T1327T,SYNE1:NM_182961:exon31:c.A3960G:p.T1320T;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.0161;esp6500siv2_ea=0.0184;esp6500siv2_all=0.0161;esp6500siv2_ea=0.0184;1000g2015aug_all=0.0127796;avsnp147=rs138705766;Kaviar_AF=0.0181304;Kaviar_AC=2803;Kaviar_AN=154602;ExAC_ALL=0.0193;ExAC_AFR=0.0113;ExAC_AMR=0.0115;ExAC_EAS=0;ExAC_FIN=0.0307;ExAC_NFE=0.0227;ExAC_OTH=0.0278;ExAC_SAS=0.0212;CLNALLELEID=135890;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.6784;dpsi_zscore=1.295;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0187;gnomAD_exome_AFR=0.0111;gnomAD_exome_AMR=0.0112;gnomAD_exome_ASJ=0.0365;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0324;gnomAD_exome_NFE=0.0203;gnomAD_exome_OTH=0.0219;gnomAD_exome_SAS=0.0196;gnomAD_genome_ALL=0.0212;gnomAD_genome_AFR=0.0097;gnomAD_genome_AMR=0.0107;gnomAD_genome_ASJ=0.05;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0312;gnomAD_genome_NFE=0.0275;gnomAD_genome_OTH=0.0266;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . 1:54:0,27 . . 1:94:0,50 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6 152765579 130441;rs139524103 C T 68.41 . #_unique_end_positions=,27;#_unique_start_positions=,22;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0090;AF_EXAC_clinvar_20171029_hg19=,0.00878;AF_TGP_clinvar_20171029_hg19=,0.0068;ALLELEID_clinvar_20171029_hg19=,135887;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0159;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.9932|0.006789;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001251|MedGen:C0007758|SNOMED_CT:85102008|MedGen:C0410189|Orphanet:ORPHA261|SNOMED_CT:111508004|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.152765579C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:97572;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_033071.3:c.3825G>A|_NM_182961.3:c.3804G>A;Coding_region_change_in_longest_transcript=,NM_182961.3:c.3804G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0159;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,29;GENEINFO_dbsnp_common_v150_hg19_refseq=,SYNE1:23345;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:23345;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:23345;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:17089;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:17089;Homo_sapiens_refseq_GRCh37.p13_Genes=,SYNE1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_033071.3|NM_182961.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene15078;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21645|rna21644;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608441;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608441;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene15078;QUAL=,68.40606233472687;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,152765579;RS_dbsnp_common_v150_hg19_refseq=,139524103;Read_count=,38;Read_coverage=,55;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9938948870258019;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_033071.3|NM_182961.3;Reverse_read_coverage=,26;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0072;SF=40;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.994642|0.00535751;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050068000305040436100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:23345|HGNC:HGNC:17089|MIM:608441;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_033071.3|Genbank:NM_182961.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,spectrin_repeat_containing_nuclear_envelope_protein_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SYNE1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SYNE1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,8B|ARCA1|C6orf98|CPG2|dJ45H2.2|EDMD4|MYNE1|Nesp1|SCAR8;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_2|spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_1;transcript_id=,NM_033071.3|NM_182961.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon30:c.G3825A:p.L1275L,SYNE1:NM_182961:exon30:c.G3804A:p.L1268L;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.0090;esp6500siv2_ea=0.0124;esp6500siv2_all=0.0090;esp6500siv2_ea=0.0124;1000g2015aug_all=0.00678914;avsnp147=rs139524103;Kaviar_AF=0.0093595;Kaviar_AC=1447;Kaviar_AN=154602;ExAC_ALL=0.0088;ExAC_AFR=0.0014;ExAC_AMR=0.0068;ExAC_EAS=0;ExAC_FIN=0.0030;ExAC_NFE=0.0132;ExAC_OTH=0.0077;ExAC_SAS=0.0039;CLNALLELEID=135887;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.4707;dpsi_zscore=1.766;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0091;gnomAD_exome_AFR=0.0017;gnomAD_exome_AMR=0.0085;gnomAD_exome_ASJ=0.0160;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0034;gnomAD_exome_NFE=0.0135;gnomAD_exome_OTH=0.0122;gnomAD_exome_SAS=0.0039;gnomAD_genome_ALL=0.0076;gnomAD_genome_AFR=0.0019;gnomAD_genome_AMR=0.0072;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0029;gnomAD_genome_NFE=0.0130;gnomAD_genome_OTH=0.0061;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:49:0,34 . 6 152771849 130439;rs17082701 G A 200.00 . #_unique_end_positions=,58;#_unique_start_positions=,49;AC=7;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0688;AF_ESP_clinvar_20171029_hg19=,0.0715;AF_EXAC_clinvar_20171029_hg19=,0.05765;AF_TGP_clinvar_20171029_hg19=,0.0487;ALLELEID_clinvar_20171029_hg19=,135885;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0389;AN=7;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.33;CAF_dbsnp_common_v150_hg19_refseq=,0.9513|0.04872;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001251|MedGen:C0007758|SNOMED_CT:85102008|MedGen:C0410189|Orphanet:ORPHA261|SNOMED_CT:111508004|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.152771849G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:57988;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_033071.3:c.3327C>T|_NM_182961.3:c.3306C>T;Coding_region_change_in_longest_transcript=,NM_182961.3:c.3306C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0030;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0746;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,50;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,SYNE1:23345;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:23345;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:23345;Genotype=,A/A;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:17089;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:17089;Homo_sapiens_refseq_GRCh37.p13_Genes=,SYNE1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_033071.3|NM_182961.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene15078;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21645|rna21644;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608441;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608441;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene15078;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,152771849;RS_dbsnp_common_v150_hg19_refseq=,17082701;Read_count=,95;Read_coverage=,95;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_033071.3|NM_182961.3;Reverse_read_coverage=,45;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0491;SF=2,5,6,21,29,36;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.934886|0.0651144;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050168000305150537100100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.0714286;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0401786;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.0117647;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.0397727;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0116279;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.00581395;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.0786517;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.0804196;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.107955;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.123894;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.012;db_xref=,GeneID:23345|HGNC:HGNC:17089|MIM:608441;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_033071.3|Genbank:NM_182961.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,spectrin_repeat_containing_nuclear_envelope_protein_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SYNE1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SYNE1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,8B|ARCA1|C6orf98|CPG2|dJ45H2.2|EDMD4|MYNE1|Nesp1|SCAR8;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_2|spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_1;transcript_id=,NM_033071.3|NM_182961.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon27:c.C3327T:p.H1109H,SYNE1:NM_182961:exon27:c.C3306T:p.H1102H;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.0715;esp6500siv2_ea=0.0680;esp6500siv2_all=0.0715;esp6500siv2_ea=0.0680;1000g2015aug_all=0.048722;avsnp147=rs17082701;Kaviar_AF=0.0556655;Kaviar_AC=8606;Kaviar_AN=154602;ExAC_ALL=0.0576;ExAC_AFR=0.0770;ExAC_AMR=0.0333;ExAC_EAS=0.0006;ExAC_FIN=0.0567;ExAC_NFE=0.0687;ExAC_OTH=0.0584;ExAC_SAS=0.0483;CLNALLELEID=135885;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.2552;dpsi_zscore=-0.784;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0560;gnomAD_exome_AFR=0.0742;gnomAD_exome_AMR=0.0352;gnomAD_exome_ASJ=0.1067;gnomAD_exome_EAS=0.0009;gnomAD_exome_FIN=0.0562;gnomAD_exome_NFE=0.0663;gnomAD_exome_OTH=0.0634;gnomAD_exome_SAS=0.0456;gnomAD_genome_ALL=0.0657;gnomAD_genome_AFR=0.0709;gnomAD_genome_AMR=0.0394;gnomAD_genome_ASJ=0.1126;gnomAD_genome_EAS=0.0019;gnomAD_genome_FIN=0.0558;gnomAD_genome_NFE=0.0729;gnomAD_genome_OTH=0.0591;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . 1/1:88:0,88 . . 1:82:0,35 1:67:0,27 . . . . . . . . . . . . . . 1:77:0,37 . . . . . . . 1:118:0,53 . . . . . . 1:94:0,41 . . . . . 6 152771882 . C G 200.00 . #_unique_end_positions=,37;#_unique_start_positions=,37;AC=1;AN=1;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.19;Coding_region_change=,NM_033071.3:c.3294G>C|_NM_182961.3:c.3273G>C;Coding_region_change_in_longest_transcript=,NM_182961.3:c.3273G>C;Forward_read_coverage=,55;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:23345;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:23345;Genotype=,C/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:17089;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:17089;Homo_sapiens_refseq_GRCh37.p13_Genes=,SYNE1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_033071.3|NM_182961.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene15078;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21645|rna21644;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608441;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608441;Non-synonymous=,No;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene15078;QUAL=,200.0;Read_count=,46;Read_coverage=,97;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9865906527757226;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_033071.3|NM_182961.3;Reverse_read_coverage=,42;SF=11;conservation_score=,1.0;db_xref=,GeneID:23345|HGNC:HGNC:17089|MIM:608441;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_033071.3|Genbank:NM_182961.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,spectrin_repeat_containing_nuclear_envelope_protein_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SYNE1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SYNE1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,8B|ARCA1|C6orf98|CPG2|dJ45H2.2|EDMD4|MYNE1|Nesp1|SCAR8;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_2|spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_1;transcript_id=,NM_033071.3|NM_182961.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon27:c.G3294C:p.R1098R,SYNE1:NM_182961:exon27:c.G3273C:p.R1091R;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs753973860;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=8.237e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.498e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.4446;dpsi_zscore=1.074;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.061e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=8.954e-06;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . . . . 1:84:0,42 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6 152772264 130438;rs214976 A G 189.55 . #_unique_end_positions=,28;#_unique_start_positions=,30;AC=36;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.8086;AF_EXAC_clinvar_20171029_hg19=,0.48115;ALLELEID_clinvar_20171029_hg19=,135884;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3732;AN=36;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_892006.3:p.Val1035Ala|_NP_149062.1:p.Val1042Ala;Amino_acid_change_in_longest_transcript=,NP_892006.3:p.Val1035Ala;BaseQRankSum=,-0.15;CAF_dbsnp_common_v150_hg19_refseq=,0.3928|0.6072;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001251|MedGen:C0007758|SNOMED_CT:85102008|MedGen:C0410189|Orphanet:ORPHA261|SNOMED_CT:111508004|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.152772264A>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:41430;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_033071.3:c.3125T>C|_NM_182961.3:c.3104T>C;Coding_region_change_in_longest_transcript=,NM_182961.3:c.3104T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7490;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4473;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,64;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,SYNE1:23345;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:23345;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:23345;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:17089;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:17089;Homo_sapiens_refseq_GRCh37.p13_Genes=,SYNE1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_033071.3|NM_182961.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene15078;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21645|rna21644;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608441;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608441;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene15078;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,152772264;RS_dbsnp_common_v150_hg19_refseq=,214976;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,42;Read_coverage=,109;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9987686666269866;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_033071.3|NM_182961.3;Reverse_read_coverage=,45;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5194;SF=1,2,3,5,6,8,9,10,12,13,14,15,16,17,18,20,21,22,24,25,26,27,29,31,32,36,39,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.431966|0.568034;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050168000a0515053f100101;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.673469;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.341667;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.7375;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.753012;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.517045;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.711111;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.755556;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.775281;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.32;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.653846;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.482955;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.833333;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.005;db_xref=,GeneID:23345|HGNC:HGNC:17089|MIM:608441;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_033071.3|Genbank:NM_182961.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,spectrin_repeat_containing_nuclear_envelope_protein_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SYNE1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SYNE1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,8B|ARCA1|C6orf98|CPG2|dJ45H2.2|EDMD4|MYNE1|Nesp1|SCAR8;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_2|spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_1;transcript_id=,NM_033071.3|NM_182961.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon26:c.T3125C:p.V1042A,SYNE1:NM_182961:exon26:c.T3104C:p.V1035A;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.5325;esp6500siv2_ea=0.4295;esp6500siv2_all=0.5325;esp6500siv2_ea=0.4295;1000g2015aug_all=0.607228;avsnp147=rs214976;Kaviar_AF=0.471094;Kaviar_AC=72832;Kaviar_AN=154602;ExAC_ALL=0.4811;ExAC_AFR=0.7486;ExAC_AMR=0.3196;ExAC_EAS=0.7569;ExAC_FIN=0.4079;ExAC_NFE=0.4291;ExAC_OTH=0.5066;ExAC_SAS=0.5196;CLNALLELEID=135884;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.01;SIFT_pred=D;Polyphen2_HDIV_score=0.481;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.164;Polyphen2_HVAR_pred=B;LRT_score=0.325;LRT_pred=N;MutationTaster_score=0.499;MutationTaster_pred=P;MutationAssessor_score=1.955;MutationAssessor_pred=M;FATHMM_score=0.55;FATHMM_pred=T;PROVEAN_score=-2.35;PROVEAN_pred=N;VEST3_score=0.276;CADD_raw=3.767;CADD_phred=23.4;DANN_score=0.997;fathmm-MKL_coding_score=0.987;fathmm-MKL_coding_pred=D;MetaSVM_score=0.108;MetaSVM_pred=D;MetaLR_score=0.536;MetaLR_pred=D;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=5.84;phyloP7way_vertebrate=1.058;phyloP20way_mammalian=1.192;phastCons7way_vertebrate=0.997;phastCons20way_mammalian=0.998;SiPhy_29way_logOdds=16.560;GDI_full_10282015=.;dpsi_max_tissue=1.3077;dpsi_zscore=1.689;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.4674;gnomAD_exome_AFR=0.7529;gnomAD_exome_AMR=0.3251;gnomAD_exome_ASJ=0.4872;gnomAD_exome_EAS=0.7634;gnomAD_exome_FIN=0.3989;gnomAD_exome_NFE=0.4232;gnomAD_exome_OTH=0.4484;gnomAD_exome_SAS=0.5217;gnomAD_genome_ALL=0.5270;gnomAD_genome_AFR=0.7437;gnomAD_genome_AMR=0.3565;gnomAD_genome_ASJ=0.5302;gnomAD_genome_EAS=0.7779;gnomAD_genome_FIN=0.3912;gnomAD_genome_NFE=0.4198;gnomAD_genome_OTH=0.4491;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:DP:CLCAD2 . 1:91:0,36 1/1:86:0,86 1/1:55:0,55 . 1/1:69:0,69 1/1:60:0,60 . 1:75:0,30 1:72:0,42 1:85:0,37 . 1:76:0,43 1:70:0,33 1:97:0,50 1/1:88:0,88 1/1:78:0,78 1:70:0,33 1:70:0,35 . 1:70:0,40 1/1:80:0,80 1:67:0,32 . 1:103:0,47 1:54:0,19 1:77:0,42 1:96:0,50 . 1:68:0,44 . 1:63:0,28 1/1:64:0,64 . . . 1:70:0,33 . . 1:65:0,28 . 1:60:0,30 6 152777095 130437;rs17082709 A C 154.25 . #_unique_end_positions=,37;#_unique_start_positions=,28;AC=7;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0507;AF_ESP_clinvar_20171029_hg19=,0.0634;AF_EXAC_clinvar_20171029_hg19=,0.05559;AF_TGP_clinvar_20171029_hg19=,0.0433;ALLELEID_clinvar_20171029_hg19=,135883;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0375;AN=7;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_149062.1:p.Leu892Val|_NP_892006.3:p.Leu885Val;Amino_acid_change_in_longest_transcript=,NP_892006.3:p.Leu885Val;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.9567|0.04333;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001251|MedGen:C0007758|SNOMED_CT:85102008|MedGen:C0410189|Orphanet:ORPHA261|SNOMED_CT:111508004|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.152777095A>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:58019;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_033071.3:c.2674T>G|_NM_182961.3:c.2653T>G;Coding_region_change_in_longest_transcript=,NM_182961.3:c.2653T>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0020;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0736;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,28;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,SYNE1:23345;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:23345;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:23345;Genotype=,C/C;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:17089;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:17089;Homo_sapiens_refseq_GRCh37.p13_Genes=,SYNE1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_033071.3|NM_182961.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene15078;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21645|rna21644;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608441;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608441;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene15078;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,152777095;RS_dbsnp_common_v150_hg19_refseq=,17082709;Read_count=,61;Read_coverage=,61;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_033071.3|NM_182961.3;Reverse_read_coverage=,33;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0491;SF=2,5,6,21,29,36;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.944982|0.0550175;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050168000a05150537100100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.00847458;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0111111;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0333333;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.991;db_xref=,GeneID:23345|HGNC:HGNC:17089|MIM:608441;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_033071.3|Genbank:NM_182961.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,spectrin_repeat_containing_nuclear_envelope_protein_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SYNE1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SYNE1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,8B|ARCA1|C6orf98|CPG2|dJ45H2.2|EDMD4|MYNE1|Nesp1|SCAR8;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_2|spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_1;transcript_id=,NM_033071.3|NM_182961.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon23:c.T2674G:p.L892V,SYNE1:NM_182961:exon23:c.T2653G:p.L885V;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.0634;esp6500siv2_ea=0.0679;esp6500siv2_all=0.0634;esp6500siv2_ea=0.0679;1000g2015aug_all=0.0433307;avsnp147=rs17082709;Kaviar_AF=0.0554068;Kaviar_AC=8566;Kaviar_AN=154602;ExAC_ALL=0.0556;ExAC_AFR=0.0533;ExAC_AMR=0.0329;ExAC_EAS=0.0006;ExAC_FIN=0.0568;ExAC_NFE=0.0687;ExAC_OTH=0.0585;ExAC_SAS=0.0479;CLNALLELEID=135883;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.244;SIFT_pred=T;Polyphen2_HDIV_score=0.359;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.067;Polyphen2_HVAR_pred=B;LRT_score=0.118;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=N;MutationAssessor_score=1.5;MutationAssessor_pred=L;FATHMM_score=1.23;FATHMM_pred=T;PROVEAN_score=-0.65;PROVEAN_pred=N;VEST3_score=0.14;CADD_raw=0.696;CADD_phred=8.803;DANN_score=0.945;fathmm-MKL_coding_score=0.808;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.086;MetaSVM_pred=T;MetaLR_score=0.037;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=1.49;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=0.157;phastCons7way_vertebrate=0.622;phastCons20way_mammalian=0.766;SiPhy_29way_logOdds=3.672;GDI_full_10282015=.;dpsi_max_tissue=1.7443;dpsi_zscore=1.881;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0547;gnomAD_exome_AFR=0.0538;gnomAD_exome_AMR=0.0349;gnomAD_exome_ASJ=0.1075;gnomAD_exome_EAS=0.0009;gnomAD_exome_FIN=0.0562;gnomAD_exome_NFE=0.0664;gnomAD_exome_OTH=0.0633;gnomAD_exome_SAS=0.0454;gnomAD_genome_ALL=0.0607;gnomAD_genome_AFR=0.0522;gnomAD_genome_AMR=0.0382;gnomAD_genome_ASJ=0.1126;gnomAD_genome_EAS=0.0019;gnomAD_genome_FIN=0.0556;gnomAD_genome_NFE=0.0734;gnomAD_genome_OTH=0.0591;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . 1/1:49:0,49 . . 1:43:0,25 1:42:0,24 . . . . . . . . . . . . . . 1:47:0,21 . . . . . . . 1:55:0,26 . . . . . . 1:48:0,20 . . . . . 6 152779933 130431;rs34610829 G A 151.27 . #_unique_end_positions=,16;#_unique_start_positions=,13;AC=4;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0015;AF_ESP_clinvar_20171029_hg19=,0.0228;AF_EXAC_clinvar_20171029_hg19=,0.02514;AF_TGP_clinvar_20171029_hg19=,0.0116;ALLELEID_clinvar_20171029_hg19=,135877;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0187;AN=4;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_892006.3:p.Arg843Cys|_NP_149062.1:p.Arg850Cys;Amino_acid_change_in_longest_transcript=,NP_892006.3:p.Arg843Cys;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.9884|0.01158;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001251|MedGen:C0007758|SNOMED_CT:85102008|MedGen:C0410189|Orphanet:ORPHA261|SNOMED_CT:111508004|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.152779933G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:82440;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_033071.3:c.2548C>T|_NM_182961.3:c.2527C>T;Coding_region_change_in_longest_transcript=,NM_182961.3:c.2527C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0209;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,37;GENEINFO_dbsnp_common_v150_hg19_refseq=,SYNE1:23345;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:23345;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:23345;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:17089;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:17089;Homo_sapiens_refseq_GRCh37.p13_Genes=,SYNE1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_033071.3|NM_182961.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene15078;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21645|rna21644;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608441;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608441;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene15078;QUAL=,101.57133868142098;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,152779933;RS_dbsnp_common_v150_hg19_refseq=,34610829;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,21;Read_coverage=,59;Read_direction_test_probability=,0.9964747985662028;Read_position_test_probability=,0.748688377950157;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_033071.3|NM_182961.3;Reverse_read_coverage=,22;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0225;SF=8,9,18,22;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.981936|0.0180644;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050160000a05140536100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.717;db_xref=,GeneID:23345|HGNC:HGNC:17089|MIM:608441;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_033071.3|Genbank:NM_182961.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,spectrin_repeat_containing_nuclear_envelope_protein_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SYNE1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SYNE1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,8B|ARCA1|C6orf98|CPG2|dJ45H2.2|EDMD4|MYNE1|Nesp1|SCAR8;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_2|spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_1;transcript_id=,NM_033071.3|NM_182961.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon22:c.C2548T:p.R850C,SYNE1:NM_182961:exon22:c.C2527T:p.R843C;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.0228;esp6500siv2_ea=0.0312;esp6500siv2_all=0.0228;esp6500siv2_ea=0.0312;1000g2015aug_all=0.0115815;avsnp147=rs34610829;Kaviar_AF=0.0252325;Kaviar_AC=3901;Kaviar_AN=154602;ExAC_ALL=0.0251;ExAC_AFR=0.0048;ExAC_AMR=0.0180;ExAC_EAS=0.0003;ExAC_FIN=0.0183;ExAC_NFE=0.0333;ExAC_OTH=0.0352;ExAC_SAS=0.0250;CLNALLELEID=135877;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.193;SIFT_pred=T;Polyphen2_HDIV_score=0.958;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.646;Polyphen2_HVAR_pred=P;LRT_score=0.673;LRT_pred=N;MutationTaster_score=0.962;MutationTaster_pred=D;MutationAssessor_score=0.69;MutationAssessor_pred=N;FATHMM_score=1.26;FATHMM_pred=T;PROVEAN_score=-2.44;PROVEAN_pred=N;VEST3_score=0.217;CADD_raw=4.640;CADD_phred=24.5;DANN_score=0.999;fathmm-MKL_coding_score=0.713;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.980;MetaSVM_pred=T;MetaLR_score=0.103;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.34;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.953;phastCons7way_vertebrate=0.901;phastCons20way_mammalian=0.928;SiPhy_29way_logOdds=19.408;GDI_full_10282015=.;dpsi_max_tissue=-0.5523;dpsi_zscore=-1.143;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0245;gnomAD_exome_AFR=0.0056;gnomAD_exome_AMR=0.0169;gnomAD_exome_ASJ=0.0254;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0.0189;gnomAD_exome_NFE=0.0339;gnomAD_exome_OTH=0.0312;gnomAD_exome_SAS=0.0241;gnomAD_genome_ALL=0.0209;gnomAD_genome_AFR=0.0076;gnomAD_genome_AMR=0.0143;gnomAD_genome_ASJ=0.0199;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0183;gnomAD_genome_NFE=0.0313;gnomAD_genome_OTH=0.0316;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . 1:55:0,19 1:51:0,29 . . . . . . . . 1:51:0,22 . . . 1:79:0,40 . . . . . . . . . . . . . . . . . . . 6 152841652 . T C 200.00 . #_unique_end_positions=,32;#_unique_start_positions=,31;AC=1;AN=1;Amino_acid_change=,NP_892006.3:p.Lys84Arg|_NP_149062.1:p.Lys84Arg;Amino_acid_change_in_longest_transcript=,NP_892006.3:p.Lys84Arg;BaseQRankSum=,0.24;Coding_region_change=,NM_033071.3:c.251A>G|_NM_182961.3:c.251A>G;Coding_region_change_in_longest_transcript=,NM_182961.3:c.251A>G;Forward_read_coverage=,37;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:23345;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:23345;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:17089;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:17089;Homo_sapiens_refseq_GRCh37.p13_Genes=,SYNE1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_033071.3|NM_182961.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene15078;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21645|rna21644;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608441;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608441;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene15078;QUAL=,200.0;Read_count=,44;Read_coverage=,77;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.8787633617173254;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_033071.3|NM_182961.3;Reverse_read_coverage=,40;SF=16;conservation_score=,0.997;db_xref=,GeneID:23345|HGNC:HGNC:17089|MIM:608441;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_033071.3|Genbank:NM_182961.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,spectrin_repeat_containing_nuclear_envelope_protein_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SYNE1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SYNE1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,8B|ARCA1|C6orf98|CPG2|dJ45H2.2|EDMD4|MYNE1|Nesp1|SCAR8;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_2|spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_1;transcript_id=,NM_033071.3|NM_182961.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon5:c.A251G:p.K84R,SYNE1:NM_182961:exon6:c.A251G:p.K84R;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.653;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=0.845;MutationAssessor_pred=L;FATHMM_score=-3.59;FATHMM_pred=D;PROVEAN_score=-1.16;PROVEAN_pred=N;VEST3_score=0.726;CADD_raw=5.700;CADD_phred=26.8;DANN_score=0.997;fathmm-MKL_coding_score=0.995;fathmm-MKL_coding_pred=D;MetaSVM_score=0.518;MetaSVM_pred=D;MetaLR_score=0.776;MetaLR_pred=D;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=5.55;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=1.061;phastCons7way_vertebrate=0.915;phastCons20way_mammalian=0.998;SiPhy_29way_logOdds=15.986;GDI_full_10282015=.;dpsi_max_tissue=-1.4308;dpsi_zscore=-1.686;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=10 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . 1:67:0,38 . . . . . . . . . . . . . . . . . . . . . . . . . 6 152841658 rs143900928 C T 200.00 . #_unique_end_positions=,25;#_unique_start_positions=,18;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AN=1;Amino_acid_change=,NP_149062.1:p.Arg82Gln|_NP_892006.3:p.Arg82Gln;Amino_acid_change_in_longest_transcript=,NP_892006.3:p.Arg82Gln;BaseQRankSum=,0.22;Coding_region_change=,NM_033071.3:c.245G>A|_NM_182961.3:c.245G>A;Coding_region_change_in_longest_transcript=,NM_182961.3:c.245G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;Exact_match=,1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,22;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:23345;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:23345;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:17089;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:17089;Homo_sapiens_refseq_GRCh37.p13_Genes=,SYNE1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_033071.3|NM_182961.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene15078;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21645|rna21644;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608441;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608441;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene15078;QUAL=,200.0;Read_count=,29;Read_coverage=,65;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.97247355024524;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_033071.3|NM_182961.3;Reverse_read_coverage=,43;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=13;conservation_score=,0.97;db_xref=,GeneID:23345|HGNC:HGNC:17089|MIM:608441;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_033071.3|Genbank:NM_182961.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,spectrin_repeat_containing_nuclear_envelope_protein_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SYNE1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SYNE1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,8B|ARCA1|C6orf98|CPG2|dJ45H2.2|EDMD4|MYNE1|Nesp1|SCAR8;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_2|spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_1;transcript_id=,NM_033071.3|NM_182961.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon5:c.G245A:p.R82Q,SYNE1:NM_182961:exon6:c.G245A:p.R82Q;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.000199681;avsnp147=rs143900928;Kaviar_AF=9.7e-05;Kaviar_AC=15;Kaviar_AN=154602;ExAC_ALL=0.0001;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0.0002;ExAC_FIN=0;ExAC_NFE=0.0002;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.375;SIFT_pred=T;Polyphen2_HDIV_score=0.522;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.021;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_pred=D;MutationTaster_score=0.929;MutationTaster_pred=D;MutationAssessor_score=0.345;MutationAssessor_pred=N;FATHMM_score=-3.58;FATHMM_pred=D;PROVEAN_score=-0.74;PROVEAN_pred=N;VEST3_score=0.165;CADD_raw=4.024;CADD_phred=23.6;DANN_score=0.997;fathmm-MKL_coding_score=0.684;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.294;MetaSVM_pred=T;MetaLR_score=0.382;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=4.45;phyloP7way_vertebrate=0.033;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.923;phastCons20way_mammalian=0.996;SiPhy_29way_logOdds=4.104;GDI_full_10282015=.;dpsi_max_tissue=-1.1715;dpsi_zscore=-1.566;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=6.515e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=2.983e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0001;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=6.461e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0001;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:DP:CLCAD2 . . . . . . . . . . . . . 1:55:0,26 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6 152847284 262165;rs139156106 A G 143.31 . #_unique_end_positions=,18;#_unique_start_positions=,16;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0008;AF_ESP_clinvar_20171029_hg19=,0.0084;AF_EXAC_clinvar_20171029_hg19=,0.00773;AF_TGP_clinvar_20171029_hg19=,0.0028;ALLELEID_clinvar_20171029_hg19=,252211;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0072;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.9972|0.002796|.;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001251|MedGen:C0007758|SNOMED_CT:85102008|MedGen:C0410189|Orphanet:ORPHA261|SNOMED_CT:111508004|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000006.11:g.152847284A>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:265472;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_033071.3:c.156T>C|_NM_182961.3:c.156T>C;Coding_region_change_in_longest_transcript=,NM_182961.3:c.156T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0080;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,19;GENEINFO_dbsnp_common_v150_hg19_refseq=,SYNE1:23345;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:23345;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:23345;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:17089;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:17089;Homo_sapiens_refseq_GRCh37.p13_Genes=,SYNE1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_033071.3|NM_182961.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene15078;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna21645|rna21644;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608441;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608441;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene15078;QUAL=,143.313404797931;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,152847284;RS_dbsnp_common_v150_hg19_refseq=,139156106;Read_count=,20;Read_coverage=,49;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.7839976817824994;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_033071.3|NM_182961.3;Reverse_read_coverage=,30;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=10;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.992925|0.00700598|6.8686e-005;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050228000b05040036000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.934;db_xref=,GeneID:23345|HGNC:HGNC:17089|MIM:608441;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_033071.3|Genbank:NM_182961.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,spectrin_repeat_containing_nuclear_envelope_protein_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SYNE1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SYNE1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,8B|ARCA1|C6orf98|CPG2|dJ45H2.2|EDMD4|MYNE1|Nesp1|SCAR8;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_2|spectrin_repeat_containing_nuclear_envelope_protein_1|_transcript_variant_1;transcript_id=,NM_033071.3|NM_182961.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon4:c.T156C:p.D52D,SYNE1:NM_182961:exon5:c.T156C:p.D52D;cytoBand=6q25.2;genomicSuperDups=.;esp6500siv2_all=0.0084;esp6500siv2_ea=0.0114;esp6500siv2_all=0.0084;esp6500siv2_ea=0.0114;1000g2015aug_all=0.00279553;avsnp147=rs139156106;Kaviar_AF=0.0076648;Kaviar_AC=1185;Kaviar_AN=154602;ExAC_ALL=0.0077;ExAC_AFR=0.0017;ExAC_AMR=0.0013;ExAC_EAS=0.0001;ExAC_FIN=0.0126;ExAC_NFE=0.0119;ExAC_OTH=0.0033;ExAC_SAS=0.0012;CLNALLELEID=252211;CLNDN=Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.2696;dpsi_zscore=1.671;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0072;gnomAD_exome_AFR=0.0014;gnomAD_exome_AMR=0.0019;gnomAD_exome_ASJ=0.0105;gnomAD_exome_EAS=5.801e-05;gnomAD_exome_FIN=0.0123;gnomAD_exome_NFE=0.0112;gnomAD_exome_OTH=0.0058;gnomAD_exome_SAS=0.0013;gnomAD_genome_ALL=0.0085;gnomAD_genome_AFR=0.0017;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0.0166;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0172;gnomAD_genome_NFE=0.0117;gnomAD_genome_OTH=0.0071;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . . 1:45:0,20 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 7 35288320 . C A 200.00 . #_unique_end_positions=,41;#_unique_start_positions=,32;AC=1;AN=1;Amino_acid_change=,NP_001071121.1:p.Ala172Ser|_NP_001159692.1:p.Ala172Ser;Amino_acid_change_in_longest_transcript=,NP_001071121.1:p.Ala172Ser;BaseQRankSum=,0.0;Coding_region_change=,NM_001077653.2:c.514G>T|_NM_001166220.1:c.514G>T;Coding_region_change_in_longest_transcript=,NM_001077653.2:c.514G>T;Forward_read_coverage=,51;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:57057;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:57057;Genotype=,A/C;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:11598;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:11598;Homo_sapiens_refseq_GRCh37.p13_Genes=,TBX20;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001077653.2|NM_001166220.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene15677;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna22581|rna22582;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:606061;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:606061;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene15677;QUAL=,200.0;Read_count=,63;Read_coverage=,116;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.967807452496216;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001077653.2|NM_001166220.1;Reverse_read_coverage=,65;SF=40;conservation_score=,1.0;db_xref=,GeneID:57057|HGNC:HGNC:11598|MIM:606061;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001077653.2|Genbank:NM_001166220.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,T-box_20;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TBX20;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TBX20;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ASD4;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,T-box_20|_transcript_variant_1|T-box_20|_transcript_variant_2;transcript_id=,NM_001077653.2|NM_001166220.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TBX20;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TBX20:NM_001077653:exon3:c.G514T:p.A172S,TBX20:NM_001166220:exon3:c.G514T:p.A172S;cytoBand=7p14.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs749195999;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;ExAC_ALL=1.672e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=3.055e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.015;SIFT_pred=D;Polyphen2_HDIV_score=0.997;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.45;MutationAssessor_pred=M;FATHMM_score=-2.42;FATHMM_pred=D;PROVEAN_score=-2.92;PROVEAN_pred=D;VEST3_score=0.785;CADD_raw=7.019;CADD_phred=33;DANN_score=0.999;fathmm-MKL_coding_score=0.974;fathmm-MKL_coding_pred=D;MetaSVM_score=0.715;MetaSVM_pred=D;MetaLR_score=0.830;MetaLR_pred=D;integrated_fitCons_score=0.447;integrated_confidence_value=0;GERP++_RS=5.72;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.920;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=0.999;SiPhy_29way_logOdds=20.244;GDI_full_10282015=.;dpsi_max_tissue=-0.4839;dpsi_zscore=-1.076;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=8.178e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=1.812e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=10 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:104:0,54 . 7 35293193 rs336283 A G 194.92 . #_unique_end_positions=,59;#_unique_start_positions=,53;AC=67;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.8797;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6816;AN=67;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.15;CAF_dbsnp_common_v150_hg19_refseq=,0.3061|0.6939;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001077653.2:c.39T>C|_NM_001166220.1:c.39T>C;Coding_region_change_in_longest_transcript=,NM_001077653.2:c.39T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5893;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6789;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,56;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TBX20:57057;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:57057;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:57057;Genotype=,G/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:11598;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:11598;Homo_sapiens_refseq_GRCh37.p13_Genes=,TBX20;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001077653.2|NM_001166220.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene15677;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna22581|rna22582;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:606061;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:606061;Non-synonymous=,No;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene15677;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,35293193;RS_dbsnp_common_v150_hg19_refseq=,336283;Read_count=,137;Read_coverage=,137;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001077653.2|NM_001166220.1;Reverse_read_coverage=,81;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5746;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,37,38,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.239783|0.760217;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05010000030517053e000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:57057|HGNC:HGNC:11598|MIM:606061;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001077653.2|Genbank:NM_001166220.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,T-box_20;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TBX20;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TBX20;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ASD4;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,T-box_20|_transcript_variant_1|T-box_20|_transcript_variant_2;transcript_id=,NM_001077653.2|NM_001166220.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TBX20;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TBX20:NM_001077653:exon1:c.T39C:p.S13S,TBX20:NM_001166220:exon1:c.T39C:p.S13S;cytoBand=7p14.2;genomicSuperDups=.;esp6500siv2_all=0.7463;esp6500siv2_ea=0.6892;esp6500siv2_all=0.7463;esp6500siv2_ea=0.6892;1000g2015aug_all=0.69389;avsnp147=rs336283;Kaviar_AF=0.674991;Kaviar_AC=104355;Kaviar_AN=154602;ExAC_ALL=0.6767;ExAC_AFR=0.8577;ExAC_AMR=0.7115;ExAC_EAS=0.5654;ExAC_FIN=0.6532;ExAC_NFE=0.6791;ExAC_OTH=0.6775;ExAC_SAS=0.5961;CLNALLELEID=508825;CLNDN=Atrial_septal_defect_4|Cardiovascular_phenotype;CLNDISDB=MedGen:C1969657,OMIM:611363|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.6785;gnomAD_exome_AFR=0.8562;gnomAD_exome_AMR=0.7221;gnomAD_exome_ASJ=0.7119;gnomAD_exome_EAS=0.5644;gnomAD_exome_FIN=0.6544;gnomAD_exome_NFE=0.6824;gnomAD_exome_OTH=0.6877;gnomAD_exome_SAS=0.5974;gnomAD_genome_ALL=0.7209;gnomAD_genome_AFR=0.8596;gnomAD_genome_AMR=0.7196;gnomAD_genome_ASJ=0.7583;gnomAD_genome_EAS=0.5611;gnomAD_genome_FIN=0.6598;gnomAD_genome_NFE=0.6756;gnomAD_genome_OTH=0.65;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1/1:111:0,111 1/1:159:0,159 1:104:0,50 1/1:157:0,157 1:127:0,65 1/1:135:0,135 1/1:128:0,127 1:143:0,68 1/1:157:0,157 1/1:147:0,147 1/1:167:0,167 1:153:0,90 1/1:169:0,169 1/1:149:0,149 1:191:0,72 1:152:0,79 1/1:170:0,170 1/1:152:0,152 1:137:0,75 1/1:133:0,133 1:103:0,48 1:161:0,77 1/1:169:0,168 1/1:141:0,141 1:192:0,96 1/1:113:0,113 1/1:146:0,146 1/1:192:0,192 1/1:197:0,197 1/1:206:0,206 1/1:157:0,157 1/1:106:0,106 1:112:0,55 1/1:119:0,119 1/1:142:0,142 1/1:124:0,124 . 1:114:0,49 1/1:111:0,111 1:158:0,86 1:172:0,90 1:117:0,61 7 35293222 rs147393830 T A 200.00 . #_unique_end_positions=,51;#_unique_start_positions=,52;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001159692.1:p.Thr4Ser|_NP_001071121.1:p.Thr4Ser;Amino_acid_change_in_longest_transcript=,NP_001071121.1:p.Thr4Ser;BaseQRankSum=,-0.02;CAF_dbsnp_common_v150_hg19_refseq=,0.9994|0.000599;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001077653.2:c.10A>T|_NM_001166220.1:c.10A>T;Coding_region_change_in_longest_transcript=,NM_001077653.2:c.10A>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0030;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,73;GENEINFO_dbsnp_common_v150_hg19_refseq=,TBX20:57057;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:57057;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:57057;Genotype=,A/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:11598;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:11598;Homo_sapiens_refseq_GRCh37.p13_Genes=,TBX20;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001077653.2|NM_001166220.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene15677;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna22581|rna22582;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:606061;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:606061;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene15677;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,35293222;RS_dbsnp_common_v150_hg19_refseq=,147393830;Read_count=,96;Read_coverage=,201;Read_direction_test_probability=,0.9991345738316232;Read_position_test_probability=,0.708520016602363;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001077653.2|NM_001166220.1;Reverse_read_coverage=,128;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=10;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.999863|0.000137372;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050000000a05040036000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:57057|HGNC:HGNC:11598|MIM:606061;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001077653.2|Genbank:NM_001166220.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,T-box_20;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TBX20;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TBX20;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ASD4;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,T-box_20|_transcript_variant_1|T-box_20|_transcript_variant_2;transcript_id=,NM_001077653.2|NM_001166220.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TBX20;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TBX20:NM_001077653:exon1:c.A10T:p.T4S,TBX20:NM_001166220:exon1:c.A10T:p.T4S;cytoBand=7p14.2;genomicSuperDups=.;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;1000g2015aug_all=0.000599042;avsnp147=rs147393830;Kaviar_AF=0.0001488;Kaviar_AC=23;Kaviar_AN=154602;ExAC_ALL=0.0002;ExAC_AFR=0;ExAC_AMR=0.0002;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0003;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.06;SIFT_pred=T;Polyphen2_HDIV_score=0.882;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.332;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=0.805;MutationAssessor_pred=L;FATHMM_score=-2.32;FATHMM_pred=D;PROVEAN_score=-0.18;PROVEAN_pred=N;VEST3_score=0.517;CADD_raw=2.411;CADD_phred=18.89;DANN_score=0.992;fathmm-MKL_coding_score=0.981;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.136;MetaSVM_pred=T;MetaLR_score=0.456;MetaLR_pred=T;integrated_fitCons_score=0.623;integrated_confidence_value=0;GERP++_RS=5.07;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=1.061;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=14.517;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0001;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0001;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0002;gnomAD_exome_OTH=0.0004;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0001;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0003;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:DP:CLCAD2 . . . . . . . . . . 1:183:0,89 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 7 81588636 256767;rs1229502 G A 67.36 . #_unique_end_positions=,10;#_unique_start_positions=,11;AC=31;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1127;AF_ESP_clinvar_20171029_hg19=,0.2553;AF_EXAC_clinvar_20171029_hg19=,0.28586;AF_TGP_clinvar_20171029_hg19=,0.2226;ALLELEID_clinvar_20171029_hg19=,252942;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2550;AN=31;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.31;CAF_dbsnp_common_v150_hg19_refseq=,0.7774|0.2226;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374|MedGen:CN230736;CLNDN_clinvar_20171029_hg19=,not_specified|Cardiovascular_phenotype;CLNHGVS_clinvar_20171029_hg19=,NC_000007.13:g.81588636G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000722.3:c.3114C>T;Coding_region_change_in_longest_transcript=,NM_000722.3:c.3114C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2371;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3042;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,11;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,CACNA2D1:781;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:781;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:781;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:1399;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:1399;Homo_sapiens_refseq_GRCh37.p13_Genes=,CACNA2D1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_000722.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene16308;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna23288;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:114204;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:114204;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene16308;QUAL=,93.62732575587361;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,81588636;RS_dbsnp_common_v150_hg19_refseq=,1229502;Read_count=,12;Read_coverage=,27;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.8792524099314583;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_000722.3;Reverse_read_coverage=,16;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2495;SF=0,1,2,3,4,5,6,9,10,12,14,15,17,18,20,22,23,24,25,26,29,32,33,38,39,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.78776|0.21224;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128000305170537000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.22449;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.327434;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.280488;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.205882;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.329545;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.313953;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.317647;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.127778;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.27;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.20979;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.304598;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0840708;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:781|HGNC:HGNC:1399|MIM:114204;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_000722.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,calcium_voltage-gated_channel_auxiliary_subunit_alpha2delta_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CACNA2D1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,CACNA2D1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CACNA2|CACNL2A|CCHL2A|LINC01112|lncRNA-N3;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,calcium_voltage-gated_channel_auxiliary_subunit_alpha2delta_1|_transcript_variant_1;transcript_id=,NM_000722.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CACNA2D1:NM_000722:exon38:c.C3114T:p.P1038P;cytoBand=7q21.11;genomicSuperDups=.;esp6500siv2_all=0.2553;esp6500siv2_ea=0.3153;esp6500siv2_all=0.2553;esp6500siv2_ea=0.3153;1000g2015aug_all=0.222644;avsnp147=rs1229502;Kaviar_AF=0.282655;Kaviar_AC=43699;Kaviar_AN=154602;ExAC_ALL=0.2859;ExAC_AFR=0.1376;ExAC_AMR=0.3414;ExAC_EAS=0.2456;ExAC_FIN=0.2776;ExAC_NFE=0.3047;ExAC_OTH=0.2721;ExAC_SAS=0.2898;CLNALLELEID=252942;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-3.0141;dpsi_zscore=-2.158;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2913;gnomAD_exome_AFR=0.1351;gnomAD_exome_AMR=0.3434;gnomAD_exome_ASJ=0.3164;gnomAD_exome_EAS=0.2368;gnomAD_exome_FIN=0.2835;gnomAD_exome_NFE=0.3061;gnomAD_exome_OTH=0.2908;gnomAD_exome_SAS=0.2870;gnomAD_genome_ALL=0.2508;gnomAD_genome_AFR=0.1352;gnomAD_genome_AMR=0.2981;gnomAD_genome_ASJ=0.3311;gnomAD_genome_EAS=0.2162;gnomAD_genome_FIN=0.2905;gnomAD_genome_NFE=0.3054;gnomAD_genome_OTH=0.2965;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:26:0,12 1/1:25:0,25 1:20:0,6 1:20:0,11 1:20:0,10 1/1:16:0,16 1:12:0,5 . . 1/1:21:0,21 1:21:0,13 . 1:25:0,10 . 1:23:0,10 1:13:0,5 . 1:25:0,10 1:24:0,12 . 1/1:27:0,27 . 1:19:0,6 1:22:0,12 1:23:0,16 1:23:0,13 1:19:0,9 . . 1:15:0,5 . . 1:15:0,8 1/1:15:0,15 . . . . 1:19:0,8 1:21:0,9 . 1:17:0,5 7 81596952 . G T 15.21 . #_unique_end_positions=,3;#_unique_start_positions=,3;AC=1;AN=1;Amino_acid_change=,NP_000713.2:p.Ser808Tyr;Amino_acid_change_in_longest_transcript=,NP_000713.2:p.Ser808Tyr;BaseQRankSum=,0.55;Coding_region_change=,NM_000722.3:c.2423C>A;Coding_region_change_in_longest_transcript=,NM_000722.3:c.2423C>A;Forward_read_coverage=,8;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:781;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:781;Genotype=,G/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:1399;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:1399;Homo_sapiens_refseq_GRCh37.p13_Genes=,CACNA2D1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_000722.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene16308;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna23288;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:114204;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:114204;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene16308;QUAL=,15.20597046159673;Read_count=,4;Read_coverage=,17;Read_direction_test_probability=,0.8145788615300288;Read_position_test_probability=,0.5126475706596134;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_000722.3;Reverse_read_coverage=,9;SF=41;conservation_score=,0.995;db_xref=,GeneID:781|HGNC:HGNC:1399|MIM:114204;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_000722.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,calcium_voltage-gated_channel_auxiliary_subunit_alpha2delta_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CACNA2D1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,CACNA2D1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CACNA2|CACNL2A|CCHL2A|LINC01112|lncRNA-N3;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,calcium_voltage-gated_channel_auxiliary_subunit_alpha2delta_1|_transcript_variant_1;transcript_id=,NM_000722.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CACNA2D1:NM_000722:exon30:c.C2423A:p.S808Y;cytoBand=7q21.11;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.938;SIFT_pred=T;Polyphen2_HDIV_score=0.543;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.317;Polyphen2_HVAR_pred=B;LRT_score=0.100;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=N;MutationAssessor_score=1.245;MutationAssessor_pred=L;FATHMM_score=-0.51;FATHMM_pred=T;PROVEAN_score=-0.71;PROVEAN_pred=N;VEST3_score=0.792;CADD_raw=0.973;CADD_phred=10.50;DANN_score=0.282;fathmm-MKL_coding_score=0.467;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.863;MetaSVM_pred=T;MetaLR_score=0.209;MetaLR_pred=T;integrated_fitCons_score=0.693;integrated_confidence_value=0;GERP++_RS=4.52;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.902;phastCons7way_vertebrate=0.857;phastCons20way_mammalian=0.999;SiPhy_29way_logOdds=9.653;GDI_full_10282015=.;dpsi_max_tissue=0.2044;dpsi_zscore=0.731;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:12:0,3 7 81599241 180288 C G 43.97 . #_unique_end_positions=,5;#_unique_start_positions=,5;AC=1;AF_ESP_clinvar_20171029_hg19=,0.0007;AF_EXAC_clinvar_20171029_hg19=,0.00077;ALLELEID_clinvar_20171029_hg19=,178582;AN=1;Amino_acid_change=,NP_000713.2:p.Ser755Thr;Amino_acid_change_in_longest_transcript=,NP_000713.2:p.Ser755Thr;BaseQRankSum=,0.52;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001695|MedGen:C0018790|MedGen:C1142166|Orphanet:ORPHA130|SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736;CLNDN_clinvar_20171029_hg19=,Cardiac_arrest|Brugada_syndrome|not_specified|Cardiovascular_phenotype;CLNHGVS_clinvar_20171029_hg19=,NC_000007.13:g.81599241C>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_conflicting_interpretations;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;Coding_region_change=,NM_000722.3:c.2264G>C;Coding_region_change_in_longest_transcript=,NM_000722.3:c.2264G>C;Exact_match=,clinvar_20171029_hg19;Forward_read_coverage=,5;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:781;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:781;Genotype=,C/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:1399;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:1399;Homo_sapiens_refseq_GRCh37.p13_Genes=,CACNA2D1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_000722.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene16308;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna23288;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:114204;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:114204;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene16308;QUAL=,43.96712534979375;Read_count=,6;Read_coverage=,11;Read_direction_test_probability=,0.8129112465438725;Read_position_test_probability=,0.4344326788162566;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_000722.3;Reverse_read_coverage=,6;SF=16;conservation_score=,0.996;db_xref=,GeneID:781|HGNC:HGNC:1399|MIM:114204;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_000722.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,calcium_voltage-gated_channel_auxiliary_subunit_alpha2delta_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CACNA2D1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,CACNA2D1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CACNA2|CACNL2A|CCHL2A|LINC01112|lncRNA-N3;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,calcium_voltage-gated_channel_auxiliary_subunit_alpha2delta_1|_transcript_variant_1;transcript_id=,NM_000722.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CACNA2D1:NM_000722:exon28:c.G2264C:p.S755T;cytoBand=7q21.11;genomicSuperDups=.;esp6500siv2_all=0.0007;esp6500siv2_ea=0.0010;esp6500siv2_all=0.0007;esp6500siv2_ea=0.0010;1000g2015aug_all=.;avsnp147=rs151327713;Kaviar_AF=0.0007956;Kaviar_AC=123;Kaviar_AN=154602;ExAC_ALL=0.0008;ExAC_AFR=0;ExAC_AMR=0.0004;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0012;ExAC_OTH=0;ExAC_SAS=0.0005;CLNALLELEID=178582;CLNDN=Cardiac_arrest|Brugada_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0001695,MedGen:C0018790|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.092;SIFT_pred=T;Polyphen2_HDIV_score=0.429;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.175;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=1.63;MutationAssessor_pred=L;FATHMM_score=-0.97;FATHMM_pred=T;PROVEAN_score=-1.35;PROVEAN_pred=N;VEST3_score=0.693;CADD_raw=2.877;CADD_phred=21.7;DANN_score=0.987;fathmm-MKL_coding_score=0.940;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.411;MetaSVM_pred=T;MetaLR_score=0.351;MetaLR_pred=T;integrated_fitCons_score=0.706;integrated_confidence_value=0;GERP++_RS=5.81;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.997;phastCons20way_mammalian=0.997;SiPhy_29way_logOdds=20.090;GDI_full_10282015=.;dpsi_max_tissue=-0.0427;dpsi_zscore=-0.231;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM111612#"Short_QT_syndrome";gnomAD_exome_ALL=0.0009;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0008;gnomAD_exome_ASJ=0.0105;gnomAD_exome_EAS=0;gnomAD_exome_FIN=4.499e-05;gnomAD_exome_NFE=0.0007;gnomAD_exome_OTH=0.0007;gnomAD_exome_SAS=0.0004;gnomAD_genome_ALL=0.0003;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0005;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . 1:10:0,5 . . . . . . . . . . . . . . . . . . . . . . . . . 7 81641500 238179;rs73151504 G A 23.52 . #_unique_end_positions=,8;#_unique_start_positions=,9;AC=2;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0059;AF_EXAC_clinvar_20171029_hg19=,0.00876;AF_TGP_clinvar_20171029_hg19=,0.0032;ALLELEID_clinvar_20171029_hg19=,240182;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0014;AN=2;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.9968|0.003195;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1142166|Orphanet:ORPHA130|SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736;CLNDN_clinvar_20171029_hg19=,Brugada_syndrome|not_specified|Cardiovascular_phenotype;CLNHGVS_clinvar_20171029_hg19=,NC_000007.13:g.81641500G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000722.3:c.1332C>T;Coding_region_change_in_longest_transcript=,NM_000722.3:c.1332C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0149;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,8;GENEINFO_dbsnp_common_v150_hg19_refseq=,LOC101927356:101927356|CACNA2D1:781;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:781|GeneID:101927356;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:781;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:1399;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:1399;Homo_sapiens_refseq_GRCh37.p13_Genes=,CACNA2D1|LOC101927356;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_000722.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene16308|gene16309;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna23288;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:114204;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:114204;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene16308;QUAL=,38.1040079213694;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,81641500;RS_dbsnp_common_v150_hg19_refseq=,73151504;Read_count=,9;Read_coverage=,14;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9350369239777568;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_000722.3;Reverse_read_coverage=,6;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=6,13;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.996119|0.00388076;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05006008030504043e100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.95;db_xref=,GeneID:781|HGNC:HGNC:1399|MIM:114204|GeneID:101927356;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_000722.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,calcium_voltage-gated_channel_auxiliary_subunit_alpha2delta_1|uncharacterized_LOC101927356;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CACNA2D1|LOC101927356;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,CACNA2D1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding|lncRNA;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CACNA2|CACNL2A|CCHL2A|LINC01112|lncRNA-N3;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,calcium_voltage-gated_channel_auxiliary_subunit_alpha2delta_1|_transcript_variant_1;transcript_id=,NM_000722.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CACNA2D1:NM_000722:exon15:c.C1332T:p.V444V;cytoBand=7q21.11;genomicSuperDups=.;esp6500siv2_all=0.0059;esp6500siv2_ea=0.0083;esp6500siv2_all=0.0059;esp6500siv2_ea=0.0083;1000g2015aug_all=0.00319489;avsnp147=rs73151504;Kaviar_AF=0.0084863;Kaviar_AC=1312;Kaviar_AN=154602;ExAC_ALL=0.0088;ExAC_AFR=0.0013;ExAC_AMR=0.0027;ExAC_EAS=0;ExAC_FIN=0.0176;ExAC_NFE=0.0122;ExAC_OTH=0.0133;ExAC_SAS=0.0046;CLNALLELEID=240182;CLNDN=Brugada_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.3630;dpsi_zscore=0.976;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0079;gnomAD_exome_AFR=0.0010;gnomAD_exome_AMR=0.0024;gnomAD_exome_ASJ=0.0034;gnomAD_exome_EAS=5.805e-05;gnomAD_exome_FIN=0.0184;gnomAD_exome_NFE=0.0109;gnomAD_exome_OTH=0.0119;gnomAD_exome_SAS=0.0045;gnomAD_genome_ALL=0.0097;gnomAD_genome_AFR=0.0018;gnomAD_genome_AMR=0.0048;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0179;gnomAD_genome_NFE=0.0135;gnomAD_genome_OTH=0.0165;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . 1:14:0,9 . . . . . . 1:20:0,16 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 7 81643728 . C T 3.46 . #_unique_end_positions=,2;#_unique_start_positions=,1;AC=1;AN=1;Amino_acid_change=,NP_000713.2:p.Cys404Tyr;Amino_acid_change_in_longest_transcript=,NP_000713.2:p.Cys404Tyr;BaseQRankSum=,0.0;Coding_region_change=,NM_000722.3:c.1211G>A;Coding_region_change_in_longest_transcript=,NM_000722.3:c.1211G>A;Forward_read_coverage=,4;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:781|GeneID:101927356;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:781;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:1399;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:1399;Homo_sapiens_refseq_GRCh37.p13_Genes=,CACNA2D1|LOC101927356;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_000722.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene16308|gene16309;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna23288;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:114204;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:114204;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene16308;QUAL=,3.46419728674707;Read_count=,3;Read_coverage=,16;Read_direction_test_probability=,0.9794220692624027;Read_position_test_probability=,0.7714668792264248;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_000722.3;Reverse_read_coverage=,12;SF=18;conservation_score=,1.0;db_xref=,GeneID:781|HGNC:HGNC:1399|MIM:114204|GeneID:101927356;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_000722.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,calcium_voltage-gated_channel_auxiliary_subunit_alpha2delta_1|uncharacterized_LOC101927356;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CACNA2D1|LOC101927356;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,CACNA2D1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding|lncRNA;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CACNA2|CACNL2A|CCHL2A|LINC01112|lncRNA-N3;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,calcium_voltage-gated_channel_auxiliary_subunit_alpha2delta_1|_transcript_variant_1;transcript_id=,NM_000722.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CACNA2D1:NM_000722:exon13:c.G1211A:p.C404Y;cytoBand=7q21.11;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.969;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.94;MutationAssessor_pred=M;FATHMM_score=-1.68;FATHMM_pred=D;PROVEAN_score=-10.05;PROVEAN_pred=D;VEST3_score=0.826;CADD_raw=6.720;CADD_phred=32;DANN_score=0.997;fathmm-MKL_coding_score=0.978;fathmm-MKL_coding_pred=D;MetaSVM_score=0.701;MetaSVM_pred=D;MetaLR_score=0.756;MetaLR_pred=D;integrated_fitCons_score=0.706;integrated_confidence_value=0;GERP++_RS=5.24;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.807;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=0.999;SiPhy_29way_logOdds=17.585;GDI_full_10282015=.;dpsi_max_tissue=-0.6344;dpsi_zscore=-1.215;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=10 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . 1:13:0,2 . . . . . . . . . . . . . . . . . . . . . . . 7 81667468 256769;rs2229952 C T 87.01 . #_unique_end_positions=,10;#_unique_start_positions=,12;AC=2;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0015;AF_ESP_clinvar_20171029_hg19=,0.0326;AF_EXAC_clinvar_20171029_hg19=,0.03851;AF_TGP_clinvar_20171029_hg19=,0.0194;ALLELEID_clinvar_20171029_hg19=,252943;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0144;AN=2;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.4;CAF_dbsnp_common_v150_hg19_refseq=,0.9806|0.01937;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1142166|Orphanet:ORPHA130|SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736;CLNDN_clinvar_20171029_hg19=,Brugada_syndrome|not_specified|Cardiovascular_phenotype;CLNHGVS_clinvar_20171029_hg19=,NC_000007.13:g.81667468C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000722.3:c.963G>A;Coding_region_change_in_longest_transcript=,NM_000722.3:c.963G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0577;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,8;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,CACNA2D1:781;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:781;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:781;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:1399;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:1399;Homo_sapiens_refseq_GRCh37.p13_Genes=,CACNA2D1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_000722.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene16308;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna23288;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:114204;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:114204;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene16308;QUAL=,89.80294034906208;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,81667468;RS_dbsnp_common_v150_hg19_refseq=,2229952;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,12;Read_coverage=,23;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9447430454748846;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_000722.3;Reverse_read_coverage=,15;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0276;SF=6,13;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.967649|0.0323511;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05012800030515043e000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.975;db_xref=,GeneID:781|HGNC:HGNC:1399|MIM:114204;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_000722.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,calcium_voltage-gated_channel_auxiliary_subunit_alpha2delta_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CACNA2D1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,CACNA2D1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CACNA2|CACNL2A|CCHL2A|LINC01112|lncRNA-N3;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,calcium_voltage-gated_channel_auxiliary_subunit_alpha2delta_1|_transcript_variant_1;transcript_id=,NM_000722.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CACNA2D1:NM_000722:exon11:c.G963A:p.A321A;cytoBand=7q21.11;genomicSuperDups=.;esp6500siv2_all=0.0326;esp6500siv2_ea=0.0448;esp6500siv2_all=0.0326;esp6500siv2_ea=0.0448;1000g2015aug_all=0.019369;avsnp147=rs2229952;Kaviar_AF=0.0372958;Kaviar_AC=5766;Kaviar_AN=154602;ExAC_ALL=0.0385;ExAC_AFR=0.0064;ExAC_AMR=0.0227;ExAC_EAS=0.0003;ExAC_FIN=0.0693;ExAC_NFE=0.0502;ExAC_OTH=0.0507;ExAC_SAS=0.0294;CLNALLELEID=252943;CLNDN=Brugada_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.8166;dpsi_zscore=-1.356;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0378;gnomAD_exome_AFR=0.0057;gnomAD_exome_AMR=0.0208;gnomAD_exome_ASJ=0.0528;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0.0680;gnomAD_exome_NFE=0.0474;gnomAD_exome_OTH=0.0453;gnomAD_exome_SAS=0.0308;gnomAD_genome_ALL=0.0443;gnomAD_genome_AFR=0.0083;gnomAD_genome_AMR=0.0251;gnomAD_genome_ASJ=0.0530;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0750;gnomAD_genome_NFE=0.0631;gnomAD_genome_OTH=0.0540;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . 1:23:0,12 . . . . . . 1:29:0,12 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 7 91630620 136347;rs6964587 G T 187.74 . #_unique_end_positions=,36;#_unique_start_positions=,33;AC=30;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5023;AF_ESP_clinvar_20171029_hg19=,0.4405;AF_EXAC_clinvar_20171029_hg19=,0.38290;AF_TGP_clinvar_20171029_hg19=,0.3722;ALLELEID_clinvar_20171029_hg19=,140050;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3573;AN=30;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_005742.4:p.Met463Ile|_NP_671714.1:p.Met463Ile;Amino_acid_change_in_longest_transcript=,NP_005742.4:p.Met463Ile;BaseQRankSum=,0.25;CAF_dbsnp_common_v150_hg19_refseq=,0.6278|0.3722;CLNDISDB_clinvar_20171029_hg19=,MeSH:D008133|MedGen:C0023976|SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN221574|MedGen:CN230736;CLNDN_clinvar_20171029_hg19=,Long_QT_syndrome|not_specified|Colorectal_cancer|Cardiovascular_phenotype;CLNHGVS_clinvar_20171029_hg19=,NC_000007.13:g.91630620G>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:42306;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_005751.4:c.1389G>T|_NM_147185.2:c.1389G>T;Coding_region_change_in_longest_transcript=,NM_005751.4:c.1389G>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1617;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3867;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,37;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,AKAP9:10142;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:10142;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:10142;Genotype=,T/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:379;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:379;Homo_sapiens_refseq_GRCh37.p13_Genes=,AKAP9;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_147185.2|NM_005751.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene16366;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna23382|rna23381;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:604001;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:604001;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene16366;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,91630620;RS_dbsnp_common_v150_hg19_refseq=,6964587;Read_count=,57;Read_coverage=,57;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_147185.2|NM_005751.4;Reverse_read_coverage=,20;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4090;SF=1,6,7,9,12,13,14,15,18,19,20,21,22,24,25,27,28,29,33,34,36,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.564324|0.435676;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050368000a0517053f100100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.55102;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.391667;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.121951;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.188235;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.414773;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.188889;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.177778;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.522472;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.367347;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.409091;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.413793;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.466667;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.116;db_xref=,GeneID:10142|HGNC:HGNC:379|MIM:604001;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:04921;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_147185.2|HPRD:04921|Genbank:NM_005751.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,A-kinase_anchoring_protein_9;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,AKAP9;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,AKAP9;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,AKAP-9|AKAP350|AKAP450|CG-NAP|HYPERION|LQT11|MU-RMS-40.16A|PPP1R45|PRKA9|YOTIAO;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,A-kinase_anchoring_protein_9|_transcript_variant_3|A-kinase_anchoring_protein_9|_transcript_variant_2;transcript_id=,NM_147185.2|NM_005751.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=AKAP9:NM_005751:exon8:c.G1389T:p.M463I,AKAP9:NM_147185:exon8:c.G1389T:p.M463I;cytoBand=7q21.2;genomicSuperDups=.;esp6500siv2_all=0.4405;esp6500siv2_ea=0.4030;esp6500siv2_all=0.4405;esp6500siv2_ea=0.4030;1000g2015aug_all=0.372204;avsnp147=rs6964587;Kaviar_AF=0.37713;Kaviar_AC=58305;Kaviar_AN=154602;ExAC_ALL=0.3829;ExAC_AFR=0.5114;ExAC_AMR=0.3056;ExAC_EAS=0.1745;ExAC_FIN=0.3857;ExAC_NFE=0.4004;ExAC_OTH=0.4;ExAC_SAS=0.3926;CLNALLELEID=140050;CLNDN=Long_QT_syndrome|Long_QT_syndrome_11|not_specified|Colorectal_cancer|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN169374|MedGen:CN221574|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.064;SIFT_pred=T;Polyphen2_HDIV_score=0.002;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.003;Polyphen2_HVAR_pred=B;LRT_score=0.166;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=3.93;FATHMM_pred=T;PROVEAN_score=-0.69;PROVEAN_pred=N;VEST3_score=0.044;CADD_raw=-0.375;CADD_phred=0.443;DANN_score=0.371;fathmm-MKL_coding_score=0.024;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.965;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=-3.46;phyloP7way_vertebrate=-0.420;phyloP20way_mammalian=-1.629;phastCons7way_vertebrate=0.781;phastCons20way_mammalian=0.045;SiPhy_29way_logOdds=13.89;GDI_full_10282015=.;dpsi_max_tissue=-0.0181;dpsi_zscore=-0.092;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM064968#"Colorectal_cancer_increased_risk_association_with";gnomAD_exome_ALL=0.3782;gnomAD_exome_AFR=0.5143;gnomAD_exome_AMR=0.3094;gnomAD_exome_ASJ=0.5469;gnomAD_exome_EAS=0.1710;gnomAD_exome_FIN=0.3913;gnomAD_exome_NFE=0.3908;gnomAD_exome_OTH=0.3869;gnomAD_exome_SAS=0.3910;gnomAD_genome_ALL=0.4037;gnomAD_genome_AFR=0.5064;gnomAD_genome_AMR=0.3213;gnomAD_genome_ASJ=0.5331;gnomAD_genome_EAS=0.1745;gnomAD_genome_FIN=0.3738;gnomAD_genome_NFE=0.3782;gnomAD_genome_OTH=0.3937;Whole_Blood=Whole_Blood::0.394521::-0.109678;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . 1/1:52:0,52 . . . . 1:32:0,13 1:63:0,38 . 1/1:55:0,55 . . 1:56:0,25 1:63:0,33 1:77:0,44 1:73:0,40 . . 1:82:0,34 1/1:59:0,59 1/1:83:0,83 1/1:71:0,71 1:50:0,27 . 1/1:77:0,77 1:51:0,25 . 1:84:0,38 1:108:0,47 1:62:0,21 . . . 1:59:0,32 1:92:0,48 . 1:65:0,32 . . 1:70:0,35 1:76:0,39 1:69:0,33 7 91631873 . G T 35.28 . #_unique_end_positions=,7;#_unique_start_positions=,6;AC=1;AN=1;Amino_acid_change=,NP_005742.4:p.Ser881Ile|_NP_671714.1:p.Ser881Ile;Amino_acid_change_in_longest_transcript=,NP_005742.4:p.Ser881Ile;BaseQRankSum=,0.0;Coding_region_change=,NM_005751.4:c.2642G>T|_NM_147185.2:c.2642G>T;Coding_region_change_in_longest_transcript=,NM_005751.4:c.2642G>T;Forward_read_coverage=,6;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:10142;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:10142;Genotype=,G/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:379;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:379;Homo_sapiens_refseq_GRCh37.p13_Genes=,AKAP9;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_147185.2|NM_005751.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene16366;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna23382|rna23381;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:604001;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:604001;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene16366;QUAL=,35.27848481581435;Read_count=,7;Read_coverage=,23;Read_direction_test_probability=,0.805041753055731;Read_position_test_probability=,0.6394623196668243;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_147185.2|NM_005751.4;Reverse_read_coverage=,17;SF=7;conservation_score=,0.909;db_xref=,GeneID:10142|HGNC:HGNC:379|MIM:604001;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:04921;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_147185.2|HPRD:04921|Genbank:NM_005751.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,A-kinase_anchoring_protein_9;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,AKAP9;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,AKAP9;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,AKAP-9|AKAP350|AKAP450|CG-NAP|HYPERION|LQT11|MU-RMS-40.16A|PPP1R45|PRKA9|YOTIAO;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,A-kinase_anchoring_protein_9|_transcript_variant_3|A-kinase_anchoring_protein_9|_transcript_variant_2;transcript_id=,NM_147185.2|NM_005751.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=AKAP9:NM_005751:exon8:c.G2642T:p.S881I,AKAP9:NM_147185:exon8:c.G2642T:p.S881I;cytoBand=7q21.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.003;SIFT_pred=D;Polyphen2_HDIV_score=0.946;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.603;Polyphen2_HVAR_pred=P;LRT_score=0.100;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=N;MutationAssessor_score=1.7;MutationAssessor_pred=L;FATHMM_score=3.89;FATHMM_pred=T;PROVEAN_score=-1.79;PROVEAN_pred=N;VEST3_score=0.293;CADD_raw=3.047;CADD_phred=22.4;DANN_score=0.943;fathmm-MKL_coding_score=0.953;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.052;MetaSVM_pred=T;MetaLR_score=0.019;MetaLR_pred=T;integrated_fitCons_score=0.732;integrated_confidence_value=0;GERP++_RS=4.68;phyloP7way_vertebrate=-0.030;phyloP20way_mammalian=0.079;phastCons7way_vertebrate=0.210;phastCons20way_mammalian=0.963;SiPhy_29way_logOdds=10.356;GDI_full_10282015=.;dpsi_max_tissue=0.0009;dpsi_zscore=0.016;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . 1:23:0,7 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 7 91632306 136349;rs1989779 C T 171.59 . #_unique_end_positions=,45;#_unique_start_positions=,36;AC=71;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9894;ALLELEID_clinvar_20171029_hg19=,140052;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9409;AN=71;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.22;CAF_dbsnp_common_v150_hg19_refseq=,0.0641|0.9359;CLNDISDB_clinvar_20171029_hg19=,MeSH:D008133|MedGen:C0023976|SNOMED_CT:9651007|MedGen:CN119492|SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736;CLNDN_clinvar_20171029_hg19=,Long_QT_syndrome|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype;CLNHGVS_clinvar_20171029_hg19=,NC_000007.13:g.91632306C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:42313;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_005751.4:c.3075C>T|_NM_147185.2:c.3075C>T;Coding_region_change_in_longest_transcript=,NM_005751.4:c.3075C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9673;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.8787;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,46;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,AKAP9:10142;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:10142;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:10142;Genotype=,T/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:379;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:379;Homo_sapiens_refseq_GRCh37.p13_Genes=,AKAP9;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_147185.2|NM_005751.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene16366;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna23382|rna23381;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:604001;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:604001;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene16366;QUAL=,156.53559774527022;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,91632306;RS_dbsnp_common_v150_hg19_refseq=,1989779;Read_count=,60;Read_coverage=,61;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_147185.2|NM_005751.4;Reverse_read_coverage=,15;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.8865;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.0913524|0.908648;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05036800030515053f100100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.979592;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.85;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.97561;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.964706;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.8125;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,1;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.988889;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.988889;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.97;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.965035;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.886364;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,1;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.0;db_xref=,GeneID:10142|HGNC:HGNC:379|MIM:604001;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:04921;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_147185.2|HPRD:04921|Genbank:NM_005751.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,A-kinase_anchoring_protein_9;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,AKAP9;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,AKAP9;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,AKAP-9|AKAP350|AKAP450|CG-NAP|HYPERION|LQT11|MU-RMS-40.16A|PPP1R45|PRKA9|YOTIAO;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,A-kinase_anchoring_protein_9|_transcript_variant_3|A-kinase_anchoring_protein_9|_transcript_variant_2;transcript_id=,NM_147185.2|NM_005751.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=AKAP9:NM_005751:exon8:c.C3075T:p.T1025T,AKAP9:NM_147185:exon8:c.C3075T:p.T1025T;cytoBand=7q21.2;genomicSuperDups=.;esp6500siv2_all=0.9064;esp6500siv2_ea=0.8727;esp6500siv2_all=0.9064;esp6500siv2_ea=0.8727;1000g2015aug_all=0.935903;avsnp147=rs1989779;Kaviar_AF=0.881858;Kaviar_AC=136337;Kaviar_AN=154602;ExAC_ALL=0.8924;ExAC_AFR=0.9750;ExAC_AMR=0.9440;ExAC_EAS=0.9757;ExAC_FIN=0.8467;ExAC_NFE=0.8650;ExAC_OTH=0.8921;ExAC_SAS=0.8897;CLNALLELEID=140052;CLNDN=Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0099;dpsi_zscore=0.068;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.8925;gnomAD_exome_AFR=0.9763;gnomAD_exome_AMR=0.9423;gnomAD_exome_ASJ=0.8845;gnomAD_exome_EAS=0.9740;gnomAD_exome_FIN=0.8465;gnomAD_exome_NFE=0.8638;gnomAD_exome_OTH=0.8776;gnomAD_exome_SAS=0.8936;gnomAD_genome_ALL=0.8912;gnomAD_genome_AFR=0.9731;gnomAD_genome_AMR=0.9284;gnomAD_genome_ASJ=0.8676;gnomAD_genome_EAS=0.9728;gnomAD_genome_FIN=0.8373;gnomAD_genome_NFE=0.8471;gnomAD_genome_OTH=0.8678;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1/1:59:0,58 1/1:57:0,57 1/1:52:0,52 1/1:63:0,63 1/1:39:0,39 1/1:32:0,32 1/1:38:0,38 1/1:38:0,38 1:75:0,33 1/1:62:0,62 1:68:0,25 1/1:46:0,46 1/1:54:0,54 1/1:62:0,62 1/1:77:0,77 1:50:0,28 . 1/1:65:0,65 1/1:46:0,46 1/1:54:0,54 1/1:87:0,87 1/1:67:0,67 1:49:0,23 1:62:0,25 1/1:55:0,55 1/1:47:0,47 1/1:74:0,74 1/1:74:0,74 1:71:0,30 1/1:57:0,57 1/1:69:0,69 1/1:39:0,39 1/1:46:0,46 1/1:47:0,47 1:64:0,30 1:61:0,32 1:45:0,16 1/1:47:0,47 1:59:0,27 1:56:0,15 1/1:61:0,61 1/1:56:0,56 7 91632519 . G A 136.58 . #_unique_end_positions=,14;#_unique_start_positions=,13;AC=1;AN=1;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.26;Coding_region_change=,NM_005751.4:c.3288G>A|_NM_147185.2:c.3288G>A;Coding_region_change_in_longest_transcript=,NM_005751.4:c.3288G>A;Forward_read_coverage=,5;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:10142;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:10142;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:379;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:379;Homo_sapiens_refseq_GRCh37.p13_Genes=,AKAP9;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_147185.2|NM_005751.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene16366;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna23382|rna23381;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:604001;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:604001;Non-synonymous=,No;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene16366;QUAL=,136.57924579929474;Read_count=,20;Read_coverage=,40;Read_direction_test_probability=,0.992114587607948;Read_position_test_probability=,0.7952585686204411;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_147185.2|NM_005751.4;Reverse_read_coverage=,35;SF=33;conservation_score=,0.969;db_xref=,GeneID:10142|HGNC:HGNC:379|MIM:604001;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:04921;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_147185.2|HPRD:04921|Genbank:NM_005751.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,A-kinase_anchoring_protein_9;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,AKAP9;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,AKAP9;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,AKAP-9|AKAP350|AKAP450|CG-NAP|HYPERION|LQT11|MU-RMS-40.16A|PPP1R45|PRKA9|YOTIAO;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,A-kinase_anchoring_protein_9|_transcript_variant_3|A-kinase_anchoring_protein_9|_transcript_variant_2;transcript_id=,NM_147185.2|NM_005751.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=AKAP9:NM_005751:exon8:c.G3288A:p.Q1096Q,AKAP9:NM_147185:exon8:c.G3288A:p.Q1096Q;cytoBand=7q21.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0063;dpsi_zscore=0.043;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.136e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=4.529e-05;gnomAD_exome_NFE=0;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:38:0,18 . . . . . . . . 7 91641928 136350;rs13245393 A G 127.71 . #_unique_end_positions=,31;#_unique_start_positions=,28;AC=29;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5076;AF_ESP_clinvar_20171029_hg19=,0.4418;AF_EXAC_clinvar_20171029_hg19=,0.38378;AF_TGP_clinvar_20171029_hg19=,0.3738;ALLELEID_clinvar_20171029_hg19=,140053;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3573;AN=29;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.6262|0.3738;CLNDISDB_clinvar_20171029_hg19=,MeSH:D008133|MedGen:C0023976|SNOMED_CT:9651007|MedGen:CN119492|SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736;CLNDN_clinvar_20171029_hg19=,Long_QT_syndrome|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype;CLNHGVS_clinvar_20171029_hg19=,NC_000007.13:g.91641928A>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:42321;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_005751.4:c.3504A>G|_NM_147185.2:c.3504A>G;Coding_region_change_in_longest_transcript=,NM_005751.4:c.3504A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1617;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3867;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,5;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,AKAP9:10142;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:10142;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:10142;Genotype=,G/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:379;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:379;Homo_sapiens_refseq_GRCh37.p13_Genes=,AKAP9;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_147185.2|NM_005751.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene16366;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna23382|rna23381;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:604001;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:604001;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene16366;QUAL=,148.40646417884165;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,91641928;RS_dbsnp_common_v150_hg19_refseq=,13245393;Read_count=,40;Read_coverage=,40;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_147185.2|NM_005751.4;Reverse_read_coverage=,35;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4100;SF=1,6,7,9,12,13,14,15,18,19,20,21,22,24,25,27,28,29,33,34,36,39,40;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.562023|0.437977;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05036800030517053f100100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.561224;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.384956;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.121951;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.188235;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.414773;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.197674;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.158824;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.533333;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.416084;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.420455;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.517699;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.993;db_xref=,GeneID:10142|HGNC:HGNC:379|MIM:604001;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:04921;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_147185.2|HPRD:04921|Genbank:NM_005751.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,A-kinase_anchoring_protein_9;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,AKAP9;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,AKAP9;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,AKAP-9|AKAP350|AKAP450|CG-NAP|HYPERION|LQT11|MU-RMS-40.16A|PPP1R45|PRKA9|YOTIAO;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,A-kinase_anchoring_protein_9|_transcript_variant_3|A-kinase_anchoring_protein_9|_transcript_variant_2;transcript_id=,NM_147185.2|NM_005751.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=AKAP9:NM_005751:exon9:c.A3504G:p.E1168E,AKAP9:NM_147185:exon9:c.A3504G:p.E1168E;cytoBand=7q21.2;genomicSuperDups=.;esp6500siv2_all=0.4418;esp6500siv2_ea=0.4031;esp6500siv2_all=0.4418;esp6500siv2_ea=0.4031;1000g2015aug_all=0.373802;avsnp147=rs13245393;Kaviar_AF=0.378158;Kaviar_AC=58464;Kaviar_AN=154602;ExAC_ALL=0.3838;ExAC_AFR=0.5173;ExAC_AMR=0.3059;ExAC_EAS=0.1753;ExAC_FIN=0.3857;ExAC_NFE=0.4006;ExAC_OTH=0.4007;ExAC_SAS=0.3937;CLNALLELEID=140053;CLNDN=Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1574;dpsi_zscore=-0.598;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3788;gnomAD_exome_AFR=0.5202;gnomAD_exome_AMR=0.3097;gnomAD_exome_ASJ=0.5474;gnomAD_exome_EAS=0.1715;gnomAD_exome_FIN=0.3913;gnomAD_exome_NFE=0.3908;gnomAD_exome_OTH=0.3875;gnomAD_exome_SAS=0.3922;gnomAD_genome_ALL=0.4048;gnomAD_genome_AFR=0.5113;gnomAD_genome_AMR=0.3198;gnomAD_genome_ASJ=0.53;gnomAD_genome_EAS=0.1749;gnomAD_genome_FIN=0.3733;gnomAD_genome_NFE=0.3779;gnomAD_genome_OTH=0.3945;Whole_Blood=Whole_Blood::0.394309::-0.110497;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . 1/1:40:0,40 . . . . 1:32:0,16 1:37:0,21 . 1/1:37:0,37 . . 1:41:0,19 1:47:0,28 1:33:0,12 1:37:0,18 . . 1:38:0,21 1/1:34:0,34 1/1:47:0,46 1/1:39:0,39 1:27:0,15 . 1/1:55:0,55 1:35:0,15 . 1:58:0,33 1:58:0,19 1:48:0,28 . . . 1:27:0,16 1:49:0,21 . 1:53:0,23 . . 1:39:0,15 1:53:0,18 . 7 91652178 190508;rs10644111 A AC,AAAC 186.90 . #_unique_end_positions=,12;#_unique_start_positions=,11;AC=1,19;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6657;ALLELEID_clinvar_20171029_hg19=,188441;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3689;AN=20;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_671714.1:p.Lys1335_Leu1336insGln|_NP_005742.4:p.Lys1335_Leu1336insGln;Amino_acid_change_in_longest_transcript=,NP_005742.4:p.Lys1335_Leu1336insGln;BaseQRankSum=,0.21;CAF_dbsnp_common_v150_hg19_refseq=,0.5753|0.4247|.;CLNDISDB_clinvar_20171029_hg19=,MeSH:D008133|MedGen:C0023976|SNOMED_CT:9651007|MedGen:CN119492|SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736;CLNDN_clinvar_20171029_hg19=,Long_QT_syndrome|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype;CLNHGVS_clinvar_20171029_hg19=,NC_000007.13:g.91652179_91652181dupAAC;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:1000035;CLNVC_clinvar_20171029_hg19=,Duplication;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:499620;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_005751.4:c.4004_4006dup|_NM_147185.2:c.4004_4006dup;Coding_region_change_in_longest_transcript=,NM_005751.4:c.4004_4006dup;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1825;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3867;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,10;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,AKAP9:10142;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:10142;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:10142;Genotype=,AAC/AAC;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:379;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:379;Homo_sapiens_refseq_GRCh37.p13_Genes=,AKAP9;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_147185.2|NM_005751.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene16366;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna23382|rna23381;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:604001;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:604001;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene16366;QUAL=,200.0;RSPOS_dbsnp_common_v150_hg19_refseq=,91652178;RS_dbsnp_common_v150_hg19_refseq=,10644111;Read_count=,14;Read_coverage=,14;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_147185.2|NM_005751.4;Reverse_read_coverage=,4;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4274;SF=9,12,13,14,18,19,20,21,24,27,28,29,34,39,40;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;Start_by_3'_rule=,91652181;VC_dbsnp_common_v150_hg19_refseq=,DIV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05012800000517013e000200;WGT_dbsnp_common_v150_hg19_refseq=,1;db_xref=,GeneID:10142|HGNC:HGNC:379|MIM:604001;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:04921;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_147185.2|HPRD:04921|Genbank:NM_005751.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,A-kinase_anchoring_protein_9;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,AKAP9;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,AKAP9;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,AKAP-9|AKAP350|AKAP450|CG-NAP|HYPERION|LQT11|MU-RMS-40.16A|PPP1R45|PRKA9|YOTIAO;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,A-kinase_anchoring_protein_9|_transcript_variant_3|A-kinase_anchoring_protein_9|_transcript_variant_2;transcript_id=,NM_147185.2|NM_005751.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_insertion;AAChange.refGene=AKAP9:NM_005751:exon14:c.4003_4004insC:p.K1335fs,AKAP9:NM_147185:exon14:c.4003_4004insC:p.K1335fs;cytoBand=7q21.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=nonframeshift_insertion;AAChange.refGene=AKAP9:NM_005751:exon14:c.4003_4004insAAC:p.K1335delinsKQ,AKAP9:NM_147185:exon14:c.4003_4004insAAC:p.K1335delinsKQ;cytoBand=7q21.2;genomicSuperDups=.;esp6500siv2_all=0.4791;esp6500siv2_ea=0.4031;esp6500siv2_all=0.4791;esp6500siv2_ea=0.4031;1000g2015aug_all=0.42472;avsnp147=rs10644111;Kaviar_AF=0.0116816;Kaviar_AC=1806;Kaviar_AN=154602;ExAC_ALL=0.3989;ExAC_AFR=0.6324;ExAC_AMR=0.3095;ExAC_EAS=0.2018;ExAC_FIN=0.3847;ExAC_NFE=0.4010;ExAC_OTH=0.4072;ExAC_SAS=0.4114;CLNALLELEID=188441;CLNDN=Long_QT_syndrome|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3897;gnomAD_exome_AFR=0.6396;gnomAD_exome_AMR=0.3138;gnomAD_exome_ASJ=0.5474;gnomAD_exome_EAS=0.1935;gnomAD_exome_FIN=0.3903;gnomAD_exome_NFE=0.3893;gnomAD_exome_OTH=0.3932;gnomAD_exome_SAS=0.4077;gnomAD_genome_ALL=0.4374;gnomAD_genome_AFR=0.6258;gnomAD_genome_AMR=0.3266;gnomAD_genome_ASJ=0.5298;gnomAD_genome_EAS=0.1984;gnomAD_genome_FIN=0.3726;gnomAD_genome_NFE=0.3761;gnomAD_genome_OTH=0.3957;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . 2/2:13:0,13 . . 1:12:0,2 2:12:0,5 2:15:0,6 . . . 2:19:0,5 2/2:13:0,13 2/2:18:0,17 2/2:19:0,19 . . 2/2:12:0,12 . . 2:26:0,6 2:20:0,10 2:19:0,8 . . . . 2:13:0,3 . . . . 2:19:0,7 2:29:0,10 . 7 91682040 180263;rs151021935 T G 65.10 . #_unique_end_positions=,9;#_unique_start_positions=,8;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0008;AF_EXAC_clinvar_20171029_hg19=,0.00094;AF_TGP_clinvar_20171029_hg19=,0.0008;ALLELEID_clinvar_20171029_hg19=,178589;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_005742.4:p.Val1790Gly|_NP_671714.1:p.Val1790Gly;Amino_acid_change_in_longest_transcript=,NP_005742.4:p.Val1790Gly;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.9992|0.0007987;CLNDISDB_clinvar_20171029_hg19=,EFO:EFO_0004278|MeSH:D016757|MedGen:C0085298|SNOMED_CT:95281009|MeSH:D008133|MedGen:C0023976|SNOMED_CT:9651007|MedGen:CN119492|SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN517202;CLNDN_clinvar_20171029_hg19=,Sudden_cardiac_death|Long_QT_syndrome|Romano-Ward_syndrome|not_specified|not_provided;CLNHGVS_clinvar_20171029_hg19=,NC_000007.13:g.91682040T>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_conflicting_interpretations;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:203901;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_005751.4:c.5369T>G|_NM_147185.2:c.5369T>G;Coding_region_change_in_longest_transcript=,NM_005751.4:c.5369T>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,15;GENEINFO_dbsnp_common_v150_hg19_refseq=,AKAP9:10142;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:10142;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:10142;Genotype=,G/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:379;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:379;Homo_sapiens_refseq_GRCh37.p13_Genes=,AKAP9;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_147185.2|NM_005751.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene16366;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna23382|rna23381;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:604001;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:604001;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene16366;QUAL=,65.10262547723003;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,91682040;RS_dbsnp_common_v150_hg19_refseq=,151021935;Read_count=,9;Read_coverage=,18;Read_direction_test_probability=,0.9664104228105922;Read_position_test_probability=,0.8127509224023616;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_147185.2|NM_005751.4;Reverse_read_coverage=,3;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0041;SF=19;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.999004|0.000995948;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050168000a05040426100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.796;db_xref=,GeneID:10142|HGNC:HGNC:379|MIM:604001;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:04921;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_147185.2|HPRD:04921|Genbank:NM_005751.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,A-kinase_anchoring_protein_9;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,AKAP9;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,AKAP9;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,AKAP-9|AKAP350|AKAP450|CG-NAP|HYPERION|LQT11|MU-RMS-40.16A|PPP1R45|PRKA9|YOTIAO;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,A-kinase_anchoring_protein_9|_transcript_variant_3|A-kinase_anchoring_protein_9|_transcript_variant_2;transcript_id=,NM_147185.2|NM_005751.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=AKAP9:NM_005751:exon22:c.T5369G:p.V1790G,AKAP9:NM_147185:exon22:c.T5369G:p.V1790G;cytoBand=7q21.2;genomicSuperDups=.;esp6500siv2_all=0.0008;esp6500siv2_ea=0.0009;esp6500siv2_all=0.0008;esp6500siv2_ea=0.0009;1000g2015aug_all=0.000798722;avsnp147=rs151021935;Kaviar_AF=0.0008732;Kaviar_AC=135;Kaviar_AN=154602;ExAC_ALL=0.0009;ExAC_AFR=0.0002;ExAC_AMR=0.0017;ExAC_EAS=0;ExAC_FIN=0.0008;ExAC_NFE=0.0011;ExAC_OTH=0.0012;ExAC_SAS=0.0009;CLNALLELEID=178589;CLNDN=Sudden_cardiac_death|Long_QT_syndrome|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=EFO:EFO_0004278,MeSH:D016757,MedGen:C0085298,SNOMED_CT:95281009|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.476;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.284;LRT_pred=N;MutationTaster_score=0.998;MutationTaster_pred=D;MutationAssessor_score=0.755;MutationAssessor_pred=N;FATHMM_score=3.84;FATHMM_pred=T;PROVEAN_score=-0.19;PROVEAN_pred=N;VEST3_score=0.419;CADD_raw=0.241;CADD_phred=5.110;DANN_score=0.752;fathmm-MKL_coding_score=0.711;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.905;MetaSVM_pred=T;MetaLR_score=0.007;MetaLR_pred=T;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=2.48;phyloP7way_vertebrate=-0.172;phyloP20way_mammalian=-0.425;phastCons7way_vertebrate=0.927;phastCons20way_mammalian=0.572;SiPhy_29way_logOdds=1.829;GDI_full_10282015=.;dpsi_max_tissue=0.2939;dpsi_zscore=0.882;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0009;gnomAD_exome_AFR=6.553e-05;gnomAD_exome_AMR=0.0014;gnomAD_exome_ASJ=0.0040;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0002;gnomAD_exome_NFE=0.0008;gnomAD_exome_OTH=0.0037;gnomAD_exome_SAS=0.0007;gnomAD_genome_ALL=0.0006;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0011;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . 1:17:0,9 . . . . . . . . . . . . . . . . . . . . . . 7 91691601 136333;rs10236397 C T 119.54 . #_unique_end_positions=,25;#_unique_start_positions=,24;AC=28;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4561;AF_ESP_clinvar_20171029_hg19=,0.4277;AF_EXAC_clinvar_20171029_hg19=,0.37946;AF_TGP_clinvar_20171029_hg19=,0.3598;ALLELEID_clinvar_20171029_hg19=,140036;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3559;AN=28;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.71;CAF_dbsnp_common_v150_hg19_refseq=,0.6402|0.3598;CLNDISDB_clinvar_20171029_hg19=,MeSH:D008133|MedGen:C0023976|SNOMED_CT:9651007|MedGen:CN119492|SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736;CLNDN_clinvar_20171029_hg19=,Long_QT_syndrome|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype;CLNHGVS_clinvar_20171029_hg19=,NC_000007.13:g.91691601C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:42332;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_005751.4:c.5778C>T|_NM_147185.2:c.5778C>T;Coding_region_change_in_longest_transcript=,NM_005751.4:c.5778C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1617;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3857;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,23;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,AKAP9:10142;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:10142;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:10142;Genotype=,T/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:379;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:379;Homo_sapiens_refseq_GRCh37.p13_Genes=,AKAP9;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_147185.2|NM_005751.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene16366;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna23382|rna23381;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:604001;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:604001;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene16366;QUAL=,125.40117820561701;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,91691601;RS_dbsnp_common_v150_hg19_refseq=,10236397;Read_count=,32;Read_coverage=,32;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_147185.2|NM_005751.4;Reverse_read_coverage=,9;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4100;SF=1,6,7,9,13,14,18,19,20,21,22,24,25,27,28,29,33,34,36,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.584312|0.415688;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05016800030517053f100100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.5;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.384956;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.121951;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.188235;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.41954;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.209302;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.166667;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.516667;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.36;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.381119;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.413793;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.464602;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.986;db_xref=,GeneID:10142|HGNC:HGNC:379|MIM:604001;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:04921;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_147185.2|HPRD:04921|Genbank:NM_005751.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,A-kinase_anchoring_protein_9;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,AKAP9;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,AKAP9;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,AKAP-9|AKAP350|AKAP450|CG-NAP|HYPERION|LQT11|MU-RMS-40.16A|PPP1R45|PRKA9|YOTIAO;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,A-kinase_anchoring_protein_9|_transcript_variant_3|A-kinase_anchoring_protein_9|_transcript_variant_2;transcript_id=,NM_147185.2|NM_005751.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=AKAP9:NM_005751:exon24:c.C5778T:p.G1926G,AKAP9:NM_147185:exon24:c.C5778T:p.G1926G;cytoBand=7q21.2;genomicSuperDups=.;esp6500siv2_all=0.4277;esp6500siv2_ea=0.4031;esp6500siv2_all=0.4277;esp6500siv2_ea=0.4031;1000g2015aug_all=0.359824;avsnp147=rs10236397;Kaviar_AF=0.3694;Kaviar_AC=57110;Kaviar_AN=154602;ExAC_ALL=0.3795;ExAC_AFR=0.4739;ExAC_AMR=0.3041;ExAC_EAS=0.1746;ExAC_FIN=0.3859;ExAC_NFE=0.4002;ExAC_OTH=0.4015;ExAC_SAS=0.3933;CLNALLELEID=140036;CLNDN=Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.2125;dpsi_zscore=-0.711;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3753;gnomAD_exome_AFR=0.4719;gnomAD_exome_AMR=0.3079;gnomAD_exome_ASJ=0.5473;gnomAD_exome_EAS=0.1715;gnomAD_exome_FIN=0.3910;gnomAD_exome_NFE=0.3906;gnomAD_exome_OTH=0.3859;gnomAD_exome_SAS=0.3916;gnomAD_genome_ALL=0.3895;gnomAD_genome_AFR=0.4581;gnomAD_genome_AMR=0.3169;gnomAD_genome_ASJ=0.5331;gnomAD_genome_EAS=0.1741;gnomAD_genome_FIN=0.3737;gnomAD_genome_NFE=0.3776;gnomAD_genome_OTH=0.3904;Whole_Blood=Whole_Blood::0.383152::-0.107585;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . 1/1:32:0,32 . . . . 1:15:0,6 1:24:0,9 . 1/1:20:0,20 . . . 1:41:0,24 1:49:0,23 . . . 1:47:0,20 1/1:30:0,30 1/1:53:0,53 1/1:25:0,25 1:35:0,15 . 1/1:39:0,39 1:24:0,10 . 1:49:0,23 1:49:0,16 1:33:0,13 . . . 1:18:0,9 1:41:0,14 . 1:53:0,27 . . 1:23:0,11 1:48:0,23 1:28:0,15 7 91694743 191519;rs73226383 A G 93.59 . #_unique_end_positions=,15;#_unique_start_positions=,13;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0005;AF_EXAC_clinvar_20171029_hg19=,0.00056;AF_TGP_clinvar_20171029_hg19=,0.0002;ALLELEID_clinvar_20171029_hg19=,189286;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AN=1;Amino_acid_change=,NP_005742.4:p.Glu2059Gly|_NP_671714.1:p.Glu2059Gly;Amino_acid_change_in_longest_transcript=,NP_005742.4:p.Glu2059Gly;BaseQRankSum=,-0.35;CLNDISDB_clinvar_20171029_hg19=,MeSH:D008133|MedGen:C0023976|SNOMED_CT:9651007|MedGen:CN119492|SNOMED_CT:20852007|MedGen:CN230736|MedGen:CN517202;CLNDN_clinvar_20171029_hg19=,Long_QT_syndrome|Romano-Ward_syndrome|Cardiovascular_phenotype|not_provided;CLNHGVS_clinvar_20171029_hg19=,NC_000007.13:g.91694743A>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_conflicting_interpretations;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:247572;Coding_region_change=,NM_005751.4:c.6176A>G|_NM_147185.2:c.6176A>G;Coding_region_change_in_longest_transcript=,NM_005751.4:c.6176A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;Exact_match=,clinvar_20171029_hg19|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,21;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:10142;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:10142;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:379;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:379;Homo_sapiens_refseq_GRCh37.p13_Genes=,AKAP9;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_147185.2|NM_005751.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene16366;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna23382|rna23381;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:604001;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:604001;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene16366;QUAL=,93.59174021549543;Read_count=,16;Read_coverage=,44;Read_direction_test_probability=,0.9204139005740025;Read_position_test_probability=,0.9641803297209429;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_147185.2|NM_005751.4;Reverse_read_coverage=,23;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=20;conservation_score=,1.0;db_xref=,GeneID:10142|HGNC:HGNC:379|MIM:604001;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:04921;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_147185.2|HPRD:04921|Genbank:NM_005751.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,A-kinase_anchoring_protein_9;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,AKAP9;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,AKAP9;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,AKAP-9|AKAP350|AKAP450|CG-NAP|HYPERION|LQT11|MU-RMS-40.16A|PPP1R45|PRKA9|YOTIAO;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,A-kinase_anchoring_protein_9|_transcript_variant_3|A-kinase_anchoring_protein_9|_transcript_variant_2;transcript_id=,NM_147185.2|NM_005751.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=AKAP9:NM_005751:exon25:c.A6176G:p.E2059G,AKAP9:NM_147185:exon25:c.A6176G:p.E2059G;cytoBand=7q21.2;genomicSuperDups=.;esp6500siv2_all=0.0005;esp6500siv2_ea=0.0008;esp6500siv2_all=0.0005;esp6500siv2_ea=0.0008;1000g2015aug_all=0.000199681;avsnp147=rs73226383;Kaviar_AF=0.000608;Kaviar_AC=94;Kaviar_AN=154602;ExAC_ALL=0.0006;ExAC_AFR=0.0003;ExAC_AMR=8.911e-05;ExAC_EAS=0;ExAC_FIN=0.0002;ExAC_NFE=0.0009;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=189286;CLNDN=Long_QT_syndrome|Romano-Ward_syndrome|Cardiovascular_phenotype|not_provided;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.001;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_pred=D;LRT_score=0.001;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=2.295;MutationAssessor_pred=M;FATHMM_score=3.35;FATHMM_pred=T;PROVEAN_score=-5.52;PROVEAN_pred=D;VEST3_score=0.613;CADD_raw=6.436;CADD_phred=29.8;DANN_score=0.998;fathmm-MKL_coding_score=0.975;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.163;MetaSVM_pred=T;MetaLR_score=0.064;MetaLR_pred=T;integrated_fitCons_score=0.732;integrated_confidence_value=0;GERP++_RS=5.62;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.199;phastCons7way_vertebrate=0.988;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=16.118;GDI_full_10282015=.;dpsi_max_tissue=-0.0696;dpsi_zscore=-0.346;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM1515196#"Sudden_cardiac_death";gnomAD_exome_ALL=0.0006;gnomAD_exome_AFR=0.0003;gnomAD_exome_AMR=0.0002;gnomAD_exome_ASJ=0.0001;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0002;gnomAD_exome_NFE=0.0011;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0006;gnomAD_genome_AFR=0.0003;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0011;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . 1:40:0,15 . . . . . . . . . . . . . . . . . . . . . 7 91695779 215513 C T 146.54 . #_unique_end_positions=,19;#_unique_start_positions=,18;AC=1;AF_ESP_clinvar_20171029_hg19=,0.0015;AF_EXAC_clinvar_20171029_hg19=,0.00089;ALLELEID_clinvar_20171029_hg19=,212621;AN=1;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.65;CLNDISDB_clinvar_20171029_hg19=,MeSH:D008133|MedGen:C0023976|SNOMED_CT:9651007|MedGen:CN119492|SNOMED_CT:20852007|MedGen:CN230736;CLNDN_clinvar_20171029_hg19=,Long_QT_syndrome|Romano-Ward_syndrome|Cardiovascular_phenotype;CLNHGVS_clinvar_20171029_hg19=,NC_000007.13:g.91695779C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_conflicting_interpretations;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:174818;Coding_region_change=,NM_005751.4:c.6249C>T|_NM_147185.2:c.6249C>T;Coding_region_change_in_longest_transcript=,NM_005751.4:c.6249C>T;Exact_match=,clinvar_20171029_hg19;Forward_read_coverage=,36;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:10142;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:10142;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:379;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:379;Homo_sapiens_refseq_GRCh37.p13_Genes=,AKAP9;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_147185.2|NM_005751.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene16366;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna23382|rna23381;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:604001;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:604001;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene16366;QUAL=,146.53559774527022;Read_count=,23;Read_coverage=,50;Read_direction_test_probability=,0.9997898275290747;Read_position_test_probability=,0.9802791885099484;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_147185.2|NM_005751.4;Reverse_read_coverage=,14;SF=41;conservation_score=,1.0;db_xref=,GeneID:10142|HGNC:HGNC:379|MIM:604001;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:04921;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_147185.2|HPRD:04921|Genbank:NM_005751.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,A-kinase_anchoring_protein_9;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,AKAP9;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,AKAP9;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,AKAP-9|AKAP350|AKAP450|CG-NAP|HYPERION|LQT11|MU-RMS-40.16A|PPP1R45|PRKA9|YOTIAO;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,A-kinase_anchoring_protein_9|_transcript_variant_3|A-kinase_anchoring_protein_9|_transcript_variant_2;transcript_id=,NM_147185.2|NM_005751.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=AKAP9:NM_005751:exon26:c.C6249T:p.F2083F,AKAP9:NM_147185:exon26:c.C6249T:p.F2083F;cytoBand=7q21.2;genomicSuperDups=.;esp6500siv2_all=0.0015;esp6500siv2_ea=0.0022;esp6500siv2_all=0.0015;esp6500siv2_ea=0.0022;1000g2015aug_all=.;avsnp147=rs139770404;Kaviar_AF=0.0008926;Kaviar_AC=138;Kaviar_AN=154602;ExAC_ALL=0.0009;ExAC_AFR=9.671e-05;ExAC_AMR=0.0008;ExAC_EAS=0;ExAC_FIN=0.0003;ExAC_NFE=0.0014;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=212621;CLNDN=Long_QT_syndrome|Romano-Ward_syndrome|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN230736;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1904;dpsi_zscore=-0.668;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0010;gnomAD_exome_AFR=0.0001;gnomAD_exome_AMR=0.0008;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0003;gnomAD_exome_NFE=0.0018;gnomAD_exome_OTH=0.0011;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0010;gnomAD_genome_AFR=0.0006;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0016;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:48:0,21 7 91708898 136338;rs35759833 A G 191.75 . #_unique_end_positions=,34;#_unique_start_positions=,23;AC=13;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0136;AF_ESP_clinvar_20171029_hg19=,0.0945;AF_EXAC_clinvar_20171029_hg19=,0.10900;AF_TGP_clinvar_20171029_hg19=,0.0655;ALLELEID_clinvar_20171029_hg19=,140041;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0605;AN=13;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_671714.1:p.Lys2476Arg|_NP_005742.4:p.Lys2484Arg;Amino_acid_change_in_longest_transcript=,NP_005742.4:p.Lys2484Arg;BaseQRankSum=,0.69;CAF_dbsnp_common_v150_hg19_refseq=,0.9345|0.0655;CLNDISDB_clinvar_20171029_hg19=,MeSH:D008133|MedGen:C0023976|SNOMED_CT:9651007|MedGen:CN119492|SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736;CLNDN_clinvar_20171029_hg19=,Long_QT_syndrome|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype;CLNHGVS_clinvar_20171029_hg19=,NC_000007.13:g.91708898A>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:42362;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_005751.4:c.7451A>G|_NM_147185.2:c.7427A>G;Coding_region_change_in_longest_transcript=,NM_005751.4:c.7451A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0327;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1252;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,38;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,AKAP9:10142;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:10142;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:10142;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:379;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:379;Homo_sapiens_refseq_GRCh37.p13_Genes=,AKAP9;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_147185.2|NM_005751.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene16366;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna23382|rna23381;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:604001;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:604001;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene16366;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,91708898;RS_dbsnp_common_v150_hg19_refseq=,35759833;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,42;Read_coverage=,74;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.7563740221907868;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_147185.2|NM_005751.4;Reverse_read_coverage=,36;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1115;SF=8,10,15,16,22,23,28,34,35,36,38,39;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.907102|0.0928979;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050168000a0515053e100100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.15;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0111111;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0166667;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.0;db_xref=,GeneID:10142|HGNC:HGNC:379|MIM:604001;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:04921;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_147185.2|HPRD:04921|Genbank:NM_005751.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,A-kinase_anchoring_protein_9;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,AKAP9;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,AKAP9;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,AKAP-9|AKAP350|AKAP450|CG-NAP|HYPERION|LQT11|MU-RMS-40.16A|PPP1R45|PRKA9|YOTIAO;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,A-kinase_anchoring_protein_9|_transcript_variant_3|A-kinase_anchoring_protein_9|_transcript_variant_2;transcript_id=,NM_147185.2|NM_005751.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=AKAP9:NM_005751:exon31:c.A7451G:p.K2484R,AKAP9:NM_147185:exon31:c.A7427G:p.K2476R;cytoBand=7q21.2;genomicSuperDups=.;esp6500siv2_all=0.0945;esp6500siv2_ea=0.1273;esp6500siv2_all=0.0945;esp6500siv2_ea=0.1273;1000g2015aug_all=0.0654952;avsnp147=rs35759833;Kaviar_AF=0.109035;Kaviar_AC=16857;Kaviar_AN=154602;ExAC_ALL=0.1090;ExAC_AFR=0.0282;ExAC_AMR=0.0563;ExAC_EAS=0.0247;ExAC_FIN=0.1540;ExAC_NFE=0.1364;ExAC_OTH=0.1111;ExAC_SAS=0.1105;CLNALLELEID=140041;CLNDN=Long_QT_syndrome|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.552;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.242;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.205;MutationAssessor_pred=N;FATHMM_score=4.04;FATHMM_pred=T;PROVEAN_score=-0.05;PROVEAN_pred=N;VEST3_score=0.027;CADD_raw=-1.816;CADD_phred=0.002;DANN_score=0.389;fathmm-MKL_coding_score=0.041;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.927;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=-8.74;phyloP7way_vertebrate=-1.681;phyloP20way_mammalian=-0.629;phastCons7way_vertebrate=0.000;phastCons20way_mammalian=0.001;SiPhy_29way_logOdds=5.265;GDI_full_10282015=.;dpsi_max_tissue=-0.0095;dpsi_zscore=-0.034;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1081;gnomAD_exome_AFR=0.0262;gnomAD_exome_AMR=0.0581;gnomAD_exome_ASJ=0.1167;gnomAD_exome_EAS=0.0262;gnomAD_exome_FIN=0.1536;gnomAD_exome_NFE=0.1370;gnomAD_exome_OTH=0.1233;gnomAD_exome_SAS=0.1062;gnomAD_genome_ALL=0.1098;gnomAD_genome_AFR=0.0299;gnomAD_genome_AMR=0.0716;gnomAD_genome_ASJ=0.1358;gnomAD_genome_EAS=0.0260;gnomAD_genome_FIN=0.1622;gnomAD_genome_NFE=0.1533;gnomAD_genome_OTH=0.1337;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . 1:70:0,39 . 1:76:0,39 . . . . 1:60:0,31 1/1:65:0,65 . . . . . 1:56:0,32 1:64:0,33 . . . . 1:93:0,42 . . . . . 1:101:0,43 1:94:0,42 1:79:0,39 . 1:70:0,37 1:64:0,24 . . 7 91712698 136340;rs6960867 A G 194.74 . #_unique_end_positions=,53;#_unique_start_positions=,44;AC=30;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2209;AF_ESP_clinvar_20171029_hg19=,0.3561;AF_EXAC_clinvar_20171029_hg19=,0.35934;AF_TGP_clinvar_20171029_hg19=,0.2959;ALLELEID_clinvar_20171029_hg19=,140043;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3458;AN=30;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_671714.1:p.Asn2784Ser|_NP_005742.4:p.Asn2792Ser;Amino_acid_change_in_longest_transcript=,NP_005742.4:p.Asn2792Ser;BaseQRankSum=,0.06;CAF_dbsnp_common_v150_hg19_refseq=,0.7041|0.2959;CLNDISDB_clinvar_20171029_hg19=,MeSH:D008133|MedGen:C0023976|SNOMED_CT:9651007|MedGen:CN119492|SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736;CLNDN_clinvar_20171029_hg19=,Long_QT_syndrome|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype;CLNHGVS_clinvar_20171029_hg19=,NC_000007.13:g.91712698A>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:42348;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_005751.4:c.8375A>G|_NM_147185.2:c.8351A>G;Coding_region_change_in_longest_transcript=,NM_005751.4:c.8375A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1617;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3837;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,48;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,AKAP9:10142;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:10142;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:10142;Genotype=,G/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:379;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:379;Homo_sapiens_refseq_GRCh37.p13_Genes=,AKAP9;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_147185.2|NM_005751.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene16366;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna23382|rna23381;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:604001;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:604001;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene16366;QUAL=,159.54589770191004;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,91712698;RS_dbsnp_common_v150_hg19_refseq=,6960867;Read_count=,71;Read_coverage=,71;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_147185.2|NM_005751.4;Reverse_read_coverage=,23;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4100;SF=1,6,7,9,12,13,14,15,18,19,20,21,22,24,25,27,28,29,33,34,36,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.682774|0.317226;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050168000a0517053f100100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.265306;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.387387;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.121951;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.196429;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.420455;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.197674;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.168605;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.25;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.192308;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.41954;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.241379;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.157;db_xref=,GeneID:10142|HGNC:HGNC:379|MIM:604001;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:04921;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_147185.2|HPRD:04921|Genbank:NM_005751.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,A-kinase_anchoring_protein_9;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,AKAP9;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,AKAP9;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,AKAP-9|AKAP350|AKAP450|CG-NAP|HYPERION|LQT11|MU-RMS-40.16A|PPP1R45|PRKA9|YOTIAO;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,A-kinase_anchoring_protein_9|_transcript_variant_3|A-kinase_anchoring_protein_9|_transcript_variant_2;transcript_id=,NM_147185.2|NM_005751.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=AKAP9:NM_005751:exon33:c.A8375G:p.N2792S,AKAP9:NM_147185:exon33:c.A8351G:p.N2784S;cytoBand=7q21.2;genomicSuperDups=.;esp6500siv2_all=0.3561;esp6500siv2_ea=0.4013;esp6500siv2_all=0.3561;esp6500siv2_ea=0.4013;1000g2015aug_all=0.295927;avsnp147=rs6960867;Kaviar_AF=0.353333;Kaviar_AC=54626;Kaviar_AN=154602;ExAC_ALL=0.3593;ExAC_AFR=0.2558;ExAC_AMR=0.2935;ExAC_EAS=0.1751;ExAC_FIN=0.3859;ExAC_NFE=0.3992;ExAC_OTH=0.3891;ExAC_SAS=0.3929;CLNALLELEID=140043;CLNDN=Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.402;SIFT_pred=T;Polyphen2_HDIV_score=0.023;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.007;Polyphen2_HVAR_pred=B;LRT_score=0.934;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=1.935;MutationAssessor_pred=M;FATHMM_score=0.89;FATHMM_pred=T;PROVEAN_score=-1.81;PROVEAN_pred=N;VEST3_score=0.01;CADD_raw=-0.076;CADD_phred=1.912;DANN_score=0.814;fathmm-MKL_coding_score=0.077;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.923;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=-2.13;phyloP7way_vertebrate=0.079;phyloP20way_mammalian=0.106;phastCons7way_vertebrate=0.600;phastCons20way_mammalian=0.896;SiPhy_29way_logOdds=1.523;GDI_full_10282015=.;dpsi_max_tissue=-0.3281;dpsi_zscore=-0.893;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3593;gnomAD_exome_AFR=0.2512;gnomAD_exome_AMR=0.2965;gnomAD_exome_ASJ=0.5456;gnomAD_exome_EAS=0.1714;gnomAD_exome_FIN=0.3911;gnomAD_exome_NFE=0.3899;gnomAD_exome_OTH=0.3761;gnomAD_exome_SAS=0.3913;gnomAD_genome_ALL=0.3294;gnomAD_genome_AFR=0.2494;gnomAD_genome_AMR=0.3067;gnomAD_genome_ASJ=0.5331;gnomAD_genome_EAS=0.1755;gnomAD_genome_FIN=0.3737;gnomAD_genome_NFE=0.3764;gnomAD_genome_OTH=0.3776;Whole_Blood=Whole_Blood::0.356369::-0.118028;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . 1/1:67:0,67 . . . . 1:57:0,32 1:56:0,24 . 1/1:74:0,74 . . 1:69:0,38 1:75:0,32 1:105:0,50 1:81:0,49 . . 1:72:0,31 1/1:64:0,64 1/1:95:0,95 1/1:83:0,83 1:66:0,29 . 1/1:84:0,84 1:59:0,26 . 1:102:0,43 1:76:0,35 1:77:0,38 . . . 1:62:0,28 1:81:0,33 . 1:100:0,60 . . 1:82:0,37 1:83:0,49 1:58:0,31 7 91713972 136341;rs10228334 C T 71.37 . #_unique_end_positions=,15;#_unique_start_positions=,11;AC=24;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5076;AF_ESP_clinvar_20171029_hg19=,0.4410;AF_EXAC_clinvar_20171029_hg19=,0.38317;AF_TGP_clinvar_20171029_hg19=,0.3738;ALLELEID_clinvar_20171029_hg19=,140044;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3573;AN=24;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.6262|0.3738;CLNDISDB_clinvar_20171029_hg19=,MeSH:D008133|MedGen:C0023976|SNOMED_CT:9651007|MedGen:CN119492|SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736;CLNDN_clinvar_20171029_hg19=,Long_QT_syndrome|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype;CLNHGVS_clinvar_20171029_hg19=,NC_000007.13:g.91713972C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:42357;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_005751.4:c.8665C>T|_NM_147185.2:c.8641C>T;Coding_region_change_in_longest_transcript=,NM_005751.4:c.8665C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1617;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3867;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,13;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,AKAP9:10142;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:10142;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:10142;Genotype=,T/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:379;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:379;Homo_sapiens_refseq_GRCh37.p13_Genes=,AKAP9;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_147185.2|NM_005751.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene16366;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna23382|rna23381;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:604001;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:604001;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene16366;QUAL=,80.25023030683074;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,91713972;RS_dbsnp_common_v150_hg19_refseq=,10228334;Read_count=,19;Read_coverage=,19;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_147185.2|NM_005751.4;Reverse_read_coverage=,6;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4100;SF=1,6,7,9,12,13,14,15,18,19,20,24,25,27,29,34,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.562127|0.437873;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05016800030517053f100100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.561224;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.391892;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.191358;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.41954;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.188889;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.170455;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.544944;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.416084;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.431818;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.522321;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.941;db_xref=,GeneID:10142|HGNC:HGNC:379|MIM:604001;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:04921;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_147185.2|HPRD:04921|Genbank:NM_005751.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,A-kinase_anchoring_protein_9;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,AKAP9;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,AKAP9;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,AKAP-9|AKAP350|AKAP450|CG-NAP|HYPERION|LQT11|MU-RMS-40.16A|PPP1R45|PRKA9|YOTIAO;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,A-kinase_anchoring_protein_9|_transcript_variant_3|A-kinase_anchoring_protein_9|_transcript_variant_2;transcript_id=,NM_147185.2|NM_005751.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=AKAP9:NM_005751:exon34:c.C8665T:p.L2889L,AKAP9:NM_147185:exon34:c.C8641T:p.L2881L;cytoBand=7q21.2;genomicSuperDups=.;esp6500siv2_all=0.4410;esp6500siv2_ea=0.4027;esp6500siv2_all=0.4410;esp6500siv2_ea=0.4027;1000g2015aug_all=0.373802;avsnp147=rs10228334;Kaviar_AF=0.373947;Kaviar_AC=57813;Kaviar_AN=154602;ExAC_ALL=0.3832;ExAC_AFR=0.5190;ExAC_AMR=0.3054;ExAC_EAS=0.1741;ExAC_FIN=0.3854;ExAC_NFE=0.4000;ExAC_OTH=0.4024;ExAC_SAS=0.3934;CLNALLELEID=140044;CLNDN=Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1387;dpsi_zscore=-0.554;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3779;gnomAD_exome_AFR=0.5195;gnomAD_exome_AMR=0.3088;gnomAD_exome_ASJ=0.5471;gnomAD_exome_EAS=0.1706;gnomAD_exome_FIN=0.3908;gnomAD_exome_NFE=0.3900;gnomAD_exome_OTH=0.3862;gnomAD_exome_SAS=0.3901;gnomAD_genome_ALL=0.4053;gnomAD_genome_AFR=0.5114;gnomAD_genome_AMR=0.3209;gnomAD_genome_ASJ=0.5367;gnomAD_genome_EAS=0.1759;gnomAD_genome_FIN=0.3749;gnomAD_genome_NFE=0.3782;gnomAD_genome_OTH=0.3947;Whole_Blood=Whole_Blood::0.392371::-0.111212;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . 1/1:17:0,17 . . . . 1:23:0,9 1:15:0,10 . 1/1:23:0,23 . . 1:19:0,8 1:20:0,6 1:16:0,9 1:21:0,8 . . 1:18:0,12 1/1:21:0,21 1/1:33:0,33 . . . 1/1:30:0,30 1:17:0,10 . 1:28:0,20 . 1:24:0,12 . . . . 1:28:0,12 . . . . 1:17:0,5 1:27:0,14 1:21:0,10 7 91714911 136342;rs1063242 C T 166.48 . #_unique_end_positions=,35;#_unique_start_positions=,29;AC=84;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,1.0000;ALLELEID_clinvar_20171029_hg19=,140045;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9986;AN=84;Amino_acid_change=,NP_671714.1:p.Pro2971Ser|_NP_005742.4:p.Pro2979Ser;Amino_acid_change_in_longest_transcript=,NP_005742.4:p.Pro2979Ser;CLNDISDB_clinvar_20171029_hg19=,MeSH:D008133|MedGen:C0023976|SNOMED_CT:9651007|MedGen:CN119492|SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNDN_clinvar_20171029_hg19=,Long_QT_syndrome|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype|not_provided;CLNHGVS_clinvar_20171029_hg19=,NC_000007.13:g.91714911C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:42367;Coding_region_change=,NM_005751.4:c.8935C>T|_NM_147185.2:c.8911C>T;Coding_region_change_in_longest_transcript=,NM_005751.4:c.8935C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,1.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9970;Exact_match=,clinvar_20171029_hg19|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,37;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:10142;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:10142;Genotype=,T/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:379;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:379;Homo_sapiens_refseq_GRCh37.p13_Genes=,AKAP9;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_147185.2|NM_005751.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene16366;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna23382|rna23381;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:604001;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:604001;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene16366;QUAL=,200.0;Read_count=,48;Read_coverage=,48;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_147185.2|NM_005751.4;Reverse_read_coverage=,11;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9980;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.995575;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,1;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,1;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.989796;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,1;conservation_score=,0.932;db_xref=,GeneID:10142|HGNC:HGNC:379|MIM:604001;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:04921;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_147185.2|HPRD:04921|Genbank:NM_005751.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,A-kinase_anchoring_protein_9;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,AKAP9;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,AKAP9;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,AKAP-9|AKAP350|AKAP450|CG-NAP|HYPERION|LQT11|MU-RMS-40.16A|PPP1R45|PRKA9|YOTIAO;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,A-kinase_anchoring_protein_9|_transcript_variant_3|A-kinase_anchoring_protein_9|_transcript_variant_2;transcript_id=,NM_147185.2|NM_005751.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=AKAP9:NM_005751:exon36:c.C8935T:p.P2979S,AKAP9:NM_147185:exon36:c.C8911T:p.P2971S;cytoBand=7q21.2;genomicSuperDups=.;esp6500siv2_all=0.9974;esp6500siv2_ea=0.9962;esp6500siv2_all=0.9974;esp6500siv2_ea=0.9962;1000g2015aug_all=0.998802;avsnp147=rs1063242;Kaviar_AF=0.0001035;Kaviar_AC=16;Kaviar_AN=154602;ExAC_ALL=0.9962;ExAC_AFR=0.9996;ExAC_AMR=0.9985;ExAC_EAS=1;ExAC_FIN=0.9920;ExAC_NFE=0.9963;ExAC_OTH=0.9912;ExAC_SAS=0.9919;CLNALLELEID=140045;CLNDN=Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.475;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.725;MutationAssessor_pred=N;FATHMM_score=4.21;FATHMM_pred=T;PROVEAN_score=1.76;PROVEAN_pred=N;VEST3_score=0.22;CADD_raw=-0.130;CADD_phred=1.518;DANN_score=0.633;fathmm-MKL_coding_score=0.007;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.027;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.732;integrated_confidence_value=0;GERP++_RS=2.47;phyloP7way_vertebrate=0.084;phyloP20way_mammalian=0.154;phastCons7way_vertebrate=0.997;phastCons20way_mammalian=0.977;SiPhy_29way_logOdds=1.723;GDI_full_10282015=.;dpsi_max_tissue=-0.1398;dpsi_zscore=-0.557;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.9962;gnomAD_exome_AFR=0.9995;gnomAD_exome_AMR=0.9989;gnomAD_exome_ASJ=0.9987;gnomAD_exome_EAS=1;gnomAD_exome_FIN=0.9917;gnomAD_exome_NFE=0.9963;gnomAD_exome_OTH=0.9945;gnomAD_exome_SAS=0.9922;gnomAD_genome_ALL=0.9959;gnomAD_genome_AFR=0.9997;gnomAD_genome_AMR=1;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=1;gnomAD_genome_FIN=0.9920;gnomAD_genome_NFE=0.9942;gnomAD_genome_OTH=0.9908;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1/1:45:0,45 1/1:48:0,48 1/1:51:0,51 1/1:46:0,46 1/1:39:0,39 1/1:23:0,23 1/1:47:0,47 1/1:45:0,45 1/1:41:0,41 1/1:56:0,56 1/1:61:0,61 1/1:33:0,33 1/1:55:0,55 1/1:35:0,35 1/1:48:0,48 1/1:53:0,53 1/1:42:0,42 1/1:54:0,54 1/1:57:0,57 1/1:56:0,56 1/1:51:0,51 1/1:34:0,34 1/1:27:0,27 1/1:38:0,38 1/1:50:0,50 1/1:44:0,44 1/1:39:0,39 1/1:51:0,51 1/1:62:0,62 1/1:44:0,44 1/1:54:0,54 1/1:38:0,38 1/1:31:0,31 1/1:44:0,44 1/1:59:0,59 1/1:35:0,35 1/1:47:0,47 1/1:30:0,30 1/1:38:0,38 1/1:41:0,41 1/1:63:0,63 1/1:45:0,45 7 91715662 136343;rs28927678 C T 157.43 . #_unique_end_positions=,33;#_unique_start_positions=,29;AC=30;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2201;AF_ESP_clinvar_20171029_hg19=,0.3557;AF_EXAC_clinvar_20171029_hg19=,0.35888;AF_TGP_clinvar_20171029_hg19=,0.2957;ALLELEID_clinvar_20171029_hg19=,140046;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3458;AN=30;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.23;CAF_dbsnp_common_v150_hg19_refseq=,0.7043|0.2957;CLNDISDB_clinvar_20171029_hg19=,MeSH:D008133|MedGen:C0023976|SNOMED_CT:9651007|MedGen:CN119492|SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736;CLNDN_clinvar_20171029_hg19=,Long_QT_syndrome|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype;CLNHGVS_clinvar_20171029_hg19=,NC_000007.13:g.91715662C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:42374;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_005751.4:c.9145C>T|_NM_147185.2:c.9121C>T;Coding_region_change_in_longest_transcript=,NM_005751.4:c.9145C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1617;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3837;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,25;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,AKAP9:10142;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:10142;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:10142;Genotype=,T/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:379;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:379;Homo_sapiens_refseq_GRCh37.p13_Genes=,AKAP9;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_147185.2|NM_005751.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene16366;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna23382|rna23381;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:604001;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:604001;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene16366;QUAL=,153.5252977886304;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,91715662;RS_dbsnp_common_v150_hg19_refseq=,28927678;Read_count=,51;Read_coverage=,51;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_147185.2|NM_005751.4;Reverse_read_coverage=,26;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4100;SF=1,6,7,9,12,13,14,15,18,19,20,21,22,24,25,27,28,29,33,34,36,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.683838|0.316162;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05036800030517053e100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.993;db_xref=,GeneID:10142|HGNC:HGNC:379|MIM:604001;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:04921;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_147185.2|HPRD:04921|Genbank:NM_005751.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,A-kinase_anchoring_protein_9;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,AKAP9;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,AKAP9;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,AKAP-9|AKAP350|AKAP450|CG-NAP|HYPERION|LQT11|MU-RMS-40.16A|PPP1R45|PRKA9|YOTIAO;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,A-kinase_anchoring_protein_9|_transcript_variant_3|A-kinase_anchoring_protein_9|_transcript_variant_2;transcript_id=,NM_147185.2|NM_005751.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=AKAP9:NM_005751:exon37:c.C9145T:p.L3049L,AKAP9:NM_147185:exon37:c.C9121T:p.L3041L;cytoBand=7q21.2;genomicSuperDups=.;esp6500siv2_all=0.3557;esp6500siv2_ea=0.4013;esp6500siv2_all=0.3557;esp6500siv2_ea=0.4013;1000g2015aug_all=0.295727;avsnp147=rs28927678;Kaviar_AF=0.345701;Kaviar_AC=53446;Kaviar_AN=154602;ExAC_ALL=0.3589;ExAC_AFR=0.2531;ExAC_AMR=0.2939;ExAC_EAS=0.1746;ExAC_FIN=0.3857;ExAC_NFE=0.3990;ExAC_OTH=0.3899;ExAC_SAS=0.3927;CLNALLELEID=140046;CLNDN=Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-2.9142;dpsi_zscore=-2.134;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3593;gnomAD_exome_AFR=0.2493;gnomAD_exome_AMR=0.2965;gnomAD_exome_ASJ=0.5455;gnomAD_exome_EAS=0.1715;gnomAD_exome_FIN=0.3911;gnomAD_exome_NFE=0.3898;gnomAD_exome_OTH=0.3760;gnomAD_exome_SAS=0.3913;gnomAD_genome_ALL=0.3291;gnomAD_genome_AFR=0.2481;gnomAD_genome_AMR=0.3067;gnomAD_genome_ASJ=0.5331;gnomAD_genome_EAS=0.1743;gnomAD_genome_FIN=0.3733;gnomAD_genome_NFE=0.3766;gnomAD_genome_OTH=0.3770;Whole_Blood=Whole_Blood::0.356369::-0.118028;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . 1/1:41:0,41 . . . . 1:39:0,16 1:40:0,17 . 1/1:44:0,44 . . 1:63:0,36 1:76:0,32 1:59:0,40 1:51:0,25 . . 1:40:0,19 1/1:41:0,41 1/1:68:0,68 1/1:51:0,51 1:51:0,26 . 1/1:66:0,66 1:41:0,25 . 1:77:0,27 1:60:0,31 1:50:0,25 . . . 1:34:0,20 1:56:0,26 . 1:44:0,30 . . 1:50:0,26 1:59:0,22 1:40:0,20 7 91726288 . T G 200.00 . #_unique_end_positions=,32;#_unique_start_positions=,26;AC=1;AN=1;Amino_acid_change=,NP_005742.4:p.Leu3339Val|_NP_671714.1:p.Leu3331Val;Amino_acid_change_in_longest_transcript=,NP_005742.4:p.Leu3339Val;BaseQRankSum=,0.33;Coding_region_change=,NM_005751.4:c.10015T>G|_NM_147185.2:c.9991T>G;Coding_region_change_in_longest_transcript=,NM_005751.4:c.10015T>G;Forward_read_coverage=,64;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:10142;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:10142;Genotype=,G/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:379;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:379;Homo_sapiens_refseq_GRCh37.p13_Genes=,AKAP9;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_147185.2|NM_005751.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene16366;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna23382|rna23381;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:604001;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:604001;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene16366;QUAL=,200.0;Read_count=,45;Read_coverage=,99;Read_direction_test_probability=,0.943549868658766;Read_position_test_probability=,0.9729533685538552;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_147185.2|NM_005751.4;Reverse_read_coverage=,35;SF=15;conservation_score=,0.0;db_xref=,GeneID:10142|HGNC:HGNC:379|MIM:604001;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:04921;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_147185.2|HPRD:04921|Genbank:NM_005751.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,A-kinase_anchoring_protein_9;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,AKAP9;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,AKAP9;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,AKAP-9|AKAP350|AKAP450|CG-NAP|HYPERION|LQT11|MU-RMS-40.16A|PPP1R45|PRKA9|YOTIAO;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,A-kinase_anchoring_protein_9|_transcript_variant_3|A-kinase_anchoring_protein_9|_transcript_variant_2;transcript_id=,NM_147185.2|NM_005751.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=AKAP9:NM_005751:exon41:c.T10015G:p.L3339V,AKAP9:NM_147185:exon41:c.T9991G:p.L3331V;cytoBand=7q21.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs777913621;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=8.245e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.499e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.233;SIFT_pred=T;Polyphen2_HDIV_score=0.323;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.079;Polyphen2_HVAR_pred=B;LRT_score=0.104;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=2.075;MutationAssessor_pred=M;FATHMM_score=3.99;FATHMM_pred=T;PROVEAN_score=-0.77;PROVEAN_pred=N;VEST3_score=0.067;CADD_raw=-1.904;CADD_phred=0.002;DANN_score=0.814;fathmm-MKL_coding_score=0.113;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.045;MetaSVM_pred=T;MetaLR_score=0.008;MetaLR_pred=T;integrated_fitCons_score=0.732;integrated_confidence_value=0;GERP++_RS=-9.59;phyloP7way_vertebrate=-1.339;phyloP20way_mammalian=-0.224;phastCons7way_vertebrate=0.001;phastCons20way_mammalian=0.097;SiPhy_29way_logOdds=1.811;GDI_full_10282015=.;dpsi_max_tissue=0.2939;dpsi_zscore=0.882;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.063e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=8.96e-06;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . . . . . . . . 1:94:0,43 . . . . . . . . . . . . . . . . . . . . . . . . . . 7 91726416 . A G 200.00 . #_unique_end_positions=,43;#_unique_start_positions=,47;AC=1;AN=1;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;Coding_region_change=,NM_005751.4:c.10143A>G|_NM_147185.2:c.10119A>G;Coding_region_change_in_longest_transcript=,NM_005751.4:c.10143A>G;Forward_read_coverage=,50;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:10142;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:10142;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:379;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:379;Homo_sapiens_refseq_GRCh37.p13_Genes=,AKAP9;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_147185.2|NM_005751.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene16366;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna23382|rna23381;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:604001;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:604001;Non-synonymous=,No;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene16366;QUAL=,200.0;Read_count=,59;Read_coverage=,115;Read_direction_test_probability=,0.9990064171424455;Read_position_test_probability=,0.983316744433817;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_147185.2|NM_005751.4;Reverse_read_coverage=,65;SF=34;conservation_score=,1.0;db_xref=,GeneID:10142|HGNC:HGNC:379|MIM:604001;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:04921;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_147185.2|HPRD:04921|Genbank:NM_005751.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,A-kinase_anchoring_protein_9;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,AKAP9;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,AKAP9;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,AKAP-9|AKAP350|AKAP450|CG-NAP|HYPERION|LQT11|MU-RMS-40.16A|PPP1R45|PRKA9|YOTIAO;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,A-kinase_anchoring_protein_9|_transcript_variant_3|A-kinase_anchoring_protein_9|_transcript_variant_2;transcript_id=,NM_147185.2|NM_005751.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=AKAP9:NM_005751:exon41:c.A10143G:p.E3381E,AKAP9:NM_147185:exon41:c.A10119G:p.E3373E;cytoBand=7q21.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0430;dpsi_zscore=-0.233;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:103:0,53 . . . . . . . 7 91726927 136344;rs1063243 A C 157.78 . #_unique_end_positions=,53;#_unique_start_positions=,42;AC=30;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5212;AF_ESP_clinvar_20171029_hg19=,0.4463;AF_EXAC_clinvar_20171029_hg19=,0.38459;AF_TGP_clinvar_20171029_hg19=,0.3774;ALLELEID_clinvar_20171029_hg19=,140047;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3573;AN=30;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.19;CAF_dbsnp_common_v150_hg19_refseq=,0.6226|0.3774;CLNDISDB_clinvar_20171029_hg19=,MeSH:D008133|MedGen:C0023976|SNOMED_CT:9651007|MedGen:CN119492|SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736;CLNDN_clinvar_20171029_hg19=,Long_QT_syndrome|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype;CLNHGVS_clinvar_20171029_hg19=,NC_000007.13:g.91726927A>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:42379;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_005751.4:c.10426A>C|_NM_147185.2:c.10402A>C;Coding_region_change_in_longest_transcript=,NM_005751.4:c.10426A>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1617;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3867;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,62;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,AKAP9:10142;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:10142;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:10142;Genotype=,C/C;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:379;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:379;Homo_sapiens_refseq_GRCh37.p13_Genes=,AKAP9;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_147185.2|NM_005751.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene16366;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna23382|rna23381;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:604001;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:604001;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene16366;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,91726927;RS_dbsnp_common_v150_hg19_refseq=,1063243;Read_count=,74;Read_coverage=,74;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_147185.2|NM_005751.4;Reverse_read_coverage=,12;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4100;SF=1,6,7,9,12,13,14,15,18,19,20,21,22,24,25,27,28,29,33,34,36,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.556529|0.443471;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05016800030517053f100100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.581633;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.381818;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.121951;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.188235;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.414773;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.202381;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.168605;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.533333;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.36;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.412587;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.420455;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.526549;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.93;db_xref=,GeneID:10142|HGNC:HGNC:379|MIM:604001;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:04921;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_147185.2|HPRD:04921|Genbank:NM_005751.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,A-kinase_anchoring_protein_9;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,AKAP9;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,AKAP9;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,AKAP-9|AKAP350|AKAP450|CG-NAP|HYPERION|LQT11|MU-RMS-40.16A|PPP1R45|PRKA9|YOTIAO;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,A-kinase_anchoring_protein_9|_transcript_variant_3|A-kinase_anchoring_protein_9|_transcript_variant_2;transcript_id=,NM_147185.2|NM_005751.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=AKAP9:NM_005751:exon42:c.A10426C:p.R3476R,AKAP9:NM_147185:exon42:c.A10402C:p.R3468R;cytoBand=7q21.2;genomicSuperDups=.;esp6500siv2_all=0.4463;esp6500siv2_ea=0.4036;esp6500siv2_all=0.4463;esp6500siv2_ea=0.4036;1000g2015aug_all=0.377396;avsnp147=rs1063243;Kaviar_AF=0.379795;Kaviar_AC=58717;Kaviar_AN=154602;ExAC_ALL=0.3846;ExAC_AFR=0.5320;ExAC_AMR=0.3065;ExAC_EAS=0.1747;ExAC_FIN=0.3858;ExAC_NFE=0.4001;ExAC_OTH=0.4015;ExAC_SAS=0.3934;CLNALLELEID=140047;CLNDN=Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.9982;dpsi_zscore=1.520;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3797;gnomAD_exome_AFR=0.5326;gnomAD_exome_AMR=0.3103;gnomAD_exome_ASJ=0.5474;gnomAD_exome_EAS=0.1715;gnomAD_exome_FIN=0.3910;gnomAD_exome_NFE=0.3909;gnomAD_exome_OTH=0.3881;gnomAD_exome_SAS=0.3919;gnomAD_genome_ALL=0.4072;gnomAD_genome_AFR=0.5204;gnomAD_genome_AMR=0.3210;gnomAD_genome_ASJ=0.5331;gnomAD_genome_EAS=0.1737;gnomAD_genome_FIN=0.3739;gnomAD_genome_NFE=0.3776;gnomAD_genome_OTH=0.3929;Whole_Blood=Whole_Blood::0.395664::-0.110068;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . 1/1:69:0,69 . . . . 1:34:0,10 1:44:0,14 . 1/1:54:0,54 . . 1:54:0,26 1:62:0,29 1:72:0,33 1:69:0,32 . . 1:52:0,22 1/1:54:0,54 1/1:75:0,75 1/1:59:0,59 1:45:0,19 . 1/1:70:0,70 1:40:0,22 . 1:94:0,45 1:63:0,30 1:68:0,26 . . . 1:36:0,26 1:68:0,21 . 1:60:0,29 . . 1:53:0,30 1:65:0,36 1:43:0,25 7 91727479 190514;rs139046510 A T 32.32 . #_unique_end_positions=,7;#_unique_start_positions=,7;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0009;AF_EXAC_clinvar_20171029_hg19=,0.00087;AF_TGP_clinvar_20171029_hg19=,0.0006;ALLELEID_clinvar_20171029_hg19=,188463;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AN=1;Amino_acid_change=,NP_671714.1:p.Asp3547Val|_NP_005742.4:p.Asp3555Val;Amino_acid_change_in_longest_transcript=,NP_005742.4:p.Asp3555Val;BaseQRankSum=,-1.08;CLNDISDB_clinvar_20171029_hg19=,MeSH:D008133|MedGen:C0023976|SNOMED_CT:9651007|MedGen:CN119492|SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNDN_clinvar_20171029_hg19=,Long_QT_syndrome|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype|not_provided;CLNHGVS_clinvar_20171029_hg19=,NC_000007.13:g.91727479A>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_conflicting_interpretations;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:157610;Coding_region_change=,NM_005751.4:c.10664A>T|_NM_147185.2:c.10640A>T;Coding_region_change_in_longest_transcript=,NM_005751.4:c.10664A>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0030;Exact_match=,clinvar_20171029_hg19|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,19;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:10142;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:10142;Genotype=,A/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:379;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:379;Homo_sapiens_refseq_GRCh37.p13_Genes=,AKAP9;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_147185.2|NM_005751.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene16366;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna23382|rna23381;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:604001;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:604001;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene16366;QUAL=,32.322861869169344;Read_count=,8;Read_coverage=,28;Read_direction_test_probability=,0.9765262888683556;Read_position_test_probability=,0.3822074796895987;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_147185.2|NM_005751.4;Reverse_read_coverage=,9;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=40;conservation_score=,1.0;db_xref=,GeneID:10142|HGNC:HGNC:379|MIM:604001;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:04921;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_147185.2|HPRD:04921|Genbank:NM_005751.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,A-kinase_anchoring_protein_9;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,AKAP9;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,AKAP9;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,AKAP-9|AKAP350|AKAP450|CG-NAP|HYPERION|LQT11|MU-RMS-40.16A|PPP1R45|PRKA9|YOTIAO;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,A-kinase_anchoring_protein_9|_transcript_variant_3|A-kinase_anchoring_protein_9|_transcript_variant_2;transcript_id=,NM_147185.2|NM_005751.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=AKAP9:NM_005751:exon43:c.A10664T:p.D3555V,AKAP9:NM_147185:exon43:c.A10640T:p.D3547V;cytoBand=7q21.2;genomicSuperDups=.;esp6500siv2_all=0.0008;esp6500siv2_ea=0.0013;esp6500siv2_all=0.0008;esp6500siv2_ea=0.0013;1000g2015aug_all=0.000599042;avsnp147=rs139046510;Kaviar_AF=0.0008926;Kaviar_AC=138;Kaviar_AN=154602;ExAC_ALL=0.0009;ExAC_AFR=0.0002;ExAC_AMR=0.0007;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0014;ExAC_OTH=0.0011;ExAC_SAS=0;CLNALLELEID=188463;CLNDN=Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.008;SIFT_pred=D;Polyphen2_HDIV_score=0.993;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.827;Polyphen2_HVAR_pred=P;LRT_score=0.001;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=2.08;MutationAssessor_pred=M;FATHMM_score=3.93;FATHMM_pred=T;PROVEAN_score=-4.6;PROVEAN_pred=D;VEST3_score=0.525;CADD_raw=6.273;CADD_phred=29.0;DANN_score=0.970;fathmm-MKL_coding_score=0.991;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.176;MetaSVM_pred=T;MetaLR_score=0.032;MetaLR_pred=T;integrated_fitCons_score=0.732;integrated_confidence_value=0;GERP++_RS=4.74;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.140;phastCons7way_vertebrate=0.999;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=14.681;GDI_full_10282015=.;dpsi_max_tissue=-0.2738;dpsi_zscore=-0.813;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0009;gnomAD_exome_AFR=6.547e-05;gnomAD_exome_AMR=0.0007;gnomAD_exome_ASJ=0.0031;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0015;gnomAD_exome_OTH=0.0018;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0009;gnomAD_genome_AFR=0.0003;gnomAD_genome_AMR=0.0036;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0012;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:24:0,7 . 7 91729127 136345;rs34327395 A G 200.00 . #_unique_end_positions=,27;#_unique_start_positions=,23;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0091;AF_ESP_clinvar_20171029_hg19=,0.0092;AF_EXAC_clinvar_20171029_hg19=,0.00718;AF_TGP_clinvar_20171029_hg19=,0.0068;ALLELEID_clinvar_20171029_hg19=,140048;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0115;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_005742.4:p.Met3614Val|_NP_671714.1:p.Met3606Val;Amino_acid_change_in_longest_transcript=,NP_005742.4:p.Met3614Val;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.9932|0.006789;CLNDISDB_clinvar_20171029_hg19=,MeSH:D008133|MedGen:C0023976|SNOMED_CT:9651007|MedGen:CN119492|SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736;CLNDN_clinvar_20171029_hg19=,Long_QT_syndrome|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype;CLNHGVS_clinvar_20171029_hg19=,NC_000007.13:g.91729127A>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:118066;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_005751.4:c.10840A>G|_NM_147185.2:c.10816A>G;Coding_region_change_in_longest_transcript=,NM_005751.4:c.10840A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0139;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,39;GENEINFO_dbsnp_common_v150_hg19_refseq=,AKAP9:10142;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:10142;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:10142;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:379;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:379;Homo_sapiens_refseq_GRCh37.p13_Genes=,AKAP9;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_147185.2|NM_005751.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene16366;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna23382|rna23381;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:604001;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:604001;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene16366;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,91729127;RS_dbsnp_common_v150_hg19_refseq=,34327395;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,38;Read_coverage=,89;Read_direction_test_probability=,0.9961274550050504;Read_position_test_probability=,0.949952346644743;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_147185.2|NM_005751.4;Reverse_read_coverage=,50;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=21;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.989903|0.0100968;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050168000a05040536100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.467;db_xref=,GeneID:10142|HGNC:HGNC:379|MIM:604001;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:04921;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_147185.2|HPRD:04921|Genbank:NM_005751.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,A-kinase_anchoring_protein_9;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,AKAP9;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,AKAP9;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,AKAP-9|AKAP350|AKAP450|CG-NAP|HYPERION|LQT11|MU-RMS-40.16A|PPP1R45|PRKA9|YOTIAO;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,A-kinase_anchoring_protein_9|_transcript_variant_3|A-kinase_anchoring_protein_9|_transcript_variant_2;transcript_id=,NM_147185.2|NM_005751.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=AKAP9:NM_005751:exon44:c.A10840G:p.M3614V,AKAP9:NM_147185:exon44:c.A10816G:p.M3606V;cytoBand=7q21.2;genomicSuperDups=.;esp6500siv2_all=0.0092;esp6500siv2_ea=0.0088;esp6500siv2_all=0.0092;esp6500siv2_ea=0.0088;1000g2015aug_all=0.00678914;avsnp147=rs34327395;Kaviar_AF=0.0073479;Kaviar_AC=1136;Kaviar_AN=154602;ExAC_ALL=0.0072;ExAC_AFR=0.0088;ExAC_AMR=0.0058;ExAC_EAS=0;ExAC_FIN=0.0008;ExAC_NFE=0.0099;ExAC_OTH=0.0143;ExAC_SAS=0.0021;CLNALLELEID=140048;CLNDN=Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.288;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.003;Polyphen2_HVAR_pred=B;LRT_score=0.057;LRT_pred=N;MutationTaster_score=0.998;MutationTaster_pred=N;MutationAssessor_score=1.25;MutationAssessor_pred=L;FATHMM_score=4.06;FATHMM_pred=T;PROVEAN_score=-1.32;PROVEAN_pred=N;VEST3_score=0.094;CADD_raw=1.252;CADD_phred=12.02;DANN_score=0.882;fathmm-MKL_coding_score=0.885;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.902;MetaSVM_pred=T;MetaLR_score=0.004;MetaLR_pred=T;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=1.11;phyloP7way_vertebrate=0.075;phyloP20way_mammalian=0.196;phastCons7way_vertebrate=0.289;phastCons20way_mammalian=0.974;SiPhy_29way_logOdds=5.656;GDI_full_10282015=.;dpsi_max_tissue=0.2992;dpsi_zscore=0.890;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0070;gnomAD_exome_AFR=0.0085;gnomAD_exome_AMR=0.0054;gnomAD_exome_ASJ=0.0089;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0012;gnomAD_exome_NFE=0.0104;gnomAD_exome_OTH=0.0089;gnomAD_exome_SAS=0.0028;gnomAD_genome_ALL=0.0078;gnomAD_genome_AFR=0.0097;gnomAD_genome_AMR=0.0072;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0011;gnomAD_genome_NFE=0.0093;gnomAD_genome_OTH=0.0061;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . 1:77:0,33 . . . . . . . . . . . . . . . . . . . . 7 91732083 191531;rs141856443 G A 200.00 . #_unique_end_positions=,27;#_unique_start_positions=,22;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0016;AF_EXAC_clinvar_20171029_hg19=,0.00156;AF_TGP_clinvar_20171029_hg19=,0.0016;ALLELEID_clinvar_20171029_hg19=,189307;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0058;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_671714.1:p.Arg3750His|_NP_005742.4:p.Arg3758His;Amino_acid_change_in_longest_transcript=,NP_005742.4:p.Arg3758His;BaseQRankSum=,0.02;CAF_dbsnp_common_v150_hg19_refseq=,0.9984|0.001597;CLNDISDB_clinvar_20171029_hg19=,MeSH:D008133|MedGen:C0023976|SNOMED_CT:9651007|MedGen:CN230736|MedGen:CN517202;CLNDN_clinvar_20171029_hg19=,Long_QT_syndrome|Cardiovascular_phenotype|not_provided;CLNHGVS_clinvar_20171029_hg19=,NC_000007.13:g.91732083G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_005751.4:c.11273G>A|_NM_147185.2:c.11249G>A;Coding_region_change_in_longest_transcript=,NM_005751.4:c.11273G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0040;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,31;GENEINFO_dbsnp_common_v150_hg19_refseq=,AKAP9:10142;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:10142;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:10142;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:379;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:379;Homo_sapiens_refseq_GRCh37.p13_Genes=,AKAP9;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_147185.2|NM_005751.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene16366;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna23382|rna23381;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:604001;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:604001;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene16366;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,91732083;RS_dbsnp_common_v150_hg19_refseq=,141856443;Read_count=,36;Read_coverage=,70;Read_direction_test_probability=,0.8161561380422028;Read_position_test_probability=,0.9089744790155467;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_147185.2|NM_005751.4;Reverse_read_coverage=,39;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=18;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.999004|0.000995948;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050028000a05040436000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.9;db_xref=,GeneID:10142|HGNC:HGNC:379|MIM:604001;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:04921;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_147185.2|HPRD:04921|Genbank:NM_005751.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,A-kinase_anchoring_protein_9;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,AKAP9;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,AKAP9;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,AKAP-9|AKAP350|AKAP450|CG-NAP|HYPERION|LQT11|MU-RMS-40.16A|PPP1R45|PRKA9|YOTIAO;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,A-kinase_anchoring_protein_9|_transcript_variant_3|A-kinase_anchoring_protein_9|_transcript_variant_2;transcript_id=,NM_147185.2|NM_005751.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=AKAP9:NM_005751:exon46:c.G11273A:p.R3758H,AKAP9:NM_147185:exon46:c.G11249A:p.R3750H;cytoBand=7q21.2;genomicSuperDups=.;esp6500siv2_all=0.0016;esp6500siv2_ea=0.0021;esp6500siv2_all=0.0016;esp6500siv2_ea=0.0021;1000g2015aug_all=0.00159744;avsnp147=rs141856443;Kaviar_AF=0.0015524;Kaviar_AC=240;Kaviar_AN=154602;ExAC_ALL=0.0016;ExAC_AFR=0.0002;ExAC_AMR=0.0006;ExAC_EAS=0;ExAC_FIN=0.0054;ExAC_NFE=0.0021;ExAC_OTH=0.0044;ExAC_SAS=0;CLNALLELEID=189307;CLNDN=Long_QT_syndrome|Cardiovascular_phenotype|not_provided;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.494;SIFT_pred=T;Polyphen2_HDIV_score=0.165;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.024;Polyphen2_HVAR_pred=B;LRT_score=0.038;LRT_pred=N;MutationTaster_score=0.555;MutationTaster_pred=N;MutationAssessor_score=0.44;MutationAssessor_pred=N;FATHMM_score=3.83;FATHMM_pred=T;PROVEAN_score=-1.55;PROVEAN_pred=N;VEST3_score=0.204;CADD_raw=2.838;CADD_phred=21.6;DANN_score=0.877;fathmm-MKL_coding_score=0.828;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.975;MetaSVM_pred=T;MetaLR_score=0.008;MetaLR_pred=T;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=2.58;phyloP7way_vertebrate=-0.310;phyloP20way_mammalian=-0.262;phastCons7way_vertebrate=0.016;phastCons20way_mammalian=0.787;SiPhy_29way_logOdds=7.368;GDI_full_10282015=.;dpsi_max_tissue=-0.0283;dpsi_zscore=-0.155;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0017;gnomAD_exome_AFR=6.539e-05;gnomAD_exome_AMR=0.0011;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0054;gnomAD_exome_NFE=0.0022;gnomAD_exome_OTH=0.0013;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0017;gnomAD_genome_AFR=0.0002;gnomAD_genome_AMR=0.0036;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0052;gnomAD_genome_NFE=0.0019;gnomAD_genome_OTH=0.0031;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . 1:65:0,34 . . . . . . . . . . . . . . . . . . . . . . . 7 91736680 . G A 53.01 . #_unique_end_positions=,8;#_unique_start_positions=,7;AC=1;AN=1;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;Coding_region_change=,NM_005751.4:c.11490G>A|_NM_147185.2:c.11466G>A;Coding_region_change_in_longest_transcript=,NM_005751.4:c.11490G>A;Forward_read_coverage=,10;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:10142;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:10142;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:379;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:379;Homo_sapiens_refseq_GRCh37.p13_Genes=,AKAP9;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_147185.2|NM_005751.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene16366;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna23382|rna23381;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:604001;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:604001;Non-synonymous=,No;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene16366;QUAL=,53.00618835506319;Read_count=,10;Read_coverage=,26;Read_direction_test_probability=,0.9671572980576748;Read_position_test_probability=,0.7011421670400515;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_147185.2|NM_005751.4;Reverse_read_coverage=,16;SF=35;conservation_score=,0.001;db_xref=,GeneID:10142|HGNC:HGNC:379|MIM:604001;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:04921;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_147185.2|HPRD:04921|Genbank:NM_005751.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,A-kinase_anchoring_protein_9;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,AKAP9;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,AKAP9;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,AKAP-9|AKAP350|AKAP450|CG-NAP|HYPERION|LQT11|MU-RMS-40.16A|PPP1R45|PRKA9|YOTIAO;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,A-kinase_anchoring_protein_9|_transcript_variant_3|A-kinase_anchoring_protein_9|_transcript_variant_2;transcript_id=,NM_147185.2|NM_005751.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=AKAP9:NM_005751:exon48:c.G11490A:p.T3830T,AKAP9:NM_147185:exon48:c.G11466A:p.T3822T;cytoBand=7q21.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs751636798;Kaviar_AF=4.53e-05;Kaviar_AC=7;Kaviar_AN=154602;ExAC_ALL=5.767e-05;ExAC_AFR=0;ExAC_AMR=0.0002;ExAC_EAS=0.0001;ExAC_FIN=0;ExAC_NFE=4.497e-05;ExAC_OTH=0;ExAC_SAS=6.057e-05;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1308;dpsi_zscore=-0.535;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=3.656e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=5.956e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=5.798e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=4.478e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=3.249e-05;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:22:0,8 . . . . . . 7 92077203 45825;rs10281879 G A 74.18 . #_unique_end_positions=,11;#_unique_start_positions=,8;AC=2;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0741;AF_EXAC_clinvar_20171029_hg19=,0.26543;AF_TGP_clinvar_20171029_hg19=,0.0817;ALLELEID_clinvar_20171029_hg19=,54990;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0793;AN=2;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_066990.3:p.Gly54Ser;Amino_acid_change_in_longest_transcript=,NP_066990.3:p.Gly54Ser;CAF_dbsnp_common_v150_hg19_refseq=,0.9183|0.08167;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000007.13:g.92077203G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,UniProtKB_(protein):Q8WUU5#VAR_032533;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_021167.4:c.160G>A;Coding_region_change_in_longest_transcript=,NM_021167.4:c.160G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0397;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1471;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,8;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,GATAD1:57798;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:57798;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:57798;Genotype=,A/A;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:29941;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:29941;Homo_sapiens_refseq_GRCh37.p13_Genes=,GATAD1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_021167.4|NR_052016.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene16375;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna23398|rna23399;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:614518;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:614518;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene16375;QUAL=,74.18311429294164;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,92077203;RS_dbsnp_common_v150_hg19_refseq=,10281879;Read_count=,22;Read_coverage=,22;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_021167.4|NR_052016.1;Reverse_read_coverage=,14;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0695;SF=3;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.901573|0.0984271;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128000a05150136000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.004;db_xref=,GeneID:57798|HGNC:HGNC:29941|MIM:614518;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_021167.4|Genbank:NR_052016.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GATA_zinc_finger_domain_containing_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA|misc_RNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GATAD1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GATAD1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD2B|ODAG|RG083M05.2;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GATA_zinc_finger_domain_containing_1|_transcript_variant_1|GATA_zinc_finger_domain_containing_1|_transcript_variant_2;transcript_id=,NM_021167.4|NR_052016.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA|transcript;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GATAD1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=GATAD1:NM_021167:exon1:c.G160A:p.G54S;cytoBand=7q21.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.0816693;avsnp147=rs10281879;Kaviar_AF=0.0222572;Kaviar_AC=3441;Kaviar_AN=154602;ExAC_ALL=0.2654;ExAC_AFR=0.35;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=0.2308;ExAC_OTH=0.5;ExAC_SAS=0.2614;CLNALLELEID=54990;CLNDN=Cardiomyopathy,_dilated,_2b|not_specified;CLNDISDB=MedGen:C3553409,OMIM:614672|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.714;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.056;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=0.69;MutationAssessor_pred=N;FATHMM_score=-3.49;FATHMM_pred=D;PROVEAN_score=0.5;PROVEAN_pred=N;VEST3_score=0.198;CADD_raw=-0.493;CADD_phred=0.228;DANN_score=0.898;fathmm-MKL_coding_score=0.288;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.877;MetaSVM_pred=T;MetaLR_score=0.006;MetaLR_pred=T;integrated_fitCons_score=0.243;integrated_confidence_value=2;GERP++_RS=-1.05;phyloP7way_vertebrate=0.897;phyloP20way_mammalian=0.855;phastCons7way_vertebrate=0.819;phastCons20way_mammalian=0.817;SiPhy_29way_logOdds=1.105;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1709;gnomAD_exome_AFR=0.3846;gnomAD_exome_AMR=0.4038;gnomAD_exome_ASJ=0.4474;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.1593;gnomAD_exome_NFE=0.2080;gnomAD_exome_OTH=0.2;gnomAD_exome_SAS=0.2917;gnomAD_genome_ALL=0.1091;gnomAD_genome_AFR=0.0806;gnomAD_genome_AMR=0.0840;gnomAD_genome_ASJ=0.1433;gnomAD_genome_EAS=0.0340;gnomAD_genome_FIN=0.1303;gnomAD_genome_NFE=0.1293;gnomAD_genome_OTH=0.1144;Whole_Blood=.;Liver=Liver::0.129139::-0.462891;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . 1/1:15:0,15 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 7 92085763 45829;rs34768413 C T 115.54 . #_unique_end_positions=,14;#_unique_start_positions=,13;AC=3;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0108;AF_EXAC_clinvar_20171029_hg19=,0.01115;AF_TGP_clinvar_20171029_hg19=,0.0070;ALLELEID_clinvar_20171029_hg19=,54994;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0159;AN=3;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_066990.3:p.Arg233Trp;Amino_acid_change_in_longest_transcript=,NP_066990.3:p.Arg233Trp;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.993|0.006989;CLNDISDB_clinvar_20171029_hg19=,MedGen:C3553409|OMIM:614672|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Cardiomyopathy|_dilated|_2b|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000007.13:g.92085763C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,UniProtKB_(protein):Q8WUU5#VAR_068557;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_021167.4:c.697C>T;Coding_region_change_in_longest_transcript=,NM_021167.4:c.697C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0209;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI;Forward_read_coverage=,21;GENEINFO_dbsnp_common_v150_hg19_refseq=,GATAD1:57798;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:57798;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:57798;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:29941;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:29941;Homo_sapiens_refseq_GRCh37.p13_Genes=,GATAD1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_021167.4|NR_052016.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene16375;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna23398|rna23399;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:614518;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:614518;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene16375;QUAL=,111.64093493223893;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,92085763;RS_dbsnp_common_v150_hg19_refseq=,34768413;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,16;Read_coverage=,38;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9864676348847616;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_021167.4|NR_052016.1;Reverse_read_coverage=,17;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0020;SF=8,24;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.989937|0.0100625;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128000a05040537000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0221239;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.00574713;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.00568182;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.0106383;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.0114943;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.998;db_xref=,GeneID:57798|HGNC:HGNC:29941|MIM:614518;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_021167.4|Genbank:NR_052016.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GATA_zinc_finger_domain_containing_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA|misc_RNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GATAD1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GATAD1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD2B|ODAG|RG083M05.2;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GATA_zinc_finger_domain_containing_1|_transcript_variant_1|GATA_zinc_finger_domain_containing_1|_transcript_variant_2;transcript_id=,NM_021167.4|NR_052016.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA|transcript;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GATAD1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=GATAD1:NM_021167:exon5:c.C697T:p.R233W;cytoBand=7q21.2;genomicSuperDups=.;esp6500siv2_all=0.0108;esp6500siv2_ea=0.0155;esp6500siv2_all=0.0108;esp6500siv2_ea=0.0155;1000g2015aug_all=0.00698882;avsnp147=rs34768413;Kaviar_AF=0.0117786;Kaviar_AC=1821;Kaviar_AN=154602;ExAC_ALL=0.0111;ExAC_AFR=0.0028;ExAC_AMR=0.0059;ExAC_EAS=0.0006;ExAC_FIN=0.0142;ExAC_NFE=0.0164;ExAC_OTH=0.0154;ExAC_SAS=0.0028;CLNALLELEID=54994;CLNDN=Cardiomyopathy,_dilated,_2b|not_specified;CLNDISDB=MedGen:C3553409,OMIM:614672|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.002;SIFT_pred=D;Polyphen2_HDIV_score=0.997;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.548;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.19;MutationAssessor_pred=M;FATHMM_score=0.34;FATHMM_pred=T;PROVEAN_score=-6.59;PROVEAN_pred=D;VEST3_score=0.6;CADD_raw=7.208;CADD_phred=34;DANN_score=0.999;fathmm-MKL_coding_score=0.785;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.813;MetaSVM_pred=T;MetaLR_score=0.107;MetaLR_pred=T;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=3.54;phyloP7way_vertebrate=-0.022;phyloP20way_mammalian=-0.011;phastCons7way_vertebrate=0.964;phastCons20way_mammalian=0.976;SiPhy_29way_logOdds=9.985;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0110;gnomAD_exome_AFR=0.0023;gnomAD_exome_AMR=0.0065;gnomAD_exome_ASJ=0.0042;gnomAD_exome_EAS=0.0005;gnomAD_exome_FIN=0.0133;gnomAD_exome_NFE=0.0172;gnomAD_exome_OTH=0.0137;gnomAD_exome_SAS=0.0034;gnomAD_genome_ALL=0.0091;gnomAD_genome_AFR=0.0025;gnomAD_genome_AMR=0.0072;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0109;gnomAD_genome_NFE=0.0138;gnomAD_genome_OTH=0.0092;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:DP:CLCAD2 . . . . . . . . 1:33:0,15 . . . . . . . . . . . . . . . 1/1:30:0,30 . . . . . . . . . . . . . . . . . 7 128470838 129081;rs3734972 C T 200.00 . #_unique_end_positions=,57;#_unique_start_positions=,57;AC=11;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0938;AF_ESP_clinvar_20171029_hg19=,0.0937;AF_EXAC_clinvar_20171029_hg19=,0.09446;AF_TGP_clinvar_20171029_hg19=,0.1100;ALLELEID_clinvar_20171029_hg19=,134527;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0908;AN=11;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.06;CAF_dbsnp_common_v150_hg19_refseq=,0.89|0.11;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000007.13:g.128470838C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001127487.1:c.147C>T|_NM_001458.4:c.147C>T;Coding_region_change_in_longest_transcript=,NM_001458.4:c.147C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1964;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0825;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,186;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,FLNC:2318;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:2318;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:2318;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:3756;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:3756;Homo_sapiens_refseq_GRCh37.p13_Genes=,FLNC;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001127487.1|NM_001458.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene16860;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna24149|rna24148;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:102565;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:102565;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene16860;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,128470838;RS_dbsnp_common_v150_hg19_refseq=,3734972;Read_count=,105;Read_coverage=,238;Read_direction_test_probability=,0.7758686168654163;Read_position_test_probability=,0.7724617591456937;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001127487.1|NM_001458.4;Reverse_read_coverage=,52;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0849;SF=0,4,15,18,22,23,25,29,34,38,39;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.908648|0.0913524;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05036800030517053f100100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.0816327;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.106195;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.170732;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.211765;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.0625;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.197674;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.226744;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.1;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.08;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.125874;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.102273;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0752212;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.999;db_xref=,GeneID:2318|HGNC:HGNC:3756|MIM:102565;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001127487.1|Genbank:NM_001458.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,filamin_C;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,FLNC;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,FLNC;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ABP-280|ABP280A|ABPA|ABPL|CMH26|FLN2|MFM5|MPD4|RCM5;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,filamin_C|_transcript_variant_2|filamin_C|_transcript_variant_1;transcript_id=,NM_001127487.1|NM_001458.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon1:c.C147T:p.H49H,FLNC:NM_001458:exon1:c.C147T:p.H49H;cytoBand=7q32.1;genomicSuperDups=.;esp6500siv2_all=0.0937;esp6500siv2_ea=0.0851;esp6500siv2_all=0.0937;esp6500siv2_ea=0.0851;1000g2015aug_all=0.110024;avsnp147=rs3734972;Kaviar_AF=0.091907;Kaviar_AC=14209;Kaviar_AN=154602;ExAC_ALL=0.0945;ExAC_AFR=0.1069;ExAC_AMR=0.0872;ExAC_EAS=0.1796;ExAC_FIN=0.0844;ExAC_NFE=0.0860;ExAC_OTH=0.0917;ExAC_SAS=0.0856;CLNALLELEID=134527;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0933;gnomAD_exome_AFR=0.1037;gnomAD_exome_AMR=0.0876;gnomAD_exome_ASJ=0.0908;gnomAD_exome_EAS=0.1770;gnomAD_exome_FIN=0.0832;gnomAD_exome_NFE=0.0856;gnomAD_exome_OTH=0.0892;gnomAD_exome_SAS=0.0845;gnomAD_genome_ALL=0.0967;gnomAD_genome_AFR=0.0927;gnomAD_genome_AMR=0.1002;gnomAD_genome_ASJ=0.0927;gnomAD_genome_EAS=0.1809;gnomAD_genome_FIN=0.0834;gnomAD_genome_NFE=0.0929;gnomAD_genome_OTH=0.0959;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:226:0,99 . . . 1:223:0,95 . . . . . . . . . . 1:297:0,147 . . 1:266:0,125 . . . 1:476:0,218 1:381:0,182 . 1:247:0,104 . . . 1:383:0,175 . . . . 1:289:0,133 . . . 1:249:0,115 1:328:0,158 . . 7 128477472 129096;rs2291560 T C 200.00 . #_unique_end_positions=,30;#_unique_start_positions=,28;AC=13;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1248;AF_ESP_clinvar_20171029_hg19=,0.1164;AF_EXAC_clinvar_20171029_hg19=,0.10888;AF_TGP_clinvar_20171029_hg19=,0.1218;ALLELEID_clinvar_20171029_hg19=,134542;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0620;AN=13;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.21;CAF_dbsnp_common_v150_hg19_refseq=,0.8782|0.1218|.;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000007.13:g.128477472T>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001127487.1:c.720T>C|_NM_001458.4:c.720T>C;Coding_region_change_in_longest_transcript=,NM_001458.4:c.720T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1210;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1093;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,53;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,FLNC:2318;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:2318;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:2318;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:3756;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:3756;Homo_sapiens_refseq_GRCh37.p13_Genes=,FLNC;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001127487.1|NM_001458.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene16860;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna24149|rna24148;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:102565;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:102565;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene16860;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,128477472;RS_dbsnp_common_v150_hg19_refseq=,2291560;Read_count=,50;Read_coverage=,91;Read_direction_test_probability=,0.9980947715638946;Read_position_test_probability=,0.9798436211005161;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001127487.1|NM_001458.4;Reverse_read_coverage=,38;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1738;SF=0,2,4,7,15,18,19,22,23,25,29,34,38;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.893399|0.106601|.;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05036800030515053f100100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.142857;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.150442;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.109756;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.0941176;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.130682;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.116279;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.133721;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.15;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.12;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.13986;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.125;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0973451;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.55;db_xref=,GeneID:2318|HGNC:HGNC:3756|MIM:102565;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001127487.1|Genbank:NM_001458.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,filamin_C;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,FLNC;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,FLNC;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ABP-280|ABP280A|ABPA|ABPL|CMH26|FLN2|MFM5|MPD4|RCM5;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,filamin_C|_transcript_variant_2|filamin_C|_transcript_variant_1;transcript_id=,NM_001127487.1|NM_001458.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon4:c.T720C:p.I240I,FLNC:NM_001458:exon4:c.T720C:p.I240I;cytoBand=7q32.1;genomicSuperDups=.;esp6500siv2_all=0.1164;esp6500siv2_ea=0.1110;esp6500siv2_all=0.1164;esp6500siv2_ea=0.1110;1000g2015aug_all=0.121805;avsnp147=rs2291560;Kaviar_AF=0.108304;Kaviar_AC=16744;Kaviar_AN=154602;ExAC_ALL=0.1089;ExAC_AFR=0.1271;ExAC_AMR=0.0474;ExAC_EAS=0.0936;ExAC_FIN=0.1006;ExAC_NFE=0.1113;ExAC_OTH=0.1089;ExAC_SAS=0.1428;CLNALLELEID=134542;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0636;dpsi_zscore=0.356;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1051;gnomAD_exome_AFR=0.1266;gnomAD_exome_AMR=0.0472;gnomAD_exome_ASJ=0.1117;gnomAD_exome_EAS=0.0943;gnomAD_exome_FIN=0.1004;gnomAD_exome_NFE=0.1118;gnomAD_exome_OTH=0.1091;gnomAD_exome_SAS=0.1401;gnomAD_genome_ALL=0.1161;gnomAD_genome_AFR=0.1246;gnomAD_genome_AMR=0.0644;gnomAD_genome_ASJ=0.1126;gnomAD_genome_EAS=0.0964;gnomAD_genome_FIN=0.0979;gnomAD_genome_NFE=0.1201;gnomAD_genome_OTH=0.1240;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:78:0,42 . 1:136:0,68 . 1:74:0,32 . . 1:143:0,53 . . . . . . . 1:182:0,74 . . 1:134:0,76 1:152:0,87 . . 1:227:0,114 1:194:0,110 . 1:174:0,88 . . . 1:214:0,95 . . . . 1:175:0,73 . . . 1:138:0,60 . . . 7 128477547 129099;rs2291561 T C 200.00 . #_unique_end_positions=,32;#_unique_start_positions=,32;AC=13;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1218;AF_ESP_clinvar_20171029_hg19=,0.1144;AF_EXAC_clinvar_20171029_hg19=,0.10858;AF_TGP_clinvar_20171029_hg19=,0.1210;ALLELEID_clinvar_20171029_hg19=,134545;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0620;AN=13;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.38;CAF_dbsnp_common_v150_hg19_refseq=,0.879|0.121;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000007.13:g.128477547T>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001127487.1:c.795T>C|_NM_001458.4:c.795T>C;Coding_region_change_in_longest_transcript=,NM_001458.4:c.795T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1210;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1093;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,55;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,FLNC:2318;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:2318;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:2318;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:3756;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:3756;Homo_sapiens_refseq_GRCh37.p13_Genes=,FLNC;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001127487.1|NM_001458.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene16860;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna24149|rna24148;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:102565;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:102565;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene16860;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,128477547;RS_dbsnp_common_v150_hg19_refseq=,2291561;Read_count=,50;Read_coverage=,96;Read_direction_test_probability=,0.7630567269311539;Read_position_test_probability=,0.9418253618600996;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001127487.1|NM_001458.4;Reverse_read_coverage=,41;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1738;SF=0,2,4,7,15,18,19,22,23,25,29,34,38;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.894979|0.105021;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05036800030517053f100101;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.142857;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.133333;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.1;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.0853659;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.129412;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.111111;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.144444;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.153409;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.13986;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.125;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0833333;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.948;db_xref=,GeneID:2318|HGNC:HGNC:3756|MIM:102565;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001127487.1|Genbank:NM_001458.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,filamin_C;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,FLNC;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,FLNC;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ABP-280|ABP280A|ABPA|ABPL|CMH26|FLN2|MFM5|MPD4|RCM5;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,filamin_C|_transcript_variant_2|filamin_C|_transcript_variant_1;transcript_id=,NM_001127487.1|NM_001458.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon4:c.T795C:p.G265G,FLNC:NM_001458:exon4:c.T795C:p.G265G;cytoBand=7q32.1;genomicSuperDups=.;esp6500siv2_all=0.1144;esp6500siv2_ea=0.1108;esp6500siv2_all=0.1144;esp6500siv2_ea=0.1108;1000g2015aug_all=0.121006;avsnp147=rs2291561;Kaviar_AF=0.107023;Kaviar_AC=16546;Kaviar_AN=154602;ExAC_ALL=0.1086;ExAC_AFR=0.1249;ExAC_AMR=0.0469;ExAC_EAS=0.0936;ExAC_FIN=0.1005;ExAC_NFE=0.1112;ExAC_OTH=0.11;ExAC_SAS=0.1426;CLNALLELEID=134545;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0634;dpsi_zscore=0.355;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1048;gnomAD_exome_AFR=0.1241;gnomAD_exome_AMR=0.0467;gnomAD_exome_ASJ=0.1116;gnomAD_exome_EAS=0.0942;gnomAD_exome_FIN=0.1004;gnomAD_exome_NFE=0.1116;gnomAD_exome_OTH=0.1092;gnomAD_exome_SAS=0.1399;gnomAD_genome_ALL=0.1152;gnomAD_genome_AFR=0.1218;gnomAD_genome_AMR=0.0621;gnomAD_genome_ASJ=0.1126;gnomAD_genome_EAS=0.0962;gnomAD_genome_FIN=0.0979;gnomAD_genome_NFE=0.1200;gnomAD_genome_OTH=0.1235;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:89:0,46 . 1:121:0,59 . 1:78:0,34 . . 1:141:0,64 . . . . . . . 1:160:0,77 . . 1:141:0,69 1:138:0,81 . . 1:201:0,101 1:214:0,113 . 1:175:0,90 . . . 1:193:0,94 . . . . 1:168:0,72 . . . 1:138:0,64 . . . 7 128477558 . G A 200.00 . #_unique_end_positions=,34;#_unique_start_positions=,33;AC=1;AN=1;Amino_acid_change=,NP_001449.3:p.Arg269Gln|_NP_001120959.1:p.Arg269Gln;Amino_acid_change_in_longest_transcript=,NP_001449.3:p.Arg269Gln;BaseQRankSum=,-0.17;Coding_region_change=,NM_001127487.1:c.806G>A|_NM_001458.4:c.806G>A;Coding_region_change_in_longest_transcript=,NM_001458.4:c.806G>A;Forward_read_coverage=,73;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:2318;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:2318;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:3756;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:3756;Homo_sapiens_refseq_GRCh37.p13_Genes=,FLNC;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001127487.1|NM_001458.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene16860;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna24149|rna24148;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:102565;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:102565;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene16860;QUAL=,200.0;Read_count=,58;Read_coverage=,121;Read_direction_test_probability=,0.9797343527836466;Read_position_test_probability=,0.9941268123090102;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001127487.1|NM_001458.4;Reverse_read_coverage=,48;SF=3;conservation_score=,1.0;db_xref=,GeneID:2318|HGNC:HGNC:3756|MIM:102565;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001127487.1|Genbank:NM_001458.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,filamin_C;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,FLNC;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,FLNC;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ABP-280|ABP280A|ABPA|ABPL|CMH26|FLN2|MFM5|MPD4|RCM5;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,filamin_C|_transcript_variant_2|filamin_C|_transcript_variant_1;transcript_id=,NM_001127487.1|NM_001458.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon4:c.G806A:p.R269Q,FLNC:NM_001458:exon4:c.G806A:p.R269Q;cytoBand=7q32.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.002;SIFT_pred=D;Polyphen2_HDIV_score=0.975;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.268;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.981;MutationTaster_pred=D;MutationAssessor_score=2.14;MutationAssessor_pred=M;FATHMM_score=-2.08;FATHMM_pred=D;PROVEAN_score=-3.23;PROVEAN_pred=D;VEST3_score=0.43;CADD_raw=5.233;CADD_phred=25.6;DANN_score=0.999;fathmm-MKL_coding_score=0.625;fathmm-MKL_coding_pred=D;MetaSVM_score=0.212;MetaSVM_pred=D;MetaLR_score=0.541;MetaLR_pred=D;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=5.19;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.995;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=11.162;GDI_full_10282015=.;dpsi_max_tissue=-0.0723;dpsi_zscore=-0.357;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=10 GT:DP:CLCAD2 . . . 1:112:0,53 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 7 128478103 129078;rs2291562 C T 162.22 . #_unique_end_positions=,27;#_unique_start_positions=,25;AC=5;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3313;AF_ESP_clinvar_20171029_hg19=,0.1147;AF_EXAC_clinvar_20171029_hg19=,0.09870;AF_TGP_clinvar_20171029_hg19=,0.1965;ALLELEID_clinvar_20171029_hg19=,134524;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1470;AN=5;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.8035|0.1965;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000007.13:g.128478103C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001127487.1:c.1032C>T|_NM_001458.4:c.1032C>T;Coding_region_change_in_longest_transcript=,NM_001458.4:c.1032C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3224;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0318;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,32;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,FLNC:2318;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:2318;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:2318;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:3756;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:3756;Homo_sapiens_refseq_GRCh37.p13_Genes=,FLNC;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001127487.1|NM_001458.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene16860;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna24149|rna24148;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:102565;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:102565;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene16860;QUAL=,84.05267259602427;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,128478103;RS_dbsnp_common_v150_hg19_refseq=,2291562;Read_count=,33;Read_coverage=,51;Read_direction_test_probability=,0.9455503109347614;Read_position_test_probability=,0.9244385555441281;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001127487.1|NM_001458.4;Reverse_read_coverage=,19;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0890;SF=1,16,20,25,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.852565|0.147435;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050168000305150537100100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.27551;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0353982;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.317073;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.341176;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.102273;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.337209;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.261628;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.244444;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.12;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.153846;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.0454545;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.331858;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.93;db_xref=,GeneID:2318|HGNC:HGNC:3756|MIM:102565;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001127487.1|Genbank:NM_001458.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,filamin_C;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,FLNC;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,FLNC;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ABP-280|ABP280A|ABPA|ABPL|CMH26|FLN2|MFM5|MPD4|RCM5;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,filamin_C|_transcript_variant_2|filamin_C|_transcript_variant_1;transcript_id=,NM_001127487.1|NM_001458.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon6:c.C1032T:p.V344V,FLNC:NM_001458:exon6:c.C1032T:p.V344V;cytoBand=7q32.1;genomicSuperDups=.;esp6500siv2_all=0.1147;esp6500siv2_ea=0.0409;esp6500siv2_all=0.1147;esp6500siv2_ea=0.0409;1000g2015aug_all=0.196486;avsnp147=rs2291562;Kaviar_AF=0.0938798;Kaviar_AC=14514;Kaviar_AN=154602;ExAC_ALL=0.0987;ExAC_AFR=0.2839;ExAC_AMR=0.1680;ExAC_EAS=0.3229;ExAC_FIN=0.0230;ExAC_NFE=0.0420;ExAC_OTH=0.0746;ExAC_SAS=0.0838;CLNALLELEID=134524;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.8243;dpsi_zscore=-1.841;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0951;gnomAD_exome_AFR=0.2849;gnomAD_exome_AMR=0.1518;gnomAD_exome_ASJ=0.0183;gnomAD_exome_EAS=0.3245;gnomAD_exome_FIN=0.0268;gnomAD_exome_NFE=0.0410;gnomAD_exome_OTH=0.0734;gnomAD_exome_SAS=0.0847;gnomAD_genome_ALL=0.1266;gnomAD_genome_AFR=0.2929;gnomAD_genome_AMR=0.1295;gnomAD_genome_ASJ=0.0199;gnomAD_genome_EAS=0.3092;gnomAD_genome_FIN=0.0261;gnomAD_genome_NFE=0.0397;gnomAD_genome_OTH=0.0704;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . 1:48:0,32 . . . . . . . . . . . . . . 1:72:0,31 . . . 1:55:0,21 . . . . 1:55:0,25 . . . . . . . . . . . . . . . 1:67:0,35 7 128478820 129079;rs115140972 C T 200.00 . #_unique_end_positions=,55;#_unique_start_positions=,43;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0703;AF_ESP_clinvar_20171029_hg19=,0.0150;AF_EXAC_clinvar_20171029_hg19=,0.00467;AF_TGP_clinvar_20171029_hg19=,0.0190;ALLELEID_clinvar_20171029_hg19=,134525;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0029;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.71;CAF_dbsnp_common_v150_hg19_refseq=,0.981|0.01897;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000007.13:g.128478820C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_single_submitter;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001127487.1:c.1374C>T|_NM_001458.4:c.1374C>T;Coding_region_change_in_longest_transcript=,NM_001458.4:c.1374C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,72;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,FLNC:2318;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:2318;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:2318;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:3756;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:3756;Homo_sapiens_refseq_GRCh37.p13_Genes=,FLNC;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001127487.1|NM_001458.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene16860;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna24149|rna24148;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:102565;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:102565;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene16860;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,128478820;RS_dbsnp_common_v150_hg19_refseq=,115140972;Read_count=,105;Read_coverage=,177;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9618648531408873;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001127487.1|NM_001458.4;Reverse_read_coverage=,105;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=32;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.976097|0.0239027;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050160000305150436100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:2318|HGNC:HGNC:3756|MIM:102565;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001127487.1|Genbank:NM_001458.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,filamin_C;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,FLNC;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,FLNC;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ABP-280|ABP280A|ABPA|ABPL|CMH26|FLN2|MFM5|MPD4|RCM5;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,filamin_C|_transcript_variant_2|filamin_C|_transcript_variant_1;transcript_id=,NM_001127487.1|NM_001458.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon8:c.C1374T:p.P458P,FLNC:NM_001458:exon8:c.C1374T:p.P458P;cytoBand=7q32.1;genomicSuperDups=.;esp6500siv2_all=0.0150;esp6500siv2_ea=.;esp6500siv2_all=0.0150;esp6500siv2_ea=.;1000g2015aug_all=0.0189696;avsnp147=rs115140972;Kaviar_AF=0.0044372;Kaviar_AC=686;Kaviar_AN=154602;ExAC_ALL=0.0047;ExAC_AFR=0.0552;ExAC_AMR=0.0017;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=4.602e-05;ExAC_OTH=0.0034;ExAC_SAS=6.064e-05;CLNALLELEID=134525;CLNDN=Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.2644;dpsi_zscore=0.837;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0036;gnomAD_exome_AFR=0.0518;gnomAD_exome_AMR=0.0022;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=4.535e-05;gnomAD_exome_OTH=0.0011;gnomAD_exome_SAS=6.498e-05;gnomAD_genome_ALL=0.0134;gnomAD_genome_AFR=0.0466;gnomAD_genome_AMR=0.0048;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.691e-05;gnomAD_genome_OTH=0.0031;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-10 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:152:0,85 . . . . . . . . . 7 128480123 129080;rs2291563 C A 200.00 . #_unique_end_positions=,35;#_unique_start_positions=,35;AC=2;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3578;AF_ESP_clinvar_20171029_hg19=,0.1055;AF_EXAC_clinvar_20171029_hg19=,0.08354;AF_TGP_clinvar_20171029_hg19=,0.1961;ALLELEID_clinvar_20171029_hg19=,134526;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1282;AN=2;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.3;CAF_dbsnp_common_v150_hg19_refseq=,0.8039|0.1961;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000007.13:g.128480123C>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001127487.1:c.1458C>A|_NM_001458.4:c.1458C>A;Coding_region_change_in_longest_transcript=,NM_001458.4:c.1458C>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3125;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0199;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,83;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,FLNC:2318;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:2318;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:2318;Genotype=,A/C;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:3756;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:3756;Homo_sapiens_refseq_GRCh37.p13_Genes=,FLNC;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001127487.1|NM_001458.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene16860;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna24149|rna24148;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:102565;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:102565;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene16860;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,128480123;RS_dbsnp_common_v150_hg19_refseq=,2291563;Read_count=,66;Read_coverage=,133;Read_direction_test_probability=,0.8864514998905517;Read_position_test_probability=,0.9601070060641845;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001127487.1|NM_001458.4;Reverse_read_coverage=,50;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0869;SF=25,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.847963|0.152037;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050168000305150537100100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.285714;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.039823;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.304878;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.347059;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.107955;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.302326;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.22093;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.294444;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.1;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.178322;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.0170455;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.367257;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:2318|HGNC:HGNC:3756|MIM:102565;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001127487.1|Genbank:NM_001458.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,filamin_C;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,FLNC;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,FLNC;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ABP-280|ABP280A|ABPA|ABPL|CMH26|FLN2|MFM5|MPD4|RCM5;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,filamin_C|_transcript_variant_2|filamin_C|_transcript_variant_1;transcript_id=,NM_001127487.1|NM_001458.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon9:c.C1458A:p.P486P,FLNC:NM_001458:exon9:c.C1458A:p.P486P;cytoBand=7q32.1;genomicSuperDups=.;esp6500siv2_all=0.1055;esp6500siv2_ea=0.0179;esp6500siv2_all=0.1055;esp6500siv2_ea=0.0179;1000g2015aug_all=0.196086;avsnp147=rs2291563;Kaviar_AF=0.0789058;Kaviar_AC=12199;Kaviar_AN=154602;ExAC_ALL=0.0835;ExAC_AFR=0.3073;ExAC_AMR=0.1383;ExAC_EAS=0.3167;ExAC_FIN=0.0230;ExAC_NFE=0.0205;ExAC_OTH=0.0703;ExAC_SAS=0.0701;CLNALLELEID=134526;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0994;dpsi_zscore=0.481;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0807;gnomAD_exome_AFR=0.3110;gnomAD_exome_AMR=0.1274;gnomAD_exome_ASJ=0.0250;gnomAD_exome_EAS=0.3206;gnomAD_exome_FIN=0.0258;gnomAD_exome_NFE=0.0181;gnomAD_exome_OTH=0.0590;gnomAD_exome_SAS=0.0697;gnomAD_genome_ALL=0.1217;gnomAD_genome_AFR=0.3170;gnomAD_genome_AMR=0.1062;gnomAD_genome_ASJ=0.0099;gnomAD_genome_EAS=0.3046;gnomAD_genome_FIN=0.0229;gnomAD_genome_NFE=0.0192;gnomAD_genome_OTH=0.05;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . 1:119:0,58 . . . . . . . . . . . . . . . 1:123:0,68 7 128480666 129082;rs76046880 C T 200.00 . #_unique_end_positions=,62;#_unique_start_positions=,51;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0053;AF_ESP_clinvar_20171029_hg19=,0.0274;AF_EXAC_clinvar_20171029_hg19=,0.03154;AF_TGP_clinvar_20171029_hg19=,0.0160;ALLELEID_clinvar_20171029_hg19=,134528;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0144;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.46;CAF_dbsnp_common_v150_hg19_refseq=,0.984|0.01597;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000007.13:g.128480666C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001127487.1:c.1614C>T|_NM_001458.4:c.1614C>T;Coding_region_change_in_longest_transcript=,NM_001458.4:c.1614C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0388;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,95;GENEINFO_dbsnp_common_v150_hg19_refseq=,FLNC:2318;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:2318;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:2318;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:3756;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:3756;Homo_sapiens_refseq_GRCh37.p13_Genes=,FLNC;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001127487.1|NM_001458.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene16860;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna24149|rna24148;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:102565;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:102565;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene16860;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,128480666;RS_dbsnp_common_v150_hg19_refseq=,76046880;Read_count=,100;Read_coverage=,168;Read_direction_test_probability=,0.8138015839472788;Read_position_test_probability=,0.6354030237491136;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001127487.1|NM_001458.4;Reverse_read_coverage=,73;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0245;SF=6;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.980356|0.0196442;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050068000305140436100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:2318|HGNC:HGNC:3756|MIM:102565;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001127487.1|Genbank:NM_001458.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,filamin_C;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,FLNC;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,FLNC;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ABP-280|ABP280A|ABPA|ABPL|CMH26|FLN2|MFM5|MPD4|RCM5;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,filamin_C|_transcript_variant_2|filamin_C|_transcript_variant_1;transcript_id=,NM_001127487.1|NM_001458.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon10:c.C1614T:p.Y538Y,FLNC:NM_001458:exon10:c.C1614T:p.Y538Y;cytoBand=7q32.1;genomicSuperDups=.;esp6500siv2_all=0.0274;esp6500siv2_ea=0.0347;esp6500siv2_all=0.0274;esp6500siv2_ea=0.0347;1000g2015aug_all=0.0159744;avsnp147=rs76046880;Kaviar_AF=0.0309698;Kaviar_AC=4788;Kaviar_AN=154602;ExAC_ALL=0.0315;ExAC_AFR=0.0111;ExAC_AMR=0.0103;ExAC_EAS=0.0002;ExAC_FIN=0.0702;ExAC_NFE=0.0395;ExAC_OTH=0.0234;ExAC_SAS=0.0280;CLNALLELEID=134528;CLNDN=Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0582;dpsi_zscore=0.334;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0314;gnomAD_exome_AFR=0.0106;gnomAD_exome_AMR=0.0114;gnomAD_exome_ASJ=0.0201;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0.0759;gnomAD_exome_NFE=0.0386;gnomAD_exome_OTH=0.0294;gnomAD_exome_SAS=0.0269;gnomAD_genome_ALL=0.0343;gnomAD_genome_AFR=0.0102;gnomAD_genome_AMR=0.0191;gnomAD_genome_ASJ=0.0298;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0684;gnomAD_genome_NFE=0.0442;gnomAD_genome_OTH=0.0468;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-10 GT:DP:CLCAD2 . . . . . . 1:149:0,89 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 7 128481312 194038;rs12536635 G A 200.00 . #_unique_end_positions=,38;#_unique_start_positions=,37;AC=2;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0040;AF_EXAC_clinvar_20171029_hg19=,0.00413;AF_TGP_clinvar_20171029_hg19=,0.0016;ALLELEID_clinvar_20171029_hg19=,191201;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0043;AN=2;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-1.12;CAF_dbsnp_common_v150_hg19_refseq=,0.9984|0.001597;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000007.13:g.128481312G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001127487.1:c.1902G>A|_NM_001458.4:c.1902G>A;Coding_region_change_in_longest_transcript=,NM_001458.4:c.1902G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0040;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,55;GENEINFO_dbsnp_common_v150_hg19_refseq=,FLNC:2318;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:2318;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:2318;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:3756;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:3756;Homo_sapiens_refseq_GRCh37.p13_Genes=,FLNC;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001127487.1|NM_001458.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene16860;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna24149|rna24148;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:102565;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:102565;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene16860;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,128481312;RS_dbsnp_common_v150_hg19_refseq=,12536635;Read_count=,49;Read_coverage=,111;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9678584593707543;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001127487.1|NM_001458.4;Reverse_read_coverage=,56;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;SF=6,14;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.996634|0.00336562;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128000305040137000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.999;db_xref=,GeneID:2318|HGNC:HGNC:3756|MIM:102565;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001127487.1|Genbank:NM_001458.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,filamin_C;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,FLNC;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,FLNC;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ABP-280|ABP280A|ABPA|ABPL|CMH26|FLN2|MFM5|MPD4|RCM5;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,filamin_C|_transcript_variant_2|filamin_C|_transcript_variant_1;transcript_id=,NM_001127487.1|NM_001458.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon12:c.G1902A:p.E634E,FLNC:NM_001458:exon12:c.G1902A:p.E634E;cytoBand=7q32.1;genomicSuperDups=.;esp6500siv2_all=0.0040;esp6500siv2_ea=0.0054;esp6500siv2_all=0.0040;esp6500siv2_ea=0.0054;1000g2015aug_all=0.00159744;avsnp147=rs12536635;Kaviar_AF=0.0041591;Kaviar_AC=643;Kaviar_AN=154602;ExAC_ALL=0.0041;ExAC_AFR=0.0013;ExAC_AMR=0.0035;ExAC_EAS=0;ExAC_FIN=0.0006;ExAC_NFE=0.0064;ExAC_OTH=0.0033;ExAC_SAS=0.0007;CLNALLELEID=191201;CLNDN=Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0396;dpsi_zscore=0.248;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0043;gnomAD_exome_AFR=0.0014;gnomAD_exome_AMR=0.0043;gnomAD_exome_ASJ=0.0072;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0009;gnomAD_exome_NFE=0.0066;gnomAD_exome_OTH=0.0073;gnomAD_exome_SAS=0.0006;gnomAD_genome_ALL=0.0038;gnomAD_genome_AFR=0.0008;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0068;gnomAD_genome_OTH=0.0031;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-8 GT:DP:CLCAD2 . . . . . . 1:104:0,47 . . . . . . . 1:204:0,96 . . . . . . . . . . . . . . . . . . . . . . . . . . . 7 128482959 129083;rs75133741 C T 200.00 . #_unique_end_positions=,60;#_unique_start_positions=,56;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0008;AF_ESP_clinvar_20171029_hg19=,0.0012;AF_EXAC_clinvar_20171029_hg19=,0.00901;AF_TGP_clinvar_20171029_hg19=,0.0240;ALLELEID_clinvar_20171029_hg19=,134529;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001449.3:p.Thr834Met|_NP_001120959.1:p.Thr834Met;Amino_acid_change_in_longest_transcript=,NP_001449.3:p.Thr834Met;BaseQRankSum=,-0.26;CAF_dbsnp_common_v150_hg19_refseq=,0.976|0.02396;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000007.13:g.128482959C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001127487.1:c.2501C>T|_NM_001458.4:c.2501C>T;Coding_region_change_in_longest_transcript=,NM_001458.4:c.2501C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0357;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,82;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,FLNC:2318;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:2318;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:2318;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:3756;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:3756;Homo_sapiens_refseq_GRCh37.p13_Genes=,FLNC;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001127487.1|NM_001458.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene16860;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna24149|rna24148;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:102565;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:102565;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene16860;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,128482959;RS_dbsnp_common_v150_hg19_refseq=,75133741;Read_count=,98;Read_coverage=,191;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9527075473280038;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001127487.1|NM_001458.4;Reverse_read_coverage=,109;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0849;SF=8;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.999244|0.000755546;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050168000a05150436100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:2318|HGNC:HGNC:3756|MIM:102565;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001127487.1|Genbank:NM_001458.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,filamin_C;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,FLNC;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,FLNC;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ABP-280|ABP280A|ABPA|ABPL|CMH26|FLN2|MFM5|MPD4|RCM5;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,filamin_C|_transcript_variant_2|filamin_C|_transcript_variant_1;transcript_id=,NM_001127487.1|NM_001458.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon16:c.C2501T:p.T834M,FLNC:NM_001458:exon16:c.C2501T:p.T834M;cytoBand=7q32.1;genomicSuperDups=.;esp6500siv2_all=0.0012;esp6500siv2_ea=0.0015;esp6500siv2_all=0.0012;esp6500siv2_ea=0.0015;1000g2015aug_all=0.0239617;avsnp147=rs75133741;Kaviar_AF=0.0084281;Kaviar_AC=1303;Kaviar_AN=154602;ExAC_ALL=0.0090;ExAC_AFR=0.0005;ExAC_AMR=0.0012;ExAC_EAS=0.0179;ExAC_FIN=0;ExAC_NFE=0.0012;ExAC_OTH=0.0056;ExAC_SAS=0.0498;CLNALLELEID=134529;CLNDN=Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.135;SIFT_pred=T;Polyphen2_HDIV_score=0.367;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.177;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=1.375;MutationAssessor_pred=L;FATHMM_score=-3.09;FATHMM_pred=D;PROVEAN_score=-3.02;PROVEAN_pred=D;VEST3_score=0.32;CADD_raw=3.931;CADD_phred=23.5;DANN_score=0.991;fathmm-MKL_coding_score=0.907;fathmm-MKL_coding_pred=D;MetaSVM_score=0.082;MetaSVM_pred=D;MetaLR_score=0.493;MetaLR_pred=T;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=5.7;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.968;phastCons20way_mammalian=0.524;SiPhy_29way_logOdds=19.847;GDI_full_10282015=.;dpsi_max_tissue=0.0641;dpsi_zscore=0.358;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0082;gnomAD_exome_AFR=0.0005;gnomAD_exome_AMR=0.0009;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0.0171;gnomAD_exome_FIN=4.485e-05;gnomAD_exome_NFE=0.0012;gnomAD_exome_OTH=0.0049;gnomAD_exome_SAS=0.0495;gnomAD_genome_ALL=0.0017;gnomAD_genome_AFR=0.0007;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0.0160;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0012;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-7 GT:DP:CLCAD2 . . . . . . . . 1:173:0,88 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 7 128483926 . C T 200.00 . #_unique_end_positions=,39;#_unique_start_positions=,29;AC=1;AN=1;Amino_acid_change=,NP_001120959.1:p.Pro963Leu|_NP_001449.3:p.Pro963Leu;Amino_acid_change_in_longest_transcript=,NP_001449.3:p.Pro963Leu;BaseQRankSum=,-0.79;Coding_region_change=,NM_001127487.1:c.2888C>T|_NM_001458.4:c.2888C>T;Coding_region_change_in_longest_transcript=,NM_001458.4:c.2888C>T;Forward_read_coverage=,73;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:2318;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:2318;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:3756;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:3756;Homo_sapiens_refseq_GRCh37.p13_Genes=,FLNC;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001127487.1|NM_001458.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene16860;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna24149|rna24148;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:102565;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:102565;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene16860;QUAL=,200.0;Read_count=,46;Read_coverage=,113;Read_direction_test_probability=,0.9956809052509354;Read_position_test_probability=,0.953023865589497;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001127487.1|NM_001458.4;Reverse_read_coverage=,40;SF=19;conservation_score=,1.0;db_xref=,GeneID:2318|HGNC:HGNC:3756|MIM:102565;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001127487.1|Genbank:NM_001458.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,filamin_C;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,FLNC;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,FLNC;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ABP-280|ABP280A|ABPA|ABPL|CMH26|FLN2|MFM5|MPD4|RCM5;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,filamin_C|_transcript_variant_2|filamin_C|_transcript_variant_1;transcript_id=,NM_001127487.1|NM_001458.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon19:c.C2888T:p.P963L,FLNC:NM_001458:exon19:c.C2888T:p.P963L;cytoBand=7q32.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.029;SIFT_pred=D;Polyphen2_HDIV_score=0.692;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.262;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=1.695;MutationAssessor_pred=L;FATHMM_score=-2.88;FATHMM_pred=D;PROVEAN_score=-4.38;PROVEAN_pred=D;VEST3_score=0.298;CADD_raw=3.369;CADD_phred=22.9;DANN_score=0.996;fathmm-MKL_coding_score=0.948;fathmm-MKL_coding_pred=D;MetaSVM_score=0.511;MetaSVM_pred=D;MetaLR_score=0.708;MetaLR_pred=D;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=5.32;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.852;phastCons7way_vertebrate=0.995;phastCons20way_mammalian=0.995;SiPhy_29way_logOdds=18.996;GDI_full_10282015=.;dpsi_max_tissue=0.1045;dpsi_zscore=0.497;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.062e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=8.954e-06;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=7 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . 1:108:0,45 . . . . . . . . . . . . . . . . . . . . . . 7 128484816 129084;rs3734973 A G 200.00 . #_unique_end_positions=,35;#_unique_start_positions=,31;AC=20;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6082;AF_ESP_clinvar_20171029_hg19=,0.2807;AF_EXAC_clinvar_20171029_hg19=,0.23396;AF_TGP_clinvar_20171029_hg19=,0.3800;ALLELEID_clinvar_20171029_hg19=,134530;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2248;AN=20;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.09;CAF_dbsnp_common_v150_hg19_refseq=,0.62|0.38;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000007.13:g.128484816A>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001127487.1:c.3297A>G|_NM_001458.4:c.3297A>G;Coding_region_change_in_longest_transcript=,NM_001458.4:c.3297A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4891;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1551;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,80;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,FLNC:2318;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:2318;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:2318;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:3756;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:3756;Homo_sapiens_refseq_GRCh37.p13_Genes=,FLNC;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001127487.1|NM_001458.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene16860;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna24149|rna24148;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:102565;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:102565;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene16860;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,128484816;RS_dbsnp_common_v150_hg19_refseq=,3734973;Read_count=,56;Read_coverage=,125;Read_direction_test_probability=,0.9799001764062228;Read_position_test_probability=,0.7044593026339334;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001127487.1|NM_001458.4;Reverse_read_coverage=,45;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3006;SF=0,1,2,4,8,15,16,18,19,20,22,23,25,29,32,34,38,39,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.671955|0.328045;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05016800030517053f100100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.5;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.199115;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.463415;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.494118;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.267045;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.488372;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.459302;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.605556;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.26;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.356643;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.170455;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.597345;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.996;db_xref=,GeneID:2318|HGNC:HGNC:3756|MIM:102565;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001127487.1|Genbank:NM_001458.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,filamin_C;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,FLNC;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,FLNC;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ABP-280|ABP280A|ABPA|ABPL|CMH26|FLN2|MFM5|MPD4|RCM5;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,filamin_C|_transcript_variant_2|filamin_C|_transcript_variant_1;transcript_id=,NM_001127487.1|NM_001458.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon21:c.A3297G:p.V1099V,FLNC:NM_001458:exon21:c.A3297G:p.V1099V;cytoBand=7q32.1;genomicSuperDups=.;esp6500siv2_all=0.2807;esp6500siv2_ea=0.1648;esp6500siv2_all=0.2807;esp6500siv2_ea=0.1648;1000g2015aug_all=0.379992;avsnp147=rs3734973;Kaviar_AF=0.227856;Kaviar_AC=35227;Kaviar_AN=154602;ExAC_ALL=0.2340;ExAC_AFR=0.5526;ExAC_AMR=0.2237;ExAC_EAS=0.4585;ExAC_FIN=0.1367;ExAC_NFE=0.1635;ExAC_OTH=0.1982;ExAC_SAS=0.2604;CLNALLELEID=134530;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0144;dpsi_zscore=0.099;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2240;gnomAD_exome_AFR=0.5542;gnomAD_exome_AMR=0.2077;gnomAD_exome_ASJ=0.1311;gnomAD_exome_EAS=0.4601;gnomAD_exome_FIN=0.1384;gnomAD_exome_NFE=0.1643;gnomAD_exome_OTH=0.2014;gnomAD_exome_SAS=0.2574;gnomAD_genome_ALL=0.2941;gnomAD_genome_AFR=0.5591;gnomAD_genome_AMR=0.2208;gnomAD_genome_ASJ=0.1358;gnomAD_genome_EAS=0.4541;gnomAD_genome_FIN=0.1374;gnomAD_genome_NFE=0.1724;gnomAD_genome_OTH=0.2092;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:109:0,47 1:164:0,62 1:172:0,85 . 1:125:0,67 . . . 1:241:0,118 . . . . . . 1:221:0,113 1:219:0,111 . 1:165:0,80 1:170:0,73 1:216:0,114 . 1:308:0,151 1:275:0,133 . 1/1:173:0,173 . . . 1:242:0,107 . . 1:196:0,95 . 1:219:0,118 . . . 1:153:0,72 1:210:0,100 . 1:143:0,73 7 128485240 258141;rs146953558 C T 200.00 . #_unique_end_positions=,34;#_unique_start_positions=,29;AC=3;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0008;AF_ESP_clinvar_20171029_hg19=,0.0067;AF_EXAC_clinvar_20171029_hg19=,0.00629;AF_TGP_clinvar_20171029_hg19=,0.0020;ALLELEID_clinvar_20171029_hg19=,252593;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AN=3;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001120959.1:p.Arg1241Cys|_NP_001449.3:p.Arg1241Cys;Amino_acid_change_in_longest_transcript=,NP_001449.3:p.Arg1241Cys;BaseQRankSum=,-0.78;CAF_dbsnp_common_v150_hg19_refseq=,0.998|0.001997;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000007.13:g.128485240C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001127487.1:c.3721C>T|_NM_001458.4:c.3721C>T;Coding_region_change_in_longest_transcript=,NM_001458.4:c.3721C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0070;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,45;GENEINFO_dbsnp_common_v150_hg19_refseq=,FLNC:2318;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:2318;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:2318;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:3756;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:3756;Homo_sapiens_refseq_GRCh37.p13_Genes=,FLNC;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001127487.1|NM_001458.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene16860;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna24149|rna24148;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:102565;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:102565;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene16860;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,128485240;RS_dbsnp_common_v150_hg19_refseq=,146953558;Read_count=,56;Read_coverage=,134;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.5289448462138249;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001127487.1|NM_001458.4;Reverse_read_coverage=,89;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;SF=11,26,27;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.991655|0.00834535;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050028000a05040436000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:2318|HGNC:HGNC:3756|MIM:102565;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001127487.1|Genbank:NM_001458.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,filamin_C;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,FLNC;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,FLNC;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ABP-280|ABP280A|ABPA|ABPL|CMH26|FLN2|MFM5|MPD4|RCM5;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,filamin_C|_transcript_variant_2|filamin_C|_transcript_variant_1;transcript_id=,NM_001127487.1|NM_001458.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon21:c.C3721T:p.R1241C,FLNC:NM_001458:exon21:c.C3721T:p.R1241C;cytoBand=7q32.1;genomicSuperDups=.;esp6500siv2_all=0.0067;esp6500siv2_ea=0.0095;esp6500siv2_all=0.0067;esp6500siv2_ea=0.0095;1000g2015aug_all=0.00199681;avsnp147=rs146953558;Kaviar_AF=0.0064035;Kaviar_AC=990;Kaviar_AN=154602;ExAC_ALL=0.0063;ExAC_AFR=0.0012;ExAC_AMR=0.0011;ExAC_EAS=0.0003;ExAC_FIN=0.0108;ExAC_NFE=0.0092;ExAC_OTH=0.0078;ExAC_SAS=0.0024;CLNALLELEID=252593;CLNDN=Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.039;SIFT_pred=D;Polyphen2_HDIV_score=0.998;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.84;Polyphen2_HVAR_pred=P;LRT_score=0.001;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=2.155;MutationAssessor_pred=M;FATHMM_score=-2.89;FATHMM_pred=D;PROVEAN_score=-4.02;PROVEAN_pred=D;VEST3_score=0.579;CADD_raw=5.769;CADD_phred=27.0;DANN_score=0.999;fathmm-MKL_coding_score=0.632;fathmm-MKL_coding_pred=D;MetaSVM_score=0.668;MetaSVM_pred=D;MetaLR_score=0.789;MetaLR_pred=D;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=5.56;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.994;phastCons20way_mammalian=0.985;SiPhy_29way_logOdds=19.527;GDI_full_10282015=.;dpsi_max_tissue=0.0070;dpsi_zscore=0.047;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM152311#"Myopathy_myofibrillar";gnomAD_exome_ALL=0.0059;gnomAD_exome_AFR=0.0014;gnomAD_exome_AMR=0.0015;gnomAD_exome_ASJ=0.0005;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0.0114;gnomAD_exome_NFE=0.0093;gnomAD_exome_OTH=0.0038;gnomAD_exome_SAS=0.0023;gnomAD_genome_ALL=0.0078;gnomAD_genome_AFR=0.0011;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0135;gnomAD_genome_NFE=0.0117;gnomAD_genome_OTH=0.0092;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:DP:CLCAD2 . . . . . . . . . . . 1:118:0,47 . . . . . . . . . . . . . . 1:149:0,65 1:184:0,74 . . . . . . . . . . . . . . 7 128486052 . C T 200.00 . #_unique_end_positions=,30;#_unique_start_positions=,32;AC=1;AN=1;Amino_acid_change=,NP_001120959.1:p.Arg1267Trp|_NP_001449.3:p.Arg1267Trp;Amino_acid_change_in_longest_transcript=,NP_001449.3:p.Arg1267Trp;BaseQRankSum=,-0.67;Coding_region_change=,NM_001127487.1:c.3799C>T|_NM_001458.4:c.3799C>T;Coding_region_change_in_longest_transcript=,NM_001458.4:c.3799C>T;Forward_read_coverage=,76;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:2318;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:2318;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:3756;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:3756;Homo_sapiens_refseq_GRCh37.p13_Genes=,FLNC;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001127487.1|NM_001458.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene16860;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna24149|rna24148;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:102565;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:102565;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene16860;QUAL=,200.0;Read_count=,45;Read_coverage=,99;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.7992554967376169;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001127487.1|NM_001458.4;Reverse_read_coverage=,23;SF=26;conservation_score=,1.0;db_xref=,GeneID:2318|HGNC:HGNC:3756|MIM:102565;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001127487.1|Genbank:NM_001458.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,filamin_C;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,FLNC;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,FLNC;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ABP-280|ABP280A|ABPA|ABPL|CMH26|FLN2|MFM5|MPD4|RCM5;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,filamin_C|_transcript_variant_2|filamin_C|_transcript_variant_1;transcript_id=,NM_001127487.1|NM_001458.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon22:c.C3799T:p.R1267W,FLNC:NM_001458:exon22:c.C3799T:p.R1267W;cytoBand=7q32.1;genomicSuperDups=.;esp6500siv2_all=7.9e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=7.9e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=.;avsnp147=rs371483562;Kaviar_AF=3.88e-05;Kaviar_AC=6;Kaviar_AN=154602;ExAC_ALL=2.527e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0.0001;ExAC_FIN=0;ExAC_NFE=3.058e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.002;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=2.885;MutationAssessor_pred=M;FATHMM_score=-1.92;FATHMM_pred=D;PROVEAN_score=-5.53;PROVEAN_pred=D;VEST3_score=0.925;CADD_raw=8.168;CADD_phred=35;DANN_score=0.999;fathmm-MKL_coding_score=0.973;fathmm-MKL_coding_pred=D;MetaSVM_score=0.777;MetaSVM_pred=D;MetaLR_score=0.792;MetaLR_pred=D;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=5.07;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.841;phastCons7way_vertebrate=0.996;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=18.451;GDI_full_10282015=.;dpsi_max_tissue=-0.1705;dpsi_zscore=-0.626;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=2.037e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=8.939e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=5.809e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=8.992e-06;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=10 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . 1:86:0,38 . . . . . . . . . . . . . . . 7 128486091 129087;rs34180031 C T 200.00 . #_unique_end_positions=,37;#_unique_start_positions=,29;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0197;AF_ESP_clinvar_20171029_hg19=,0.0307;AF_EXAC_clinvar_20171029_hg19=,0.03326;AF_TGP_clinvar_20171029_hg19=,0.0198;ALLELEID_clinvar_20171029_hg19=,134533;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0115;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.2;CAF_dbsnp_common_v150_hg19_refseq=,0.9802|0.01977;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000007.13:g.128486091C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001127487.1:c.3838C>T|_NM_001458.4:c.3838C>T;Coding_region_change_in_longest_transcript=,NM_001458.4:c.3838C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0378;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,68;GENEINFO_dbsnp_common_v150_hg19_refseq=,FLNC:2318;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:2318;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:2318;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:3756;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:3756;Homo_sapiens_refseq_GRCh37.p13_Genes=,FLNC;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001127487.1|NM_001458.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene16860;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna24149|rna24148;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:102565;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:102565;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene16860;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,128486091;RS_dbsnp_common_v150_hg19_refseq=,34180031;Read_count=,50;Read_coverage=,104;Read_direction_test_probability=,0.8252906301391509;Read_position_test_probability=,0.8986394207460052;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001127487.1|NM_001458.4;Reverse_read_coverage=,36;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0276;SF=6;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.974964|0.0250361;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050168000305140536100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.432;db_xref=,GeneID:2318|HGNC:HGNC:3756|MIM:102565;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001127487.1|Genbank:NM_001458.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,filamin_C;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,FLNC;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,FLNC;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ABP-280|ABP280A|ABPA|ABPL|CMH26|FLN2|MFM5|MPD4|RCM5;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,filamin_C|_transcript_variant_2|filamin_C|_transcript_variant_1;transcript_id=,NM_001127487.1|NM_001458.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon22:c.C3838T:p.L1280L,FLNC:NM_001458:exon22:c.C3838T:p.L1280L;cytoBand=7q32.1;genomicSuperDups=.;esp6500siv2_all=0.0307;esp6500siv2_ea=0.0345;esp6500siv2_all=0.0307;esp6500siv2_ea=0.0345;1000g2015aug_all=0.0197684;avsnp147=rs34180031;Kaviar_AF=0.0322117;Kaviar_AC=4980;Kaviar_AN=154602;ExAC_ALL=0.0333;ExAC_AFR=0.0238;ExAC_AMR=0.0097;ExAC_EAS=0.0002;ExAC_FIN=0.0710;ExAC_NFE=0.0398;ExAC_OTH=0.025;ExAC_SAS=0.0316;CLNALLELEID=134533;CLNDN=Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0254;dpsi_zscore=-0.138;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0326;gnomAD_exome_AFR=0.0250;gnomAD_exome_AMR=0.0106;gnomAD_exome_ASJ=0.0205;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0.0759;gnomAD_exome_NFE=0.0386;gnomAD_exome_OTH=0.0291;gnomAD_exome_SAS=0.0303;gnomAD_genome_ALL=0.0391;gnomAD_genome_AFR=0.0263;gnomAD_genome_AMR=0.0167;gnomAD_genome_ASJ=0.0267;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0684;gnomAD_genome_NFE=0.0448;gnomAD_genome_OTH=0.0480;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-10 GT:DP:CLCAD2 . . . . . . 1:93:0,45 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 7 128486363 129088;rs34373805 C T 200.00 . #_unique_end_positions=,54;#_unique_start_positions=,35;AC=17;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6006;AF_ESP_clinvar_20171029_hg19=,0.2836;AF_EXAC_clinvar_20171029_hg19=,0.22903;AF_TGP_clinvar_20171029_hg19=,0.3461;ALLELEID_clinvar_20171029_hg19=,134534;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2291;AN=17;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.51;CAF_dbsnp_common_v150_hg19_refseq=,0.654|0.346;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000007.13:g.128486363C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001127487.1:c.3973C>T|_NM_001458.4:c.3973C>T;Coding_region_change_in_longest_transcript=,NM_001458.4:c.3973C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4335;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1511;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,91;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,FLNC:2318;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:2318;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:2318;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:3756;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:3756;Homo_sapiens_refseq_GRCh37.p13_Genes=,FLNC;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001127487.1|NM_001458.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene16860;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna24149|rna24148;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:102565;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:102565;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene16860;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,128486363;RS_dbsnp_common_v150_hg19_refseq=,34373805;Read_count=,75;Read_coverage=,160;Read_direction_test_probability=,0.9881145102079402;Read_position_test_probability=,0.8610769019119087;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001127487.1|NM_001458.4;Reverse_read_coverage=,69;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1953;SF=1,2,4,6,15,16,18,20,22,23,25,29,32,34,38,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.672471|0.327529;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05016800030517053e100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.425;db_xref=,GeneID:2318|HGNC:HGNC:3756|MIM:102565;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001127487.1|Genbank:NM_001458.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,filamin_C;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,FLNC;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,FLNC;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ABP-280|ABP280A|ABPA|ABPL|CMH26|FLN2|MFM5|MPD4|RCM5;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,filamin_C|_transcript_variant_2|filamin_C|_transcript_variant_1;transcript_id=,NM_001127487.1|NM_001458.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon23:c.C3973T:p.L1325L,FLNC:NM_001458:exon23:c.C3973T:p.L1325L;cytoBand=7q32.1;genomicSuperDups=.;esp6500siv2_all=0.2836;esp6500siv2_ea=0.1622;esp6500siv2_all=0.2836;esp6500siv2_ea=0.1622;1000g2015aug_all=0.346046;avsnp147=rs34373805;Kaviar_AF=0.221077;Kaviar_AC=34179;Kaviar_AN=154602;ExAC_ALL=0.2290;ExAC_AFR=0.5497;ExAC_AMR=0.2241;ExAC_EAS=0.4184;ExAC_FIN=0.1685;ExAC_NFE=0.1711;ExAC_OTH=0.1993;ExAC_SAS=0.2018;CLNALLELEID=134534;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.2035;dpsi_zscore=-0.694;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2183;gnomAD_exome_AFR=0.5511;gnomAD_exome_AMR=0.2083;gnomAD_exome_ASJ=0.1472;gnomAD_exome_EAS=0.4233;gnomAD_exome_FIN=0.1691;gnomAD_exome_NFE=0.1667;gnomAD_exome_OTH=0.1959;gnomAD_exome_SAS=0.1988;gnomAD_genome_ALL=0.2939;gnomAD_genome_AFR=0.5552;gnomAD_genome_AMR=0.2184;gnomAD_genome_ASJ=0.1623;gnomAD_genome_EAS=0.4122;gnomAD_genome_FIN=0.1621;gnomAD_genome_NFE=0.1717;gnomAD_genome_OTH=0.2235;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . 1:146:0,67 1:131:0,57 . 1:84:0,36 . 1:134:0,57 . . . . . . . . 1:159:0,74 1:119:0,63 . 1:136:0,63 . 1:147:0,82 . 1:234:0,107 1:196:0,99 . 1/1:134:0,134 . . . 1:189:0,90 . . 1:160:0,66 . 1:148:0,83 . . . 1:131:0,54 . . 1:131:0,51 7 128486446 129089;rs75770585 C T 200.00 . #_unique_end_positions=,53;#_unique_start_positions=,49;AC=5;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2012;AF_ESP_clinvar_20171029_hg19=,0.0795;AF_EXAC_clinvar_20171029_hg19=,0.08948;AF_TGP_clinvar_20171029_hg19=,0.1605;ALLELEID_clinvar_20171029_hg19=,134535;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1354;AN=5;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.28;CAF_dbsnp_common_v150_hg19_refseq=,0.8395|0.1605;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000007.13:g.128486446C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001127487.1:c.4056C>T|_NM_001458.4:c.4056C>T;Coding_region_change_in_longest_transcript=,NM_001458.4:c.4056C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3234;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0328;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,87;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,FLNC:2318;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:2318;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:2318;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:3756;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:3756;Homo_sapiens_refseq_GRCh37.p13_Genes=,FLNC;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001127487.1|NM_001458.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene16860;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna24149|rna24148;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:102565;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:102565;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene16860;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,128486446;RS_dbsnp_common_v150_hg19_refseq=,75770585;Read_count=,88;Read_coverage=,184;Read_direction_test_probability=,0.9996951641883886;Read_position_test_probability=,0.9094344343512858;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001127487.1|NM_001458.4;Reverse_read_coverage=,97;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0869;SF=1,16,20,25,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.900955|0.0990453;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050168000305150436100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.014;db_xref=,GeneID:2318|HGNC:HGNC:3756|MIM:102565;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001127487.1|Genbank:NM_001458.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,filamin_C;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,FLNC;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,FLNC;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ABP-280|ABP280A|ABPA|ABPL|CMH26|FLN2|MFM5|MPD4|RCM5;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,filamin_C|_transcript_variant_2|filamin_C|_transcript_variant_1;transcript_id=,NM_001127487.1|NM_001458.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon23:c.C4056T:p.R1352R,FLNC:NM_001458:exon23:c.C4056T:p.R1352R;cytoBand=7q32.1;genomicSuperDups=.;esp6500siv2_all=0.0795;esp6500siv2_ea=0.0401;esp6500siv2_all=0.0795;esp6500siv2_ea=0.0401;1000g2015aug_all=0.160543;avsnp147=rs75770585;Kaviar_AF=0.0846626;Kaviar_AC=13089;Kaviar_AN=154602;ExAC_ALL=0.0895;ExAC_AFR=0.1731;ExAC_AMR=0.1647;ExAC_EAS=0.3258;ExAC_FIN=0.0234;ExAC_NFE=0.0420;ExAC_OTH=0.0709;ExAC_SAS=0.0835;CLNALLELEID=134535;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0858;dpsi_zscore=-0.404;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0882;gnomAD_exome_AFR=0.1730;gnomAD_exome_AMR=0.1472;gnomAD_exome_ASJ=0.0183;gnomAD_exome_EAS=0.3274;gnomAD_exome_FIN=0.0266;gnomAD_exome_NFE=0.0409;gnomAD_exome_OTH=0.0703;gnomAD_exome_SAS=0.0847;gnomAD_genome_ALL=0.0947;gnomAD_genome_AFR=0.1798;gnomAD_genome_AMR=0.1289;gnomAD_genome_ASJ=0.0199;gnomAD_genome_EAS=0.3098;gnomAD_genome_FIN=0.0263;gnomAD_genome_NFE=0.0396;gnomAD_genome_OTH=0.0643;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . 1:168:0,80 . . . . . . . . . . . . . . 1:133:0,69 . . . 1:157:0,79 . . . . 1:136:0,76 . . . . . . . . . . . . . . . 1:121:0,50 7 128487866 226641;rs2249128 T C 179.64 . #_unique_end_positions=,58;#_unique_start_positions=,56;AC=84;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9675;ALLELEID_clinvar_20171029_hg19=,229552;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9957;AN=84;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;CAF_dbsnp_common_v150_hg19_refseq=,0.009385|0.9906;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000007.13:g.128487866T>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001127487.1:c.4404T>C|_NM_001458.4:c.4404T>C;Coding_region_change_in_longest_transcript=,NM_001458.4:c.4404T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,1.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9990;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,89;GENEINFO_dbsnp_common_v150_hg19_refseq=,FLNC:2318;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:2318;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:2318;Genotype=,C/C;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:3756;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:3756;Homo_sapiens_refseq_GRCh37.p13_Genes=,FLNC;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001127487.1|NM_001458.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene16860;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna24149|rna24148;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:102565;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:102565;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene16860;QUAL=,156.53559774527022;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,128487866;RS_dbsnp_common_v150_hg19_refseq=,2249128;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,121;Read_coverage=,121;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001127487.1|NM_001458.4;Reverse_read_coverage=,32;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,1.0000;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.0135998|0.9864;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05012800030504053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,1;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,1;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,1;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.966667;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:2318|HGNC:HGNC:3756|MIM:102565;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001127487.1|Genbank:NM_001458.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,filamin_C;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,FLNC;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,FLNC;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ABP-280|ABP280A|ABPA|ABPL|CMH26|FLN2|MFM5|MPD4|RCM5;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,filamin_C|_transcript_variant_2|filamin_C|_transcript_variant_1;transcript_id=,NM_001127487.1|NM_001458.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon25:c.T4404C:p.D1468D,FLNC:NM_001458:exon25:c.T4404C:p.D1468D;cytoBand=7q32.1;genomicSuperDups=.;esp6500siv2_all=0.9913;esp6500siv2_ea=1;esp6500siv2_all=0.9913;esp6500siv2_ea=1;1000g2015aug_all=0.990615;avsnp147=rs2249128;Kaviar_AF=0.942122;Kaviar_AC=145654;Kaviar_AN=154602;ExAC_ALL=0.9973;ExAC_AFR=0.9695;ExAC_AMR=0.9987;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9999;ExAC_OTH=0.9989;ExAC_SAS=0.9999;CLNALLELEID=229552;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.5013;dpsi_zscore=1.134;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.9978;gnomAD_exome_AFR=0.9688;gnomAD_exome_AMR=0.9989;gnomAD_exome_ASJ=1;gnomAD_exome_EAS=1;gnomAD_exome_FIN=1;gnomAD_exome_NFE=0.9999;gnomAD_exome_OTH=0.9984;gnomAD_exome_SAS=0.9999;gnomAD_genome_ALL=0.9915;gnomAD_genome_AFR=0.9704;gnomAD_genome_AMR=0.9952;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=1;gnomAD_genome_FIN=1;gnomAD_genome_NFE=0.9999;gnomAD_genome_OTH=1;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1/1:109:0,109 1/1:193:0,193 1/1:182:0,182 1/1:221:0,221 1/1:149:0,149 1/1:222:0,222 1/1:169:0,169 1/1:230:0,230 1/1:227:0,227 1/1:193:0,193 1/1:244:0,244 1/1:240:0,240 1/1:242:0,242 1/1:228:0,228 1/1:292:0,292 1/1:258:0,258 1/1:237:0,237 1/1:230:0,230 1/1:192:0,192 1/1:221:0,221 1/1:228:0,227 1/1:190:0,190 1/1:314:0,313 1/1:274:0,274 1/1:232:0,232 1/1:190:0,190 1/1:224:0,224 1/1:277:0,277 1/1:260:0,260 1/1:255:0,255 1/1:242:0,242 1/1:138:0,138 1/1:232:0,232 1/1:211:0,211 1/1:217:0,217 1/1:224:0,224 1/1:197:0,197 1/1:184:0,184 1/1:153:0,153 1/1:202:0,202 1/1:242:0,242 1/1:208:0,208 7 128487893 129090;rs2291568 G A 200.00 . #_unique_end_positions=,38;#_unique_start_positions=,34;AC=6;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4228;AF_ESP_clinvar_20171029_hg19=,0.1418;AF_EXAC_clinvar_20171029_hg19=,0.12297;AF_TGP_clinvar_20171029_hg19=,0.2578;ALLELEID_clinvar_20171029_hg19=,134536;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1556;AN=6;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.7422|0.2578;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000007.13:g.128487893G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001127487.1:c.4431G>A|_NM_001458.4:c.4431G>A;Coding_region_change_in_longest_transcript=,NM_001458.4:c.4431G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3780;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0358;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,116;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,FLNC:2318;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:2318;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:2318;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:3756;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:3756;Homo_sapiens_refseq_GRCh37.p13_Genes=,FLNC;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001127487.1|NM_001458.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene16860;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna24149|rna24148;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:102565;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:102565;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene16860;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,128487893;RS_dbsnp_common_v150_hg19_refseq=,2291568;Read_count=,70;Read_coverage=,153;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9693472189487761;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001127487.1|NM_001458.4;Reverse_read_coverage=,37;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2117;SF=1,8,16,20,25,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.808538|0.191462;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05016800030515053f100100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.34375;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.037037;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.333333;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.201149;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.383721;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.345238;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.322222;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.163265;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.0454545;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.441964;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:2318|HGNC:HGNC:3756|MIM:102565;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001127487.1|Genbank:NM_001458.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,filamin_C;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,FLNC;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,FLNC;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ABP-280|ABP280A|ABPA|ABPL|CMH26|FLN2|MFM5|MPD4|RCM5;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,filamin_C|_transcript_variant_2|filamin_C|_transcript_variant_1;transcript_id=,NM_001127487.1|NM_001458.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon25:c.G4431A:p.L1477L,FLNC:NM_001458:exon25:c.G4431A:p.L1477L;cytoBand=7q32.1;genomicSuperDups=.;esp6500siv2_all=0.1418;esp6500siv2_ea=0.0433;esp6500siv2_all=0.1418;esp6500siv2_ea=0.0433;1000g2015aug_all=0.257788;avsnp147=rs2291568;Kaviar_AF=0.115917;Kaviar_AC=17921;Kaviar_AN=154602;ExAC_ALL=0.1230;ExAC_AFR=0.3780;ExAC_AMR=0.1746;ExAC_EAS=0.3610;ExAC_FIN=0.0235;ExAC_NFE=0.0446;ExAC_OTH=0.0874;ExAC_SAS=0.1700;CLNALLELEID=134536;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.5530;dpsi_zscore=1.185;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1168;gnomAD_exome_AFR=0.3809;gnomAD_exome_AMR=0.1578;gnomAD_exome_ASJ=0.0183;gnomAD_exome_EAS=0.3611;gnomAD_exome_FIN=0.0271;gnomAD_exome_NFE=0.0439;gnomAD_exome_OTH=0.0881;gnomAD_exome_SAS=0.1696;gnomAD_genome_ALL=0.1587;gnomAD_genome_AFR=0.3920;gnomAD_genome_AMR=0.1444;gnomAD_genome_ASJ=0.0199;gnomAD_genome_EAS=0.3449;gnomAD_genome_FIN=0.0263;gnomAD_genome_NFE=0.0428;gnomAD_genome_OTH=0.0808;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . 1:148:0,67 . . . . . . 1:171:0,76 . . . . . . . 1:191:0,96 . . . 1:171:0,76 . . . . 1:145:0,68 . . . . . . . . . . . . . . . 1:178:0,96 7 128488734 129091;rs2291569 G A 200.00 . #_unique_end_positions=,47;#_unique_start_positions=,46;AC=10;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0106;AF_ESP_clinvar_20171029_hg19=,0.0650;AF_EXAC_clinvar_20171029_hg19=,0.07638;AF_TGP_clinvar_20171029_hg19=,0.0625;ALLELEID_clinvar_20171029_hg19=,134537;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0447;AN=10;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001449.3:p.Arg1567Gln|_NP_001120959.1:p.Arg1567Gln;Amino_acid_change_in_longest_transcript=,NP_001449.3:p.Arg1567Gln;BaseQRankSum=,-0.55;CAF_dbsnp_common_v150_hg19_refseq=,0.9375|0.0625|.;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000007.13:g.128488734G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,UniProtKB_(protein):Q14315#VAR_015705;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001127487.1:c.4700G>A|_NM_001458.4:c.4700G>A;Coding_region_change_in_longest_transcript=,NM_001458.4:c.4700G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1111;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0765;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,120;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,FLNC:2318;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:2318;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:2318;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:3756;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:3756;Homo_sapiens_refseq_GRCh37.p13_Genes=,FLNC;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001127487.1|NM_001458.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene16860;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna24149|rna24148;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:102565;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:102565;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene16860;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,128488734;RS_dbsnp_common_v150_hg19_refseq=,2291569;Read_count=,90;Read_coverage=,190;Read_direction_test_probability=,0.9955456643969637;Read_position_test_probability=,0.8942406956096688;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001127487.1|NM_001458.4;Reverse_read_coverage=,70;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0808;SF=2,4,15,18,22,23,25,29,34,38;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.945189|0.0548115|.;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050168000a0515053f100101;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.1;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.147727;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.995;db_xref=,GeneID:2318|HGNC:HGNC:3756|MIM:102565;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001127487.1|Genbank:NM_001458.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,filamin_C;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,FLNC;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,FLNC;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ABP-280|ABP280A|ABPA|ABPL|CMH26|FLN2|MFM5|MPD4|RCM5;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,filamin_C|_transcript_variant_2|filamin_C|_transcript_variant_1;transcript_id=,NM_001127487.1|NM_001458.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon27:c.G4700A:p.R1567Q,FLNC:NM_001458:exon27:c.G4700A:p.R1567Q;cytoBand=7q32.1;genomicSuperDups=.;esp6500siv2_all=0.0650;esp6500siv2_ea=0.0850;esp6500siv2_all=0.0650;esp6500siv2_ea=0.0850;1000g2015aug_all=0.0625;avsnp147=rs2291569;Kaviar_AF=0.0760145;Kaviar_AC=11752;Kaviar_AN=154602;ExAC_ALL=0.0764;ExAC_AFR=0.0198;ExAC_AMR=0.0342;ExAC_EAS=0.0959;ExAC_FIN=0.0702;ExAC_NFE=0.0879;ExAC_OTH=0.0802;ExAC_SAS=0.0848;CLNALLELEID=134537;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.067;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.997;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.001;MutationTaster_pred=P;MutationAssessor_score=3.075;MutationAssessor_pred=M;FATHMM_score=-2.08;FATHMM_pred=D;PROVEAN_score=-2.11;PROVEAN_pred=N;VEST3_score=0.197;CADD_raw=4.924;CADD_phred=25.0;DANN_score=0.999;fathmm-MKL_coding_score=0.841;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.467;MetaSVM_pred=T;MetaLR_score=0.088;MetaLR_pred=T;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=5.09;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.530;phastCons20way_mammalian=0.015;SiPhy_29way_logOdds=12.724;GDI_full_10282015=.;dpsi_max_tissue=-0.4101;dpsi_zscore=-0.995;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0746;gnomAD_exome_AFR=0.0186;gnomAD_exome_AMR=0.0341;gnomAD_exome_ASJ=0.1085;gnomAD_exome_EAS=0.0973;gnomAD_exome_FIN=0.0679;gnomAD_exome_NFE=0.0866;gnomAD_exome_OTH=0.0828;gnomAD_exome_SAS=0.0824;gnomAD_genome_ALL=0.0673;gnomAD_genome_AFR=0.0214;gnomAD_genome_AMR=0.0430;gnomAD_genome_ASJ=0.1093;gnomAD_genome_EAS=0.1063;gnomAD_genome_FIN=0.0675;gnomAD_genome_NFE=0.0886;gnomAD_genome_OTH=0.0927;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . 1:168:0,81 . 1:147:0,71 . . . . . . . . . . 1:197:0,97 . . 1:158:0,73 . . . 1:273:0,114 1:226:0,111 . 1:155:0,76 . . . 1:196:0,96 . . . . 1:183:0,89 . . . 1:161:0,59 . . . 7 128491324 196888;rs181067717 C T 200.00 . #_unique_end_positions=,42;#_unique_start_positions=,37;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0046;AF_EXAC_clinvar_20171029_hg19=,0.00536;AF_TGP_clinvar_20171029_hg19=,0.0022;ALLELEID_clinvar_20171029_hg19=,194049;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0086;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001120959.1:p.Arg1827Cys|_NP_001449.3:p.Arg1860Cys;Amino_acid_change_in_longest_transcript=,NP_001449.3:p.Arg1860Cys;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.9978|0.002196;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000007.13:g.128491324C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001127487.1:c.5479C>T|_NM_001458.4:c.5578C>T;Coding_region_change_in_longest_transcript=,NM_001458.4:c.5578C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0050;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,97;GENEINFO_dbsnp_common_v150_hg19_refseq=,FLNC:2318;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:2318;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:2318;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:3756;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:3756;Homo_sapiens_refseq_GRCh37.p13_Genes=,FLNC;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001127487.1|NM_001458.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene16860;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna24149|rna24148;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:102565;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:102565;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene16860;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,128491324;RS_dbsnp_common_v150_hg19_refseq=,181067717;Read_count=,72;Read_coverage=,150;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.8790206190794687;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001127487.1|NM_001458.4;Reverse_read_coverage=,53;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=32;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.996016|0.00398379;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050028000a05040436000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:2318|HGNC:HGNC:3756|MIM:102565;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001127487.1|Genbank:NM_001458.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,filamin_C;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,FLNC;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,FLNC;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ABP-280|ABP280A|ABPA|ABPL|CMH26|FLN2|MFM5|MPD4|RCM5;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,filamin_C|_transcript_variant_2|filamin_C|_transcript_variant_1;transcript_id=,NM_001127487.1|NM_001458.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon33:c.C5479T:p.R1827C,FLNC:NM_001458:exon34:c.C5578T:p.R1860C;cytoBand=7q32.1;genomicSuperDups=.;esp6500siv2_all=0.0046;esp6500siv2_ea=0.0062;esp6500siv2_all=0.0046;esp6500siv2_ea=0.0062;1000g2015aug_all=0.00219649;avsnp147=rs181067717;Kaviar_AF=0.0051487;Kaviar_AC=796;Kaviar_AN=154602;ExAC_ALL=0.0054;ExAC_AFR=0.0007;ExAC_AMR=0.0047;ExAC_EAS=0.0001;ExAC_FIN=0.0015;ExAC_NFE=0.0083;ExAC_OTH=0.0033;ExAC_SAS=0.0012;CLNALLELEID=194049;CLNDN=Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.005;SIFT_pred=D;Polyphen2_HDIV_score=0.987;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.67;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=1.24;MutationAssessor_pred=L;FATHMM_score=0.92;FATHMM_pred=T;PROVEAN_score=-2.14;PROVEAN_pred=N;VEST3_score=0.604;CADD_raw=7.479;CADD_phred=34;DANN_score=0.999;fathmm-MKL_coding_score=0.823;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.982;MetaSVM_pred=T;MetaLR_score=0.094;MetaLR_pred=T;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=4.75;phyloP7way_vertebrate=-0.040;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=11.237;GDI_full_10282015=.;dpsi_max_tissue=0.0738;dpsi_zscore=0.396;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM1618129#"Inflammatory_bowel_disease_association_with";gnomAD_exome_ALL=0.0053;gnomAD_exome_AFR=0.0009;gnomAD_exome_AMR=0.0058;gnomAD_exome_ASJ=0.0069;gnomAD_exome_EAS=5.799e-05;gnomAD_exome_FIN=0.0011;gnomAD_exome_NFE=0.0084;gnomAD_exome_OTH=0.0037;gnomAD_exome_SAS=0.0012;gnomAD_genome_ALL=0.0041;gnomAD_genome_AFR=0.0014;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0017;gnomAD_genome_NFE=0.0068;gnomAD_genome_OTH=0.0031;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-5 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:131:0,63 . . . . . . . . . 7 128491603 129094;rs3816884 T C 200.00 . #_unique_end_positions=,30;#_unique_start_positions=,29;AC=7;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5340;AF_ESP_clinvar_20171029_hg19=,0.1862;AF_EXAC_clinvar_20171029_hg19=,0.13238;AF_TGP_clinvar_20171029_hg19=,0.2889;ALLELEID_clinvar_20171029_hg19=,134540;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1671;AN=7;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.7111|0.2889;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000007.13:g.128491603T>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001127487.1:c.5664T>C|_NM_001458.4:c.5763T>C;Coding_region_change_in_longest_transcript=,NM_001458.4:c.5763T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3780;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0368;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,50;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,FLNC:2318;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:2318;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:2318;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:3756;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:3756;Homo_sapiens_refseq_GRCh37.p13_Genes=,FLNC;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001127487.1|NM_001458.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene16860;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna24149|rna24148;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:102565;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:102565;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene16860;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,128491603;RS_dbsnp_common_v150_hg19_refseq=,3816884;Read_count=,65;Read_coverage=,144;Read_direction_test_probability=,0.9552627451760042;Read_position_test_probability=,0.5692092485609637;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001127487.1|NM_001458.4;Reverse_read_coverage=,94;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2117;SF=1,8,16,20,25,32,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.764441|0.235559;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05016800030515053f100100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.408163;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.039823;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.329268;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.376471;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.204545;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.383721;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.343023;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.427778;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.15;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.244755;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.0454545;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.544248;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.011;db_xref=,GeneID:2318|HGNC:HGNC:3756|MIM:102565;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001127487.1|Genbank:NM_001458.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,filamin_C;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,FLNC;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,FLNC;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ABP-280|ABP280A|ABPA|ABPL|CMH26|FLN2|MFM5|MPD4|RCM5;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,filamin_C|_transcript_variant_2|filamin_C|_transcript_variant_1;transcript_id=,NM_001127487.1|NM_001458.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon34:c.T5664C:p.T1888T,FLNC:NM_001458:exon35:c.T5763C:p.T1921T;cytoBand=7q32.1;genomicSuperDups=.;esp6500siv2_all=0.1861;esp6500siv2_ea=0.0448;esp6500siv2_all=0.1861;esp6500siv2_ea=0.0448;1000g2015aug_all=0.288938;avsnp147=rs3816884;Kaviar_AF=0.126001;Kaviar_AC=19480;Kaviar_AN=154602;ExAC_ALL=0.1324;ExAC_AFR=0.4734;ExAC_AMR=0.1791;ExAC_EAS=0.3609;ExAC_FIN=0.0230;ExAC_NFE=0.0448;ExAC_OTH=0.0938;ExAC_SAS=0.1695;CLNALLELEID=134540;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.3520;dpsi_zscore=0.962;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1235;gnomAD_exome_AFR=0.4741;gnomAD_exome_AMR=0.1633;gnomAD_exome_ASJ=0.0184;gnomAD_exome_EAS=0.3611;gnomAD_exome_FIN=0.0269;gnomAD_exome_NFE=0.0443;gnomAD_exome_OTH=0.0926;gnomAD_exome_SAS=0.1695;gnomAD_genome_ALL=0.1858;gnomAD_genome_AFR=0.4853;gnomAD_genome_AMR=0.1563;gnomAD_genome_ASJ=0.0232;gnomAD_genome_EAS=0.3465;gnomAD_genome_FIN=0.0263;gnomAD_genome_NFE=0.0431;gnomAD_genome_OTH=0.0845;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . 1:118:0,54 . . . . . . 1:159:0,87 . . . . . . . 1:166:0,92 . . . 1:198:0,105 . . . . 1:129:0,60 . . . . . . 1:133:0,63 . . . . . . . . 1:135:0,75 7 128493866 197064;rs113618587 C T 200.00 . #_unique_end_positions=,55;#_unique_start_positions=,49;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0008;AF_ESP_clinvar_20171029_hg19=,0.0011;AF_EXAC_clinvar_20171029_hg19=,0.00912;AF_TGP_clinvar_20171029_hg19=,0.0242;ALLELEID_clinvar_20171029_hg19=,194225;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.41;CAF_dbsnp_common_v150_hg19_refseq=,0.9758|.|.|0.02416;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000007.13:g.128493866C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001127487.1:c.6360C>T|_NM_001458.4:c.6459C>T;Coding_region_change_in_longest_transcript=,NM_001458.4:c.6459C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0357;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,118;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,FLNC:2318;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:2318;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:2318;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:3756;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:3756;Homo_sapiens_refseq_GRCh37.p13_Genes=,FLNC;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001127487.1|NM_001458.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene16860;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna24149|rna24148;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:102565;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:102565;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene16860;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,128493866;RS_dbsnp_common_v150_hg19_refseq=,113618587;Read_count=,86;Read_coverage=,182;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9967172394006949;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001127487.1|NM_001458.4;Reverse_read_coverage=,64;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0859;SF=8;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.999244|.|.|0.000755546;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128000305150536000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:2318|HGNC:HGNC:3756|MIM:102565;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001127487.1|Genbank:NM_001458.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,filamin_C;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,FLNC;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,FLNC;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ABP-280|ABP280A|ABPA|ABPL|CMH26|FLN2|MFM5|MPD4|RCM5;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,filamin_C|_transcript_variant_2|filamin_C|_transcript_variant_1;transcript_id=,NM_001127487.1|NM_001458.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon38:c.C6360T:p.T2120T,FLNC:NM_001458:exon39:c.C6459T:p.T2153T;cytoBand=7q32.1;genomicSuperDups=.;esp6500siv2_all=0.0011;esp6500siv2_ea=0.0015;esp6500siv2_all=0.0011;esp6500siv2_ea=0.0015;1000g2015aug_all=0.0241613;avsnp147=rs113618587;Kaviar_AF=0.0085122;Kaviar_AC=1316;Kaviar_AN=154602;ExAC_ALL=0.0091;ExAC_AFR=0.0005;ExAC_AMR=0.0012;ExAC_EAS=0.0178;ExAC_FIN=0;ExAC_NFE=0.0012;ExAC_OTH=0.0056;ExAC_SAS=0.0507;CLNALLELEID=194225;CLNDN=Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.3935;dpsi_zscore=-0.976;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0083;gnomAD_exome_AFR=0.0005;gnomAD_exome_AMR=0.0009;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0.0171;gnomAD_exome_FIN=4.487e-05;gnomAD_exome_NFE=0.0012;gnomAD_exome_OTH=0.0049;gnomAD_exome_SAS=0.0504;gnomAD_genome_ALL=0.0017;gnomAD_genome_AFR=0.0007;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0.0166;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0011;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-10 GT:DP:CLCAD2 . . . . . . . . 1:182:0,86 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 7 128494547 rs202223616 G A 200.00 . #_unique_end_positions=,76;#_unique_start_positions=,70;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AN=1;Amino_acid_change=,NP_001449.3:p.Glu2270Lys|_NP_001120959.1:p.Glu2237Lys;Amino_acid_change_in_longest_transcript=,NP_001449.3:p.Glu2270Lys;BaseQRankSum=,-0.01;Coding_region_change=,NM_001127487.1:c.6709G>A|_NM_001458.4:c.6808G>A;Coding_region_change_in_longest_transcript=,NM_001458.4:c.6808G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;Exact_match=,1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,234;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:2318;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:2318;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:3756;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:3756;Homo_sapiens_refseq_GRCh37.p13_Genes=,FLNC;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001127487.1|NM_001458.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene16860;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna24149|rna24148;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:102565;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:102565;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene16860;QUAL=,200.0;Read_count=,177;Read_coverage=,362;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9907453202624067;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001127487.1|NM_001458.4;Reverse_read_coverage=,128;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=28;conservation_score=,0.994;db_xref=,GeneID:2318|HGNC:HGNC:3756|MIM:102565;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001127487.1|Genbank:NM_001458.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,filamin_C;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,FLNC;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,FLNC;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ABP-280|ABP280A|ABPA|ABPL|CMH26|FLN2|MFM5|MPD4|RCM5;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,filamin_C|_transcript_variant_2|filamin_C|_transcript_variant_1;transcript_id=,NM_001127487.1|NM_001458.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon40:c.G6709A:p.E2237K,FLNC:NM_001458:exon41:c.G6808A:p.E2270K;cytoBand=7q32.1;genomicSuperDups=.;esp6500siv2_all=0.0006;esp6500siv2_ea=0.0009;esp6500siv2_all=0.0006;esp6500siv2_ea=0.0009;1000g2015aug_all=0.000199681;avsnp147=rs202223616;Kaviar_AF=0.0006856;Kaviar_AC=106;Kaviar_AN=154602;ExAC_ALL=0.0009;ExAC_AFR=0.0001;ExAC_AMR=0.0002;ExAC_EAS=0;ExAC_FIN=0.0028;ExAC_NFE=0.0014;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=444062;CLNDN=Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.94;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.535;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=0.765;MutationAssessor_pred=N;FATHMM_score=-1.9;FATHMM_pred=D;PROVEAN_score=-2.44;PROVEAN_pred=N;VEST3_score=0.355;CADD_raw=4.209;CADD_phred=23.9;DANN_score=0.996;fathmm-MKL_coding_score=0.980;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.280;MetaSVM_pred=T;MetaLR_score=0.457;MetaLR_pred=T;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=4.99;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.949;phastCons7way_vertebrate=0.996;phastCons20way_mammalian=0.995;SiPhy_29way_logOdds=18.285;GDI_full_10282015=.;dpsi_max_tissue=-0.0082;dpsi_zscore=-0.025;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0007;gnomAD_exome_AFR=0.0002;gnomAD_exome_AMR=0.0003;gnomAD_exome_ASJ=0.0001;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0016;gnomAD_exome_NFE=0.0011;gnomAD_exome_OTH=0.0012;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0008;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0011;gnomAD_genome_NFE=0.0014;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:335:0,162 . . . . . . . . . . . . . 7 128494603 . C T 200.00 . #_unique_end_positions=,88;#_unique_start_positions=,74;AC=1;AN=1;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.27;Coding_region_change=,NM_001127487.1:c.6765C>T|_NM_001458.4:c.6864C>T;Coding_region_change_in_longest_transcript=,NM_001458.4:c.6864C>T;Forward_read_coverage=,216;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:2318;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:2318;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:3756;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:3756;Homo_sapiens_refseq_GRCh37.p13_Genes=,FLNC;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001127487.1|NM_001458.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene16860;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna24149|rna24148;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:102565;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:102565;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene16860;QUAL=,200.0;Read_count=,183;Read_coverage=,348;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9390024720493916;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001127487.1|NM_001458.4;Reverse_read_coverage=,132;SF=10;conservation_score=,0.055;db_xref=,GeneID:2318|HGNC:HGNC:3756|MIM:102565;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001127487.1|Genbank:NM_001458.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,filamin_C;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,FLNC;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,FLNC;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ABP-280|ABP280A|ABPA|ABPL|CMH26|FLN2|MFM5|MPD4|RCM5;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,filamin_C|_transcript_variant_2|filamin_C|_transcript_variant_1;transcript_id=,NM_001127487.1|NM_001458.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon40:c.C6765T:p.V2255V,FLNC:NM_001458:exon41:c.C6864T:p.V2288V;cytoBand=7q32.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs761269440;Kaviar_AF=3.23e-05;Kaviar_AC=5;Kaviar_AN=154602;ExAC_ALL=4.738e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0.0003;ExAC_NFE=6.227e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=522553;CLNDN=Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN239310;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1200;dpsi_zscore=0.542;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.76e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=4.837e-05;gnomAD_exome_NFE=7.688e-05;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=3.393e-05;gnomAD_genome_ALL=3.23e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.668e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:DP:CLCAD2 . . . . . . . . . . 1:317:0,169 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 7 128495338 129097;rs3816885 C T 137.60 . #_unique_end_positions=,16;#_unique_start_positions=,13;AC=6;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4244;AF_ESP_clinvar_20171029_hg19=,0.1491;AF_EXAC_clinvar_20171029_hg19=,0.12296;AF_TGP_clinvar_20171029_hg19=,0.2588;ALLELEID_clinvar_20171029_hg19=,134543;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1571;AN=6;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.09;CAF_dbsnp_common_v150_hg19_refseq=,0.7412|0.2588;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000007.13:g.128495338C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001127487.1:c.7122C>T|_NM_001458.4:c.7221C>T;Coding_region_change_in_longest_transcript=,NM_001458.4:c.7221C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3780;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0378;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,32;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,FLNC:2318;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:2318;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:2318;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:3756;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:3756;Homo_sapiens_refseq_GRCh37.p13_Genes=,FLNC;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001127487.1|NM_001458.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene16860;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna24149|rna24148;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:102565;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:102565;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene16860;QUAL=,114.79441793272755;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,128495338;RS_dbsnp_common_v150_hg19_refseq=,3816885;Read_count=,18;Read_coverage=,44;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9386900012219813;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001127487.1|NM_001458.4;Reverse_read_coverage=,12;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2117;SF=1,8,16,20,25,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.807885|0.192115;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05016800030515053f100100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.346939;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.039823;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.341463;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.376471;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.206897;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.383721;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.343023;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.320225;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.15;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.170213;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.0511364;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.442478;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.14;db_xref=,GeneID:2318|HGNC:HGNC:3756|MIM:102565;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001127487.1|Genbank:NM_001458.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,filamin_C;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,FLNC;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,FLNC;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ABP-280|ABP280A|ABPA|ABPL|CMH26|FLN2|MFM5|MPD4|RCM5;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,filamin_C|_transcript_variant_2|filamin_C|_transcript_variant_1;transcript_id=,NM_001127487.1|NM_001458.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FLNC;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FLNC:NM_001127487:exon42:c.C7122T:p.D2374D,FLNC:NM_001458:exon43:c.C7221T:p.D2407D;cytoBand=7q32.1;genomicSuperDups=.;esp6500siv2_all=0.1491;esp6500siv2_ea=0.0436;esp6500siv2_all=0.1491;esp6500siv2_ea=0.0436;1000g2015aug_all=0.258786;avsnp147=rs3816885;Kaviar_AF=0.117101;Kaviar_AC=18104;Kaviar_AN=154602;ExAC_ALL=0.1230;ExAC_AFR=0.3797;ExAC_AMR=0.1743;ExAC_EAS=0.3591;ExAC_FIN=0.0230;ExAC_NFE=0.0445;ExAC_OTH=0.0867;ExAC_SAS=0.1701;CLNALLELEID=134543;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.9073;dpsi_zscore=-1.415;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1168;gnomAD_exome_AFR=0.3826;gnomAD_exome_AMR=0.1578;gnomAD_exome_ASJ=0.0183;gnomAD_exome_EAS=0.3608;gnomAD_exome_FIN=0.0269;gnomAD_exome_NFE=0.0439;gnomAD_exome_OTH=0.0879;gnomAD_exome_SAS=0.1699;gnomAD_genome_ALL=0.1589;gnomAD_genome_AFR=0.3936;gnomAD_genome_AMR=0.1444;gnomAD_genome_ASJ=0.0199;gnomAD_genome_EAS=0.3459;gnomAD_genome_FIN=0.0264;gnomAD_genome_NFE=0.0426;gnomAD_genome_OTH=0.0786;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . 1:41:0,17 . . . . . . 1:53:0,20 . . . . . . . 1:63:0,28 . . . 1:62:0,24 . . . . 1:38:0,17 . . . . . . . . . . . . . . . 1:43:0,18 7 150644756 67452 G A 200.00 . #_unique_end_positions=,65;#_unique_start_positions=,67;AC=1;AF_ESP_clinvar_20171029_hg19=,0.0001;AF_EXAC_clinvar_20171029_hg19=,0.00004;ALLELEID_clinvar_20171029_hg19=,78348;AN=1;Amino_acid_change=,NP_000229.1:p.Pro968Leu|_NP_742054.1:p.Pro628Leu;Amino_acid_change_in_longest_transcript=,NP_000229.1:p.Pro968Leu;BaseQRankSum=,-0.31;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN517202;CLNDN_clinvar_20171029_hg19=,not_provided;CLNHGVS_clinvar_20171029_hg19=,NC_000007.13:g.150644756G>A;CLNREVSTAT_clinvar_20171029_hg19=,no_assertion_provided;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,UniProtKB_(protein):Q12809#VAR_074897;Coding_region_change=,NM_000238.3:c.2903C>T|_NM_001204798.1:c.*2231C>T|_NM_172056.2:c.*2231C>T|_NM_172057.2:c.1883C>T;Coding_region_change_in_longest_transcript=,NM_000238.3:c.2903C>T;Exact_match=,clinvar_20171029_hg19;Forward_read_coverage=,161;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:3757;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:3757;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:6251;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:6251;Homo_sapiens_refseq_GRCh37.p13_Genes=,KCNH2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_172057.2|NM_000238.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene17313;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna24620|rna24619;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:152427;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:152427;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene17313;QUAL=,200.0;Read_count=,120;Read_coverage=,279;Read_direction_test_probability=,0.9997943934343;Read_position_test_probability=,0.9182602253384659;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_172057.2|NM_000238.3;Reverse_read_coverage=,118;SF=15;conservation_score=,0.073;db_xref=,GeneID:3757|HGNC:HGNC:6251|MIM:152427;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:01069;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_172057.2|HPRD:01069|Genbank:NM_000238.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,potassium_voltage-gated_channel|_subfamily_H_(eag-related)|_member_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,KCNH2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,KCNH2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ERG-1|ERG1|H-ERG|HERG|HERG1|Kv11.1|LQT2|SQT1;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,potassium_voltage-gated_channel_subfamily_H_member_2|_transcript_variant_3|potassium_voltage-gated_channel|_subfamily_H_(eag-related)|_member_2|_transcript_variant_1;transcript_id=,NM_172057.2|NM_000238.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KCNH2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=KCNH2:NM_172057:exon8:c.C1883T:p.P628L,KCNH2:NM_000238:exon12:c.C2903T:p.P968L;cytoBand=7q36.1;genomicSuperDups=.;esp6500siv2_all=7.8e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=7.8e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=.;avsnp147=rs199473017;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;ExAC_ALL=4.129e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0.0002;ExAC_FIN=0;ExAC_NFE=5.055e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=78348;CLNDN=not_provided;CLNDISDB=MedGen:CN517202;CLNREVSTAT=no_assertion_provided;CLNSIG=not_provided;SIFT_score=0.144;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.390;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=N;MutationAssessor_score=-1.355;MutationAssessor_pred=N;FATHMM_score=-4.69;FATHMM_pred=D;PROVEAN_score=-0.87;PROVEAN_pred=N;VEST3_score=0.694;CADD_raw=1.912;CADD_phred=15.66;DANN_score=0.959;fathmm-MKL_coding_score=0.083;fathmm-MKL_coding_pred=N;MetaSVM_score=0.010;MetaSVM_pred=D;MetaLR_score=0.629;MetaLR_pred=D;integrated_fitCons_score=0.658;integrated_confidence_value=0;GERP++_RS=1.64;phyloP7way_vertebrate=0.055;phyloP20way_mammalian=0.875;phastCons7way_vertebrate=0.337;phastCons20way_mammalian=0.965;SiPhy_29way_logOdds=3.071;GDI_full_10282015=.;dpsi_max_tissue=-0.1804;dpsi_zscore=-0.647;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM057119#"Long_QT_syndrome";gnomAD_exome_ALL=3.502e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=6.101e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=6.036e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=4.909e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=7 GT:DP:CLCAD2 . . . . . . . . . . . . . . . 1:251:0,112 . . . . . . . . . . . . . . . . . . . . . . . . . . 7 150645534 67427;rs1805123 T G 167.45 . #_unique_end_positions=,15;#_unique_start_positions=,15;AC=20;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0068;AF_ESP_clinvar_20171029_hg19=,0.1691;AF_EXAC_clinvar_20171029_hg19=,0.18715;AF_TGP_clinvar_20171029_hg19=,0.1362;ALLELEID_clinvar_20171029_hg19=,78323;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1700;AN=20;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_000229.1:p.Lys897Thr|_NP_742054.1:p.Lys557Thr;Amino_acid_change_in_longest_transcript=,NP_000229.1:p.Lys897Thr;BaseQRankSum=,0.72;CAF_dbsnp_common_v150_hg19_refseq=,0.8638|.|0.1362;CLNDISDB_clinvar_20171029_hg19=,MeSH:D008133|MedGen:C0023976|SNOMED_CT:9651007|MedGen:C0004238|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNDN_clinvar_20171029_hg19=,Long_QT_syndrome|Atrial_fibrillation|not_specified|Cardiovascular_phenotype|not_provided;CLNHGVS_clinvar_20171029_hg19=,NC_000007.13:g.150645534T>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:77548|UniProtKB_(protein):Q12809#VAR_014388;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000238.3:c.2690A>C|_NM_001204798.1:c.*1453A>C|_NM_172056.2:c.*1453A>C|_NM_172057.2:c.1670A>C;Coding_region_change_in_longest_transcript=,NM_000238.3:c.2690A>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0536;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2535;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,2;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,KCNH2:3757;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:3757;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:3757;Genotype=,G/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:6251;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:6251;Homo_sapiens_refseq_GRCh37.p13_Genes=,KCNH2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_172057.2|NM_000238.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene17313;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna24620|rna24619;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:152427;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:152427;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;OM_dbsnp_common_v150_hg19_refseq=,OM;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene17313;QUAL=,85.15414967154454;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,150645534;RS_dbsnp_common_v150_hg19_refseq=,1805123;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,23;Read_coverage=,37;Read_direction_test_probability=,0.9291436065700002;Read_position_test_probability=,0.802254735774234;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_172057.2|NM_000238.3;Reverse_read_coverage=,35;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2515;SF=0,1,2,3,4,5,6,12,13,14,20,22,27,28,30,31,35,39,40;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.859468|.|0.140532;TPA_dbsnp_common_v150_hg19_refseq=,TPA;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050178000a05150537110100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.0612245;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.238938;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.0487805;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.0529412;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.255682;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0232558;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0232558;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.0111111;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.16;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.0352113;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.275862;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0169492;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.996;db_xref=,GeneID:3757|HGNC:HGNC:6251|MIM:152427;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:01069;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_172057.2|HPRD:01069|Genbank:NM_000238.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,potassium_voltage-gated_channel|_subfamily_H_(eag-related)|_member_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,KCNH2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,KCNH2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ERG-1|ERG1|H-ERG|HERG|HERG1|Kv11.1|LQT2|SQT1;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,potassium_voltage-gated_channel_subfamily_H_member_2|_transcript_variant_3|potassium_voltage-gated_channel|_subfamily_H_(eag-related)|_member_2|_transcript_variant_1;transcript_id=,NM_172057.2|NM_000238.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KCNH2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=KCNH2:NM_172057:exon7:c.A1670C:p.K557T,KCNH2:NM_000238:exon11:c.A2690C:p.K897T;cytoBand=7q36.1;genomicSuperDups=.;esp6500siv2_all=0.1691;esp6500siv2_ea=0.2326;esp6500siv2_all=0.1691;esp6500siv2_ea=0.2326;1000g2015aug_all=0.136182;avsnp147=rs1805123;Kaviar_AF=0.181039;Kaviar_AC=27989;Kaviar_AN=154602;ExAC_ALL=0.1871;ExAC_AFR=0.0439;ExAC_AMR=0.1029;ExAC_EAS=0.0450;ExAC_FIN=0.1789;ExAC_NFE=0.2348;ExAC_OTH=0.2225;ExAC_SAS=0.2135;CLNALLELEID=78323;CLNDN=Long_QT_syndrome|Atrial_fibrillation|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0004238|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.253;SIFT_pred=T;Polyphen2_HDIV_score=0.952;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.305;Polyphen2_HVAR_pred=B;LRT_score=0.004;LRT_pred=N;MutationTaster_score=0.205;MutationTaster_pred=P;MutationAssessor_score=1.935;MutationAssessor_pred=M;FATHMM_score=-4.79;FATHMM_pred=D;PROVEAN_score=-1.47;PROVEAN_pred=N;VEST3_score=0.403;CADD_raw=2.039;CADD_phred=16.46;DANN_score=0.991;fathmm-MKL_coding_score=0.744;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.076;MetaSVM_pred=T;MetaLR_score=0.002;MetaLR_pred=T;integrated_fitCons_score=0.685;integrated_confidence_value=0;GERP++_RS=-0.036;phyloP7way_vertebrate=0.046;phyloP20way_mammalian=0.107;phastCons7way_vertebrate=0.985;phastCons20way_mammalian=0.996;SiPhy_29way_logOdds=7.206;GDI_full_10282015=.;dpsi_max_tissue=0.0753;dpsi_zscore=0.401;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM004877#"Atrial_fibrillation_association_with";gnomAD_exome_ALL=0.1819;gnomAD_exome_AFR=0.0357;gnomAD_exome_AMR=0.1136;gnomAD_exome_ASJ=0.2035;gnomAD_exome_EAS=0.0473;gnomAD_exome_FIN=0.1667;gnomAD_exome_NFE=0.2359;gnomAD_exome_OTH=0.1914;gnomAD_exome_SAS=0.2084;gnomAD_genome_ALL=0.1850;gnomAD_genome_AFR=0.0537;gnomAD_genome_AMR=0.1932;gnomAD_genome_ASJ=0.2428;gnomAD_genome_EAS=0.0437;gnomAD_genome_FIN=0.2616;gnomAD_genome_NFE=0.2577;gnomAD_genome_OTH=0.2150;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:37:0,23 1:64:0,34 1:51:0,19 1:63:0,24 1:59:0,40 1:86:0,37 1:43:0,18 . . . . . 1:73:0,35 1:69:0,39 1:96:0,51 . . . . . 1:56:0,30 . 1:78:0,36 . . . . 1:94:0,44 1:66:0,34 . 1/1:55:0,55 1:30:0,17 . . . 1:68:0,33 . . . 1:81:0,37 1:74:0,26 . 7 150646928 rs41307289 G A 200.00 . #_unique_end_positions=,41;#_unique_start_positions=,35;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0015;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0043;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.9738|0.02616;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000238.3:c.2398+328C>T|_NM_001204798.1:c.*59C>T|_NM_172056.2:c.*59C>T|_NM_172057.2:c.1378+328C>T;Coding_region_change_in_longest_transcript=,NM_000238.3:c.2398+328C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0843;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,75;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,KCNH2:3757;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:3757;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:3757;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:6251;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:6251;Homo_sapiens_refseq_GRCh37.p13_Genes=,KCNH2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001204798.1|NM_172056.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene17313;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna24622|rna24621;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:152427;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:152427;Non-synonymous=,-;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene17313;QUAL=,200.0;RSPOS_dbsnp_common_v150_hg19_refseq=,150646928;RS_dbsnp_common_v150_hg19_refseq=,41307289;Read_count=,60;Read_coverage=,153;Read_direction_test_probability=,0.8242666056776407;Read_position_test_probability=,0.504140287497034;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001204798.1|NM_172056.2;Reverse_read_coverage=,78;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0419;SF=37;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.997459|0.00254138;TPA_dbsnp_common_v150_hg19_refseq=,TPA;U3_dbsnp_common_v150_hg19_refseq=,U3;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050138880005150536000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.0;db_xref=,GeneID:3757|HGNC:HGNC:6251|MIM:152427;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:01069;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001204798.1|HPRD:01069|Genbank:NM_172056.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,potassium_voltage-gated_channel|_subfamily_H_(eag-related)|_member_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,KCNH2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,KCNH2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ERG-1|ERG1|H-ERG|HERG|HERG1|Kv11.1|LQT2|SQT1;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,potassium_voltage-gated_channel|_subfamily_H_(eag-related)|_member_2|_transcript_variant_4|potassium_channel|_voltage_gated_eag_related_subfamily_H|_member_2|_transcript_variant_2;transcript_id=,NM_001204798.1|NM_172056.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR3;Gene.refGene=KCNH2;GeneDetail.refGene=NM_001204798:c.*59C>T,NM_172056:c.*59C>T;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=7q36.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.0261581;avsnp147=rs41307289;Kaviar_AF=0.0094514;Kaviar_AC=246;Kaviar_AN=26028;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.0053;gnomAD_genome_AFR=0.0002;gnomAD_genome_AMR=0.0179;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0.0786;gnomAD_genome_FIN=0.0023;gnomAD_genome_NFE=0.0006;gnomAD_genome_OTH=0.0031;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:141:0,56 . . . . 7 150648198 200230;rs1137617 A G 190.88 . #_unique_end_positions=,26;#_unique_start_positions=,26;AC=55;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9448;ALLELEID_clinvar_20171029_hg19=,197235;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6383;AN=55;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.2278|.|0.7722|.;CLNDISDB_clinvar_20171029_hg19=,MeSH:D008133|MedGen:C0023976|SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736;CLNDN_clinvar_20171029_hg19=,Long_QT_syndrome|not_specified|Cardiovascular_phenotype;CLNHGVS_clinvar_20171029_hg19=,NC_000007.13:g.150648198A>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:43053;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000238.3:c.1956T>C|_NM_001204798.1:c.936T>C|_NM_172056.2:c.1956T>C|_NM_172057.2:c.936T>C;Coding_region_change_in_longest_transcript=,NM_000238.3:c.1956T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.8819;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6044;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,27;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,KCNH2:3757;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:3757;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:3757;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:6251;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:6251;Homo_sapiens_refseq_GRCh37.p13_Genes=,KCNH2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_172057.2|NM_000238.3|NM_001204798.1|NM_172056.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene17313;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna24620|rna24619|rna24622|rna24621;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:152427;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:152427;Non-synonymous=,No;OM_dbsnp_common_v150_hg19_refseq=,OM;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene17313;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,150648198;RS_dbsnp_common_v150_hg19_refseq=,1137617;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,44;Read_coverage=,92;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.7223065008838747;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_172057.2|NM_000238.3|NM_001204798.1|NM_172056.2;Reverse_read_coverage=,65;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6933;SF=0,1,2,3,4,5,6,7,8,10,11,12,13,14,16,17,20,21,22,23,25,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.254516|.|0.745484|.;TPA_dbsnp_common_v150_hg19_refseq=,TPA;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05017800030515053e110100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.946;db_xref=,GeneID:3757|HGNC:HGNC:6251|MIM:152427;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:01069;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_172057.2|HPRD:01069|Genbank:NM_000238.3|Genbank:NM_001204798.1|Genbank:NM_172056.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,potassium_voltage-gated_channel|_subfamily_H_(eag-related)|_member_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,KCNH2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,KCNH2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ERG-1|ERG1|H-ERG|HERG|HERG1|Kv11.1|LQT2|SQT1;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,potassium_voltage-gated_channel_subfamily_H_member_2|_transcript_variant_3|potassium_voltage-gated_channel|_subfamily_H_(eag-related)|_member_2|_transcript_variant_1|potassium_voltage-gated_channel|_subfamily_H_(eag-related)|_member_2|_transcript_variant_4|potassium_channel|_voltage_gated_eag_related_subfamily_H|_member_2|_transcript_variant_2;transcript_id=,NM_172057.2|NM_000238.3|NM_001204798.1|NM_172056.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KCNH2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCNH2:NM_001204798:exon4:c.T936C:p.Y312Y,KCNH2:NM_172057:exon4:c.T936C:p.Y312Y,KCNH2:NM_000238:exon8:c.T1956C:p.Y652Y,KCNH2:NM_172056:exon8:c.T1956C:p.Y652Y;cytoBand=7q36.1;genomicSuperDups=.;esp6500siv2_all=0.6905;esp6500siv2_ea=0.5898;esp6500siv2_all=0.6905;esp6500siv2_ea=0.5898;1000g2015aug_all=0.772165;avsnp147=rs1137617;Kaviar_AF=0.652417;Kaviar_AC=100865;Kaviar_AN=154602;ExAC_ALL=0.6658;ExAC_AFR=0.8968;ExAC_AMR=0.6571;ExAC_EAS=0.9048;ExAC_FIN=0.6407;ExAC_NFE=0.5994;ExAC_OTH=0.7002;ExAC_SAS=0.6771;CLNALLELEID=197235;CLNDN=Long_QT_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0991;dpsi_zscore=-0.446;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.6609;gnomAD_exome_AFR=0.9002;gnomAD_exome_AMR=0.6493;gnomAD_exome_ASJ=0.6066;gnomAD_exome_EAS=0.9081;gnomAD_exome_FIN=0.6331;gnomAD_exome_NFE=0.6023;gnomAD_exome_OTH=0.6415;gnomAD_exome_SAS=0.6672;gnomAD_genome_ALL=0.7031;gnomAD_genome_AFR=0.8883;gnomAD_genome_AMR=0.6766;gnomAD_genome_ASJ=0.61;gnomAD_genome_EAS=0.9021;gnomAD_genome_FIN=0.6263;gnomAD_genome_NFE=0.6004;gnomAD_genome_OTH=0.6222;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:80:0,40 1:141:0,65 1/1:119:0,119 1:158:0,94 1/1:107:0,107 1:124:0,59 1/1:90:0,90 1:111:0,61 1:147:0,85 . 1:167:0,99 1/1:146:0,146 1/1:136:0,136 1:153:0,83 1/1:191:0,191 . 1:157:0,69 1:152:0,85 . . 1:132:0,66 1/1:145:0,145 1:184:0,82 1/1:151:0,151 . 1:106:0,44 . 1/1:189:0,189 1/1:161:0,160 1:164:0,80 1/1:144:0,144 1/1:88:0,88 1:122:0,55 1/1:123:0,123 1/1:143:0,143 1/1:132:0,132 1:110:0,57 1/1:121:0,121 1/1:110:0,110 1/1:160:0,160 1/1:169:0,169 1:116:0,54 7 150648789 200228;rs1805121 T C 198.33 . #_unique_end_positions=,69;#_unique_start_positions=,57;AC=31;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.8200;AF_ESP_clinvar_20171029_hg19=,0.4894;AF_EXAC_clinvar_20171029_hg19=,0.47859;ALLELEID_clinvar_20171029_hg19=,197263;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4625;AN=31;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.6;CAF_dbsnp_common_v150_hg19_refseq=,0.3916|0.6084;CLNDISDB_clinvar_20171029_hg19=,MeSH:D008133|MedGen:C0023976|SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736;CLNDN_clinvar_20171029_hg19=,Long_QT_syndrome|not_specified|Cardiovascular_phenotype;CLNHGVS_clinvar_20171029_hg19=,NC_000007.13:g.150648789T>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:43060;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000238.3:c.1692A>G|_NM_001204798.1:c.672A>G|_NM_172056.2:c.1692A>G|_NM_172057.2:c.672A>G;Coding_region_change_in_longest_transcript=,NM_000238.3:c.1692A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.8343;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3608;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU;Forward_read_coverage=,104;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,KCNH2:3757;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:3757;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:3757;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:6251;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:6251;Homo_sapiens_refseq_GRCh37.p13_Genes=,KCNH2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_172057.2|NM_000238.3|NM_001204798.1|NM_172056.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene17313;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna24620|rna24619|rna24622|rna24621;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:152427;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:152427;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene17313;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,150648789;RS_dbsnp_common_v150_hg19_refseq=,1805121;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,137;Read_coverage=,258;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9887336804122815;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_172057.2|NM_000238.3|NM_001204798.1|NM_172056.2;Reverse_read_coverage=,154;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4479;SF=2,4,7,8,10,11,12,14,17,21,23,25,27,28,29,31,32,33,34,35,36,37,38,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.439797|0.560203;TPA_dbsnp_common_v150_hg19_refseq=,TPA;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05013800030515053f000101;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.381356;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:3757|HGNC:HGNC:6251|MIM:152427;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:01069;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_172057.2|HPRD:01069|Genbank:NM_000238.3|Genbank:NM_001204798.1|Genbank:NM_172056.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,potassium_voltage-gated_channel|_subfamily_H_(eag-related)|_member_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,KCNH2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,KCNH2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ERG-1|ERG1|H-ERG|HERG|HERG1|Kv11.1|LQT2|SQT1;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,potassium_voltage-gated_channel_subfamily_H_member_2|_transcript_variant_3|potassium_voltage-gated_channel|_subfamily_H_(eag-related)|_member_2|_transcript_variant_1|potassium_voltage-gated_channel|_subfamily_H_(eag-related)|_member_2|_transcript_variant_4|potassium_channel|_voltage_gated_eag_related_subfamily_H|_member_2|_transcript_variant_2;transcript_id=,NM_172057.2|NM_000238.3|NM_001204798.1|NM_172056.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KCNH2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCNH2:NM_001204798:exon3:c.A672G:p.L224L,KCNH2:NM_172057:exon3:c.A672G:p.L224L,KCNH2:NM_000238:exon7:c.A1692G:p.L564L,KCNH2:NM_172056:exon7:c.A1692G:p.L564L;cytoBand=7q36.1;genomicSuperDups=.;esp6500siv2_all=0.4894;esp6500siv2_ea=0.3601;esp6500siv2_all=0.4894;esp6500siv2_ea=0.3601;1000g2015aug_all=0.608427;avsnp147=rs1805121;Kaviar_AF=0.464567;Kaviar_AC=71823;Kaviar_AN=154602;ExAC_ALL=0.4786;ExAC_AFR=0.7556;ExAC_AMR=0.5483;ExAC_EAS=0.8677;ExAC_FIN=0.4766;ExAC_NFE=0.3756;ExAC_OTH=0.4779;ExAC_SAS=0.4679;CLNALLELEID=197263;CLNDN=Long_QT_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0054;dpsi_zscore=0.037;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.4771;gnomAD_exome_AFR=0.7622;gnomAD_exome_AMR=0.5311;gnomAD_exome_ASJ=0.3982;gnomAD_exome_EAS=0.8694;gnomAD_exome_FIN=0.4768;gnomAD_exome_NFE=0.3725;gnomAD_exome_OTH=0.4551;gnomAD_exome_SAS=0.4651;gnomAD_genome_ALL=0.5247;gnomAD_genome_AFR=0.7417;gnomAD_genome_AMR=0.5263;gnomAD_genome_ASJ=0.3808;gnomAD_genome_EAS=0.8605;gnomAD_genome_FIN=0.4644;gnomAD_genome_NFE=0.3836;gnomAD_genome_OTH=0.4491;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . 1:233:0,124 . 1:194:0,87 . . 1:225:0,115 1:227:0,121 . 1:260:0,126 1:208:0,99 1:240:0,126 . 1:395:0,201 . . 1:248:0,126 . . . 1:263:0,138 . 1/1:327:0,327 . 1:168:0,87 . 1:325:0,160 1:329:0,171 1:253:0,138 . 1:112:0,56 1:254:0,122 1/1:219:0,219 1/1:237:0,237 1:219:0,120 1:198:0,95 1/1:180:0,180 1/1:203:0,203 1:266:0,111 1:221:0,121 1:215:0,110 7 150648918 70633;rs143011005 G A 200.00 . #_unique_end_positions=,21;#_unique_start_positions=,22;AC=1;AF_ESP_clinvar_20171029_hg19=,0.0008;AF_EXAC_clinvar_20171029_hg19=,0.00118;AF_TGP_clinvar_20171029_hg19=,0.0016;ALLELEID_clinvar_20171029_hg19=,81524;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.32;CAF_dbsnp_common_v150_hg19_refseq=,0.9984|0.001597;CLNDISDB_clinvar_20171029_hg19=,MeSH:D008133|MedGen:C0023976|SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736;CLNDN_clinvar_20171029_hg19=,Long_QT_syndrome|not_specified|Cardiovascular_phenotype;CLNHGVS_clinvar_20171029_hg19=,NC_000007.13:g.150648918G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_conflicting_interpretations;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000238.3:c.1563C>T|_NM_001204798.1:c.543C>T|_NM_172056.2:c.1563C>T|_NM_172057.2:c.543C>T;Coding_region_change_in_longest_transcript=,NM_000238.3:c.1563C>T;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq;Forward_read_coverage=,49;GENEINFO_dbsnp_common_v150_hg19_refseq=,KCNH2:3757;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:3757;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:3757;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:6251;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:6251;Homo_sapiens_refseq_GRCh37.p13_Genes=,KCNH2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_172057.2|NM_000238.3|NM_001204798.1|NM_172056.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene17313;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna24620|rna24619|rna24622|rna24621;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:152427;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:152427;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene17313;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,150648918;RS_dbsnp_common_v150_hg19_refseq=,143011005;Read_count=,42;Read_coverage=,110;Read_direction_test_probability=,0.9575328155464339;Read_position_test_probability=,0.6768963794007823;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_172057.2|NM_000238.3|NM_001204798.1|NM_172056.2;Reverse_read_coverage=,61;SAO_dbsnp_common_v150_hg19_refseq=,1;SF=39;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.998695|0.00130503;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050160000305040036100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.503;db_xref=,GeneID:3757|HGNC:HGNC:6251|MIM:152427;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:01069;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_172057.2|HPRD:01069|Genbank:NM_000238.3|Genbank:NM_001204798.1|Genbank:NM_172056.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,potassium_voltage-gated_channel|_subfamily_H_(eag-related)|_member_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,KCNH2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,KCNH2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ERG-1|ERG1|H-ERG|HERG|HERG1|Kv11.1|LQT2|SQT1;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,potassium_voltage-gated_channel_subfamily_H_member_2|_transcript_variant_3|potassium_voltage-gated_channel|_subfamily_H_(eag-related)|_member_2|_transcript_variant_1|potassium_voltage-gated_channel|_subfamily_H_(eag-related)|_member_2|_transcript_variant_4|potassium_channel|_voltage_gated_eag_related_subfamily_H|_member_2|_transcript_variant_2;transcript_id=,NM_172057.2|NM_000238.3|NM_001204798.1|NM_172056.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KCNH2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCNH2:NM_001204798:exon3:c.C543T:p.I181I,KCNH2:NM_172057:exon3:c.C543T:p.I181I,KCNH2:NM_000238:exon7:c.C1563T:p.I521I,KCNH2:NM_172056:exon7:c.C1563T:p.I521I;cytoBand=7q36.1;genomicSuperDups=.;esp6500siv2_all=0.0008;esp6500siv2_ea=0.0010;esp6500siv2_all=0.0008;esp6500siv2_ea=0.0010;1000g2015aug_all=0.00159744;avsnp147=rs143011005;Kaviar_AF=0.0011643;Kaviar_AC=180;Kaviar_AN=154602;ExAC_ALL=0.0012;ExAC_AFR=0.0003;ExAC_AMR=0.0012;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0016;ExAC_OTH=0.0040;ExAC_SAS=0.0005;CLNALLELEID=81524;CLNDN=Long_QT_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0095;dpsi_zscore=-0.034;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0012;gnomAD_exome_AFR=6.768e-05;gnomAD_exome_AMR=0.0014;gnomAD_exome_ASJ=0.0104;gnomAD_exome_EAS=5.872e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0012;gnomAD_exome_OTH=0.0029;gnomAD_exome_SAS=0.0008;gnomAD_genome_ALL=0.0005;gnomAD_genome_AFR=0.0002;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0007;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:104:0,38 . . 7 150649531 36428;rs1805120 G A 197.75 . #_unique_end_positions=,46;#_unique_start_positions=,35;AC=19;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2511;AF_ESP_clinvar_20171029_hg19=,0.2264;AF_EXAC_clinvar_20171029_hg19=,0.29345;AF_TGP_clinvar_20171029_hg19=,0.3417;ALLELEID_clinvar_20171029_hg19=,45091;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3357;AN=19;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.19;CAF_dbsnp_common_v150_hg19_refseq=,0.6583|0.3417;CLNDISDB_clinvar_20171029_hg19=,MeSH:D008133|MedGen:C0023976|SNOMED_CT:9651007|MedGen:C0003811|OMIM:115000|MedGen:CN169374|MedGen:CN230736;CLNDN_clinvar_20171029_hg19=,Long_QT_syndrome|Cardiac_arrhythmia|not_specified|Cardiovascular_phenotype;CLNHGVS_clinvar_20171029_hg19=,NC_000007.13:g.150649531G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:43063;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000238.3:c.1539C>T|_NM_001204798.1:c.519C>T|_NM_172056.2:c.1539C>T|_NM_172057.2:c.519C>T;Coding_region_change_in_longest_transcript=,NM_000238.3:c.1539C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6220;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2127;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,89;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,KCNH2:3757;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:3757;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:3757;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:6251;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:6251;Homo_sapiens_refseq_GRCh37.p13_Genes=,KCNH2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_172057.2|NM_000238.3|NM_001204798.1|NM_172056.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene17313;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna24620|rna24619|rna24622|rna24621;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:152427;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:152427;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene17313;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,150649531;RS_dbsnp_common_v150_hg19_refseq=,1805120;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,59;Read_coverage=,127;Read_direction_test_probability=,0.9874293938266986;Read_position_test_probability=,0.8083888989648441;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_172057.2|NM_000238.3|NM_001204798.1|NM_172056.2;Reverse_read_coverage=,38;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3119;SF=2,7,8,10,11,12,14,23,28,31,32,33,34,35,38,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.736349|0.263651;TPA_dbsnp_common_v150_hg19_refseq=,TPA;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05017800030515053f100100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.27551;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.20354;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.609756;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.647059;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.306818;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.55814;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.729412;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.355556;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.38;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.286713;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.244318;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.256637;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.798;db_xref=,GeneID:3757|HGNC:HGNC:6251|MIM:152427;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:01069;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_172057.2|HPRD:01069|Genbank:NM_000238.3|Genbank:NM_001204798.1|Genbank:NM_172056.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,potassium_voltage-gated_channel|_subfamily_H_(eag-related)|_member_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,KCNH2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,KCNH2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ERG-1|ERG1|H-ERG|HERG|HERG1|Kv11.1|LQT2|SQT1;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,potassium_voltage-gated_channel_subfamily_H_member_2|_transcript_variant_3|potassium_voltage-gated_channel|_subfamily_H_(eag-related)|_member_2|_transcript_variant_1|potassium_voltage-gated_channel|_subfamily_H_(eag-related)|_member_2|_transcript_variant_4|potassium_channel|_voltage_gated_eag_related_subfamily_H|_member_2|_transcript_variant_2;transcript_id=,NM_172057.2|NM_000238.3|NM_001204798.1|NM_172056.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KCNH2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCNH2:NM_001204798:exon2:c.C519T:p.F173F,KCNH2:NM_172057:exon2:c.C519T:p.F173F,KCNH2:NM_000238:exon6:c.C1539T:p.F513F,KCNH2:NM_172056:exon6:c.C1539T:p.F513F;cytoBand=7q36.1;genomicSuperDups=.;esp6500siv2_all=0.2264;esp6500siv2_ea=0.2133;esp6500siv2_all=0.2264;esp6500siv2_ea=0.2133;1000g2015aug_all=0.341653;avsnp147=rs1805120;Kaviar_AF=0.281769;Kaviar_AC=43562;Kaviar_AN=154602;ExAC_ALL=0.2935;ExAC_AFR=0.2463;ExAC_AMR=0.4305;ExAC_EAS=0.6622;ExAC_FIN=0.3166;ExAC_NFE=0.2218;ExAC_OTH=0.3214;ExAC_SAS=0.3139;CLNALLELEID=45091;CLNDN=Long_QT_syndrome|Cardiac_arrhythmia|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0003811,OMIM:115000|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.7882;dpsi_zscore=-1.828;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3005;gnomAD_exome_AFR=0.2462;gnomAD_exome_AMR=0.4063;gnomAD_exome_ASJ=0.3255;gnomAD_exome_EAS=0.6569;gnomAD_exome_FIN=0.3091;gnomAD_exome_NFE=0.2141;gnomAD_exome_OTH=0.2997;gnomAD_exome_SAS=0.3121;gnomAD_genome_ALL=0.2667;gnomAD_genome_AFR=0.2454;gnomAD_genome_AMR=0.3756;gnomAD_genome_ASJ=0.3113;gnomAD_genome_EAS=0.6539;gnomAD_genome_FIN=0.2964;gnomAD_genome_NFE=0.2223;gnomAD_genome_OTH=0.2838;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . 1:123:0,57 . . . . 1:127:0,65 1:150:0,80 . 1:181:0,96 1:147:0,66 1:169:0,78 . 1:240:0,111 . . . . . . . . 1:216:0,111 . . . . 1:183:0,88 . . 1:77:0,38 1:144:0,77 1/1:129:0,129 1:140:0,69 1:122:0,58 . . 1:127:0,59 1:130:0,58 1:164:0,81 1:108:0,54 7 150649603 255614;rs740952 G A 200.00 . #_unique_end_positions=,48;#_unique_start_positions=,43;AC=19;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2632;AF_ESP_clinvar_20171029_hg19=,0.2302;AF_EXAC_clinvar_20171029_hg19=,0.29287;AF_TGP_clinvar_20171029_hg19=,0.3427;ALLELEID_clinvar_20171029_hg19=,252648;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3372;AN=19;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.27;CAF_dbsnp_common_v150_hg19_refseq=,0.6567|0.3427|0.000599;CLNDISDB_clinvar_20171029_hg19=,MeSH:D008133|MedGen:C0023976|SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736;CLNDN_clinvar_20171029_hg19=,Long_QT_syndrome|not_specified|Cardiovascular_phenotype;CLNHGVS_clinvar_20171029_hg19=,NC_000007.13:g.150649603G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,ARUP_Laboratories|_Molecular_Genetics_and_Genomics:49128|Illumina_Clinical_Services_Laboratory|Illumina:43083;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000238.3:c.1467C>T|_NM_001204798.1:c.447C>T|_NM_172056.2:c.1467C>T|_NM_172057.2:c.447C>T;Coding_region_change_in_longest_transcript=,NM_000238.3:c.1467C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6131;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2127;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,104;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,KCNH2:3757;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:3757;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:3757;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:6251;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:6251;Homo_sapiens_refseq_GRCh37.p13_Genes=,KCNH2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_172057.2|NM_000238.3|NM_001204798.1|NM_172056.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene17313;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna24620|rna24619|rna24622|rna24621;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:152427;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:152427;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene17313;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,150649603;RS_dbsnp_common_v150_hg19_refseq=,740952;Read_count=,90;Read_coverage=,175;Read_direction_test_probability=,0.9840721669865571;Read_position_test_probability=,0.9878914811532823;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_172057.2|NM_000238.3|NM_001204798.1|NM_172056.2;Reverse_read_coverage=,71;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3088;SF=2,7,8,10,11,12,14,23,28,31,32,33,34,35,38,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.728725|0.271275|.;TPA_dbsnp_common_v150_hg19_refseq=,TPA;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05017800030515053e100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.995;db_xref=,GeneID:3757|HGNC:HGNC:6251|MIM:152427;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:01069;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_172057.2|HPRD:01069|Genbank:NM_000238.3|Genbank:NM_001204798.1|Genbank:NM_172056.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,potassium_voltage-gated_channel|_subfamily_H_(eag-related)|_member_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,KCNH2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,KCNH2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ERG-1|ERG1|H-ERG|HERG|HERG1|Kv11.1|LQT2|SQT1;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,potassium_voltage-gated_channel_subfamily_H_member_2|_transcript_variant_3|potassium_voltage-gated_channel|_subfamily_H_(eag-related)|_member_2|_transcript_variant_1|potassium_voltage-gated_channel|_subfamily_H_(eag-related)|_member_2|_transcript_variant_4|potassium_channel|_voltage_gated_eag_related_subfamily_H|_member_2|_transcript_variant_2;transcript_id=,NM_172057.2|NM_000238.3|NM_001204798.1|NM_172056.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KCNH2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCNH2:NM_001204798:exon2:c.C447T:p.I149I,KCNH2:NM_172057:exon2:c.C447T:p.I149I,KCNH2:NM_000238:exon6:c.C1467T:p.I489I,KCNH2:NM_172056:exon6:c.C1467T:p.I489I;cytoBand=7q36.1;genomicSuperDups=.;esp6500siv2_all=0.2302;esp6500siv2_ea=0.2135;esp6500siv2_all=0.2302;esp6500siv2_ea=0.2135;1000g2015aug_all=0.342652;avsnp147=rs740952;Kaviar_AF=0.281238;Kaviar_AC=43480;Kaviar_AN=154602;ExAC_ALL=0.2929;ExAC_AFR=0.2578;ExAC_AMR=0.4322;ExAC_EAS=0.6589;ExAC_FIN=0.3017;ExAC_NFE=0.2213;ExAC_OTH=0.3194;ExAC_SAS=0.3105;CLNALLELEID=252648;CLNDN=Long_QT_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1957;dpsi_zscore=0.714;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3012;gnomAD_exome_AFR=0.2593;gnomAD_exome_AMR=0.4097;gnomAD_exome_ASJ=0.3264;gnomAD_exome_EAS=0.6520;gnomAD_exome_FIN=0.3024;gnomAD_exome_NFE=0.2152;gnomAD_exome_OTH=0.3026;gnomAD_exome_SAS=0.3099;gnomAD_genome_ALL=0.2687;gnomAD_genome_AFR=0.2551;gnomAD_genome_AMR=0.3786;gnomAD_genome_ASJ=0.3146;gnomAD_genome_EAS=0.6472;gnomAD_genome_FIN=0.2887;gnomAD_genome_NFE=0.2231;gnomAD_genome_OTH=0.2853;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . 1:162:0,81 . . . . 1:153:0,80 1:201:0,111 . 1:213:0,93 1:164:0,94 1:207:0,102 . 1:286:0,148 . . . . . . . . 1:260:0,124 . . . . 1:250:0,127 . . 1:136:0,76 1:211:0,113 1/1:148:0,148 1:178:0,89 1:172:0,85 . . 1:156:0,66 1:168:0,74 1:209:0,100 1:154:0,92 7 151254443 rs142653616 G A 200.00 . #_unique_end_positions=,25;#_unique_start_positions=,20;AC=3;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0015;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0159;AN=3;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.06;CAF_dbsnp_common_v150_hg19_refseq=,0.9868|0.01318;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001040633.1:c.1547-125C>T|_NM_001304527.1:c.1304-125C>T|_NM_001304531.1:c.956-125C>T|_NM_016203.3:c.1679-125C>T|_NM_024429.1:c.956-125C>T;Coding_region_change_in_longest_transcript=,NM_016203.3:c.1679-125C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0487;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,32;GENEINFO_dbsnp_common_v150_hg19_refseq=,PRKAG2:51422;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:51422;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:9386;Homo_sapiens_refseq_GRCh37.p13_Genes=,PRKAG2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene17338;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:602743;Non-synonymous=,-;Other_variants_within_codon=,No;QUAL=,200.0;RSPOS_dbsnp_common_v150_hg19_refseq=,151254443;RS_dbsnp_common_v150_hg19_refseq=,142653616;Read_count=,26;Read_coverage=,59;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.8368544946239802;Reverse_read_coverage=,27;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0041;SF=7,14,34;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.981901|0.0180988;U3_dbsnp_common_v150_hg19_refseq=,U3;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050100880005140436000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.0;db_xref=,GeneID:51422|HGNC:HGNC:9386|MIM:602743;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_kinase_AMP-activated_non-catalytic_subunit_gamma_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,PRKAG2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,AAKG|AAKG2|CMH6|H91620p|WPWS;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=PRKAG2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=7q36.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.0131789;avsnp147=rs142653616;Kaviar_AF=0.0040038;Kaviar_AC=619;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.0338;gnomAD_genome_AFR=0.0078;gnomAD_genome_AMR=0.0251;gnomAD_genome_ASJ=0.0099;gnomAD_genome_EAS=0.0012;gnomAD_genome_FIN=0.0741;gnomAD_genome_NFE=0.0429;gnomAD_genome_OTH=0.0501;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . 1:58:0,25 . . . . . . 1:116:0,57 . . . . . . . . . . . . . . . . . . . 1:74:0,37 . . . . . . . 7 151254445 rs764801 T C 186.50 . #_unique_end_positions=,31;#_unique_start_positions=,25;AC=57;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1989;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5692;AN=57;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.57;CAF_dbsnp_common_v150_hg19_refseq=,0.4599|0.5401;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001040633.1:c.1547-127A>G|_NM_001304527.1:c.1304-127A>G|_NM_001304531.1:c.956-127A>G|_NM_016203.3:c.1679-127A>G|_NM_024429.1:c.956-127A>G;Coding_region_change_in_longest_transcript=,NM_016203.3:c.1679-127A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7292;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6799;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU;Forward_read_coverage=,54;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,PRKAG2:51422;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:51422;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:9386;Homo_sapiens_refseq_GRCh37.p13_Genes=,PRKAG2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene17338;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:602743;Non-synonymous=,-;Other_variants_within_codon=,No;QUAL=,200.0;RSPOS_dbsnp_common_v150_hg19_refseq=,151254445;RS_dbsnp_common_v150_hg19_refseq=,764801;Read_count=,38;Read_coverage=,83;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9960682593804815;Reverse_read_coverage=,29;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6421;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,14,15,16,17,18,19,20,21,23,24,25,27,28,29,30,31,32,33,34,36,37,38,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.541177|0.458823;U3_dbsnp_common_v150_hg19_refseq=,U3;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05010088000517013f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.633333;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.0;db_xref=,GeneID:51422|HGNC:HGNC:9386|MIM:602743;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_kinase_AMP-activated_non-catalytic_subunit_gamma_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,PRKAG2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,AAKG|AAKG2|CMH6|H91620p|WPWS;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=PRKAG2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=7q36.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.540136;avsnp147=rs764801;Kaviar_AF=0.0066851;Kaviar_AC=174;Kaviar_AN=26028;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.5429;gnomAD_genome_AFR=0.2666;gnomAD_genome_AMR=0.5167;gnomAD_genome_ASJ=0.6921;gnomAD_genome_EAS=0.7185;gnomAD_genome_FIN=0.6875;gnomAD_genome_NFE=0.6433;gnomAD_genome_OTH=0.6370;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:75:0,36 1/1:82:0,82 1:68:0,36 1:71:0,29 1/1:65:0,65 1:67:0,27 1:60:0,28 1/1:58:0,58 1:92:0,44 1:59:0,36 1/1:86:0,86 1:59:0,23 1/1:81:0,81 . 1/1:114:0,114 1/1:80:0,80 1/1:96:0,96 1:88:0,44 1/1:81:0,81 1:84:0,36 1/1:98:0,98 1:83:0,38 . 1:97:0,30 1:112:0,52 1:65:0,37 . 1:106:0,51 1/1:107:0,107 1/1:78:0,78 1:88:0,41 1/1:58:0,58 1:79:0,40 1/1:72:0,72 1/1:74:0,74 . 1:90:0,43 1/1:66:0,66 1:57:0,36 1/1:83:0,83 1/1:83:0,83 1/1:71:0,71 7 151257695 36696;rs148197254 C T 123.00 . #_unique_end_positions=,16;#_unique_start_positions=,15;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0035;AF_EXAC_clinvar_20171029_hg19=,0.00312;AF_TGP_clinvar_20171029_hg19=,0.0014;ALLELEID_clinvar_20171029_hg19=,45357;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0058;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.9986|0.001398;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001716|MedGen:C1963282|MedGen:C0878544|Orphanet:ORPHA167848|SNOMED_CT:85898001|MedGen:C1849813|OMIM:261740|Orphanet:ORPHA439854|MedGen:CN169374|MedGen:CN230736|MedGen:CN239247;CLNDN_clinvar_20171029_hg19=,Wolff-Parkinson-White_syndrome|Cardiomyopathy|Glycogen_storage_disease_of_heart|_lethal_congenital|not_specified|Cardiovascular_phenotype|Familial_Hypertrophic_Cardiomyopathy_with_Wolff-Parkinson-White_Syndrome;CLNHGVS_clinvar_20171029_hg19=,NC_000007.13:g.151257695C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_conflicting_interpretations;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:271295;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001040633.1:c.1461G>A|_NM_001304527.1:c.1218G>A|_NM_001304531.1:c.870G>A|_NM_016203.3:c.1593G>A|_NM_024429.1:c.870G>A;Coding_region_change_in_longest_transcript=,NM_016203.3:c.1593G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0020;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,18;GENEINFO_dbsnp_common_v150_hg19_refseq=,PRKAG2:51422;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:51422;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:51422;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:9386;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:9386;Homo_sapiens_refseq_GRCh37.p13_Genes=,PRKAG2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_024429.1|NM_001304531.1|NM_001304527.1|NM_001040633.1|NM_016203.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene17338;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna24688|rna24687|rna24686|rna24685|rna24684;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:602743;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:602743;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene17338;QUAL=,122.9964354360666;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,151257695;RS_dbsnp_common_v150_hg19_refseq=,148197254;Read_count=,20;Read_coverage=,40;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.7512831602468651;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_024429.1|NM_001304531.1|NM_001304527.1|NM_001040633.1|NM_016203.3;Reverse_read_coverage=,22;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=0;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.997287|0.0027131;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050268000305040036100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:51422|HGNC:HGNC:9386|MIM:602743;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_024429.1|Genbank:NM_001304531.1|Genbank:NM_001304527.1|Genbank:NM_001040633.1|Genbank:NM_016203.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_kinase_AMP-activated_non-catalytic_subunit_gamma_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,PRKAG2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,PRKAG2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,AAKG|AAKG2|CMH6|H91620p|WPWS;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,protein_kinase_AMP-activated_non-catalytic_subunit_gamma_2|_transcript_variant_b|protein_kinase_AMP-activated_non-catalytic_subunit_gamma_2|_transcript_variant_e|protein_kinase_AMP-activated_non-catalytic_subunit_gamma_2|_transcript_variant_d|protein_kinase_AMP-activated_non-catalytic_subunit_gamma_2|_transcript_variant_c|protein_kinase_AMP-activated_non-catalytic_subunit_gamma_2|_transcript_variant_a;transcript_id=,NM_024429.1|NM_001304531.1|NM_001304527.1|NM_001040633.1|NM_016203.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=PRKAG2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=PRKAG2:NM_024429:exon11:c.G870A:p.R290R,PRKAG2:NM_001304531:exon12:c.G870A:p.R290R,PRKAG2:NM_001304527:exon13:c.G1218A:p.R406R,PRKAG2:NM_001040633:exon15:c.G1461A:p.R487R,PRKAG2:NM_016203:exon15:c.G1593A:p.R531R;cytoBand=7q36.1;genomicSuperDups=.;esp6500siv2_all=0.0035;esp6500siv2_ea=0.005;esp6500siv2_all=0.0035;esp6500siv2_ea=0.005;1000g2015aug_all=0.00139776;avsnp147=rs148197254;Kaviar_AF=0.0032988;Kaviar_AC=510;Kaviar_AN=154602;ExAC_ALL=0.0031;ExAC_AFR=0.0009;ExAC_AMR=0.0017;ExAC_EAS=0;ExAC_FIN=0.0008;ExAC_NFE=0.0050;ExAC_OTH=0.0033;ExAC_SAS=0.0004;CLNALLELEID=45357;CLNDN=Cardiomyopathy|Wolff-Parkinson-White_syndrome|Glycogen_storage_disease_of_heart,_lethal_congenital|not_specified|Cardiovascular_phenotype|Familial_Hypertrophic_Cardiomyopathy_with_Wolff-Parkinson-White_Syndrome;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001716,MedGen:C1963282|MedGen:C1849813,OMIM:261740,Orphanet:ORPHA439854|MedGen:CN169374|MedGen:CN230736|MedGen:CN239247;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.4340;dpsi_zscore=1.061;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0034;gnomAD_exome_AFR=0.0007;gnomAD_exome_AMR=0.0025;gnomAD_exome_ASJ=0.0069;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0007;gnomAD_exome_NFE=0.0056;gnomAD_exome_OTH=0.0040;gnomAD_exome_SAS=0.0006;gnomAD_genome_ALL=0.0028;gnomAD_genome_AFR=0.0008;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0.0199;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0011;gnomAD_genome_NFE=0.0047;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:DP:CLCAD2 1:34:0,18 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 7 151372549 . C T 200.00 . #_unique_end_positions=,52;#_unique_start_positions=,40;AC=1;AN=1;Amino_acid_change=,NP_057287.2:p.Arg214Lys|_NP_001035723.1:p.Arg170Lys|_NP_001291456.1:p.Arg90Lys;Amino_acid_change_in_longest_transcript=,NP_057287.2:p.Arg214Lys;BaseQRankSum=,-0.01;Coding_region_change=,NM_001040633.1:c.509G>A|_NM_001304527.1:c.269G>A|_NM_016203.3:c.641G>A;Coding_region_change_in_longest_transcript=,NM_016203.3:c.641G>A;Forward_read_coverage=,70;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:51422;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:51422;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:9386;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:9386;Homo_sapiens_refseq_GRCh37.p13_Genes=,PRKAG2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001304527.1|NM_001040633.1|NM_016203.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene17338;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna24686|rna24685|rna24684;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:602743;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:602743;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene17338;QUAL=,200.0;Read_count=,83;Read_coverage=,168;Read_direction_test_probability=,0.8807200065765275;Read_position_test_probability=,0.928083323009332;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001304527.1|NM_001040633.1|NM_016203.3;Reverse_read_coverage=,98;SF=29;conservation_score=,0.499;db_xref=,GeneID:51422|HGNC:HGNC:9386|MIM:602743;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001304527.1|Genbank:NM_001040633.1|Genbank:NM_016203.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_kinase_AMP-activated_non-catalytic_subunit_gamma_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,PRKAG2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,PRKAG2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,AAKG|AAKG2|CMH6|H91620p|WPWS;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,protein_kinase_AMP-activated_non-catalytic_subunit_gamma_2|_transcript_variant_d|protein_kinase_AMP-activated_non-catalytic_subunit_gamma_2|_transcript_variant_c|protein_kinase_AMP-activated_non-catalytic_subunit_gamma_2|_transcript_variant_a;transcript_id=,NM_001304527.1|NM_001040633.1|NM_016203.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=PRKAG2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PRKAG2:NM_001304527:exon2:c.G269A:p.R90K,PRKAG2:NM_001040633:exon4:c.G509A:p.R170K,PRKAG2:NM_016203:exon4:c.G641A:p.R214K;cytoBand=7q36.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs781267213;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=8.296e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.507e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.785;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.003;Polyphen2_HVAR_pred=B;LRT_score=0.040;LRT_pred=N;MutationTaster_score=0.998;MutationTaster_pred=N;MutationAssessor_score=-1.265;MutationAssessor_pred=N;FATHMM_score=-1.76;FATHMM_pred=D;PROVEAN_score=-0.06;PROVEAN_pred=N;VEST3_score=0.063;CADD_raw=0.501;CADD_phred=7.435;DANN_score=0.633;fathmm-MKL_coding_score=0.449;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.814;MetaSVM_pred=T;MetaLR_score=0.191;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=4.09;phyloP7way_vertebrate=0.033;phyloP20way_mammalian=0.852;phastCons7way_vertebrate=0.047;phastCons20way_mammalian=0.021;SiPhy_29way_logOdds=3.415;GDI_full_10282015=.;dpsi_max_tissue=2.3995;dpsi_zscore=2.087;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.063e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=8.961e-06;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:157:0,76 . . . . . . . . . . . . 8 11565926 . G T 65.68 . #_unique_end_positions=,11;#_unique_start_positions=,9;AC=1;AN=1;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;Coding_region_change=,NM_001308093.1:c.105G>T|_NM_001308094.1:c.-6+7639G>T|_NM_002052.4:c.105G>T;Coding_region_change_in_longest_transcript=,NM_002052.4:c.105G>T;Forward_read_coverage=,6;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:2626;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:2626;Genotype=,G/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:4173;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:4173;Homo_sapiens_refseq_GRCh37.p13_Genes=,GATA4;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_002052.4|NM_001308093.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene17585;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna24958|rna24959;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:600576;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:600576;Non-synonymous=,No;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene17585;QUAL=,65.68328150153586;Read_count=,16;Read_coverage=,28;Read_direction_test_probability=,0.9981834700730823;Read_position_test_probability=,0.9940808372520006;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_002052.4|NM_001308093.1;Reverse_read_coverage=,22;SF=33;conservation_score=,1.0;db_xref=,GeneID:2626|HGNC:HGNC:4173|MIM:600576;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:08994;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_002052.4|HPRD:08994|Genbank:NM_001308093.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GATA_binding_protein_4;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GATA4;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GATA4;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ASD2|TACHD|TOF|VSD1;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GATA_binding_protein_4|_transcript_variant_2|GATA_binding_protein_4|_transcript_variant_1;transcript_id=,NM_002052.4|NM_001308093.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GATA4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GATA4:NM_001308093:exon1:c.G105T:p.S35S,GATA4:NM_002052:exon2:c.G105T:p.S35S;cytoBand=8p23.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=1.188;CADD_phred=11.68;DANN_score=0.904;fathmm-MKL_coding_score=0.728;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.951;MetaSVM_pred=T;MetaLR_score=0.148;MetaLR_pred=T;integrated_fitCons_score=0.598;integrated_confidence_value=0;GERP++_RS=1.36;phyloP7way_vertebrate=-0.044;phyloP20way_mammalian=0.873;phastCons7way_vertebrate=0.993;phastCons20way_mammalian=0.905;SiPhy_29way_logOdds=3.385;GDI_full_10282015=.;dpsi_max_tissue=-0.0553;dpsi_zscore=-0.288;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:22:0,13 . . . . . . . . 8 11614575 44334;rs3729856 A G 200.00 . #_unique_end_positions=,46;#_unique_start_positions=,44;AC=10;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0098;AF_ESP_clinvar_20171029_hg19=,0.1006;AF_EXAC_clinvar_20171029_hg19=,0.09621;AF_TGP_clinvar_20171029_hg19=,0.0429;ALLELEID_clinvar_20171029_hg19=,53501;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0677;AN=10;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_002043.2:p.Ser377Gly|_NP_001295022.1:p.Ser378Gly|_NP_001295023.1:p.Ser171Gly;Amino_acid_change_in_longest_transcript=,NP_002043.2:p.Ser377Gly;BaseQRankSum=,0.1;CAF_dbsnp_common_v150_hg19_refseq=,0.9571|0.04293;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374|MedGen:CN517202;CLNDN_clinvar_20171029_hg19=,not_specified|not_provided;CLNHGVS_clinvar_20171029_hg19=,NC_000008.10:g.11614575A>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_conflicting_interpretations;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,UniProtKB_(protein):P43694#VAR_038196;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001308093.1:c.1132A>G|_NM_001308094.1:c.511A>G|_NM_002052.4:c.1129A>G;Coding_region_change_in_longest_transcript=,NM_002052.4:c.1129A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1193;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI;Forward_read_coverage=,84;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,GATA4:2626;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:2626;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:2626;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:4173;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:4173;Homo_sapiens_refseq_GRCh37.p13_Genes=,GATA4;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001308094.1|NM_002052.4|NM_001308093.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene17585;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna24957|rna24958|rna24959;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:600576;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:600576;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene17585;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,11614575;RS_dbsnp_common_v150_hg19_refseq=,3729856;Read_count=,97;Read_coverage=,222;Read_direction_test_probability=,0.926313184404166;Read_position_test_probability=,0.861887318068937;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001308094.1|NM_002052.4|NM_001308093.1;Reverse_read_coverage=,138;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0348;SF=8,10,13,22,26,29,32,36;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.927227|0.0727729;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050168000a0515053f100100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.0306122;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.110619;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.0170455;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.0166667;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.02;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.0594406;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.113636;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.991;db_xref=,GeneID:2626|HGNC:HGNC:4173|MIM:600576;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:08994;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001308094.1|HPRD:08994|Genbank:NM_002052.4|Genbank:NM_001308093.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GATA_binding_protein_4;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GATA4;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GATA4;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ASD2|TACHD|TOF|VSD1;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GATA_binding_protein_4|_transcript_variant_3|GATA_binding_protein_4|_transcript_variant_2|GATA_binding_protein_4|_transcript_variant_1;transcript_id=,NM_001308094.1|NM_002052.4|NM_001308093.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GATA4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=GATA4:NM_001308093:exon5:c.A1132G:p.S378G,GATA4:NM_001308094:exon6:c.A511G:p.S171G,GATA4:NM_002052:exon6:c.A1129G:p.S377G;cytoBand=8p23.1;genomicSuperDups=.;esp6500siv2_all=0.1006;esp6500siv2_ea=0.14;esp6500siv2_all=0.1006;esp6500siv2_ea=0.14;1000g2015aug_all=0.0429313;avsnp147=rs3729856;Kaviar_AF=0.0944554;Kaviar_AC=14603;Kaviar_AN=154602;ExAC_ALL=0.0962;ExAC_AFR=0.0204;ExAC_AMR=0.0407;ExAC_EAS=0.0006;ExAC_FIN=0.1405;ExAC_NFE=0.1354;ExAC_OTH=0.1247;ExAC_SAS=0.0556;CLNALLELEID=53501;CLNDN=not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.566;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.051;LRT_pred=N;MutationTaster_score=0.402;MutationTaster_pred=P;MutationAssessor_score=1.32;MutationAssessor_pred=L;FATHMM_score=-4.73;FATHMM_pred=D;PROVEAN_score=0.67;PROVEAN_pred=N;VEST3_score=0.181;CADD_raw=0.793;CADD_phred=9.418;DANN_score=0.972;fathmm-MKL_coding_score=0.521;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.395;MetaSVM_pred=T;MetaLR_score=0.047;MetaLR_pred=T;integrated_fitCons_score=0.517;integrated_confidence_value=0;GERP++_RS=0.906;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=-0.670;phastCons7way_vertebrate=0.997;phastCons20way_mammalian=0.884;SiPhy_29way_logOdds=1.707;GDI_full_10282015=.;dpsi_max_tissue=0.9106;dpsi_zscore=1.466;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM164458#"Atrial_septal_defect_hypoplastic_aortic_arch_and_dysmorphic_features";gnomAD_exome_ALL=0.0958;gnomAD_exome_AFR=0.0187;gnomAD_exome_AMR=0.0410;gnomAD_exome_ASJ=0.1767;gnomAD_exome_EAS=0.0005;gnomAD_exome_FIN=0.1458;gnomAD_exome_NFE=0.1309;gnomAD_exome_OTH=0.1108;gnomAD_exome_SAS=0.0554;gnomAD_genome_ALL=0.1060;gnomAD_genome_AFR=0.0196;gnomAD_genome_AMR=0.0501;gnomAD_genome_ASJ=0.1788;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.1382;gnomAD_genome_NFE=0.1595;gnomAD_genome_OTH=0.1436;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . 1:207:0,88 . 1/1:268:0,268 . . 1:267:0,126 . . . . . . . . 1/1:315:0,315 . . . 1:220:0,102 . . 1:269:0,138 . . 1:196:0,93 . . . 1:153:0,75 . . . . . 8 74888616 130598;rs8075 G C 200.00 . #_unique_end_positions=,51;#_unique_start_positions=,44;AC=11;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2595;AF_ESP_clinvar_20171029_hg19=,0.1727;AF_EXAC_clinvar_20171029_hg19=,0.17695;AF_TGP_clinvar_20171029_hg19=,0.1761;ALLELEID_clinvar_20171029_hg19=,136044;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1715;AN=11;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_060336.3:p.Ala34Pro|_NP_001035703.1:p.Ala34Pro;Amino_acid_change_in_longest_transcript=,NP_001035703.1:p.Ala34Pro;BaseQRankSum=,0.11;CAF_dbsnp_common_v150_hg19_refseq=,0.8239|0.1761;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374|MedGen:CN239153;CLNDN_clinvar_20171029_hg19=,not_specified|Mitochondrial_Complex_V_(ATP_Synthase)_Deficiency|_Nuclear_Type;CLNHGVS_clinvar_20171029_hg19=,NC_000008.10:g.74888616G>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:44055|UniProtKB_(protein):Q9BUB7#VAR_027686;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001040613.2:c.100G>C|_NM_001204857.1:c.-4187C>G|_NM_001204858.1:c.-4498C>G|_NM_001204859.1:c.-4494C>G|_NM_001204860.1:c.-4326C>G|_NM_001204861.1:c.-4757C>G|_NM_001204862.1:c.-4618C>G|_NM_001204863.1:c.-4349C>G|_NM_001204864.1:c.-4181C>G|_NM_005648.3:c.-4355C>G|_NM_017866.5:c.100G>C;Coding_region_change_in_longest_transcript=,NM_001040613.2:c.100G>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1171;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1491;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,161;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TMEM70:54968;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:54968;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:54968;Genotype=,C/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:26050;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:26050;Homo_sapiens_refseq_GRCh37.p13_Genes=,TMEM70;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_017866.5|NM_001040613.2|NR_033334.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene18285;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna25937|rna25935|rna25936;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:612418;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:612418;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene18285;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,74888616;RS_dbsnp_common_v150_hg19_refseq=,8075;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,113;Read_coverage=,241;Read_direction_test_probability=,0.9843244092953052;Read_position_test_probability=,0.991629512568977;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_017866.5|NM_001040613.2|NR_033334.1;Reverse_read_coverage=,80;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1554;SF=3,7,9,14,20,21,24,26,30,32,39;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.798956|0.201044;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050160000a05170136100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.002;db_xref=,GeneID:54968|HGNC:HGNC:26050|MIM:612418;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:07923;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_017866.5|HPRD:07923|Genbank:NM_001040613.2|Genbank:NR_033334.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,transmembrane_protein_70;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA|misc_RNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TMEM70;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TMEM70;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MC5DN2;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,transmembrane_protein_70|_transcript_variant_1|transmembrane_protein_70|_transcript_variant_2|transmembrane_protein_70|_transcript_variant_3;transcript_id=,NM_017866.5|NM_001040613.2|NR_033334.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA|transcript;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TMEM70;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TMEM70:NM_001040613:exon1:c.G100C:p.A34P,TMEM70:NM_017866:exon1:c.G100C:p.A34P;cytoBand=8q21.11;genomicSuperDups=.;esp6500siv2_all=0.1727;esp6500siv2_ea=0.1301;esp6500siv2_all=0.1727;esp6500siv2_ea=0.1301;1000g2015aug_all=0.176118;avsnp147=rs8075;Kaviar_AF=0.0007309;Kaviar_AC=113;Kaviar_AN=154602;ExAC_ALL=0.1770;ExAC_AFR=0.309;ExAC_AMR=0.1743;ExAC_EAS=0.1045;ExAC_FIN=0.1368;ExAC_NFE=0.1674;ExAC_OTH=0.1922;ExAC_SAS=0.1836;CLNALLELEID=136044;CLNDN=not_specified|Mitochondrial_Complex_V_(ATP_Synthase)_Deficiency,_Nuclear_Type;CLNDISDB=MedGen:CN169374|MedGen:CN239153;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.06;SIFT_pred=T;Polyphen2_HDIV_score=0.971;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.775;Polyphen2_HVAR_pred=P;LRT_score=0.985;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.695;MutationAssessor_pred=N;FATHMM_score=1.09;FATHMM_pred=T;PROVEAN_score=-1.3;PROVEAN_pred=N;VEST3_score=0.206;CADD_raw=2.230;CADD_phred=17.71;DANN_score=0.995;fathmm-MKL_coding_score=0.215;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.016;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.442;integrated_confidence_value=0;GERP++_RS=2.71;phyloP7way_vertebrate=-0.273;phyloP20way_mammalian=0.071;phastCons7way_vertebrate=0.002;phastCons20way_mammalian=0.000;SiPhy_29way_logOdds=7.481;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1444;gnomAD_exome_AFR=0.2686;gnomAD_exome_AMR=0.1284;gnomAD_exome_ASJ=0.2687;gnomAD_exome_EAS=0.0822;gnomAD_exome_FIN=0.0946;gnomAD_exome_NFE=0.1316;gnomAD_exome_OTH=0.1691;gnomAD_exome_SAS=0.1609;gnomAD_genome_ALL=0.1663;gnomAD_genome_AFR=0.2735;gnomAD_genome_AMR=0.1451;gnomAD_genome_ASJ=0.2649;gnomAD_genome_EAS=0.0984;gnomAD_genome_FIN=0.0999;gnomAD_genome_NFE=0.1276;gnomAD_genome_OTH=0.1445;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . 1:209:0,97 . . . 1:145:0,77 . 1:131:0,55 . . . . 1:222:0,116 . . . . . 1:119:0,62 1:142:0,69 . . 1:232:0,116 . 1:118:0,61 . . . 1:197:0,94 . 1:128:0,72 . . . . . . 1:189:0,88 . . 8 74893419 130599;rs61732273 C G 75.12 . #_unique_end_positions=,5;#_unique_start_positions=,5;AC=8;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0257;AF_ESP_clinvar_20171029_hg19=,0.0175;AF_EXAC_clinvar_20171029_hg19=,0.02350;AF_TGP_clinvar_20171029_hg19=,0.0228;ALLELEID_clinvar_20171029_hg19=,136045;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0159;AN=8;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_060336.3:p.Leu116Val;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.9772|0.02276;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374|MedGen:CN239153;CLNDN_clinvar_20171029_hg19=,not_specified|Mitochondrial_Complex_V_(ATP_Synthase)_Deficiency|_Nuclear_Type;CLNHGVS_clinvar_20171029_hg19=,NC_000008.10:g.74893419C>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:72417;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001040613.2:c.*36C>G|_NM_017866.5:c.346C>G;Coding_region_change_in_longest_transcript=,NM_001040613.2:c.*36C>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0198;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0189;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,21;GENEINFO_dbsnp_common_v150_hg19_refseq=,TMEM70:54968;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:54968;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:54968;Genotype=,C/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:26050;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:26050;Homo_sapiens_refseq_GRCh37.p13_Genes=,TMEM70;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_017866.5|NM_001040613.2|NR_033334.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene18285;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna25937|rna25935|rna25936;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant|SO:0001624|3_prime_UTR_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:612418;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:612418;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene18285;QUAL=,12.706295743046926;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,74893419;RS_dbsnp_common_v150_hg19_refseq=,61732273;Read_count=,7;Read_coverage=,28;Read_direction_test_probability=,0.9966445310997035;Read_position_test_probability=,0.6795065813988248;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_017866.5|NM_001040613.2|NR_033334.1;Reverse_read_coverage=,7;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0307;SF=3,4,5,10,27,28,34;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.985816|0.0141837;U3_dbsnp_common_v150_hg19_refseq=,U3;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050160800a05140536100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.134;db_xref=,GeneID:54968|HGNC:HGNC:26050|MIM:612418;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:07923;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_017866.5|HPRD:07923|Genbank:NM_001040613.2|Genbank:NR_033334.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,transmembrane_protein_70;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA|misc_RNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TMEM70;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TMEM70;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MC5DN2;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,transmembrane_protein_70|_transcript_variant_1|transmembrane_protein_70|_transcript_variant_2|transmembrane_protein_70|_transcript_variant_3;transcript_id=,NM_017866.5|NM_001040613.2|NR_033334.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA|transcript;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TMEM70;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TMEM70:NM_017866:exon3:c.C346G:p.L116V;cytoBand=8q21.11;genomicSuperDups=.;esp6500siv2_all=0.0175;esp6500siv2_ea=0.0177;esp6500siv2_all=0.0175;esp6500siv2_ea=0.0177;1000g2015aug_all=0.0227636;avsnp147=rs61732273;Kaviar_AF=0.0223218;Kaviar_AC=3451;Kaviar_AN=154602;ExAC_ALL=0.0235;ExAC_AFR=0.0174;ExAC_AMR=0.0163;ExAC_EAS=0.0186;ExAC_FIN=0.0472;ExAC_NFE=0.0202;ExAC_OTH=0.0243;ExAC_SAS=0.0388;CLNALLELEID=136045;CLNDN=Nuclearly-encoded_mitochondrial_complex_V_(ATP_synthase)_deficiency_2|not_specified|Mitochondrial_Complex_V_(ATP_Synthase)_Deficiency,_Nuclear_Type;CLNDISDB=MedGen:C3279699,OMIM:614052,Orphanet:ORPHA1194|MedGen:CN169374|MedGen:CN239153;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.035;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.027;Polyphen2_HVAR_pred=B;LRT_score=0.229;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0.855;MutationAssessor_pred=L;FATHMM_score=-0.06;FATHMM_pred=T;PROVEAN_score=-0.66;PROVEAN_pred=N;VEST3_score=0.076;CADD_raw=-2.907;CADD_phred=0.001;DANN_score=0.501;fathmm-MKL_coding_score=0.027;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.988;MetaSVM_pred=T;MetaLR_score=0.025;MetaLR_pred=T;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=-9.73;phyloP7way_vertebrate=-0.900;phyloP20way_mammalian=-0.476;phastCons7way_vertebrate=0.438;phastCons20way_mammalian=0.313;SiPhy_29way_logOdds=1.839;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0237;gnomAD_exome_AFR=0.0182;gnomAD_exome_AMR=0.0165;gnomAD_exome_ASJ=0.0249;gnomAD_exome_EAS=0.0169;gnomAD_exome_FIN=0.0458;gnomAD_exome_NFE=0.0193;gnomAD_exome_OTH=0.0261;gnomAD_exome_SAS=0.0370;gnomAD_genome_ALL=0.0233;gnomAD_genome_AFR=0.0181;gnomAD_genome_AMR=0.0155;gnomAD_genome_ASJ=0.0364;gnomAD_genome_EAS=0.0179;gnomAD_genome_FIN=0.0429;gnomAD_genome_NFE=0.0219;gnomAD_genome_OTH=0.0305;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . 1:27:0,6 1:15:0,4 1:38:0,23 . . . . 1:28:0,11 . . . . . . . . . . . . . . . . 1:41:0,23 1:59:0,18 . . . . . 1/1:30:0,30 . . . . . . . 8 74893452 137678;rs61734099 A G 153.53 . #_unique_end_positions=,16;#_unique_start_positions=,15;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0023;AF_ESP_clinvar_20171029_hg19=,0.0013;AF_EXAC_clinvar_20171029_hg19=,0.02421;AF_TGP_clinvar_20171029_hg19=,0.0290;ALLELEID_clinvar_20171029_hg19=,141381;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1643;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_060336.3:p.Thr127Ala;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.01;CAF_dbsnp_common_v150_hg19_refseq=,0.971|0.02895;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374|MedGen:CN239153;CLNDN_clinvar_20171029_hg19=,not_specified|Mitochondrial_Complex_V_(ATP_Synthase)_Deficiency|_Nuclear_Type;CLNHGVS_clinvar_20171029_hg19=,NC_000008.10:g.74893452A>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:72799;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001040613.2:c.*69A>G|_NM_017866.5:c.379A>G;Coding_region_change_in_longest_transcript=,NM_001040613.2:c.*69A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0089;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,23;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TMEM70:54968;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:54968;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:54968;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:26050;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:26050;Homo_sapiens_refseq_GRCh37.p13_Genes=,TMEM70;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_017866.5|NM_001040613.2|NR_033334.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene18285;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna25937|rna25935|rna25936;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant|SO:0001624|3_prime_UTR_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:612418;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:612418;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene18285;QUAL=,153.5252977886304;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,74893452;RS_dbsnp_common_v150_hg19_refseq=,61734099;Read_count=,24;Read_coverage=,48;Read_direction_test_probability=,0.9861802971792375;Read_position_test_probability=,0.9271317359649971;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_017866.5|NM_001040613.2|NR_033334.1;Reverse_read_coverage=,25;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0194;SF=25;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.99059|0.00940999;U3_dbsnp_common_v150_hg19_refseq=,U3;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050060800a05150536100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.349;db_xref=,GeneID:54968|HGNC:HGNC:26050|MIM:612418;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:07923;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_017866.5|HPRD:07923|Genbank:NM_001040613.2|Genbank:NR_033334.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,transmembrane_protein_70;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA|misc_RNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TMEM70;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TMEM70;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MC5DN2;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,transmembrane_protein_70|_transcript_variant_1|transmembrane_protein_70|_transcript_variant_2|transmembrane_protein_70|_transcript_variant_3;transcript_id=,NM_017866.5|NM_001040613.2|NR_033334.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA|transcript;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TMEM70;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TMEM70:NM_017866:exon3:c.A379G:p.T127A;cytoBand=8q21.11;genomicSuperDups=.;esp6500siv2_all=0.0013;esp6500siv2_ea=0.0007;esp6500siv2_all=0.0013;esp6500siv2_ea=0.0007;1000g2015aug_all=0.0289537;avsnp147=rs61734099;Kaviar_AF=0.0228522;Kaviar_AC=3533;Kaviar_AN=154602;ExAC_ALL=0.0242;ExAC_AFR=0.0029;ExAC_AMR=0.2161;ExAC_EAS=0.0118;ExAC_FIN=0.0002;ExAC_NFE=0.0006;ExAC_OTH=0.0132;ExAC_SAS=0.0152;CLNALLELEID=141381;CLNDN=Nuclearly-encoded_mitochondrial_complex_V_(ATP_synthase)_deficiency_2|not_specified|Mitochondrial_Complex_V_(ATP_Synthase)_Deficiency,_Nuclear_Type;CLNDISDB=MedGen:C3279699,OMIM:614052,Orphanet:ORPHA1194|MedGen:CN169374|MedGen:CN239153;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.814;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.003;Polyphen2_HVAR_pred=B;LRT_score=0.154;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-0.41;MutationAssessor_pred=N;FATHMM_score=-0.01;FATHMM_pred=T;PROVEAN_score=0.12;PROVEAN_pred=N;VEST3_score=0.023;CADD_raw=-1.768;CADD_phred=0.002;DANN_score=0.556;fathmm-MKL_coding_score=0.523;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.072;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=1.03;phyloP7way_vertebrate=-0.739;phyloP20way_mammalian=-0.823;phastCons7way_vertebrate=0.109;phastCons20way_mammalian=0.003;SiPhy_29way_logOdds=2.593;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0322;gnomAD_exome_AFR=0.0021;gnomAD_exome_AMR=0.2102;gnomAD_exome_ASJ=0.0015;gnomAD_exome_EAS=0.0103;gnomAD_exome_FIN=4.486e-05;gnomAD_exome_NFE=0.0002;gnomAD_exome_OTH=0.0318;gnomAD_exome_SAS=0.0146;gnomAD_genome_ALL=0.0065;gnomAD_genome_AFR=0.0026;gnomAD_genome_AMR=0.1794;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0.0130;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0.0061;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . 1:41:0,20 . . . . . . . . . . . . . . . . 8 74893653 218747;rs77410280 G A 151.17 . #_unique_end_positions=,17;#_unique_start_positions=,17;AC=4;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0008;AF_ESP_clinvar_20171029_hg19=,0.0110;AF_EXAC_clinvar_20171029_hg19=,0.01216;AF_TGP_clinvar_20171029_hg19=,0.0072;ALLELEID_clinvar_20171029_hg19=,215388;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0058;AN=4;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_060336.3:p.Val194Met;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.22;CAF_dbsnp_common_v150_hg19_refseq=,0.9928|0.007188;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000008.10:g.74893653G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_single_submitter;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001040613.2:c.*270G>A|_NM_017866.5:c.580G>A;Coding_region_change_in_longest_transcript=,NM_001040613.2:c.*270G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0268;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,35;GENEINFO_dbsnp_common_v150_hg19_refseq=,TMEM70:54968;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:54968;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:54968;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:26050;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:26050;Homo_sapiens_refseq_GRCh37.p13_Genes=,TMEM70;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_017866.5|NM_001040613.2|NR_033334.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene18285;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna25937|rna25935|rna25936;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant|SO:0001624|3_prime_UTR_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:612418;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:612418;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,0;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene18285;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,74893653;RS_dbsnp_common_v150_hg19_refseq=,77410280;Read_count=,36;Read_coverage=,66;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9398143000039003;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_017866.5|NM_001040613.2|NR_033334.1;Reverse_read_coverage=,31;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0041;SF=22,23,31,38;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.990899|0.0091009;U3_dbsnp_common_v150_hg19_refseq=,U3;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050100800a05040536000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.994;db_xref=,GeneID:54968|HGNC:HGNC:26050|MIM:612418;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:07923;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_017866.5|HPRD:07923|Genbank:NM_001040613.2|Genbank:NR_033334.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,transmembrane_protein_70;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA|misc_RNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TMEM70;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TMEM70;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MC5DN2;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,transmembrane_protein_70|_transcript_variant_1|transmembrane_protein_70|_transcript_variant_2|transmembrane_protein_70|_transcript_variant_3;transcript_id=,NM_017866.5|NM_001040613.2|NR_033334.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA|transcript;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TMEM70;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TMEM70:NM_017866:exon3:c.G580A:p.V194M;cytoBand=8q21.11;genomicSuperDups=.;esp6500siv2_all=0.0110;esp6500siv2_ea=0.0156;esp6500siv2_all=0.0110;esp6500siv2_ea=0.0156;1000g2015aug_all=0.0071885;avsnp147=rs77410280;Kaviar_AF=0.0122896;Kaviar_AC=1900;Kaviar_AN=154602;ExAC_ALL=0.0122;ExAC_AFR=0.0018;ExAC_AMR=0.0065;ExAC_EAS=0;ExAC_FIN=0.0180;ExAC_NFE=0.0170;ExAC_OTH=0.0110;ExAC_SAS=0.0072;CLNALLELEID=215388;CLNDN=Nuclearly-encoded_mitochondrial_complex_V_(ATP_synthase)_deficiency_2|not_specified;CLNDISDB=MedGen:C3279699,OMIM:614052,Orphanet:ORPHA1194|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.038;SIFT_pred=D;Polyphen2_HDIV_score=0.922;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.759;Polyphen2_HVAR_pred=P;LRT_score=0.057;LRT_pred=N;MutationTaster_score=0.946;MutationTaster_pred=D;MutationAssessor_score=2.095;MutationAssessor_pred=M;FATHMM_score=-0.13;FATHMM_pred=T;PROVEAN_score=-1.59;PROVEAN_pred=N;VEST3_score=0.098;CADD_raw=0.759;CADD_phred=9.206;DANN_score=0.995;fathmm-MKL_coding_score=0.941;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.568;MetaSVM_pred=T;MetaLR_score=0.156;MetaLR_pred=T;integrated_fitCons_score=0.719;integrated_confidence_value=0;GERP++_RS=3.56;phyloP7way_vertebrate=0.015;phyloP20way_mammalian=0.132;phastCons7way_vertebrate=0.975;phastCons20way_mammalian=0.961;SiPhy_29way_logOdds=14.893;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0125;gnomAD_exome_AFR=0.0021;gnomAD_exome_AMR=0.0064;gnomAD_exome_ASJ=0.0377;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0198;gnomAD_exome_NFE=0.0154;gnomAD_exome_OTH=0.0142;gnomAD_exome_SAS=0.0069;gnomAD_genome_ALL=0.0119;gnomAD_genome_AFR=0.0023;gnomAD_genome_AMR=0.0084;gnomAD_genome_ASJ=0.0265;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0172;gnomAD_genome_NFE=0.0173;gnomAD_genome_OTH=0.0163;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . 1:50:0,27 1:50:0,20 . . . . . . . 1:48:0,25 . . . . . . 1:32:0,12 . . . 8 74893821 130600;rs1053079 A G 63.06 . #_unique_end_positions=,7;#_unique_start_positions=,7;AC=13;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3971;AF_ESP_clinvar_20171029_hg19=,0.2237;AF_EXAC_clinvar_20171029_hg19=,0.20121;AF_TGP_clinvar_20171029_hg19=,0.2590;ALLELEID_clinvar_20171029_hg19=,136046;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3631;AN=13;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_060336.3:p.Thr250Ala;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.741|0.259;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374|MedGen:CN239153;CLNDN_clinvar_20171029_hg19=,not_specified|Mitochondrial_Complex_V_(ATP_Synthase)_Deficiency|_Nuclear_Type;CLNHGVS_clinvar_20171029_hg19=,NC_000008.10:g.74893821A>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_single_submitter;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:44082|UniProtKB_(protein):Q9BUB7#VAR_027687;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001040613.2:c.*438A>G|_NM_017866.5:c.748A>G;Coding_region_change_in_longest_transcript=,NM_001040613.2:c.*438A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1478;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1690;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,7;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TMEM70:54968;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:54968;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:54968;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:26050;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:26050;Homo_sapiens_refseq_GRCh37.p13_Genes=,TMEM70;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_017866.5|NM_001040613.2|NR_033334.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene18285;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna25937|rna25935|rna25936;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant|SO:0001624|3_prime_UTR_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:612418;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:612418;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene18285;QUAL=,41.40294766712745;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,74893821;RS_dbsnp_common_v150_hg19_refseq=,1053079;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,7;Read_coverage=,24;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.757691801489782;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_017866.5|NM_001040613.2|NR_033334.1;Reverse_read_coverage=,17;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2055;SF=4,7,9,10,11,18,21,24,27,28,32,34;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.735421|0.264579;U3_dbsnp_common_v150_hg19_refseq=,U3;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050160800a05150537100100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.346939;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.15;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.097561;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.0941176;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.170455;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.166667;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.155556;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.516667;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.4;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.534965;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.210227;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.408333;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.0;db_xref=,GeneID:54968|HGNC:HGNC:26050|MIM:612418;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:07923;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_017866.5|HPRD:07923|Genbank:NM_001040613.2|Genbank:NR_033334.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,transmembrane_protein_70;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA|misc_RNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TMEM70;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TMEM70;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MC5DN2;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,transmembrane_protein_70|_transcript_variant_1|transmembrane_protein_70|_transcript_variant_2|transmembrane_protein_70|_transcript_variant_3;transcript_id=,NM_017866.5|NM_001040613.2|NR_033334.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA|transcript;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TMEM70;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TMEM70:NM_017866:exon3:c.A748G:p.T250A;cytoBand=8q21.11;genomicSuperDups=.;esp6500siv2_all=0.2237;esp6500siv2_ea=0.1556;esp6500siv2_all=0.2237;esp6500siv2_ea=0.1556;1000g2015aug_all=0.258986;avsnp147=rs1053079;Kaviar_AF=0.195114;Kaviar_AC=30165;Kaviar_AN=154602;ExAC_ALL=0.2012;ExAC_AFR=0.3721;ExAC_AMR=0.3657;ExAC_EAS=0.1152;ExAC_FIN=0.1413;ExAC_NFE=0.1603;ExAC_OTH=0.1962;ExAC_SAS=0.2183;CLNALLELEID=136046;CLNDN=not_specified|Mitochondrial_Complex_V_(ATP_Synthase)_Deficiency,_Nuclear_Type;CLNDISDB=MedGen:CN169374|MedGen:CN239153;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=0.772;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.034;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.12;MutationAssessor_pred=N;FATHMM_score=1.31;FATHMM_pred=T;PROVEAN_score=0.51;PROVEAN_pred=N;VEST3_score=0.02;CADD_raw=-3.329;CADD_phred=0.001;DANN_score=0.180;fathmm-MKL_coding_score=0.014;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.969;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.719;integrated_confidence_value=0;GERP++_RS=-2.28;phyloP7way_vertebrate=-2.904;phyloP20way_mammalian=-0.936;phastCons7way_vertebrate=0.304;phastCons20way_mammalian=0.005;SiPhy_29way_logOdds=3.487;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2066;gnomAD_exome_AFR=0.3718;gnomAD_exome_AMR=0.3611;gnomAD_exome_ASJ=0.3136;gnomAD_exome_EAS=0.1107;gnomAD_exome_FIN=0.1408;gnomAD_exome_NFE=0.1522;gnomAD_exome_OTH=0.2289;gnomAD_exome_SAS=0.2138;gnomAD_genome_ALL=0.2195;gnomAD_genome_AFR=0.3722;gnomAD_genome_AMR=0.3508;gnomAD_genome_ASJ=0.3311;gnomAD_genome_EAS=0.1310;gnomAD_genome_FIN=0.1428;gnomAD_genome_NFE=0.1506;gnomAD_genome_OTH=0.1888;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . 1:22:0,7 . . 1:17:0,6 . 1:28:0,7 1:31:0,10 1:17:0,7 . . . . . . 1:23:0,11 . . 1:39:0,18 . . 1:28:0,7 . . 1:33:0,14 1:22:0,8 . . . 1:22:0,8 . 1/1:17:0,17 . . . . . . . 8 74893850 130601;rs1053077 C G 49.65 . #_unique_end_positions=,5;#_unique_start_positions=,5;AC=12;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3971;AF_ESP_clinvar_20171029_hg19=,0.2205;AF_EXAC_clinvar_20171029_hg19=,0.20108;AF_TGP_clinvar_20171029_hg19=,0.2590;ALLELEID_clinvar_20171029_hg19=,136047;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3631;AN=12;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_060336.3:p.Asp259Glu;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.67;CAF_dbsnp_common_v150_hg19_refseq=,0.741|0.259;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374|MedGen:CN239153;CLNDN_clinvar_20171029_hg19=,not_specified|Mitochondrial_Complex_V_(ATP_Synthase)_Deficiency|_Nuclear_Type;CLNHGVS_clinvar_20171029_hg19=,NC_000008.10:g.74893850C>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_single_submitter;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:44095|UniProtKB_(protein):Q9BUB7#VAR_027688;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001040613.2:c.*467C>G|_NM_017866.5:c.777C>G;Coding_region_change_in_longest_transcript=,NM_001040613.2:c.*467C>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1478;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1690;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,3;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TMEM70:54968;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:54968;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:54968;Genotype=,C/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:26050;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:26050;Homo_sapiens_refseq_GRCh37.p13_Genes=,TMEM70;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_017866.5|NM_001040613.2|NR_033334.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene18285;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna25937|rna25935|rna25936;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant|SO:0001624|3_prime_UTR_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:612418;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:612418;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene18285;QUAL=,36.34570989579652;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,74893850;RS_dbsnp_common_v150_hg19_refseq=,1053077;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,5;Read_coverage=,15;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9393812786986788;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_017866.5|NM_001040613.2|NR_033334.1;Reverse_read_coverage=,12;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2055;SF=4,7,9,10,11,18,21,24,27,32,34;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.735421|0.264579;U3_dbsnp_common_v150_hg19_refseq=,U3;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050160800a05150537100100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.15;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.166667;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.155556;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.408333;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.357;db_xref=,GeneID:54968|HGNC:HGNC:26050|MIM:612418;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:07923;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_017866.5|HPRD:07923|Genbank:NM_001040613.2|Genbank:NR_033334.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,transmembrane_protein_70;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA|misc_RNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TMEM70;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TMEM70;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MC5DN2;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,transmembrane_protein_70|_transcript_variant_1|transmembrane_protein_70|_transcript_variant_2|transmembrane_protein_70|_transcript_variant_3;transcript_id=,NM_017866.5|NM_001040613.2|NR_033334.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA|transcript;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TMEM70;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TMEM70:NM_017866:exon3:c.C777G:p.D259E;cytoBand=8q21.11;genomicSuperDups=.;esp6500siv2_all=0.2205;esp6500siv2_ea=0.1556;esp6500siv2_all=0.2205;esp6500siv2_ea=0.1556;1000g2015aug_all=0.258986;avsnp147=rs1053077;Kaviar_AF=0.192999;Kaviar_AC=29838;Kaviar_AN=154602;ExAC_ALL=0.2011;ExAC_AFR=0.3724;ExAC_AMR=0.3642;ExAC_EAS=0.1151;ExAC_FIN=0.1404;ExAC_NFE=0.1605;ExAC_OTH=0.1957;ExAC_SAS=0.2183;CLNALLELEID=136047;CLNDN=not_specified|Mitochondrial_Complex_V_(ATP_Synthase)_Deficiency,_Nuclear_Type;CLNDISDB=MedGen:CN169374|MedGen:CN239153;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.044;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.95;MutationAssessor_pred=N;FATHMM_score=1.35;FATHMM_pred=T;PROVEAN_score=0.75;PROVEAN_pred=N;VEST3_score=0.04;CADD_raw=-1.736;CADD_phred=0.002;DANN_score=0.498;fathmm-MKL_coding_score=0.045;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.953;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.719;integrated_confidence_value=0;GERP++_RS=-1.73;phyloP7way_vertebrate=-2.247;phyloP20way_mammalian=-0.203;phastCons7way_vertebrate=0.464;phastCons20way_mammalian=0.085;SiPhy_29way_logOdds=0.924;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2068;gnomAD_exome_AFR=0.3722;gnomAD_exome_AMR=0.3605;gnomAD_exome_ASJ=0.3124;gnomAD_exome_EAS=0.1103;gnomAD_exome_FIN=0.1409;gnomAD_exome_NFE=0.1516;gnomAD_exome_OTH=0.2286;gnomAD_exome_SAS=0.2135;gnomAD_genome_ALL=0.2196;gnomAD_genome_AFR=0.3722;gnomAD_genome_AMR=0.3517;gnomAD_genome_ASJ=0.3311;gnomAD_genome_EAS=0.1309;gnomAD_genome_FIN=0.1431;gnomAD_genome_NFE=0.1506;gnomAD_genome_OTH=0.1898;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . 1:14:0,5 . . 1:14:0,5 . 1:24:0,6 1:28:0,9 1:17:0,7 . . . . . . 1:18:0,12 . . 1:29:0,14 . . 1:24:0,5 . . 1:23:0,12 . . . . 1:16:0,5 . 1/1:17:0,17 . . . . . . . 9 71650752 129120;rs2481598 A G 150.83 . #_unique_end_positions=,28;#_unique_start_positions=,27;AC=82;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9433;ALLELEID_clinvar_20171029_hg19=,134566;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9986;AN=82;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;CAF_dbsnp_common_v150_hg19_refseq=,0.01518|0.9848;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374|MedGen:CN230736;CLNDN_clinvar_20171029_hg19=,not_specified|Cardiovascular_phenotype;CLNHGVS_clinvar_20171029_hg19=,NC_000009.11:g.71650752A>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,ARUP_Laboratories|_Molecular_Genetics_and_Genomics:34323;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000144.4:c.54A>G|_NM_001161706.1:c.54A>G|_NM_181425.2:c.54A>G;Coding_region_change_in_longest_transcript=,NM_181425.2:c.54A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,1.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,1.0000;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,19;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,FXN:2395;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:2395;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:2395;Genotype=,G/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:3951;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:3951;Homo_sapiens_refseq_GRCh37.p13_Genes=,FXN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_000144.4|NM_181425.2|NM_001161706.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene19668;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna27661|rna27660|rna27659;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:606829;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:606829;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene19668;QUAL=,156.53559774527022;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,71650752;RS_dbsnp_common_v150_hg19_refseq=,2481598;Read_count=,62;Read_coverage=,62;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_000144.4|NM_181425.2|NM_001161706.1;Reverse_read_coverage=,43;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,1.0000;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.022632|0.977368;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050160000305150136100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.0;db_xref=,GeneID:2395|HGNC:HGNC:3951|MIM:606829;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:06013;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_000144.4|HPRD:06013|Genbank:NM_181425.2|Genbank:NM_001161706.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,frataxin;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,FXN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,FXN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CyaY|FA|FARR|FRDA|X25;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,frataxin|_transcript_variant_1|frataxin|_transcript_variant_2|frataxin|_transcript_variant_3;transcript_id=,NM_000144.4|NM_181425.2|NM_001161706.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FXN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FXN:NM_000144:exon1:c.A54G:p.P18P,FXN:NM_001161706:exon1:c.A54G:p.P18P,FXN:NM_181425:exon1:c.A54G:p.P18P;cytoBand=9q21.11;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.984824;avsnp147=rs2481598;Kaviar_AF=0.273865;Kaviar_AC=42340;Kaviar_AN=154602;ExAC_ALL=0.9993;ExAC_AFR=0.9714;ExAC_AMR=1;ExAC_EAS=1;ExAC_FIN=.;ExAC_NFE=1;ExAC_OTH=1;ExAC_SAS=0.9999;CLNALLELEID=134566;CLNDN=Friedreich_ataxia_1|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1856689,OMIM:229300|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.9979;gnomAD_exome_AFR=0.9399;gnomAD_exome_AMR=0.9972;gnomAD_exome_ASJ=1;gnomAD_exome_EAS=1;gnomAD_exome_FIN=1;gnomAD_exome_NFE=0.9998;gnomAD_exome_OTH=0.9967;gnomAD_exome_SAS=0.9999;gnomAD_genome_ALL=0.9867;gnomAD_genome_AFR=0.9532;gnomAD_genome_AMR=0.9988;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=1;gnomAD_genome_FIN=1;gnomAD_genome_NFE=0.9999;gnomAD_genome_OTH=0.9980;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1/1:44:0,44 1/1:49:0,49 1/1:32:0,32 1/1:53:0,53 1/1:16:0,16 1/1:38:0,38 1/1:18:0,18 1/1:39:0,39 1/1:57:0,57 1/1:27:0,27 1/1:36:0,36 1/1:58:0,58 1/1:48:0,48 1/1:39:0,39 1/1:53:0,53 1/1:59:0,59 1/1:59:0,59 1/1:39:0,39 1/1:46:0,46 1/1:48:0,48 1/1:25:0,25 1/1:35:0,35 1/1:56:0,56 1/1:35:0,35 1/1:31:0,31 1/1:29:0,29 . 1/1:36:0,36 1/1:47:0,47 1/1:71:0,71 1/1:35:0,35 1/1:24:0,24 1/1:53:0,53 1/1:14:0,14 1/1:45:0,45 1/1:59:0,59 1/1:41:0,41 1/1:23:0,23 1/1:27:0,27 1/1:34:0,34 1/1:58:0,58 1/1:20:0,20 9 103348208 226741;rs28623148 A T 200.00 . #_unique_end_positions=,32;#_unique_start_positions=,24;AC=4;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0514;AF_ESP_clinvar_20171029_hg19=,0.0337;AF_EXAC_clinvar_20171029_hg19=,0.06395;AF_TGP_clinvar_20171029_hg19=,0.1178;ALLELEID_clinvar_20171029_hg19=,229638;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0418;AN=4;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.27;CAF_dbsnp_common_v150_hg19_refseq=,0.8822|0.1178;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000009.11:g.103348208A>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001018116.2:c.570A>T;Coding_region_change_in_longest_transcript=,NM_001018116.2:c.570A>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2232;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0258;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,67;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,MURC:347273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:347273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:347273;Genotype=,A/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:33742;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:33742;Homo_sapiens_refseq_GRCh37.p13_Genes=,MURC;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001018116.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene20049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna28169;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene20049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,103348208;RS_dbsnp_common_v150_hg19_refseq=,28623148;Read_count=,34;Read_coverage=,103;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.8663647923407577;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001018116.2;Reverse_read_coverage=,36;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2474;SF=7,8,11,31;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.959132|0.0408682;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05012800030515043e000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:347273|HGNC:HGNC:33742;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:18599;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001018116.2|HPRD:18599;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,muscle_related_coiled-coil_protein;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MURC;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MURC;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,cavin-4|CAVIN4;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,muscle_related_coiled-coil_protein;transcript_id=,NM_001018116.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MURC;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MURC:NM_001018116:exon2:c.A570T:p.S190S;cytoBand=9q31.1;genomicSuperDups=.;esp6500siv2_all=0.0337;esp6500siv2_ea=0.0236;esp6500siv2_all=0.0337;esp6500siv2_ea=0.0236;1000g2015aug_all=0.117812;avsnp147=rs28623148;Kaviar_AF=0.0598957;Kaviar_AC=9260;Kaviar_AN=154602;ExAC_ALL=0.0640;ExAC_AFR=0.0557;ExAC_AMR=0.0340;ExAC_EAS=0.2183;ExAC_FIN=0.0144;ExAC_NFE=0.0238;ExAC_OTH=0.0540;ExAC_SAS=0.1921;CLNALLELEID=229638;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0603;gnomAD_exome_AFR=0.0548;gnomAD_exome_AMR=0.0337;gnomAD_exome_ASJ=0.0228;gnomAD_exome_EAS=0.2143;gnomAD_exome_FIN=0.0110;gnomAD_exome_NFE=0.0238;gnomAD_exome_OTH=0.0403;gnomAD_exome_SAS=0.1886;gnomAD_genome_ALL=0.0401;gnomAD_genome_AFR=0.0522;gnomAD_genome_AMR=0.0406;gnomAD_genome_ASJ=0.0199;gnomAD_genome_EAS=0.2103;gnomAD_genome_FIN=0.0109;gnomAD_genome_NFE=0.0218;gnomAD_genome_OTH=0.0418;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . 1:96:0,33 1:108:0,48 . . 1:78:0,44 . . . . . . . . . . . . . . . . . . . 1:66:0,37 . . . . . . . . . . 9 103348634 226743;rs2780956 G A 185.83 . #_unique_end_positions=,26;#_unique_start_positions=,26;AC=27;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2405;AF_ESP_clinvar_20171029_hg19=,0.3795;AF_EXAC_clinvar_20171029_hg19=,0.37121;AF_TGP_clinvar_20171029_hg19=,0.2933;ALLELEID_clinvar_20171029_hg19=,229643;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4784;AN=27;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.62;CAF_dbsnp_common_v150_hg19_refseq=,0.7067|0.2933;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000009.11:g.103348634G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001018116.2:c.996G>A;Coding_region_change_in_longest_transcript=,NM_001018116.2:c.996G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0804;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4254;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,45;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,MURC:347273;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:347273;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:347273;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:33742;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:33742;Homo_sapiens_refseq_GRCh37.p13_Genes=,MURC;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001018116.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene20049;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna28169;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene20049;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,103348634;RS_dbsnp_common_v150_hg19_refseq=,2780956;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,39;Read_coverage=,75;Read_direction_test_probability=,0.9995736437625923;Read_position_test_probability=,0.9862691322472746;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001018116.2;Reverse_read_coverage=,30;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3170;SF=2,3,4,7,12,13,14,15,16,17,19,22,24,25,26,27,28,30,32,35,37,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.65262|0.34738;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05012800030515053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.433333;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.111111;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0454545;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.233333;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.23;db_xref=,GeneID:347273|HGNC:HGNC:33742;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:18599;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001018116.2|HPRD:18599;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,muscle_related_coiled-coil_protein;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MURC;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MURC;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,cavin-4|CAVIN4;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,muscle_related_coiled-coil_protein;transcript_id=,NM_001018116.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MURC;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MURC:NM_001018116:exon2:c.G996A:p.R332R;cytoBand=9q31.1;genomicSuperDups=.;esp6500siv2_all=0.3795;esp6500siv2_ea=0.4166;esp6500siv2_all=0.3795;esp6500siv2_ea=0.4166;1000g2015aug_all=0.293331;avsnp147=rs2780956;Kaviar_AF=0.370396;Kaviar_AC=57264;Kaviar_AN=154602;ExAC_ALL=0.3712;ExAC_AFR=0.2874;ExAC_AMR=0.5198;ExAC_EAS=0.0835;ExAC_FIN=0.4171;ExAC_NFE=0.4040;ExAC_OTH=0.3576;ExAC_SAS=0.3193;CLNALLELEID=229643;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3799;gnomAD_exome_AFR=0.2784;gnomAD_exome_AMR=0.5175;gnomAD_exome_ASJ=0.4230;gnomAD_exome_EAS=0.0863;gnomAD_exome_FIN=0.4037;gnomAD_exome_NFE=0.4052;gnomAD_exome_OTH=0.3800;gnomAD_exome_SAS=0.3218;gnomAD_genome_ALL=0.3665;gnomAD_genome_AFR=0.2808;gnomAD_genome_AMR=0.4892;gnomAD_genome_ASJ=0.4167;gnomAD_genome_EAS=0.1045;gnomAD_genome_FIN=0.3941;gnomAD_genome_NFE=0.4264;gnomAD_genome_OTH=0.4258;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . 1:65:0,32 1:58:0,27 1:45:0,24 . . 1:65:0,38 . . . . 1:92:0,46 1:74:0,39 1:71:0,36 1:66:0,32 1:67:0,31 1/1:83:0,83 . 1:38:0,18 . . 1:72:0,37 . 1/1:83:0,83 1:43:0,25 1:44:0,20 1:77:0,39 1:73:0,43 . 1:80:0,41 . 1:53:0,26 . . 1/1:75:0,75 . 1/1:62:0,62 . . 1:69:0,35 1:70:0,30 9 108366499 3211;rs34006675 G A 114.26 . #_unique_end_positions=,12;#_unique_start_positions=,12;AC=4;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1263;AF_ESP_clinvar_20171029_hg19=,0.0369;AF_EXAC_clinvar_20171029_hg19=,0.01532;AF_TGP_clinvar_20171029_hg19=,0.0371;ALLELEID_clinvar_20171029_hg19=,18250;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0130;AN=4;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_006722.2:p.Gly125Ser|_NP_001073270.1:p.Gly125Ser|_NP_001185892.1:p.Gly125Ser;Amino_acid_change_in_longest_transcript=,NP_001073270.1:p.Gly125Ser;BaseQRankSum=,-0.5;CAF_dbsnp_common_v150_hg19_refseq=,0.9629|0.03714;CLNDISDB_clinvar_20171029_hg19=,MedGen:C0265221|Orphanet:ORPHA899|SNOMED_CT:111504002|MedGen:C0410174|OMIM:253800|Orphanet:ORPHA272|SNOMED_CT:111502003|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Walker-Warburg_congenital_muscular_dystrophy|Fukuyama_congenital_muscular_dystrophy|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000009.11:g.108366499G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_conflicting_interpretations;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,HGMD:CM080364|OMIM_Allelic_Variant:607440.0012|UniProtKB_(protein):O75072#VAR_033926;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001079802.1:c.373G>A|_NM_001198963.1:c.373G>A|_NM_006731.2:c.373G>A;Coding_region_change_in_longest_transcript=,NM_001079802.1:c.373G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0080;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,20;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,FKTN:2218;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:2218;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:2218;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:3622;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:3622;Homo_sapiens_refseq_GRCh37.p13_Genes=,FKTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_006731.2|NM_001079802.1|NM_001198963.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene20102;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna28227|rna28225|rna28226;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:607440;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:607440;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;OM_dbsnp_common_v150_hg19_refseq=,OM;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene20102;QUAL=,86.46616270903336;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,108366499;RS_dbsnp_common_v150_hg19_refseq=,34006675;Read_count=,13;Read_coverage=,35;Read_direction_test_probability=,0.8865509266783755;Read_position_test_probability=,0.2714896140962886;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_006731.2|NM_001079802.1|NM_001198963.1;Reverse_read_coverage=,15;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0020;SF=11,14,19,22;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.956625|0.0433752;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050168000a0515053e110100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0166667;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0666667;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.999;db_xref=,GeneID:2218|HGNC:HGNC:3622|MIM:607440;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_006731.2|Genbank:NM_001079802.1|Genbank:NM_001198963.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,fukutin;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,FKTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,FKTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1X|FCMD|LGMD2M|MDDGA4|MDDGB4|MDDGC4;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,fukutin|_transcript_variant_2|fukutin|_transcript_variant_1|fukutin|_transcript_variant_3;transcript_id=,NM_006731.2|NM_001079802.1|NM_001198963.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FKTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FKTN:NM_006731:exon5:c.G373A:p.G125S,FKTN:NM_001079802:exon6:c.G373A:p.G125S,FKTN:NM_001198963:exon6:c.G373A:p.G125S;cytoBand=9q31.2;genomicSuperDups=.;esp6500siv2_all=0.0369;esp6500siv2_ea=0.0114;esp6500siv2_all=0.0369;esp6500siv2_ea=0.0114;1000g2015aug_all=0.0371406;avsnp147=rs34006675;Kaviar_AF=0.015569;Kaviar_AC=2407;Kaviar_AN=154602;ExAC_ALL=0.0153;ExAC_AFR=0.0918;ExAC_AMR=0.0087;ExAC_EAS=0;ExAC_FIN=0.0060;ExAC_NFE=0.0106;ExAC_OTH=0.0110;ExAC_SAS=0.0028;CLNALLELEID=18250;CLNDN=Walker-Warburg_congenital_muscular_dystrophy|Fukuyama_congenital_muscular_dystrophy|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C0265221,Orphanet:ORPHA899,SNOMED_CT:111504002|MedGen:C0410174,OMIM:253800,Orphanet:ORPHA272,SNOMED_CT:111502003|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.362;SIFT_pred=T;Polyphen2_HDIV_score=0.944;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.572;Polyphen2_HVAR_pred=P;LRT_score=0.185;LRT_pred=N;MutationTaster_score=0.559;MutationTaster_pred=N;MutationAssessor_score=1.265;MutationAssessor_pred=L;FATHMM_score=-1.45;FATHMM_pred=T;PROVEAN_score=0.11;PROVEAN_pred=N;VEST3_score=0.348;CADD_raw=1.784;CADD_phred=14.89;DANN_score=0.996;fathmm-MKL_coding_score=0.772;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.852;MetaSVM_pred=T;MetaLR_score=0.014;MetaLR_pred=T;integrated_fitCons_score=0.563;integrated_confidence_value=0;GERP++_RS=1.71;phyloP7way_vertebrate=0.069;phyloP20way_mammalian=0.953;phastCons7way_vertebrate=0.956;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=9.405;GDI_full_10282015=.;dpsi_max_tissue=0.0492;dpsi_zscore=0.294;hgmdCODING=HGMD::Walker-Warburg_syndrome#18177472;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM080364#"Walker-Warburg_syndrome";gnomAD_exome_ALL=0.0137;gnomAD_exome_AFR=0.0914;gnomAD_exome_AMR=0.0111;gnomAD_exome_ASJ=0.0062;gnomAD_exome_EAS=5.798e-05;gnomAD_exome_FIN=0.0070;gnomAD_exome_NFE=0.0110;gnomAD_exome_OTH=0.0133;gnomAD_exome_SAS=0.0028;gnomAD_genome_ALL=0.0324;gnomAD_genome_AFR=0.0888;gnomAD_genome_AMR=0.0143;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0100;gnomAD_genome_NFE=0.0108;gnomAD_genome_OTH=0.0164;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . . . 1:33:0,13 . . 1:61:0,17 . . . . 1:47:0,18 . . 1:50:0,27 . . . . . . . . . . . . . . . . . . . 9 108366734 93522;rs34787999 G A 162.71 . #_unique_end_positions=,28;#_unique_start_positions=,28;AC=18;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1339;AF_ESP_clinvar_20171029_hg19=,0.2646;AF_EXAC_clinvar_20171029_hg19=,0.24461;AF_TGP_clinvar_20171029_hg19=,0.1582;ALLELEID_clinvar_20171029_hg19=,99427;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2205;AN=18;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_006722.2:p.Arg203Gln|_NP_001185892.1:p.Arg203Gln|_NP_001073270.1:p.Arg203Gln;Amino_acid_change_in_longest_transcript=,NP_001073270.1:p.Arg203Gln;BaseQRankSum=,-0.19;CAF_dbsnp_common_v150_hg19_refseq=,0.8419|0.1581;CLNDISDB_clinvar_20171029_hg19=,MedGen:C0410174|OMIM:253800|Orphanet:ORPHA272|SNOMED_CT:111502003|MedGen:CN169374|MedGen:CN239222;CLNDN_clinvar_20171029_hg19=,Fukuyama_congenital_muscular_dystrophy|not_specified|Dilated_Cardiomyopathy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000009.11:g.108366734G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:46191|UniProtKB_(protein):O75072#VAR_033927;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001079802.1:c.608G>A|_NM_001198963.1:c.608G>A|_NM_006731.2:c.608G>A;Coding_region_change_in_longest_transcript=,NM_001079802.1:c.608G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0913;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2724;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,35;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,FKTN:2218;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:2218;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:2218;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:3622;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:3622;Homo_sapiens_refseq_GRCh37.p13_Genes=,FKTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_006731.2|NM_001079802.1|NM_001198963.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene20102;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna28227|rna28225|rna28226;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:607440;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:607440;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene20102;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,108366734;RS_dbsnp_common_v150_hg19_refseq=,34787999;Read_count=,40;Read_coverage=,71;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9612791502950904;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_006731.2|NM_001079802.1|NM_001198963.1;Reverse_read_coverage=,36;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0982;SF=0,1,2,4,5,10,15,17,20,24,25,28,29,30,34,35,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.769867|0.230133;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128000a05170536000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.316667;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.133333;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.1;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.108333;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:2218|HGNC:HGNC:3622|MIM:607440;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_006731.2|Genbank:NM_001079802.1|Genbank:NM_001198963.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,fukutin;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,FKTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,FKTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1X|FCMD|LGMD2M|MDDGA4|MDDGB4|MDDGC4;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,fukutin|_transcript_variant_2|fukutin|_transcript_variant_1|fukutin|_transcript_variant_3;transcript_id=,NM_006731.2|NM_001079802.1|NM_001198963.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FKTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FKTN:NM_006731:exon5:c.G608A:p.R203Q,FKTN:NM_001079802:exon6:c.G608A:p.R203Q,FKTN:NM_001198963:exon6:c.G608A:p.R203Q;cytoBand=9q31.2;genomicSuperDups=.;esp6500siv2_all=0.2646;esp6500siv2_ea=0.3190;esp6500siv2_all=0.2646;esp6500siv2_ea=0.3190;1000g2015aug_all=0.158147;avsnp147=rs34787999;Kaviar_AF=0.248975;Kaviar_AC=38492;Kaviar_AN=154602;ExAC_ALL=0.2446;ExAC_AFR=0.1630;ExAC_AMR=0.2684;ExAC_EAS=0.0950;ExAC_FIN=0.2919;ExAC_NFE=0.3053;ExAC_OTH=0.2318;ExAC_SAS=0.0942;CLNALLELEID=99427;CLNDN=Fukuyama_congenital_muscular_dystrophy|Limb-girdle_muscular_dystrophy-dystroglycanopathy,_type_C4|Congenital_muscular_dystrophy-dystroglycanopathy_without_mental_retardation,_type_B4|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Recessive;CLNDISDB=MedGen:C0410174,OMIM:253800,Orphanet:ORPHA272,SNOMED_CT:111502003|MedGen:C1969040,OMIM:611588,Orphanet:ORPHA206554|MedGen:C2751052,OMIM:613152|MedGen:CN169374|MedGen:CN230736|MedGen:CN239222;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.207;SIFT_pred=T;Polyphen2_HDIV_score=0.947;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.197;Polyphen2_HVAR_pred=B;LRT_score=0.003;LRT_pred=N;MutationTaster_score=0.078;MutationTaster_pred=P;MutationAssessor_score=2.075;MutationAssessor_pred=M;FATHMM_score=-1.63;FATHMM_pred=D;PROVEAN_score=-0.18;PROVEAN_pred=N;VEST3_score=0.114;CADD_raw=3.672;CADD_phred=23.3;DANN_score=0.999;fathmm-MKL_coding_score=0.906;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.150;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.638;integrated_confidence_value=0;GERP++_RS=5.36;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.997;phastCons20way_mammalian=0.997;SiPhy_29way_logOdds=11.545;GDI_full_10282015=.;dpsi_max_tissue=-0.0696;dpsi_zscore=-0.346;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2488;gnomAD_exome_AFR=0.1573;gnomAD_exome_AMR=0.2773;gnomAD_exome_ASJ=0.2850;gnomAD_exome_EAS=0.0930;gnomAD_exome_FIN=0.2810;gnomAD_exome_NFE=0.3085;gnomAD_exome_OTH=0.2698;gnomAD_exome_SAS=0.0964;gnomAD_genome_ALL=0.2571;gnomAD_genome_AFR=0.1606;gnomAD_genome_AMR=0.2770;gnomAD_genome_ASJ=0.2752;gnomAD_genome_EAS=0.0958;gnomAD_genome_FIN=0.2776;gnomAD_genome_NFE=0.3229;gnomAD_genome_OTH=0.2811;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 1:63:0,35 1:53:0,19 1:56:0,25 . 1:33:0,8 1:48:0,26 . . . . 1:62:0,41 . . . . 1:51:0,16 . 1:49:0,25 . . 1:71:0,31 . . . 1:68:0,37 1:42:0,20 . . 1:61:0,31 1:58:0,35 1:70:0,34 . . . 1:56:0,26 1:47:0,23 . . . . . 1/1:60:0,60 9 108380355 93510;rs17309806 C A 55.43 . #_unique_end_positions=,7;#_unique_start_positions=,7;AC=18;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2088;AF_ESP_clinvar_20171029_hg19=,0.2909;AF_EXAC_clinvar_20171029_hg19=,0.25185;AF_TGP_clinvar_20171029_hg19=,0.1783;ALLELEID_clinvar_20171029_hg19=,99415;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2248;AN=18;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.8217|0.1783|.;CLNDISDB_clinvar_20171029_hg19=,MedGen:C0410174|OMIM:253800|Orphanet:ORPHA272|SNOMED_CT:111502003|MedGen:CN169374|MedGen:CN239222;CLNDN_clinvar_20171029_hg19=,Fukuyama_congenital_muscular_dystrophy|not_specified|Dilated_Cardiomyopathy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000009.11:g.108380355C>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:46204;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001079802.1:c.1026C>A|_NM_001198963.1:c.1026C>A|_NM_006731.2:c.1026C>A;Coding_region_change_in_longest_transcript=,NM_001079802.1:c.1026C>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0903;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2724;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,10;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,FKTN:2218;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:2218;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:2218;Genotype=,A/C;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:3622;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:3622;Homo_sapiens_refseq_GRCh37.p13_Genes=,FKTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_006731.2|NM_001079802.1|NM_001198963.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene20102;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna28227|rna28225|rna28226;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:607440;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:607440;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene20102;QUAL=,46.14716269343941;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,108380355;RS_dbsnp_common_v150_hg19_refseq=,17309806;Read_count=,9;Read_coverage=,23;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.7142094609835619;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_006731.2|NM_001079802.1|NM_001198963.1;Reverse_read_coverage=,13;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0982;SF=0,1,2,4,5,10,15,17,20,24,25,28,29,30,34,35,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.73367|0.26633|.;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128000305170537000101;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.183673;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.313559;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.097561;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.141176;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.102273;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.133333;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.111111;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.196629;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.24;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.164336;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.261364;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.225;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:2218|HGNC:HGNC:3622|MIM:607440;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_006731.2|Genbank:NM_001079802.1|Genbank:NM_001198963.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,fukutin;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,FKTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,FKTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1X|FCMD|LGMD2M|MDDGA4|MDDGB4|MDDGC4;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,fukutin|_transcript_variant_2|fukutin|_transcript_variant_1|fukutin|_transcript_variant_3;transcript_id=,NM_006731.2|NM_001079802.1|NM_001198963.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FKTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FKTN:NM_006731:exon8:c.C1026A:p.L342L,FKTN:NM_001079802:exon9:c.C1026A:p.L342L,FKTN:NM_001198963:exon9:c.C1026A:p.L342L;cytoBand=9q31.2;genomicSuperDups=.;esp6500siv2_all=0.2909;esp6500siv2_ea=0.3177;esp6500siv2_all=0.2909;esp6500siv2_ea=0.3177;1000g2015aug_all=0.178315;avsnp147=rs17309806;Kaviar_AF=0.0016688;Kaviar_AC=258;Kaviar_AN=154602;ExAC_ALL=0.2518;ExAC_AFR=0.2416;ExAC_AMR=0.2712;ExAC_EAS=0.0937;ExAC_FIN=0.2915;ExAC_NFE=0.3058;ExAC_OTH=0.2340;ExAC_SAS=0.0951;CLNALLELEID=99415;CLNDN=Fukuyama_congenital_muscular_dystrophy|Limb-girdle_muscular_dystrophy-dystroglycanopathy,_type_C4|Congenital_muscular_dystrophy-dystroglycanopathy_without_mental_retardation,_type_B4|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Recessive;CLNDISDB=MedGen:C0410174,OMIM:253800,Orphanet:ORPHA272,SNOMED_CT:111502003|MedGen:C1969040,OMIM:611588,Orphanet:ORPHA206554|MedGen:C2751052,OMIM:613152|MedGen:CN169374|MedGen:CN230736|MedGen:CN239222;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0294;dpsi_zscore=0.193;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2537;gnomAD_exome_AFR=0.2337;gnomAD_exome_AMR=0.2800;gnomAD_exome_ASJ=0.2854;gnomAD_exome_EAS=0.0917;gnomAD_exome_FIN=0.2808;gnomAD_exome_NFE=0.3079;gnomAD_exome_OTH=0.2717;gnomAD_exome_SAS=0.0966;gnomAD_genome_ALL=0.2787;gnomAD_genome_AFR=0.2382;gnomAD_genome_AMR=0.2871;gnomAD_genome_ASJ=0.2748;gnomAD_genome_EAS=0.0953;gnomAD_genome_FIN=0.2765;gnomAD_genome_NFE=0.3218;gnomAD_genome_OTH=0.2848;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 1:19:0,7 1:16:0,7 1:19:0,6 . 1:22:0,10 1:17:0,10 . . . . 1:25:0,13 . . . . 1:11:0,7 . 1:23:0,10 . . 1:25:0,10 . . . 1:18:0,9 1:17:0,5 . . 1:23:0,7 1:11:0,7 1:18:0,6 . . . 1:20:0,8 1:21:0,11 . . . . . 1/1:13:0,13 9 108397495 36138;rs41313301 A G 200.00 . #_unique_end_positions=,23;#_unique_start_positions=,23;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0015;AF_ESP_clinvar_20171029_hg19=,0.0089;AF_EXAC_clinvar_20171029_hg19=,0.01189;AF_TGP_clinvar_20171029_hg19=,0.0052;ALLELEID_clinvar_20171029_hg19=,44802;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0043;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_006722.2:p.Asn446Asp|_NP_001073270.1:p.Asn446Asp;Amino_acid_change_in_longest_transcript=,NP_001073270.1:p.Asn446Asp;BaseQRankSum=,0.24;CAF_dbsnp_common_v150_hg19_refseq=,0.9948|0.005192;CLNDISDB_clinvar_20171029_hg19=,MedGen:C0265221|Orphanet:ORPHA899|SNOMED_CT:111504002|MedGen:C0878544|Orphanet:ORPHA167848|SNOMED_CT:85898001|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Walker-Warburg_congenital_muscular_dystrophy|Cardiomyopathy|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000009.11:g.108397495A>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,UniProtKB_(protein):O75072#VAR_018279;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001079802.1:c.1336A>G|_NM_001198963.1:c.1270+66A>G|_NM_006731.2:c.1336A>G;Coding_region_change_in_longest_transcript=,NM_001079802.1:c.1336A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0080;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,43;GENEINFO_dbsnp_common_v150_hg19_refseq=,FKTN:2218;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:2218;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:2218;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:3622;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:3622;Homo_sapiens_refseq_GRCh37.p13_Genes=,FKTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_006731.2|NM_001079802.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene20102;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna28227|rna28225;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant|SO:0001627|intron_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:607440;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:607440;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene20102;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,108397495;RS_dbsnp_common_v150_hg19_refseq=,41313301;Read_count=,33;Read_coverage=,65;Read_direction_test_probability=,0.9545602858671115;Read_position_test_probability=,0.991989197596233;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_006731.2|NM_001079802.1;Reverse_read_coverage=,22;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0133;SF=18;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.993715|0.00628477;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050168080a05040536100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:2218|HGNC:HGNC:3622|MIM:607440;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_006731.2|Genbank:NM_001079802.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,fukutin;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,FKTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,FKTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1X|FCMD|LGMD2M|MDDGA4|MDDGB4|MDDGC4;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,fukutin|_transcript_variant_2|fukutin|_transcript_variant_1;transcript_id=,NM_006731.2|NM_001079802.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FKTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FKTN:NM_006731:exon10:c.A1336G:p.N446D,FKTN:NM_001079802:exon11:c.A1336G:p.N446D;cytoBand=9q31.2;genomicSuperDups=.;esp6500siv2_all=0.0089;esp6500siv2_ea=0.0124;esp6500siv2_all=0.0089;esp6500siv2_ea=0.0124;1000g2015aug_all=0.00519169;avsnp147=rs41313301;Kaviar_AF=0.0113453;Kaviar_AC=1754;Kaviar_AN=154602;ExAC_ALL=0.0119;ExAC_AFR=0.0016;ExAC_AMR=0.0060;ExAC_EAS=0.0001;ExAC_FIN=0.0091;ExAC_NFE=0.0135;ExAC_OTH=0.0099;ExAC_SAS=0.0233;CLNALLELEID=44802;CLNDN=Cardiomyopathy|Walker-Warburg_congenital_muscular_dystrophy|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C0265221,Orphanet:ORPHA899,SNOMED_CT:111504002|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.012;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.989;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.585;MutationAssessor_pred=M;FATHMM_score=0.87;FATHMM_pred=T;PROVEAN_score=-3.58;PROVEAN_pred=D;VEST3_score=0.16;CADD_raw=4.689;CADD_phred=24.6;DANN_score=0.998;fathmm-MKL_coding_score=0.988;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.502;MetaSVM_pred=T;MetaLR_score=0.229;MetaLR_pred=T;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=6.04;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.199;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=15.770;GDI_full_10282015=.;dpsi_max_tissue=-0.5844;dpsi_zscore=-1.172;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0114;gnomAD_exome_AFR=0.0015;gnomAD_exome_AMR=0.0065;gnomAD_exome_ASJ=0.0184;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0.0090;gnomAD_exome_NFE=0.0127;gnomAD_exome_OTH=0.0104;gnomAD_exome_SAS=0.0233;gnomAD_genome_ALL=0.0077;gnomAD_genome_AFR=0.0018;gnomAD_genome_AMR=0.0072;gnomAD_genome_ASJ=0.0099;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0083;gnomAD_genome_NFE=0.0118;gnomAD_genome_OTH=0.0082;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . 1:57:0,30 . . . . . . . . . . . . . . . . . . . . . . . 9 108397495 36138;rs41313301 A G 200.00 . #_unique_end_positions=,23;#_unique_start_positions=,23;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0015;AF_ESP_clinvar_20171029_hg19=,0.0089;AF_EXAC_clinvar_20171029_hg19=,0.01189;AF_TGP_clinvar_20171029_hg19=,0.0052;ALLELEID_clinvar_20171029_hg19=,44802;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0043;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_006722.2:p.Asn446Asp|_NP_001073270.1:p.Asn446Asp;Amino_acid_change_in_longest_transcript=,NP_001073270.1:p.Asn446Asp;BaseQRankSum=,0.24;CAF_dbsnp_common_v150_hg19_refseq=,0.9948|0.005192;CLNDISDB_clinvar_20171029_hg19=,MedGen:C0265221|Orphanet:ORPHA899|SNOMED_CT:111504002|MedGen:C0878544|Orphanet:ORPHA167848|SNOMED_CT:85898001|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Walker-Warburg_congenital_muscular_dystrophy|Cardiomyopathy|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000009.11:g.108397495A>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,UniProtKB_(protein):O75072#VAR_018279;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001079802.1:c.1336A>G|_NM_001198963.1:c.1270+66A>G|_NM_006731.2:c.1336A>G;Coding_region_change_in_longest_transcript=,NM_001079802.1:c.1336A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0080;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,43;GENEINFO_dbsnp_common_v150_hg19_refseq=,FKTN:2218;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:2218;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:2218;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:3622;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:3622;Homo_sapiens_refseq_GRCh37.p13_Genes=,FKTN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_006731.2|NM_001079802.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene20102;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna28227|rna28225;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant|SO:0001627|intron_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:607440;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:607440;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene20102;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,108397495;RS_dbsnp_common_v150_hg19_refseq=,41313301;Read_count=,33;Read_coverage=,65;Read_direction_test_probability=,0.9545602858671115;Read_position_test_probability=,0.991989197596233;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_006731.2|NM_001079802.1;Reverse_read_coverage=,22;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0133;SF=18;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.993715|0.00628477;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050168080a05040536100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:2218|HGNC:HGNC:3622|MIM:607440;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_006731.2|Genbank:NM_001079802.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,fukutin;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,FKTN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,FKTN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1X|FCMD|LGMD2M|MDDGA4|MDDGB4|MDDGC4;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,fukutin|_transcript_variant_2|fukutin|_transcript_variant_1;transcript_id=,NM_006731.2|NM_001079802.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FKTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FKTN:NM_006731:exon10:c.A1336G:p.N446D,FKTN:NM_001079802:exon11:c.A1336G:p.N446D;cytoBand=9q31.2;genomicSuperDups=.;esp6500siv2_all=0.0089;esp6500siv2_ea=0.0124;esp6500siv2_all=0.0089;esp6500siv2_ea=0.0124;1000g2015aug_all=0.00519169;avsnp147=rs41313301;Kaviar_AF=0.0113453;Kaviar_AC=1754;Kaviar_AN=154602;ExAC_ALL=0.0119;ExAC_AFR=0.0016;ExAC_AMR=0.0060;ExAC_EAS=0.0001;ExAC_FIN=0.0091;ExAC_NFE=0.0135;ExAC_OTH=0.0099;ExAC_SAS=0.0233;CLNALLELEID=44802;CLNDN=Cardiomyopathy|Walker-Warburg_congenital_muscular_dystrophy|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C0265221,Orphanet:ORPHA899,SNOMED_CT:111504002|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.012;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.989;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.585;MutationAssessor_pred=M;FATHMM_score=0.87;FATHMM_pred=T;PROVEAN_score=-3.58;PROVEAN_pred=D;VEST3_score=0.16;CADD_raw=4.689;CADD_phred=24.6;DANN_score=0.998;fathmm-MKL_coding_score=0.988;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.502;MetaSVM_pred=T;MetaLR_score=0.229;MetaLR_pred=T;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=6.04;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.199;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=15.770;GDI_full_10282015=.;dpsi_max_tissue=-0.5844;dpsi_zscore=-1.172;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0114;gnomAD_exome_AFR=0.0015;gnomAD_exome_AMR=0.0065;gnomAD_exome_ASJ=0.0184;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0.0090;gnomAD_exome_NFE=0.0127;gnomAD_exome_OTH=0.0104;gnomAD_exome_SAS=0.0233;gnomAD_genome_ALL=0.0077;gnomAD_genome_AFR=0.0018;gnomAD_genome_AMR=0.0072;gnomAD_genome_ASJ=0.0099;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0083;gnomAD_genome_NFE=0.0118;gnomAD_genome_OTH=0.0082;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . 1:57:0,30 . . . . . . . . . . . . . . . . . . . . . . . 10 18789825 . A C 116.06 . #_unique_end_positions=,13;#_unique_start_positions=,10;AC=1;AN=1;Amino_acid_change=,NP_963866.2:p.Asn153His|_NP_963865.2:p.Asn153His|_NP_001161417.1:p.Asn153His|_NP_001316989.1:p.Asn126His|_NP_000715.2:p.Asn126His|_NP_963887.2:p.Asn181His|_NP_963864.1:p.Asn133His|_NP_963891.1:p.Asn181His|_NP_963890.2:p.Asn181His|_NP_963884.2:p.Asn127His;Amino_acid_change_in_longest_transcript=,NP_000715.2:p.Asn126His;BaseQRankSum=,0.0;Coding_region_change=,NM_000724.3:c.376A>C|_NM_001167945.1:c.457A>C|_NM_001330060.1:c.376A>C|_NM_201570.2:c.397A>C|_NM_201571.3:c.457A>C|_NM_201572.3:c.457A>C|_NM_201590.2:c.379A>C|_NM_201593.2:c.541A>C|_NM_201596.2:c.541A>C|_NM_201597.2:c.541A>C;Coding_region_change_in_longest_transcript=,NM_000724.3:c.376A>C;Forward_read_coverage=,16;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:783;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:783;Genotype=,A/C;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:1402;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:1402;Homo_sapiens_refseq_GRCh37.p13_Genes=,CACNB2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_201596.2|NM_201593.2|NM_201597.2|NM_201571.3|NM_001167945.1|NM_201572.3|NM_001330060.1|NM_000724.3|NM_201590.2|NM_201570.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene20886;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna29719|rna29720|rna29721|rna29722|rna29723|rna29724|rna29725|rna29726|rna29727|rna29728;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:600003;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:600003;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene20886;QUAL=,116.0616807232658;Read_count=,15;Read_coverage=,36;Read_direction_test_probability=,0.9575165156378157;Read_position_test_probability=,0.2936385312926959;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_201596.2|NM_201593.2|NM_201597.2|NM_201571.3|NM_001167945.1|NM_201572.3|NM_001330060.1|NM_000724.3|NM_201590.2|NM_201570.2;Reverse_read_coverage=,20;SF=25;conservation_score=,0.997;db_xref=,GeneID:783|HGNC:HGNC:1402|MIM:600003;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_201596.2|Genbank:NM_201593.2|Genbank:NM_201597.2|Genbank:NM_201571.3|Genbank:NM_001167945.1|Genbank:NM_201572.3|Genbank:NM_001330060.1|Genbank:NM_000724.3|Genbank:NM_201590.2|Genbank:NM_201570.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,calcium_voltage-gated_channel_auxiliary_subunit_beta_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CACNB2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,CACNB2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CACNLB2|CAVB2|MYSB;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,calcium_voltage-gated_channel_auxiliary_subunit_beta_2|_transcript_variant_2|calcium_voltage-gated_channel_auxiliary_subunit_beta_2|_transcript_variant_5|calcium_voltage-gated_channel_auxiliary_subunit_beta_2|_transcript_variant_4|calcium_voltage-gated_channel_auxiliary_subunit_beta_2|_transcript_variant_6|calcium_voltage-gated_channel_auxiliary_subunit_beta_2|_transcript_variant_9|calcium_voltage-gated_channel_auxiliary_subunit_beta_2|_transcript_variant_8|calcium_voltage-gated_channel_auxiliary_subunit_beta_2|_transcript_variant_10|calcium_voltage-gated_channel_auxiliary_subunit_beta_2|_transcript_variant_1|calcium_voltage-gated_channel_auxiliary_subunit_beta_2|_transcript_variant_3|calcium_voltage-gated_channel_auxiliary_subunit_beta_2|_transcript_variant_7;transcript_id=,NM_201596.2|NM_201593.2|NM_201597.2|NM_201571.3|NM_001167945.1|NM_201572.3|NM_001330060.1|NM_000724.3|NM_201590.2|NM_201570.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CACNB2:NM_000724:exon4:c.A376C:p.N126H,CACNB2:NM_201570:exon4:c.A397C:p.N133H,CACNB2:NM_201590:exon4:c.A379C:p.N127H,CACNB2:NM_001167945:exon5:c.A457C:p.N153H,CACNB2:NM_201571:exon5:c.A457C:p.N153H,CACNB2:NM_201572:exon5:c.A457C:p.N153H,CACNB2:NM_201593:exon5:c.A541C:p.N181H,CACNB2:NM_201596:exon5:c.A541C:p.N181H,CACNB2:NM_201597:exon5:c.A541C:p.N181H;cytoBand=10p12.31;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.072;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.988;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=1.335;MutationAssessor_pred=L;FATHMM_score=-1.62;FATHMM_pred=D;PROVEAN_score=-2.97;PROVEAN_pred=D;VEST3_score=0.361;CADD_raw=3.614;CADD_phred=23.2;DANN_score=0.984;fathmm-MKL_coding_score=0.959;fathmm-MKL_coding_pred=D;MetaSVM_score=0.260;MetaSVM_pred=D;MetaLR_score=0.630;MetaLR_pred=D;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=5.88;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.199;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=0.998;SiPhy_29way_logOdds=16.279;GDI_full_10282015=.;dpsi_max_tissue=-0.0426;dpsi_zscore=-0.231;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=7 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . 1:31:0,15 . . . . . . . . . . . . . . . . 10 18828371 263261;rs2228645 C T 200.00 . #_unique_end_positions=,35;#_unique_start_positions=,33;AC=15;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1899;AF_ESP_clinvar_20171029_hg19=,0.1775;AF_EXAC_clinvar_20171029_hg19=,0.21286;AF_TGP_clinvar_20171029_hg19=,0.2372;ALLELEID_clinvar_20171029_hg19=,253717;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3314;AN=15;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.03;CAF_dbsnp_common_v150_hg19_refseq=,0.7628|.|0.2372;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1142166|Orphanet:ORPHA130|SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736;CLNDN_clinvar_20171029_hg19=,Brugada_syndrome|not_specified|Cardiovascular_phenotype;CLNHGVS_clinvar_20171029_hg19=,NC_000010.10:g.18828371C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:48193;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000724.3:c.1536C>T|_NM_001167945.1:c.1503C>T|_NM_001330060.1:c.1422C>T|_NM_201570.2:c.1557C>T|_NM_201571.3:c.1617C>T|_NM_201572.3:c.1545C>T|_NM_201590.2:c.1539C>T|_NM_201593.2:c.1587C>T|_NM_201596.2:c.1701C>T|_NM_201597.2:c.1629C>T;Coding_region_change_in_longest_transcript=,NM_000724.3:c.1536C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2381;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1610;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,49;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,CACNB2:783;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:783;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:783;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:1402;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:1402;Homo_sapiens_refseq_GRCh37.p13_Genes=,CACNB2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_201596.2|NM_201593.2|NM_201597.2|NM_201571.3|NM_001167945.1|NM_201572.3|NM_001330060.1|NM_000724.3|NM_201590.2|NM_201570.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene20886;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna29719|rna29720|rna29721|rna29722|rna29723|rna29724|rna29725|rna29726|rna29727|rna29728;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:600003;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:600003;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene20886;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,18828371;RS_dbsnp_common_v150_hg19_refseq=,2228645;Read_count=,55;Read_coverage=,118;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.6498230902319044;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_201596.2|NM_201593.2|NM_201597.2|NM_201571.3|NM_001167945.1|NM_201572.3|NM_001330060.1|NM_000724.3|NM_201590.2|NM_201570.2;Reverse_read_coverage=,69;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3119;SF=0,3,4,6,12,18,21,22,25,29,30,35,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.808847|.|0.191153;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05012800030515053f000101;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.173469;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.159292;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.268293;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.214286;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.215909;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.232558;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.319767;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.116667;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.38;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.132867;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.125;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.207965;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.043;db_xref=,GeneID:783|HGNC:HGNC:1402|MIM:600003;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_201596.2|Genbank:NM_201593.2|Genbank:NM_201597.2|Genbank:NM_201571.3|Genbank:NM_001167945.1|Genbank:NM_201572.3|Genbank:NM_001330060.1|Genbank:NM_000724.3|Genbank:NM_201590.2|Genbank:NM_201570.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,calcium_voltage-gated_channel_auxiliary_subunit_beta_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CACNB2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,CACNB2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CACNLB2|CAVB2|MYSB;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,calcium_voltage-gated_channel_auxiliary_subunit_beta_2|_transcript_variant_2|calcium_voltage-gated_channel_auxiliary_subunit_beta_2|_transcript_variant_5|calcium_voltage-gated_channel_auxiliary_subunit_beta_2|_transcript_variant_4|calcium_voltage-gated_channel_auxiliary_subunit_beta_2|_transcript_variant_6|calcium_voltage-gated_channel_auxiliary_subunit_beta_2|_transcript_variant_9|calcium_voltage-gated_channel_auxiliary_subunit_beta_2|_transcript_variant_8|calcium_voltage-gated_channel_auxiliary_subunit_beta_2|_transcript_variant_10|calcium_voltage-gated_channel_auxiliary_subunit_beta_2|_transcript_variant_1|calcium_voltage-gated_channel_auxiliary_subunit_beta_2|_transcript_variant_3|calcium_voltage-gated_channel_auxiliary_subunit_beta_2|_transcript_variant_7;transcript_id=,NM_201596.2|NM_201593.2|NM_201597.2|NM_201571.3|NM_001167945.1|NM_201572.3|NM_001330060.1|NM_000724.3|NM_201590.2|NM_201570.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CACNB2:NM_000724:exon13:c.C1536T:p.Y512Y,CACNB2:NM_201570:exon13:c.C1557T:p.Y519Y,CACNB2:NM_201590:exon13:c.C1539T:p.Y513Y,CACNB2:NM_001167945:exon14:c.C1503T:p.Y501Y,CACNB2:NM_201571:exon14:c.C1617T:p.Y539Y,CACNB2:NM_201572:exon14:c.C1545T:p.Y515Y,CACNB2:NM_201593:exon14:c.C1587T:p.Y529Y,CACNB2:NM_201596:exon14:c.C1701T:p.Y567Y,CACNB2:NM_201597:exon14:c.C1629T:p.Y543Y;cytoBand=10p12.31;genomicSuperDups=.;esp6500siv2_all=0.1775;esp6500siv2_ea=0.1615;esp6500siv2_all=0.1775;esp6500siv2_ea=0.1615;1000g2015aug_all=0.23722;avsnp147=rs2228645;Kaviar_AF=0.207184;Kaviar_AC=32031;Kaviar_AN=154602;ExAC_ALL=0.2129;ExAC_AFR=0.1977;ExAC_AMR=0.4110;ExAC_EAS=0.2378;ExAC_FIN=0.1931;ExAC_NFE=0.1593;ExAC_OTH=0.2185;ExAC_SAS=0.2946;CLNALLELEID=253717;CLNDN=Brugada_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2196;gnomAD_exome_AFR=0.1953;gnomAD_exome_AMR=0.3883;gnomAD_exome_ASJ=0.1623;gnomAD_exome_EAS=0.2304;gnomAD_exome_FIN=0.1985;gnomAD_exome_NFE=0.1600;gnomAD_exome_OTH=0.2022;gnomAD_exome_SAS=0.2945;gnomAD_genome_ALL=0.1901;gnomAD_genome_AFR=0.1985;gnomAD_genome_AMR=0.3206;gnomAD_genome_ASJ=0.1589;gnomAD_genome_EAS=0.2151;gnomAD_genome_FIN=0.1769;gnomAD_genome_NFE=0.1784;gnomAD_genome_OTH=0.1975;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:102:0,46 . . 1:118:0,68 1:114:0,59 . 1:106:0,56 . . . . . 1:132:0,66 . . . . . 1:104:0,50 . . 1/1:186:0,186 1:159:0,75 . . 1:115:0,55 . . . 1:148:0,62 1:139:0,76 . . . . 1:139:0,70 . . . . 1:131:0,51 1:109:0,56 10 18828486 191569;rs61733968 C G 200.00 . #_unique_end_positions=,51;#_unique_start_positions=,54;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0008;AF_ESP_clinvar_20171029_hg19=,0.0126;AF_EXAC_clinvar_20171029_hg19=,0.00919;AF_TGP_clinvar_20171029_hg19=,0.0044;ALLELEID_clinvar_20171029_hg19=,189319;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0101;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_000715.2:p.Arg551Gly|_NP_963887.2:p.Arg568Gly|_NP_963891.1:p.Arg582Gly|_NP_963866.2:p.Arg554Gly|_NP_963890.2:p.Arg606Gly|_NP_963865.2:p.Arg578Gly|_NP_963864.1:p.Arg558Gly|_NP_001316989.1:p.Arg513Gly|_NP_001161417.1:p.Arg540Gly|_NP_963884.2:p.Arg552Gly;Amino_acid_change_in_longest_transcript=,NP_000715.2:p.Arg551Gly;BaseQRankSum=,0.12;CAF_dbsnp_common_v150_hg19_refseq=,0.9956|0.004393|.;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1142166|Orphanet:ORPHA130|SNOMED_CT:418818005|MedGen:C2678477|OMIM:611876|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Brugada_syndrome|Brugada_syndrome_4|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000010.10:g.18828486C>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_conflicting_interpretations;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:67361;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000724.3:c.1651C>G|_NM_001167945.1:c.1618C>G|_NM_001330060.1:c.1537C>G|_NM_201570.2:c.1672C>G|_NM_201571.3:c.1732C>G|_NM_201572.3:c.1660C>G|_NM_201590.2:c.1654C>G|_NM_201593.2:c.1702C>G|_NM_201596.2:c.1816C>G|_NM_201597.2:c.1744C>G;Coding_region_change_in_longest_transcript=,NM_000724.3:c.1651C>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0139;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,86;GENEINFO_dbsnp_common_v150_hg19_refseq=,CACNB2:783;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:783;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:783;Genotype=,C/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:1402;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:1402;Homo_sapiens_refseq_GRCh37.p13_Genes=,CACNB2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_201596.2|NM_201593.2|NM_201597.2|NM_201571.3|NM_001167945.1|NM_201572.3|NM_001330060.1|NM_000724.3|NM_201590.2|NM_201570.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene20886;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna29719|rna29720|rna29721|rna29722|rna29723|rna29724|rna29725|rna29726|rna29727|rna29728;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:600003;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:600003;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene20886;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,18828486;RS_dbsnp_common_v150_hg19_refseq=,61733968;Read_count=,71;Read_coverage=,166;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.8273184144808532;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_201596.2|NM_201593.2|NM_201597.2|NM_201571.3|NM_001167945.1|NM_201572.3|NM_001330060.1|NM_000724.3|NM_201590.2|NM_201570.2;Reverse_read_coverage=,80;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=30;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.989457|0.0104746|6.8686e-005;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128000a05040136000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.973;db_xref=,GeneID:783|HGNC:HGNC:1402|MIM:600003;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_201596.2|Genbank:NM_201593.2|Genbank:NM_201597.2|Genbank:NM_201571.3|Genbank:NM_001167945.1|Genbank:NM_201572.3|Genbank:NM_001330060.1|Genbank:NM_000724.3|Genbank:NM_201590.2|Genbank:NM_201570.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,calcium_voltage-gated_channel_auxiliary_subunit_beta_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CACNB2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,CACNB2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CACNLB2|CAVB2|MYSB;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,calcium_voltage-gated_channel_auxiliary_subunit_beta_2|_transcript_variant_2|calcium_voltage-gated_channel_auxiliary_subunit_beta_2|_transcript_variant_5|calcium_voltage-gated_channel_auxiliary_subunit_beta_2|_transcript_variant_4|calcium_voltage-gated_channel_auxiliary_subunit_beta_2|_transcript_variant_6|calcium_voltage-gated_channel_auxiliary_subunit_beta_2|_transcript_variant_9|calcium_voltage-gated_channel_auxiliary_subunit_beta_2|_transcript_variant_8|calcium_voltage-gated_channel_auxiliary_subunit_beta_2|_transcript_variant_10|calcium_voltage-gated_channel_auxiliary_subunit_beta_2|_transcript_variant_1|calcium_voltage-gated_channel_auxiliary_subunit_beta_2|_transcript_variant_3|calcium_voltage-gated_channel_auxiliary_subunit_beta_2|_transcript_variant_7;transcript_id=,NM_201596.2|NM_201593.2|NM_201597.2|NM_201571.3|NM_001167945.1|NM_201572.3|NM_001330060.1|NM_000724.3|NM_201590.2|NM_201570.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CACNB2:NM_000724:exon13:c.C1651G:p.R551G,CACNB2:NM_201570:exon13:c.C1672G:p.R558G,CACNB2:NM_201590:exon13:c.C1654G:p.R552G,CACNB2:NM_001167945:exon14:c.C1618G:p.R540G,CACNB2:NM_201571:exon14:c.C1732G:p.R578G,CACNB2:NM_201572:exon14:c.C1660G:p.R554G,CACNB2:NM_201593:exon14:c.C1702G:p.R568G,CACNB2:NM_201596:exon14:c.C1816G:p.R606G,CACNB2:NM_201597:exon14:c.C1744G:p.R582G;cytoBand=10p12.31;genomicSuperDups=.;esp6500siv2_all=0.0126;esp6500siv2_ea=0.0170;esp6500siv2_all=0.0126;esp6500siv2_ea=0.0170;1000g2015aug_all=0.00439297;avsnp147=rs61733968;Kaviar_AF=0.0099028;Kaviar_AC=1531;Kaviar_AN=154602;ExAC_ALL=0.0092;ExAC_AFR=0.0032;ExAC_AMR=0.0041;ExAC_EAS=0;ExAC_FIN=0.0047;ExAC_NFE=0.0145;ExAC_OTH=0.0044;ExAC_SAS=0.0018;CLNALLELEID=189319;CLNDN=Brugada_syndrome|Brugada_syndrome_4|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C2678477,OMIM:611876|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.004;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.963;Polyphen2_HVAR_pred=D;LRT_score=0.001;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=1.65;MutationAssessor_pred=L;FATHMM_score=1.97;FATHMM_pred=T;PROVEAN_score=-0.86;PROVEAN_pred=N;VEST3_score=0.433;CADD_raw=4.555;CADD_phred=24.4;DANN_score=0.999;fathmm-MKL_coding_score=0.985;fathmm-MKL_coding_pred=D;MetaSVM_score=0.105;MetaSVM_pred=D;MetaLR_score=0.473;MetaLR_pred=T;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=5.91;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.994;phastCons20way_mammalian=0.978;SiPhy_29way_logOdds=15.647;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0091;gnomAD_exome_AFR=0.0024;gnomAD_exome_AMR=0.0052;gnomAD_exome_ASJ=0.0026;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0047;gnomAD_exome_NFE=0.0160;gnomAD_exome_OTH=0.0104;gnomAD_exome_SAS=0.0019;gnomAD_genome_ALL=0.0099;gnomAD_genome_AFR=0.0032;gnomAD_genome_AMR=0.0036;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0054;gnomAD_genome_NFE=0.0161;gnomAD_genome_OTH=0.0133;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:156:0,70 . . . . . . . . . . . 10 18828635 136649;rs58225473 T G 130.49 . #_unique_end_positions=,26;#_unique_start_positions=,24;AC=23;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0953;AF_ESP_clinvar_20171029_hg19=,0.1516;AF_EXAC_clinvar_20171029_hg19=,0.13817;AF_TGP_clinvar_20171029_hg19=,0.0970;ALLELEID_clinvar_20171029_hg19=,140352;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1138;AN=23;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_963864.1:p.Asp607Glu|_NP_000715.2:p.Asp600Glu|_NP_963887.2:p.Asp617Glu|_NP_963866.2:p.Asp603Glu|_NP_963891.1:p.Asp631Glu|_NP_963865.2:p.Asp627Glu|_NP_963890.2:p.Asp655Glu|_NP_001161417.1:p.Asp589Glu|_NP_001316989.1:p.Asp562Glu|_NP_963884.2:p.Asp601Glu;Amino_acid_change_in_longest_transcript=,NP_000715.2:p.Asp600Glu;BaseQRankSum=,0.22;CAF_dbsnp_common_v150_hg19_refseq=,0.903|.|0.09704;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1142166|Orphanet:ORPHA130|SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736;CLNDN_clinvar_20171029_hg19=,Brugada_syndrome|not_specified|Cardiovascular_phenotype;CLNHGVS_clinvar_20171029_hg19=,NC_000010.10:g.18828635T>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:4644;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000724.3:c.1800T>G|_NM_001167945.1:c.1767T>G|_NM_001330060.1:c.1686T>G|_NM_201570.2:c.1821T>G|_NM_201571.3:c.1881T>G|_NM_201572.3:c.1809T>G|_NM_201590.2:c.1803T>G|_NM_201593.2:c.1851T>G|_NM_201596.2:c.1965T>G|_NM_201597.2:c.1893T>G;Coding_region_change_in_longest_transcript=,NM_000724.3:c.1800T>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1978;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,21;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,CACNB2:783;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:783;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:783;Genotype=,G/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:1402;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:1402;Homo_sapiens_refseq_GRCh37.p13_Genes=,CACNB2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_201596.2|NM_201593.2|NM_201597.2|NM_201571.3|NM_001167945.1|NM_201572.3|NM_001330060.1|NM_000724.3|NM_201590.2|NM_201570.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene20886;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna29719|rna29720|rna29721|rna29722|rna29723|rna29724|rna29725|rna29726|rna29727|rna29728;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:600003;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:600003;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene20886;QUAL=,128.0815163490523;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,18828635;RS_dbsnp_common_v150_hg19_refseq=,58225473;Read_count=,33;Read_coverage=,33;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_201596.2|NM_201593.2|NM_201597.2|NM_201571.3|NM_001167945.1|NM_201572.3|NM_001330060.1|NM_000724.3|NM_201590.2|NM_201570.2;Reverse_read_coverage=,12;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0838;SF=1,8,10,14,15,20,23,24,26,28,29,32,34,35,36,37,38;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.857545|.|0.142455;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050168000a05150536100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:783|HGNC:HGNC:1402|MIM:600003;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_201596.2|Genbank:NM_201593.2|Genbank:NM_201597.2|Genbank:NM_201571.3|Genbank:NM_001167945.1|Genbank:NM_201572.3|Genbank:NM_001330060.1|Genbank:NM_000724.3|Genbank:NM_201590.2|Genbank:NM_201570.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,calcium_voltage-gated_channel_auxiliary_subunit_beta_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CACNB2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,CACNB2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CACNLB2|CAVB2|MYSB;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,calcium_voltage-gated_channel_auxiliary_subunit_beta_2|_transcript_variant_2|calcium_voltage-gated_channel_auxiliary_subunit_beta_2|_transcript_variant_5|calcium_voltage-gated_channel_auxiliary_subunit_beta_2|_transcript_variant_4|calcium_voltage-gated_channel_auxiliary_subunit_beta_2|_transcript_variant_6|calcium_voltage-gated_channel_auxiliary_subunit_beta_2|_transcript_variant_9|calcium_voltage-gated_channel_auxiliary_subunit_beta_2|_transcript_variant_8|calcium_voltage-gated_channel_auxiliary_subunit_beta_2|_transcript_variant_10|calcium_voltage-gated_channel_auxiliary_subunit_beta_2|_transcript_variant_1|calcium_voltage-gated_channel_auxiliary_subunit_beta_2|_transcript_variant_3|calcium_voltage-gated_channel_auxiliary_subunit_beta_2|_transcript_variant_7;transcript_id=,NM_201596.2|NM_201593.2|NM_201597.2|NM_201571.3|NM_001167945.1|NM_201572.3|NM_001330060.1|NM_000724.3|NM_201590.2|NM_201570.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CACNB2:NM_000724:exon13:c.T1800G:p.D600E,CACNB2:NM_201570:exon13:c.T1821G:p.D607E,CACNB2:NM_201590:exon13:c.T1803G:p.D601E,CACNB2:NM_001167945:exon14:c.T1767G:p.D589E,CACNB2:NM_201571:exon14:c.T1881G:p.D627E,CACNB2:NM_201572:exon14:c.T1809G:p.D603E,CACNB2:NM_201593:exon14:c.T1851G:p.D617E,CACNB2:NM_201596:exon14:c.T1965G:p.D655E,CACNB2:NM_201597:exon14:c.T1893G:p.D631E;cytoBand=10p12.31;genomicSuperDups=.;esp6500siv2_all=0.1516;esp6500siv2_ea=0.1729;esp6500siv2_all=0.1516;esp6500siv2_ea=0.1729;1000g2015aug_all=0.0970447;avsnp147=rs58225473;Kaviar_AF=0.136467;Kaviar_AC=21098;Kaviar_AN=154602;ExAC_ALL=0.1382;ExAC_AFR=0.1078;ExAC_AMR=0.0738;ExAC_EAS=0.0007;ExAC_FIN=0.1935;ExAC_NFE=0.1826;ExAC_OTH=0.1532;ExAC_SAS=0.0732;CLNALLELEID=140352;CLNDN=Brugada_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.037;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.996;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=N;MutationTaster_score=0.001;MutationTaster_pred=P;MutationAssessor_score=1.65;MutationAssessor_pred=L;FATHMM_score=-1.82;FATHMM_pred=D;PROVEAN_score=-0.68;PROVEAN_pred=N;VEST3_score=0.192;CADD_raw=2.791;CADD_phred=21.3;DANN_score=0.992;fathmm-MKL_coding_score=0.937;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.989;MetaSVM_pred=T;MetaLR_score=0.002;MetaLR_pred=T;integrated_fitCons_score=0.651;integrated_confidence_value=0;GERP++_RS=2.76;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=1.061;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=12.057;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM103389#"Altered_function";gnomAD_exome_ALL=0.1367;gnomAD_exome_AFR=0.1060;gnomAD_exome_AMR=0.0844;gnomAD_exome_ASJ=0.1509;gnomAD_exome_EAS=0.0006;gnomAD_exome_FIN=0.1944;gnomAD_exome_NFE=0.1809;gnomAD_exome_OTH=0.1513;gnomAD_exome_SAS=0.0744;gnomAD_genome_ALL=0.1480;gnomAD_genome_AFR=0.1071;gnomAD_genome_AMR=0.1183;gnomAD_genome_ASJ=0.1433;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.2027;gnomAD_genome_NFE=0.1766;gnomAD_genome_OTH=0.1645;Whole_Blood=Whole_Blood::0.177374::-0.195853;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . 1/1:33:0,33 . . . . . . 1:45:0,19 . 1/1:43:0,43 . . . 1:55:0,27 1:36:0,19 . . . . 1/1:44:0,44 . . 1:47:0,20 1:31:0,15 . 1/1:32:0,32 . 1:44:0,21 1:42:0,21 . . 1/1:32:0,32 . 1/1:26:0,26 1:47:0,19 1:40:0,16 1:25:0,8 1:18:0,6 . . . 10 21074724 45497;rs2296614 T C 200.00 . #_unique_end_positions=,37;#_unique_start_positions=,31;AC=6;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1210;AF_ESP_clinvar_20171029_hg19=,0.0930;AF_EXAC_clinvar_20171029_hg19=,0.07791;AF_TGP_clinvar_20171029_hg19=,0.0667;ALLELEID_clinvar_20171029_hg19=,54663;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1052;AN=6;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.9333|0.06669;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000010.10:g.21074724T>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001173484.1:c.*88A>G|_NM_006393.2:c.2997A>G|_NM_213569.2:c.765A>G;Coding_region_change_in_longest_transcript=,NM_006393.2:c.2997A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0527;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,40;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,NEBL:10529;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:10529;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:10529;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:16932;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:16932;Homo_sapiens_refseq_GRCh37.p13_Genes=,NEBL;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_006393.2|NM_001173484.1|NM_213569.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene20901;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna29739|rna29737|rna29738;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001624|3_prime_UTR_variant|SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:605491;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:605491;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene20901;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,21074724;RS_dbsnp_common_v150_hg19_refseq=,2296614;Read_count=,52;Read_coverage=,113;Read_direction_test_probability=,0.9338172946307324;Read_position_test_probability=,0.866875607085767;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_006393.2|NM_001173484.1|NM_213569.2;Reverse_read_coverage=,73;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0491;SF=0,3,22,24,25,37;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.906072|0.0939282;U3_dbsnp_common_v150_hg19_refseq=,U3;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05032880030515053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.173469;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0707965;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.00595238;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.0227273;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.0561798;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.15;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.0950704;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.0568182;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.115044;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.228;db_xref=,GeneID:10529|HGNC:HGNC:16932|MIM:605491;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:10403;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_006393.2|HPRD:10403|Genbank:NM_001173484.1|Genbank:NM_213569.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,nebulette;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,NEBL;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NEBL;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LASP2|LNEBL;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,nebulette|_transcript_variant_1|nebulette|_transcript_variant_3|nebulette|_transcript_variant_2;transcript_id=,NM_006393.2|NM_001173484.1|NM_213569.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=NEBL:NM_213569:exon7:c.A765G:p.T255T,NEBL:NM_006393:exon28:c.A2997G:p.T999T;cytoBand=10p12.31;genomicSuperDups=.;esp6500siv2_all=0.0930;esp6500siv2_ea=0.0762;esp6500siv2_all=0.0930;esp6500siv2_ea=0.0762;1000g2015aug_all=0.0666933;avsnp147=rs2296614;Kaviar_AF=0.076836;Kaviar_AC=11879;Kaviar_AN=154602;ExAC_ALL=0.0779;ExAC_AFR=0.1195;ExAC_AMR=0.1618;ExAC_EAS=0.0008;ExAC_FIN=0.0569;ExAC_NFE=0.0737;ExAC_OTH=0.0839;ExAC_SAS=0.0585;CLNALLELEID=54663;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0799;gnomAD_exome_AFR=0.1219;gnomAD_exome_AMR=0.1558;gnomAD_exome_ASJ=0.0959;gnomAD_exome_EAS=0.0008;gnomAD_exome_FIN=0.0535;gnomAD_exome_NFE=0.0734;gnomAD_exome_OTH=0.0815;gnomAD_exome_SAS=0.0583;gnomAD_genome_ALL=0.0830;gnomAD_genome_AFR=0.1155;gnomAD_genome_AMR=0.1360;gnomAD_genome_ASJ=0.1026;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0510;gnomAD_genome_NFE=0.0776;gnomAD_genome_OTH=0.0743;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:92:0,42 . . 1:84:0,38 . . . . . . . . . . . . . . . . . . 1:114:0,68 . 1:99:0,45 1:59:0,30 . . . . . . . . . . . 1:68:0,34 . . . . 10 21074724 45497;rs2296614 T C 200.00 . #_unique_end_positions=,37;#_unique_start_positions=,31;AC=6;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1210;AF_ESP_clinvar_20171029_hg19=,0.0930;AF_EXAC_clinvar_20171029_hg19=,0.07791;AF_TGP_clinvar_20171029_hg19=,0.0667;ALLELEID_clinvar_20171029_hg19=,54663;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1052;AN=6;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.9333|0.06669;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000010.10:g.21074724T>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001173484.1:c.*88A>G|_NM_006393.2:c.2997A>G|_NM_213569.2:c.765A>G;Coding_region_change_in_longest_transcript=,NM_006393.2:c.2997A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0527;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,40;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,NEBL:10529;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:10529;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:10529;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:16932;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:16932;Homo_sapiens_refseq_GRCh37.p13_Genes=,NEBL;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_006393.2|NM_001173484.1|NM_213569.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene20901;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna29739|rna29737|rna29738;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001624|3_prime_UTR_variant|SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:605491;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:605491;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene20901;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,21074724;RS_dbsnp_common_v150_hg19_refseq=,2296614;Read_count=,52;Read_coverage=,113;Read_direction_test_probability=,0.9338172946307324;Read_position_test_probability=,0.866875607085767;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_006393.2|NM_001173484.1|NM_213569.2;Reverse_read_coverage=,73;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0491;SF=0,3,22,24,25,37;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.906072|0.0939282;U3_dbsnp_common_v150_hg19_refseq=,U3;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05032880030515053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.173469;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0707965;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.00595238;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.0227273;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.0561798;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.15;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.0950704;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.0568182;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.115044;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.228;db_xref=,GeneID:10529|HGNC:HGNC:16932|MIM:605491;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:10403;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_006393.2|HPRD:10403|Genbank:NM_001173484.1|Genbank:NM_213569.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,nebulette;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,NEBL;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NEBL;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LASP2|LNEBL;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,nebulette|_transcript_variant_1|nebulette|_transcript_variant_3|nebulette|_transcript_variant_2;transcript_id=,NM_006393.2|NM_001173484.1|NM_213569.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=NEBL:NM_213569:exon7:c.A765G:p.T255T,NEBL:NM_006393:exon28:c.A2997G:p.T999T;cytoBand=10p12.31;genomicSuperDups=.;esp6500siv2_all=0.0930;esp6500siv2_ea=0.0762;esp6500siv2_all=0.0930;esp6500siv2_ea=0.0762;1000g2015aug_all=0.0666933;avsnp147=rs2296614;Kaviar_AF=0.076836;Kaviar_AC=11879;Kaviar_AN=154602;ExAC_ALL=0.0779;ExAC_AFR=0.1195;ExAC_AMR=0.1618;ExAC_EAS=0.0008;ExAC_FIN=0.0569;ExAC_NFE=0.0737;ExAC_OTH=0.0839;ExAC_SAS=0.0585;CLNALLELEID=54663;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0799;gnomAD_exome_AFR=0.1219;gnomAD_exome_AMR=0.1558;gnomAD_exome_ASJ=0.0959;gnomAD_exome_EAS=0.0008;gnomAD_exome_FIN=0.0535;gnomAD_exome_NFE=0.0734;gnomAD_exome_OTH=0.0815;gnomAD_exome_SAS=0.0583;gnomAD_genome_ALL=0.0830;gnomAD_genome_AFR=0.1155;gnomAD_genome_AMR=0.1360;gnomAD_genome_ASJ=0.1026;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0510;gnomAD_genome_NFE=0.0776;gnomAD_genome_OTH=0.0743;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:92:0,42 . . 1:84:0,38 . . . . . . . . . . . . . . . . . . 1:114:0,68 . 1:99:0,45 1:59:0,30 . . . . . . . . . . . 1:68:0,34 . . . . 10 21097527 378267;rs202127185 T C 129.78 . #_unique_end_positions=,18;#_unique_start_positions=,15;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;ALLELEID_clinvar_20171029_hg19=,370678;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AN=1;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.59;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000010.10:g.21097527T>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_single_submitter;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;Coding_region_change=,NM_001173484.1:c.529+4171A>G|_NM_006393.2:c.2673A>G|_NM_213569.2:c.529+4171A>G;Coding_region_change_in_longest_transcript=,NM_006393.2:c.2673A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;Exact_match=,clinvar_20171029_hg19|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,23;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:10529;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:10529;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:16932;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:16932;Homo_sapiens_refseq_GRCh37.p13_Genes=,NEBL;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_006393.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene20901;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna29739;MC_clinvar_20171029_hg19=,SO:0001627|intron_variant|SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:605491;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:605491;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene20901;QUAL=,129.7778143285294;Read_count=,25;Read_coverage=,56;Read_direction_test_probability=,0.9921369285602345;Read_position_test_probability=,0.5181652871481308;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_006393.2;Reverse_read_coverage=,33;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=30;conservation_score=,0.998;db_xref=,GeneID:10529|HGNC:HGNC:16932|MIM:605491;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:10403;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_006393.2|HPRD:10403;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,nebulette;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,NEBL;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NEBL;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LASP2|LNEBL;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,nebulette|_transcript_variant_1;transcript_id=,NM_006393.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=NEBL:NM_006393:exon26:c.A2673G:p.T891T;cytoBand=10p12.31;genomicSuperDups=.;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;1000g2015aug_all=0.000199681;avsnp147=rs202127185;Kaviar_AF=0.0002911;Kaviar_AC=45;Kaviar_AN=154602;ExAC_ALL=0.0003;ExAC_AFR=9.651e-05;ExAC_AMR=0.0003;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0006;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=370678;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=2.7282;dpsi_zscore=2.173;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0005;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0002;gnomAD_exome_ASJ=0.0083;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0002;gnomAD_exome_OTH=0.0007;gnomAD_exome_SAS=3.249e-05;gnomAD_genome_ALL=0.0001;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0001;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:50:0,20 . . . . . . . . . . . 10 21108377 45489;rs1006363 C T 182.70 . #_unique_end_positions=,34;#_unique_start_positions=,34;AC=20;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0204;AF_ESP_clinvar_20171029_hg19=,0.2211;AF_EXAC_clinvar_20171029_hg19=,0.24767;AF_TGP_clinvar_20171029_hg19=,0.1837;ALLELEID_clinvar_20171029_hg19=,54655;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2190;AN=20;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.54;CAF_dbsnp_common_v150_hg19_refseq=,0.8163|0.1837;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000010.10:g.21108377C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001173484.1:c.358-6508G>A|_NM_006393.2:c.2031G>A|_NM_213569.2:c.358-6508G>A;Coding_region_change_in_longest_transcript=,NM_006393.2:c.2031G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2520;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2992;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,21;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,NEBL:10529;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:10529;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:10529;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:16932;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:16932;Homo_sapiens_refseq_GRCh37.p13_Genes=,NEBL;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_006393.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene20901;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna29739;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001627|intron_variant|SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:605491;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:605491;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene20901;QUAL=,138.14710683789767;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,21108377;RS_dbsnp_common_v150_hg19_refseq=,1006363;Read_count=,58;Read_coverage=,85;Read_direction_test_probability=,0.9740557242967589;Read_position_test_probability=,0.9950770296079069;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_006393.2;Reverse_read_coverage=,64;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1902;SF=0,2,5,7,8,10,11,16,18,19,20,25,28,29,30,31,36,40;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.813071|0.186929;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05012808030515053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.0625;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.341667;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.292683;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.25;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.147727;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.277778;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.233333;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.0172414;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.239583;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.289773;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.00446429;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.026;db_xref=,GeneID:10529|HGNC:HGNC:16932|MIM:605491;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:10403;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_006393.2|HPRD:10403;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,nebulette;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,NEBL;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NEBL;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LASP2|LNEBL;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,nebulette|_transcript_variant_1;transcript_id=,NM_006393.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=NEBL:NM_006393:exon20:c.G2031A:p.R677R;cytoBand=10p12.31;genomicSuperDups=.;esp6500siv2_all=0.2211;esp6500siv2_ea=0.2952;esp6500siv2_all=0.2211;esp6500siv2_ea=0.2952;1000g2015aug_all=0.183706;avsnp147=rs1006363;Kaviar_AF=0.237397;Kaviar_AC=36702;Kaviar_AN=154602;ExAC_ALL=0.2477;ExAC_AFR=0.0646;ExAC_AMR=0.1583;ExAC_EAS=0.2342;ExAC_FIN=0.3812;ExAC_NFE=0.2958;ExAC_OTH=0.2489;ExAC_SAS=0.1847;CLNALLELEID=54655;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=2.3720;dpsi_zscore=2.080;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2481;gnomAD_exome_AFR=0.0619;gnomAD_exome_AMR=0.1658;gnomAD_exome_ASJ=0.1998;gnomAD_exome_EAS=0.2276;gnomAD_exome_FIN=0.3723;gnomAD_exome_NFE=0.2986;gnomAD_exome_OTH=0.2381;gnomAD_exome_SAS=0.1861;gnomAD_genome_ALL=0.2366;gnomAD_genome_AFR=0.0626;gnomAD_genome_AMR=0.1790;gnomAD_genome_ASJ=0.1656;gnomAD_genome_EAS=0.2189;gnomAD_genome_FIN=0.3909;gnomAD_genome_NFE=0.3057;gnomAD_genome_OTH=0.2818;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:79:0,52 . 1:71:0,35 . . 1:63:0,25 . 1:61:0,24 1:84:0,36 . 1:90:0,44 1/1:68:0,68 . . . . 1:80:0,39 . 1:64:0,41 1:71:0,37 1:93:0,52 . . . . 1:76:0,40 . . 1/1:85:0,85 1:81:0,38 1:87:0,56 1:49:0,23 . . . . 1:81:0,49 . . . 1:63:0,27 . 10 21112137 45488;rs4748728 A T 77.16 . #_unique_end_positions=,12;#_unique_start_positions=,11;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2337;AF_ESP_clinvar_20171029_hg19=,0.0800;AF_EXAC_clinvar_20171029_hg19=,0.06059;AF_TGP_clinvar_20171029_hg19=,0.1246;ALLELEID_clinvar_20171029_hg19=,54654;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0692;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_006384.1:p.Asn654Lys;Amino_acid_change_in_longest_transcript=,NP_006384.1:p.Asn654Lys;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.8754|0.1246;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000010.10:g.21112137A>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,UniProtKB_(protein):O76041#VAR_010291;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001173484.1:c.358-10268T>A|_NM_006393.2:c.1962T>A|_NM_213569.2:c.358-10268T>A;Coding_region_change_in_longest_transcript=,NM_006393.2:c.1962T>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1220;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0288;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,15;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,NEBL:10529;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:10529;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:10529;Genotype=,A/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:16932;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:16932;Homo_sapiens_refseq_GRCh37.p13_Genes=,NEBL;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_006393.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene20901;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna29739;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant|SO:0001627|intron_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:605491;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:605491;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene20901;QUAL=,77.15720881523178;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,21112137;RS_dbsnp_common_v150_hg19_refseq=,4748728;Read_count=,14;Read_coverage=,24;Read_direction_test_probability=,0.9963347817521093;Read_position_test_probability=,0.985272861930702;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_006393.2;Reverse_read_coverage=,9;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1176;SF=15;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.892884|0.107116;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128080a0515053f000101;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.1;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.204545;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.186441;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.995;db_xref=,GeneID:10529|HGNC:HGNC:16932|MIM:605491;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:10403;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_006393.2|HPRD:10403;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,nebulette;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,NEBL;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NEBL;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LASP2|LNEBL;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,nebulette|_transcript_variant_1;transcript_id=,NM_006393.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=NEBL:NM_006393:exon19:c.T1962A:p.N654K;cytoBand=10p12.31;genomicSuperDups=.;esp6500siv2_all=0.0800;esp6500siv2_ea=0.0224;esp6500siv2_all=0.0800;esp6500siv2_ea=0.0224;1000g2015aug_all=0.124601;avsnp147=rs4748728;Kaviar_AF=0.0565517;Kaviar_AC=8743;Kaviar_AN=154602;ExAC_ALL=0.0606;ExAC_AFR=0.2019;ExAC_AMR=0.0724;ExAC_EAS=0.1231;ExAC_FIN=0.0269;ExAC_NFE=0.0231;ExAC_OTH=0.0552;ExAC_SAS=0.0941;CLNALLELEID=54654;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.057;SIFT_pred=T;Polyphen2_HDIV_score=0.032;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.02;Polyphen2_HVAR_pred=B;LRT_score=0.016;LRT_pred=N;MutationTaster_score=0.070;MutationTaster_pred=P;MutationAssessor_score=2.18;MutationAssessor_pred=M;FATHMM_score=0.89;FATHMM_pred=T;PROVEAN_score=-1.88;PROVEAN_pred=N;VEST3_score=0.07;CADD_raw=2.904;CADD_phred=21.9;DANN_score=0.993;fathmm-MKL_coding_score=0.949;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.054;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=4.84;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.199;phastCons7way_vertebrate=0.959;phastCons20way_mammalian=0.999;SiPhy_29way_logOdds=9.031;GDI_full_10282015=.;dpsi_max_tissue=0.1618;dpsi_zscore=0.644;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0559;gnomAD_exome_AFR=0.2009;gnomAD_exome_AMR=0.0717;gnomAD_exome_ASJ=0.0162;gnomAD_exome_EAS=0.1164;gnomAD_exome_FIN=0.0279;gnomAD_exome_NFE=0.0216;gnomAD_exome_OTH=0.0460;gnomAD_exome_SAS=0.0903;gnomAD_genome_ALL=0.0728;gnomAD_genome_AFR=0.1864;gnomAD_genome_AMR=0.0621;gnomAD_genome_ASJ=0.0133;gnomAD_genome_EAS=0.0976;gnomAD_genome_FIN=0.0284;gnomAD_genome_NFE=0.0187;gnomAD_genome_OTH=0.0368;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . . . . . . . 1:22:0,12 . . . . . . . . . . . . . . . . . . . . . . . . . . 10 21124544 . G A 44.95 . #_unique_end_positions=,17;#_unique_start_positions=,11;AC=1;AN=1;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.2;Coding_region_change=,NM_001173484.1:c.358-22675C>T|_NM_006393.2:c.1347C>T|_NM_213569.2:c.358-22675C>T;Coding_region_change_in_longest_transcript=,NM_006393.2:c.1347C>T;Forward_read_coverage=,13;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:10529;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:10529;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:16932;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:16932;Homo_sapiens_refseq_GRCh37.p13_Genes=,NEBL;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_006393.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene20901;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna29739;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:605491;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:605491;Non-synonymous=,No;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene20901;QUAL=,44.9468700040492;Read_count=,21;Read_coverage=,30;Read_direction_test_probability=,0.9998351432944159;Read_position_test_probability=,0.8533010677868642;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_006393.2;Reverse_read_coverage=,17;SF=33;conservation_score=,1.0;db_xref=,GeneID:10529|HGNC:HGNC:16932|MIM:605491;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:10403;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_006393.2|HPRD:10403;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,nebulette;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,NEBL;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NEBL;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LASP2|LNEBL;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,nebulette|_transcript_variant_1;transcript_id=,NM_006393.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=NEBL:NM_006393:exon14:c.C1347T:p.Y449Y;cytoBand=10p12.31;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs765401440;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=8.242e-06;ExAC_AFR=9.625e-05;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.3309;dpsi_zscore=1.699;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=3.275e-05;gnomAD_exome_AFR=0.0001;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=5.387e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:30:0,21 . . . . . . . . 10 21134282 45475;rs41277370 C G 40.16 . #_unique_end_positions=,4;#_unique_start_positions=,4;AC=8;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0053;AF_ESP_clinvar_20171029_hg19=,0.0610;AF_EXAC_clinvar_20171029_hg19=,0.06520;AF_TGP_clinvar_20171029_hg19=,0.0385;ALLELEID_clinvar_20171029_hg19=,54641;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0461;AN=8;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_006384.1:p.Asp378His;Amino_acid_change_in_longest_transcript=,NP_006384.1:p.Asp378His;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.9615|0.03854|.;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000010.10:g.21134282C>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,UniProtKB_(protein):O76041#VAR_051229;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001173484.1:c.358-32413G>C|_NM_006393.2:c.1132G>C|_NM_213569.2:c.358-32413G>C;Coding_region_change_in_longest_transcript=,NM_006393.2:c.1132G>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0268;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0835;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,2;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,NEBL:10529;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:10529;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:10529;Genotype=,C/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:16932;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:16932;Homo_sapiens_refseq_GRCh37.p13_Genes=,NEBL;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_006393.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene20901;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna29739;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant|SO:0001627|intron_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:605491;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:605491;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene20901;QUAL=,31.50171899965454;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,21134282;RS_dbsnp_common_v150_hg19_refseq=,41277370;Read_count=,5;Read_coverage=,12;Read_direction_test_probability=,0.9969083836898261;Read_position_test_probability=,0.9955014907317327;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_006393.2;Reverse_read_coverage=,10;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0440;SF=2,3,14,20,22,29,33,37;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.947421|0.0525792|.;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128080a05150536000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.978;db_xref=,GeneID:10529|HGNC:HGNC:16932|MIM:605491;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:10403;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_006393.2|HPRD:10403;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,nebulette;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,NEBL;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NEBL;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LASP2|LNEBL;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,nebulette|_transcript_variant_1;transcript_id=,NM_006393.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=NEBL:NM_006393:exon12:c.G1132C:p.D378H;cytoBand=10p12.31;genomicSuperDups=.;esp6500siv2_all=0.0610;esp6500siv2_ea=0.0828;esp6500siv2_all=0.0610;esp6500siv2_ea=0.0828;1000g2015aug_all=0.0385383;avsnp147=rs41277370;Kaviar_AF=0.0651544;Kaviar_AC=10073;Kaviar_AN=154602;ExAC_ALL=0.0652;ExAC_AFR=0.0173;ExAC_AMR=0.0422;ExAC_EAS=0.0183;ExAC_FIN=0.0439;ExAC_NFE=0.0832;ExAC_OTH=0.0787;ExAC_SAS=0.0704;CLNALLELEID=54641;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.002;SIFT_pred=D;Polyphen2_HDIV_score=0.912;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.9;Polyphen2_HVAR_pred=P;LRT_score=0.003;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.795;MutationAssessor_pred=M;FATHMM_score=0.59;FATHMM_pred=T;PROVEAN_score=-5.66;PROVEAN_pred=D;VEST3_score=0.244;CADD_raw=5.403;CADD_phred=26.0;DANN_score=0.994;fathmm-MKL_coding_score=0.923;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.908;MetaSVM_pred=T;MetaLR_score=0.030;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=4.24;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.999;phastCons20way_mammalian=0.998;SiPhy_29way_logOdds=9.023;GDI_full_10282015=.;dpsi_max_tissue=1.7380;dpsi_zscore=1.878;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0663;gnomAD_exome_AFR=0.0152;gnomAD_exome_AMR=0.0420;gnomAD_exome_ASJ=0.1655;gnomAD_exome_EAS=0.0192;gnomAD_exome_FIN=0.0467;gnomAD_exome_NFE=0.0808;gnomAD_exome_OTH=0.0820;gnomAD_exome_SAS=0.0718;gnomAD_genome_ALL=0.0549;gnomAD_genome_AFR=0.0218;gnomAD_genome_AMR=0.0525;gnomAD_genome_ASJ=0.1887;gnomAD_genome_EAS=0.0297;gnomAD_genome_FIN=0.0513;gnomAD_genome_NFE=0.0742;gnomAD_genome_OTH=0.0716;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:DP:CLCAD2 . . 1:11:0,4 1:20:0,14 . . . . . . . . . . 1:20:0,12 . . . . . 1:11:0,6 . 1:11:0,7 . . . . . . 1:10:0,5 . . . 1:14:0,7 . . . 1:10:0,7 . . . . 10 21139389 45472;rs4025981 T C 69.25 . #_unique_end_positions=,7;#_unique_start_positions=,7;AC=12;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0053;AF_ESP_clinvar_20171029_hg19=,0.0611;AF_EXAC_clinvar_20171029_hg19=,0.06504;AF_TGP_clinvar_20171029_hg19=,0.0387;ALLELEID_clinvar_20171029_hg19=,54638;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0461;AN=12;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_006384.1:p.Met351Val;Amino_acid_change_in_longest_transcript=,NP_006384.1:p.Met351Val;BaseQRankSum=,-0.51;CAF_dbsnp_common_v150_hg19_refseq=,0.9613|0.03874;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000010.10:g.21139389T>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,UniProtKB_(protein):O76041#VAR_010290;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001173484.1:c.358-37520A>G|_NM_006393.2:c.1051A>G|_NM_213569.2:c.358-37520A>G;Coding_region_change_in_longest_transcript=,NM_006393.2:c.1051A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0268;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0835;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,7;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,NEBL:10529;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:10529;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:10529;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:16932;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:16932;Homo_sapiens_refseq_GRCh37.p13_Genes=,NEBL;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_006393.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene20901;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna29739;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant|SO:0001627|intron_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:605491;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:605491;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene20901;QUAL=,50.00137168424659;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,21139389;RS_dbsnp_common_v150_hg19_refseq=,4025981;Read_count=,9;Read_coverage=,22;Read_direction_test_probability=,0.9049694652106799;Read_position_test_probability=,0.9805100733167588;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_006393.2;Reverse_read_coverage=,15;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0450;SF=2,3,13,14,19,20,22,29,30,33,35,37;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.947318|0.0526822;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128080a05150537000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.0204082;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0916667;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.0487805;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.0117647;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.0568182;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0333333;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.0277778;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.0714286;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.048951;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.0965909;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.00442478;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.762;db_xref=,GeneID:10529|HGNC:HGNC:16932|MIM:605491;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:10403;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_006393.2|HPRD:10403;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,nebulette;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,NEBL;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NEBL;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LASP2|LNEBL;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,nebulette|_transcript_variant_1;transcript_id=,NM_006393.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=NEBL:NM_006393:exon11:c.A1051G:p.M351V;cytoBand=10p12.31;genomicSuperDups=.;esp6500siv2_all=0.0611;esp6500siv2_ea=0.0834;esp6500siv2_all=0.0611;esp6500siv2_ea=0.0834;1000g2015aug_all=0.038738;avsnp147=rs4025981;Kaviar_AF=0.0653226;Kaviar_AC=10099;Kaviar_AN=154602;ExAC_ALL=0.0650;ExAC_AFR=0.0167;ExAC_AMR=0.0419;ExAC_EAS=0.0181;ExAC_FIN=0.0434;ExAC_NFE=0.0833;ExAC_OTH=0.0795;ExAC_SAS=0.0701;CLNALLELEID=54638;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.091;SIFT_pred=T;Polyphen2_HDIV_score=0.017;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.019;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=1.925;MutationAssessor_pred=M;FATHMM_score=3.63;FATHMM_pred=T;PROVEAN_score=-3.39;PROVEAN_pred=D;VEST3_score=0.306;CADD_raw=1.032;CADD_phred=10.84;DANN_score=0.918;fathmm-MKL_coding_score=0.703;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.988;MetaSVM_pred=T;MetaLR_score=0.001;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=4.11;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=0.113;phastCons7way_vertebrate=0.991;phastCons20way_mammalian=0.937;SiPhy_29way_logOdds=9.009;GDI_full_10282015=.;dpsi_max_tissue=-1.1031;dpsi_zscore=-1.530;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0667;gnomAD_exome_AFR=0.0154;gnomAD_exome_AMR=0.0418;gnomAD_exome_ASJ=0.1708;gnomAD_exome_EAS=0.0191;gnomAD_exome_FIN=0.0469;gnomAD_exome_NFE=0.0811;gnomAD_exome_OTH=0.0827;gnomAD_exome_SAS=0.0720;gnomAD_genome_ALL=0.0553;gnomAD_genome_AFR=0.0221;gnomAD_genome_AMR=0.0525;gnomAD_genome_ASJ=0.1887;gnomAD_genome_EAS=0.0296;gnomAD_genome_FIN=0.0515;gnomAD_genome_NFE=0.0743;gnomAD_genome_OTH=0.0755;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . 1:19:0,7 1:19:0,10 . . . . . . . . . 1:18:0,12 1:23:0,13 . . . . 1:18:0,12 1:25:0,11 . 1:28:0,13 . . . . . . 1:26:0,10 1:23:0,12 . . 1:19:0,11 . 1:20:0,10 . 1:26:0,10 . . . . 10 21157673 45499;rs137973321 C T 38.65 . #_unique_end_positions=,6;#_unique_start_positions=,6;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0015;AF_ESP_clinvar_20171029_hg19=,0.0018;AF_EXAC_clinvar_20171029_hg19=,0.00213;AF_TGP_clinvar_20171029_hg19=,0.0014;ALLELEID_clinvar_20171029_hg19=,54665;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0029;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_006384.1:p.Gly202Arg;Amino_acid_change_in_longest_transcript=,NP_006384.1:p.Gly202Arg;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.9986|0.001398;CLNDISDB_clinvar_20171029_hg19=,MedGen:C0007193|Orphanet:ORPHA217604|SNOMED_CT:195021004|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Primary_dilated_cardiomyopathy|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000010.10:g.21157673C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_conflicting_interpretations;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001173484.1:c.358-55804G>A|_NM_006393.2:c.604G>A|_NM_213569.2:c.358-55804G>A;Coding_region_change_in_longest_transcript=,NM_006393.2:c.604G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0030;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,7;GENEINFO_dbsnp_common_v150_hg19_refseq=,NEBL:10529;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:10529;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:10529;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:16932;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:16932;Homo_sapiens_refseq_GRCh37.p13_Genes=,NEBL;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_006393.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene20901;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna29739;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant|SO:0001627|intron_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:605491;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:605491;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene20901;QUAL=,38.64779929573854;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,21157673;RS_dbsnp_common_v150_hg19_refseq=,137973321;Read_count=,7;Read_coverage=,19;Read_direction_test_probability=,0.9934692210401264;Read_position_test_probability=,0.9612287575896421;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_006393.2;Reverse_read_coverage=,12;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=32;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.998935|0.00106463;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050028080a05040036000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.999;db_xref=,GeneID:10529|HGNC:HGNC:16932|MIM:605491;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:10403;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_006393.2|HPRD:10403;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,nebulette;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,NEBL;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NEBL;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LASP2|LNEBL;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,nebulette|_transcript_variant_1;transcript_id=,NM_006393.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=NEBL:NM_006393:exon7:c.G604A:p.G202R;cytoBand=10p12.31;genomicSuperDups=.;esp6500siv2_all=0.0018;esp6500siv2_ea=0.0022;esp6500siv2_all=0.0018;esp6500siv2_ea=0.0022;1000g2015aug_all=0.00139776;avsnp147=rs137973321;Kaviar_AF=0.0020828;Kaviar_AC=322;Kaviar_AN=154602;ExAC_ALL=0.0021;ExAC_AFR=0.0009;ExAC_AMR=0.0018;ExAC_EAS=0;ExAC_FIN=0.0021;ExAC_NFE=0.0031;ExAC_OTH=0.0033;ExAC_SAS=0.0002;CLNALLELEID=54665;CLNDN=Primary_dilated_cardiomyopathy|not_specified;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.461;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.002;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=0.69;MutationAssessor_pred=N;FATHMM_score=3.61;FATHMM_pred=T;PROVEAN_score=-0.46;PROVEAN_pred=N;VEST3_score=0.703;CADD_raw=2.566;CADD_phred=19.89;DANN_score=0.813;fathmm-MKL_coding_score=0.778;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.042;MetaSVM_pred=T;MetaLR_score=0.025;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=4.17;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.866;phastCons7way_vertebrate=0.989;phastCons20way_mammalian=0.989;SiPhy_29way_logOdds=8.948;GDI_full_10282015=.;dpsi_max_tissue=1.5343;dpsi_zscore=1.794;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM106907#"Cardiomyopathy_dilated";gnomAD_exome_ALL=0.0021;gnomAD_exome_AFR=0.0005;gnomAD_exome_AMR=0.0028;gnomAD_exome_ASJ=0.0033;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0017;gnomAD_exome_NFE=0.0029;gnomAD_exome_OTH=0.0026;gnomAD_exome_SAS=0.0002;gnomAD_genome_ALL=0.0017;gnomAD_genome_AFR=0.0005;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0020;gnomAD_genome_NFE=0.0023;gnomAD_genome_OTH=0.0031;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:18:0,6 . . . . . . . . . 10 21186218 rs71578974 G A 200.00 . #_unique_end_positions=,23;#_unique_start_positions=,22;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0014;AN=1;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;Coding_region_change=,NM_001173484.1:c.357+64383C>T|_NM_006393.2:c.-84C>T|_NM_213569.2:c.357+64383C>T;Coding_region_change_in_longest_transcript=,NM_006393.2:c.-84C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0020;Exact_match=,1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,25;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:10529;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:10529;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:16932;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:16932;Homo_sapiens_refseq_GRCh37.p13_Genes=,NEBL;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_006393.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene20901;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna29739;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:605491;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:605491;Non-synonymous=,-;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene20901;QUAL=,200.0;Read_count=,29;Read_coverage=,78;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9814442283979061;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_006393.2;Reverse_read_coverage=,53;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=16;conservation_score=,0.0;db_xref=,GeneID:10529|HGNC:HGNC:16932|MIM:605491;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:10403;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_006393.2|HPRD:10403;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,nebulette;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,NEBL;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NEBL;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LASP2|LNEBL;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,nebulette|_transcript_variant_1;transcript_id=,NM_006393.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR5;Gene.refGene=NEBL;GeneDetail.refGene=NM_006393:c.-84C>T;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10p12.31;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.000599042;avsnp147=rs71578974;Kaviar_AF=0.0019594;Kaviar_AC=51;Kaviar_AN=26028;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.0017;gnomAD_genome_AFR=0.0006;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0020;gnomAD_genome_NFE=0.0027;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . 1:70:0,28 . . . . . . . . . . . . . . . . . . . . . . . . . 10 67829103 . T C 141.22 . #_unique_end_positions=,18;#_unique_start_positions=,16;AC=1;AN=1;Amino_acid_change=,NP_001120856.1:p.Met708Val|_NP_037398.2:p.Met708Val;Amino_acid_change_in_longest_transcript=,NP_037398.2:p.Met708Val;BaseQRankSum=,0.0;Coding_region_change=,NM_001127384.2:c.2122A>G|_NM_013266.3:c.2122A>G;Coding_region_change_in_longest_transcript=,NM_013266.3:c.2122A>G;Forward_read_coverage=,25;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:29119;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:29119;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:2511;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:2511;Homo_sapiens_refseq_GRCh37.p13_Genes=,CTNNA3;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001127384.2|NM_013266.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene21387;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna30582|rna30581;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:607667;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:607667;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene21387;QUAL=,141.22080857484767;Read_count=,21;Read_coverage=,48;Read_direction_test_probability=,0.998452383616999;Read_position_test_probability=,0.8364395955610857;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001127384.2|NM_013266.3;Reverse_read_coverage=,23;SF=27;conservation_score=,1.0;db_xref=,GeneID:29119|HGNC:HGNC:2511|MIM:607667;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001127384.2|Genbank:NM_013266.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,catenin_alpha_3;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CTNNA3;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,CTNNA3;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARVD13|VR22;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,catenin_alpha_3|_transcript_variant_2|catenin_alpha_3|_transcript_variant_1;transcript_id=,NM_001127384.2|NM_013266.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CTNNA3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CTNNA3:NM_001127384:exon15:c.A2122G:p.M708V,CTNNA3:NM_013266:exon15:c.A2122G:p.M708V;cytoBand=10q21.3;genomicSuperDups=.;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=.;avsnp147=rs148554495;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;ExAC_ALL=3.296e-05;ExAC_AFR=0;ExAC_AMR=8.64e-05;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=2.998e-05;ExAC_OTH=0;ExAC_SAS=6.058e-05;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.001;SIFT_pred=D;Polyphen2_HDIV_score=0.843;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.926;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=3.145;MutationAssessor_pred=M;FATHMM_score=0.37;FATHMM_pred=T;PROVEAN_score=-2.99;PROVEAN_pred=D;VEST3_score=0.917;CADD_raw=3.375;CADD_phred=22.9;DANN_score=0.989;fathmm-MKL_coding_score=0.973;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.111;MetaSVM_pred=T;MetaLR_score=0.399;MetaLR_pred=T;integrated_fitCons_score=0.638;integrated_confidence_value=0;GERP++_RS=5.29;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=1.011;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=0.999;SiPhy_29way_logOdds=13.176;GDI_full_10282015=.;dpsi_max_tissue=1.2318;dpsi_zscore=1.652;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=2.442e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=8.939e-05;gnomAD_exome_ASJ=0.0001;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=8.991e-06;gnomAD_exome_OTH=0;gnomAD_exome_SAS=3.25e-05;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:46:0,20 . . . . . . . . . . . . . . 10 68040240 415368;rs10997034 G T 64.82 . #_unique_end_positions=,11;#_unique_start_positions=,9;AC=4;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1392;ALLELEID_clinvar_20171029_hg19=,397545;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0115;AN=4;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.9309|0.06909;CLNDISDB_clinvar_20171029_hg19=,MedGen:C3810138|OMIM:615616;CLNDN_clinvar_20171029_hg19=,Arrhythmogenic_right_ventricular_dysplasia|_familial|_13;CLNHGVS_clinvar_20171029_hg19=,NC_000010.10:g.68040240G>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_single_submitter;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001127384.2:c.1872C>A|_NM_013266.3:c.1872C>A;Coding_region_change_in_longest_transcript=,NM_013266.3:c.1872C>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0456;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0119;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,15;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,CTNNA3:29119;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:29119;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:29119;Genotype=,G/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:2511;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:2511;Homo_sapiens_refseq_GRCh37.p13_Genes=,CTNNA3;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001127384.2|NM_013266.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene21387;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna30582|rna30581;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:607667;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:607667;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene21387;QUAL=,80.537951511463;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,68040240;RS_dbsnp_common_v150_hg19_refseq=,10997034;Read_count=,11;Read_coverage=,22;Read_direction_test_probability=,0.99584200184511;Read_position_test_probability=,0.9905097295833394;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001127384.2|NM_013266.3;Reverse_read_coverage=,7;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0982;SF=3,12,19,30;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.941686|0.0583144;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05030000030515053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.163265;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.00442478;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.0365854;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.0823529;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.103448;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0465116;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0406977;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.172222;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.104895;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.0227273;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0973451;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.996;db_xref=,GeneID:29119|HGNC:HGNC:2511|MIM:607667;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001127384.2|Genbank:NM_013266.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,catenin_alpha_3;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CTNNA3;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,CTNNA3;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARVD13|VR22;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,catenin_alpha_3|_transcript_variant_2|catenin_alpha_3|_transcript_variant_1;transcript_id=,NM_001127384.2|NM_013266.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CTNNA3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CTNNA3:NM_001127384:exon13:c.C1872A:p.V624V,CTNNA3:NM_013266:exon13:c.C1872A:p.V624V;cytoBand=10q21.3;genomicSuperDups=.;esp6500siv2_all=0.0481;esp6500siv2_ea=0.0205;esp6500siv2_all=0.0481;esp6500siv2_ea=0.0205;1000g2015aug_all=0.0690895;avsnp147=rs10997034;Kaviar_AF=0.0360862;Kaviar_AC=5579;Kaviar_AN=154602;ExAC_ALL=0.0380;ExAC_AFR=0.1097;ExAC_AMR=0.0103;ExAC_EAS=0.0490;ExAC_FIN=0.0077;ExAC_NFE=0.0210;ExAC_OTH=0.0310;ExAC_SAS=0.0878;CLNALLELEID=397545;CLNDN=Arrhythmogenic_right_ventricular_dysplasia,_familial,_13|not_specified;CLNDISDB=MedGen:C3810138,OMIM:615616|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0287;dpsi_zscore=-0.157;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0341;gnomAD_exome_AFR=0.1087;gnomAD_exome_AMR=0.0114;gnomAD_exome_ASJ=0.0662;gnomAD_exome_EAS=0.0485;gnomAD_exome_FIN=0.0061;gnomAD_exome_NFE=0.0181;gnomAD_exome_OTH=0.0278;gnomAD_exome_SAS=0.0840;gnomAD_genome_ALL=0.0441;gnomAD_genome_AFR=0.1089;gnomAD_genome_AMR=0.0203;gnomAD_genome_ASJ=0.0762;gnomAD_genome_EAS=0.0580;gnomAD_genome_FIN=0.0046;gnomAD_genome_NFE=0.0161;gnomAD_genome_OTH=0.0245;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . 1:21:0,11 . . . . . . . . 1:15:0,3 . . . . . . 1:14:0,8 . . . . . . . . . . 1:34:0,18 . . . . . . . . . . . 10 68040325 rs4548513 C T 76.84 . #_unique_end_positions=,11;#_unique_start_positions=,11;AC=36;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7269;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4121;AN=36;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_037398.2:p.Ser596Asn|_NP_001120856.1:p.Ser596Asn;Amino_acid_change_in_longest_transcript=,NP_037398.2:p.Ser596Asn;BaseQRankSum=,-1.18;CAF_dbsnp_common_v150_hg19_refseq=,0.515|0.485;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001127384.2:c.1787G>A|_NM_013266.3:c.1787G>A;Coding_region_change_in_longest_transcript=,NM_013266.3:c.1787G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4187;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3748;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,7;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,CTNNA3:29119;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:29119;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:29119;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:2511;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:2511;Homo_sapiens_refseq_GRCh37.p13_Genes=,CTNNA3;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001127384.2|NM_013266.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene21387;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna30582|rna30581;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:607667;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:607667;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene21387;QUAL=,77.31391044923632;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,68040325;RS_dbsnp_common_v150_hg19_refseq=,4548513;Read_count=,11;Read_coverage=,30;Read_direction_test_probability=,0.9817291885980861;Read_position_test_probability=,0.6629847219609402;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001127384.2|NM_013266.3;Reverse_read_coverage=,23;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3916;SF=2,3,6,8,10,12,13,15,18,19,20,21,23,25,27,28,30,31,32,33,34,35,36,38,39;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.49138|0.50862;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050328000a0517053e000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.391667;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.522222;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.455556;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.791667;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.635;db_xref=,GeneID:29119|HGNC:HGNC:2511|MIM:607667;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001127384.2|Genbank:NM_013266.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,catenin_alpha_3;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CTNNA3;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,CTNNA3;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARVD13|VR22;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,catenin_alpha_3|_transcript_variant_2|catenin_alpha_3|_transcript_variant_1;transcript_id=,NM_001127384.2|NM_013266.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CTNNA3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CTNNA3:NM_001127384:exon13:c.G1787A:p.S596N,CTNNA3:NM_013266:exon13:c.G1787A:p.S596N;cytoBand=10q21.3;genomicSuperDups=.;esp6500siv2_all=0.4666;esp6500siv2_ea=0.3621;esp6500siv2_all=0.4666;esp6500siv2_ea=0.3621;1000g2015aug_all=0.485024;avsnp147=rs4548513;Kaviar_AF=0.404141;Kaviar_AC=62481;Kaviar_AN=154602;ExAC_ALL=0.4120;ExAC_AFR=0.6788;ExAC_AMR=0.4061;ExAC_EAS=0.4324;ExAC_FIN=0.4362;ExAC_NFE=0.3747;ExAC_OTH=0.3896;ExAC_SAS=0.3794;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-1.645;MutationAssessor_pred=N;FATHMM_score=1.27;FATHMM_pred=T;PROVEAN_score=2.04;PROVEAN_pred=N;VEST3_score=0.035;CADD_raw=0.202;CADD_phred=4.704;DANN_score=0.115;fathmm-MKL_coding_score=0.036;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.935;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=3.16;phyloP7way_vertebrate=0.084;phyloP20way_mammalian=0.090;phastCons7way_vertebrate=0.200;phastCons20way_mammalian=0.295;SiPhy_29way_logOdds=7.512;GDI_full_10282015=.;dpsi_max_tissue=-0.0807;dpsi_zscore=-0.387;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM074765#"Alzheimer_disease_increased_risk_association_with";gnomAD_exome_ALL=0.4038;gnomAD_exome_AFR=0.6798;gnomAD_exome_AMR=0.4078;gnomAD_exome_ASJ=0.3934;gnomAD_exome_EAS=0.4315;gnomAD_exome_FIN=0.4340;gnomAD_exome_NFE=0.3655;gnomAD_exome_OTH=0.3869;gnomAD_exome_SAS=0.3717;gnomAD_genome_ALL=0.4831;gnomAD_genome_AFR=0.6821;gnomAD_genome_AMR=0.4101;gnomAD_genome_ASJ=0.4139;gnomAD_genome_EAS=0.4588;gnomAD_genome_FIN=0.4406;gnomAD_genome_NFE=0.3892;gnomAD_genome_OTH=0.4191;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . 1:27:0,11 1/1:15:0,15 . . 1/1:16:0,16 . 1:24:0,14 . 1:22:0,6 . 1/1:15:0,15 1/1:28:0,28 . 1:25:0,10 . . 1:23:0,12 1/1:18:0,18 1:32:0,13 1:28:0,11 . 1/1:17:0,17 . 1:22:0,14 . 1/1:18:0,18 1:32:0,13 . 1/1:27:0,27 1/1:14:0,14 1:16:0,8 1:13:0,8 1:19:0,5 1:24:0,13 1/1:24:0,24 . 1/1:17:0,17 1:30:0,16 . . 10 69281701 240872;rs61749223 A T 145.31 . #_unique_end_positions=,14;#_unique_start_positions=,16;AC=3;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0008;AF_ESP_clinvar_20171029_hg19=,0.0177;AF_EXAC_clinvar_20171029_hg19=,0.02262;AF_TGP_clinvar_20171029_hg19=,0.0114;ALLELEID_clinvar_20171029_hg19=,240829;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0101;AN=3;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_037398.2:p.Ser160Thr|_NP_001120856.1:p.Ser160Thr|_NP_001278062.1:p.Ser172Thr;Amino_acid_change_in_longest_transcript=,NP_037398.2:p.Ser160Thr;BaseQRankSum=,-0.54;CAF_dbsnp_common_v150_hg19_refseq=,0.9886|0.01138;CLNDISDB_clinvar_20171029_hg19=,MedGen:C3810138|OMIM:615616;CLNDN_clinvar_20171029_hg19=,Arrhythmogenic_right_ventricular_dysplasia|_familial|_13;CLNHGVS_clinvar_20171029_hg19=,NC_000010.10:g.69281701A>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_single_submitter;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001127384.2:c.478T>A|_NM_001291133.1:c.514T>A|_NM_013266.3:c.478T>A;Coding_region_change_in_longest_transcript=,NM_013266.3:c.478T>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0229;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,6;GENEINFO_dbsnp_common_v150_hg19_refseq=,CTNNA3:29119;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:29119;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:29119;Genotype=,A/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:2511;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:2511;Homo_sapiens_refseq_GRCh37.p13_Genes=,CTNNA3;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001127384.2|NM_013266.3|NM_001291133.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene21387;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna30582|rna30581|rna30583;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:607667;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:607667;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene21387;QUAL=,106.29143895102038;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,69281701;RS_dbsnp_common_v150_hg19_refseq=,61749223;Read_count=,17;Read_coverage=,34;Read_direction_test_probability=,0.6318407051817476;Read_position_test_probability=,0.6153694079425818;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001127384.2|NM_013266.3|NM_001291133.1;Reverse_read_coverage=,28;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0266;SF=5,18,26;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.985645|0.0143554;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050100000a05140436000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.975;db_xref=,GeneID:29119|HGNC:HGNC:2511|MIM:607667;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001127384.2|Genbank:NM_013266.3|Genbank:NM_001291133.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,catenin_alpha_3;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CTNNA3;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,CTNNA3;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARVD13|VR22;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,catenin_alpha_3|_transcript_variant_2|catenin_alpha_3|_transcript_variant_1|catenin_alpha_3|_transcript_variant_3;transcript_id=,NM_001127384.2|NM_013266.3|NM_001291133.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CTNNA3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CTNNA3:NM_001127384:exon5:c.T478A:p.S160T,CTNNA3:NM_013266:exon5:c.T478A:p.S160T,CTNNA3:NM_001291133:exon6:c.T514A:p.S172T;cytoBand=10q21.3;genomicSuperDups=.;esp6500siv2_all=0.0177;esp6500siv2_ea=0.0253;esp6500siv2_all=0.0177;esp6500siv2_ea=0.0253;1000g2015aug_all=0.0113818;avsnp147=rs61749223;Kaviar_AF=0.0220114;Kaviar_AC=3403;Kaviar_AN=154602;ExAC_ALL=0.0226;ExAC_AFR=0.0038;ExAC_AMR=0.0164;ExAC_EAS=0.0001;ExAC_FIN=0.0328;ExAC_NFE=0.0252;ExAC_OTH=0.0255;ExAC_SAS=0.0361;CLNALLELEID=240829;CLNDN=Arrhythmogenic_right_ventricular_dysplasia,_familial,_13;CLNDISDB=MedGen:C3810138,OMIM:615616;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=0.102;SIFT_pred=T;Polyphen2_HDIV_score=0.979;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.973;Polyphen2_HVAR_pred=D;LRT_score=0.004;LRT_pred=N;MutationTaster_score=0.797;MutationTaster_pred=N;MutationAssessor_score=-0.14;MutationAssessor_pred=N;FATHMM_score=1.25;FATHMM_pred=T;PROVEAN_score=-0.92;PROVEAN_pred=N;VEST3_score=0.207;CADD_raw=2.461;CADD_phred=19.22;DANN_score=0.957;fathmm-MKL_coding_score=0.714;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.040;MetaSVM_pred=T;MetaLR_score=0.036;MetaLR_pred=T;integrated_fitCons_score=0.526;integrated_confidence_value=0;GERP++_RS=5.19;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.140;phastCons7way_vertebrate=0.993;phastCons20way_mammalian=0.994;SiPhy_29way_logOdds=11.439;GDI_full_10282015=.;dpsi_max_tissue=3.0295;dpsi_zscore=2.240;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0234;gnomAD_exome_AFR=0.0033;gnomAD_exome_AMR=0.0174;gnomAD_exome_ASJ=0.0331;gnomAD_exome_EAS=5.804e-05;gnomAD_exome_FIN=0.0307;gnomAD_exome_NFE=0.0247;gnomAD_exome_OTH=0.0227;gnomAD_exome_SAS=0.0397;gnomAD_genome_ALL=0.0197;gnomAD_genome_AFR=0.0055;gnomAD_genome_AMR=0.0143;gnomAD_genome_ASJ=0.0265;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0332;gnomAD_genome_NFE=0.0270;gnomAD_genome_OTH=0.0224;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . 1:30:0,16 . . . . . . . . . . . . 1:53:0,24 . . . . . . . 1:34:0,17 . . . . . . . . . . . . . . . 10 69299343 180309 C T 200.00 . #_unique_end_positions=,23;#_unique_start_positions=,24;AC=1;AF_EXAC_clinvar_20171029_hg19=,0.00004;ALLELEID_clinvar_20171029_hg19=,178622;AN=1;Amino_acid_change=,NP_001278062.1:p.Arg138His|_NP_037398.2:p.Arg126His|_NP_001120856.1:p.Arg126His;Amino_acid_change_in_longest_transcript=,NP_037398.2:p.Arg126His;BaseQRankSum=,-0.42;CLNDISDB_clinvar_20171029_hg19=,MeSH:D008133|MedGen:C0023976|SNOMED_CT:9651007;CLNDN_clinvar_20171029_hg19=,Long_QT_syndrome;CLNHGVS_clinvar_20171029_hg19=,NC_000010.10:g.69299343C>T;CLNREVSTAT_clinvar_20171029_hg19=,no_assertion_criteria_provided;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;Coding_region_change=,NM_001127384.2:c.377G>A|_NM_001291133.1:c.413G>A|_NM_013266.3:c.377G>A;Coding_region_change_in_longest_transcript=,NM_013266.3:c.377G>A;Exact_match=,clinvar_20171029_hg19;Forward_read_coverage=,24;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:29119;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:29119;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:2511;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:2511;Homo_sapiens_refseq_GRCh37.p13_Genes=,CTNNA3;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001127384.2|NM_013266.3|NM_001291133.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene21387;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna30582|rna30581|rna30583;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:607667;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:607667;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene21387;QUAL=,200.0;Read_count=,34;Read_coverage=,69;Read_direction_test_probability=,0.9803505165656093;Read_position_test_probability=,0.9967904223880558;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001127384.2|NM_013266.3|NM_001291133.1;Reverse_read_coverage=,45;SF=8;conservation_score=,0.999;db_xref=,GeneID:29119|HGNC:HGNC:2511|MIM:607667;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001127384.2|Genbank:NM_013266.3|Genbank:NM_001291133.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,catenin_alpha_3;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CTNNA3;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,CTNNA3;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARVD13|VR22;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,catenin_alpha_3|_transcript_variant_2|catenin_alpha_3|_transcript_variant_1|catenin_alpha_3|_transcript_variant_3;transcript_id=,NM_001127384.2|NM_013266.3|NM_001291133.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CTNNA3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CTNNA3:NM_001127384:exon4:c.G377A:p.R126H,CTNNA3:NM_013266:exon4:c.G377A:p.R126H,CTNNA3:NM_001291133:exon5:c.G413A:p.R138H;cytoBand=10q21.3;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs730880071;Kaviar_AF=3.23e-05;Kaviar_AC=5;Kaviar_AN=154602;ExAC_ALL=4.137e-05;ExAC_AFR=0.0002;ExAC_AMR=8.712e-05;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=3.01e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=178622;CLNDN=Long_QT_syndrome;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Uncertain_significance;SIFT_score=0.001;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.997;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=2.18;MutationAssessor_pred=M;FATHMM_score=-0.16;FATHMM_pred=T;PROVEAN_score=-4.16;PROVEAN_pred=D;VEST3_score=0.825;CADD_raw=7.336;CADD_phred=34;DANN_score=0.999;fathmm-MKL_coding_score=0.895;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.122;MetaSVM_pred=T;MetaLR_score=0.424;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.18;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.807;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=0.983;SiPhy_29way_logOdds=15.596;GDI_full_10282015=.;dpsi_max_tissue=0.0300;dpsi_zscore=0.196;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM177515#"Cardiomyopathy_dilated";gnomAD_exome_ALL=3.259e-05;gnomAD_exome_AFR=0.0002;gnomAD_exome_AMR=5.967e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=1.801e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=3.25e-05;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=7 GT:DP:CLCAD2 . . . . . . . . 1:64:0,33 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 10 69299372 220770;rs61749224 T G 114.26 . #_unique_end_positions=,10;#_unique_start_positions=,11;AC=2;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0053;AF_ESP_clinvar_20171029_hg19=,0.0177;AF_EXAC_clinvar_20171029_hg19=,0.01741;AF_TGP_clinvar_20171029_hg19=,0.0148;ALLELEID_clinvar_20171029_hg19=,221985;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0115;AN=2;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.14;CAF_dbsnp_common_v150_hg19_refseq=,0.9852|0.01478;CLNDISDB_clinvar_20171029_hg19=,MedGen:C3810138|OMIM:615616;CLNDN_clinvar_20171029_hg19=,Arrhythmogenic_right_ventricular_dysplasia|_familial|_13;CLNHGVS_clinvar_20171029_hg19=,NC_000010.10:g.69299372T>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_single_submitter;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001127384.2:c.348A>C|_NM_001291133.1:c.384A>C|_NM_013266.3:c.348A>C;Coding_region_change_in_longest_transcript=,NM_013266.3:c.348A>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0129;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,18;GENEINFO_dbsnp_common_v150_hg19_refseq=,CTNNA3:29119;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:29119;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:29119;Genotype=,G/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:2511;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:2511;Homo_sapiens_refseq_GRCh37.p13_Genes=,CTNNA3;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001127384.2|NM_013266.3|NM_001291133.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene21387;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna30582|rna30581|rna30583;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:607667;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:607667;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene21387;QUAL=,28.517650711882222;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,69299372;RS_dbsnp_common_v150_hg19_refseq=,61749224;Read_count=,14;Read_coverage=,54;Read_direction_test_probability=,0.6848209846048356;Read_position_test_probability=,0.8700406703041483;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001127384.2|NM_013266.3|NM_001291133.1;Reverse_read_coverage=,36;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0470;SF=4,8;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.984168|0.0158321;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050100000305140036000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.147;db_xref=,GeneID:29119|HGNC:HGNC:2511|MIM:607667;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001127384.2|Genbank:NM_013266.3|Genbank:NM_001291133.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,catenin_alpha_3;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CTNNA3;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,CTNNA3;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARVD13|VR22;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,catenin_alpha_3|_transcript_variant_2|catenin_alpha_3|_transcript_variant_1|catenin_alpha_3|_transcript_variant_3;transcript_id=,NM_001127384.2|NM_013266.3|NM_001291133.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CTNNA3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CTNNA3:NM_001127384:exon4:c.A348C:p.P116P,CTNNA3:NM_013266:exon4:c.A348C:p.P116P,CTNNA3:NM_001291133:exon5:c.A384C:p.P128P;cytoBand=10q21.3;genomicSuperDups=.;esp6500siv2_all=0.0177;esp6500siv2_ea=0.0226;esp6500siv2_all=0.0177;esp6500siv2_ea=0.0226;1000g2015aug_all=0.0147764;avsnp147=rs61749224;Kaviar_AF=0.0173154;Kaviar_AC=2677;Kaviar_AN=154602;ExAC_ALL=0.0174;ExAC_AFR=0.0102;ExAC_AMR=0.0121;ExAC_EAS=0.0002;ExAC_FIN=0.0021;ExAC_NFE=0.0183;ExAC_OTH=0.0221;ExAC_SAS=0.0368;CLNALLELEID=221985;CLNDN=Arrhythmogenic_right_ventricular_dysplasia,_familial,_13;CLNDISDB=MedGen:C3810138,OMIM:615616;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1105;dpsi_zscore=-0.480;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0171;gnomAD_exome_AFR=0.0101;gnomAD_exome_AMR=0.0119;gnomAD_exome_ASJ=0.0130;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0.0028;gnomAD_exome_NFE=0.0199;gnomAD_exome_OTH=0.0267;gnomAD_exome_SAS=0.0357;gnomAD_genome_ALL=0.0124;gnomAD_genome_AFR=0.0097;gnomAD_genome_AMR=0.0119;gnomAD_genome_ASJ=0.0232;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0031;gnomAD_genome_NFE=0.0176;gnomAD_genome_OTH=0.0082;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . 1:49:0,12 . . . 1:52:0,25 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 10 69881335 . C T 200.00 . #_unique_end_positions=,42;#_unique_start_positions=,34;AC=1;AN=1;Amino_acid_change=,NP_115967.2:p.Pro47Leu|_NP_001243196.1:p.Pro47Leu;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;Coding_region_change=,NM_001256267.1:c.140C>T|_NM_001256268.1:c.-983C>T|_NM_032578.3:c.140C>T;Coding_region_change_in_longest_transcript=,NM_001256268.1:c.-983C>T;Forward_read_coverage=,86;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84665;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84665;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:23246;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:23246;Homo_sapiens_refseq_GRCh37.p13_Genes=,MYPN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001256267.1|NM_032578.3|NM_001256268.1|NR_045663.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene21406;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna30603|rna30605|rna30604|rna30606;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608517;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608517;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene21406;QUAL=,200.0;Read_count=,60;Read_coverage=,126;Read_direction_test_probability=,0.6534207689371689;Read_position_test_probability=,0.830879633712964;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001256267.1|NM_032578.3|NM_001256268.1|NR_045663.3;Reverse_read_coverage=,40;SF=37;conservation_score=,0.998;db_xref=,GeneID:84665|HGNC:HGNC:23246|MIM:608517;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001256267.1|Genbank:NM_032578.3|Genbank:NM_001256268.1|Genbank:NR_045663.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,myopalladin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA|misc_RNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MYPN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MYPN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1DD|CMH22|MYOP|RCM4;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,myopalladin|_transcript_variant_4|myopalladin|_transcript_variant_1|myopalladin|_transcript_variant_5|myopalladin|_transcript_variant_3;transcript_id=,NM_001256267.1|NM_032578.3|NM_001256268.1|NR_045663.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA|transcript;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYPN:NM_032578:exon2:c.C140T:p.P47L,MYPN:NM_001256267:exon3:c.C140T:p.P47L;cytoBand=10q21.3;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs777446804;Kaviar_AF=9.06e-05;Kaviar_AC=14;Kaviar_AN=154602;ExAC_ALL=9.075e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0002;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.641;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.079;LRT_pred=N;MutationTaster_score=0.959;MutationTaster_pred=D;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=0.75;FATHMM_pred=T;PROVEAN_score=2.08;PROVEAN_pred=N;VEST3_score=0.135;CADD_raw=0.571;CADD_phred=7.955;DANN_score=0.922;fathmm-MKL_coding_score=0.247;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.010;MetaSVM_pred=T;MetaLR_score=0.070;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=3.88;phyloP7way_vertebrate=-0.122;phyloP20way_mammalian=-0.018;phastCons7way_vertebrate=0.600;phastCons20way_mammalian=0.973;SiPhy_29way_logOdds=9.236;GDI_full_10282015=.;dpsi_max_tissue=0.0293;dpsi_zscore=0.193;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=6.096e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0001;gnomAD_exome_OTH=0;gnomAD_exome_SAS=3.25e-05;gnomAD_genome_ALL=6.458e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0001;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:120:0,58 . . . . 10 69908157 31793;rs11596653 T C 175.75 . #_unique_end_positions=,20;#_unique_start_positions=,20;AC=3;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4077;AF_ESP_clinvar_20171029_hg19=,0.1223;AF_EXAC_clinvar_20171029_hg19=,0.04524;AF_TGP_clinvar_20171029_hg19=,0.1206;ALLELEID_clinvar_20171029_hg19=,40453;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0490;AN=3;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001243196.1:p.Val393Ala|_NP_115967.2:p.Val393Ala|_NP_001243197.1:p.Val99Ala;Amino_acid_change_in_longest_transcript=,NP_001243197.1:p.Val99Ala;BaseQRankSum=,0.21;CAF_dbsnp_common_v150_hg19_refseq=,0.8794|0.1206;CLNDISDB_clinvar_20171029_hg19=,MedGen:C3714995|OMIM:615248|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNDN_clinvar_20171029_hg19=,Dilated_cardiomyopathy_1KK|not_specified|Cardiovascular_phenotype|not_provided;CLNHGVS_clinvar_20171029_hg19=,NC_000010.10:g.69908157T>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Leiden_Muscular_Dystrophy_pages_(MYPN):MYPN_00005|UniProtKB_(protein):Q86TC9#VAR_049911;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256267.1:c.1178T>C|_NM_001256268.1:c.296T>C|_NM_032578.3:c.1178T>C;Coding_region_change_in_longest_transcript=,NM_001256268.1:c.296T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0159;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,34;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,MYPN:84665;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84665;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84665;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:23246;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:23246;Homo_sapiens_refseq_GRCh37.p13_Genes=,MYPN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001256267.1|NR_045662.3|NM_032578.3|NM_001256268.1|NR_045663.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene21406;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna30603|rna30602|rna30605|rna30604|rna30606;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608517;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608517;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene21406;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,69908157;RS_dbsnp_common_v150_hg19_refseq=,11596653;Read_count=,28;Read_coverage=,62;Read_direction_test_probability=,0.9040379254546755;Read_position_test_probability=,0.9419011135968876;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001256267.1|NR_045662.3|NM_032578.3|NM_001256268.1|NR_045663.3;Reverse_read_coverage=,28;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0153;SF=12,22,37;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.846246|0.153754;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050368000a05150537100100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.357143;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.00833333;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.00568182;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.511236;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.04;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.353147;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.0284091;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.408333;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:84665|HGNC:HGNC:23246|MIM:608517;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001256267.1|Genbank:NR_045662.3|Genbank:NM_032578.3|Genbank:NM_001256268.1|Genbank:NR_045663.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,myopalladin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA|misc_RNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MYPN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MYPN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1DD|CMH22|MYOP|RCM4;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,myopalladin|_transcript_variant_4|myopalladin|_transcript_variant_2|myopalladin|_transcript_variant_1|myopalladin|_transcript_variant_5|myopalladin|_transcript_variant_3;transcript_id=,NM_001256267.1|NR_045662.3|NM_032578.3|NM_001256268.1|NR_045663.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA|transcript;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYPN:NM_032578:exon5:c.T1178C:p.V393A,MYPN:NM_001256267:exon6:c.T1178C:p.V393A,MYPN:NM_001256268:exon9:c.T296C:p.V99A;cytoBand=10q21.3;genomicSuperDups=.;esp6500siv2_all=0.1223;esp6500siv2_ea=0.0147;esp6500siv2_all=0.1223;esp6500siv2_ea=0.0147;1000g2015aug_all=0.120607;avsnp147=rs11596653;Kaviar_AF=0.043861;Kaviar_AC=6781;Kaviar_AN=154602;ExAC_ALL=0.0452;ExAC_AFR=0.3316;ExAC_AMR=0.0271;ExAC_EAS=0;ExAC_FIN=0.0101;ExAC_NFE=0.0155;ExAC_OTH=0.0430;ExAC_SAS=0.0355;CLNALLELEID=40453;CLNDN=Dilated_cardiomyopathy_1KK|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C3714995,OMIM:615248|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.687;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.140;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-0.69;MutationAssessor_pred=N;FATHMM_score=0.58;FATHMM_pred=T;PROVEAN_score=0.33;PROVEAN_pred=N;VEST3_score=0.043;CADD_raw=0.535;CADD_phred=7.694;DANN_score=0.926;fathmm-MKL_coding_score=0.046;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.932;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.581;integrated_confidence_value=0;GERP++_RS=2.55;phyloP7way_vertebrate=-0.422;phyloP20way_mammalian=0.069;phastCons7way_vertebrate=0.492;phastCons20way_mammalian=0.997;SiPhy_29way_logOdds=5.811;GDI_full_10282015=.;dpsi_max_tissue=3.4990;dpsi_zscore=2.337;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0383;gnomAD_exome_AFR=0.3355;gnomAD_exome_AMR=0.0258;gnomAD_exome_ASJ=0.0096;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0.0126;gnomAD_exome_NFE=0.0160;gnomAD_exome_OTH=0.0337;gnomAD_exome_SAS=0.0354;gnomAD_genome_ALL=0.1036;gnomAD_genome_AFR=0.3238;gnomAD_genome_AMR=0.0274;gnomAD_genome_ASJ=0.0099;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0169;gnomAD_genome_NFE=0.0178;gnomAD_genome_OTH=0.0346;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-10 GT:DP:CLCAD2 . . . . . . . . . . . . 1:56:0,26 . . . . . . . . . 1:84:0,42 . . . . . . . . . . . . . . 1:46:0,27 . . . . 10 69908205 241706;rs200352249 G A 200.00 . #_unique_end_positions=,24;#_unique_start_positions=,22;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0015;AF_EXAC_clinvar_20171029_hg19=,0.00003;AF_TGP_clinvar_20171029_hg19=,0.0004;ALLELEID_clinvar_20171029_hg19=,240834;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001243196.1:p.Arg409His|_NP_115967.2:p.Arg409His|_NP_001243197.1:p.Arg115His;Amino_acid_change_in_longest_transcript=,NP_001243197.1:p.Arg115His;BaseQRankSum=,-0.93;CAF_dbsnp_common_v150_hg19_refseq=,0.9996|0.0003994;CLNDISDB_clinvar_20171029_hg19=,MedGen:C3714995|OMIM:615248;CLNDN_clinvar_20171029_hg19=,Dilated_cardiomyopathy_1KK;CLNHGVS_clinvar_20171029_hg19=,NC_000010.10:g.69908205G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_single_submitter;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256267.1:c.1226G>A|_NM_001256268.1:c.344G>A|_NM_032578.3:c.1226G>A;Coding_region_change_in_longest_transcript=,NM_001256268.1:c.344G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,38;GENEINFO_dbsnp_common_v150_hg19_refseq=,MYPN:84665;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84665;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84665;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:23246;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:23246;Homo_sapiens_refseq_GRCh37.p13_Genes=,MYPN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001256267.1|NR_045662.3|NM_032578.3|NM_001256268.1|NR_045663.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene21406;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna30603|rna30602|rna30605|rna30604|rna30606;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608517;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608517;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene21406;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,69908205;RS_dbsnp_common_v150_hg19_refseq=,200352249;Read_count=,35;Read_coverage=,75;Read_direction_test_probability=,0.9999875950291599;Read_position_test_probability=,0.595004808689555;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001256267.1|NR_045662.3|NM_032578.3|NM_001256268.1|NR_045663.3;Reverse_read_coverage=,37;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=16;SSR_dbsnp_common_v150_hg19_refseq=,0;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050000000a05040036000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.342;db_xref=,GeneID:84665|HGNC:HGNC:23246|MIM:608517;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001256267.1|Genbank:NR_045662.3|Genbank:NM_032578.3|Genbank:NM_001256268.1|Genbank:NR_045663.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,myopalladin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA|misc_RNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MYPN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MYPN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1DD|CMH22|MYOP|RCM4;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,myopalladin|_transcript_variant_4|myopalladin|_transcript_variant_2|myopalladin|_transcript_variant_1|myopalladin|_transcript_variant_5|myopalladin|_transcript_variant_3;transcript_id=,NM_001256267.1|NR_045662.3|NM_032578.3|NM_001256268.1|NR_045663.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA|transcript;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYPN:NM_032578:exon5:c.G1226A:p.R409H,MYPN:NM_001256267:exon6:c.G1226A:p.R409H,MYPN:NM_001256268:exon9:c.G344A:p.R115H;cytoBand=10q21.3;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.000399361;avsnp147=rs200352249;Kaviar_AF=3.88e-05;Kaviar_AC=6;Kaviar_AN=154602;ExAC_ALL=3.296e-05;ExAC_AFR=0.0002;ExAC_AMR=8.654e-05;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.499e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=240834;CLNDN=Dilated_cardiomyopathy_1KK;CLNDISDB=MedGen:C3714995,OMIM:615248;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.209;SIFT_pred=T;Polyphen2_HDIV_score=0.352;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.091;Polyphen2_HVAR_pred=B;LRT_score=0.421;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0.69;MutationAssessor_pred=N;FATHMM_score=0.48;FATHMM_pred=T;PROVEAN_score=-0.07;PROVEAN_pred=N;VEST3_score=0.204;CADD_raw=1.661;CADD_phred=14.19;DANN_score=0.969;fathmm-MKL_coding_score=0.045;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.984;MetaSVM_pred=T;MetaLR_score=0.106;MetaLR_pred=T;integrated_fitCons_score=0.526;integrated_confidence_value=0;GERP++_RS=1.42;phyloP7way_vertebrate=-0.045;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.023;phastCons20way_mammalian=0.894;SiPhy_29way_logOdds=3.622;GDI_full_10282015=.;dpsi_max_tissue=-3.6873;dpsi_zscore=-2.291;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=2.438e-05;gnomAD_exome_AFR=0.0001;gnomAD_exome_AMR=5.957e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=1.792e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . 1:57:0,28 . . . . . . . . . . . . . . . . . . . . . . . . . 10 69909802 31794;rs10997948 G A 115.01 . #_unique_end_positions=,12;#_unique_start_positions=,11;AC=5;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1717;AF_ESP_clinvar_20171029_hg19=,0.1086;AF_EXAC_clinvar_20171029_hg19=,0.08446;AF_TGP_clinvar_20171029_hg19=,0.0843;ALLELEID_clinvar_20171029_hg19=,40454;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0706;AN=5;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.9157|0.08427;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNDN_clinvar_20171029_hg19=,not_specified|Cardiovascular_phenotype|not_provided;CLNHGVS_clinvar_20171029_hg19=,NC_000010.10:g.69909802G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Leiden_Muscular_Dystrophy_pages_(MYPN):MYPN_00006;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256267.1:c.1251G>A|_NM_001256268.1:c.369G>A|_NM_032578.3:c.1251G>A;Coding_region_change_in_longest_transcript=,NM_001256268.1:c.369G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0020;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0686;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,27;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,MYPN:84665;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84665;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84665;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:23246;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:23246;Homo_sapiens_refseq_GRCh37.p13_Genes=,MYPN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001256267.1|NR_045662.3|NM_032578.3|NM_001256268.1|NR_045663.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene21406;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna30603|rna30602|rna30605|rna30604|rna30606;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608517;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608517;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene21406;QUAL=,89.10066707723318;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,69909802;RS_dbsnp_common_v150_hg19_refseq=,10997948;Read_count=,14;Read_coverage=,38;Read_direction_test_probability=,0.7036556574574219;Read_position_test_probability=,0.8896828052236826;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001256267.1|NR_045662.3|NM_032578.3|NM_001256268.1|NR_045663.3;Reverse_read_coverage=,11;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0767;SF=1,12,22,27,37;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.882925|0.117075;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050168000305150537100100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.153061;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0583333;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.0117647;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.0454545;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.144444;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.0612245;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.146853;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.0681818;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.175;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:84665|HGNC:HGNC:23246|MIM:608517;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001256267.1|Genbank:NR_045662.3|Genbank:NM_032578.3|Genbank:NM_001256268.1|Genbank:NR_045663.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,myopalladin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA|misc_RNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MYPN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MYPN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1DD|CMH22|MYOP|RCM4;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,myopalladin|_transcript_variant_4|myopalladin|_transcript_variant_2|myopalladin|_transcript_variant_1|myopalladin|_transcript_variant_5|myopalladin|_transcript_variant_3;transcript_id=,NM_001256267.1|NR_045662.3|NM_032578.3|NM_001256268.1|NR_045663.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA|transcript;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYPN:NM_032578:exon6:c.G1251A:p.Q417Q,MYPN:NM_001256267:exon7:c.G1251A:p.Q417Q,MYPN:NM_001256268:exon10:c.G369A:p.Q123Q;cytoBand=10q21.3;genomicSuperDups=.;esp6500siv2_all=0.1086;esp6500siv2_ea=0.0826;esp6500siv2_all=0.1086;esp6500siv2_ea=0.0826;1000g2015aug_all=0.0842652;avsnp147=rs10997948;Kaviar_AF=0.0840093;Kaviar_AC=12988;Kaviar_AN=154602;ExAC_ALL=0.0845;ExAC_AFR=0.1533;ExAC_AMR=0.0483;ExAC_EAS=0.0070;ExAC_FIN=0.0501;ExAC_NFE=0.0880;ExAC_OTH=0.1002;ExAC_SAS=0.1054;CLNALLELEID=40454;CLNDN=not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=4.8419;dpsi_zscore=2.563;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0808;gnomAD_exome_AFR=0.1565;gnomAD_exome_AMR=0.0470;gnomAD_exome_ASJ=0.1287;gnomAD_exome_EAS=0.0075;gnomAD_exome_FIN=0.0579;gnomAD_exome_NFE=0.0854;gnomAD_exome_OTH=0.0851;gnomAD_exome_SAS=0.1051;gnomAD_genome_ALL=0.0939;gnomAD_genome_AFR=0.1547;gnomAD_genome_AMR=0.0537;gnomAD_genome_ASJ=0.0927;gnomAD_genome_EAS=0.0099;gnomAD_genome_FIN=0.0611;gnomAD_genome_NFE=0.0795;gnomAD_genome_OTH=0.0631;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . 1:32:0,13 . . . . . . . . . . 1:38:0,18 . . . . . . . . . 1:39:0,19 . . . . 1:40:0,18 . . . . . . . . . 1:25:0,15 . . . . 10 69926097 31795;rs2673794 T C 189.75 . #_unique_end_positions=,35;#_unique_start_positions=,35;AC=58;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2769;AF_TGP_clinvar_20171029_hg19=,0.4826;ALLELEID_clinvar_20171029_hg19=,40455;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6844;AN=58;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.66;CAF_dbsnp_common_v150_hg19_refseq=,0.5174|0.4826;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNDN_clinvar_20171029_hg19=,not_specified|Cardiovascular_phenotype|not_provided;CLNHGVS_clinvar_20171029_hg19=,NC_000010.10:g.69926097T>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Leiden_Muscular_Dystrophy_pages_(MYPN):MYPN_00007;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256267.1:c.1647T>C|_NM_001256268.1:c.765T>C|_NM_032578.3:c.1647T>C;Coding_region_change_in_longest_transcript=,NM_001256268.1:c.765T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3125;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6859;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,83;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,MYPN:84665;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84665;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84665;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:23246;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:23246;Homo_sapiens_refseq_GRCh37.p13_Genes=,MYPN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001256267.1|NR_045662.3|NM_032578.3|NM_001256268.1|NR_045663.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene21406;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna30603|rna30602|rna30605|rna30604|rna30606;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608517;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608517;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene21406;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,69926097;RS_dbsnp_common_v150_hg19_refseq=,2673794;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,62;Read_coverage=,132;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.8666810440536281;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001256267.1|NR_045662.3|NM_032578.3|NM_001256268.1|NR_045663.3;Reverse_read_coverage=,49;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5838;SF=0,1,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,22,23,24,25,26,27,28,29,31,32,33,34,35,36,37,38,40;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.480459|0.519541;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05016800030517053f100100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.326531;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.681416;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.304878;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.297619;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.556818;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.244186;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.423529;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.222222;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.622449;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.325175;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.637931;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.287611;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.927;db_xref=,GeneID:84665|HGNC:HGNC:23246|MIM:608517;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001256267.1|Genbank:NR_045662.3|Genbank:NM_032578.3|Genbank:NM_001256268.1|Genbank:NR_045663.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,myopalladin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA|misc_RNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MYPN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MYPN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1DD|CMH22|MYOP|RCM4;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,myopalladin|_transcript_variant_4|myopalladin|_transcript_variant_2|myopalladin|_transcript_variant_1|myopalladin|_transcript_variant_5|myopalladin|_transcript_variant_3;transcript_id=,NM_001256267.1|NR_045662.3|NM_032578.3|NM_001256268.1|NR_045663.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA|transcript;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYPN:NM_032578:exon10:c.T1647C:p.S549S,MYPN:NM_001256267:exon11:c.T1647C:p.S549S,MYPN:NM_001256268:exon14:c.T765C:p.S255S;cytoBand=10q21.3;genomicSuperDups=.;esp6500siv2_all=0.5787;esp6500siv2_ea=0.6960;esp6500siv2_all=0.5787;esp6500siv2_ea=0.6960;1000g2015aug_all=0.482628;avsnp147=rs2673794;Kaviar_AF=0.621331;Kaviar_AC=96059;Kaviar_AN=154602;ExAC_ALL=0.6227;ExAC_AFR=0.3416;ExAC_AMR=0.6872;ExAC_EAS=0.2886;ExAC_FIN=0.7417;ExAC_NFE=0.6868;ExAC_OTH=0.6564;ExAC_SAS=0.6200;CLNALLELEID=40455;CLNDN=not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0781;dpsi_zscore=-0.378;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.6326;gnomAD_exome_AFR=0.3410;gnomAD_exome_AMR=0.6827;gnomAD_exome_ASJ=0.6361;gnomAD_exome_EAS=0.2873;gnomAD_exome_FIN=0.7398;gnomAD_exome_NFE=0.6904;gnomAD_exome_OTH=0.6410;gnomAD_exome_SAS=0.6264;gnomAD_genome_ALL=0.5867;gnomAD_genome_AFR=0.3464;gnomAD_genome_AMR=0.6480;gnomAD_genome_ASJ=0.6733;gnomAD_genome_EAS=0.2834;gnomAD_genome_FIN=0.7457;gnomAD_genome_NFE=0.7102;gnomAD_genome_OTH=0.6878;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:105:0,51 1:170:0,77 . 1:166:0,83 1/1:139:0,139 1/1:163:0,163 1/1:124:0,124 1/1:110:0,110 1/1:134:0,134 1/1:160:0,160 1/1:193:0,193 1:138:0,69 1:147:0,65 1:144:0,69 1/1:228:0,228 1/1:137:0,137 1/1:207:0,207 1:151:0,86 1/1:137:0,137 1/1:138:0,138 1/1:134:0,134 . 1:196:0,93 1/1:179:0,179 1/1:170:0,170 1:123:0,56 1:131:0,56 1:198:0,83 1:197:0,83 1/1:176:0,176 . 1:101:0,46 1/1:146:0,146 1/1:113:0,113 1:168:0,91 1/1:150:0,150 1:135:0,75 1/1:121:0,121 1/1:120:0,120 . 1:161:0,78 . 10 69926319 31803;rs61854624 C A 200.00 . #_unique_end_positions=,46;#_unique_start_positions=,37;AC=11;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0091;AF_ESP_clinvar_20171029_hg19=,0.1261;AF_EXAC_clinvar_20171029_hg19=,0.15649;AF_TGP_clinvar_20171029_hg19=,0.1166;ALLELEID_clinvar_20171029_hg19=,40463;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2622;AN=11;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.55;CAF_dbsnp_common_v150_hg19_refseq=,0.8834|0.1166|.;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNDN_clinvar_20171029_hg19=,not_specified|Cardiovascular_phenotype|not_provided;CLNHGVS_clinvar_20171029_hg19=,NC_000010.10:g.69926319C>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Leiden_Muscular_Dystrophy_pages_(MYPN):MYPN_00015;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256267.1:c.1869C>A|_NM_001256268.1:c.987C>A|_NM_032578.3:c.1869C>A;Coding_region_change_in_longest_transcript=,NM_001256268.1:c.987C>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0962;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1640;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,62;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,MYPN:84665;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84665;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84665;Genotype=,A/C;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:23246;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:23246;Homo_sapiens_refseq_GRCh37.p13_Genes=,MYPN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001256267.1|NR_045662.3|NM_032578.3|NM_001256268.1|NR_045663.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene21406;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna30603|rna30602|rna30605|rna30604|rna30606;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608517;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608517;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene21406;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,69926319;RS_dbsnp_common_v150_hg19_refseq=,61854624;Read_count=,68;Read_coverage=,167;Read_direction_test_probability=,0.9052238216297748;Read_position_test_probability=,0.9629252800337491;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001256267.1|NR_045662.3|NM_032578.3|NM_001256268.1|NR_045663.3;Reverse_read_coverage=,105;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1309;SF=1,6,9,16,20,24,25,29,34,35,40;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.899409|0.100591|.;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050168000305150536100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.421;db_xref=,GeneID:84665|HGNC:HGNC:23246|MIM:608517;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001256267.1|Genbank:NR_045662.3|Genbank:NM_032578.3|Genbank:NM_001256268.1|Genbank:NR_045663.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,myopalladin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA|misc_RNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MYPN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MYPN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1DD|CMH22|MYOP|RCM4;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,myopalladin|_transcript_variant_4|myopalladin|_transcript_variant_2|myopalladin|_transcript_variant_1|myopalladin|_transcript_variant_5|myopalladin|_transcript_variant_3;transcript_id=,NM_001256267.1|NR_045662.3|NM_032578.3|NM_001256268.1|NR_045663.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA|transcript;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYPN:NM_032578:exon10:c.C1869A:p.T623T,MYPN:NM_001256267:exon11:c.C1869A:p.T623T,MYPN:NM_001256268:exon14:c.C987A:p.T329T;cytoBand=10q21.3;genomicSuperDups=.;esp6500siv2_all=0.1261;esp6500siv2_ea=0.1735;esp6500siv2_all=0.1261;esp6500siv2_ea=0.1735;1000g2015aug_all=0.116613;avsnp147=rs61854624;Kaviar_AF=0.155037;Kaviar_AC=23969;Kaviar_AN=154602;ExAC_ALL=0.1565;ExAC_AFR=0.0308;ExAC_AMR=0.2479;ExAC_EAS=0.0863;ExAC_FIN=0.1783;ExAC_NFE=0.1679;ExAC_OTH=0.1645;ExAC_SAS=0.1530;CLNALLELEID=40463;CLNDN=not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0376;dpsi_zscore=0.238;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1658;gnomAD_exome_AFR=0.0280;gnomAD_exome_AMR=0.2391;gnomAD_exome_ASJ=0.2918;gnomAD_exome_EAS=0.0915;gnomAD_exome_FIN=0.1850;gnomAD_exome_NFE=0.1614;gnomAD_exome_OTH=0.1718;gnomAD_exome_SAS=0.1571;gnomAD_genome_ALL=0.1264;gnomAD_genome_AFR=0.0286;gnomAD_genome_AMR=0.2124;gnomAD_genome_ASJ=0.3146;gnomAD_genome_EAS=0.0936;gnomAD_genome_FIN=0.1881;gnomAD_genome_NFE=0.1621;gnomAD_genome_OTH=0.1537;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . 1:158:0,64 . . . . 1:100:0,49 . . 1:167:0,75 . . . . . . 1:161:0,81 . . . 1:140:0,63 . . . 1:157:0,76 1:127:0,59 . . . 1:178:0,104 . . . . 1:153:0,76 1:139:0,56 . . . . 1:149:0,70 . 10 69926325 31796;rs2673793 C T 200.00 . #_unique_end_positions=,45;#_unique_start_positions=,38;AC=16;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1362;AF_ESP_clinvar_20171029_hg19=,0.1723;AF_EXAC_clinvar_20171029_hg19=,0.18091;AF_TGP_clinvar_20171029_hg19=,0.1578;ALLELEID_clinvar_20171029_hg19=,40456;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2767;AN=16;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.18;CAF_dbsnp_common_v150_hg19_refseq=,0.8423|.|0.1577;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNDN_clinvar_20171029_hg19=,not_specified|Cardiovascular_phenotype|not_provided;CLNHGVS_clinvar_20171029_hg19=,NC_000010.10:g.69926325C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Leiden_Muscular_Dystrophy_pages_(MYPN):MYPN_00008;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256267.1:c.1875C>T|_NM_001256268.1:c.993C>T|_NM_032578.3:c.1875C>T;Coding_region_change_in_longest_transcript=,NM_001256268.1:c.993C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0962;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1759;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,66;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,MYPN:84665;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84665;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84665;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:23246;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:23246;Homo_sapiens_refseq_GRCh37.p13_Genes=,MYPN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001256267.1|NR_045662.3|NM_032578.3|NM_001256268.1|NR_045663.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene21406;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna30603|rna30602|rna30605|rna30604|rna30606;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608517;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608517;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene21406;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,69926325;RS_dbsnp_common_v150_hg19_refseq=,2673793;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,68;Read_coverage=,156;Read_direction_test_probability=,0.890708170956023;Read_position_test_probability=,0.7245305727634954;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001256267.1|NR_045662.3|NM_032578.3|NM_001256268.1|NR_045663.3;Reverse_read_coverage=,90;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1472;SF=1,6,8,9,12,16,20,22,24,25,29,32,34,35,37,40;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.837317|.|0.162683;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050168000305170136100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.002;db_xref=,GeneID:84665|HGNC:HGNC:23246|MIM:608517;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001256267.1|Genbank:NR_045662.3|Genbank:NM_032578.3|Genbank:NM_001256268.1|Genbank:NR_045663.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,myopalladin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA|misc_RNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MYPN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MYPN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1DD|CMH22|MYOP|RCM4;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,myopalladin|_transcript_variant_4|myopalladin|_transcript_variant_2|myopalladin|_transcript_variant_1|myopalladin|_transcript_variant_5|myopalladin|_transcript_variant_3;transcript_id=,NM_001256267.1|NR_045662.3|NM_032578.3|NM_001256268.1|NR_045663.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA|transcript;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYPN:NM_032578:exon10:c.C1875T:p.P625P,MYPN:NM_001256267:exon11:c.C1875T:p.P625P,MYPN:NM_001256268:exon14:c.C993T:p.P331P;cytoBand=10q21.3;genomicSuperDups=.;esp6500siv2_all=0.1723;esp6500siv2_ea=0.1866;esp6500siv2_all=0.1723;esp6500siv2_ea=0.1866;1000g2015aug_all=0.157748;avsnp147=rs2673793;Kaviar_AF=0.176531;Kaviar_AC=27292;Kaviar_AN=154602;ExAC_ALL=0.1809;ExAC_AFR=0.1501;ExAC_AMR=0.2590;ExAC_EAS=0.0864;ExAC_FIN=0.1873;ExAC_NFE=0.1823;ExAC_OTH=0.1965;ExAC_SAS=0.1859;CLNALLELEID=40456;CLNDN=not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0469;dpsi_zscore=-0.251;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1883;gnomAD_exome_AFR=0.1544;gnomAD_exome_AMR=0.2507;gnomAD_exome_ASJ=0.3101;gnomAD_exome_EAS=0.0917;gnomAD_exome_FIN=0.1964;gnomAD_exome_NFE=0.1760;gnomAD_exome_OTH=0.1904;gnomAD_exome_SAS=0.1900;gnomAD_genome_ALL=0.1727;gnomAD_genome_AFR=0.1541;gnomAD_genome_AMR=0.2243;gnomAD_genome_ASJ=0.3233;gnomAD_genome_EAS=0.0932;gnomAD_genome_FIN=0.2033;gnomAD_genome_NFE=0.1790;gnomAD_genome_OTH=0.1732;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . 1:147:0,64 . . . . 1:97:0,49 . 1:116:0,60 1:146:0,65 . . 1:135:0,62 . . . 1:155:0,80 . . . 1:134:0,56 . 1:170:0,79 . 1:146:0,69 1:108:0,52 . . . 1:150:0,91 . . 1:129:0,55 . 1:145:0,73 1:132:0,58 . 1:107:0,51 . . 1:134:0,61 . 10 69926334 31804;rs10823148 C G 196.09 . #_unique_end_positions=,40;#_unique_start_positions=,35;AC=42;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1104;AF_ESP_clinvar_20171029_hg19=,0.3960;AF_EXAC_clinvar_20171029_hg19=,0.43825;AF_TGP_clinvar_20171029_hg19=,0.3165;ALLELEID_clinvar_20171029_hg19=,40464;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4049;AN=42;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001243197.1:p.Phe334Leu|_NP_115967.2:p.Phe628Leu|_NP_001243196.1:p.Phe628Leu;Amino_acid_change_in_longest_transcript=,NP_001243197.1:p.Phe334Leu;BaseQRankSum=,0.34;CAF_dbsnp_common_v150_hg19_refseq=,0.6835|0.3165;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNDN_clinvar_20171029_hg19=,not_specified|Cardiovascular_phenotype|not_provided;CLNHGVS_clinvar_20171029_hg19=,NC_000010.10:g.69926334C>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Leiden_Muscular_Dystrophy_pages_(MYPN):MYPN_00016|UniProtKB_(protein):Q86TC9#VAR_049912;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256267.1:c.1884C>G|_NM_001256268.1:c.1002C>G|_NM_032578.3:c.1884C>G;Coding_region_change_in_longest_transcript=,NM_001256268.1:c.1002C>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2163;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5099;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,52;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,MYPN:84665;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84665;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84665;Genotype=,C/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:23246;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:23246;Homo_sapiens_refseq_GRCh37.p13_Genes=,MYPN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001256267.1|NR_045662.3|NM_032578.3|NM_001256268.1|NR_045663.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene21406;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna30603|rna30602|rna30605|rna30604|rna30606;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608517;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608517;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene21406;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,69926334;RS_dbsnp_common_v150_hg19_refseq=,10823148;Read_count=,62;Read_coverage=,120;Read_direction_test_probability=,0.990102585710858;Read_position_test_probability=,0.9756558986214661;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001256267.1|NR_045662.3|NM_032578.3|NM_001256268.1|NR_045663.3;Reverse_read_coverage=,68;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4366;SF=0,3,4,5,6,7,8,9,10,11,13,14,15,16,17,18,19,20,23,24,26,27,28,29,31,32,33,35,36,37,38;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.65657|0.34343;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050168000a0517053f100100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.653846;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.130952;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.333333;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0762712;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.994;db_xref=,GeneID:84665|HGNC:HGNC:23246|MIM:608517;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001256267.1|Genbank:NR_045662.3|Genbank:NM_032578.3|Genbank:NM_001256268.1|Genbank:NR_045663.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,myopalladin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA|misc_RNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MYPN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MYPN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1DD|CMH22|MYOP|RCM4;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,myopalladin|_transcript_variant_4|myopalladin|_transcript_variant_2|myopalladin|_transcript_variant_1|myopalladin|_transcript_variant_5|myopalladin|_transcript_variant_3;transcript_id=,NM_001256267.1|NR_045662.3|NM_032578.3|NM_001256268.1|NR_045663.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA|transcript;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYPN:NM_032578:exon10:c.C1884G:p.F628L,MYPN:NM_001256267:exon11:c.C1884G:p.F628L,MYPN:NM_001256268:exon14:c.C1002G:p.F334L;cytoBand=10q21.3;genomicSuperDups=.;esp6500siv2_all=0.3960;esp6500siv2_ea=0.5095;esp6500siv2_all=0.3960;esp6500siv2_ea=0.5095;1000g2015aug_all=0.316494;avsnp147=rs10823148;Kaviar_AF=0.435596;Kaviar_AC=67344;Kaviar_AN=154602;ExAC_ALL=0.4383;ExAC_AFR=0.1622;ExAC_AMR=0.4237;ExAC_EAS=0.2010;ExAC_FIN=0.5534;ExAC_NFE=0.5038;ExAC_OTH=0.4623;ExAC_SAS=0.4339;CLNALLELEID=40464;CLNDN=not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.635;SIFT_pred=T;Polyphen2_HDIV_score=0.005;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.009;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.121;MutationTaster_pred=P;MutationAssessor_score=0.69;MutationAssessor_pred=N;FATHMM_score=0.57;FATHMM_pred=T;PROVEAN_score=-0.33;PROVEAN_pred=N;VEST3_score=0.218;CADD_raw=0.756;CADD_phred=9.186;DANN_score=0.646;fathmm-MKL_coding_score=0.861;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.929;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=4.3;phyloP7way_vertebrate=-0.058;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.079;phastCons20way_mammalian=0.595;SiPhy_29way_logOdds=7.614;GDI_full_10282015=.;dpsi_max_tissue=0.0090;dpsi_zscore=0.061;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.4418;gnomAD_exome_AFR=0.1565;gnomAD_exome_AMR=0.4300;gnomAD_exome_ASJ=0.3260;gnomAD_exome_EAS=0.1949;gnomAD_exome_FIN=0.5430;gnomAD_exome_NFE=0.5137;gnomAD_exome_OTH=0.4498;gnomAD_exome_SAS=0.4363;gnomAD_genome_ALL=0.4048;gnomAD_genome_AFR=0.1619;gnomAD_genome_AMR=0.4199;gnomAD_genome_ASJ=0.3444;gnomAD_genome_EAS=0.1897;gnomAD_genome_FIN=0.5426;gnomAD_genome_NFE=0.5306;gnomAD_genome_OTH=0.5122;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:101:0,50 . . 1:131:0,62 1/1:92:0,92 1/1:123:0,123 1:95:0,46 1/1:107:0,107 1:116:0,55 1:136:0,75 1/1:183:0,183 1:117:0,53 . 1:113:0,59 1/1:197:0,197 1/1:140:0,140 1:150:0,74 1:140:0,71 1/1:116:0,116 1/1:110:0,110 1:129:0,80 . . 1/1:156:0,156 1:137:0,73 . 1:111:0,65 1:187:0,88 1:181:0,88 1:150:0,60 . 1:98:0,58 1:121:0,67 1/1:99:0,99 . 1:138:0,77 1:132:0,70 1:104:0,56 1/1:85:0,85 . . . 10 69926360 . C T 200.00 . #_unique_end_positions=,48;#_unique_start_positions=,49;AC=1;AN=1;Amino_acid_change=,NP_115967.2:p.Thr637Ile|_NP_001243196.1:p.Thr637Ile|_NP_001243197.1:p.Thr343Ile;Amino_acid_change_in_longest_transcript=,NP_001243197.1:p.Thr343Ile;BaseQRankSum=,-0.16;Coding_region_change=,NM_001256267.1:c.1910C>T|_NM_001256268.1:c.1028C>T|_NM_032578.3:c.1910C>T;Coding_region_change_in_longest_transcript=,NM_001256268.1:c.1028C>T;Forward_read_coverage=,65;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84665;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84665;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:23246;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:23246;Homo_sapiens_refseq_GRCh37.p13_Genes=,MYPN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001256267.1|NR_045662.3|NM_032578.3|NM_001256268.1|NR_045663.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene21406;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna30603|rna30602|rna30605|rna30604|rna30606;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608517;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608517;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene21406;QUAL=,200.0;Read_count=,85;Read_coverage=,180;Read_direction_test_probability=,0.8706048897729355;Read_position_test_probability=,0.8607790215716852;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001256267.1|NR_045662.3|NM_032578.3|NM_001256268.1|NR_045663.3;Reverse_read_coverage=,115;SF=10;conservation_score=,0.989;db_xref=,GeneID:84665|HGNC:HGNC:23246|MIM:608517;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001256267.1|Genbank:NR_045662.3|Genbank:NM_032578.3|Genbank:NM_001256268.1|Genbank:NR_045663.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,myopalladin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA|misc_RNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MYPN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MYPN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1DD|CMH22|MYOP|RCM4;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,myopalladin|_transcript_variant_4|myopalladin|_transcript_variant_2|myopalladin|_transcript_variant_1|myopalladin|_transcript_variant_5|myopalladin|_transcript_variant_3;transcript_id=,NM_001256267.1|NR_045662.3|NM_032578.3|NM_001256268.1|NR_045663.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA|transcript;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYPN:NM_032578:exon10:c.C1910T:p.T637I,MYPN:NM_001256267:exon11:c.C1910T:p.T637I,MYPN:NM_001256268:exon14:c.C1028T:p.T343I;cytoBand=10q21.3;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.4;SIFT_pred=T;Polyphen2_HDIV_score=0.003;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.006;Polyphen2_HVAR_pred=B;LRT_score=0.031;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=N;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=0.45;FATHMM_pred=T;PROVEAN_score=-0.9;PROVEAN_pred=N;VEST3_score=0.108;CADD_raw=1.044;CADD_phred=10.91;DANN_score=0.818;fathmm-MKL_coding_score=0.531;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.058;MetaSVM_pred=T;MetaLR_score=0.071;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=5.29;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.779;phastCons20way_mammalian=0.076;SiPhy_29way_logOdds=8.145;GDI_full_10282015=.;dpsi_max_tissue=0.0241;dpsi_zscore=0.162;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.064e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=8.961e-06;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . . . 1:159:0,77 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 10 69933921 31797;rs10997975 G A 192.48 . #_unique_end_positions=,44;#_unique_start_positions=,40;AC=40;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1762;AF_ESP_clinvar_20171029_hg19=,0.3924;AF_EXAC_clinvar_20171029_hg19=,0.43077;AF_TGP_clinvar_20171029_hg19=,0.3359;ALLELEID_clinvar_20171029_hg19=,40457;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4035;AN=40;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_115967.2:p.Ser691Asn|_NP_001243196.1:p.Ser691Asn|_NP_001243197.1:p.Ser397Asn;Amino_acid_change_in_longest_transcript=,NP_001243197.1:p.Ser397Asn;BaseQRankSum=,-0.83;CAF_dbsnp_common_v150_hg19_refseq=,0.6641|0.3359|.;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNDN_clinvar_20171029_hg19=,not_specified|Cardiovascular_phenotype|not_provided;CLNHGVS_clinvar_20171029_hg19=,NC_000010.10:g.69933921G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Leiden_Muscular_Dystrophy_pages_(MYPN):MYPN_00009|UniProtKB_(protein):Q86TC9#VAR_026727;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256267.1:c.2072G>A|_NM_001256268.1:c.1190G>A|_NM_032578.3:c.2072G>A;Coding_region_change_in_longest_transcript=,NM_001256268.1:c.1190G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2649;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4851;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,87;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,MYPN:84665;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84665;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84665;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:23246;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:23246;Homo_sapiens_refseq_GRCh37.p13_Genes=,MYPN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001256267.1|NR_045662.3|NM_032578.3|NM_001256268.1|NR_045663.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene21406;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna30603|rna30602|rna30605|rna30604|rna30606;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608517;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608517;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene21406;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,69933921;RS_dbsnp_common_v150_hg19_refseq=,10997975;Read_count=,60;Read_coverage=,118;Read_direction_test_probability=,0.947431535143816;Read_position_test_probability=,0.8610188799536679;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001256267.1|NR_045662.3|NM_032578.3|NM_001256268.1|NR_045663.3;Reverse_read_coverage=,31;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4233;SF=3,4,5,6,7,8,9,10,11,13,14,15,16,17,18,19,20,23,24,26,27,28,29,31,32,33,35,36,37,38;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.654097|0.345903|.;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050168000a0517053f100101;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.132653;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.575;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.256098;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.241176;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.426136;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.177778;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.422222;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.25;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.45;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.22028;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.426136;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.15;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.353;db_xref=,GeneID:84665|HGNC:HGNC:23246|MIM:608517;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001256267.1|Genbank:NR_045662.3|Genbank:NM_032578.3|Genbank:NM_001256268.1|Genbank:NR_045663.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,myopalladin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA|misc_RNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MYPN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MYPN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1DD|CMH22|MYOP|RCM4;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,myopalladin|_transcript_variant_4|myopalladin|_transcript_variant_2|myopalladin|_transcript_variant_1|myopalladin|_transcript_variant_5|myopalladin|_transcript_variant_3;transcript_id=,NM_001256267.1|NR_045662.3|NM_032578.3|NM_001256268.1|NR_045663.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA|transcript;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYPN:NM_032578:exon11:c.G2072A:p.S691N,MYPN:NM_001256267:exon12:c.G2072A:p.S691N,MYPN:NM_001256268:exon15:c.G1190A:p.S397N;cytoBand=10q21.3;genomicSuperDups=.;esp6500siv2_all=0.3924;esp6500siv2_ea=0.48;esp6500siv2_all=0.3924;esp6500siv2_ea=0.48;1000g2015aug_all=0.335863;avsnp147=rs10997975;Kaviar_AF=0.431191;Kaviar_AC=66663;Kaviar_AN=154602;ExAC_ALL=0.4308;ExAC_AFR=0.2092;ExAC_AMR=0.4167;ExAC_EAS=0.2586;ExAC_FIN=0.5402;ExAC_NFE=0.4801;ExAC_OTH=0.4559;ExAC_SAS=0.4256;CLNALLELEID=40457;CLNDN=not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.063;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.15;MutationAssessor_pred=N;FATHMM_score=0.42;FATHMM_pred=T;PROVEAN_score=0.46;PROVEAN_pred=N;VEST3_score=0.013;CADD_raw=0.657;CADD_phred=8.543;DANN_score=0.184;fathmm-MKL_coding_score=0.061;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.916;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=3.21;phyloP7way_vertebrate=0.125;phyloP20way_mammalian=0.168;phastCons7way_vertebrate=0.246;phastCons20way_mammalian=0.994;SiPhy_29way_logOdds=8.094;GDI_full_10282015=.;dpsi_max_tissue=0.1676;dpsi_zscore=0.656;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.4329;gnomAD_exome_AFR=0.2047;gnomAD_exome_AMR=0.4185;gnomAD_exome_ASJ=0.3266;gnomAD_exome_EAS=0.2489;gnomAD_exome_FIN=0.5289;gnomAD_exome_NFE=0.4878;gnomAD_exome_OTH=0.4404;gnomAD_exome_SAS=0.4292;gnomAD_genome_ALL=0.4043;gnomAD_genome_AFR=0.2092;gnomAD_genome_AMR=0.4183;gnomAD_genome_ASJ=0.3444;gnomAD_genome_EAS=0.2320;gnomAD_genome_FIN=0.5284;gnomAD_genome_NFE=0.5016;gnomAD_genome_OTH=0.5021;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . 1:107:0,54 1/1:98:0,98 1/1:98:0,98 1:65:0,30 1/1:102:0,102 1:104:0,45 1:95:0,45 1:138:0,63 1:89:0,41 . 1:117:0,55 1/1:153:0,153 1/1:111:0,111 1:123:0,60 1:95:0,39 1/1:81:0,81 1/1:84:0,84 1:87:0,42 . . 1/1:135:0,135 1:104:0,56 . 1:93:0,39 1:128:0,69 1:132:0,68 1:119:0,56 . 1:60:0,20 1:112:0,56 1/1:96:0,96 . 1:102:0,40 1:116:0,55 1:83:0,42 1/1:66:0,66 . . . 10 69933969 31798;rs7916821 G A 193.26 . #_unique_end_positions=,56;#_unique_start_positions=,48;AC=40;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1762;AF_ESP_clinvar_20171029_hg19=,0.3924;AF_EXAC_clinvar_20171029_hg19=,0.42584;AF_TGP_clinvar_20171029_hg19=,0.3251;ALLELEID_clinvar_20171029_hg19=,40458;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4035;AN=40;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001243196.1:p.Ser707Asn|_NP_115967.2:p.Ser707Asn|_NP_001243197.1:p.Ser413Asn;Amino_acid_change_in_longest_transcript=,NP_001243197.1:p.Ser413Asn;BaseQRankSum=,0.18;CAF_dbsnp_common_v150_hg19_refseq=,0.6749|0.3251;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNDN_clinvar_20171029_hg19=,not_specified|Cardiovascular_phenotype|not_provided;CLNHGVS_clinvar_20171029_hg19=,NC_000010.10:g.69933969G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Leiden_Muscular_Dystrophy_pages_(MYPN):MYPN_00010|UniProtKB_(protein):Q86TC9#VAR_026728;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256267.1:c.2120G>A|_NM_001256268.1:c.1238G>A|_NM_032578.3:c.2120G>A;Coding_region_change_in_longest_transcript=,NM_001256268.1:c.1238G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2163;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4851;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,106;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,MYPN:84665;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84665;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84665;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:23246;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:23246;Homo_sapiens_refseq_GRCh37.p13_Genes=,MYPN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001256267.1|NR_045662.3|NM_032578.3|NM_001256268.1|NR_045663.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene21406;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna30603|rna30602|rna30605|rna30604|rna30606;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608517;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608517;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene21406;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,69933969;RS_dbsnp_common_v150_hg19_refseq=,7916821;Read_count=,88;Read_coverage=,164;Read_direction_test_probability=,0.9988938928204294;Read_position_test_probability=,0.9418823263256713;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001256267.1|NR_045662.3|NM_032578.3|NM_001256268.1|NR_045663.3;Reverse_read_coverage=,58;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4182;SF=3,4,5,6,7,8,9,10,11,13,14,15,16,17,18,19,20,23,24,26,27,28,29,31,32,33,35,36,37,38;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.654887|0.345113;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050168000a0517053f100100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.132653;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.526549;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.195122;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.182353;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.414773;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.116279;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.347059;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.266667;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.44;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.225352;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.426136;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.190265;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:84665|HGNC:HGNC:23246|MIM:608517;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001256267.1|Genbank:NR_045662.3|Genbank:NM_032578.3|Genbank:NM_001256268.1|Genbank:NR_045663.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,myopalladin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA|misc_RNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MYPN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MYPN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1DD|CMH22|MYOP|RCM4;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,myopalladin|_transcript_variant_4|myopalladin|_transcript_variant_2|myopalladin|_transcript_variant_1|myopalladin|_transcript_variant_5|myopalladin|_transcript_variant_3;transcript_id=,NM_001256267.1|NR_045662.3|NM_032578.3|NM_001256268.1|NR_045663.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA|transcript;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYPN:NM_032578:exon11:c.G2120A:p.S707N,MYPN:NM_001256267:exon12:c.G2120A:p.S707N,MYPN:NM_001256268:exon15:c.G1238A:p.S413N;cytoBand=10q21.3;genomicSuperDups=.;esp6500siv2_all=0.3924;esp6500siv2_ea=0.4798;esp6500siv2_all=0.3924;esp6500siv2_ea=0.4798;1000g2015aug_all=0.32508;avsnp147=rs7916821;Kaviar_AF=0.422659;Kaviar_AC=65344;Kaviar_AN=154602;ExAC_ALL=0.4258;ExAC_AFR=0.2092;ExAC_AMR=0.4141;ExAC_EAS=0.2041;ExAC_FIN=0.5380;ExAC_NFE=0.4795;ExAC_OTH=0.4515;ExAC_SAS=0.4236;CLNALLELEID=40458;CLNDN=not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.271;SIFT_pred=T;Polyphen2_HDIV_score=0.091;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.068;Polyphen2_HVAR_pred=B;LRT_score=0.088;LRT_pred=N;MutationTaster_score=0.978;MutationTaster_pred=P;MutationAssessor_score=1.1;MutationAssessor_pred=L;FATHMM_score=0.44;FATHMM_pred=T;PROVEAN_score=-0.25;PROVEAN_pred=N;VEST3_score=0.104;CADD_raw=1.882;CADD_phred=15.48;DANN_score=0.987;fathmm-MKL_coding_score=0.397;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.933;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=4.68;phyloP7way_vertebrate=0.630;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.517;phastCons20way_mammalian=0.852;SiPhy_29way_logOdds=8.752;GDI_full_10282015=.;dpsi_max_tissue=0.3193;dpsi_zscore=0.918;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.4283;gnomAD_exome_AFR=0.2043;gnomAD_exome_AMR=0.4160;gnomAD_exome_ASJ=0.3266;gnomAD_exome_EAS=0.1982;gnomAD_exome_FIN=0.5270;gnomAD_exome_NFE=0.4873;gnomAD_exome_OTH=0.4364;gnomAD_exome_SAS=0.4273;gnomAD_genome_ALL=0.4011;gnomAD_genome_AFR=0.2082;gnomAD_genome_AMR=0.4099;gnomAD_genome_ASJ=0.3444;gnomAD_genome_EAS=0.1923;gnomAD_genome_FIN=0.5266;gnomAD_genome_NFE=0.5011;gnomAD_genome_OTH=0.4969;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . 1:142:0,77 1/1:121:0,121 1/1:134:0,134 1:91:0,41 1/1:110:0,110 1:116:0,51 1:116:0,60 1:144:0,70 1:100:0,46 . 1:145:0,66 1/1:168:0,168 1/1:136:0,136 1:137:0,67 1:122:0,57 1/1:109:0,109 1/1:97:0,97 1:116:0,54 . . 1/1:163:0,163 1:141:0,70 . 1:116:0,54 1:158:0,75 1:152:0,68 1:150:0,79 . 1:72:0,30 1:125:0,64 1/1:123:0,123 . 1:121:0,56 1:119:0,49 1:90:0,48 1/1:108:0,108 . . . 10 69934012 31806;rs71584491 C A 200.00 . #_unique_end_positions=,48;#_unique_start_positions=,48;AC=4;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1331;AF_ESP_clinvar_20171029_hg19=,0.0434;AF_EXAC_clinvar_20171029_hg19=,0.02384;AF_TGP_clinvar_20171029_hg19=,0.0429;ALLELEID_clinvar_20171029_hg19=,40466;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0173;AN=4;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-1.23;CAF_dbsnp_common_v150_hg19_refseq=,0.9571|0.04293;CLNDISDB_clinvar_20171029_hg19=,MedGen:C3714995|OMIM:615248|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNDN_clinvar_20171029_hg19=,Dilated_cardiomyopathy_1KK|not_specified|Cardiovascular_phenotype|not_provided;CLNHGVS_clinvar_20171029_hg19=,NC_000010.10:g.69934012C>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Leiden_Muscular_Dystrophy_pages_(MYPN):MYPN_00018;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256267.1:c.2163C>A|_NM_001256268.1:c.1281C>A|_NM_032578.3:c.2163C>A;Coding_region_change_in_longest_transcript=,NM_001256268.1:c.1281C>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0109;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,100;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,MYPN:84665;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84665;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84665;Genotype=,A/C;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:23246;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:23246;Homo_sapiens_refseq_GRCh37.p13_Genes=,MYPN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001256267.1|NR_045662.3|NM_032578.3|NM_001256268.1|NR_045663.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene21406;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna30603|rna30602|rna30605|rna30604|rna30606;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608517;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608517;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene21406;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,69934012;RS_dbsnp_common_v150_hg19_refseq=,71584491;Read_count=,82;Read_coverage=,186;Read_direction_test_probability=,0.7289391292763208;Read_position_test_probability=,0.8035445596593533;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001256267.1|NR_045662.3|NM_032578.3|NM_001256268.1|NR_045663.3;Reverse_read_coverage=,86;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0164;SF=12,22,32,37;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.943025|0.0569751;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050168000305150536100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:84665|HGNC:HGNC:23246|MIM:608517;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001256267.1|Genbank:NR_045662.3|Genbank:NM_032578.3|Genbank:NM_001256268.1|Genbank:NR_045663.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,myopalladin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA|misc_RNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MYPN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MYPN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1DD|CMH22|MYOP|RCM4;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,myopalladin|_transcript_variant_4|myopalladin|_transcript_variant_2|myopalladin|_transcript_variant_1|myopalladin|_transcript_variant_5|myopalladin|_transcript_variant_3;transcript_id=,NM_001256267.1|NR_045662.3|NM_032578.3|NM_001256268.1|NR_045663.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA|transcript;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYPN:NM_032578:exon11:c.C2163A:p.A721A,MYPN:NM_001256267:exon12:c.C2163A:p.A721A,MYPN:NM_001256268:exon15:c.C1281A:p.A427A;cytoBand=10q21.3;genomicSuperDups=.;esp6500siv2_all=0.0434;esp6500siv2_ea=0.0123;esp6500siv2_all=0.0434;esp6500siv2_ea=0.0123;1000g2015aug_all=0.0429313;avsnp147=rs71584491;Kaviar_AF=0.0226258;Kaviar_AC=3498;Kaviar_AN=154602;ExAC_ALL=0.0238;ExAC_AFR=0.1129;ExAC_AMR=0.0125;ExAC_EAS=0;ExAC_FIN=0.0079;ExAC_NFE=0.0144;ExAC_OTH=0.0297;ExAC_SAS=0.0323;CLNALLELEID=40466;CLNDN=Dilated_cardiomyopathy_1KK|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C3714995,OMIM:615248|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0697;dpsi_zscore=0.380;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0215;gnomAD_exome_AFR=0.1146;gnomAD_exome_AMR=0.0120;gnomAD_exome_ASJ=0.0184;gnomAD_exome_EAS=5.799e-05;gnomAD_exome_FIN=0.0109;gnomAD_exome_NFE=0.0143;gnomAD_exome_OTH=0.0208;gnomAD_exome_SAS=0.0324;gnomAD_genome_ALL=0.0416;gnomAD_genome_AFR=0.1100;gnomAD_genome_AMR=0.0119;gnomAD_genome_ASJ=0.0132;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0146;gnomAD_genome_NFE=0.0164;gnomAD_genome_OTH=0.0194;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-10 GT:DP:CLCAD2 . . . . . . . . . . . . 1:169:0,77 . . . . . . . . . 1:208:0,85 . . . . . . . . . 1:155:0,72 . . . . 1:105:0,48 . . . . 10 69934258 31808;rs3814182 C G 200.00 . #_unique_end_positions=,61;#_unique_start_positions=,66;AC=41;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4470;AF_TGP_clinvar_20171029_hg19=,0.4715;ALLELEID_clinvar_20171029_hg19=,40468;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4597;AN=41;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001243197.1:p.Ser509Arg|_NP_115967.2:p.Ser803Arg|_NP_001243196.1:p.Ser803Arg;Amino_acid_change_in_longest_transcript=,NP_001243197.1:p.Ser509Arg;BaseQRankSum=,-0.14;CAF_dbsnp_common_v150_hg19_refseq=,0.5286|.|0.4714|.;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNDN_clinvar_20171029_hg19=,not_specified|Cardiovascular_phenotype|not_provided;CLNHGVS_clinvar_20171029_hg19=,NC_000010.10:g.69934258C>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Leiden_Muscular_Dystrophy_pages_(MYPN):MYPN_00020|UniProtKB_(protein):Q86TC9#VAR_026729;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256267.1:c.2409C>G|_NM_001256268.1:c.1527C>G|_NM_032578.3:c.2409C>G;Coding_region_change_in_longest_transcript=,NM_001256268.1:c.1527C>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3512;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5666;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,69;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,MYPN:84665;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84665;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84665;Genotype=,G/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:23246;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:23246;Homo_sapiens_refseq_GRCh37.p13_Genes=,MYPN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001256267.1|NR_045662.3|NM_032578.3|NM_001256268.1|NR_045663.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene21406;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna30603|rna30602|rna30605|rna30604|rna30606;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608517;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608517;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene21406;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,69934258;RS_dbsnp_common_v150_hg19_refseq=,3814182;Read_count=,140;Read_coverage=,140;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001256267.1|NR_045662.3|NM_032578.3|NM_001256268.1|NR_045663.3;Reverse_read_coverage=,71;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5389;SF=2,3,4,5,6,7,8,9,10,11,13,14,15,16,17,18,19,20,23,24,25,26,27,28,29,31,33,35,36,37,38,39;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.497081|.|0.502919|.;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050168000a0515053f100101;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.7;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.277778;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.329545;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.433333;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.265;db_xref=,GeneID:84665|HGNC:HGNC:23246|MIM:608517;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001256267.1|Genbank:NR_045662.3|Genbank:NM_032578.3|Genbank:NM_001256268.1|Genbank:NR_045663.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,myopalladin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA|misc_RNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MYPN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MYPN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1DD|CMH22|MYOP|RCM4;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,myopalladin|_transcript_variant_4|myopalladin|_transcript_variant_2|myopalladin|_transcript_variant_1|myopalladin|_transcript_variant_5|myopalladin|_transcript_variant_3;transcript_id=,NM_001256267.1|NR_045662.3|NM_032578.3|NM_001256268.1|NR_045663.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA|transcript;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYPN:NM_032578:exon11:c.C2409G:p.S803R,MYPN:NM_001256267:exon12:c.C2409G:p.S803R,MYPN:NM_001256268:exon15:c.C1527G:p.S509R;cytoBand=10q21.3;genomicSuperDups=.;esp6500siv2_all=0.5230;esp6500siv2_ea=0.5509;esp6500siv2_all=0.5230;esp6500siv2_ea=0.5509;1000g2015aug_all=0.471446;avsnp147=rs3814182;Kaviar_AF=0.512788;Kaviar_AC=79278;Kaviar_AN=154602;ExAC_ALL=0.5205;ExAC_AFR=0.4598;ExAC_AMR=0.4522;ExAC_EAS=0.3647;ExAC_FIN=0.6409;ExAC_NFE=0.5520;ExAC_OTH=0.5363;ExAC_SAS=0.5113;CLNALLELEID=40468;CLNDN=not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.02;SIFT_pred=D;Polyphen2_HDIV_score=0.879;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.417;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_pred=D;MutationTaster_score=0.951;MutationTaster_pred=P;MutationAssessor_score=1.445;MutationAssessor_pred=L;FATHMM_score=0.38;FATHMM_pred=T;PROVEAN_score=-0.42;PROVEAN_pred=N;VEST3_score=0.386;CADD_raw=2.029;CADD_phred=16.40;DANN_score=0.968;fathmm-MKL_coding_score=0.217;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.073;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=-9.63;phyloP7way_vertebrate=-0.760;phyloP20way_mammalian=-0.330;phastCons7way_vertebrate=0.573;phastCons20way_mammalian=0.913;SiPhy_29way_logOdds=19.595;GDI_full_10282015=.;dpsi_max_tissue=-1.0547;dpsi_zscore=-1.502;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.5203;gnomAD_exome_AFR=0.4602;gnomAD_exome_AMR=0.4632;gnomAD_exome_ASJ=0.4294;gnomAD_exome_EAS=0.3663;gnomAD_exome_FIN=0.6304;gnomAD_exome_NFE=0.5577;gnomAD_exome_OTH=0.5190;gnomAD_exome_SAS=0.5127;gnomAD_genome_ALL=0.5276;gnomAD_genome_AFR=0.4519;gnomAD_genome_AMR=0.4483;gnomAD_genome_ASJ=0.4669;gnomAD_genome_EAS=0.3781;gnomAD_genome_FIN=0.6211;gnomAD_genome_NFE=0.5682;gnomAD_genome_OTH=0.5760;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . 1/1:128:0,128 1:159:0,78 1:137:0,71 1:184:0,73 1:122:0,70 1/1:151:0,151 1:164:0,81 1:174:0,79 1:197:0,81 1/1:162:0,162 . 1:212:0,113 1/1:236:0,236 1:177:0,68 1:174:0,98 1:177:0,73 1/1:148:0,148 1/1:154:0,154 1:132:0,61 . . 1:209:0,94 1:206:0,100 1:138:0,59 1:162:0,94 1:191:0,94 1:199:0,115 1/1:180:0,180 . 1:94:0,51 . 1/1:138:0,138 . 1/1:158:0,158 1:145:0,57 1:129:0,52 1:157:0,72 1:171:0,79 . . 10 69934259 31809;rs62620248 G A 200.00 . #_unique_end_positions=,55;#_unique_start_positions=,46;AC=2;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0023;AF_ESP_clinvar_20171029_hg19=,0.0245;AF_EXAC_clinvar_20171029_hg19=,0.01838;AF_TGP_clinvar_20171029_hg19=,0.0104;ALLELEID_clinvar_20171029_hg19=,40469;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0245;AN=2;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001243196.1:p.Gly804Arg|_NP_001243197.1:p.Gly510Arg|_NP_115967.2:p.Gly804Arg;Amino_acid_change_in_longest_transcript=,NP_001243197.1:p.Gly510Arg;BaseQRankSum=,-0.23;CAF_dbsnp_common_v150_hg19_refseq=,0.9896|0.01038;CLNDISDB_clinvar_20171029_hg19=,MedGen:C3714995|OMIM:615248|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNDN_clinvar_20171029_hg19=,Dilated_cardiomyopathy_1KK|not_specified|Cardiovascular_phenotype|not_provided;CLNHGVS_clinvar_20171029_hg19=,NC_000010.10:g.69934259G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Leiden_Muscular_Dystrophy_pages_(MYPN):MYPN_00021|UniProtKB_(protein):Q86TC9#VAR_069651;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256267.1:c.2410G>A|_NM_001256268.1:c.1528G>A|_NM_032578.3:c.2410G>A;Coding_region_change_in_longest_transcript=,NM_001256268.1:c.1528G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0288;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,212;GENEINFO_dbsnp_common_v150_hg19_refseq=,MYPN:84665;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84665;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84665;Genotype=,complex;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:23246;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:23246;Homo_sapiens_refseq_GRCh37.p13_Genes=,MYPN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001256267.1|NR_045662.3|NM_032578.3|NM_001256268.1|NR_045663.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene21406;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna30603|rna30602|rna30605|rna30604|rna30606;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608517;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608517;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,Yes;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene21406;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,69934259;RS_dbsnp_common_v150_hg19_refseq=,62620248;Read_count=,90;Read_coverage=,227;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.90375703794981;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001256267.1|NR_045662.3|NM_032578.3|NM_001256268.1|NR_045663.3;Reverse_read_coverage=,244;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0031;SF=28,34;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.982897|0.0171028;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050168000a05140436100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.968;db_xref=,GeneID:84665|HGNC:HGNC:23246|MIM:608517;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001256267.1|Genbank:NR_045662.3|Genbank:NM_032578.3|Genbank:NM_001256268.1|Genbank:NR_045663.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,myopalladin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA|misc_RNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MYPN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MYPN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1DD|CMH22|MYOP|RCM4;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,myopalladin|_transcript_variant_4|myopalladin|_transcript_variant_2|myopalladin|_transcript_variant_1|myopalladin|_transcript_variant_5|myopalladin|_transcript_variant_3;transcript_id=,NM_001256267.1|NR_045662.3|NM_032578.3|NM_001256268.1|NR_045663.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA|transcript;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYPN:NM_032578:exon11:c.G2410A:p.G804R,MYPN:NM_001256267:exon12:c.G2410A:p.G804R,MYPN:NM_001256268:exon15:c.G1528A:p.G510R;cytoBand=10q21.3;genomicSuperDups=.;esp6500siv2_all=0.0245;esp6500siv2_ea=0.035;esp6500siv2_all=0.0245;esp6500siv2_ea=0.035;1000g2015aug_all=0.0103834;avsnp147=rs62620248;Kaviar_AF=0.0191589;Kaviar_AC=2962;Kaviar_AN=154602;ExAC_ALL=0.0184;ExAC_AFR=0.0048;ExAC_AMR=0.0142;ExAC_EAS=0.0001;ExAC_FIN=0.0101;ExAC_NFE=0.0278;ExAC_OTH=0.0231;ExAC_SAS=0.0045;CLNALLELEID=40469;CLNDN=Dilated_cardiomyopathy_1KK|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C3714995,OMIM:615248|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.053;SIFT_pred=T;Polyphen2_HDIV_score=0.951;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.384;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.980;MutationTaster_pred=N;MutationAssessor_score=1.355;MutationAssessor_pred=L;FATHMM_score=0.59;FATHMM_pred=T;PROVEAN_score=0.23;PROVEAN_pred=N;VEST3_score=0.122;CADD_raw=2.875;CADD_phred=21.7;DANN_score=0.997;fathmm-MKL_coding_score=0.837;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.998;MetaSVM_pred=T;MetaLR_score=0.038;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.8;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.703;phastCons20way_mammalian=0.959;SiPhy_29way_logOdds=12.540;GDI_full_10282015=.;dpsi_max_tissue=-0.1627;dpsi_zscore=-0.609;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0184;gnomAD_exome_AFR=0.0044;gnomAD_exome_AMR=0.0140;gnomAD_exome_ASJ=0.0264;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0.0099;gnomAD_exome_NFE=0.0292;gnomAD_exome_OTH=0.0188;gnomAD_exome_SAS=0.0045;gnomAD_genome_ALL=0.0154;gnomAD_genome_AFR=0.0044;gnomAD_genome_AMR=0.0227;gnomAD_genome_ASJ=0.0265;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0095;gnomAD_genome_NFE=0.0245;gnomAD_genome_OTH=0.0122;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-10 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:202:0,84 . . . . . 1:154:0,74 . . . . . . . 10 69948844 31799;rs10733838 T C 178.71 . #_unique_end_positions=,36;#_unique_start_positions=,31;AC=83;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9425;ALLELEID_clinvar_20171029_hg19=,40459;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9986;AN=83;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.2;CAF_dbsnp_common_v150_hg19_refseq=,0.01538|0.9846;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374|MedGen:CN517202;CLNDN_clinvar_20171029_hg19=,not_specified|not_provided;CLNHGVS_clinvar_20171029_hg19=,NC_000010.10:g.69948844T>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_single_submitter;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Leiden_Muscular_Dystrophy_pages_(MYPN):MYPN_00011;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256267.1:c.2886T>C|_NM_001256268.1:c.2004T>C|_NM_032578.3:c.2886T>C;Coding_region_change_in_longest_transcript=,NM_001256268.1:c.2004T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,1.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,1.0000;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,16;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,MYPN:84665;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84665;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84665;Genotype=,C/C;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:23246;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:23246;Homo_sapiens_refseq_GRCh37.p13_Genes=,MYPN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001256267.1|NR_045662.3|NM_032578.3|NM_001256268.1|NR_045663.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene21406;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna30603|rna30602|rna30605|rna30604|rna30606;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608517;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608517;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene21406;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,69948844;RS_dbsnp_common_v150_hg19_refseq=,10733838;Read_count=,58;Read_coverage=,58;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001256267.1|NR_045662.3|NM_032578.3|NM_001256268.1|NR_045663.3;Reverse_read_coverage=,42;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,1.0000;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.0229755|0.977025;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05016800030515053e100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.999;db_xref=,GeneID:84665|HGNC:HGNC:23246|MIM:608517;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001256267.1|Genbank:NR_045662.3|Genbank:NM_032578.3|Genbank:NM_001256268.1|Genbank:NR_045663.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,myopalladin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA|misc_RNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MYPN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MYPN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1DD|CMH22|MYOP|RCM4;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,myopalladin|_transcript_variant_4|myopalladin|_transcript_variant_2|myopalladin|_transcript_variant_1|myopalladin|_transcript_variant_5|myopalladin|_transcript_variant_3;transcript_id=,NM_001256267.1|NR_045662.3|NM_032578.3|NM_001256268.1|NR_045663.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA|transcript;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYPN:NM_032578:exon13:c.T2886C:p.V962V,MYPN:NM_001256267:exon14:c.T2886C:p.V962V,MYPN:NM_001256268:exon17:c.T2004C:p.V668V;cytoBand=10q21.3;genomicSuperDups=.;esp6500siv2_all=0.9855;esp6500siv2_ea=0.9994;esp6500siv2_all=0.9855;esp6500siv2_ea=0.9994;1000g2015aug_all=0.984625;avsnp147=rs10733838;Kaviar_AF=0.948526;Kaviar_AC=146644;Kaviar_AN=154602;ExAC_ALL=0.9956;ExAC_AFR=0.9524;ExAC_AMR=0.9983;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9997;ExAC_OTH=0.9978;ExAC_SAS=1;CLNALLELEID=40459;CLNDN=not_specified|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.5363;dpsi_zscore=-1.127;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.9963;gnomAD_exome_AFR=0.9498;gnomAD_exome_AMR=0.9982;gnomAD_exome_ASJ=0.9953;gnomAD_exome_EAS=1;gnomAD_exome_FIN=1;gnomAD_exome_NFE=0.9999;gnomAD_exome_OTH=0.9971;gnomAD_exome_SAS=1;gnomAD_genome_ALL=0.9854;gnomAD_genome_AFR=0.9491;gnomAD_genome_AMR=0.9964;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=1;gnomAD_genome_FIN=1;gnomAD_genome_NFE=0.9998;gnomAD_genome_OTH=0.9969;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1/1:55:0,55 1/1:55:0,55 1/1:62:0,62 1/1:59:0,59 1/1:39:0,39 1/1:52:0,52 1/1:42:0,42 1/1:59:0,59 1/1:62:0,62 1/1:50:0,50 1/1:64:0,64 1/1:56:0,56 1/1:59:0,59 1/1:59:0,59 1/1:73:0,73 1/1:52:0,52 1/1:53:0,53 1/1:65:0,65 1/1:44:0,44 1/1:64:0,64 1/1:92:0,92 1/1:70:0,70 1/1:59:0,59 1/1:65:0,65 1/1:64:0,64 1/1:42:0,42 1/1:44:0,44 1/1:76:0,76 1/1:67:0,67 1/1:51:0,51 1/1:80:0,80 1/1:43:0,43 1:51:0,21 1/1:47:0,47 1/1:58:0,58 1/1:66:0,66 1/1:64:0,64 1/1:47:0,47 1/1:38:0,38 1/1:68:0,68 1/1:58:0,58 1/1:53:0,53 10 69959242 31800;rs7079481 C A 195.37 . #_unique_end_positions=,28;#_unique_start_positions=,25;AC=37;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2163;AF_ESP_clinvar_20171029_hg19=,0.4059;AF_EXAC_clinvar_20171029_hg19=,0.43228;AF_TGP_clinvar_20171029_hg19=,0.3403;ALLELEID_clinvar_20171029_hg19=,40460;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4020;AN=37;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001243197.1:p.Pro841Thr|_NP_001243196.1:p.Pro1135Thr|_NP_115967.2:p.Pro1135Thr;Amino_acid_change_in_longest_transcript=,NP_001243197.1:p.Pro841Thr;BaseQRankSum=,-0.29;CAF_dbsnp_common_v150_hg19_refseq=,0.6597|0.3403;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNDN_clinvar_20171029_hg19=,not_specified|Cardiovascular_phenotype|not_provided;CLNHGVS_clinvar_20171029_hg19=,NC_000010.10:g.69959242C>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Leiden_Muscular_Dystrophy_pages_(MYPN):MYPN_00012|UniProtKB_(protein):Q86TC9#VAR_049913;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001256267.1:c.3403C>A|_NM_001256268.1:c.2521C>A|_NM_032578.3:c.3403C>A;Coding_region_change_in_longest_transcript=,NM_001256268.1:c.2521C>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2391;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4841;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,49;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,MYPN:84665;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84665;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84665;Genotype=,A/C;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:23246;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:23246;Homo_sapiens_refseq_GRCh37.p13_Genes=,MYPN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001256267.1|NR_045662.3|NM_032578.3|NM_001256268.1|NR_045663.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene21406;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna30603|rna30602|rna30605|rna30604|rna30606;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608517;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608517;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene21406;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,69959242;RS_dbsnp_common_v150_hg19_refseq=,7079481;Read_count=,41;Read_coverage=,106;Read_direction_test_probability=,0.989879587205169;Read_position_test_probability=,0.9559593154209438;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001256267.1|NR_045662.3|NM_032578.3|NM_001256268.1|NR_045663.3;Reverse_read_coverage=,57;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4202;SF=3,4,5,6,7,8,9,10,11,13,14,15,18,19,20,23,24,27,28,29,31,32,33,35,36,37,38;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.639467|0.360533;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050368000a0517053f100100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.265306;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.566667;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.256098;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.211765;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.425287;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.188889;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.344444;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.2;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.47;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.192308;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.426136;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.258333;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:84665|HGNC:HGNC:23246|MIM:608517;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001256267.1|Genbank:NR_045662.3|Genbank:NM_032578.3|Genbank:NM_001256268.1|Genbank:NR_045663.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,myopalladin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA|misc_RNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MYPN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MYPN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1DD|CMH22|MYOP|RCM4;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,myopalladin|_transcript_variant_4|myopalladin|_transcript_variant_2|myopalladin|_transcript_variant_1|myopalladin|_transcript_variant_5|myopalladin|_transcript_variant_3;transcript_id=,NM_001256267.1|NR_045662.3|NM_032578.3|NM_001256268.1|NR_045663.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA|transcript;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYPN:NM_032578:exon17:c.C3403A:p.P1135T,MYPN:NM_001256267:exon18:c.C3403A:p.P1135T,MYPN:NM_001256268:exon21:c.C2521A:p.P841T;cytoBand=10q21.3;genomicSuperDups=.;esp6500siv2_all=0.4059;esp6500siv2_ea=0.4786;esp6500siv2_all=0.4059;esp6500siv2_ea=0.4786;1000g2015aug_all=0.340256;avsnp147=rs7079481;Kaviar_AF=0.432582;Kaviar_AC=66878;Kaviar_AN=154602;ExAC_ALL=0.4323;ExAC_AFR=0.2533;ExAC_AMR=0.4148;ExAC_EAS=0.2251;ExAC_FIN=0.5374;ExAC_NFE=0.4806;ExAC_OTH=0.4581;ExAC_SAS=0.4268;CLNALLELEID=40460;CLNDN=Dilated_cardiomyopathy_1KK|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C3714995,OMIM:615248|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.01;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=1.0;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=1.06;MutationAssessor_pred=L;FATHMM_score=-0.65;FATHMM_pred=T;PROVEAN_score=-4.63;PROVEAN_pred=D;VEST3_score=0.56;CADD_raw=6.536;CADD_phred=31;DANN_score=0.998;fathmm-MKL_coding_score=0.988;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.935;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.38;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.983;phastCons20way_mammalian=0.869;SiPhy_29way_logOdds=19.331;GDI_full_10282015=.;dpsi_max_tissue=-0.3760;dpsi_zscore=-0.954;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.4337;gnomAD_exome_AFR=0.2546;gnomAD_exome_AMR=0.4170;gnomAD_exome_ASJ=0.3310;gnomAD_exome_EAS=0.2184;gnomAD_exome_FIN=0.5262;gnomAD_exome_NFE=0.4879;gnomAD_exome_OTH=0.4327;gnomAD_exome_SAS=0.4309;gnomAD_genome_ALL=0.4160;gnomAD_genome_AFR=0.2562;gnomAD_genome_AMR=0.4165;gnomAD_genome_ASJ=0.3433;gnomAD_genome_EAS=0.2112;gnomAD_genome_FIN=0.5249;gnomAD_genome_NFE=0.5020;gnomAD_genome_OTH=0.4928;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-7 GT:DP:CLCAD2 . . . 1:89:0,36 1/1:74:0,74 1/1:92:0,92 1:56:0,25 1/1:79:0,79 1:111:0,56 1:88:0,40 1:128:0,67 1:80:0,38 . 1:103:0,45 1/1:121:0,121 1/1:98:0,98 . . 1/1:78:0,78 1/1:88:0,88 1:125:0,59 . . 1/1:125:0,125 1:110:0,51 . . 1:98:0,51 1:124:0,70 1:106:0,52 . 1:80:0,41 1:102:0,42 1/1:83:0,83 . 1:103:0,53 1:84:0,42 1:64:0,19 1/1:62:0,62 . . . 10 69959262 . A G 200.00 . #_unique_end_positions=,37;#_unique_start_positions=,38;AC=1;AN=1;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.35;Coding_region_change=,NM_001256267.1:c.3423A>G|_NM_001256268.1:c.2541A>G|_NM_032578.3:c.3423A>G;Coding_region_change_in_longest_transcript=,NM_001256268.1:c.2541A>G;Forward_read_coverage=,51;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:84665;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:84665;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:23246;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:23246;Homo_sapiens_refseq_GRCh37.p13_Genes=,MYPN;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001256267.1|NR_045662.3|NM_032578.3|NM_001256268.1|NR_045663.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene21406;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna30603|rna30602|rna30605|rna30604|rna30606;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608517;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608517;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene21406;QUAL=,200.0;Read_count=,62;Read_coverage=,118;Read_direction_test_probability=,0.9050977458523116;Read_position_test_probability=,0.8097368137596177;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001256267.1|NR_045662.3|NM_032578.3|NM_001256268.1|NR_045663.3;Reverse_read_coverage=,67;SF=8;conservation_score=,0.099;db_xref=,GeneID:84665|HGNC:HGNC:23246|MIM:608517;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001256267.1|Genbank:NR_045662.3|Genbank:NM_032578.3|Genbank:NM_001256268.1|Genbank:NR_045663.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,myopalladin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA|misc_RNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MYPN;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MYPN;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1DD|CMH22|MYOP|RCM4;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,myopalladin|_transcript_variant_4|myopalladin|_transcript_variant_2|myopalladin|_transcript_variant_1|myopalladin|_transcript_variant_5|myopalladin|_transcript_variant_3;transcript_id=,NM_001256267.1|NR_045662.3|NM_032578.3|NM_001256268.1|NR_045663.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA|transcript;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYPN:NM_032578:exon17:c.A3423G:p.A1141A,MYPN:NM_001256267:exon18:c.A3423G:p.A1141A,MYPN:NM_001256268:exon21:c.A2541G:p.A847A;cytoBand=10q21.3;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs776844468;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;ExAC_ALL=3.295e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=5.994e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.4259;dpsi_zscore=1.052;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=1.625e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=3.582e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . 1:106:0,56 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 10 75802897 . A G 94.76 . #_unique_end_positions=,14;#_unique_start_positions=,9;AC=1;AN=1;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;Coding_region_change=,NM_003373.3:c.225A>G|_NM_014000.2:c.225A>G;Coding_region_change_in_longest_transcript=,NM_014000.2:c.225A>G;Forward_read_coverage=,12;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7414;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7414;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12665;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12665;Homo_sapiens_refseq_GRCh37.p13_Genes=,VCL;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003373.3|NM_014000.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene21537;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna30876|rna30875;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:193065;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:193065;Non-synonymous=,No;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene21537;QUAL=,94.76007115103124;Read_count=,14;Read_coverage=,37;Read_direction_test_probability=,0.8730787495520723;Read_position_test_probability=,0.6484316901821296;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003373.3|NM_014000.2;Reverse_read_coverage=,25;SF=20;conservation_score=,1.0;db_xref=,GeneID:7414|HGNC:HGNC:12665|MIM:193065;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:01900;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003373.3|HPRD:01900|Genbank:NM_014000.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,vinculin;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,VCL;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,VCL;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1W|CMH15|HEL114|MV|MVCL;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,vinculin|_transcript_variant_2|vinculin|_transcript_variant_1;transcript_id=,NM_003373.3|NM_014000.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=VCL;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=VCL:NM_003373:exon2:c.A225G:p.P75P,VCL:NM_014000:exon2:c.A225G:p.P75P;cytoBand=10q22.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs759937112;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;ExAC_ALL=2.476e-05;ExAC_AFR=0;ExAC_AMR=8.637e-05;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=3.002e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=460943;CLNDN=Dilated_cardiomyopathy_1W|not_specified;CLNDISDB=MedGen:C1969639,OMIM:611407|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0682;dpsi_zscore=0.374;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=2.438e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=2.978e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=4.479e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . 1:35:0,14 . . . . . . . . . . . . . . . . . . . . . 10 75830527 36897;rs56314318 G A 200.00 . #_unique_end_positions=,31;#_unique_start_positions=,29;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2557;AF_ESP_clinvar_20171029_hg19=,0.0739;AF_EXAC_clinvar_20171029_hg19=,0.02056;AF_TGP_clinvar_20171029_hg19=,0.0717;ALLELEID_clinvar_20171029_hg19=,45558;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0274;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-1.1;CAF_dbsnp_common_v150_hg19_refseq=,0.9283|0.07169;CLNDISDB_clinvar_20171029_hg19=,MedGen:C0878544|Orphanet:ORPHA167848|SNOMED_CT:85898001|MedGen:C1969639|OMIM:611407|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNDN_clinvar_20171029_hg19=,Cardiomyopathy|Dilated_cardiomyopathy_1W|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant;CLNHGVS_clinvar_20171029_hg19=,NC_000010.10:g.75830527G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:160994;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_003373.3:c.339G>A|_NM_014000.2:c.339G>A;Coding_region_change_in_longest_transcript=,NM_014000.2:c.339G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,71;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,VCL:7414;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7414;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7414;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12665;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12665;Homo_sapiens_refseq_GRCh37.p13_Genes=,VCL;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003373.3|NM_014000.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene21537;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna30876|rna30875;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:193065;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:193065;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene21537;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,75830527;RS_dbsnp_common_v150_hg19_refseq=,56314318;Read_count=,45;Read_coverage=,107;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9968472192362413;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003373.3|NM_014000.2;Reverse_read_coverage=,36;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;SF=32;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.902157|0.0978433;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05036800030515053e100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.998;db_xref=,GeneID:7414|HGNC:HGNC:12665|MIM:193065;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:01900;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003373.3|HPRD:01900|Genbank:NM_014000.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,vinculin;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,VCL;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,VCL;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1W|CMH15|HEL114|MV|MVCL;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,vinculin|_transcript_variant_2|vinculin|_transcript_variant_1;transcript_id=,NM_003373.3|NM_014000.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=VCL;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=VCL:NM_003373:exon3:c.G339A:p.R113R,VCL:NM_014000:exon3:c.G339A:p.R113R;cytoBand=10q22.2;genomicSuperDups=.;esp6500siv2_all=0.0739;esp6500siv2_ea=0.0020;esp6500siv2_all=0.0739;esp6500siv2_ea=0.0020;1000g2015aug_all=0.0716853;avsnp147=rs56314318;Kaviar_AF=0.0197604;Kaviar_AC=3055;Kaviar_AN=154602;ExAC_ALL=0.0206;ExAC_AFR=0.2176;ExAC_AMR=0.0097;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0015;ExAC_OTH=0.0077;ExAC_SAS=0.0005;CLNALLELEID=45558;CLNDN=Cardiomyopathy|Dilated_cardiomyopathy_1W|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1969639,OMIM:611407|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.3005;dpsi_zscore=0.892;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0164;gnomAD_exome_AFR=0.2203;gnomAD_exome_AMR=0.0100;gnomAD_exome_ASJ=0.0150;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0009;gnomAD_exome_OTH=0.0120;gnomAD_exome_SAS=0.0005;gnomAD_genome_ALL=0.0613;gnomAD_genome_AFR=0.2130;gnomAD_genome_AMR=0.0131;gnomAD_genome_ASJ=0.0265;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0010;gnomAD_genome_OTH=0.0072;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:92:0,39 . . . . . . . . . 10 75834646 36898;rs56413529 T C 200.00 . #_unique_end_positions=,20;#_unique_start_positions=,19;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2587;AF_ESP_clinvar_20171029_hg19=,0.0741;AF_EXAC_clinvar_20171029_hg19=,0.02066;AF_TGP_clinvar_20171029_hg19=,0.0725;ALLELEID_clinvar_20171029_hg19=,45559;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0274;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.9275|0.07248;CLNDISDB_clinvar_20171029_hg19=,MedGen:C0878544|Orphanet:ORPHA167848|SNOMED_CT:85898001|MedGen:C1969639|OMIM:611407|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNDN_clinvar_20171029_hg19=,Cardiomyopathy|Dilated_cardiomyopathy_1W|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant;CLNHGVS_clinvar_20171029_hg19=,NC_000010.10:g.75834646T>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:161012;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_003373.3:c.768T>C|_NM_014000.2:c.768T>C;Coding_region_change_in_longest_transcript=,NM_014000.2:c.768T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,30;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,VCL:7414;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7414;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7414;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12665;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12665;Homo_sapiens_refseq_GRCh37.p13_Genes=,VCL;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003373.3|NM_014000.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene21537;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna30876|rna30875;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:193065;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:193065;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene21537;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,75834646;RS_dbsnp_common_v150_hg19_refseq=,56413529;Read_count=,31;Read_coverage=,72;Read_direction_test_probability=,0.999996980005455;Read_position_test_probability=,0.9379171852978907;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003373.3|NM_014000.2;Reverse_read_coverage=,42;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;SF=32;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.901058|0.0989422;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05036800030515053e100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:7414|HGNC:HGNC:12665|MIM:193065;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:01900;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003373.3|HPRD:01900|Genbank:NM_014000.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,vinculin;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,VCL;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,VCL;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1W|CMH15|HEL114|MV|MVCL;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,vinculin|_transcript_variant_2|vinculin|_transcript_variant_1;transcript_id=,NM_003373.3|NM_014000.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=VCL;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=VCL:NM_003373:exon6:c.T768C:p.D256D,VCL:NM_014000:exon6:c.T768C:p.D256D;cytoBand=10q22.2;genomicSuperDups=.;esp6500siv2_all=0.0741;esp6500siv2_ea=0.0020;esp6500siv2_all=0.0741;esp6500siv2_ea=0.0020;1000g2015aug_all=0.072484;avsnp147=rs56413529;Kaviar_AF=0.0199286;Kaviar_AC=3081;Kaviar_AN=154602;ExAC_ALL=0.0207;ExAC_AFR=0.2204;ExAC_AMR=0.0098;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0016;ExAC_OTH=0.0077;ExAC_SAS=0.0004;CLNALLELEID=45559;CLNDN=Cardiomyopathy|Dilated_cardiomyopathy_1W|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1969639,OMIM:611407|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0482;dpsi_zscore=0.290;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0165;gnomAD_exome_AFR=0.2216;gnomAD_exome_AMR=0.0101;gnomAD_exome_ASJ=0.0150;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0009;gnomAD_exome_OTH=0.0124;gnomAD_exome_SAS=0.0004;gnomAD_genome_ALL=0.0615;gnomAD_genome_AFR=0.2133;gnomAD_genome_AMR=0.0144;gnomAD_genome_ASJ=0.0265;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0011;gnomAD_genome_OTH=0.0071;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:66:0,27 . . . . . . . . . 10 75849921 45577;rs71579355 T C 105.70 . #_unique_end_positions=,23;#_unique_start_positions=,23;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0039;AF_EXAC_clinvar_20171029_hg19=,0.00419;AF_TGP_clinvar_20171029_hg19=,0.0020;ALLELEID_clinvar_20171029_hg19=,54743;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0014;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.19;CAF_dbsnp_common_v150_hg19_refseq=,0.998|0.001997;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1969639|OMIM:611407|MedGen:CN169374|MedGen:CN230736;CLNDN_clinvar_20171029_hg19=,Dilated_cardiomyopathy_1W|not_specified|Cardiovascular_phenotype;CLNHGVS_clinvar_20171029_hg19=,NC_000010.10:g.75849921T>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_003373.3:c.1317T>C|_NM_014000.2:c.1317T>C;Coding_region_change_in_longest_transcript=,NM_014000.2:c.1317T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0080;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,26;GENEINFO_dbsnp_common_v150_hg19_refseq=,VCL:7414;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7414;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7414;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12665;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12665;Homo_sapiens_refseq_GRCh37.p13_Genes=,VCL;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003373.3|NM_014000.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene21537;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna30876|rna30875;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:193065;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:193065;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene21537;QUAL=,105.696094745397;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,75849921;RS_dbsnp_common_v150_hg19_refseq=,71579355;Read_count=,35;Read_coverage=,56;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9999014982735223;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003373.3|NM_014000.2;Reverse_read_coverage=,30;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;SF=15;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.99715|0.00285047;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050228000305040436000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:7414|HGNC:HGNC:12665|MIM:193065;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:01900;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003373.3|HPRD:01900|Genbank:NM_014000.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,vinculin;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,VCL;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,VCL;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1W|CMH15|HEL114|MV|MVCL;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,vinculin|_transcript_variant_2|vinculin|_transcript_variant_1;transcript_id=,NM_003373.3|NM_014000.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=VCL;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=VCL:NM_003373:exon10:c.T1317C:p.S439S,VCL:NM_014000:exon10:c.T1317C:p.S439S;cytoBand=10q22.2;genomicSuperDups=.;esp6500siv2_all=0.0039;esp6500siv2_ea=0.0056;esp6500siv2_all=0.0039;esp6500siv2_ea=0.0056;1000g2015aug_all=0.00199681;avsnp147=rs71579355;Kaviar_AF=0.0044825;Kaviar_AC=693;Kaviar_AN=154602;ExAC_ALL=0.0042;ExAC_AFR=0.0009;ExAC_AMR=0.0048;ExAC_EAS=0;ExAC_FIN=0.0003;ExAC_NFE=0.0062;ExAC_OTH=0.0044;ExAC_SAS=0.0016;CLNALLELEID=54743;CLNDN=Dilated_cardiomyopathy_1W|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1969639,OMIM:611407|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0720;dpsi_zscore=0.389;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0042;gnomAD_exome_AFR=0.0007;gnomAD_exome_AMR=0.0050;gnomAD_exome_ASJ=0.0057;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0006;gnomAD_exome_NFE=0.0062;gnomAD_exome_OTH=0.0044;gnomAD_exome_SAS=0.0020;gnomAD_genome_ALL=0.0029;gnomAD_genome_AFR=0.0015;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0009;gnomAD_genome_NFE=0.0047;gnomAD_genome_OTH=0.0031;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-8 GT:DP:CLCAD2 . . . . . . . . . . . . . . . 1:49:0,31 . . . . . . . . . . . . . . . . . . . . . . . . . . 10 75854083 45579;rs2229507 C T 200.00 . #_unique_end_positions=,58;#_unique_start_positions=,54;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2458;AF_ESP_clinvar_20171029_hg19=,0.0731;AF_EXAC_clinvar_20171029_hg19=,0.02304;AF_TGP_clinvar_20171029_hg19=,0.0697;ALLELEID_clinvar_20171029_hg19=,54745;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0216;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.15;CAF_dbsnp_common_v150_hg19_refseq=,0.9303|0.06969;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1969639|OMIM:611407|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNDN_clinvar_20171029_hg19=,Dilated_cardiomyopathy_1W|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant;CLNHGVS_clinvar_20171029_hg19=,NC_000010.10:g.75854083C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:123006;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_003373.3:c.1407C>T|_NM_014000.2:c.1407C>T;Coding_region_change_in_longest_transcript=,NM_014000.2:c.1407C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0030;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0020;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,95;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,VCL:7414;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7414;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7414;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12665;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12665;Homo_sapiens_refseq_GRCh37.p13_Genes=,VCL;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003373.3|NM_014000.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene21537;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna30876|rna30875;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:193065;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:193065;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene21537;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,75854083;RS_dbsnp_common_v150_hg19_refseq=,2229507;Read_count=,79;Read_coverage=,171;Read_direction_test_probability=,0.997399271501249;Read_position_test_probability=,0.9799540787070055;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003373.3|NM_014000.2;Reverse_read_coverage=,76;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0041;SF=27;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.905797|0.0942029;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050328000305150136000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.984;db_xref=,GeneID:7414|HGNC:HGNC:12665|MIM:193065;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:01900;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003373.3|HPRD:01900|Genbank:NM_014000.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,vinculin;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,VCL;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,VCL;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1W|CMH15|HEL114|MV|MVCL;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,vinculin|_transcript_variant_2|vinculin|_transcript_variant_1;transcript_id=,NM_003373.3|NM_014000.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=VCL;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=VCL:NM_003373:exon11:c.C1407T:p.A469A,VCL:NM_014000:exon11:c.C1407T:p.A469A;cytoBand=10q22.2;genomicSuperDups=.;esp6500siv2_all=0.0731;esp6500siv2_ea=0.0062;esp6500siv2_all=0.0731;esp6500siv2_ea=0.0062;1000g2015aug_all=0.0696885;avsnp147=rs2229507;Kaviar_AF=0.0221795;Kaviar_AC=3429;Kaviar_AN=154602;ExAC_ALL=0.0230;ExAC_AFR=0.2104;ExAC_AMR=0.0100;ExAC_EAS=0.0020;ExAC_FIN=0.0005;ExAC_NFE=0.0060;ExAC_OTH=0.0189;ExAC_SAS=0.0032;CLNALLELEID=54745;CLNDN=Dilated_cardiomyopathy_1W|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C1969639,OMIM:611407|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0276;dpsi_zscore=0.183;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0189;gnomAD_exome_AFR=0.2152;gnomAD_exome_AMR=0.0116;gnomAD_exome_ASJ=0.0201;gnomAD_exome_EAS=0.0018;gnomAD_exome_FIN=0.0004;gnomAD_exome_NFE=0.0052;gnomAD_exome_OTH=0.0144;gnomAD_exome_SAS=0.0029;gnomAD_genome_ALL=0.0596;gnomAD_genome_AFR=0.2017;gnomAD_genome_AMR=0.0155;gnomAD_genome_ASJ=0.0166;gnomAD_genome_EAS=0.0043;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0037;gnomAD_genome_OTH=0.0112;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:154:0,75 . . . . . . . . . . . . . . 10 75854182 45580;rs2228373 G A 200.00 . #_unique_end_positions=,56;#_unique_start_positions=,48;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2451;AF_ESP_clinvar_20171029_hg19=,0.0730;AF_EXAC_clinvar_20171029_hg19=,0.02362;AF_TGP_clinvar_20171029_hg19=,0.0695;ALLELEID_clinvar_20171029_hg19=,54746;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0216;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.3;CAF_dbsnp_common_v150_hg19_refseq=,0.9305|0.06949;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1969639|OMIM:611407|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNDN_clinvar_20171029_hg19=,Dilated_cardiomyopathy_1W|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant;CLNHGVS_clinvar_20171029_hg19=,NC_000010.10:g.75854182G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:123009;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_003373.3:c.1506G>A|_NM_014000.2:c.1506G>A;Coding_region_change_in_longest_transcript=,NM_014000.2:c.1506G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0030;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0020;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,53;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,VCL:7414;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7414;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7414;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12665;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12665;Homo_sapiens_refseq_GRCh37.p13_Genes=,VCL;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003373.3|NM_014000.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene21537;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna30876|rna30875;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:193065;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:193065;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene21537;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,75854182;RS_dbsnp_common_v150_hg19_refseq=,2228373;Read_count=,82;Read_coverage=,180;Read_direction_test_probability=,0.5484916430672606;Read_position_test_probability=,0.8913370622215087;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003373.3|NM_014000.2;Reverse_read_coverage=,127;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0041;SF=27;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.905763|0.0942372;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050328000305150536000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:7414|HGNC:HGNC:12665|MIM:193065;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:01900;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003373.3|HPRD:01900|Genbank:NM_014000.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,vinculin;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,VCL;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,VCL;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1W|CMH15|HEL114|MV|MVCL;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,vinculin|_transcript_variant_2|vinculin|_transcript_variant_1;transcript_id=,NM_003373.3|NM_014000.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=VCL;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=VCL:NM_003373:exon11:c.G1506A:p.R502R,VCL:NM_014000:exon11:c.G1506A:p.R502R;cytoBand=10q22.2;genomicSuperDups=.;esp6500siv2_all=0.0730;esp6500siv2_ea=0.0062;esp6500siv2_all=0.0730;esp6500siv2_ea=0.0062;1000g2015aug_all=0.0694888;avsnp147=rs2228373;Kaviar_AF=0.0223606;Kaviar_AC=3457;Kaviar_AN=154602;ExAC_ALL=0.0236;ExAC_AFR=0.2155;ExAC_AMR=0.0106;ExAC_EAS=0.0020;ExAC_FIN=0.0005;ExAC_NFE=0.0062;ExAC_OTH=0.0195;ExAC_SAS=0.0033;CLNALLELEID=54746;CLNDN=Dilated_cardiomyopathy_1W|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C1969639,OMIM:611407|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0833;dpsi_zscore=0.430;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0189;gnomAD_exome_AFR=0.2149;gnomAD_exome_AMR=0.0117;gnomAD_exome_ASJ=0.0200;gnomAD_exome_EAS=0.0018;gnomAD_exome_FIN=0.0004;gnomAD_exome_NFE=0.0051;gnomAD_exome_OTH=0.0144;gnomAD_exome_SAS=0.0029;gnomAD_genome_ALL=0.0597;gnomAD_genome_AFR=0.2017;gnomAD_genome_AMR=0.0155;gnomAD_genome_ASJ=0.0166;gnomAD_genome_EAS=0.0043;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0037;gnomAD_genome_OTH=0.0112;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:163:0,72 . . . . . . . . . . . . . . 10 75855541 45587;rs137877092 C T 200.00 . #_unique_end_positions=,32;#_unique_start_positions=,33;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0010;AF_EXAC_clinvar_20171029_hg19=,0.00511;AF_TGP_clinvar_20171029_hg19=,0.0032;ALLELEID_clinvar_20171029_hg19=,54753;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0014;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.26;CAF_dbsnp_common_v150_hg19_refseq=,0.9968|0.003195;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1969639|OMIM:611407|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNDN_clinvar_20171029_hg19=,Dilated_cardiomyopathy_1W|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant;CLNHGVS_clinvar_20171029_hg19=,NC_000010.10:g.75855541C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_conflicting_interpretations;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:304286;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_003373.3:c.1671C>T|_NM_014000.2:c.1671C>T;Coding_region_change_in_longest_transcript=,NM_014000.2:c.1671C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0030;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,50;GENEINFO_dbsnp_common_v150_hg19_refseq=,VCL:7414;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7414;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7414;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12665;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12665;Homo_sapiens_refseq_GRCh37.p13_Genes=,VCL;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003373.3|NM_014000.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene21537;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna30876|rna30875;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:193065;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:193065;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene21537;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,75855541;RS_dbsnp_common_v150_hg19_refseq=,137877092;Read_count=,50;Read_coverage=,127;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9482726692568795;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003373.3|NM_014000.2;Reverse_read_coverage=,77;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0123;SF=12;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.999107|0.000892918;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050328000305040036000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:7414|HGNC:HGNC:12665|MIM:193065;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:01900;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003373.3|HPRD:01900|Genbank:NM_014000.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,vinculin;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,VCL;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,VCL;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1W|CMH15|HEL114|MV|MVCL;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,vinculin|_transcript_variant_2|vinculin|_transcript_variant_1;transcript_id=,NM_003373.3|NM_014000.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=VCL;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=VCL:NM_003373:exon12:c.C1671T:p.D557D,VCL:NM_014000:exon12:c.C1671T:p.D557D;cytoBand=10q22.2;genomicSuperDups=.;esp6500siv2_all=0.0010;esp6500siv2_ea=0.0015;esp6500siv2_all=0.0010;esp6500siv2_ea=0.0015;1000g2015aug_all=0.00319489;avsnp147=rs137877092;Kaviar_AF=0.0044178;Kaviar_AC=683;Kaviar_AN=154602;ExAC_ALL=0.0051;ExAC_AFR=9.638e-05;ExAC_AMR=0.0010;ExAC_EAS=0.0002;ExAC_FIN=0.0159;ExAC_NFE=0.0028;ExAC_OTH=0.0077;ExAC_SAS=0.0186;CLNALLELEID=54753;CLNDN=Dilated_cardiomyopathy_1W|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C1969639,OMIM:611407|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.4109;dpsi_zscore=-0.996;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0051;gnomAD_exome_AFR=6.537e-05;gnomAD_exome_AMR=0.0008;gnomAD_exome_ASJ=0.0050;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0.0156;gnomAD_exome_NFE=0.0022;gnomAD_exome_OTH=0.0055;gnomAD_exome_SAS=0.0178;gnomAD_genome_ALL=0.0034;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0177;gnomAD_genome_NFE=0.0022;gnomAD_genome_OTH=0.0061;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . . . . . 1:119:0,47 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 10 75860740 45594;rs71579374 A G 200.00 . #_unique_end_positions=,23;#_unique_start_positions=,23;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0009;AF_EXAC_clinvar_20171029_hg19=,0.00149;AF_TGP_clinvar_20171029_hg19=,0.0004;ALLELEID_clinvar_20171029_hg19=,54760;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AN=1;Amino_acid_change=,NP_003364.1:p.His636Arg|_NP_054706.1:p.His636Arg;Amino_acid_change_in_longest_transcript=,NP_054706.1:p.His636Arg;BaseQRankSum=,0.0;CLNDISDB_clinvar_20171029_hg19=,MedGen:C0949658|Orphanet:ORPHA155|SNOMED_CT:83978005|MedGen:C1969639|OMIM:611407|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNDN_clinvar_20171029_hg19=,Primary_familial_hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1W|not_specified|Cardiovascular_phenotype|not_provided;CLNHGVS_clinvar_20171029_hg19=,NC_000010.10:g.75860740A>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_conflicting_interpretations;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;Coding_region_change=,NM_003373.3:c.1907A>G|_NM_014000.2:c.1907A>G;Coding_region_change_in_longest_transcript=,NM_014000.2:c.1907A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;Exact_match=,clinvar_20171029_hg19|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,39;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7414;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7414;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12665;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12665;Homo_sapiens_refseq_GRCh37.p13_Genes=,VCL;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003373.3|NM_014000.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene21537;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna30876|rna30875;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:193065;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:193065;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene21537;QUAL=,200.0;Read_count=,35;Read_coverage=,74;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.8784598408534273;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003373.3|NM_014000.2;Reverse_read_coverage=,35;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;SF=18;conservation_score=,1.0;db_xref=,GeneID:7414|HGNC:HGNC:12665|MIM:193065;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:01900;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003373.3|HPRD:01900|Genbank:NM_014000.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,vinculin;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,VCL;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,VCL;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1W|CMH15|HEL114|MV|MVCL;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,vinculin|_transcript_variant_2|vinculin|_transcript_variant_1;transcript_id=,NM_003373.3|NM_014000.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=VCL;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=VCL:NM_003373:exon14:c.A1907G:p.H636R,VCL:NM_014000:exon14:c.A1907G:p.H636R;cytoBand=10q22.2;genomicSuperDups=.;esp6500siv2_all=0.0009;esp6500siv2_ea=0.0013;esp6500siv2_all=0.0009;esp6500siv2_ea=0.0013;1000g2015aug_all=0.000399361;avsnp147=rs71579374;Kaviar_AF=0.0013713;Kaviar_AC=212;Kaviar_AN=154602;ExAC_ALL=0.0015;ExAC_AFR=0.0003;ExAC_AMR=8.687e-05;ExAC_EAS=0;ExAC_FIN=0.0067;ExAC_NFE=0.0017;ExAC_OTH=0.0022;ExAC_SAS=0.0012;CLNALLELEID=54760;CLNDN=Primary_familial_hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1W|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C1969639,OMIM:611407|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.269;SIFT_pred=T;Polyphen2_HDIV_score=0.989;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.954;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.005;MutationAssessor_pred=M;FATHMM_score=0.59;FATHMM_pred=T;PROVEAN_score=-3.09;PROVEAN_pred=D;VEST3_score=0.901;CADD_raw=4.266;CADD_phred=23.9;DANN_score=0.997;fathmm-MKL_coding_score=0.991;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.430;MetaSVM_pred=T;MetaLR_score=0.309;MetaLR_pred=T;integrated_fitCons_score=0.672;integrated_confidence_value=0;GERP++_RS=5.04;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.083;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=15.063;GDI_full_10282015=.;dpsi_max_tissue=-0.5732;dpsi_zscore=-1.161;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM168824#"Cardiomyopathy_hypertrophic";gnomAD_exome_ALL=0.0015;gnomAD_exome_AFR=0.0003;gnomAD_exome_AMR=0.0004;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0062;gnomAD_exome_NFE=0.0014;gnomAD_exome_OTH=0.0018;gnomAD_exome_SAS=0.0013;gnomAD_genome_ALL=0.0017;gnomAD_genome_AFR=0.0003;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0074;gnomAD_genome_NFE=0.0013;gnomAD_genome_OTH=0.0061;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . 1:68:0,32 . . . . . . . . . . . . . . . . . . . . . . . 10 75865065 45595;rs767809 G A 198.88 . #_unique_end_positions=,35;#_unique_start_positions=,29;AC=45;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0598;AF_ESP_clinvar_20171029_hg19=,0.4387;AF_EXAC_clinvar_20171029_hg19=,0.47612;AF_TGP_clinvar_20171029_hg19=,0.3247;ALLELEID_clinvar_20171029_hg19=,54761;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4568;AN=45;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.05;CAF_dbsnp_common_v150_hg19_refseq=,0.6753|0.3247;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNDN_clinvar_20171029_hg19=,not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant;CLNHGVS_clinvar_20171029_hg19=,NC_000010.10:g.75865065G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:5295;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_003373.3:c.2388G>A|_NM_014000.2:c.2388G>A;Coding_region_change_in_longest_transcript=,NM_014000.2:c.2388G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2540;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5915;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,51;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,VCL:7414;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7414;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7414;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12665;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12665;Homo_sapiens_refseq_GRCh37.p13_Genes=,VCL;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003373.3|NM_014000.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene21537;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna30876|rna30875;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:193065;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:193065;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene21537;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,75865065;RS_dbsnp_common_v150_hg19_refseq=,767809;Read_count=,50;Read_coverage=,126;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9719986725678916;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003373.3|NM_014000.2;Reverse_read_coverage=,75;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3875;SF=0,1,2,3,4,5,6,7,8,10,11,13,14,15,16,17,19,20,22,23,24,25,26,27,28,29,30,31,33,34,35,36,37,38,39,40;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.649873|0.350127;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05036800030515053f100100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.132653;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.615044;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.231707;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.264706;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.363636;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.255814;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.313953;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.0666667;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.48;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.195804;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.607955;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0221239;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.885;db_xref=,GeneID:7414|HGNC:HGNC:12665|MIM:193065;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:01900;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003373.3|HPRD:01900|Genbank:NM_014000.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,vinculin;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,VCL;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,VCL;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1W|CMH15|HEL114|MV|MVCL;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,vinculin|_transcript_variant_2|vinculin|_transcript_variant_1;transcript_id=,NM_003373.3|NM_014000.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=VCL;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=VCL:NM_003373:exon16:c.G2388A:p.P796P,VCL:NM_014000:exon16:c.G2388A:p.P796P;cytoBand=10q22.2;genomicSuperDups=.;esp6500siv2_all=0.4387;esp6500siv2_ea=0.5895;esp6500siv2_all=0.4387;esp6500siv2_ea=0.5895;1000g2015aug_all=0.324681;avsnp147=rs767809;Kaviar_AF=0.479573;Kaviar_AC=74143;Kaviar_AN=154602;ExAC_ALL=0.4761;ExAC_AFR=0.1261;ExAC_AMR=0.3736;ExAC_EAS=0.2618;ExAC_FIN=0.5442;ExAC_NFE=0.5852;ExAC_OTH=0.5310;ExAC_SAS=0.4094;CLNALLELEID=54761;CLNDN=not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0205;dpsi_zscore=-0.107;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.4821;gnomAD_exome_AFR=0.1210;gnomAD_exome_AMR=0.3950;gnomAD_exome_ASJ=0.6871;gnomAD_exome_EAS=0.2550;gnomAD_exome_FIN=0.5476;gnomAD_exome_NFE=0.5798;gnomAD_exome_OTH=0.5250;gnomAD_exome_SAS=0.4094;gnomAD_genome_ALL=0.4299;gnomAD_genome_AFR=0.1369;gnomAD_genome_AMR=0.4511;gnomAD_genome_ASJ=0.6967;gnomAD_genome_EAS=0.2801;gnomAD_genome_FIN=0.5312;gnomAD_genome_NFE=0.5824;gnomAD_genome_OTH=0.4878;Whole_Blood=Whole_Blood::0.468835::0.275871;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 1:107:0,45 1/1:154:0,154 1/1:132:0,132 1:153:0,83 1/1:95:0,95 1:125:0,61 1:112:0,53 1:148:0,79 1:182:0,93 . 1/1:189:0,189 1:155:0,81 . 1:171:0,65 1:203:0,105 1:157:0,69 1/1:174:0,174 1/1:185:0,185 . 1:164:0,73 1/1:175:0,175 . 1:185:0,98 1:152:0,80 1:190:0,92 1:114:0,50 1:139:0,63 1:162:0,69 1:224:0,106 1:186:0,96 1:158:0,75 1:114:0,55 . 1:116:0,57 1:134:0,68 1:163:0,80 1:135:0,75 1:126:0,68 1:132:0,83 1/1:172:0,172 1/1:184:0,184 . 10 75871735 45600;rs2131956 C G 191.72 . #_unique_end_positions=,70;#_unique_start_positions=,74;AC=64;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7753;ALLELEID_clinvar_20171029_hg19=,54766;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6744;AN=64;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.08;CAF_dbsnp_common_v150_hg19_refseq=,0.377|0.623;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNDN_clinvar_20171029_hg19=,not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant;CLNHGVS_clinvar_20171029_hg19=,NC_000010.10:g.75871735C>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:5302;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_003373.3:c.2746-2207C>G|_NM_014000.2:c.2814C>G;Coding_region_change_in_longest_transcript=,NM_014000.2:c.2814C>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3819;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7485;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU;Forward_read_coverage=,121;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,VCL:7414;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7414;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7414;Genotype=,G/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12665;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12665;Homo_sapiens_refseq_GRCh37.p13_Genes=,VCL;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_014000.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene21537;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna30875;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001627|intron_variant|SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:193065;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:193065;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene21537;QUAL=,159.54589770191004;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,75871735;RS_dbsnp_common_v150_hg19_refseq=,2131956;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,182;Read_coverage=,182;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_014000.2;Reverse_read_coverage=,61;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5000;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.258569|0.741431;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05032808030517053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.809091;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:7414|HGNC:HGNC:12665|MIM:193065;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:01900;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_014000.2|HPRD:01900;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,vinculin;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,VCL;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,VCL;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1W|CMH15|HEL114|MV|MVCL;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,vinculin|_transcript_variant_1;transcript_id=,NM_014000.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=VCL;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=VCL:NM_014000:exon19:c.C2814G:p.G938G;cytoBand=10q22.2;genomicSuperDups=.;esp6500siv2_all=0.7624;esp6500siv2_ea=0.7521;esp6500siv2_all=0.7624;esp6500siv2_ea=0.7521;1000g2015aug_all=0.623003;avsnp147=rs2131956;Kaviar_AF=0.656072;Kaviar_AC=101430;Kaviar_AN=154602;ExAC_ALL=0.6734;ExAC_AFR=0.7837;ExAC_AMR=0.5684;ExAC_EAS=0.3769;ExAC_FIN=0.6739;ExAC_NFE=0.7428;ExAC_OTH=0.7037;ExAC_SAS=0.5490;CLNALLELEID=54766;CLNDN=not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.2054;dpsi_zscore=-0.697;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.6698;gnomAD_exome_AFR=0.7803;gnomAD_exome_AMR=0.5817;gnomAD_exome_ASJ=0.8593;gnomAD_exome_EAS=0.3696;gnomAD_exome_FIN=0.6733;gnomAD_exome_NFE=0.7412;gnomAD_exome_OTH=0.7083;gnomAD_exome_SAS=0.5500;gnomAD_genome_ALL=0.7277;gnomAD_genome_AFR=0.7918;gnomAD_genome_AMR=0.6447;gnomAD_genome_ASJ=0.8676;gnomAD_genome_EAS=0.3861;gnomAD_genome_FIN=0.6712;gnomAD_genome_NFE=0.7447;gnomAD_genome_OTH=0.6857;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 1/1:145:0,145 1/1:237:0,237 1/1:199:0,199 1:201:0,88 1/1:182:0,182 1:227:0,115 1:211:0,112 1:227:0,115 1/1:212:0,212 1:210:0,91 1/1:244:0,244 1/1:221:0,221 1/1:237:0,236 1/1:256:0,256 1/1:334:0,333 1:251:0,101 1/1:264:0,264 1/1:232:0,232 1:229:0,129 1:216:0,102 1/1:209:0,208 . 1/1:341:0,341 1/1:291:0,291 1/1:234:0,234 1:170:0,81 1/1:219:0,219 1:300:0,129 1:309:0,133 1/1:252:0,252 1/1:259:0,259 1:174:0,103 1/1:271:0,271 1/1:184:0,184 1:265:0,141 1:208:0,99 1:182:0,81 1:181:0,88 1/1:185:0,185 1/1:260:0,260 1/1:226:0,226 . 10 88446830 4733;rs121908338 G A 114.70 . #_unique_end_positions=,15;#_unique_start_positions=,15;AC=2;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0227;AF_ESP_clinvar_20171029_hg19=,0.0068;AF_EXAC_clinvar_20171029_hg19=,0.00455;AF_TGP_clinvar_20171029_hg19=,0.0078;ALLELEID_clinvar_20171029_hg19=,19772;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0058;AN=2;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001073585.1:p.Asp117Asn|_NP_001165082.1:p.Asp232Asn|_NP_001165081.1:p.Asp232Asn|_NP_001073583.1:p.Asp117Asn;Amino_acid_change_in_longest_transcript=,NP_001165081.1:p.Asp232Asn;BaseQRankSum=,0.21;CAF_dbsnp_common_v150_hg19_refseq=,0.9922|0.007788|.;CLNDISDB_clinvar_20171029_hg19=,EFO:EFO_0000407|Human_Phenotype_Ontology:HP:0001644|MedGen:CN001497|MedGen:C1832244|OMIM:601493|MedGen:C1836155|OMIM:609452|Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN517202;CLNDN_clinvar_20171029_hg19=,Dilated_cardiomyopathy|Dilated_cardiomyopathy_1C|Myofibrillar_myopathy|_ZASP-related|not_specified|not_provided;CLNHGVS_clinvar_20171029_hg19=,NC_000010.10:g.88446830G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_conflicting_interpretations;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,OMIM_Allelic_Variant:605906.0007;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001080114.1:c.349G>A|_NM_001080115.1:c.690-4823G>A|_NM_001080116.1:c.349G>A|_NM_001171610.1:c.694G>A|_NM_001171611.1:c.694G>A|_NM_007078.2:c.690-4823G>A;Coding_region_change_in_longest_transcript=,NM_001171610.1:c.694G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0040;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,27;GENEINFO_dbsnp_common_v150_hg19_refseq=,LDB3:11155;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:11155;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:11155;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15710;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15710;Homo_sapiens_refseq_GRCh37.p13_Genes=,LDB3;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001171610.1|NM_001080116.1|NM_001171611.1|NM_001080114.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene21677;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna31071|rna31072|rna31075|rna31074;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant|SO:0001627|intron_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:605906;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:605906;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;OM_dbsnp_common_v150_hg19_refseq=,OM;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene21677;QUAL=,102.95445913192344;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,88446830;RS_dbsnp_common_v150_hg19_refseq=,121908338;Read_count=,19;Read_coverage=,45;Read_direction_test_probability=,0.9998262897604238;Read_position_test_probability=,0.6710182239755935;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001171610.1|NM_001080116.1|NM_001171611.1|NM_001080114.1;Reverse_read_coverage=,18;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;SF=0,20;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.989937|0.0100625|.;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050168080a05040436110100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.997;db_xref=,GeneID:11155|HGNC:HGNC:15710|MIM:605906;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001171610.1|Genbank:NM_001080116.1|Genbank:NM_001171611.1|Genbank:NM_001080114.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LIM_domain_binding_3;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LDB3;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,LDB3;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1C|CMH24|CMPD3|CYPHER|LDB3Z1|LDB3Z4|LVNC3|MFM4|ORACLE|PDLIM6|ZASP;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,LIM_domain_binding_3|_transcript_variant_5|LIM_domain_binding_3|_transcript_variant_4|LIM_domain_binding_3|_transcript_variant_6|LIM_domain_binding_3|_transcript_variant_2;transcript_id=,NM_001171610.1|NM_001080116.1|NM_001171611.1|NM_001080114.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LDB3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LDB3:NM_001080114:exon5:c.G349A:p.D117N,LDB3:NM_001080116:exon5:c.G349A:p.D117N,LDB3:NM_001171611:exon5:c.G694A:p.D232N,LDB3:NM_001171610:exon6:c.G694A:p.D232N;cytoBand=10q23.2;genomicSuperDups=.;esp6500siv2_all=0.0068;esp6500siv2_ea=0.0040;esp6500siv2_all=0.0068;esp6500siv2_ea=0.0040;1000g2015aug_all=0.00778754;avsnp147=rs121908338;Kaviar_AF=0.0042173;Kaviar_AC=652;Kaviar_AN=154602;ExAC_ALL=0.0046;ExAC_AFR=0.0154;ExAC_AMR=0.0047;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0043;ExAC_OTH=0.0078;ExAC_SAS=0.0031;CLNALLELEID=19772;CLNDN=Primary_dilated_cardiomyopathy|Dilated_cardiomyopathy_1C|Myofibrillar_myopathy,_ZASP-related|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:C1832244,OMIM:601493|MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.336;SIFT_pred=T;Polyphen2_HDIV_score=0.695;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.177;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=A;MutationAssessor_score=-0.345;MutationAssessor_pred=N;FATHMM_score=1.11;FATHMM_pred=T;PROVEAN_score=-0.88;PROVEAN_pred=N;VEST3_score=0.085;CADD_raw=3.591;CADD_phred=23.2;DANN_score=0.998;fathmm-MKL_coding_score=0.997;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.543;MetaSVM_pred=T;MetaLR_score=0.220;MetaLR_pred=T;integrated_fitCons_score=0.497;integrated_confidence_value=0;GERP++_RS=4.07;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.953;phastCons7way_vertebrate=0.905;phastCons20way_mammalian=0.995;SiPhy_29way_logOdds=14.523;GDI_full_10282015=.;dpsi_max_tissue=-0.8847;dpsi_zscore=-1.401;hgmdCODING=HGMD::Cardiomyopathy,_dilated#14662268;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM033941#"Cardiomyopathy_dilated";gnomAD_exome_ALL=0.0045;gnomAD_exome_AFR=0.0152;gnomAD_exome_AMR=0.0056;gnomAD_exome_ASJ=0.0104;gnomAD_exome_EAS=0;gnomAD_exome_FIN=4.485e-05;gnomAD_exome_NFE=0.0040;gnomAD_exome_OTH=0.0095;gnomAD_exome_SAS=0.0025;gnomAD_genome_ALL=0.0057;gnomAD_genome_AFR=0.0137;gnomAD_genome_AMR=0.0072;gnomAD_genome_ASJ=0.0099;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0009;gnomAD_genome_NFE=0.0029;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 1:41:0,16 . . . . . . . . . . . . . . . . . . . 1:60:0,22 . . . . . . . . . . . . . . . . . . . . . 10 88446985 43879;rs76615432 T C 200.00 . #_unique_end_positions=,41;#_unique_start_positions=,40;AC=2;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1498;AF_ESP_clinvar_20171029_hg19=,0.0730;AF_EXAC_clinvar_20171029_hg19=,0.04056;AF_TGP_clinvar_20171029_hg19=,0.0567;ALLELEID_clinvar_20171029_hg19=,53048;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0245;AN=2;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.02;CAF_dbsnp_common_v150_hg19_refseq=,0.9433|0.05671;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0011664|MedGen:C4021133|MedGen:C1836155|OMIM:609452|Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN239310|MedGen:CN239446;CLNDN_clinvar_20171029_hg19=,Left_ventricular_noncompaction_cardiomyopathy|Myofibrillar_myopathy|_ZASP-related|not_specified|Dilated_Cardiomyopathy|_Dominant|Myofibrillar_Myopathy|_Dominant;CLNHGVS_clinvar_20171029_hg19=,NC_000010.10:g.88446985T>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:48533;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001080114.1:c.504T>C|_NM_001080115.1:c.690-4668T>C|_NM_001080116.1:c.504T>C|_NM_001171610.1:c.849T>C|_NM_001171611.1:c.849T>C|_NM_007078.2:c.690-4668T>C;Coding_region_change_in_longest_transcript=,NM_001171610.1:c.849T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0050;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0288;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,78;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,LDB3:11155;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:11155;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:11155;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15710;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15710;Homo_sapiens_refseq_GRCh37.p13_Genes=,LDB3;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001171610.1|NM_001080116.1|NM_001171611.1|NM_001080114.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene21677;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna31071|rna31072|rna31075|rna31074;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001627|intron_variant|SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:605906;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:605906;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene21677;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,88446985;RS_dbsnp_common_v150_hg19_refseq=,76615432;Read_count=,64;Read_coverage=,144;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9357679356993698;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001171610.1|NM_001080116.1|NM_001171611.1|NM_001080114.1;Reverse_read_coverage=,66;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0358;SF=21,37;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.913559|0.0864414;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050168080305150436100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.992;db_xref=,GeneID:11155|HGNC:HGNC:15710|MIM:605906;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001171610.1|Genbank:NM_001080116.1|Genbank:NM_001171611.1|Genbank:NM_001080114.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LIM_domain_binding_3;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LDB3;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,LDB3;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1C|CMH24|CMPD3|CYPHER|LDB3Z1|LDB3Z4|LVNC3|MFM4|ORACLE|PDLIM6|ZASP;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,LIM_domain_binding_3|_transcript_variant_5|LIM_domain_binding_3|_transcript_variant_4|LIM_domain_binding_3|_transcript_variant_6|LIM_domain_binding_3|_transcript_variant_2;transcript_id=,NM_001171610.1|NM_001080116.1|NM_001171611.1|NM_001080114.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LDB3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LDB3:NM_001080114:exon5:c.T504C:p.D168D,LDB3:NM_001080116:exon5:c.T504C:p.D168D,LDB3:NM_001171611:exon5:c.T849C:p.D283D,LDB3:NM_001171610:exon6:c.T849C:p.D283D;cytoBand=10q23.2;genomicSuperDups=.;esp6500siv2_all=0.0730;esp6500siv2_ea=0.0407;esp6500siv2_all=0.0730;esp6500siv2_ea=0.0407;1000g2015aug_all=0.0567093;avsnp147=rs76615432;Kaviar_AF=0.0406657;Kaviar_AC=6287;Kaviar_AN=154602;ExAC_ALL=0.0406;ExAC_AFR=0.1414;ExAC_AMR=0.0216;ExAC_EAS=0.0031;ExAC_FIN=0.0316;ExAC_NFE=0.0361;ExAC_OTH=0.0576;ExAC_SAS=0.0339;CLNALLELEID=53048;CLNDN=Left_ventricular_noncompaction_cardiomyopathy|Myofibrillar_myopathy,_ZASP-related|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.4595;dpsi_zscore=1.090;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0393;gnomAD_exome_AFR=0.1436;gnomAD_exome_AMR=0.0240;gnomAD_exome_ASJ=0.0542;gnomAD_exome_EAS=0.0028;gnomAD_exome_FIN=0.0318;gnomAD_exome_NFE=0.0360;gnomAD_exome_OTH=0.0411;gnomAD_exome_SAS=0.0369;gnomAD_genome_ALL=0.0697;gnomAD_genome_AFR=0.1496;gnomAD_genome_AMR=0.0298;gnomAD_genome_ASJ=0.0364;gnomAD_genome_EAS=0.0019;gnomAD_genome_FIN=0.0366;gnomAD_genome_NFE=0.0414;gnomAD_genome_OTH=0.0662;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . 1:128:0,59 . . . . . . . . . . . . . . . 1:97:0,41 . . . . 10 88466465 36443;rs45459491 C T 200.00 . #_unique_end_positions=,37;#_unique_start_positions=,40;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0008;AF_ESP_clinvar_20171029_hg19=,0.0270;AF_EXAC_clinvar_20171029_hg19=,0.03957;AF_TGP_clinvar_20171029_hg19=,0.0202;ALLELEID_clinvar_20171029_hg19=,45106;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0159;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.07;CAF_dbsnp_common_v150_hg19_refseq=,0.9798|0.02017;CLNDISDB_clinvar_20171029_hg19=,MedGen:C0878544|Orphanet:ORPHA167848|SNOMED_CT:85898001|MedGen:C1836155|OMIM:609452|Orphanet:ORPHA98912|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Cardiomyopathy|Myofibrillar_myopathy|_ZASP-related|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000010.10:g.88466465C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001080114.1:c.756-3197C>T|_NM_001171610.1:c.1101-3197C>T|_NM_007078.2:c.1074C>T;Coding_region_change_in_longest_transcript=,NM_001171610.1:c.1101-3197C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0368;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,46;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,LDB3:11155;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:11155;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:11155;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15710;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15710;Homo_sapiens_refseq_GRCh37.p13_Genes=,LDB3;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_007078.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene21677;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna31073;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001627|intron_variant|SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:605906;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:605906;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene21677;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,88466465;RS_dbsnp_common_v150_hg19_refseq=,45459491;Read_count=,77;Read_coverage=,178;Read_direction_test_probability=,0.9702280117124246;Read_position_test_probability=,0.9685393175734811;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_007078.2;Reverse_read_coverage=,132;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0532;SF=3;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.976612|0.0233876;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05016808030515043e100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.004;db_xref=,GeneID:11155|HGNC:HGNC:15710|MIM:605906;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_007078.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LIM_domain_binding_3;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LDB3;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,LDB3;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1C|CMH24|CMPD3|CYPHER|LDB3Z1|LDB3Z4|LVNC3|MFM4|ORACLE|PDLIM6|ZASP;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,LIM_domain_binding_3|_transcript_variant_1;transcript_id=,NM_007078.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LDB3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LDB3:NM_007078:exon7:c.C1074T:p.A358A;cytoBand=10q23.2;genomicSuperDups=.;esp6500siv2_all=0.0270;esp6500siv2_ea=0.0369;esp6500siv2_all=0.0270;esp6500siv2_ea=0.0369;1000g2015aug_all=0.0201677;avsnp147=rs45459491;Kaviar_AF=0.0339388;Kaviar_AC=5247;Kaviar_AN=154602;ExAC_ALL=0.0396;ExAC_AFR=0.0051;ExAC_AMR=0.0139;ExAC_EAS=0.0006;ExAC_FIN=0.0319;ExAC_NFE=0.0489;ExAC_OTH=0.0294;ExAC_SAS=0.0615;CLNALLELEID=45106;CLNDN=Cardiomyopathy|Myofibrillar_myopathy,_ZASP-related|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.9279;dpsi_zscore=1.477;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0328;gnomAD_exome_AFR=0.0045;gnomAD_exome_AMR=0.0137;gnomAD_exome_ASJ=0.0112;gnomAD_exome_EAS=0.0005;gnomAD_exome_FIN=0.0278;gnomAD_exome_NFE=0.0442;gnomAD_exome_OTH=0.0333;gnomAD_exome_SAS=0.0558;gnomAD_genome_ALL=0.0306;gnomAD_genome_AFR=0.0079;gnomAD_genome_AMR=0.0179;gnomAD_genome_ASJ=0.0132;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0292;gnomAD_genome_NFE=0.0477;gnomAD_genome_OTH=0.0399;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . 1:164:0,72 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 10 88476505 45531 C T 200.00 . #_unique_end_positions=,55;#_unique_start_positions=,50;AC=1;AF_ESP_clinvar_20171029_hg19=,0.0005;AF_EXAC_clinvar_20171029_hg19=,0.00073;ALLELEID_clinvar_20171029_hg19=,54697;AN=1;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.12;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1836155|OMIM:609452|Orphanet:ORPHA98912|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Myofibrillar_myopathy|_ZASP-related|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000010.10:g.88476505C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;Coding_region_change=,NM_001080114.1:c.1323C>T|_NM_001171610.1:c.1668C>T|_NM_007078.2:c.1653C>T;Coding_region_change_in_longest_transcript=,NM_001171610.1:c.1668C>T;Exact_match=,clinvar_20171029_hg19;Forward_read_coverage=,61;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:11155;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:11155;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15710;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15710;Homo_sapiens_refseq_GRCh37.p13_Genes=,LDB3;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001171610.1|NM_007078.2|NM_001080114.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene21677;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna31071|rna31073|rna31074;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:605906;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:605906;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene21677;QUAL=,200.0;Read_count=,114;Read_coverage=,229;Read_direction_test_probability=,0.7677744993702342;Read_position_test_probability=,0.9474550399670397;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001171610.1|NM_007078.2|NM_001080114.1;Reverse_read_coverage=,168;SF=28;conservation_score=,0.956;db_xref=,GeneID:11155|HGNC:HGNC:15710|MIM:605906;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001171610.1|Genbank:NM_007078.2|Genbank:NM_001080114.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LIM_domain_binding_3;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LDB3;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,LDB3;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1C|CMH24|CMPD3|CYPHER|LDB3Z1|LDB3Z4|LVNC3|MFM4|ORACLE|PDLIM6|ZASP;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,LIM_domain_binding_3|_transcript_variant_5|LIM_domain_binding_3|_transcript_variant_1|LIM_domain_binding_3|_transcript_variant_2;transcript_id=,NM_001171610.1|NM_007078.2|NM_001080114.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LDB3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LDB3:NM_001080114:exon9:c.C1323T:p.C441C,LDB3:NM_007078:exon9:c.C1653T:p.C551C,LDB3:NM_001171610:exon10:c.C1668T:p.C556C;cytoBand=10q23.2;genomicSuperDups=.;esp6500siv2_all=0.0005;esp6500siv2_ea=0.0007;esp6500siv2_all=0.0005;esp6500siv2_ea=0.0007;1000g2015aug_all=.;avsnp147=rs45581435;Kaviar_AF=0.0004786;Kaviar_AC=74;Kaviar_AN=154602;ExAC_ALL=0.0007;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0.0002;ExAC_FIN=0.0014;ExAC_NFE=0.0012;ExAC_OTH=0.0015;ExAC_SAS=0;CLNALLELEID=54697;CLNDN=Myofibrillar_myopathy,_ZASP-related|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0289;dpsi_zscore=0.190;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0005;gnomAD_exome_AFR=0;gnomAD_exome_AMR=9.068e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=5.893e-05;gnomAD_exome_FIN=0.0007;gnomAD_exome_NFE=0.0009;gnomAD_exome_OTH=0.0009;gnomAD_exome_SAS=3.296e-05;gnomAD_genome_ALL=0.0028;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0023;gnomAD_genome_NFE=0.0051;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:213:0,107 . . . . . . . . . . . . . 10 101483827 . G A 200.00 . #_unique_end_positions=,40;#_unique_start_positions=,39;AC=1;AN=1;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.16;Coding_region_change=,NM_001320974.1:c.636C>T|_NM_001320975.1:c.636C>T|_NM_001320976.1:c.99C>T|_NM_004376.6:c.636C>T|_NM_078470.5:c.636C>T;Coding_region_change_in_longest_transcript=,NM_078470.5:c.636C>T;Forward_read_coverage=,56;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:1355;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:1355;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:2263;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:2263;Homo_sapiens_refseq_GRCh37.p13_Genes=,COX15;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001320974.1|NM_001320975.1|NM_004376.6|NM_001320976.1|NM_078470.5;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene21896;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna31485|rna31487|rna31488|rna31486|rna31489;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:603646;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:603646;Non-synonymous=,No;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene21896;QUAL=,200.0;Read_count=,63;Read_coverage=,116;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9653144423733401;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001320974.1|NM_001320975.1|NM_004376.6|NM_001320976.1|NM_078470.5;Reverse_read_coverage=,60;SF=14;conservation_score=,0.661;db_xref=,GeneID:1355|HGNC:HGNC:2263|MIM:603646;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:04707;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001320974.1|HPRD:04707|Genbank:NM_001320975.1|Genbank:NM_004376.6|Genbank:NM_001320976.1|Genbank:NM_078470.5;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,COX15|_cytochrome_c_oxidase_assembly_homolog;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,COX15;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,COX15;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CEMCOX2;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,COX15|_cytochrome_c_oxidase_assembly_homolog|_transcript_variant_5|COX15|_cytochrome_c_oxidase_assembly_homolog|_transcript_variant_3|COX15|_cytochrome_c_oxidase_assembly_homolog|_transcript_variant_2|COX15|_cytochrome_c_oxidase_assembly_homolog|_transcript_variant_4|COX15|_cytochrome_c_oxidase_assembly_homolog|_transcript_variant_1;transcript_id=,NM_001320974.1|NM_001320975.1|NM_004376.6|NM_001320976.1|NM_078470.5;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=COX15;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=COX15:NM_004376:exon5:c.C636T:p.S212S,COX15:NM_078470:exon5:c.C636T:p.S212S;cytoBand=10q24.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.5333;dpsi_zscore=-1.124;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . . . . . . . 1:99:0,53 . . . . . . . . . . . . . . . . . . . . . . . . . . . 10 112404302 44029;rs35141404 G A 156.87 . #_unique_end_positions=,15;#_unique_start_positions=,17;AC=16;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4206;AF_EXAC_clinvar_20171029_hg19=,0.15223;AF_TGP_clinvar_20171029_hg19=,0.2222;ALLELEID_clinvar_20171029_hg19=,53197;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1354;AN=16;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.52;CAF_dbsnp_common_v150_hg19_refseq=,0.7778|0.2222;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNDN_clinvar_20171029_hg19=,not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant;CLNHGVS_clinvar_20171029_hg19=,NC_000010.10:g.112404302G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:6301;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001134363.2:c.90G>A;Coding_region_change_in_longest_transcript=,NM_001134363.2:c.90G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1617;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1392;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,16;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,RBM20:282996;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:282996;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:282996;Genotype=,A/A;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:27424;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:27424;Homo_sapiens_refseq_GRCh37.p13_Genes=,RBM20;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001134363.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene22052;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna31758;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:613171;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:613171;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene22052;QUAL=,92.31849343415641;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,112404302;RS_dbsnp_common_v150_hg19_refseq=,35141404;Read_count=,28;Read_coverage=,28;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001134363.2;Reverse_read_coverage=,12;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1636;SF=4,6,10,13,15,16,19,22,26,27,28,30,34,39,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.756302|0.243698;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128000305170536000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.002;db_xref=,GeneID:282996|HGNC:HGNC:27424|MIM:613171;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001134363.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,RNA_binding_motif_protein_20;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,RBM20;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,RBM20;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,RNA_binding_motif_protein_20;transcript_id=,NM_001134363.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=RBM20;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=RBM20:NM_001134363:exon1:c.G90A:p.R30R;cytoBand=10q25.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.222244;avsnp147=rs35141404;Kaviar_AF=0.0450188;Kaviar_AC=6960;Kaviar_AN=154602;ExAC_ALL=0.1522;ExAC_AFR=0.436;ExAC_AMR=0.1694;ExAC_EAS=0.1449;ExAC_FIN=0.4;ExAC_NFE=0.1372;ExAC_OTH=0.1271;ExAC_SAS=0.1378;CLNALLELEID=53197;CLNDN=not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1426;gnomAD_exome_AFR=0.4067;gnomAD_exome_AMR=0.1037;gnomAD_exome_ASJ=0.1038;gnomAD_exome_EAS=0.1679;gnomAD_exome_FIN=0.1014;gnomAD_exome_NFE=0.1492;gnomAD_exome_OTH=0.1461;gnomAD_exome_SAS=0.1457;gnomAD_genome_ALL=0.2008;gnomAD_genome_AFR=0.3736;gnomAD_genome_AMR=0.1175;gnomAD_genome_ASJ=0.12;gnomAD_genome_EAS=0.1576;gnomAD_genome_FIN=0.0999;gnomAD_genome_NFE=0.1394;gnomAD_genome_OTH=0.1340;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 . . . . 1/1:21:0,21 . 1:50:0,39 . . . 1:104:0,58 . . 1:52:0,26 . 1:128:0,75 1:118:0,78 . . 1:107:0,62 . . 1:93:0,69 . . . 1:49:0,28 1:112:0,60 1:85:0,61 . 1:93:0,54 . . . 1:111:0,69 . . . . 1:85:0,50 . 1:53:0,30 10 112540884 44020;rs7908490 C A 200.00 . #_unique_end_positions=,40;#_unique_start_positions=,32;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0976;AF_ESP_clinvar_20171029_hg19=,0.0215;AF_EXAC_clinvar_20171029_hg19=,0.00727;AF_TGP_clinvar_20171029_hg19=,0.0270;ALLELEID_clinvar_20171029_hg19=,53188;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0086;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001127835.2:p.Pro173Thr;Amino_acid_change_in_longest_transcript=,NP_001127835.2:p.Pro173Thr;BaseQRankSum=,-0.39;CAF_dbsnp_common_v150_hg19_refseq=,0.973|0.02696;CLNDISDB_clinvar_20171029_hg19=,MedGen:C2750995|OMIM:613172|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNDN_clinvar_20171029_hg19=,Dilated_cardiomyopathy_1DD|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant;CLNHGVS_clinvar_20171029_hg19=,NC_000010.10:g.112540884C>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:480313;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001134363.2:c.517C>A;Coding_region_change_in_longest_transcript=,NM_001134363.2:c.517C>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,86;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,RBM20:282996;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:282996;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:282996;Genotype=,A/C;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:27424;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:27424;Homo_sapiens_refseq_GRCh37.p13_Genes=,RBM20;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001134363.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene22052;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna31758;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:613171;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:613171;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene22052;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,112540884;RS_dbsnp_common_v150_hg19_refseq=,7908490;Read_count=,60;Read_coverage=,137;Read_direction_test_probability=,0.9619509947375083;Read_position_test_probability=,0.6371680528027424;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001134363.2;Reverse_read_coverage=,51;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=4;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.964764|0.0352359;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050028000a05150537000101;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.0918367;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0045045;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0116279;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0117647;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.0666667;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.0306122;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.0454545;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.1;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.087;db_xref=,GeneID:282996|HGNC:HGNC:27424|MIM:613171;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001134363.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,RNA_binding_motif_protein_20;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,RBM20;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,RBM20;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,RNA_binding_motif_protein_20;transcript_id=,NM_001134363.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=RBM20;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=RBM20:NM_001134363:exon2:c.C517A:p.P173T;cytoBand=10q25.2;genomicSuperDups=.;esp6500siv2_all=0.0215;esp6500siv2_ea=.;esp6500siv2_all=0.0215;esp6500siv2_ea=.;1000g2015aug_all=0.0269569;avsnp147=rs7908490;Kaviar_AF=0.0024967;Kaviar_AC=386;Kaviar_AN=154602;ExAC_ALL=0.0073;ExAC_AFR=0.0700;ExAC_AMR=0.0025;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0001;ExAC_OTH=0;ExAC_SAS=0.0003;CLNALLELEID=53188;CLNDN=Dilated_cardiomyopathy_1DD|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C2750995,OMIM:613172|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.133;SIFT_pred=T;Polyphen2_HDIV_score=0.296;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.027;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0.345;MutationAssessor_pred=N;FATHMM_score=-2.54;FATHMM_pred=D;PROVEAN_score=-0.99;PROVEAN_pred=N;VEST3_score=0.04;CADD_raw=0.554;CADD_phred=7.834;DANN_score=0.990;fathmm-MKL_coding_score=0.206;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.939;MetaSVM_pred=T;MetaLR_score=0.033;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=1.54;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.009;phastCons7way_vertebrate=0.442;phastCons20way_mammalian=0.331;SiPhy_29way_logOdds=0.425;GDI_full_10282015=.;dpsi_max_tissue=0.0204;dpsi_zscore=0.138;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0050;gnomAD_exome_AFR=0.0793;gnomAD_exome_AMR=0.0047;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0003;gnomAD_exome_OTH=0.0028;gnomAD_exome_SAS=0.0002;gnomAD_genome_ALL=0.0230;gnomAD_genome_AFR=0.0800;gnomAD_genome_AMR=0.0095;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0002;gnomAD_genome_OTH=0.0031;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 . . . . 1:130:0,56 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 10 112572458 138901;rs1417635 G C 189.97 . #_unique_end_positions=,66;#_unique_start_positions=,64;AC=84;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9690;ALLELEID_clinvar_20171029_hg19=,142604;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9942;AN=84;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001127835.2:p.Trp768Ser;Amino_acid_change_in_longest_transcript=,NP_001127835.2:p.Trp768Ser;CAF_dbsnp_common_v150_hg19_refseq=,0.003794|0.991|0.005192;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNDN_clinvar_20171029_hg19=,not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant;CLNHGVS_clinvar_20171029_hg19=,NC_000010.10:g.112572458G>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:6291;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001134363.2:c.2303G>C;Coding_region_change_in_longest_transcript=,NM_001134363.2:c.2303G>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,1.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,1.0000;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,63;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,RBM20:282996;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:282996;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:282996;Genotype=,C/C;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:27424;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:27424;Homo_sapiens_refseq_GRCh37.p13_Genes=,RBM20;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001134363.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene22052;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna31758;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant|SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:613171;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:613171;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene22052;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,112572458;RS_dbsnp_common_v150_hg19_refseq=,1417635;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,165;Read_coverage=,165;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001134363.2;Reverse_read_coverage=,102;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,1.0000;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050168000a0505053f100100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,1;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,1;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,1;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,1;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.001;db_xref=,GeneID:282996|HGNC:HGNC:27424|MIM:613171;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001134363.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,RNA_binding_motif_protein_20;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,RBM20;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,RBM20;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,RNA_binding_motif_protein_20;transcript_id=,NM_001134363.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=RBM20;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=RBM20:NM_001134363:exon9:c.G2303C:p.W768S;cytoBand=10q25.2;genomicSuperDups=.;esp6500siv2_all=0.9936;esp6500siv2_ea=0.9994;esp6500siv2_all=0.9936;esp6500siv2_ea=0.9994;1000g2015aug_all=0.991014;avsnp147=rs1417635;Kaviar_AF=0.31257;Kaviar_AC=48324;Kaviar_AN=154602;ExAC_ALL=0.9968;ExAC_AFR=0.9697;ExAC_AMR=0.9951;ExAC_EAS=0.9984;ExAC_FIN=1;ExAC_NFE=0.9998;ExAC_OTH=1;ExAC_SAS=1;CLNALLELEID=142604;CLNDN=Dilated_cardiomyopathy_1DD|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C2750995,OMIM:613172|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.2073;dpsi_zscore=0.737;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.9982;gnomAD_exome_AFR=0.9721;gnomAD_exome_AMR=0.9982;gnomAD_exome_ASJ=1;gnomAD_exome_EAS=0.9999;gnomAD_exome_FIN=0.9998;gnomAD_exome_NFE=0.9997;gnomAD_exome_OTH=0.9992;gnomAD_exome_SAS=1;gnomAD_genome_ALL=0.9919;gnomAD_genome_AFR=0.9720;gnomAD_genome_AMR=0.9976;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=1;gnomAD_genome_FIN=1;gnomAD_genome_NFE=0.9997;gnomAD_genome_OTH=0.9990;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 1/1:129:0,129 1/1:155:0,155 1/1:148:0,148 1/1:181:0,181 1/1:141:0,141 1/1:152:0,152 1/1:119:0,119 1/1:143:0,143 1/1:137:0,137 1/1:184:0,184 1/1:204:0,204 1/1:139:0,139 1/1:194:0,194 1/1:177:0,177 1/1:211:0,210 1/1:180:0,180 1/1:186:0,186 1/1:155:0,155 1/1:174:0,174 1/1:139:0,139 1/1:122:0,122 1/1:221:0,221 1/1:202:0,202 1/1:193:0,193 1/1:232:0,232 1/1:140:0,140 1/1:165:0,165 1/1:194:0,194 1/1:225:0,225 1/1:230:0,228 1/1:197:0,197 1/1:118:0,118 1/1:150:0,150 1/1:135:0,135 1/1:144:0,144 1/1:151:0,151 1/1:142:0,142 1/1:103:0,103 1/1:146:0,146 1/1:173:0,173 1/1:182:0,182 1/1:129:0,129 10 112579854 . A G 123.67 . #_unique_end_positions=,17;#_unique_start_positions=,12;AC=1;AN=1;Amino_acid_change=,NP_001127835.2:p.Met859Val;Amino_acid_change_in_longest_transcript=,NP_001127835.2:p.Met859Val;BaseQRankSum=,0.22;Coding_region_change=,NM_001134363.2:c.2575A>G;Coding_region_change_in_longest_transcript=,NM_001134363.2:c.2575A>G;Forward_read_coverage=,33;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:282996;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:282996;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:27424;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:27424;Homo_sapiens_refseq_GRCh37.p13_Genes=,RBM20;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001134363.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene22052;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna31758;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:613171;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:613171;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene22052;QUAL=,123.66878805172092;Read_count=,22;Read_coverage=,51;Read_direction_test_probability=,0.7654110574042075;Read_position_test_probability=,0.8460042158367005;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001134363.2;Reverse_read_coverage=,18;SF=18;conservation_score=,0.004;db_xref=,GeneID:282996|HGNC:HGNC:27424|MIM:613171;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001134363.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,RNA_binding_motif_protein_20;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,RBM20;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,RBM20;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,RNA_binding_motif_protein_20;transcript_id=,NM_001134363.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=RBM20;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=RBM20:NM_001134363:exon10:c.A2575G:p.M859V;cytoBand=10q25.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.24;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.024;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=1.355;MutationAssessor_pred=L;FATHMM_score=-0.86;FATHMM_pred=T;PROVEAN_score=-0.5;PROVEAN_pred=N;VEST3_score=0.098;CADD_raw=-2.871;CADD_phred=0.001;DANN_score=0.544;fathmm-MKL_coding_score=0.058;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.953;MetaSVM_pred=T;MetaLR_score=0.193;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=-10.8;phyloP7way_vertebrate=0.042;phyloP20way_mammalian=-4.365;phastCons7way_vertebrate=0.587;phastCons20way_mammalian=0.062;SiPhy_29way_logOdds=0.755;GDI_full_10282015=.;dpsi_max_tissue=1.3326;dpsi_zscore=1.700;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . 1:43:0,18 . . . . . . . . . . . . . . . . . . . . . . . 10 112583301 . A G 126.71 . #_unique_end_positions=,23;#_unique_start_positions=,22;AC=1;AN=1;Amino_acid_change=,NP_001127835.2:p.Glu1127Gly;Amino_acid_change_in_longest_transcript=,NP_001127835.2:p.Glu1127Gly;BaseQRankSum=,0.0;Coding_region_change=,NM_001134363.2:c.3380A>G;Coding_region_change_in_longest_transcript=,NM_001134363.2:c.3380A>G;Forward_read_coverage=,21;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:282996;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:282996;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:27424;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:27424;Homo_sapiens_refseq_GRCh37.p13_Genes=,RBM20;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001134363.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene22052;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna31758;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:613171;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:613171;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene22052;QUAL=,126.70836386858477;Read_count=,27;Read_coverage=,46;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9686512387101589;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001134363.2;Reverse_read_coverage=,25;SF=35;conservation_score=,1.0;db_xref=,GeneID:282996|HGNC:HGNC:27424|MIM:613171;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001134363.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,RNA_binding_motif_protein_20;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,RBM20;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,RBM20;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,RNA_binding_motif_protein_20;transcript_id=,NM_001134363.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=RBM20;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=RBM20:NM_001134363:exon12:c.A3380G:p.E1127G;cytoBand=10q25.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.001;SIFT_pred=D;Polyphen2_HDIV_score=0.993;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.838;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_pred=.;MutationTaster_score=0.998;MutationTaster_pred=D;MutationAssessor_score=1.355;MutationAssessor_pred=L;FATHMM_score=-0.94;FATHMM_pred=T;PROVEAN_score=-2.66;PROVEAN_pred=D;VEST3_score=0.751;CADD_raw=6.810;CADD_phred=32;DANN_score=0.999;fathmm-MKL_coding_score=0.797;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.074;MetaSVM_pred=T;MetaLR_score=0.457;MetaLR_pred=T;integrated_fitCons_score=0.560;integrated_confidence_value=0;GERP++_RS=6.16;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.199;phastCons7way_vertebrate=0.953;phastCons20way_mammalian=0.998;SiPhy_29way_logOdds=16.806;GDI_full_10282015=.;dpsi_max_tissue=-1.0641;dpsi_zscore=-1.508;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=7 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:46:0,27 . . . . . . 10 112595719 44016;rs942077 G C 145.24 . #_unique_end_positions=,26;#_unique_start_positions=,29;AC=75;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4334;ALLELEID_clinvar_20171029_hg19=,53184;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7983;AN=75;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001127835.2:p.Glu1223Gln;Amino_acid_change_in_longest_transcript=,NP_001127835.2:p.Glu1223Gln;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.3029|.|0.6971;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNDN_clinvar_20171029_hg19=,not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant;CLNHGVS_clinvar_20171029_hg19=,NC_000010.10:g.112595719G>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:6307;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001134363.2:c.3667G>C;Coding_region_change_in_longest_transcript=,NM_001134363.2:c.3667G>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7956;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.8688;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,18;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,RBM20:282996;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:282996;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:282996;Genotype=,C/C;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:27424;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:27424;Homo_sapiens_refseq_GRCh37.p13_Genes=,RBM20;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001134363.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene22052;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna31758;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:613171;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:613171;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene22052;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,112595719;RS_dbsnp_common_v150_hg19_refseq=,942077;Read_count=,47;Read_coverage=,47;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001134363.2;Reverse_read_coverage=,29;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7035;SF=0,1,2,3,4,5,6,7,8,9,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.313826|.|0.686174;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128000a0515053f000101;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.561224;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.902655;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.829268;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.782353;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.732955;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.813953;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.72093;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.366667;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.83;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.355634;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.789773;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.393805;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.981;db_xref=,GeneID:282996|HGNC:HGNC:27424|MIM:613171;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001134363.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,RNA_binding_motif_protein_20;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,RBM20;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,RBM20;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,RNA_binding_motif_protein_20;transcript_id=,NM_001134363.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=RBM20;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=RBM20:NM_001134363:exon14:c.G3667C:p.E1223Q;cytoBand=10q25.2;genomicSuperDups=.;esp6500siv2_all=0.7584;esp6500siv2_ea=0.8724;esp6500siv2_all=0.7584;esp6500siv2_ea=0.8724;1000g2015aug_all=0.697085;avsnp147=rs942077;Kaviar_AF=0.0048447;Kaviar_AC=749;Kaviar_AN=154602;ExAC_ALL=0.7637;ExAC_AFR=0.4845;ExAC_AMR=0.8094;ExAC_EAS=0.7935;ExAC_FIN=0.9118;ExAC_NFE=0.8681;ExAC_OTH=0.7935;ExAC_SAS=0.7206;CLNALLELEID=53184;CLNDN=Dilated_cardiomyopathy_1DD|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C2750995,OMIM:613172|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.007;SIFT_pred=D;Polyphen2_HDIV_score=0.834;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.322;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.027;MutationTaster_pred=P;MutationAssessor_score=1.245;MutationAssessor_pred=L;FATHMM_score=-2.99;FATHMM_pred=D;PROVEAN_score=-0.72;PROVEAN_pred=N;VEST3_score=0.087;CADD_raw=5.504;CADD_phred=26.3;DANN_score=0.997;fathmm-MKL_coding_score=0.983;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.917;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.17;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.979;phastCons20way_mammalian=0.433;SiPhy_29way_logOdds=17.448;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.8024;gnomAD_exome_AFR=0.4687;gnomAD_exome_AMR=0.7846;gnomAD_exome_ASJ=0.8473;gnomAD_exome_EAS=0.8006;gnomAD_exome_FIN=0.8629;gnomAD_exome_NFE=0.8665;gnomAD_exome_OTH=0.8161;gnomAD_exome_SAS=0.7186;gnomAD_genome_ALL=0.7555;gnomAD_genome_AFR=0.4870;gnomAD_genome_AMR=0.7912;gnomAD_genome_ASJ=0.8444;gnomAD_genome_EAS=0.7874;gnomAD_genome_FIN=0.8569;gnomAD_genome_NFE=0.8760;gnomAD_genome_OTH=0.8252;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-3 GT:DP:CLCAD2 1/1:42:0,42 1/1:49:0,49 1/1:32:0,32 1/1:39:0,39 1/1:43:0,43 1:39:0,21 1/1:26:0,26 1/1:42:0,42 1/1:34:0,34 1:30:0,18 . 1:38:0,17 1/1:42:0,42 1/1:36:0,36 1/1:65:0,65 1/1:34:0,34 1/1:42:0,42 1/1:40:0,40 1/1:37:0,37 1/1:27:0,27 1/1:38:0,38 1:40:0,17 1/1:55:0,55 1/1:44:0,44 1/1:43:0,43 1/1:27:0,27 1/1:40:0,40 1/1:28:0,28 1/1:45:0,45 1/1:51:0,51 1/1:46:0,46 1/1:26:0,26 1/1:42:0,42 1/1:29:0,29 1/1:40:0,40 1/1:30:0,30 1/1:24:0,24 1:38:0,15 1/1:22:0,22 1/1:42:0,42 1:51:0,23 1:33:0,17 10 121429633 44783;rs2234962 T C 200.00 . #_unique_end_positions=,50;#_unique_start_positions=,42;AC=12;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0106;AF_ESP_clinvar_20171029_hg19=,0.1511;AF_EXAC_clinvar_20171029_hg19=,0.17674;AF_TGP_clinvar_20171029_hg19=,0.0965;ALLELEID_clinvar_20171029_hg19=,53950;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1037;AN=12;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_004272.2:p.Cys151Arg;Amino_acid_change_in_longest_transcript=,NP_004272.2:p.Cys151Arg;BaseQRankSum=,-0.21;CAF_dbsnp_common_v150_hg19_refseq=,0.9036|0.09645;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446;CLNDN_clinvar_20171029_hg19=,not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Myofibrillar_Myopathy|_Dominant;CLNHGVS_clinvar_20171029_hg19=,NC_000010.10:g.121429633T>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,HGMD:CM1111343|Illumina_Clinical_Services_Laboratory|Illumina:6358|UniProtKB_(protein):O95817#VAR_048345;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_004281.3:c.451T>C;Coding_region_change_in_longest_transcript=,NM_004281.3:c.451T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0020;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2187;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,113;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,BAG3:9531;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:9531;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:9531;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:939;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:939;Homo_sapiens_refseq_GRCh37.p13_Genes=,BAG3;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_004281.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene22155;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna31965;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:603883;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:603883;MTP_dbsnp_common_v150_hg19_refseq=,MTP;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene22155;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,121429633;RS_dbsnp_common_v150_hg19_refseq=,2234962;Read_count=,99;Read_coverage=,233;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9802740989519722;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_004281.3;Reverse_read_coverage=,120;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1789;SF=0,10,11,15,16,20,22,26,28,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.879525|0.120475;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128000a0515053f020100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.208333;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0111111;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.00833333;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.975;db_xref=,GeneID:9531|HGNC:HGNC:939|MIM:603883;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:04860;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_004281.3|HPRD:04860;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,BCL2_associated_athanogene_3;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,BAG3;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,BAG3;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,BAG-3|BIS|CAIR-1|MFM6;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,BCL2_associated_athanogene_3;transcript_id=,NM_004281.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=BAG3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=BAG3:NM_004281:exon2:c.T451C:p.C151R;cytoBand=10q26.11;genomicSuperDups=.;esp6500siv2_all=0.1511;esp6500siv2_ea=0.2073;esp6500siv2_all=0.1511;esp6500siv2_ea=0.2073;1000g2015aug_all=0.0964457;avsnp147=rs2234962;Kaviar_AF=0.174092;Kaviar_AC=26915;Kaviar_AN=154602;ExAC_ALL=0.1767;ExAC_AFR=0.0386;ExAC_AMR=0.0953;ExAC_EAS=0.0012;ExAC_FIN=0.2257;ExAC_NFE=0.2214;ExAC_OTH=0.1919;ExAC_SAS=0.2109;CLNALLELEID=53950;CLNDN=not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.044;SIFT_pred=D;Polyphen2_HDIV_score=0.664;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.317;Polyphen2_HVAR_pred=B;LRT_score=0.254;LRT_pred=N;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=0.695;MutationAssessor_pred=N;FATHMM_score=-1.02;FATHMM_pred=T;PROVEAN_score=-1.74;PROVEAN_pred=N;VEST3_score=0.289;CADD_raw=4.176;CADD_phred=23.8;DANN_score=0.986;fathmm-MKL_coding_score=0.807;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.099;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.834;integrated_confidence_value=0;GERP++_RS=0.064;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=0.123;phastCons7way_vertebrate=0.994;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=5.413;GDI_full_10282015=.;dpsi_max_tissue=0.0805;dpsi_zscore=0.420;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM1111343#"Cardiomyopathy_dilated_reduced_risk";gnomAD_exome_ALL=0.1743;gnomAD_exome_AFR=0.0359;gnomAD_exome_AMR=0.0996;gnomAD_exome_ASJ=0.2201;gnomAD_exome_EAS=0.0011;gnomAD_exome_FIN=0.2273;gnomAD_exome_NFE=0.2177;gnomAD_exome_OTH=0.1811;gnomAD_exome_SAS=0.2103;gnomAD_genome_ALL=0.1475;gnomAD_genome_AFR=0.0370;gnomAD_genome_AMR=0.1098;gnomAD_genome_ASJ=0.2067;gnomAD_genome_EAS=0.0031;gnomAD_genome_FIN=0.2334;gnomAD_genome_NFE=0.2062;gnomAD_genome_OTH=0.1803;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-10 GT:DP:CLCAD2 1:193:0,84 . . . . . . . . . 1/1:247:0,247 1:282:0,147 . . . 1:286:0,147 1:295:0,128 . . . 1:182:0,72 . 1:375:0,175 . . . 1:252:0,121 . 1:344:0,180 . . . . . . . . . . . 1:276:0,147 1:201:0,86 10 121436068 44774;rs3858339 T G 200.00 . #_unique_end_positions=,36;#_unique_start_positions=,28;AC=6;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1664;AF_ESP_clinvar_20171029_hg19=,0.1161;AF_EXAC_clinvar_20171029_hg19=,0.11440;AF_TGP_clinvar_20171029_hg19=,0.1558;ALLELEID_clinvar_20171029_hg19=,53941;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1744;AN=6;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.31;CAF_dbsnp_common_v150_hg19_refseq=,0.8442|0.1558;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446;CLNDN_clinvar_20171029_hg19=,not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Myofibrillar_Myopathy|_Dominant;CLNHGVS_clinvar_20171029_hg19=,NC_000010.10:g.121436068T>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:6383;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_004281.3:c.1002T>G;Coding_region_change_in_longest_transcript=,NM_004281.3:c.1002T>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2540;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0964;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,74;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,BAG3:9531;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:9531;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:9531;Genotype=,G/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:939;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:939;Homo_sapiens_refseq_GRCh37.p13_Genes=,BAG3;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_004281.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene22155;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna31965;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:603883;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:603883;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene22155;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,121436068;RS_dbsnp_common_v150_hg19_refseq=,3858339;Read_count=,56;Read_coverage=,122;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9070844607580459;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_004281.3;Reverse_read_coverage=,48;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0879;SF=1,8,12,36,39,40;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.864139|0.135861;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05012800030517053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.153061;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.079646;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.256098;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.217647;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.0625;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.209302;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.261628;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.116667;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.13;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.102113;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.107955;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.225664;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.988;db_xref=,GeneID:9531|HGNC:HGNC:939|MIM:603883;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:04860;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_004281.3|HPRD:04860;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,BCL2_associated_athanogene_3;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,BAG3;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,BAG3;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,BAG-3|BIS|CAIR-1|MFM6;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,BCL2_associated_athanogene_3;transcript_id=,NM_004281.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=BAG3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=BAG3:NM_004281:exon4:c.T1002G:p.P334P;cytoBand=10q26.11;genomicSuperDups=.;esp6500siv2_all=0.1161;esp6500siv2_ea=0.0881;esp6500siv2_all=0.1161;esp6500siv2_ea=0.0881;1000g2015aug_all=0.155751;avsnp147=rs3858339;Kaviar_AF=0.110755;Kaviar_AC=17123;Kaviar_AN=154602;ExAC_ALL=0.1144;ExAC_AFR=0.1654;ExAC_AMR=0.1793;ExAC_EAS=0.2703;ExAC_FIN=0.1030;ExAC_NFE=0.0846;ExAC_OTH=0.1355;ExAC_SAS=0.0793;CLNALLELEID=53941;CLNDN=Myofibrillar_myopathy,_BAG3-related|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant|not_provided;CLNDISDB=MedGen:C2751831,OMIM:612954,Orphanet:ORPHA199340|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1172;gnomAD_exome_AFR=0.1678;gnomAD_exome_AMR=0.1757;gnomAD_exome_ASJ=0.0766;gnomAD_exome_EAS=0.2677;gnomAD_exome_FIN=0.1064;gnomAD_exome_NFE=0.0861;gnomAD_exome_OTH=0.1055;gnomAD_exome_SAS=0.0791;gnomAD_genome_ALL=0.1259;gnomAD_genome_AFR=0.1644;gnomAD_genome_AMR=0.1615;gnomAD_genome_ASJ=0.0828;gnomAD_genome_EAS=0.2559;gnomAD_genome_FIN=0.0997;gnomAD_genome_NFE=0.0958;gnomAD_genome_OTH=0.1069;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-10 GT:DP:CLCAD2 . 1:102:0,46 . . . . . . 1:121:0,55 . . . 1:151:0,73 . . . . . . . . . . . . . . . . . . . . . . . 1:131:0,74 . . 1:102:0,47 1:149:0,79 . 10 121436286 44776;rs3858340 C T 200.00 . #_unique_end_positions=,37;#_unique_start_positions=,40;AC=6;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1664;AF_ESP_clinvar_20171029_hg19=,0.1157;AF_EXAC_clinvar_20171029_hg19=,0.11406;AF_TGP_clinvar_20171029_hg19=,0.1556;ALLELEID_clinvar_20171029_hg19=,53943;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1744;AN=6;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_004272.2:p.Pro407Leu;Amino_acid_change_in_longest_transcript=,NP_004272.2:p.Pro407Leu;BaseQRankSum=,-0.42;CAF_dbsnp_common_v150_hg19_refseq=,0.8444|0.1556;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446;CLNDN_clinvar_20171029_hg19=,not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Myofibrillar_Myopathy|_Dominant;CLNHGVS_clinvar_20171029_hg19=,NC_000010.10:g.121436286C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,HGMD:CM1111345|Illumina_Clinical_Services_Laboratory|Illumina:6428|UniProtKB_(protein):O95817#VAR_048347;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_004281.3:c.1220C>T;Coding_region_change_in_longest_transcript=,NM_004281.3:c.1220C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2530;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0964;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,102;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,BAG3:9531;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:9531;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:9531;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:939;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:939;Homo_sapiens_refseq_GRCh37.p13_Genes=,BAG3;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_004281.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene22155;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna31965;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:603883;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:603883;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene22155;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,121436286;RS_dbsnp_common_v150_hg19_refseq=,3858340;Read_count=,68;Read_coverage=,155;Read_direction_test_probability=,0.9018197973346944;Read_position_test_probability=,0.9647660841501917;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_004281.3;Reverse_read_coverage=,53;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0879;SF=1,8,12,36,39,40;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.864139|0.135861;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128000a0517053f000101;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.153061;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0833333;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.256098;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.217647;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.0625;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.233333;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.277778;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.116667;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.132653;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.0979021;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.107955;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.316667;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.224;db_xref=,GeneID:9531|HGNC:HGNC:939|MIM:603883;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:04860;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_004281.3|HPRD:04860;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,BCL2_associated_athanogene_3;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,BAG3;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,BAG3;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,BAG-3|BIS|CAIR-1|MFM6;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,BCL2_associated_athanogene_3;transcript_id=,NM_004281.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=BAG3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=BAG3:NM_004281:exon4:c.C1220T:p.P407L;cytoBand=10q26.11;genomicSuperDups=.;esp6500siv2_all=0.1157;esp6500siv2_ea=0.0877;esp6500siv2_all=0.1157;esp6500siv2_ea=0.0877;1000g2015aug_all=0.155551;avsnp147=rs3858340;Kaviar_AF=0.112547;Kaviar_AC=17400;Kaviar_AN=154602;ExAC_ALL=0.1141;ExAC_AFR=0.1649;ExAC_AMR=0.1789;ExAC_EAS=0.2691;ExAC_FIN=0.1030;ExAC_NFE=0.0844;ExAC_OTH=0.1361;ExAC_SAS=0.0786;CLNALLELEID=53943;CLNDN=Myofibrillar_myopathy,_BAG3-related|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant|not_provided;CLNDISDB=MedGen:C2751831,OMIM:612954,Orphanet:ORPHA199340|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.016;SIFT_pred=D;Polyphen2_HDIV_score=0.191;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.1;Polyphen2_HVAR_pred=B;LRT_score=0.279;LRT_pred=N;MutationTaster_score=0.226;MutationTaster_pred=P;MutationAssessor_score=0.895;MutationAssessor_pred=L;FATHMM_score=-0.21;FATHMM_pred=T;PROVEAN_score=-3.5;PROVEAN_pred=D;VEST3_score=0.068;CADD_raw=3.244;CADD_phred=22.8;DANN_score=0.990;fathmm-MKL_coding_score=0.738;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.093;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=5.73;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.001;phastCons20way_mammalian=0.064;SiPhy_29way_logOdds=20.260;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM1111345#"Cardiomyopathy_dilated_increased_risk";gnomAD_exome_ALL=0.1169;gnomAD_exome_AFR=0.1675;gnomAD_exome_AMR=0.1753;gnomAD_exome_ASJ=0.0764;gnomAD_exome_EAS=0.2675;gnomAD_exome_FIN=0.1064;gnomAD_exome_NFE=0.0860;gnomAD_exome_OTH=0.1055;gnomAD_exome_SAS=0.0786;gnomAD_genome_ALL=0.1263;gnomAD_genome_AFR=0.1648;gnomAD_genome_AMR=0.1635;gnomAD_genome_ASJ=0.0828;gnomAD_genome_EAS=0.2584;gnomAD_genome_FIN=0.0997;gnomAD_genome_NFE=0.0960;gnomAD_genome_OTH=0.1069;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-10 GT:DP:CLCAD2 . 1:142:0,61 . . . . . . 1:202:0,107 . . . 1:217:0,108 . . . . . . . . . . . . . . . . . . . . . . . 1:158:0,87 . . 1:199:0,102 1:194:0,87 . 10 121436362 44777;rs196295 A G 191.50 . #_unique_end_positions=,69;#_unique_start_positions=,59;AC=62;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7534;ALLELEID_clinvar_20171029_hg19=,53944;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7219;AN=62;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.41;CAF_dbsnp_common_v150_hg19_refseq=,0.2935|0.7065;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446;CLNDN_clinvar_20171029_hg19=,not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Myofibrillar_Myopathy|_Dominant;CLNHGVS_clinvar_20171029_hg19=,NC_000010.10:g.121436362A>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:6352;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_004281.3:c.1296A>G;Coding_region_change_in_longest_transcript=,NM_004281.3:c.1296A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4881;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.8012;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,78;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,BAG3:9531;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:9531;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:9531;Genotype=,G/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:939;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:939;Homo_sapiens_refseq_GRCh37.p13_Genes=,BAG3;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_004281.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene22155;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna31965;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:603883;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:603883;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene22155;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,121436362;RS_dbsnp_common_v150_hg19_refseq=,196295;Read_count=,146;Read_coverage=,146;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_004281.3;Reverse_read_coverage=,68;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7597;SF=0,1,2,3,5,6,7,8,9,10,11,12,13,14,15,16,17,19,20,21,22,23,24,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.254516|0.745484;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05032800030517053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.739583;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.785714;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.5;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.505882;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.721591;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.547619;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.47093;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.683333;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.78;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.657343;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.818182;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.775229;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.999;db_xref=,GeneID:9531|HGNC:HGNC:939|MIM:603883;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:04860;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_004281.3|HPRD:04860;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,BCL2_associated_athanogene_3;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,BAG3;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,BAG3;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,BAG-3|BIS|CAIR-1|MFM6;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,BCL2_associated_athanogene_3;transcript_id=,NM_004281.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=BAG3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=BAG3:NM_004281:exon4:c.A1296G:p.V432V;cytoBand=10q26.11;genomicSuperDups=.;esp6500siv2_all=0.7703;esp6500siv2_ea=0.7792;esp6500siv2_all=0.7703;esp6500siv2_ea=0.7792;1000g2015aug_all=0.70647;avsnp147=rs196295;Kaviar_AF=0.740042;Kaviar_AC=114412;Kaviar_AN=154602;ExAC_ALL=0.7409;ExAC_AFR=0.7517;ExAC_AMR=0.6310;ExAC_EAS=0.5208;ExAC_FIN=0.7299;ExAC_NFE=0.7819;ExAC_OTH=0.7632;ExAC_SAS=0.7637;CLNALLELEID=53944;CLNDN=Myofibrillar_myopathy,_BAG3-related|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant|not_provided;CLNDISDB=MedGen:C2751831,OMIM:612954,Orphanet:ORPHA199340|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.7384;gnomAD_exome_AFR=0.7530;gnomAD_exome_AMR=0.6405;gnomAD_exome_ASJ=0.8181;gnomAD_exome_EAS=0.5160;gnomAD_exome_FIN=0.7422;gnomAD_exome_NFE=0.7841;gnomAD_exome_OTH=0.7623;gnomAD_exome_SAS=0.7641;gnomAD_genome_ALL=0.7508;gnomAD_genome_AFR=0.7533;gnomAD_genome_AMR=0.6439;gnomAD_genome_ASJ=0.8079;gnomAD_genome_EAS=0.5216;gnomAD_genome_FIN=0.7437;gnomAD_genome_NFE=0.7798;gnomAD_genome_OTH=0.7622;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-10 GT:DP:CLCAD2 1/1:121:0,121 1/1:173:0,173 1:182:0,94 1/1:239:0,239 . 1:177:0,89 1:143:0,69 1/1:172:0,172 1:222:0,117 1/1:183:0,183 1/1:225:0,225 1/1:204:0,204 1/1:209:0,209 1/1:183:0,183 1:298:0,139 1/1:205:0,205 1:207:0,104 1:206:0,95 . 1:183:0,88 1/1:190:0,190 1:226:0,108 1/1:202:0,202 1/1:223:0,223 1:219:0,112 . 1/1:194:0,194 1:236:0,98 1/1:235:0,235 1:247:0,133 1/1:216:0,216 1/1:136:0,136 1/1:197:0,197 1:154:0,76 1/1:199:0,199 1:168:0,75 1/1:166:0,166 1:150:0,71 1/1:157:0,157 1/1:184:0,184 1/1:184:0,184 1:141:0,61 11 532611 377968 G A 200.00 . #_unique_end_positions=,50;#_unique_start_positions=,53;AC=1;ALLELEID_clinvar_20171029_hg19=,371481;AN=1;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.22;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000011.9:g.532611G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_single_submitter;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;Coding_region_change=,NM_001130442.2:c.*25C>T|_NM_001318054.1:c.*5+20C>T|_NM_005343.3:c.*5+20C>T|_NM_176795.4:c.*164C>T|_NM_198075.3:c.-5416G>A;Coding_region_change_in_longest_transcript=,NM_176795.4:c.*164C>T;Exact_match=,clinvar_20171029_hg19;Forward_read_coverage=,119;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:3265;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:3265;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:5173;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:5173;Homo_sapiens_refseq_GRCh37.p13_Genes=,HRAS;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001130442.2|NM_176795.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene22342;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna32291|rna32293;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:190020;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:190020;Non-synonymous=,-;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene22342;QUAL=,200.0;Read_count=,79;Read_coverage=,223;Read_direction_test_probability=,0.9697600814603246;Read_position_test_probability=,0.8227138079300232;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001130442.2|NM_176795.4;Reverse_read_coverage=,104;SF=29;conservation_score=,0.0;db_xref=,GeneID:3265|HGNC:HGNC:5173|MIM:190020;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:01813;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001130442.2|HPRD:01813|Genbank:NM_176795.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HRas_proto-oncogene|_GTPase;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HRAS;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HRAS;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,C-BAS/HAS|C-H-RAS|C-HA-RAS1|CTLO|H-RASIDX|HAMSV|HRAS1|p21ras|RASH1;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HRas_proto-oncogene|_GTPase|_transcript_variant_3|HRas_proto-oncogene|_GTPase|_transcript_variant_2;transcript_id=,NM_001130442.2|NM_176795.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR3;Gene.refGene=HRAS;GeneDetail.refGene=NM_001130442:c.*25C>T,NM_176795:c.*164C>T;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=11p15.5;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs756277885;Kaviar_AF=6.47e-05;Kaviar_AC=10;Kaviar_AN=154602;ExAC_ALL=9.867e-05;ExAC_AFR=0;ExAC_AMR=0.0001;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0001;ExAC_OTH=0.0015;ExAC_SAS=0;CLNALLELEID=371481;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-2.3935;dpsi_zscore=-2.012;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0001;gnomAD_exome_AFR=0;gnomAD_exome_AMR=9.077e-05;gnomAD_exome_ASJ=0.0009;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=6.698e-05;gnomAD_exome_OTH=0.0010;gnomAD_exome_SAS=3.291e-05;gnomAD_genome_ALL=3.238e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:204:0,76 . . . . . . . . . . . . 11 532729 40446;rs140060409 C T 200.00 . #_unique_end_positions=,47;#_unique_start_positions=,44;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0028;AF_EXAC_clinvar_20171029_hg19=,0.00136;AF_TGP_clinvar_20171029_hg19=,0.0006;ALLELEID_clinvar_20171029_hg19=,48916;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0014;AN=1;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.11;CLNDISDB_clinvar_20171029_hg19=,MedGen:C0587248|OMIM:218040|Orphanet:ORPHA3071|SNOMED_CT:309776008|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Costello_syndrome|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000011.9:g.532729C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;Coding_region_change=,NM_001130442.2:c.477G>A|_NM_001318054.1:c.240G>A|_NM_005343.3:c.477G>A|_NM_176795.4:c.*46G>A|_NM_198075.3:c.-5298C>T;Coding_region_change_in_longest_transcript=,NM_176795.4:c.*46G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0020;Exact_match=,clinvar_20171029_hg19|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,58;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:3265;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:3265;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:5173;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:5173;Homo_sapiens_refseq_GRCh37.p13_Genes=,HRAS;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001130442.2|NM_005343.3|NM_176795.4|NM_001318054.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene22342;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna32291|rna32290|rna32293|rna32292;MC_clinvar_20171029_hg19=,SO:0001624|3_prime_UTR_variant|SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:190020;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:190020;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene22342;QUAL=,200.0;Read_count=,109;Read_coverage=,207;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9966059674730993;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001130442.2|NM_005343.3|NM_176795.4|NM_001318054.1;Reverse_read_coverage=,149;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=22;conservation_score=,0.741;db_xref=,GeneID:3265|HGNC:HGNC:5173|MIM:190020;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:01813;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001130442.2|HPRD:01813|Genbank:NM_005343.3|Genbank:NM_176795.4|Genbank:NM_001318054.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HRas_proto-oncogene|_GTPase;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HRAS;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HRAS;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,C-BAS/HAS|C-H-RAS|C-HA-RAS1|CTLO|H-RASIDX|HAMSV|HRAS1|p21ras|RASH1;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HRas_proto-oncogene|_GTPase|_transcript_variant_3|HRas_proto-oncogene|_GTPase|_transcript_variant_1|HRas_proto-oncogene|_GTPase|_transcript_variant_2|HRas_proto-oncogene|_GTPase|_transcript_variant_4;transcript_id=,NM_001130442.2|NM_005343.3|NM_176795.4|NM_001318054.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=HRAS;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=HRAS:NM_001130442:exon5:c.G477A:p.L159L,HRAS:NM_005343:exon5:c.G477A:p.L159L;cytoBand=11p15.5;genomicSuperDups=.;esp6500siv2_all=0.0028;esp6500siv2_ea=0.0038;esp6500siv2_all=0.0028;esp6500siv2_ea=0.0038;1000g2015aug_all=0.000599042;avsnp147=rs140060409;Kaviar_AF=0.0014812;Kaviar_AC=229;Kaviar_AN=154602;ExAC_ALL=0.0014;ExAC_AFR=0.0004;ExAC_AMR=0.0016;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0021;ExAC_OTH=0.0011;ExAC_SAS=0;CLNALLELEID=48916;CLNDN=Costello_syndrome|Rasopathy|not_specified;CLNDISDB=MedGen:C0587248,OMIM:218040,Orphanet:ORPHA3071,SNOMED_CT:309776008|MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-3.5113;dpsi_zscore=-2.259;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0015;gnomAD_exome_AFR=0.0007;gnomAD_exome_AMR=0.0021;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0026;gnomAD_exome_OTH=0.0020;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0018;gnomAD_genome_AFR=0.0014;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0029;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . 1:188:0,99 . . . . . . . . . . . . . . . . . . . 11 533813 . C T 200.00 . #_unique_end_positions=,43;#_unique_start_positions=,43;AC=1;AN=1;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.16;Coding_region_change=,NM_001130442.2:c.243G>A|_NM_001318054.1:c.-77G>A|_NM_005343.3:c.243G>A|_NM_176795.4:c.243G>A|_NM_198075.3:c.-4214C>T;Coding_region_change_in_longest_transcript=,NM_176795.4:c.243G>A;Forward_read_coverage=,80;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:3265;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:3265;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:5173;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:5173;Homo_sapiens_refseq_GRCh37.p13_Genes=,HRAS;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001130442.2|NM_005343.3|NM_176795.4|NM_001318054.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene22342;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna32291|rna32290|rna32293|rna32292;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:190020;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:190020;Non-synonymous=,No;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene22342;QUAL=,200.0;Read_count=,69;Read_coverage=,172;Read_direction_test_probability=,0.511157965742261;Read_position_test_probability=,0.4420718647886166;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001130442.2|NM_005343.3|NM_176795.4|NM_001318054.1;Reverse_read_coverage=,92;SF=8;conservation_score=,0.907;db_xref=,GeneID:3265|HGNC:HGNC:5173|MIM:190020;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:01813;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001130442.2|HPRD:01813|Genbank:NM_005343.3|Genbank:NM_176795.4|Genbank:NM_001318054.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HRas_proto-oncogene|_GTPase;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HRAS;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HRAS;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,C-BAS/HAS|C-H-RAS|C-HA-RAS1|CTLO|H-RASIDX|HAMSV|HRAS1|p21ras|RASH1;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HRas_proto-oncogene|_GTPase|_transcript_variant_3|HRas_proto-oncogene|_GTPase|_transcript_variant_1|HRas_proto-oncogene|_GTPase|_transcript_variant_2|HRas_proto-oncogene|_GTPase|_transcript_variant_4;transcript_id=,NM_001130442.2|NM_005343.3|NM_176795.4|NM_001318054.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=HRAS;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=HRAS:NM_001130442:exon3:c.G243A:p.V81V,HRAS:NM_005343:exon3:c.G243A:p.V81V,HRAS:NM_176795:exon3:c.G243A:p.V81V;cytoBand=11p15.5;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.9671;dpsi_zscore=1.501;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . 1:163:0,67 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 11 534242 40431;rs12628 A G 198.13 . #_unique_end_positions=,20;#_unique_start_positions=,19;AC=34;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3729;AF_ESP_clinvar_20171029_hg19=,0.3545;AF_EXAC_clinvar_20171029_hg19=,0.31352;AF_TGP_clinvar_20171029_hg19=,0.2971;ALLELEID_clinvar_20171029_hg19=,48901;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3646;AN=34;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.21;CAF_dbsnp_common_v150_hg19_refseq=,0.7029|0.2971;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN166718|Orphanet:ORPHA98733|MedGen:CN169374|MedGen:CN517202;CLNDN_clinvar_20171029_hg19=,Rasopathy|not_specified|not_provided;CLNHGVS_clinvar_20171029_hg19=,NC_000011.9:g.534242A>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,ARUP_Laboratories|_Molecular_Genetics_and_Genomics:38028|HGMD:CM035804;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001130442.2:c.81T>C|_NM_001318054.1:c.-239T>C|_NM_005343.3:c.81T>C|_NM_176795.4:c.81T>C|_NM_198075.3:c.-3785A>G;Coding_region_change_in_longest_transcript=,NM_176795.4:c.81T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1726;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3121;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,30;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,HRAS:3265;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:3265;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:3265;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:5173;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:5173;Homo_sapiens_refseq_GRCh37.p13_Genes=,HRAS;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001130442.2|NM_005343.3|NM_176795.4|NM_001318054.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene22342;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna32291|rna32290|rna32293|rna32292;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001623|5_prime_UTR_variant|SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:190020;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:190020;Non-synonymous=,No;OM_dbsnp_common_v150_hg19_refseq=,OM;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene22342;QUAL=,149.54589770191004;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,534242;RS_dbsnp_common_v150_hg19_refseq=,12628;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,23;Read_coverage=,52;Read_direction_test_probability=,0.9609814555579702;Read_position_test_probability=,0.8943027468152582;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001130442.2|NM_005343.3|NM_176795.4|NM_001318054.1;Reverse_read_coverage=,22;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2597;SF=0,2,3,5,6,7,8,9,11,12,13,15,19,20,21,22,23,24,28,29,31,32,33,35,36,38,40;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.639192|0.360808;U5_dbsnp_common_v150_hg19_refseq=,U5;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05036840030517053f010101;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.387755;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.29646;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.195122;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.152941;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.278409;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.244186;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.197674;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.366667;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.37;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.454225;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.323864;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.345133;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.997;db_xref=,GeneID:3265|HGNC:HGNC:5173|MIM:190020;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:01813;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001130442.2|HPRD:01813|Genbank:NM_005343.3|Genbank:NM_176795.4|Genbank:NM_001318054.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HRas_proto-oncogene|_GTPase;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HRAS;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HRAS;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,C-BAS/HAS|C-H-RAS|C-HA-RAS1|CTLO|H-RASIDX|HAMSV|HRAS1|p21ras|RASH1;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HRas_proto-oncogene|_GTPase|_transcript_variant_3|HRas_proto-oncogene|_GTPase|_transcript_variant_1|HRas_proto-oncogene|_GTPase|_transcript_variant_2|HRas_proto-oncogene|_GTPase|_transcript_variant_4;transcript_id=,NM_001130442.2|NM_005343.3|NM_176795.4|NM_001318054.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=HRAS;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=HRAS:NM_001130442:exon2:c.T81C:p.H27H,HRAS:NM_005343:exon2:c.T81C:p.H27H,HRAS:NM_176795:exon2:c.T81C:p.H27H;cytoBand=11p15.5;genomicSuperDups=.;esp6500siv2_all=0.3545;esp6500siv2_ea=0.3441;esp6500siv2_all=0.3545;esp6500siv2_ea=0.3441;1000g2015aug_all=0.297125;avsnp147=rs12628;Kaviar_AF=0.313334;Kaviar_AC=48442;Kaviar_AN=154602;ExAC_ALL=0.3135;ExAC_AFR=0.3771;ExAC_AMR=0.3680;ExAC_EAS=0.1893;ExAC_FIN=0.2630;ExAC_NFE=0.3297;ExAC_OTH=0.2805;ExAC_SAS=0.2579;CLNALLELEID=48901;CLNDN=Rasopathy|not_specified|not_provided;CLNDISDB=MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1883;dpsi_zscore=0.700;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM035804#"Bladder_cancer_association_with";gnomAD_exome_ALL=0.3157;gnomAD_exome_AFR=0.3789;gnomAD_exome_AMR=0.3814;gnomAD_exome_ASJ=0.2712;gnomAD_exome_EAS=0.1885;gnomAD_exome_FIN=0.2675;gnomAD_exome_NFE=0.3384;gnomAD_exome_OTH=0.3086;gnomAD_exome_SAS=0.2520;gnomAD_genome_ALL=0.3432;gnomAD_genome_AFR=0.3836;gnomAD_genome_AMR=0.3600;gnomAD_genome_ASJ=0.2616;gnomAD_genome_EAS=0.2135;gnomAD_genome_FIN=0.2675;gnomAD_genome_NFE=0.3542;gnomAD_genome_OTH=0.3134;Whole_Blood=Whole_Blood::0.323848::0.0983752;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:43:0,20 . 1:90:0,41 1:76:0,41 . 1/1:82:0,82 1:69:0,32 1:111:0,64 1:103:0,56 1:77:0,37 . 1:89:0,44 1/1:99:0,99 1:87:0,41 . 1:97:0,49 . . . 1:109:0,53 1/1:80:0,80 1:116:0,58 1/1:138:0,138 1:101:0,48 1/1:108:0,108 . . . 1:113:0,64 1:112:0,54 . 1:53:0,26 1/1:86:0,86 1/1:65:0,65 . 1:82:0,40 1:76:0,35 . 1:73:0,28 . 1:95:0,42 . 11 2594153 . C T 200.00 . #_unique_end_positions=,55;#_unique_start_positions=,52;AC=1;AN=1;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.38;Coding_region_change=,NM_000218.2:c.858C>T|_NM_181798.1:c.477C>T;Coding_region_change_in_longest_transcript=,NM_000218.2:c.858C>T;Forward_read_coverage=,89;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:3784;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:3784;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:6294;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:6294;Homo_sapiens_refseq_GRCh37.p13_Genes=,KCNQ1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_000218.2|NM_181798.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene22427;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna32470|rna32471;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:607542;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:607542;Non-synonymous=,No;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene22427;QUAL=,200.0;Read_count=,101;Read_coverage=,195;Read_direction_test_probability=,0.9896144746726658;Read_position_test_probability=,0.9793734194824576;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_000218.2|NM_181798.1;Reverse_read_coverage=,106;SF=1;conservation_score=,0.995;db_xref=,GeneID:3784|HGNC:HGNC:6294|MIM:607542;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_000218.2|Genbank:NM_181798.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,potassium_voltage-gated_channel_subfamily_Q_member_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,KCNQ1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,KCNQ1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ATFB1|ATFB3|JLNS1|KCNA8|KCNA9|Kv1.9|Kv7.1|KVLQT1|LQT|LQT1|RWS|SQT2|WRS;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,potassium_voltage-gated_channel_subfamily_Q_member_1|_transcript_variant_1|potassium_voltage-gated_channel_subfamily_Q_member_1|_transcript_variant_2;transcript_id=,NM_000218.2|NM_181798.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KCNQ1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCNQ1:NM_000218:exon6:c.C858T:p.D286D,KCNQ1:NM_181798:exon6:c.C477T:p.D159D;cytoBand=11p15.5;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs760047145;Kaviar_AF=4.53e-05;Kaviar_AC=7;Kaviar_AN=154602;ExAC_ALL=5.87e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0.0001;ExAC_FIN=0;ExAC_NFE=7.615e-05;ExAC_OTH=0.0012;ExAC_SAS=0;CLNALLELEID=461129;CLNDN=Long_QT_syndrome;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.3055;dpsi_zscore=-0.861;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0001;gnomAD_exome_AFR=6.573e-05;gnomAD_exome_AMR=0.0003;gnomAD_exome_ASJ=0.0001;gnomAD_exome_EAS=5.802e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=8.983e-05;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=6.502e-05;gnomAD_genome_ALL=3.231e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.67e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . 1:167:0,86 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 11 2683290 . C T 200.00 . #_unique_end_positions=,59;#_unique_start_positions=,54;AC=1;AN=1;Amino_acid_change=,NP_000209.2:p.Thr498Ile|_NP_861463.1:p.Thr371Ile;Amino_acid_change_in_longest_transcript=,NP_000209.2:p.Thr498Ile;BaseQRankSum=,-0.48;Coding_region_change=,NM_000218.2:c.1493C>T|_NM_181798.1:c.1112C>T;Coding_region_change_in_longest_transcript=,NM_000218.2:c.1493C>T;Forward_read_coverage=,88;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:3784|GeneID:10984;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:3784|GeneID:10984;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:6294|HGNC:HGNC:6295;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:6294|HGNC:HGNC:6295;Homo_sapiens_refseq_GRCh37.p13_Genes=,KCNQ1|KCNQ1OT1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_000218.2|NM_181798.1|NR_002728.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene22427|gene22428;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna32470|rna32471|rna32472;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:607542|MIM:604115;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:607542|MIM:604115;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene22427|gene22428;QUAL=,200.0;Read_count=,99;Read_coverage=,182;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9998905559102318;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_000218.2|NM_181798.1|NR_002728.3;Reverse_read_coverage=,94;SF=5;conservation_score=,0.0;db_xref=,GeneID:3784|HGNC:HGNC:6294|MIM:607542|GeneID:10984|HGNC:HGNC:6295|MIM:604115;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_000218.2|Genbank:NM_181798.1|Genbank:NR_002728.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,potassium_voltage-gated_channel_subfamily_Q_member_1|KCNQ1_opposite_strand/antisense_transcript_1_(non-protein_coding);gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA|ncRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,KCNQ1|KCNQ1OT1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,KCNQ1|KCNQ1OT1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding|lncRNA;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ATFB1|ATFB3|JLNS1|KCNA8|KCNA9|Kv1.9|Kv7.1|KVLQT1|LQT|LQT1|RWS|SQT2|WRS|KCNQ1-AS2|KCNQ10T1|Kncq1|KvDMR1|KvLQT1-AS|LIT1|NCRNA00012;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,potassium_voltage-gated_channel_subfamily_Q_member_1|_transcript_variant_1|potassium_voltage-gated_channel_subfamily_Q_member_1|_transcript_variant_2|KCNQ1_opposite_strand/antisense_transcript_1_(non-protein_coding);transcript_id=,NM_000218.2|NM_181798.1|NR_002728.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA|lnc_RNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KCNQ1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=KCNQ1:NM_000218:exon11:c.C1493T:p.T498I,KCNQ1:NM_181798:exon11:c.C1112T:p.T371I;cytoBand=11p15.5;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.411;SIFT_pred=T;Polyphen2_HDIV_score=0.019;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.027;Polyphen2_HVAR_pred=B;LRT_score=0.413;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=1.245;MutationAssessor_pred=L;FATHMM_score=-6.31;FATHMM_pred=D;PROVEAN_score=-0.84;PROVEAN_pred=N;VEST3_score=0.524;CADD_raw=2.016;CADD_phred=16.31;DANN_score=0.979;fathmm-MKL_coding_score=0.164;fathmm-MKL_coding_pred=N;MetaSVM_score=0.980;MetaSVM_pred=D;MetaLR_score=0.942;MetaLR_pred=D;integrated_fitCons_score=0.650;integrated_confidence_value=0;GERP++_RS=1.77;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.071;phastCons7way_vertebrate=0.957;phastCons20way_mammalian=0.099;SiPhy_29way_logOdds=7.226;GDI_full_10282015=.;dpsi_max_tissue=0.2740;dpsi_zscore=0.852;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=7 GT:DP:CLCAD2 . . . . . 1:153:0,84 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 11 2797237 42488;rs1057128 G A 186.60 . #_unique_end_positions=,23;#_unique_start_positions=,19;AC=9;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0106;AF_ESP_clinvar_20171029_hg19=,0.1435;AF_EXAC_clinvar_20171029_hg19=,0.25844;AF_TGP_clinvar_20171029_hg19=,0.1809;ALLELEID_clinvar_20171029_hg19=,51658;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3300;AN=9;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.14;CAF_dbsnp_common_v150_hg19_refseq=,0.8191|0.1809;CLNDISDB_clinvar_20171029_hg19=,MeSH:D008133|MedGen:C0023976|SNOMED_CT:9651007|MedGen:C0022387|Orphanet:ORPHA90647|SNOMED_CT:373905003|MedGen:C2348199|Orphanet:ORPHA51083|MedGen:CN119492|SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN204347|Orphanet:ORPHA334|MedGen:CN230736;CLNDN_clinvar_20171029_hg19=,Long_QT_syndrome|Jervell_and_Lange-Nielsen_syndrome|short_QT_syndrome|Romano-Ward_syndrome|not_specified|Familial_atrial_fibrillation|Cardiovascular_phenotype;CLNHGVS_clinvar_20171029_hg19=,NC_000011.9:g.2797237G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:6798;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000218.2:c.1638G>A|_NM_181798.1:c.1257G>A;Coding_region_change_in_longest_transcript=,NM_000218.2:c.1638G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2927;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1978;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,52;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,KCNQ1:3784;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:3784;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:3784;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:6294;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:6294;Homo_sapiens_refseq_GRCh37.p13_Genes=,KCNQ1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_000218.2|NM_181798.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene22427;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna32470|rna32471;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:607542;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:607542;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene22427;QUAL=,137.61465171836542;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,2797237;RS_dbsnp_common_v150_hg19_refseq=,1057128;Read_count=,35;Read_coverage=,90;Read_direction_test_probability=,0.9683390395432367;Read_position_test_probability=,0.45508810036336567;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_000218.2|NM_181798.1;Reverse_read_coverage=,38;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1728;SF=0,4,12,20,26,29,34,36,40;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.855691|0.144309;TPA_dbsnp_common_v150_hg19_refseq=,TPA;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050138000305150537000101;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.0510204;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.174107;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.256098;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.3;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.102273;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.290698;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.284884;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.0111111;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.346939;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.020979;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.170455;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.88;db_xref=,GeneID:3784|HGNC:HGNC:6294|MIM:607542;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_000218.2|Genbank:NM_181798.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,potassium_voltage-gated_channel_subfamily_Q_member_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,KCNQ1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,KCNQ1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ATFB1|ATFB3|JLNS1|KCNA8|KCNA9|Kv1.9|Kv7.1|KVLQT1|LQT|LQT1|RWS|SQT2|WRS;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,potassium_voltage-gated_channel_subfamily_Q_member_1|_transcript_variant_1|potassium_voltage-gated_channel_subfamily_Q_member_1|_transcript_variant_2;transcript_id=,NM_000218.2|NM_181798.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KCNQ1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCNQ1:NM_000218:exon13:c.G1638A:p.S546S,KCNQ1:NM_181798:exon13:c.G1257A:p.S419S;cytoBand=11p15.5;genomicSuperDups=.;esp6500siv2_all=0.1435;esp6500siv2_ea=0.1932;esp6500siv2_all=0.1435;esp6500siv2_ea=0.1932;1000g2015aug_all=0.180911;avsnp147=rs1057128;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=0.2584;ExAC_AFR=0.0589;ExAC_AMR=0.4707;ExAC_EAS=0.3899;ExAC_FIN=0.3558;ExAC_NFE=0.2836;ExAC_OTH=0.2391;ExAC_SAS=0.2042;CLNALLELEID=51658;CLNDN=Long_QT_syndrome|Jervell_and_Lange-Nielsen_syndrome|short_QT_syndrome|Romano-Ward_syndrome|not_specified|Familial_atrial_fibrillation|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0022387,Orphanet:ORPHA90647,SNOMED_CT:373905003|MedGen:C2348199,Orphanet:ORPHA51083|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN204347,Orphanet:ORPHA334|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.7988;dpsi_zscore=-1.343;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2074;gnomAD_exome_AFR=0.0354;gnomAD_exome_AMR=0.3595;gnomAD_exome_ASJ=0.1615;gnomAD_exome_EAS=0.2826;gnomAD_exome_FIN=0.1777;gnomAD_exome_NFE=0.1866;gnomAD_exome_OTH=0.2086;gnomAD_exome_SAS=0.1829;gnomAD_genome_ALL=0.1654;gnomAD_genome_AFR=0.0459;gnomAD_genome_AMR=0.3329;gnomAD_genome_ASJ=0.1490;gnomAD_genome_EAS=0.2932;gnomAD_genome_FIN=0.1970;gnomAD_genome_NFE=0.2029;gnomAD_genome_OTH=0.1939;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:79:0,27 . . . 1:59:0,23 . . . . . . . 1:121:0,47 . . . . . . . 1:104:0,52 . . . . . 1:93:0,38 . . 1:140:0,61 . . . . 1:109:0,54 . 1:90:0,40 . . . 1:112:0,58 . 11 2869002 163744;rs147091980 G A 200.00 . #_unique_end_positions=,49;#_unique_start_positions=,48;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0008;AF_ESP_clinvar_20171029_hg19=,0.0006;AF_EXAC_clinvar_20171029_hg19=,0.00056;AF_TGP_clinvar_20171029_hg19=,0.0006;ALLELEID_clinvar_20171029_hg19=,174724;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0014;AN=1;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.16;CLNDISDB_clinvar_20171029_hg19=,MeSH:D008133|MedGen:C0023976|SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736;CLNDN_clinvar_20171029_hg19=,Long_QT_syndrome|not_specified|Cardiovascular_phenotype;CLNHGVS_clinvar_20171029_hg19=,NC_000011.9:g.2869002G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;Coding_region_change=,NM_000218.2:c.1800G>A|_NM_181798.1:c.1419G>A;Coding_region_change_in_longest_transcript=,NM_000218.2:c.1800G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;Exact_match=,clinvar_20171029_hg19|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,148;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:3784|GeneID:338653;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:3784;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:6294|HGNC:HGNC:42790;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:6294;Homo_sapiens_refseq_GRCh37.p13_Genes=,KCNQ1|KCNQ1-AS1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_000218.2|NM_181798.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene22427|gene22430;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna32470|rna32471;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:607542;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:607542;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene22427;QUAL=,200.0;Read_count=,84;Read_coverage=,188;Read_direction_test_probability=,0.9946830528145928;Read_position_test_probability=,0.8580445248454133;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_000218.2|NM_181798.1;Reverse_read_coverage=,40;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=28;conservation_score=,0.661;db_xref=,GeneID:3784|HGNC:HGNC:6294|MIM:607542|GeneID:338653|HGNC:HGNC:42790;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_000218.2|Genbank:NM_181798.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,potassium_voltage-gated_channel_subfamily_Q_member_1|KCNQ1_antisense_RNA_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,KCNQ1|KCNQ1-AS1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,KCNQ1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding|lncRNA;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ATFB1|ATFB3|JLNS1|KCNA8|KCNA9|Kv1.9|Kv7.1|KVLQT1|LQT|LQT1|RWS|SQT2|WRS;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,potassium_voltage-gated_channel_subfamily_Q_member_1|_transcript_variant_1|potassium_voltage-gated_channel_subfamily_Q_member_1|_transcript_variant_2;transcript_id=,NM_000218.2|NM_181798.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KCNQ1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCNQ1:NM_000218:exon16:c.G1800A:p.T600T,KCNQ1:NM_181798:exon16:c.G1419A:p.T473T;cytoBand=11p15.4;genomicSuperDups=.;esp6500siv2_all=0.0006;esp6500siv2_ea=0.0009;esp6500siv2_all=0.0006;esp6500siv2_ea=0.0009;1000g2015aug_all=0.000599042;avsnp147=rs147091980;Kaviar_AF=0.0002587;Kaviar_AC=40;Kaviar_AN=154602;ExAC_ALL=0.0006;ExAC_AFR=0.0004;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0012;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=174724;CLNDN=Long_QT_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0003;gnomAD_exome_AFR=9.808e-05;gnomAD_exome_AMR=0.0002;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=7.628e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0006;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0003;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0004;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:177:0,77 . . . . . . . . . . . . . 11 2869188 42489;rs11601907 C T 196.38 . #_unique_end_positions=,33;#_unique_start_positions=,33;AC=15;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0242;AF_ESP_clinvar_20171029_hg19=,0.1734;AF_EXAC_clinvar_20171029_hg19=,0.26074;AF_TGP_clinvar_20171029_hg19=,0.0833;ALLELEID_clinvar_20171029_hg19=,51659;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1081;AN=15;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.51;CAF_dbsnp_common_v150_hg19_refseq=,0.9167|.|0.08327;CLNDISDB_clinvar_20171029_hg19=,MeSH:D008133|MedGen:C0023976|SNOMED_CT:9651007|MedGen:C0022387|Orphanet:ORPHA90647|SNOMED_CT:373905003|MedGen:C2348199|Orphanet:ORPHA51083|MedGen:CN119492|SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN204347|Orphanet:ORPHA334|MedGen:CN230736;CLNDN_clinvar_20171029_hg19=,Long_QT_syndrome|Jervell_and_Lange-Nielsen_syndrome|short_QT_syndrome|Romano-Ward_syndrome|not_specified|Familial_atrial_fibrillation|Cardiovascular_phenotype;CLNHGVS_clinvar_20171029_hg19=,NC_000011.9:g.2869188C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:6756;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000218.2:c.1986C>T|_NM_181798.1:c.1605C>T;Coding_region_change_in_longest_transcript=,NM_000218.2:c.1986C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2386;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,55;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,KCNQ1-AS1:338653|KCNQ1:3784;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:3784|GeneID:338653;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:3784;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:6294|HGNC:HGNC:42790;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:6294;Homo_sapiens_refseq_GRCh37.p13_Genes=,KCNQ1|KCNQ1-AS1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_000218.2|NM_181798.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene22427|gene22430;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna32470|rna32471;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:607542;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:607542;Non-synonymous=,No;OM_dbsnp_common_v150_hg19_refseq=,OM;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene22427;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,2869188;RS_dbsnp_common_v150_hg19_refseq=,11601907;Read_count=,68;Read_coverage=,151;Read_direction_test_probability=,0.8923117990996408;Read_position_test_probability=,0.8507895526167691;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_000218.2|NM_181798.1;Reverse_read_coverage=,96;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0716;SF=2,6,7,8,11,12,19,24,32,34,35,36;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.852256|3.4343e-005|0.147709;TPA_dbsnp_common_v150_hg19_refseq=,TPA;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05017808030515053e110100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.985;db_xref=,GeneID:3784|HGNC:HGNC:6294|MIM:607542|GeneID:338653|HGNC:HGNC:42790;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_000218.2|Genbank:NM_181798.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,potassium_voltage-gated_channel_subfamily_Q_member_1|KCNQ1_antisense_RNA_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,KCNQ1|KCNQ1-AS1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,KCNQ1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding|lncRNA;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ATFB1|ATFB3|JLNS1|KCNA8|KCNA9|Kv1.9|Kv7.1|KVLQT1|LQT|LQT1|RWS|SQT2|WRS;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,potassium_voltage-gated_channel_subfamily_Q_member_1|_transcript_variant_1|potassium_voltage-gated_channel_subfamily_Q_member_1|_transcript_variant_2;transcript_id=,NM_000218.2|NM_181798.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KCNQ1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCNQ1:NM_000218:exon16:c.C1986T:p.Y662Y,KCNQ1:NM_181798:exon16:c.C1605T:p.Y535Y;cytoBand=11p15.4;genomicSuperDups=.;esp6500siv2_all=0.1734;esp6500siv2_ea=0.2328;esp6500siv2_all=0.1734;esp6500siv2_ea=0.2328;1000g2015aug_all=0.0832668;avsnp147=rs11601907;Kaviar_AF=0.142611;Kaviar_AC=22048;Kaviar_AN=154602;ExAC_ALL=0.2607;ExAC_AFR=0.0759;ExAC_AMR=0.2044;ExAC_EAS=0.0012;ExAC_FIN=0.4646;ExAC_NFE=0.3658;ExAC_OTH=0.2180;ExAC_SAS=0.1257;CLNALLELEID=51659;CLNDN=Long_QT_syndrome|Jervell_and_Lange-Nielsen_syndrome|short_QT_syndrome|Romano-Ward_syndrome|not_specified|Familial_atrial_fibrillation|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0022387,Orphanet:ORPHA90647,SNOMED_CT:373905003|MedGen:C2348199,Orphanet:ORPHA51083|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN204347,Orphanet:ORPHA334|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1725;gnomAD_exome_AFR=0.0410;gnomAD_exome_AMR=0.0930;gnomAD_exome_ASJ=0.1796;gnomAD_exome_EAS=0.0005;gnomAD_exome_FIN=0.2710;gnomAD_exome_NFE=0.2550;gnomAD_exome_OTH=0.1786;gnomAD_exome_SAS=0.0933;gnomAD_genome_ALL=0.1875;gnomAD_genome_AFR=0.0512;gnomAD_genome_AMR=0.1313;gnomAD_genome_ASJ=0.2119;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.2698;gnomAD_genome_NFE=0.2676;gnomAD_genome_OTH=0.2366;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . 1:147:0,65 . . . 1:137:0,59 1:163:0,81 1/1:128:0,128 . . 1:179:0,81 1/1:153:0,153 . . . . . . 1:147:0,53 . . . . 1:184:0,77 . . . . . . . 1/1:174:0,174 . 1:159:0,84 1:142:0,66 1:123:0,62 . . . . . 11 6629665 137588;rs1043388 C T 177.81 . #_unique_end_positions=,34;#_unique_start_positions=,25;AC=16;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4153;AF_ESP_clinvar_20171029_hg19=,0.2950;AF_EXAC_clinvar_20171029_hg19=,0.26771;AF_TGP_clinvar_20171029_hg19=,0.3147;ALLELEID_clinvar_20171029_hg19=,141291;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2608;AN=16;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.35;CAF_dbsnp_common_v150_hg19_refseq=,0.6853|0.3147;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000011.9:g.6629665C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001014794.2:c.297C>T|_NM_001014795.2:c.297C>T|_NM_001278441.1:c.297C>T|_NM_001278442.1:c.-106C>T|_NM_004517.3:c.297C>T|_NM_015324.3:c.-4933G>A;Coding_region_change_in_longest_transcript=,NM_001014795.2:c.297C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3512;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2535;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,29;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,ILK:3611;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:3611;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:3611;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:6040;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:6040;Homo_sapiens_refseq_GRCh37.p13_Genes=,ILK;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001278441.1|NM_001278442.1|NM_004517.3|NM_001014794.2|NM_001014795.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene22622;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna32691|rna32693|rna32690|rna32692|rna32694;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001623|5_prime_UTR_variant|SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:602366;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:602366;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene22622;QUAL=,140.20091318947436;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,6629665;RS_dbsnp_common_v150_hg19_refseq=,1043388;Read_count=,40;Read_coverage=,67;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.8152659013811392;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001278441.1|NM_001278442.1|NM_004517.3|NM_001014794.2|NM_001014795.2;Reverse_read_coverage=,38;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2423;SF=2,7,9,12,15,19,21,24,25,29,30,32,33,34,36;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.677279|0.322721;U5_dbsnp_common_v150_hg19_refseq=,U5;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050168400305170537100100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.346939;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.309735;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.341463;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.335294;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.295455;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.337209;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.366279;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.422222;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.23;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.384615;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.267045;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.424779;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.998;db_xref=,GeneID:3611|HGNC:HGNC:6040|MIM:602366;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:03842;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001278441.1|HPRD:03842|Genbank:NM_001278442.1|Genbank:NM_004517.3|Genbank:NM_001014794.2|Genbank:NM_001014795.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,integrin_linked_kinase;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ILK;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,ILK;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HEL-S-28|ILK-1|ILK-2|P59|p59ILK;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,integrin_linked_kinase|_transcript_variant_4|integrin_linked_kinase|_transcript_variant_5|integrin_linked_kinase|_transcript_variant_1|integrin_linked_kinase|_transcript_variant_2|integrin_linked_kinase|_transcript_variant_3;transcript_id=,NM_001278441.1|NM_001278442.1|NM_004517.3|NM_001014794.2|NM_001014795.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=ILK;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ILK:NM_001014795:exon3:c.C297T:p.H99H,ILK:NM_001014794:exon4:c.C297T:p.H99H,ILK:NM_001278441:exon4:c.C297T:p.H99H,ILK:NM_004517:exon4:c.C297T:p.H99H;cytoBand=11p15.4;genomicSuperDups=.;esp6500siv2_all=0.2950;esp6500siv2_ea=0.25;esp6500siv2_all=0.2950;esp6500siv2_ea=0.25;1000g2015aug_all=0.314696;avsnp147=rs1043388;Kaviar_AF=0.265527;Kaviar_AC=41051;Kaviar_AN=154602;ExAC_ALL=0.2677;ExAC_AFR=0.3834;ExAC_AMR=0.2057;ExAC_EAS=0.3436;ExAC_FIN=0.2525;ExAC_NFE=0.2634;ExAC_OTH=0.2313;ExAC_SAS=0.2243;CLNALLELEID=141291;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.5055;dpsi_zscore=1.137;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2613;gnomAD_exome_AFR=0.3817;gnomAD_exome_AMR=0.2051;gnomAD_exome_ASJ=0.2843;gnomAD_exome_EAS=0.3443;gnomAD_exome_FIN=0.2439;gnomAD_exome_NFE=0.2605;gnomAD_exome_OTH=0.2477;gnomAD_exome_SAS=0.2272;gnomAD_genome_ALL=0.2953;gnomAD_genome_AFR=0.3774;gnomAD_genome_AMR=0.2053;gnomAD_genome_ASJ=0.3079;gnomAD_genome_EAS=0.3455;gnomAD_genome_FIN=0.2407;gnomAD_genome_NFE=0.2609;gnomAD_genome_OTH=0.2755;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . 1:60:0,37 . . . . 1:58:0,28 . 1:51:0,20 . . 1:65:0,35 . . 1:59:0,28 . . . 1:53:0,19 . 1:88:0,41 . . 1:68:0,25 1/1:51:0,51 . . . 1:64:0,26 1:75:0,30 . 1:55:0,23 1:58:0,26 1:75:0,36 . 1:70:0,27 . . . . . 11 6630542 155799;rs140322345 C T 200.00 . #_unique_end_positions=,34;#_unique_start_positions=,32;AC=2;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0009;AF_EXAC_clinvar_20171029_hg19=,0.00084;AF_TGP_clinvar_20171029_hg19=,0.0010;ALLELEID_clinvar_20171029_hg19=,165551;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0058;AN=2;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_004508.1:p.Arg211Cys|_NP_001014795.1:p.Arg211Cys|_NP_001265371.1:p.Arg77Cys|_NP_001265370.1:p.Arg150Cys|_NP_001014794.1:p.Arg211Cys;Amino_acid_change_in_longest_transcript=,NP_001014795.1:p.Arg211Cys;BaseQRankSum=,0.08;CAF_dbsnp_common_v150_hg19_refseq=,0.999|0.0009984;CLNDISDB_clinvar_20171029_hg19=,MedGen:C0949658|Orphanet:ORPHA155|SNOMED_CT:83978005|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Primary_familial_hypertrophic_cardiomyopathy|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000011.9:g.6630542C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001014794.2:c.631C>T|_NM_001014795.2:c.631C>T|_NM_001278441.1:c.448C>T|_NM_001278442.1:c.229C>T|_NM_004517.3:c.631C>T|_NM_006284.3:c.*1611G>A;Coding_region_change_in_longest_transcript=,NM_001014795.2:c.631C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,77;GENEINFO_dbsnp_common_v150_hg19_refseq=,ILK:3611;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:3611;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:3611;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:6040;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:6040;Homo_sapiens_refseq_GRCh37.p13_Genes=,ILK;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001278441.1|NM_001278442.1|NM_004517.3|NM_001014794.2|NM_001014795.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene22622;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna32691|rna32693|rna32690|rna32692|rna32694;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:602366;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:602366;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene22622;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,6630542;RS_dbsnp_common_v150_hg19_refseq=,140322345;Read_count=,51;Read_coverage=,119;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9719351909585305;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001278441.1|NM_001278442.1|NM_004517.3|NM_001014794.2|NM_001014795.2;Reverse_read_coverage=,42;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=23,38;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.999038|0.000961605;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050260000a05040436100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:3611|HGNC:HGNC:6040|MIM:602366;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:03842;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001278441.1|HPRD:03842|Genbank:NM_001278442.1|Genbank:NM_004517.3|Genbank:NM_001014794.2|Genbank:NM_001014795.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,integrin_linked_kinase;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ILK;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,ILK;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HEL-S-28|ILK-1|ILK-2|P59|p59ILK;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,integrin_linked_kinase|_transcript_variant_4|integrin_linked_kinase|_transcript_variant_5|integrin_linked_kinase|_transcript_variant_1|integrin_linked_kinase|_transcript_variant_2|integrin_linked_kinase|_transcript_variant_3;transcript_id=,NM_001278441.1|NM_001278442.1|NM_004517.3|NM_001014794.2|NM_001014795.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=ILK;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=ILK:NM_001278441:exon6:c.C448T:p.R150C,ILK:NM_001014795:exon7:c.C631T:p.R211C,ILK:NM_001278442:exon7:c.C229T:p.R77C,ILK:NM_001014794:exon8:c.C631T:p.R211C,ILK:NM_004517:exon8:c.C631T:p.R211C;cytoBand=11p15.4;genomicSuperDups=.;esp6500siv2_all=0.0009;esp6500siv2_ea=0.0014;esp6500siv2_all=0.0009;esp6500siv2_ea=0.0014;1000g2015aug_all=0.000998403;avsnp147=rs140322345;Kaviar_AF=0.000815;Kaviar_AC=126;Kaviar_AN=154602;ExAC_ALL=0.0008;ExAC_AFR=0.0003;ExAC_AMR=0.0029;ExAC_EAS=0;ExAC_FIN=0.0005;ExAC_NFE=0.0009;ExAC_OTH=0.0033;ExAC_SAS=6.056e-05;CLNALLELEID=165551;CLNDN=Primary_familial_hypertrophic_cardiomyopathy|not_specified;CLNDISDB=MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=0.012;SIFT_pred=D;Polyphen2_HDIV_score=0.988;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.661;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.62;MutationAssessor_pred=M;FATHMM_score=-2.6;FATHMM_pred=D;PROVEAN_score=-3.54;PROVEAN_pred=D;VEST3_score=0.93;CADD_raw=7.261;CADD_phred=34;DANN_score=0.999;fathmm-MKL_coding_score=0.955;fathmm-MKL_coding_pred=D;MetaSVM_score=0.561;MetaSVM_pred=D;MetaLR_score=0.702;MetaLR_pred=D;integrated_fitCons_score=0.722;integrated_confidence_value=0;GERP++_RS=5.4;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.976;phastCons20way_mammalian=0.998;SiPhy_29way_logOdds=18.343;GDI_full_10282015=.;dpsi_max_tissue=-0.9301;dpsi_zscore=-1.430;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM1516101#"Cardiomyopathy_dilated";gnomAD_exome_ALL=0.0009;gnomAD_exome_AFR=0.0001;gnomAD_exome_AMR=0.0022;gnomAD_exome_ASJ=0.0017;gnomAD_exome_EAS=5.798e-05;gnomAD_exome_FIN=0.0001;gnomAD_exome_NFE=0.0011;gnomAD_exome_OTH=0.0011;gnomAD_exome_SAS=9.746e-05;gnomAD_genome_ALL=0.0009;gnomAD_genome_AFR=0.0006;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0015;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=6 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . 1:115:0,48 . . . . . . . . . . . . . . 1:72:0,38 . . . 11 6630833 137590;rs1043390 G A 197.28 . #_unique_end_positions=,43;#_unique_start_positions=,40;AC=17;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5303;AF_ESP_clinvar_20171029_hg19=,0.3269;AF_EXAC_clinvar_20171029_hg19=,0.27822;AF_TGP_clinvar_20171029_hg19=,0.3474;ALLELEID_clinvar_20171029_hg19=,141293;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2651;AN=17;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.01;CAF_dbsnp_common_v150_hg19_refseq=,0.6526|0.3474;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000011.9:g.6630833G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001014794.2:c.819G>A|_NM_001014795.2:c.819G>A|_NM_001278441.1:c.636G>A|_NM_001278442.1:c.417G>A|_NM_004517.3:c.819G>A|_NM_006284.3:c.*1320C>T;Coding_region_change_in_longest_transcript=,NM_001014795.2:c.819G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3492;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2555;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,79;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,ILK:3611;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:3611;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:3611;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:6040;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:6040;Homo_sapiens_refseq_GRCh37.p13_Genes=,ILK;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001278441.1|NM_001278442.1|NM_004517.3|NM_001014794.2|NM_001014795.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene22622;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna32691|rna32693|rna32690|rna32692|rna32694;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:602366;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:602366;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene22622;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,6630833;RS_dbsnp_common_v150_hg19_refseq=,1043390;Read_count=,60;Read_coverage=,128;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9007160829422179;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001278441.1|NM_001278442.1|NM_004517.3|NM_001014794.2|NM_001014795.2;Reverse_read_coverage=,49;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2515;SF=2,7,9,12,15,19,21,24,25,29,30,32,33,34,36,37;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.635277|0.364723;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05036800030517053e100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:3611|HGNC:HGNC:6040|MIM:602366;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:03842;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001278441.1|HPRD:03842|Genbank:NM_001278442.1|Genbank:NM_004517.3|Genbank:NM_001014794.2|Genbank:NM_001014795.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,integrin_linked_kinase;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ILK;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,ILK;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HEL-S-28|ILK-1|ILK-2|P59|p59ILK;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,integrin_linked_kinase|_transcript_variant_4|integrin_linked_kinase|_transcript_variant_5|integrin_linked_kinase|_transcript_variant_1|integrin_linked_kinase|_transcript_variant_2|integrin_linked_kinase|_transcript_variant_3;transcript_id=,NM_001278441.1|NM_001278442.1|NM_004517.3|NM_001014794.2|NM_001014795.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=ILK;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ILK:NM_001278441:exon7:c.G636A:p.P212P,ILK:NM_001014795:exon8:c.G819A:p.P273P,ILK:NM_001278442:exon8:c.G417A:p.P139P,ILK:NM_001014794:exon9:c.G819A:p.P273P,ILK:NM_004517:exon9:c.G819A:p.P273P;cytoBand=11p15.4;genomicSuperDups=.;esp6500siv2_all=0.3269;esp6500siv2_ea=0.2514;esp6500siv2_all=0.3269;esp6500siv2_ea=0.2514;1000g2015aug_all=0.347444;avsnp147=rs1043390;Kaviar_AF=0.275398;Kaviar_AC=42577;Kaviar_AN=154602;ExAC_ALL=0.2782;ExAC_AFR=0.4799;ExAC_AMR=0.2111;ExAC_EAS=0.3454;ExAC_FIN=0.2528;ExAC_NFE=0.2642;ExAC_OTH=0.2384;ExAC_SAS=0.2323;CLNALLELEID=141293;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0536;dpsi_zscore=-0.281;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2696;gnomAD_exome_AFR=0.4756;gnomAD_exome_AMR=0.2109;gnomAD_exome_ASJ=0.2849;gnomAD_exome_EAS=0.3444;gnomAD_exome_FIN=0.2441;gnomAD_exome_NFE=0.2615;gnomAD_exome_OTH=0.2559;gnomAD_exome_SAS=0.2348;gnomAD_genome_ALL=0.3227;gnomAD_genome_AFR=0.4732;gnomAD_genome_AMR=0.2076;gnomAD_genome_ASJ=0.3079;gnomAD_genome_EAS=0.3462;gnomAD_genome_FIN=0.2414;gnomAD_genome_NFE=0.2613;gnomAD_genome_OTH=0.2787;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . 1:119:0,57 . . . . 1:93:0,45 . 1:119:0,59 . . 1:138:0,64 . . 1:124:0,53 . . . 1:109:0,49 . 1:195:0,86 . . 1:131:0,65 1/1:105:0,105 . . . 1:164:0,73 1:109:0,41 . 1:139:0,63 1:107:0,47 1:136:0,60 . 1:142:0,71 1:110:0,45 . . . . 11 6631016 137591;rs2292195 C T 200.00 . #_unique_end_positions=,35;#_unique_start_positions=,30;AC=16;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1256;AF_ESP_clinvar_20171029_hg19=,0.2273;AF_EXAC_clinvar_20171029_hg19=,0.22688;AF_TGP_clinvar_20171029_hg19=,0.1601;ALLELEID_clinvar_20171029_hg19=,141294;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2219;AN=16;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.18;CAF_dbsnp_common_v150_hg19_refseq=,0.8399|0.1601;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000011.9:g.6631016C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001014794.2:c.918C>T|_NM_001014795.2:c.918C>T|_NM_001278441.1:c.735C>T|_NM_001278442.1:c.516C>T|_NM_004517.3:c.918C>T|_NM_006284.3:c.*1137G>A;Coding_region_change_in_longest_transcript=,NM_001014795.2:c.918C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0833;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2575;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,35;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,ILK:3611;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:3611;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:3611;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:6040;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:6040;Homo_sapiens_refseq_GRCh37.p13_Genes=,ILK;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001278441.1|NM_001278442.1|NM_004517.3|NM_001014794.2|NM_001014795.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene22622;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna32691|rna32693|rna32690|rna32692|rna32694;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:602366;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:602366;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene22622;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,6631016;RS_dbsnp_common_v150_hg19_refseq=,2292195;Read_count=,48;Read_coverage=,97;Read_direction_test_probability=,0.9999558269842207;Read_position_test_probability=,0.9818047909017877;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001278441.1|NM_001278442.1|NM_004517.3|NM_001014794.2|NM_001014795.2;Reverse_read_coverage=,62;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1421;SF=4,5,6,8,13,14,17,18,22,27,28,30,36,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.807404|0.192596;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05036800030517053f100100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.183673;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.225664;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.0731707;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.117647;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.130682;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.104651;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0755814;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.155556;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.27;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.216783;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.267045;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0973451;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:3611|HGNC:HGNC:6040|MIM:602366;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:03842;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001278441.1|HPRD:03842|Genbank:NM_001278442.1|Genbank:NM_004517.3|Genbank:NM_001014794.2|Genbank:NM_001014795.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,integrin_linked_kinase;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ILK;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,ILK;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HEL-S-28|ILK-1|ILK-2|P59|p59ILK;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,integrin_linked_kinase|_transcript_variant_4|integrin_linked_kinase|_transcript_variant_5|integrin_linked_kinase|_transcript_variant_1|integrin_linked_kinase|_transcript_variant_2|integrin_linked_kinase|_transcript_variant_3;transcript_id=,NM_001278441.1|NM_001278442.1|NM_004517.3|NM_001014794.2|NM_001014795.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=ILK;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ILK:NM_001278441:exon8:c.C735T:p.A245A,ILK:NM_001014795:exon9:c.C918T:p.A306A,ILK:NM_001278442:exon9:c.C516T:p.A172A,ILK:NM_001014794:exon10:c.C918T:p.A306A,ILK:NM_004517:exon10:c.C918T:p.A306A;cytoBand=11p15.4;genomicSuperDups=.;esp6500siv2_all=0.2273;esp6500siv2_ea=0.2647;esp6500siv2_all=0.2273;esp6500siv2_ea=0.2647;1000g2015aug_all=0.160144;avsnp147=rs2292195;Kaviar_AF=0.226996;Kaviar_AC=35094;Kaviar_AN=154602;ExAC_ALL=0.2269;ExAC_AFR=0.1522;ExAC_AMR=0.2443;ExAC_EAS=0.1105;ExAC_FIN=0.2913;ExAC_NFE=0.2594;ExAC_OTH=0.2247;ExAC_SAS=0.1657;CLNALLELEID=141294;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0104;dpsi_zscore=-0.040;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2292;gnomAD_exome_AFR=0.1460;gnomAD_exome_AMR=0.2371;gnomAD_exome_ASJ=0.2539;gnomAD_exome_EAS=0.1078;gnomAD_exome_FIN=0.2976;gnomAD_exome_NFE=0.2581;gnomAD_exome_OTH=0.2348;gnomAD_exome_SAS=0.1666;gnomAD_genome_ALL=0.2265;gnomAD_genome_AFR=0.1492;gnomAD_genome_AMR=0.2231;gnomAD_genome_ASJ=0.2086;gnomAD_genome_EAS=0.1011;gnomAD_genome_FIN=0.2987;gnomAD_genome_NFE=0.2689;gnomAD_genome_OTH=0.2235;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . 1:92:0,45 1:137:0,72 1:113:0,51 . 1:172:0,78 . . . . 1:157:0,83 1:240:0,103 . . 1:170:0,90 1:136:0,74 . . . 1:231:0,104 . . . . 1:210:0,98 1:172:0,75 . 1:131:0,71 . . . . . 1:159:0,74 . . 1:144:0,76 1:159:0,76 1:153:0,79 11 19207841 44696;rs13451 C T 200.00 . #_unique_end_positions=,31;#_unique_start_positions=,29;AC=12;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0038;AF_ESP_clinvar_20171029_hg19=,0.0775;AF_EXAC_clinvar_20171029_hg19=,0.08189;AF_TGP_clinvar_20171029_hg19=,0.0427;ALLELEID_clinvar_20171029_hg19=,53863;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0519;AN=12;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.35;CAF_dbsnp_common_v150_hg19_refseq=,0.9573|.|0.04273;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant;CLNHGVS_clinvar_20171029_hg19=,NC_000011.9:g.19207841C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,ARUP_Laboratories|_Molecular_Genetics_and_Genomics:50157|Illumina_Clinical_Services_Laboratory|Illumina:7177;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_003476.4:c.336G>A;Coding_region_change_in_longest_transcript=,NM_003476.4:c.336G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0069;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1103;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI;Forward_read_coverage=,48;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,CSRP3:8048;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:8048;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:8048;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:2472;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:2472;Homo_sapiens_refseq_GRCh37.p13_Genes=,CSRP3;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003476.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene22837;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna33011;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:600824;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:600824;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene22837;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,19207841;RS_dbsnp_common_v150_hg19_refseq=,13451;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,49;Read_coverage=,85;Read_direction_test_probability=,0.9901230107827648;Read_position_test_probability=,0.9978920882820641;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003476.4;Reverse_read_coverage=,37;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0562;SF=0,3,4,13,15,17,24,28,34,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.939007|.|0.0609932;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050328000305150537000101;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.0510204;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.125;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.107955;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.08;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.013986;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.125;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.026;db_xref=,GeneID:8048|HGNC:HGNC:2472|MIM:600824;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:07525;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003476.4|HPRD:07525;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,cysteine_and_glycine_rich_protein_3;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CSRP3;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,CSRP3;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CLP|CMD1M|CMH12|CRP3|LMO4|MLP;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,cysteine_and_glycine_rich_protein_3;transcript_id=,NM_003476.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CSRP3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CSRP3:NM_003476:exon5:c.G336A:p.A112A;cytoBand=11p15.1;genomicSuperDups=.;esp6500siv2_all=0.0775;esp6500siv2_ea=0.1073;esp6500siv2_all=0.0775;esp6500siv2_ea=0.1073;1000g2015aug_all=0.0427316;avsnp147=rs13451;Kaviar_AF=0.0830002;Kaviar_AC=12832;Kaviar_AN=154602;ExAC_ALL=0.0819;ExAC_AFR=0.0159;ExAC_AMR=0.0389;ExAC_EAS=0.0024;ExAC_FIN=0.1158;ExAC_NFE=0.1124;ExAC_OTH=0.0749;ExAC_SAS=0.0587;CLNALLELEID=53863;CLNDN=Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.3760;dpsi_zscore=-0.954;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0800;gnomAD_exome_AFR=0.0151;gnomAD_exome_AMR=0.0450;gnomAD_exome_ASJ=0.1149;gnomAD_exome_EAS=0.0023;gnomAD_exome_FIN=0.1050;gnomAD_exome_NFE=0.1089;gnomAD_exome_OTH=0.0839;gnomAD_exome_SAS=0.0590;gnomAD_genome_ALL=0.0699;gnomAD_genome_AFR=0.0181;gnomAD_genome_AMR=0.0394;gnomAD_genome_ASJ=0.1192;gnomAD_genome_EAS=0.0012;gnomAD_genome_FIN=0.1073;gnomAD_genome_NFE=0.0981;gnomAD_genome_OTH=0.0906;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 1:70:0,41 . . 1:53:0,24 1/1:63:0,63 . . . . . . . . 1:97:0,51 . 1:90:0,47 . 1:88:0,37 . . . . . . 1/1:110:0,110 . . . 1:105:0,53 . . . . . 1:89:0,49 . . . . . . 1:75:0,32 11 47353738 42736;rs200162906 C T 200.00 . #_unique_end_positions=,52;#_unique_start_positions=,47;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0001;AF_EXAC_clinvar_20171029_hg19=,0.00081;AF_TGP_clinvar_20171029_hg19=,0.0016;ALLELEID_clinvar_20171029_hg19=,51906;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0115;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.14;CAF_dbsnp_common_v150_hg19_refseq=,0.9984|0.001597;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664|MedGen:C4021133|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant;CLNHGVS_clinvar_20171029_hg19=,NC_000011.9:g.47353738C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_conflicting_interpretations;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:762520;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000256.3:c.3699G>A;Coding_region_change_in_longest_transcript=,NM_000256.3:c.3699G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,87;GENEINFO_dbsnp_common_v150_hg19_refseq=,MYBPC3:4607;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:4607;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:4607;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:7551;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:7551;Homo_sapiens_refseq_GRCh37.p13_Genes=,MYBPC3;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_000256.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene23074;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna33477;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:600958;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:600958;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene23074;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,47353738;RS_dbsnp_common_v150_hg19_refseq=,200162906;Read_count=,96;Read_coverage=,199;Read_direction_test_probability=,0.9776747998754907;Read_position_test_probability=,0.7548891728298603;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_000256.3;Reverse_read_coverage=,112;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=11;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.999554|0.000446459;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050068000305040426100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:4607|HGNC:HGNC:7551|MIM:600958;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_000256.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,myosin_binding_protein_C|_cardiac;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MYBPC3;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MYBPC3;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1MM|CMH4|FHC|LVNC10|MYBP-C;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,myosin_binding_protein_C|_cardiac;transcript_id=,NM_000256.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYBPC3:NM_000256:exon32:c.G3699A:p.Q1233Q;cytoBand=11p11.2;genomicSuperDups=.;esp6500siv2_all=8.2e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=8.2e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=0.00159744;avsnp147=rs200162906;Kaviar_AF=0.000815;Kaviar_AC=126;Kaviar_AN=154602;ExAC_ALL=0.0008;ExAC_AFR=0.0001;ExAC_AMR=0.0081;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=3.002e-05;ExAC_OTH=0.0011;ExAC_SAS=0;CLNALLELEID=51906;CLNDN=Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=3.6012;dpsi_zscore=2.357;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0010;gnomAD_exome_AFR=6.543e-05;gnomAD_exome_AMR=0.0072;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=1.791e-05;gnomAD_exome_OTH=0.0011;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0002;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0.0060;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . . . . 1:186:0,86 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 11 47354787 42700;rs1052373 C T 200.00 . #_unique_end_positions=,31;#_unique_start_positions=,29;AC=12;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5083;AF_ESP_clinvar_20171029_hg19=,0.3550;AF_EXAC_clinvar_20171029_hg19=,0.47070;AF_TGP_clinvar_20171029_hg19=,0.4762;ALLELEID_clinvar_20171029_hg19=,51870;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3329;AN=12;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.47;CAF_dbsnp_common_v150_hg19_refseq=,0.5238|0.4762;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664|MedGen:C4021133|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant;CLNHGVS_clinvar_20171029_hg19=,NC_000011.9:g.47354787C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,ARUP_Laboratories|_Molecular_Genetics_and_Genomics:49005|Genetics_Diagnostic_Laboratory|Children's_Hospital_of_Eastern_Ontario_(CHEO):324233|Illumina_Clinical_Services_Laboratory|Illumina:7739;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000256.3:c.3288G>A;Coding_region_change_in_longest_transcript=,NM_000256.3:c.3288G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7202;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3072;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,63;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,MYBPC3:4607;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:4607;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:4607;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:7551;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:7551;Homo_sapiens_refseq_GRCh37.p13_Genes=,MYBPC3;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_000256.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene23074;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna33477;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:600958;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:600958;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene23074;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,47354787;RS_dbsnp_common_v150_hg19_refseq=,1052373;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,51;Read_coverage=,119;Read_direction_test_probability=,0.9992916405099294;Read_position_test_probability=,0.7638683458724677;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_000256.3;Reverse_read_coverage=,56;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4571;SF=0,2,10,12,17,25,27,28,30,37,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.620441|0.379559;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128000305170537000101;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.377551;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.254237;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.670732;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.705882;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.443182;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.6;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.666667;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.4;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.346939;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.395105;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.221591;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.5;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.698;db_xref=,GeneID:4607|HGNC:HGNC:7551|MIM:600958;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_000256.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,myosin_binding_protein_C|_cardiac;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MYBPC3;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MYBPC3;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1MM|CMH4|FHC|LVNC10|MYBP-C;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,myosin_binding_protein_C|_cardiac;transcript_id=,NM_000256.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYBPC3:NM_000256:exon29:c.G3288A:p.E1096E;cytoBand=11p11.2;genomicSuperDups=.;esp6500siv2_all=0.3550;esp6500siv2_ea=0.3039;esp6500siv2_all=0.3550;esp6500siv2_ea=0.3039;1000g2015aug_all=0.476238;avsnp147=rs1052373;Kaviar_AF=0.353605;Kaviar_AC=54668;Kaviar_AN=154602;ExAC_ALL=0.4707;ExAC_AFR=0.5417;ExAC_AMR=0.5499;ExAC_EAS=0.7248;ExAC_FIN=0.5246;ExAC_NFE=0.3910;ExAC_OTH=0.3691;ExAC_SAS=0.5002;CLNALLELEID=51870;CLNDN=Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1861862,OMIM:115197|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0460;dpsi_zscore=-0.247;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.4018;gnomAD_exome_AFR=0.5011;gnomAD_exome_AMR=0.4434;gnomAD_exome_ASJ=0.2603;gnomAD_exome_EAS=0.6981;gnomAD_exome_FIN=0.4259;gnomAD_exome_NFE=0.3187;gnomAD_exome_OTH=0.3333;gnomAD_exome_SAS=0.4666;gnomAD_genome_ALL=0.3986;gnomAD_genome_AFR=0.4834;gnomAD_genome_AMR=0.4010;gnomAD_genome_ASJ=0.2517;gnomAD_genome_EAS=0.6979;gnomAD_genome_FIN=0.4185;gnomAD_genome_NFE=0.3157;gnomAD_genome_OTH=0.3914;Whole_Blood=Whole_Blood::0.349593::-0.172697;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 1:103:0,42 . 1:221:0,102 . . . . . . . 1:231:0,114 . 1:237:0,116 . . . . 1:227:0,113 . . . . . . . 1:206:0,82 . 1:290:0,140 1/1:291:0,291 . 1:208:0,116 . . . . . . 1:123:0,53 . . . 1:157:0,74 11 47358997 42638;rs3729953 G A 200.00 . #_unique_end_positions=,64;#_unique_start_positions=,58;AC=4;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0136;AF_ESP_clinvar_20171029_hg19=,0.0300;AF_EXAC_clinvar_20171029_hg19=,0.04644;AF_TGP_clinvar_20171029_hg19=,0.0481;ALLELEID_clinvar_20171029_hg19=,51808;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0058;AN=4;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.02;CAF_dbsnp_common_v150_hg19_refseq=,0.9519|0.04812;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664|MedGen:C4021133|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant;CLNHGVS_clinvar_20171029_hg19=,NC_000011.9:g.47358997G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Genetics_Diagnostic_Laboratory|Children's_Hospital_of_Eastern_Ontario_(CHEO):322225|Illumina_Clinical_Services_Laboratory|Illumina:7768;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000256.3:c.2547C>T;Coding_region_change_in_longest_transcript=,NM_000256.3:c.2547C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0506;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0378;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,142;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,MYBPC3:4607;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:4607;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:4607;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:7551;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:7551;Homo_sapiens_refseq_GRCh37.p13_Genes=,MYBPC3;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_000256.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene23074;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna33477;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:600958;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:600958;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene23074;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,47358997;RS_dbsnp_common_v150_hg19_refseq=,3729953;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,106;Read_coverage=,224;Read_direction_test_probability=,0.9999991811304726;Read_position_test_probability=,0.9469804614173043;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_000256.3;Reverse_read_coverage=,82;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1329;SF=2,12,25,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.973453|0.0265472;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128000305150537000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0333333;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0333333;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0568182;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0169492;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.993;db_xref=,GeneID:4607|HGNC:HGNC:7551|MIM:600958;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_000256.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,myosin_binding_protein_C|_cardiac;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MYBPC3;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MYBPC3;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1MM|CMH4|FHC|LVNC10|MYBP-C;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,myosin_binding_protein_C|_cardiac;transcript_id=,NM_000256.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYBPC3:NM_000256:exon24:c.C2547T:p.V849V;cytoBand=11p11.2;genomicSuperDups=.;esp6500siv2_all=0.0300;esp6500siv2_ea=0.0351;esp6500siv2_all=0.0300;esp6500siv2_ea=0.0351;1000g2015aug_all=0.048123;avsnp147=rs3729953;Kaviar_AF=0.0437252;Kaviar_AC=6760;Kaviar_AN=154602;ExAC_ALL=0.0464;ExAC_AFR=0.0223;ExAC_AMR=0.0132;ExAC_EAS=0.0406;ExAC_FIN=0.0468;ExAC_NFE=0.0385;ExAC_OTH=0.0238;ExAC_SAS=0.1220;CLNALLELEID=51808;CLNDN=Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1861862,OMIM:115197|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.2262;dpsi_zscore=-0.735;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0438;gnomAD_exome_AFR=0.0216;gnomAD_exome_AMR=0.0131;gnomAD_exome_ASJ=0.0126;gnomAD_exome_EAS=0.0381;gnomAD_exome_FIN=0.0496;gnomAD_exome_NFE=0.0385;gnomAD_exome_OTH=0.0347;gnomAD_exome_SAS=0.1181;gnomAD_genome_ALL=0.0358;gnomAD_genome_AFR=0.0209;gnomAD_genome_AMR=0.0131;gnomAD_genome_ASJ=0.0331;gnomAD_genome_EAS=0.0364;gnomAD_genome_FIN=0.0518;gnomAD_genome_NFE=0.0411;gnomAD_genome_OTH=0.0491;Whole_Blood=Whole_Blood::0.0447154::0.324661;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 . . 1:215:0,103 . . . . . . . . . 1:209:0,108 . . . . . . . . . . . . 1:186:0,84 . . . . . . . . . . . . . . . 1:179:0,83 11 47362702 . C T 140.10 . #_unique_end_positions=,36;#_unique_start_positions=,24;AC=1;AN=1;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.27;Coding_region_change=,NM_000256.3:c.1884G>A;Coding_region_change_in_longest_transcript=,NM_000256.3:c.1884G>A;Forward_read_coverage=,8;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:4607;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:4607;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:7551;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:7551;Homo_sapiens_refseq_GRCh37.p13_Genes=,MYBPC3;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_000256.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene23074;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna33477;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:600958;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:600958;Non-synonymous=,No;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene23074;QUAL=,140.10107098040837;Read_count=,57;Read_coverage=,86;Read_direction_test_probability=,0.9982313624053365;Read_position_test_probability=,0.9795502630656006;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_000256.3;Reverse_read_coverage=,78;SF=36;conservation_score=,1.0;db_xref=,GeneID:4607|HGNC:HGNC:7551|MIM:600958;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_000256.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,myosin_binding_protein_C|_cardiac;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MYBPC3;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MYBPC3;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1MM|CMH4|FHC|LVNC10|MYBP-C;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,myosin_binding_protein_C|_cardiac;transcript_id=,NM_000256.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYBPC3:NM_000256:exon18:c.G1884A:p.K628K;cytoBand=11p11.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0075;dpsi_zscore=-0.020;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:83:0,55 . . . . . 11 47362702 . C T 140.10 . #_unique_end_positions=,36;#_unique_start_positions=,24;AC=1;AN=1;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.27;Coding_region_change=,NM_000256.3:c.1884G>A;Coding_region_change_in_longest_transcript=,NM_000256.3:c.1884G>A;Forward_read_coverage=,8;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:4607;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:4607;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:7551;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:7551;Homo_sapiens_refseq_GRCh37.p13_Genes=,MYBPC3;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_000256.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene23074;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna33477;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:600958;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:600958;Non-synonymous=,No;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene23074;QUAL=,140.10107098040837;Read_count=,57;Read_coverage=,86;Read_direction_test_probability=,0.9982313624053365;Read_position_test_probability=,0.9795502630656006;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_000256.3;Reverse_read_coverage=,78;SF=36;conservation_score=,1.0;db_xref=,GeneID:4607|HGNC:HGNC:7551|MIM:600958;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_000256.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,myosin_binding_protein_C|_cardiac;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MYBPC3;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MYBPC3;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1MM|CMH4|FHC|LVNC10|MYBP-C;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,myosin_binding_protein_C|_cardiac;transcript_id=,NM_000256.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYBPC3:NM_000256:exon18:c.G1884A:p.K628K;cytoBand=11p11.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0075;dpsi_zscore=-0.020;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:83:0,55 . . . . . 11 47364187 42546;rs376041792 C T 200.00 . #_unique_end_positions=,67;#_unique_start_positions=,56;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0001;AF_EXAC_clinvar_20171029_hg19=,0.00024;AF_TGP_clinvar_20171029_hg19=,0.0002;ALLELEID_clinvar_20171029_hg19=,51716;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AN=1;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.11;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN517202;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|not_specified|not_provided;CLNHGVS_clinvar_20171029_hg19=,NC_000011.9:g.47364187C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_conflicting_interpretations;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Genetics_Diagnostic_Laboratory|Children's_Hospital_of_Eastern_Ontario_(CHEO):320812;Coding_region_change=,NM_000256.3:c.1566G>A;Coding_region_change_in_longest_transcript=,NM_000256.3:c.1566G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;Exact_match=,clinvar_20171029_hg19|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,184;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:4607;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:4607;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:7551;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:7551;Homo_sapiens_refseq_GRCh37.p13_Genes=,MYBPC3;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_000256.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene23074;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna33477;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:600958;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:600958;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene23074;QUAL=,200.0;Read_count=,123;Read_coverage=,232;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.84781791762339;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_000256.3;Reverse_read_coverage=,48;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=25;conservation_score=,0.588;db_xref=,GeneID:4607|HGNC:HGNC:7551|MIM:600958;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_000256.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,myosin_binding_protein_C|_cardiac;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MYBPC3;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MYBPC3;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1MM|CMH4|FHC|LVNC10|MYBP-C;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,myosin_binding_protein_C|_cardiac;transcript_id=,NM_000256.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYBPC3:NM_000256:exon16:c.G1566A:p.A522A;cytoBand=11p11.2;genomicSuperDups=.;esp6500siv2_all=7.8e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=7.8e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=0.000199681;avsnp147=rs376041792;Kaviar_AF=0.000207;Kaviar_AC=32;Kaviar_AN=154602;ExAC_ALL=0.0002;ExAC_AFR=0.0002;ExAC_AMR=0.0002;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0003;ExAC_OTH=0;ExAC_SAS=0.0001;CLNALLELEID=51716;CLNDN=Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1861862,OMIM:115197|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1668;dpsi_zscore=-0.618;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0002;gnomAD_exome_AFR=0.0002;gnomAD_exome_AMR=0.0001;gnomAD_exome_ASJ=0.0003;gnomAD_exome_EAS=0;gnomAD_exome_FIN=4.488e-05;gnomAD_exome_NFE=0.0003;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=9.747e-05;gnomAD_genome_ALL=0.0002;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0003;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . 1:220:0,114 . . . . . . . . . . . . . . . . 11 47367871 42813;rs34580776 C T 200.00 . #_unique_end_positions=,64;#_unique_start_positions=,59;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0025;AF_EXAC_clinvar_20171029_hg19=,0.00551;AF_TGP_clinvar_20171029_hg19=,0.0008;ALLELEID_clinvar_20171029_hg19=,51983;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_000247.2:p.Arg326Gln;Amino_acid_change_in_longest_transcript=,NP_000247.2:p.Arg326Gln;BaseQRankSum=,-0.38;CAF_dbsnp_common_v150_hg19_refseq=,0.9992|0.0007987;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C0007193|Orphanet:ORPHA217604|SNOMED_CT:195021004|MedGen:C0949658|Orphanet:ORPHA155|SNOMED_CT:83978005|MedGen:C1449563|OMIM:115200|Orphanet:ORPHA300751|MedGen:CN169374|MedGen:CN230736;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Primary_dilated_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1A|not_specified|Cardiovascular_phenotype;CLNHGVS_clinvar_20171029_hg19=,NC_000011.9:g.47367871C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Genetics_Diagnostic_Laboratory|Children's_Hospital_of_Eastern_Ontario_(CHEO):327634|UniProtKB_(protein):Q14896#VAR_019893;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000256.3:c.977G>A;Coding_region_change_in_longest_transcript=,NM_000256.3:c.977G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0040;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,124;GENEINFO_dbsnp_common_v150_hg19_refseq=,MYBPC3:4607;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:4607;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:4607;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:7551;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:7551;Homo_sapiens_refseq_GRCh37.p13_Genes=,MYBPC3;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_000256.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene23074;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna33477;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:600958;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:600958;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene23074;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,47367871;RS_dbsnp_common_v150_hg19_refseq=,34580776;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,120;Read_coverage=,258;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9679211975387197;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_000256.3;Reverse_read_coverage=,134;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=25;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.998489|0.00151109;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128000a05040136000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:4607|HGNC:HGNC:7551|MIM:600958;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_000256.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,myosin_binding_protein_C|_cardiac;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MYBPC3;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MYBPC3;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1MM|CMH4|FHC|LVNC10|MYBP-C;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,myosin_binding_protein_C|_cardiac;transcript_id=,NM_000256.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYBPC3:NM_000256:exon12:c.G977A:p.R326Q;cytoBand=11p11.2;genomicSuperDups=.;esp6500siv2_all=0.0025;esp6500siv2_ea=0.0038;esp6500siv2_all=0.0025;esp6500siv2_ea=0.0038;1000g2015aug_all=0.000798722;avsnp147=rs34580776;Kaviar_AF=0.0039068;Kaviar_AC=604;Kaviar_AN=154602;ExAC_ALL=0.0055;ExAC_AFR=0.0004;ExAC_AMR=0.0013;ExAC_EAS=0;ExAC_FIN=0.0155;ExAC_NFE=0.0078;ExAC_OTH=0.0029;ExAC_SAS=0.0009;CLNALLELEID=51983;CLNDN=Primary_dilated_cardiomyopathy|Hypertrophic_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1A|Familial_hypertrophic_cardiomyopathy_4|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C1449563,OMIM:115200,Orphanet:ORPHA300751|MedGen:C1861862,OMIM:115197|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.026;SIFT_pred=D;Polyphen2_HDIV_score=0.046;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.009;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.785;MutationTaster_pred=D;MutationAssessor_score=1.32;MutationAssessor_pred=L;FATHMM_score=0.4;FATHMM_pred=T;PROVEAN_score=-1.59;PROVEAN_pred=N;VEST3_score=0.192;CADD_raw=4.274;CADD_phred=24.0;DANN_score=0.999;fathmm-MKL_coding_score=0.889;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.782;MetaSVM_pred=T;MetaLR_score=0.115;MetaLR_pred=T;integrated_fitCons_score=0.570;integrated_confidence_value=0;GERP++_RS=4.7;phyloP7way_vertebrate=0.853;phyloP20way_mammalian=0.934;phastCons7way_vertebrate=0.297;phastCons20way_mammalian=0.841;SiPhy_29way_logOdds=11.343;GDI_full_10282015=.;dpsi_max_tissue=-2.0750;dpsi_zscore=-1.925;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM020155#"Cardiomyopathy_hypertrophic";gnomAD_exome_ALL=0.0041;gnomAD_exome_AFR=0.0003;gnomAD_exome_AMR=0.0007;gnomAD_exome_ASJ=0.0007;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0133;gnomAD_exome_NFE=0.0056;gnomAD_exome_OTH=0.0041;gnomAD_exome_SAS=0.0007;gnomAD_genome_ALL=0.0066;gnomAD_genome_AFR=0.0002;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0146;gnomAD_genome_NFE=0.0093;gnomAD_genome_OTH=0.0122;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-4 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . 1:221:0,104 . . . . . . . . . . . . . . . . 11 47369443 42793;rs11570058 G A 200.00 . #_unique_end_positions=,36;#_unique_start_positions=,34;AC=4;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0340;AF_ESP_clinvar_20171029_hg19=,0.0933;AF_EXAC_clinvar_20171029_hg19=,0.15423;AF_TGP_clinvar_20171029_hg19=,0.0611;ALLELEID_clinvar_20171029_hg19=,51963;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0807;AN=4;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.08;CAF_dbsnp_common_v150_hg19_refseq=,0.9389|0.0611;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664|MedGen:C4021133|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant;CLNHGVS_clinvar_20171029_hg19=,NC_000011.9:g.47369443G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Genetics_Diagnostic_Laboratory|Children's_Hospital_of_Eastern_Ontario_(CHEO):327253|Illumina_Clinical_Services_Laboratory|Illumina:7733;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000256.3:c.786C>T;Coding_region_change_in_longest_transcript=,NM_000256.3:c.786C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0169;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1352;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,60;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,MYBPC3:4607;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:4607;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:4607;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:7551;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:7551;Homo_sapiens_refseq_GRCh37.p13_Genes=,MYBPC3;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_000256.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene23074;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna33477;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:600958;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:600958;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene23074;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,47369443;RS_dbsnp_common_v150_hg19_refseq=,11570058;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,50;Read_coverage=,145;Read_direction_test_probability=,0.16233637039904047;Read_position_test_probability=,0.2572785296371364;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_000256.3;Reverse_read_coverage=,85;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0532;SF=5,24,27,28;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.925476|0.0745243;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050168000305150537100100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.0408163;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.146018;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.0235294;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.0284091;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0465116;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.0277778;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.05;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.013986;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.113636;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0265487;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.125;db_xref=,GeneID:4607|HGNC:HGNC:7551|MIM:600958;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_000256.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,myosin_binding_protein_C|_cardiac;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MYBPC3;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MYBPC3;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1MM|CMH4|FHC|LVNC10|MYBP-C;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,myosin_binding_protein_C|_cardiac;transcript_id=,NM_000256.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYBPC3:NM_000256:exon7:c.C786T:p.T262T;cytoBand=11p11.2;genomicSuperDups=.;esp6500siv2_all=0.0933;esp6500siv2_ea=0.1184;esp6500siv2_all=0.0933;esp6500siv2_ea=0.1184;1000g2015aug_all=0.0611022;avsnp147=rs11570058;Kaviar_AF=0.0725993;Kaviar_AC=11224;Kaviar_AN=154602;ExAC_ALL=0.1542;ExAC_AFR=0.0737;ExAC_AMR=0.1264;ExAC_EAS=0.0410;ExAC_FIN=0.3043;ExAC_NFE=0.2120;ExAC_OTH=0.1164;ExAC_SAS=0.0824;CLNALLELEID=51963;CLNDN=Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1861862,OMIM:115197|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0655;dpsi_zscore=-0.330;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0901;gnomAD_exome_AFR=0.0422;gnomAD_exome_AMR=0.0453;gnomAD_exome_ASJ=0.0931;gnomAD_exome_EAS=0.0160;gnomAD_exome_FIN=0.1143;gnomAD_exome_NFE=0.1256;gnomAD_exome_OTH=0.1013;gnomAD_exome_SAS=0.0665;gnomAD_genome_ALL=0.0890;gnomAD_genome_AFR=0.0402;gnomAD_genome_AMR=0.0501;gnomAD_genome_ASJ=0.0861;gnomAD_genome_EAS=0.0192;gnomAD_genome_FIN=0.1229;gnomAD_genome_NFE=0.1173;gnomAD_genome_OTH=0.1207;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 . . . . . 1:128:0,48 . . . . . . . . . . . . . . . . . . 1:163:0,82 . . 1:175:0,77 1:187:0,87 . . . . . . . . . . . . . 11 47370041 42786;rs3729989 T C 200.00 . #_unique_end_positions=,47;#_unique_start_positions=,39;AC=4;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0431;AF_ESP_clinvar_20171029_hg19=,0.1034;AF_EXAC_clinvar_20171029_hg19=,0.10790;AF_TGP_clinvar_20171029_hg19=,0.0671;ALLELEID_clinvar_20171029_hg19=,51956;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0836;AN=4;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_000247.2:p.Ser236Gly;Amino_acid_change_in_longest_transcript=,NP_000247.2:p.Ser236Gly;BaseQRankSum=,0.01;CAF_dbsnp_common_v150_hg19_refseq=,0.9329|0.06709;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664|MedGen:C4021133|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant;CLNHGVS_clinvar_20171029_hg19=,NC_000011.9:g.47370041T>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Genetics_Diagnostic_Laboratory|Children's_Hospital_of_Eastern_Ontario_(CHEO):326807|HGMD:CM043536|Illumina_Clinical_Services_Laboratory|Illumina:7759|UniProtKB_(protein):Q14896#VAR_020086;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000256.3:c.706A>G;Coding_region_change_in_longest_transcript=,NM_000256.3:c.706A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0268;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1412;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,40;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,MYBPC3:4607;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:4607;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:4607;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:7551;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:7551;Homo_sapiens_refseq_GRCh37.p13_Genes=,MYBPC3;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_000256.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene23074;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna33477;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:600958;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:600958;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene23074;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,47370041;RS_dbsnp_common_v150_hg19_refseq=,3729989;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,69;Read_coverage=,138;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9308924682500812;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_000256.3;Reverse_read_coverage=,98;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0532;SF=5,24,27,28;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.918538|0.0814616;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050168000a05150537100100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.0510204;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.141593;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.0243902;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.0352941;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.0284091;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0813954;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.00581395;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.0888889;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.06;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.160839;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.119318;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.039823;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.859;db_xref=,GeneID:4607|HGNC:HGNC:7551|MIM:600958;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_000256.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,myosin_binding_protein_C|_cardiac;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MYBPC3;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MYBPC3;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1MM|CMH4|FHC|LVNC10|MYBP-C;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,myosin_binding_protein_C|_cardiac;transcript_id=,NM_000256.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYBPC3:NM_000256:exon6:c.A706G:p.S236G;cytoBand=11p11.2;genomicSuperDups=.;esp6500siv2_all=0.1034;esp6500siv2_ea=0.1263;esp6500siv2_all=0.1034;esp6500siv2_ea=0.1263;1000g2015aug_all=0.0670927;avsnp147=rs3729989;Kaviar_AF=0.100898;Kaviar_AC=15599;Kaviar_AN=154602;ExAC_ALL=0.1079;ExAC_AFR=0.0621;ExAC_AMR=0.0481;ExAC_EAS=0.0308;ExAC_FIN=0.1390;ExAC_NFE=0.1393;ExAC_OTH=0.1052;ExAC_SAS=0.0753;CLNALLELEID=51956;CLNDN=Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1861862,OMIM:115197|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.999;MutationTaster_pred=P;MutationAssessor_score=-1.655;MutationAssessor_pred=N;FATHMM_score=-0.3;FATHMM_pred=T;PROVEAN_score=2.16;PROVEAN_pred=N;VEST3_score=0.048;CADD_raw=0.243;CADD_phred=5.127;DANN_score=0.220;fathmm-MKL_coding_score=0.031;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.055;MetaSVM_pred=T;MetaLR_score=0.001;MetaLR_pred=T;integrated_fitCons_score=0.403;integrated_confidence_value=0;GERP++_RS=5.12;phyloP7way_vertebrate=0.002;phyloP20way_mammalian=-0.420;phastCons7way_vertebrate=0.719;phastCons20way_mammalian=0.448;SiPhy_29way_logOdds=13.832;GDI_full_10282015=.;dpsi_max_tissue=0.4928;dpsi_zscore=1.125;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM043536#"Cardiomyopathy_hypertrophic";gnomAD_exome_ALL=0.0969;gnomAD_exome_AFR=0.0539;gnomAD_exome_AMR=0.0459;gnomAD_exome_ASJ=0.1067;gnomAD_exome_EAS=0.0293;gnomAD_exome_FIN=0.1203;gnomAD_exome_NFE=0.1305;gnomAD_exome_OTH=0.1105;gnomAD_exome_SAS=0.0680;gnomAD_genome_ALL=0.0957;gnomAD_genome_AFR=0.0535;gnomAD_genome_AMR=0.0513;gnomAD_genome_ASJ=0.0933;gnomAD_genome_EAS=0.0321;gnomAD_genome_FIN=0.1262;gnomAD_genome_NFE=0.1209;gnomAD_genome_OTH=0.1235;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 . . . . . 1:117:0,60 . . . . . . . . . . . . . . . . . . 1:147:0,74 . . 1:131:0,72 1:161:0,81 . . . . . . . . . . . . . 11 47371442 42768;rs11570051 G A 200.00 . #_unique_end_positions=,67;#_unique_start_positions=,69;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0015;AF_ESP_clinvar_20171029_hg19=,0.0341;AF_EXAC_clinvar_20171029_hg19=,0.04545;AF_TGP_clinvar_20171029_hg19=,0.0250;ALLELEID_clinvar_20171029_hg19=,51938;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0764;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.73;CAF_dbsnp_common_v150_hg19_refseq=,0.975|0.02496;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664|MedGen:C4021133|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant;CLNHGVS_clinvar_20171029_hg19=,NC_000011.9:g.47371442G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Genetics_Diagnostic_Laboratory|Children's_Hospital_of_Eastern_Ontario_(CHEO):325949|Illumina_Clinical_Services_Laboratory|Illumina:7790;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000256.3:c.537C>T;Coding_region_change_in_longest_transcript=,NM_000256.3:c.537C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0050;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0408;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,168;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,MYBPC3:4607;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:4607;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:4607;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:7551;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:7551;Homo_sapiens_refseq_GRCh37.p13_Genes=,MYBPC3;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_000256.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene23074;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna33477;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:600958;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:600958;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene23074;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,47371442;RS_dbsnp_common_v150_hg19_refseq=,11570051;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,155;Read_coverage=,322;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.7432803635995944;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_000256.3;Reverse_read_coverage=,154;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0245;SF=17;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.972354|0.0276461;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128000305150136000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.271;db_xref=,GeneID:4607|HGNC:HGNC:7551|MIM:600958;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_000256.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,myosin_binding_protein_C|_cardiac;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MYBPC3;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MYBPC3;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1MM|CMH4|FHC|LVNC10|MYBP-C;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,myosin_binding_protein_C|_cardiac;transcript_id=,NM_000256.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYBPC3:NM_000256:exon5:c.C537T:p.A179A;cytoBand=11p11.2;genomicSuperDups=.;esp6500siv2_all=0.0341;esp6500siv2_ea=0.0463;esp6500siv2_all=0.0341;esp6500siv2_ea=0.0463;1000g2015aug_all=0.0249601;avsnp147=rs11570051;Kaviar_AF=0.0392039;Kaviar_AC=6061;Kaviar_AN=154602;ExAC_ALL=0.0455;ExAC_AFR=0.0100;ExAC_AMR=0.0920;ExAC_EAS=0.0026;ExAC_FIN=0.0657;ExAC_NFE=0.0501;ExAC_OTH=0.0464;ExAC_SAS=0.0284;CLNALLELEID=51938;CLNDN=Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1861862,OMIM:115197|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0442;dpsi_zscore=-0.238;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0451;gnomAD_exome_AFR=0.0092;gnomAD_exome_AMR=0.0833;gnomAD_exome_ASJ=0.0508;gnomAD_exome_EAS=0.0017;gnomAD_exome_FIN=0.0529;gnomAD_exome_NFE=0.0478;gnomAD_exome_OTH=0.0443;gnomAD_exome_SAS=0.0273;gnomAD_genome_ALL=0.0351;gnomAD_genome_AFR=0.0087;gnomAD_genome_AMR=0.0740;gnomAD_genome_ASJ=0.0629;gnomAD_genome_EAS=0.0018;gnomAD_genome_FIN=0.0501;gnomAD_genome_NFE=0.0470;gnomAD_genome_OTH=0.0480;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . 1:298:0,146 . . . . . . . . . . . . . . . . . . . . . . . . 11 47371578 42760;rs3218719 G A 200.00 . #_unique_end_positions=,61;#_unique_start_positions=,57;AC=3;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0008;AF_ESP_clinvar_20171029_hg19=,0.0224;AF_EXAC_clinvar_20171029_hg19=,0.02879;AF_TGP_clinvar_20171029_hg19=,0.0084;ALLELEID_clinvar_20171029_hg19=,51930;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0115;AN=3;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-1.04;CAF_dbsnp_common_v150_hg19_refseq=,0.9916|0.008387;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664|MedGen:C4021133|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant;CLNHGVS_clinvar_20171029_hg19=,NC_000011.9:g.47371578G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Genetics_Diagnostic_Laboratory|Children's_Hospital_of_Eastern_Ontario_(CHEO):325628|Illumina_Clinical_Services_Laboratory|Illumina:79344;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000256.3:c.492C>T;Coding_region_change_in_longest_transcript=,NM_000256.3:c.492C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0298;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,23;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,MYBPC3:4607;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:4607;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:4607;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:7551;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:7551;Homo_sapiens_refseq_GRCh37.p13_Genes=,MYBPC3;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_000256.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene23074;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna33477;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:600958;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:600958;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene23074;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,47371578;RS_dbsnp_common_v150_hg19_refseq=,3218719;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,135;Read_coverage=,302;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9691769332727342;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_000256.3;Reverse_read_coverage=,279;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0031;SF=29,33,40;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.981146|0.0188543;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050168000305050536100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.996;db_xref=,GeneID:4607|HGNC:HGNC:7551|MIM:600958;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_000256.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,myosin_binding_protein_C|_cardiac;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MYBPC3;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MYBPC3;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1MM|CMH4|FHC|LVNC10|MYBP-C;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,myosin_binding_protein_C|_cardiac;transcript_id=,NM_000256.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYBPC3:NM_000256:exon4:c.C492T:p.G164G;cytoBand=11p11.2;genomicSuperDups=.;esp6500siv2_all=0.0224;esp6500siv2_ea=0.0307;esp6500siv2_all=0.0224;esp6500siv2_ea=0.0307;1000g2015aug_all=0.00838658;avsnp147=rs3218719;Kaviar_AF=0.015168;Kaviar_AC=2345;Kaviar_AN=154602;ExAC_ALL=0.0288;ExAC_AFR=0.0067;ExAC_AMR=0.0467;ExAC_EAS=0.0011;ExAC_FIN=0.0545;ExAC_NFE=0.0487;ExAC_OTH=0.0092;ExAC_SAS=0.0070;CLNALLELEID=51930;CLNDN=Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1861862,OMIM:115197|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.2801;dpsi_zscore=-0.823;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0206;gnomAD_exome_AFR=0.0051;gnomAD_exome_AMR=0.0141;gnomAD_exome_ASJ=0.0340;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0.0226;gnomAD_exome_NFE=0.0318;gnomAD_exome_OTH=0.0197;gnomAD_exome_SAS=0.0052;gnomAD_genome_ALL=0.0207;gnomAD_genome_AFR=0.0053;gnomAD_genome_AMR=0.0191;gnomAD_genome_ASJ=0.0232;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0261;gnomAD_genome_NFE=0.0302;gnomAD_genome_OTH=0.0276;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:300:0,134 . . . 1:227:0,107 . . . . . . 1:185:0,87 . 11 47371598 42758;rs3729986 C T 200.00 . #_unique_end_positions=,44;#_unique_start_positions=,36;AC=10;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0030;AF_ESP_clinvar_20171029_hg19=,0.0637;AF_EXAC_clinvar_20171029_hg19=,0.09043;AF_TGP_clinvar_20171029_hg19=,0.0330;ALLELEID_clinvar_20171029_hg19=,51928;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0418;AN=10;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_000247.2:p.Val158Met;Amino_acid_change_in_longest_transcript=,NP_000247.2:p.Val158Met;BaseQRankSum=,-0.14;CAF_dbsnp_common_v150_hg19_refseq=,0.9671|0.03295;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664|MedGen:C4021133|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant;CLNHGVS_clinvar_20171029_hg19=,NC_000011.9:g.47371598C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Genetics_Diagnostic_Laboratory|Children's_Hospital_of_Eastern_Ontario_(CHEO):325546|Illumina_Clinical_Services_Laboratory|Illumina:7787|UniProtKB_(protein):Q14896#VAR_020085;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000256.3:c.472G>A;Coding_region_change_in_longest_transcript=,NM_000256.3:c.472G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1064;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,32;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,MYBPC3:4607;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:4607;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:4607;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:7551;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:7551;Homo_sapiens_refseq_GRCh37.p13_Genes=,MYBPC3;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_000256.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene23074;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna33477;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:600958;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:600958;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene23074;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,47371598;RS_dbsnp_common_v150_hg19_refseq=,3729986;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,92;Read_coverage=,194;Read_direction_test_probability=,0.9806692491398917;Read_position_test_probability=,0.7371743215826435;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_000256.3;Reverse_read_coverage=,162;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0256;SF=3,6,8,9,15,20,33,34,37,39;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.933752|0.0662477;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050168000a05150537100100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0775862;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.995;db_xref=,GeneID:4607|HGNC:HGNC:7551|MIM:600958;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_000256.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,myosin_binding_protein_C|_cardiac;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MYBPC3;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MYBPC3;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1MM|CMH4|FHC|LVNC10|MYBP-C;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,myosin_binding_protein_C|_cardiac;transcript_id=,NM_000256.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYBPC3:NM_000256:exon4:c.G472A:p.V158M;cytoBand=11p11.2;genomicSuperDups=.;esp6500siv2_all=0.0637;esp6500siv2_ea=0.0864;esp6500siv2_all=0.0637;esp6500siv2_ea=0.0864;1000g2015aug_all=0.0329473;avsnp147=rs3729986;Kaviar_AF=0.0469787;Kaviar_AC=7263;Kaviar_AN=154602;ExAC_ALL=0.0904;ExAC_AFR=0.0192;ExAC_AMR=0.0833;ExAC_EAS=0;ExAC_FIN=0.1634;ExAC_NFE=0.1402;ExAC_OTH=0.0875;ExAC_SAS=0.0372;CLNALLELEID=51928;CLNDN=Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1861862,OMIM:115197|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.003;SIFT_pred=D;Polyphen2_HDIV_score=0.816;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.45;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_pred=.;MutationTaster_score=0.853;MutationTaster_pred=N;MutationAssessor_score=1.795;MutationAssessor_pred=L;FATHMM_score=-0.56;FATHMM_pred=T;PROVEAN_score=-1.36;PROVEAN_pred=N;VEST3_score=0.075;CADD_raw=4.662;CADD_phred=24.5;DANN_score=0.996;fathmm-MKL_coding_score=0.789;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.023;MetaSVM_pred=T;MetaLR_score=0.011;MetaLR_pred=T;integrated_fitCons_score=0.403;integrated_confidence_value=0;GERP++_RS=1.52;phyloP7way_vertebrate=-0.299;phyloP20way_mammalian=-0.437;phastCons7way_vertebrate=0.989;phastCons20way_mammalian=0.954;SiPhy_29way_logOdds=13.427;GDI_full_10282015=.;dpsi_max_tissue=0.0798;dpsi_zscore=0.417;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0652;gnomAD_exome_AFR=0.0128;gnomAD_exome_AMR=0.0389;gnomAD_exome_ASJ=0.0739;gnomAD_exome_EAS=0.0003;gnomAD_exome_FIN=0.1003;gnomAD_exome_NFE=0.0933;gnomAD_exome_OTH=0.0721;gnomAD_exome_SAS=0.0341;gnomAD_genome_ALL=0.0702;gnomAD_genome_AFR=0.0196;gnomAD_genome_AMR=0.0516;gnomAD_genome_ASJ=0.0828;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.1005;gnomAD_genome_NFE=0.1009;gnomAD_genome_OTH=0.0723;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 . . . 1:186:0,87 . . 1:140:0,73 . 1:199:0,106 1:209:0,96 . . . . . 1:197:0,102 . . . . 1:182:0,87 . . . . . . . . . . . . 1:220:0,112 1:234:0,103 . . 1:162:0,87 . 1:200:0,88 . . 11 74168411 259778;rs2270676 A G 200.00 . #_unique_end_positions=,41;#_unique_start_positions=,39;AC=9;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1241;AF_ESP_clinvar_20171029_hg19=,0.1141;AF_EXAC_clinvar_20171029_hg19=,0.13359;AF_TGP_clinvar_20171029_hg19=,0.1412;ALLELEID_clinvar_20171029_hg19=,254321;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0879;AN=9;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.24;CAF_dbsnp_common_v150_hg19_refseq=,0.8588|0.1412;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1142166|Orphanet:ORPHA130|SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736;CLNDN_clinvar_20171029_hg19=,Brugada_syndrome|not_specified|Cardiovascular_phenotype;CLNHGVS_clinvar_20171029_hg19=,NC_000011.9:g.74168411A>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:8304;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_005472.4:c.198T>C;Coding_region_change_in_longest_transcript=,NM_005472.4:c.198T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1627;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1103;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,90;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,KCNE3:10008;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:10008;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:10008;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:6243;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:6243;Homo_sapiens_refseq_GRCh37.p13_Genes=,KCNE3;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_005472.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene23910;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna34649;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:604433;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:604433;MTP_dbsnp_common_v150_hg19_refseq=,MTP;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene23910;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,74168411;RS_dbsnp_common_v150_hg19_refseq=,2270676;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,68;Read_coverage=,145;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9215060843124885;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_005472.4;Reverse_read_coverage=,55;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2117;SF=3,9,10,13,19,23,37,38;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.877739|0.122261;TPA_dbsnp_common_v150_hg19_refseq=,TPA;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05013800030517053f020100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.102041;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.116667;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.158537;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.164706;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.204545;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.133333;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.2;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.133333;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.11;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.0909091;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.107955;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.1;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.997;db_xref=,GeneID:10008|HGNC:HGNC:6243|MIM:604433;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:07256;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_005472.4|HPRD:07256;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,potassium_voltage-gated_channel_subfamily_E_regulatory_subunit_3;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,KCNE3;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,KCNE3;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HOKPP|HYPP|MiRP2;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,potassium_voltage-gated_channel_subfamily_E_regulatory_subunit_3;transcript_id=,NM_005472.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KCNE3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCNE3:NM_005472:exon3:c.T198C:p.F66F;cytoBand=11q13.4;genomicSuperDups=.;esp6500siv2_all=0.1141;esp6500siv2_ea=0.1084;esp6500siv2_all=0.1141;esp6500siv2_ea=0.1084;1000g2015aug_all=0.141174;avsnp147=rs2270676;Kaviar_AF=0.128297;Kaviar_AC=19835;Kaviar_AN=154602;ExAC_ALL=0.1336;ExAC_AFR=0.1306;ExAC_AMR=0.0873;ExAC_EAS=0.1281;ExAC_FIN=0.2147;ExAC_NFE=0.1151;ExAC_OTH=0.1501;ExAC_SAS=0.2119;CLNALLELEID=254321;CLNDN=Brugada_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM057459#"Meniere's_disease_association_with";gnomAD_exome_ALL=0.1325;gnomAD_exome_AFR=0.1290;gnomAD_exome_AMR=0.0875;gnomAD_exome_ASJ=0.1105;gnomAD_exome_EAS=0.1294;gnomAD_exome_FIN=0.2192;gnomAD_exome_NFE=0.1106;gnomAD_exome_OTH=0.1275;gnomAD_exome_SAS=0.2092;gnomAD_genome_ALL=0.1388;gnomAD_genome_AFR=0.1190;gnomAD_genome_AMR=0.0871;gnomAD_genome_ASJ=0.0927;gnomAD_genome_EAS=0.1401;gnomAD_genome_FIN=0.2310;gnomAD_genome_NFE=0.1314;gnomAD_genome_OTH=0.1568;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . 1:125:0,58 . . . . . 1:126:0,51 1:163:0,76 . . 1:149:0,74 . . . . . 1/1:155:0,155 . . . 1:199:0,94 . . . . . . . . . . . . . 1:91:0,41 1:113:0,51 . . . 11 74168493 rs34604640 G C 200.00 . #_unique_end_positions=,43;#_unique_start_positions=,38;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0014;AN=1;Amino_acid_change=,NP_005463.1:p.Pro39Arg;Amino_acid_change_in_longest_transcript=,NP_005463.1:p.Pro39Arg;BaseQRankSum=,0.0;Coding_region_change=,NM_005472.4:c.116C>G;Coding_region_change_in_longest_transcript=,NM_005472.4:c.116C>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;Exact_match=,1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,31;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:10008;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:10008;Genotype=,C/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:6243;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:6243;Homo_sapiens_refseq_GRCh37.p13_Genes=,KCNE3;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_005472.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene23910;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna34649;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:604433;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:604433;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene23910;QUAL=,200.0;Read_count=,58;Read_coverage=,134;Read_direction_test_probability=,0.9564306465858653;Read_position_test_probability=,0.8895065951052349;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_005472.4;Reverse_read_coverage=,103;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=2;conservation_score=,0.938;db_xref=,GeneID:10008|HGNC:HGNC:6243|MIM:604433;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:07256;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_005472.4|HPRD:07256;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,potassium_voltage-gated_channel_subfamily_E_regulatory_subunit_3;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,KCNE3;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,KCNE3;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HOKPP|HYPP|MiRP2;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,potassium_voltage-gated_channel_subfamily_E_regulatory_subunit_3;transcript_id=,NM_005472.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KCNE3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=KCNE3:NM_005472:exon3:c.C116G:p.P39R;cytoBand=11q13.4;genomicSuperDups=.;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=0.000199681;avsnp147=rs34604640;Kaviar_AF=0.0001035;Kaviar_AC=16;Kaviar_AN=154602;ExAC_ALL=0.0001;ExAC_AFR=0;ExAC_AMR=0.0002;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0001;ExAC_OTH=0;ExAC_SAS=0.0001;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.419;SIFT_pred=T;Polyphen2_HDIV_score=0.395;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.334;Polyphen2_HVAR_pred=B;LRT_score=0.088;LRT_pred=N;MutationTaster_score=0.957;MutationTaster_pred=N;MutationAssessor_score=1.61;MutationAssessor_pred=L;FATHMM_score=-1.12;FATHMM_pred=T;PROVEAN_score=-1.05;PROVEAN_pred=N;VEST3_score=0.206;CADD_raw=0.965;CADD_phred=10.46;DANN_score=0.992;fathmm-MKL_coding_score=0.883;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.486;MetaSVM_pred=T;MetaLR_score=0.517;MetaLR_pred=D;integrated_fitCons_score=0.615;integrated_confidence_value=0;GERP++_RS=3.35;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.546;phastCons20way_mammalian=0.983;SiPhy_29way_logOdds=8.248;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0001;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0002;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0001;gnomAD_exome_OTH=0;gnomAD_exome_SAS=6.501e-05;gnomAD_genome_ALL=6.461e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0001;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:DP:CLCAD2 . . 1:129:0,56 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 11 111782284 44233;rs2228387 C T 99.73 . #_unique_end_positions=,18;#_unique_start_positions=,21;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0165;AF_EXAC_clinvar_20171029_hg19=,0.01935;AF_TGP_clinvar_20171029_hg19=,0.0092;ALLELEID_clinvar_20171029_hg19=,53400;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0115;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.76;CAF_dbsnp_common_v150_hg19_refseq=,0.9908|.|0.009185;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001115|MedGen:C1850191|MedGen:C1837317|OMIM:608810|Orphanet:ORPHA98910|MedGen:C3554649|OMIM:615184|MedGen:CN169374|MedGen:CN230736|MedGen:CN239446;CLNDN_clinvar_20171029_hg19=,Posterior_polar_cataract|Alpha-B_crystallinopathy|Dilated_cardiomyopathy_1II|not_specified|Cardiovascular_phenotype|Myofibrillar_Myopathy|_Dominant;CLNHGVS_clinvar_20171029_hg19=,NC_000011.9:g.111782284C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:61013;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001289807.1:c.165G>A|_NM_001289808.1:c.165G>A|_NM_001330379.1:c.-890G>A|_NM_001541.3:c.-1270C>T|_NM_001885.2:c.165G>A;Coding_region_change_in_longest_transcript=,NM_001885.2:c.165G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0189;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,45;GENEINFO_dbsnp_common_v150_hg19_refseq=,HSPB2-C11orf52:100528019|HSPB2:3316|CRYAB:1410;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:1410;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:1410;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:2389;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:2389;Homo_sapiens_refseq_GRCh37.p13_Genes=,CRYAB;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001289808.1|NM_001885.2|NM_001289807.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene24337;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna35193|rna35192|rna35191;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001636|2KB_upstream_variant|SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:123590;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:123590;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene24337;QUAL=,99.72519444812795;R5_dbsnp_common_v150_hg19_refseq=,R5;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,111782284;RS_dbsnp_common_v150_hg19_refseq=,2228387;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,26;Read_coverage=,85;Read_direction_test_probability=,0.8473840761678948;Read_position_test_probability=,0.9229267694304314;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001289808.1|NM_001885.2|NM_001289807.1;Reverse_read_coverage=,40;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0194;SF=0;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05032802030504053e000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:1410|HGNC:HGNC:2389|MIM:123590;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001289808.1|Genbank:NM_001885.2|Genbank:NM_001289807.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,crystallin_alpha_B;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CRYAB;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,CRYAB;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1II|CRYA2|CTPP2|CTRCT16|HEL-S-101|HSPB5|MFM2;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,crystallin_alpha_B|_transcript_variant_3|crystallin_alpha_B|_transcript_variant_1|crystallin_alpha_B|_transcript_variant_2;transcript_id=,NM_001289808.1|NM_001885.2|NM_001289807.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CRYAB;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CRYAB:NM_001289808:exon1:c.G165A:p.L55L,CRYAB:NM_001289807:exon2:c.G165A:p.L55L,CRYAB:NM_001885:exon2:c.G165A:p.L55L;cytoBand=11q23.1;genomicSuperDups=.;esp6500siv2_all=0.0165;esp6500siv2_ea=0.0226;esp6500siv2_all=0.0165;esp6500siv2_ea=0.0226;1000g2015aug_all=0.0091853;avsnp147=rs2228387;Kaviar_AF=0.0158148;Kaviar_AC=2445;Kaviar_AN=154602;ExAC_ALL=0.0193;ExAC_AFR=0.0040;ExAC_AMR=0.0054;ExAC_EAS=0.0003;ExAC_FIN=0.0209;ExAC_NFE=0.0232;ExAC_OTH=0.0176;ExAC_SAS=0.0315;CLNALLELEID=53400;CLNDN=Posterior_polar_cataract|Alpha-B_crystallinopathy|Dilated_cardiomyopathy_1II|not_specified|Cardiovascular_phenotype|Myofibrillar_Myopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001115,MedGen:C1850191|MedGen:C1837317,OMIM:608810,Orphanet:ORPHA399058|MedGen:C3554649,OMIM:615184|MedGen:CN169374|MedGen:CN230736|MedGen:CN239446;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.2716;dpsi_zscore=0.849;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0155;gnomAD_exome_AFR=0.0027;gnomAD_exome_AMR=0.0048;gnomAD_exome_ASJ=0.0065;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0.0160;gnomAD_exome_NFE=0.0206;gnomAD_exome_OTH=0.0144;gnomAD_exome_SAS=0.0263;gnomAD_genome_ALL=0.0134;gnomAD_genome_AFR=0.0037;gnomAD_genome_AMR=0.0060;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0140;gnomAD_genome_NFE=0.0210;gnomAD_genome_OTH=0.0133;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-10 GT:DP:CLCAD2 1:74:0,23 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 11 118011998 . C G 200.00 . #_unique_end_positions=,35;#_unique_start_positions=,29;AC=1;AN=1;Amino_acid_change=,NP_777594.1:p.Val173Leu|_NP_001135820.1:p.Val39Leu|_NP_001135821.1:p.Val63Leu;Amino_acid_change_in_longest_transcript=,NP_777594.1:p.Val173Leu;BaseQRankSum=,0.0;Coding_region_change=,NM_001142348.1:c.115G>C|_NM_001142349.1:c.187G>C|_NM_174934.3:c.517G>C;Coding_region_change_in_longest_transcript=,NM_174934.3:c.517G>C;Forward_read_coverage=,48;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:6330;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:6330;Genotype=,C/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:10592;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:10592;Homo_sapiens_refseq_GRCh37.p13_Genes=,SCN4B;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001142349.1|NM_001142348.1|NM_174934.3|NR_024527.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene24438;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna35378|rna35375|rna35376|rna35377;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608256;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608256;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene24438;QUAL=,200.0;Read_count=,52;Read_coverage=,106;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.7868043672520232;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001142349.1|NM_001142348.1|NM_174934.3|NR_024527.1;Reverse_read_coverage=,58;SF=34;conservation_score=,1.0;db_xref=,GeneID:6330|HGNC:HGNC:10592|MIM:608256;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:09749;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001142349.1|HPRD:09749|Genbank:NM_001142348.1|Genbank:NM_174934.3|Genbank:NR_024527.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,sodium_voltage-gated_channel_beta_subunit_4;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA|misc_RNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SCN4B;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SCN4B;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ATFB17|LQT10|Navbeta4;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,sodium_voltage-gated_channel_beta_subunit_4|_transcript_variant_3|sodium_voltage-gated_channel_beta_subunit_4|_transcript_variant_2|sodium_voltage-gated_channel_beta_subunit_4|_transcript_variant_1|sodium_voltage-gated_channel_beta_subunit_4|_transcript_variant_4;transcript_id=,NM_001142349.1|NM_001142348.1|NM_174934.3|NR_024527.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA|transcript;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SCN4B;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN4B:NM_001142348:exon2:c.G115C:p.V39L,SCN4B:NM_001142349:exon3:c.G187C:p.V63L,SCN4B:NM_174934:exon4:c.G517C:p.V173L;cytoBand=11q23.3;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs773855642;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;ExAC_ALL=1.648e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=2.998e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.517;SIFT_pred=T;Polyphen2_HDIV_score=0.012;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.006;Polyphen2_HVAR_pred=B;LRT_score=0.010;LRT_pred=U;MutationTaster_score=0.958;MutationTaster_pred=D;MutationAssessor_score=0.255;MutationAssessor_pred=N;FATHMM_score=-1.72;FATHMM_pred=D;PROVEAN_score=-0.69;PROVEAN_pred=N;VEST3_score=0.171;CADD_raw=0.800;CADD_phred=9.467;DANN_score=0.868;fathmm-MKL_coding_score=0.535;fathmm-MKL_coding_pred=D;MetaSVM_score=0.013;MetaSVM_pred=D;MetaLR_score=0.710;MetaLR_pred=D;integrated_fitCons_score=0.615;integrated_confidence_value=0;GERP++_RS=1.05;phyloP7way_vertebrate=-0.064;phyloP20way_mammalian=0.850;phastCons7way_vertebrate=0.439;phastCons20way_mammalian=0.962;SiPhy_29way_logOdds=8.973;GDI_full_10282015=.;dpsi_max_tissue=0.2166;dpsi_zscore=0.754;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=8.122e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=1.791e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=7 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:87:0,42 . . . . . . . 11 118015832 139037;rs45539032 G A 200.00 . #_unique_end_positions=,54;#_unique_start_positions=,41;AC=3;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0431;AF_ESP_clinvar_20171029_hg19=,0.0368;AF_EXAC_clinvar_20171029_hg19=,0.03491;AF_TGP_clinvar_20171029_hg19=,0.0349;ALLELEID_clinvar_20171029_hg19=,142740;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0288;AN=3;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-1.67;CAF_dbsnp_common_v150_hg19_refseq=,0.9651|0.03494;CLNDISDB_clinvar_20171029_hg19=,MeSH:D008133|MedGen:C0023976|SNOMED_CT:9651007|MedGen:C2678484|OMIM:611819|MedGen:CN119492|SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736;CLNDN_clinvar_20171029_hg19=,Long_QT_syndrome|Long_QT_syndrome_10|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype;CLNHGVS_clinvar_20171029_hg19=,NC_000011.9:g.118015832G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:61064;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001142348.1:c.62-3781C>T|_NM_001142349.1:c.-157C>T|_NM_174934.3:c.174C>T;Coding_region_change_in_longest_transcript=,NM_174934.3:c.174C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0248;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0378;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,133;GENEINFO_dbsnp_common_v150_hg19_refseq=,SCN4B:6330;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:6330;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:6330;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:10592;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:10592;Homo_sapiens_refseq_GRCh37.p13_Genes=,SCN4B;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001142349.1|NM_174934.3|NR_024527.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene24438;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna35378|rna35376|rna35377;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001623|5_prime_UTR_variant|SO:0001627|intron_variant|SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608256;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608256;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene24438;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,118015832;RS_dbsnp_common_v150_hg19_refseq=,45539032;Read_count=,88;Read_coverage=,192;Read_direction_test_probability=,0.9998787952246803;Read_position_test_probability=,0.9996616493017182;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001142349.1|NM_174934.3|NR_024527.1;Reverse_read_coverage=,59;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0358;SF=10,30,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.962291|0.0377086;TPA_dbsnp_common_v150_hg19_refseq=,TPA;U5_dbsnp_common_v150_hg19_refseq=,U5;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050378480305140536100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.922;db_xref=,GeneID:6330|HGNC:HGNC:10592|MIM:608256;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:09749;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001142349.1|HPRD:09749|Genbank:NM_174934.3|Genbank:NR_024527.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,sodium_voltage-gated_channel_beta_subunit_4;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA|misc_RNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SCN4B;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SCN4B;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ATFB17|LQT10|Navbeta4;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,sodium_voltage-gated_channel_beta_subunit_4|_transcript_variant_3|sodium_voltage-gated_channel_beta_subunit_4|_transcript_variant_1|sodium_voltage-gated_channel_beta_subunit_4|_transcript_variant_4;transcript_id=,NM_001142349.1|NM_174934.3|NR_024527.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA|transcript;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SCN4B;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN4B:NM_174934:exon2:c.C174T:p.C58C;cytoBand=11q23.3;genomicSuperDups=.;esp6500siv2_all=0.0368;esp6500siv2_ea=0.0374;esp6500siv2_all=0.0368;esp6500siv2_ea=0.0374;1000g2015aug_all=0.0349441;avsnp147=rs45539032;Kaviar_AF=0.0353876;Kaviar_AC=5471;Kaviar_AN=154602;ExAC_ALL=0.0349;ExAC_AFR=0.0405;ExAC_AMR=0.0267;ExAC_EAS=0.0125;ExAC_FIN=0.0133;ExAC_NFE=0.0398;ExAC_OTH=0.0419;ExAC_SAS=0.0372;CLNALLELEID=142740;CLNDN=Long_QT_syndrome|Long_QT_syndrome_10|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678484,OMIM:611819|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.3270;dpsi_zscore=0.929;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0354;gnomAD_exome_AFR=0.0403;gnomAD_exome_AMR=0.0301;gnomAD_exome_ASJ=0.0774;gnomAD_exome_EAS=0.0136;gnomAD_exome_FIN=0.0143;gnomAD_exome_NFE=0.0392;gnomAD_exome_OTH=0.0436;gnomAD_exome_SAS=0.0377;gnomAD_genome_ALL=0.0334;gnomAD_genome_AFR=0.0381;gnomAD_genome_AMR=0.0263;gnomAD_genome_ASJ=0.0530;gnomAD_genome_EAS=0.0142;gnomAD_genome_FIN=0.0152;gnomAD_genome_NFE=0.0372;gnomAD_genome_OTH=0.0295;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . . 1:172:0,81 . . . . . . . . . . . . . . . . . . . 1:170:0,75 . . . . . . . . . . 1:101:0,37 11 123513161 261028;rs1275085 G A 200.00 . #_unique_end_positions=,38;#_unique_start_positions=,30;AC=6;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0953;AF_ESP_clinvar_20171029_hg19=,0.0902;AF_EXAC_clinvar_20171029_hg19=,0.08960;AF_TGP_clinvar_20171029_hg19=,0.0821;ALLELEID_clinvar_20171029_hg19=,254022;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0634;AN=6;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.29;CAF_dbsnp_common_v150_hg19_refseq=,0.9179|0.08207|.;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1142166|Orphanet:ORPHA130|SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736;CLNDN_clinvar_20171029_hg19=,Brugada_syndrome|not_specified|Cardiovascular_phenotype;CLNHGVS_clinvar_20171029_hg19=,NC_000011.9:g.123513161G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:49396;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001040151.1:c.438C>T|_NM_018400.3:c.438C>T;Coding_region_change_in_longest_transcript=,NM_018400.3:c.438C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0040;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0984;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,78;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,SCN3B:55800;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:55800;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:55800;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:20665;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:20665;Homo_sapiens_refseq_GRCh37.p13_Genes=,SCN3B;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_018400.3|NM_001040151.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene24553;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna35589|rna35588;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608214;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608214;MTP_dbsnp_common_v150_hg19_refseq=,MTP;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene24553;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,123513161;RS_dbsnp_common_v150_hg19_refseq=,1275085;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,57;Read_coverage=,132;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9860447013194364;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_018400.3|NM_001040151.1;Reverse_read_coverage=,54;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1411;SF=8,24,26,27,30,34;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.907892|0.092108|.;TPA_dbsnp_common_v150_hg19_refseq=,TPA;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050178000305150537120100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.102041;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.102679;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.0243902;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.125;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0116279;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.105556;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.05;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.0629371;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.113636;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.110619;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.82;db_xref=,GeneID:55800|HGNC:HGNC:20665|MIM:608214;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_018400.3|Genbank:NM_001040151.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,sodium_voltage-gated_channel_beta_subunit_3;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SCN3B;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SCN3B;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ATFB16|BRGDA7|HSA243396|SCNB3;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,sodium_voltage-gated_channel_beta_subunit_3|_transcript_variant_1|sodium_voltage-gated_channel_beta_subunit_3|_transcript_variant_2;transcript_id=,NM_018400.3|NM_001040151.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SCN3B;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN3B:NM_018400:exon3:c.C438T:p.T146T,SCN3B:NM_001040151:exon4:c.C438T:p.T146T;cytoBand=11q24.1;genomicSuperDups=.;esp6500siv2_all=0.0902;esp6500siv2_ea=0.0896;esp6500siv2_all=0.0902;esp6500siv2_ea=0.0896;1000g2015aug_all=0.0820687;avsnp147=rs1275085;Kaviar_AF=0.0865254;Kaviar_AC=13377;Kaviar_AN=154602;ExAC_ALL=0.0896;ExAC_AFR=0.0932;ExAC_AMR=0.0387;ExAC_EAS=0.0024;ExAC_FIN=0.0927;ExAC_NFE=0.0915;ExAC_OTH=0.0949;ExAC_SAS=0.1595;CLNALLELEID=254022;CLNDN=Brugada_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1088;dpsi_zscore=-0.475;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0869;gnomAD_exome_AFR=0.0952;gnomAD_exome_AMR=0.0381;gnomAD_exome_ASJ=0.1333;gnomAD_exome_EAS=0.0026;gnomAD_exome_FIN=0.0937;gnomAD_exome_NFE=0.0880;gnomAD_exome_OTH=0.0887;gnomAD_exome_SAS=0.1591;gnomAD_genome_ALL=0.0853;gnomAD_genome_AFR=0.0968;gnomAD_genome_AMR=0.0335;gnomAD_genome_ASJ=0.1233;gnomAD_genome_EAS=0.0012;gnomAD_genome_FIN=0.0928;gnomAD_genome_NFE=0.0882;gnomAD_genome_OTH=0.0845;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . 1:116:0,52 . . . . . . . . . . . . . . . 1:114:0,52 . 1:104:0,45 1:109:0,52 . . 1:131:0,67 . . . 1:103:0,45 . . . . . . . 11 128781339 137990;rs6590357 T C 187.75 . #_unique_end_positions=,48;#_unique_start_positions=,42;AC=73;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.8918;ALLELEID_clinvar_20171029_hg19=,141693;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.8026;AN=73;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.05;CAF_dbsnp_common_v150_hg19_refseq=,0.1302|0.8698;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN119492|SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN229602|Orphanet:ORPHA235936;CLNDN_clinvar_20171029_hg19=,Romano-Ward_syndrome|not_specified|Familial_hyperaldosteronism;CLNHGVS_clinvar_20171029_hg19=,NC_000011.9:g.128781339T>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:9372;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000890.3:c.171T>C;Coding_region_change_in_longest_transcript=,NM_000890.3:c.171T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.8770;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.8499;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,79;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,KCNJ5:3762;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:3762;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:3762;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:6266;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:6266;Homo_sapiens_refseq_GRCh37.p13_Genes=,KCNJ5;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_000890.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene24672;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna35750;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:600734;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:600734;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene24672;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,128781339;RS_dbsnp_common_v150_hg19_refseq=,6590357;Read_count=,71;Read_coverage=,160;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9779855710429471;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_000890.3;Reverse_read_coverage=,81;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9008;SF=0,1,2,3,4,5,6,7,8,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.135792|0.864208;TPA_dbsnp_common_v150_hg19_refseq=,TPA;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05037800030515053f100100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.816327;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.823009;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.902439;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.888235;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.863636;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.930233;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.866279;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.855556;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.81;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.926573;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.897727;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.884956;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.89;db_xref=,GeneID:3762|HGNC:HGNC:6266|MIM:600734;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:09010;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_000890.3|HPRD:09010;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,potassium_voltage-gated_channel_subfamily_J_member_5;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,KCNJ5;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,KCNJ5;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CIR|GIRK4|KATP1|KIR3.4|LQT13;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,potassium_voltage-gated_channel_subfamily_J_member_5;transcript_id=,NM_000890.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KCNJ5;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCNJ5:NM_000890:exon2:c.T171C:p.S57S;cytoBand=11q24.3;genomicSuperDups=.;esp6500siv2_all=0.8483;esp6500siv2_ea=0.8250;esp6500siv2_all=0.8483;esp6500siv2_ea=0.8250;1000g2015aug_all=0.869808;avsnp147=rs6590357;Kaviar_AF=0.833178;Kaviar_AC=128811;Kaviar_AN=154602;ExAC_ALL=0.8436;ExAC_AFR=0.8982;ExAC_AMR=0.8065;ExAC_EAS=0.8790;ExAC_FIN=0.7900;ExAC_NFE=0.8296;ExAC_OTH=0.8256;ExAC_SAS=0.8953;CLNALLELEID=141693;CLNDN=Romano-Ward_syndrome|not_specified|Familial_hyperaldosteronism|Cardiovascular_phenotype;CLNDISDB=MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN229602,Orphanet:ORPHA235936|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0956;dpsi_zscore=0.470;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.8400;gnomAD_exome_AFR=0.9041;gnomAD_exome_AMR=0.8139;gnomAD_exome_ASJ=0.8466;gnomAD_exome_EAS=0.8801;gnomAD_exome_FIN=0.7931;gnomAD_exome_NFE=0.8274;gnomAD_exome_OTH=0.8384;gnomAD_exome_SAS=0.8920;gnomAD_genome_ALL=0.8476;gnomAD_genome_AFR=0.9048;gnomAD_genome_AMR=0.8162;gnomAD_genome_ASJ=0.8179;gnomAD_genome_EAS=0.8915;gnomAD_genome_FIN=0.7991;gnomAD_genome_NFE=0.8249;gnomAD_genome_OTH=0.8218;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:138:0,63 1:121:0,60 1/1:145:0,145 1/1:132:0,132 1/1:94:0,94 1/1:138:0,138 1/1:118:0,118 1:106:0,53 1:193:0,94 . 1/1:197:0,197 1:138:0,58 1:172:0,96 1/1:151:0,151 1/1:256:0,256 1/1:165:0,165 1/1:153:0,152 1/1:175:0,175 1/1:140:0,140 1/1:143:0,143 1/1:173:0,173 1/1:153:0,153 1/1:183:0,183 1/1:212:0,212 1/1:181:0,181 1/1:130:0,130 1/1:144:0,144 1/1:182:0,182 1/1:199:0,199 1/1:176:0,176 1/1:189:0,189 1/1:83:0,83 1/1:121:0,121 1/1:105:0,105 1/1:159:0,159 1:137:0,68 1:139:0,61 1/1:108:0,108 1/1:135:0,135 1/1:157:0,157 1/1:155:0,155 1:176:0,93 11 128781978 137991;rs7118824 T G 187.90 . #_unique_end_positions=,39;#_unique_start_positions=,36;AC=73;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.8805;ALLELEID_clinvar_20171029_hg19=,141694;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7997;AN=73;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.28;CAF_dbsnp_common_v150_hg19_refseq=,0.1338|0.8662;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN119492|SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN229602|Orphanet:ORPHA235936;CLNDN_clinvar_20171029_hg19=,Romano-Ward_syndrome|not_specified|Familial_hyperaldosteronism;CLNHGVS_clinvar_20171029_hg19=,NC_000011.9:g.128781978T>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:9381;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000890.3:c.810T>G;Coding_region_change_in_longest_transcript=,NM_000890.3:c.810T>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.8760;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.8479;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,47;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,KCNJ5:3762;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:3762;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:3762;Genotype=,G/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:6266;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:6266;Homo_sapiens_refseq_GRCh37.p13_Genes=,KCNJ5;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_000890.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene24672;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna35750;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:600734;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:600734;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene24672;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,128781978;RS_dbsnp_common_v150_hg19_refseq=,7118824;Read_count=,57;Read_coverage=,117;Read_direction_test_probability=,0.854285567596287;Read_position_test_probability=,0.8758634271235458;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_000890.3;Reverse_read_coverage=,70;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9029;SF=0,1,2,3,4,5,6,7,8,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.142283|0.857717;TPA_dbsnp_common_v150_hg19_refseq=,TPA;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05037800030517053f100100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.816327;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.824324;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.890244;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.888235;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.863636;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.930233;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.866279;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.855556;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.81;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.926573;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.897727;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.880531;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.997;db_xref=,GeneID:3762|HGNC:HGNC:6266|MIM:600734;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:09010;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_000890.3|HPRD:09010;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,potassium_voltage-gated_channel_subfamily_J_member_5;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,KCNJ5;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,KCNJ5;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CIR|GIRK4|KATP1|KIR3.4|LQT13;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,potassium_voltage-gated_channel_subfamily_J_member_5;transcript_id=,NM_000890.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KCNJ5;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCNJ5:NM_000890:exon2:c.T810G:p.L270L;cytoBand=11q24.3;genomicSuperDups=.;esp6500siv2_all=0.8427;esp6500siv2_ea=0.8216;esp6500siv2_all=0.8427;esp6500siv2_ea=0.8216;1000g2015aug_all=0.866214;avsnp147=rs7118824;Kaviar_AF=0.829368;Kaviar_AC=128222;Kaviar_AN=154602;ExAC_ALL=0.8414;ExAC_AFR=0.8897;ExAC_AMR=0.8056;ExAC_EAS=0.8791;ExAC_FIN=0.7893;ExAC_NFE=0.8277;ExAC_OTH=0.8234;ExAC_SAS=0.8940;CLNALLELEID=141694;CLNDN=Romano-Ward_syndrome|not_specified|Familial_hyperaldosteronism|Cardiovascular_phenotype;CLNDISDB=MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN229602,Orphanet:ORPHA235936|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0084;dpsi_zscore=-0.026;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.8381;gnomAD_exome_AFR=0.8941;gnomAD_exome_AMR=0.8135;gnomAD_exome_ASJ=0.8465;gnomAD_exome_EAS=0.8800;gnomAD_exome_FIN=0.7928;gnomAD_exome_NFE=0.8250;gnomAD_exome_OTH=0.8357;gnomAD_exome_SAS=0.8909;gnomAD_genome_ALL=0.8424;gnomAD_genome_AFR=0.8930;gnomAD_genome_AMR=0.8150;gnomAD_genome_ASJ=0.8167;gnomAD_genome_EAS=0.8912;gnomAD_genome_FIN=0.7990;gnomAD_genome_NFE=0.8212;gnomAD_genome_OTH=0.8203;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:110:0,51 1:142:0,70 1/1:159:0,159 1/1:171:0,171 1/1:85:0,85 1/1:150:0,150 1/1:105:0,105 1:134:0,72 1:171:0,78 . 1/1:165:0,165 1:168:0,66 1:155:0,76 1/1:140:0,140 1/1:218:0,218 1/1:160:0,160 1/1:157:0,157 1/1:148:0,148 1/1:114:0,112 1/1:140:0,140 1/1:146:0,146 1/1:187:0,187 1/1:208:0,208 1/1:192:0,192 1/1:172:0,172 1/1:128:0,128 1/1:150:0,150 1/1:193:0,193 1/1:198:0,198 1/1:160:0,160 1/1:168:0,168 1/1:94:0,94 1/1:147:0,147 1/1:122:0,121 1/1:179:0,179 1:127:0,61 1:131:0,74 1/1:138:0,138 1/1:105:0,105 1/1:181:0,181 1/1:163:0,163 1:120:0,64 11 128782002 137992;rs7118833 T C 190.97 . #_unique_end_positions=,36;#_unique_start_positions=,33;AC=73;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.8820;ALLELEID_clinvar_20171029_hg19=,141695;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.8026;AN=73;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.15;CAF_dbsnp_common_v150_hg19_refseq=,0.133|0.867;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN119492|SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN229602|Orphanet:ORPHA235936;CLNDN_clinvar_20171029_hg19=,Romano-Ward_syndrome|not_specified|Familial_hyperaldosteronism;CLNHGVS_clinvar_20171029_hg19=,NC_000011.9:g.128782002T>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:9388;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000890.3:c.834T>C;Coding_region_change_in_longest_transcript=,NM_000890.3:c.834T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.8760;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.8479;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,49;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,KCNJ5:3762;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:3762;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:3762;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:6266;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:6266;Homo_sapiens_refseq_GRCh37.p13_Genes=,KCNJ5;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_000890.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene24672;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna35750;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:600734;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:600734;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene24672;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,128782002;RS_dbsnp_common_v150_hg19_refseq=,7118833;Read_count=,52;Read_coverage=,110;Read_direction_test_probability=,0.8537951889067484;Read_position_test_probability=,0.9182924274557354;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_000890.3;Reverse_read_coverage=,61;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9029;SF=0,1,2,3,4,5,6,7,8,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.140154|0.859846;TPA_dbsnp_common_v150_hg19_refseq=,TPA;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05037800030517053e100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.99;db_xref=,GeneID:3762|HGNC:HGNC:6266|MIM:600734;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:09010;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_000890.3|HPRD:09010;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,potassium_voltage-gated_channel_subfamily_J_member_5;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,KCNJ5;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,KCNJ5;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CIR|GIRK4|KATP1|KIR3.4|LQT13;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,potassium_voltage-gated_channel_subfamily_J_member_5;transcript_id=,NM_000890.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KCNJ5;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCNJ5:NM_000890:exon2:c.T834C:p.H278H;cytoBand=11q24.3;genomicSuperDups=.;esp6500siv2_all=0.8440;esp6500siv2_ea=0.8216;esp6500siv2_all=0.8440;esp6500siv2_ea=0.8216;1000g2015aug_all=0.867013;avsnp147=rs7118833;Kaviar_AF=0.822868;Kaviar_AC=127217;Kaviar_AN=154602;ExAC_ALL=0.8416;ExAC_AFR=0.8925;ExAC_AMR=0.8054;ExAC_EAS=0.8790;ExAC_FIN=0.7895;ExAC_NFE=0.8276;ExAC_OTH=0.8227;ExAC_SAS=0.8941;CLNALLELEID=141695;CLNDN=Romano-Ward_syndrome|not_specified|Familial_hyperaldosteronism|Cardiovascular_phenotype;CLNDISDB=MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN229602,Orphanet:ORPHA235936|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0795;dpsi_zscore=0.416;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.8383;gnomAD_exome_AFR=0.8973;gnomAD_exome_AMR=0.8135;gnomAD_exome_ASJ=0.8464;gnomAD_exome_EAS=0.8799;gnomAD_exome_FIN=0.7930;gnomAD_exome_NFE=0.8248;gnomAD_exome_OTH=0.8361;gnomAD_exome_SAS=0.8911;gnomAD_genome_ALL=0.8435;gnomAD_genome_AFR=0.8970;gnomAD_genome_AMR=0.8182;gnomAD_genome_ASJ=0.8167;gnomAD_genome_EAS=0.8912;gnomAD_genome_FIN=0.7991;gnomAD_genome_NFE=0.8211;gnomAD_genome_OTH=0.8193;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:102:0,45 1:142:0,62 1/1:148:0,148 1/1:155:0,154 1/1:79:0,79 1/1:146:0,146 1/1:97:0,97 1:128:0,65 1:158:0,72 . 1/1:139:0,139 1:150:0,57 1:138:0,62 1/1:122:0,122 1/1:221:0,221 1/1:162:0,162 1/1:164:0,164 1/1:141:0,141 1/1:93:0,92 1/1:136:0,136 1/1:133:0,133 1/1:168:0,168 1/1:203:0,203 1/1:187:0,187 1/1:167:0,167 1/1:123:0,123 1/1:133:0,133 1/1:185:0,185 1/1:191:0,191 1/1:131:0,131 1/1:151:0,151 1/1:92:0,92 1/1:132:0,132 1/1:120:0,119 1/1:160:0,160 1:119:0,54 1:117:0,59 1/1:142:0,142 1/1:102:0,102 1/1:169:0,169 1/1:159:0,159 1:120:0,59 11 128782012 137993;rs7102584 C G 191.05 . #_unique_end_positions=,60;#_unique_start_positions=,57;AC=81;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9977;ALLELEID_clinvar_20171029_hg19=,141696;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9942;AN=81;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_000881.3:p.Gln282Glu;Amino_acid_change_in_longest_transcript=,NP_000881.3:p.Gln282Glu;BaseQRankSum=,0.14;CAF_dbsnp_common_v150_hg19_refseq=,0.004992|.|0.995;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN119492|SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN229602|Orphanet:ORPHA235936;CLNDN_clinvar_20171029_hg19=,Romano-Ward_syndrome|not_specified|Familial_hyperaldosteronism;CLNHGVS_clinvar_20171029_hg19=,NC_000011.9:g.128782012C>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:9397|UniProtKB_(protein):P48544#VAR_063107;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000890.3:c.844C>G;Coding_region_change_in_longest_transcript=,NM_000890.3:c.844C>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,1.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9841;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,46;GENEINFO_dbsnp_common_v150_hg19_refseq=,KCNJ5:3762;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:3762;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:3762;Genotype=,G/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:6266;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:6266;Homo_sapiens_refseq_GRCh37.p13_Genes=,KCNJ5;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_000890.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene24672;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna35750;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:600734;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:600734;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene24672;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,128782012;RS_dbsnp_common_v150_hg19_refseq=,7102584;Read_count=,109;Read_coverage=,109;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_000890.3;Reverse_read_coverage=,63;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9980;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.00700598|.|0.992994;TPA_dbsnp_common_v150_hg19_refseq=,TPA;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050378000a0504053f100100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,1;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,1;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,1;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,1;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.892;db_xref=,GeneID:3762|HGNC:HGNC:6266|MIM:600734;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:09010;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_000890.3|HPRD:09010;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,potassium_voltage-gated_channel_subfamily_J_member_5;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,KCNJ5;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,KCNJ5;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CIR|GIRK4|KATP1|KIR3.4|LQT13;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,potassium_voltage-gated_channel_subfamily_J_member_5;transcript_id=,NM_000890.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KCNJ5;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=KCNJ5:NM_000890:exon2:c.C844G:p.Q282E;cytoBand=11q24.3;genomicSuperDups=.;esp6500siv2_all=0.9871;esp6500siv2_ea=0.9820;esp6500siv2_all=0.9871;esp6500siv2_ea=0.9820;1000g2015aug_all=0.995008;avsnp147=rs7102584;Kaviar_AF=0.967031;Kaviar_AC=149505;Kaviar_AN=154602;ExAC_ALL=0.9865;ExAC_AFR=0.9976;ExAC_AMR=0.9975;ExAC_EAS=1;ExAC_FIN=0.9761;ExAC_NFE=0.9791;ExAC_OTH=0.9912;ExAC_SAS=0.9986;CLNALLELEID=141696;CLNDN=Romano-Ward_syndrome|not_specified|Familial_hyperaldosteronism|Cardiovascular_phenotype;CLNDISDB=MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN229602,Orphanet:ORPHA235936|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=0.997;MutationTaster_pred=P;MutationAssessor_score=-1.825;MutationAssessor_pred=N;FATHMM_score=-2.58;FATHMM_pred=D;PROVEAN_score=1.15;PROVEAN_pred=N;VEST3_score=0.022;CADD_raw=0.157;CADD_phred=4.219;DANN_score=0.396;fathmm-MKL_coding_score=0.294;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.907;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.497;integrated_confidence_value=0;GERP++_RS=5.46;phyloP7way_vertebrate=0.028;phyloP20way_mammalian=0.136;phastCons7way_vertebrate=0.994;phastCons20way_mammalian=0.990;SiPhy_29way_logOdds=16.452;GDI_full_10282015=.;dpsi_max_tissue=0.1213;dpsi_zscore=0.545;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM141559#"Altered_channel_function";gnomAD_exome_ALL=0.9877;gnomAD_exome_AFR=0.9976;gnomAD_exome_AMR=0.9972;gnomAD_exome_ASJ=0.9978;gnomAD_exome_EAS=0.9999;gnomAD_exome_FIN=0.9792;gnomAD_exome_NFE=0.9792;gnomAD_exome_OTH=0.9880;gnomAD_exome_SAS=0.9983;gnomAD_genome_ALL=0.9849;gnomAD_genome_AFR=0.9984;gnomAD_genome_AMR=0.9940;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=1;gnomAD_genome_FIN=0.9728;gnomAD_genome_NFE=0.9776;gnomAD_genome_OTH=0.9805;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1/1:98:0,98 1/1:133:0,133 1/1:129:0,129 1/1:148:0,148 1/1:70:0,70 1/1:127:0,127 1/1:91:0,91 1/1:119:0,119 1:152:0,74 1/1:116:0,116 1/1:129:0,128 1:132:0,54 1/1:137:0,137 1/1:116:0,116 1/1:213:0,213 1/1:151:0,151 1/1:151:0,151 1/1:135:0,135 1/1:88:0,88 1/1:136:0,136 1/1:133:0,133 1/1:152:0,152 1/1:191:0,191 1/1:178:0,178 1/1:155:0,155 1/1:119:0,119 1/1:125:0,125 1/1:169:0,169 1/1:181:0,181 1/1:121:0,121 1/1:142:0,142 1/1:90:0,90 1/1:116:0,116 1/1:114:0,114 1/1:155:0,155 1/1:115:0,115 1/1:114:0,114 1/1:132:0,132 1/1:95:0,95 1/1:157:0,157 1/1:153:0,153 1:118:0,57 12 2224422 . G A 200.00 . #_unique_end_positions=,30;#_unique_start_positions=,28;AC=1;AN=1;Amino_acid_change=,NP_001123310.1:p.Ala28Thr|_NP_001123312.1:p.Ala28Thr|_NP_001123316.1:p.Ala28Thr|_NP_001123299.1:p.Ala28Thr|_NP_001123304.1:p.Ala28Thr|_NP_001123303.1:p.Ala28Thr|_NP_001123306.1:p.Ala28Thr|_NP_001161096.2:p.Ala28Thr|_NP_001123318.1:p.Ala28Thr|_NP_001161095.1:p.Ala28Thr|_NP_001123305.1:p.Ala28Thr|_NP_001123307.1:p.Ala28Thr|_NP_001123308.1:p.Ala28Thr|_NP_001123302.2:p.Ala28Thr|_NP_000710.5:p.Ala28Thr|_NP_001161097.1:p.Ala28Thr|_NP_001123314.1:p.Ala28Thr|_NP_001123311.1:p.Ala28Thr|_NP_001123313.1:p.Ala28Thr|_NP_001123301.1:p.Ala28Thr|_NP_001123309.1:p.Ala28Thr|_NP_955630.3:p.Ala28Thr|_NP_001123315.1:p.Ala28Thr;Amino_acid_change_in_longest_transcript=,NP_955630.3:p.Ala28Thr;BaseQRankSum=,0.25;Coding_region_change=,NM_000719.6:c.82G>A|_NM_001129827.1:c.82G>A|_NM_001129829.1:c.82G>A|_NM_001129830.2:c.82G>A|_NM_001129831.1:c.82G>A|_NM_001129832.1:c.82G>A|_NM_001129833.1:c.82G>A|_NM_001129834.1:c.82G>A|_NM_001129835.1:c.82G>A|_NM_001129836.1:c.82G>A|_NM_001129837.1:c.82G>A|_NM_001129838.1:c.82G>A|_NM_001129839.1:c.82G>A|_NM_001129840.1:c.82G>A|_NM_001129841.1:c.82G>A|_NM_001129842.1:c.82G>A|_NM_001129843.1:c.82G>A|_NM_001129844.1:c.82G>A|_NM_001129846.1:c.82G>A|_NM_001167623.1:c.82G>A|_NM_001167624.2:c.82G>A|_NM_001167625.1:c.82G>A|_NM_199460.3:c.82G>A;Coding_region_change_in_longest_transcript=,NM_199460.3:c.82G>A;Forward_read_coverage=,90;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:775;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:775;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:1390;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:1390;Homo_sapiens_refseq_GRCh37.p13_Genes=,CACNA1C;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001129839.1|NM_001129837.1|NM_001129838.1|NM_001129846.1|NM_001167623.1|NM_001167625.1|NM_001129840.1|NM_001129833.1|NM_001129842.1|NM_001129829.1|NM_001129834.1|NM_000719.6|NM_001129836.1|NM_001129841.1|NM_001129835.1|NM_001129843.1|NM_001129844.1|NM_001129832.1|NM_001129831.1|NM_001129827.1|NM_001167624.2|NM_001129830.2|NM_199460.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene24765;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna35915|rna35914|rna35920|rna35921|rna35903|rna35904|rna35905|rna35909|rna35910|rna35911|rna35912|rna35913|rna35916|rna35917|rna35918|rna35919|rna35922|rna35907|rna35908|rna35906|rna35923|rna35925|rna35924;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:114205;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:114205;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene24765;QUAL=,200.0;Read_count=,44;Read_coverage=,116;Read_direction_test_probability=,0.9989271181575037;Read_position_test_probability=,0.8921668631615955;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001129839.1|NM_001129837.1|NM_001129838.1|NM_001129846.1|NM_001167623.1|NM_001167625.1|NM_001129840.1|NM_001129833.1|NM_001129842.1|NM_001129829.1|NM_001129834.1|NM_000719.6|NM_001129836.1|NM_001129841.1|NM_001129835.1|NM_001129843.1|NM_001129844.1|NM_001129832.1|NM_001129831.1|NM_001129827.1|NM_001167624.2|NM_001129830.2|NM_199460.3;Reverse_read_coverage=,26;SF=17;conservation_score=,1.0;db_xref=,GeneID:775|HGNC:HGNC:1390|MIM:114205;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001129839.1|Genbank:NM_001129837.1|Genbank:NM_001129838.1|Genbank:NM_001129846.1|Genbank:NM_001167623.1|Genbank:NM_001167625.1|Genbank:NM_001129840.1|Genbank:NM_001129833.1|Genbank:NM_001129842.1|Genbank:NM_001129829.1|Genbank:NM_001129834.1|Genbank:NM_000719.6|Genbank:NM_001129836.1|Genbank:NM_001129841.1|Genbank:NM_001129835.1|Genbank:NM_001129843.1|Genbank:NM_001129844.1|Genbank:NM_001129832.1|Genbank:NM_001129831.1|Genbank:NM_001129827.1|Genbank:NM_001167624.2|Genbank:NM_001129830.2|Genbank:NM_199460.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,calcium_voltage-gated_channel_subunit_alpha1_C;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CACNA1C;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,CACNA1C;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CACH2|CACN2|CACNL1A1|CaV1.2|CCHL1A1|LQT8|TS;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_13|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_11|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_12|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_20|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_21|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_23|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_14|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_7|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_16|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_3|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_8|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_18|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_10|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_15|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_9|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_17|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_19|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_6|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_5|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_2|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_22|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_4|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_1;transcript_id=,NM_001129839.1|NM_001129837.1|NM_001129838.1|NM_001129846.1|NM_001167623.1|NM_001167625.1|NM_001129840.1|NM_001129833.1|NM_001129842.1|NM_001129829.1|NM_001129834.1|NM_000719.6|NM_001129836.1|NM_001129841.1|NM_001129835.1|NM_001129843.1|NM_001129844.1|NM_001129832.1|NM_001129831.1|NM_001129827.1|NM_001167624.2|NM_001129830.2|NM_199460.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CACNA1C:NM_000719:exon2:c.G82A:p.A28T,CACNA1C:NM_001129827:exon2:c.G82A:p.A28T,CACNA1C:NM_001129829:exon2:c.G82A:p.A28T,CACNA1C:NM_001129830:exon2:c.G82A:p.A28T,CACNA1C:NM_001129831:exon2:c.G82A:p.A28T,CACNA1C:NM_001129832:exon2:c.G82A:p.A28T,CACNA1C:NM_001129833:exon2:c.G82A:p.A28T,CACNA1C:NM_001129834:exon2:c.G82A:p.A28T,CACNA1C:NM_001129835:exon2:c.G82A:p.A28T,CACNA1C:NM_001129836:exon2:c.G82A:p.A28T,CACNA1C:NM_001129837:exon2:c.G82A:p.A28T,CACNA1C:NM_001129838:exon2:c.G82A:p.A28T,CACNA1C:NM_001129839:exon2:c.G82A:p.A28T,CACNA1C:NM_001129840:exon2:c.G82A:p.A28T,CACNA1C:NM_001129841:exon2:c.G82A:p.A28T,CACNA1C:NM_001129842:exon2:c.G82A:p.A28T,CACNA1C:NM_001129843:exon2:c.G82A:p.A28T,CACNA1C:NM_001129844:exon2:c.G82A:p.A28T,CACNA1C:NM_001129846:exon2:c.G82A:p.A28T,CACNA1C:NM_001167623:exon2:c.G82A:p.A28T,CACNA1C:NM_001167624:exon2:c.G82A:p.A28T,CACNA1C:NM_001167625:exon2:c.G82A:p.A28T,CACNA1C:NM_199460:exon2:c.G82A:p.A28T;cytoBand=12p13.33;genomicSuperDups=.;esp6500siv2_all=8.4e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=8.4e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=.;avsnp147=rs373687005;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;ExAC_ALL=5.082e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=9.206e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.017;SIFT_pred=D;Polyphen2_HDIV_score=0.933;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.542;Polyphen2_HVAR_pred=P;LRT_score=0.045;LRT_pred=N;MutationTaster_score=0.584;MutationTaster_pred=N;MutationAssessor_score=0.345;MutationAssessor_pred=N;FATHMM_score=-3.72;FATHMM_pred=D;PROVEAN_score=-1.35;PROVEAN_pred=N;VEST3_score=0.386;CADD_raw=3.174;CADD_phred=22.7;DANN_score=0.998;fathmm-MKL_coding_score=0.950;fathmm-MKL_coding_pred=D;MetaSVM_score=0.692;MetaSVM_pred=D;MetaLR_score=0.774;MetaLR_pred=D;integrated_fitCons_score=0.581;integrated_confidence_value=0;GERP++_RS=5.77;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=19.979;GDI_full_10282015=.;dpsi_max_tissue=1.2242;dpsi_zscore=1.648;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM152258#"Long_QT_non-syndromic";gnomAD_exome_ALL=2.778e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=6.369e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=4.207e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=3.229e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.667e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=7 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . 1:113:0,43 . . . . . . . . . . . . . . . . . . . . . . . . 12 2224511 35767;rs34419050 C T 200.00 . #_unique_end_positions=,40;#_unique_start_positions=,39;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0;AF_ESP_clinvar_20171029_hg19=,0.0172;AF_EXAC_clinvar_20171029_hg19=,0.03236;AF_TGP_clinvar_20171029_hg19=,0.0118;ALLELEID_clinvar_20171029_hg19=,44431;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0072;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.1;CAF_dbsnp_common_v150_hg19_refseq=,0.9882|0.01178;CLNDISDB_clinvar_20171029_hg19=,MeSH:D008133|MedGen:C0023976|SNOMED_CT:9651007|MedGen:C0003811|OMIM:115000|MedGen:C1142166|Orphanet:ORPHA130|SNOMED_CT:418818005|MedGen:C1832916|OMIM:601005|Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736;CLNDN_clinvar_20171029_hg19=,Long_QT_syndrome|Cardiac_arrhythmia|Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype;CLNHGVS_clinvar_20171029_hg19=,NC_000012.11:g.2224511C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:61115;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000719.6:c.171C>T|_NM_001129827.1:c.171C>T|_NM_001129829.1:c.171C>T|_NM_001129830.2:c.171C>T|_NM_001129831.1:c.171C>T|_NM_001129832.1:c.171C>T|_NM_001129833.1:c.171C>T|_NM_001129834.1:c.171C>T|_NM_001129835.1:c.171C>T|_NM_001129836.1:c.171C>T|_NM_001129837.1:c.171C>T|_NM_001129838.1:c.171C>T|_NM_001129839.1:c.171C>T|_NM_001129840.1:c.171C>T|_NM_001129841.1:c.171C>T|_NM_001129842.1:c.171C>T|_NM_001129843.1:c.171C>T|_NM_001129844.1:c.171C>T|_NM_001129846.1:c.171C>T|_NM_001167623.1:c.171C>T|_NM_001167624.2:c.171C>T|_NM_001167625.1:c.171C>T|_NM_199460.3:c.171C>T;Coding_region_change_in_longest_transcript=,NM_199460.3:c.171C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.001;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0229;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,128;GENEINFO_dbsnp_common_v150_hg19_refseq=,CACNA1C:775;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:775;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:775;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:1390;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:1390;Homo_sapiens_refseq_GRCh37.p13_Genes=,CACNA1C;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001129839.1|NM_001129837.1|NM_001129838.1|NM_001129846.1|NM_001167623.1|NM_001167625.1|NM_001129840.1|NM_001129833.1|NM_001129842.1|NM_001129829.1|NM_001129834.1|NM_000719.6|NM_001129836.1|NM_001129841.1|NM_001129835.1|NM_001129843.1|NM_001129844.1|NM_001129832.1|NM_001129831.1|NM_001129827.1|NM_001167624.2|NM_001129830.2|NM_199460.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene24765;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna35915|rna35914|rna35920|rna35921|rna35903|rna35904|rna35905|rna35909|rna35910|rna35911|rna35912|rna35913|rna35916|rna35917|rna35918|rna35919|rna35922|rna35907|rna35908|rna35906|rna35923|rna35925|rna35924;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:114205;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:114205;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene24765;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,2224511;RS_dbsnp_common_v150_hg19_refseq=,34419050;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,68;Read_coverage=,218;Read_direction_test_probability=,0.4467611365123699;Read_position_test_probability=,0.2759605046010447;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001129839.1|NM_001129837.1|NM_001129838.1|NM_001129846.1|NM_001167623.1|NM_001167625.1|NM_001129840.1|NM_001129833.1|NM_001129842.1|NM_001129829.1|NM_001129834.1|NM_000719.6|NM_001129836.1|NM_001129841.1|NM_001129835.1|NM_001129843.1|NM_001129844.1|NM_001129832.1|NM_001129831.1|NM_001129827.1|NM_001167624.2|NM_001129830.2|NM_199460.3;Reverse_read_coverage=,90;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0307;SF=27;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.987637|0.0123635;TPA_dbsnp_common_v150_hg19_refseq=,TPA;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050178000305140536100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.966;db_xref=,GeneID:775|HGNC:HGNC:1390|MIM:114205;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001129839.1|Genbank:NM_001129837.1|Genbank:NM_001129838.1|Genbank:NM_001129846.1|Genbank:NM_001167623.1|Genbank:NM_001167625.1|Genbank:NM_001129840.1|Genbank:NM_001129833.1|Genbank:NM_001129842.1|Genbank:NM_001129829.1|Genbank:NM_001129834.1|Genbank:NM_000719.6|Genbank:NM_001129836.1|Genbank:NM_001129841.1|Genbank:NM_001129835.1|Genbank:NM_001129843.1|Genbank:NM_001129844.1|Genbank:NM_001129832.1|Genbank:NM_001129831.1|Genbank:NM_001129827.1|Genbank:NM_001167624.2|Genbank:NM_001129830.2|Genbank:NM_199460.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,calcium_voltage-gated_channel_subunit_alpha1_C;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CACNA1C;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,CACNA1C;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CACH2|CACN2|CACNL1A1|CaV1.2|CCHL1A1|LQT8|TS;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_13|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_11|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_12|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_20|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_21|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_23|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_14|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_7|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_16|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_3|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_8|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_18|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_10|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_15|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_9|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_17|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_19|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_6|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_5|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_2|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_22|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_4|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_1;transcript_id=,NM_001129839.1|NM_001129837.1|NM_001129838.1|NM_001129846.1|NM_001167623.1|NM_001167625.1|NM_001129840.1|NM_001129833.1|NM_001129842.1|NM_001129829.1|NM_001129834.1|NM_000719.6|NM_001129836.1|NM_001129841.1|NM_001129835.1|NM_001129843.1|NM_001129844.1|NM_001129832.1|NM_001129831.1|NM_001129827.1|NM_001167624.2|NM_001129830.2|NM_199460.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CACNA1C:NM_000719:exon2:c.C171T:p.D57D,CACNA1C:NM_001129827:exon2:c.C171T:p.D57D,CACNA1C:NM_001129829:exon2:c.C171T:p.D57D,CACNA1C:NM_001129830:exon2:c.C171T:p.D57D,CACNA1C:NM_001129831:exon2:c.C171T:p.D57D,CACNA1C:NM_001129832:exon2:c.C171T:p.D57D,CACNA1C:NM_001129833:exon2:c.C171T:p.D57D,CACNA1C:NM_001129834:exon2:c.C171T:p.D57D,CACNA1C:NM_001129835:exon2:c.C171T:p.D57D,CACNA1C:NM_001129836:exon2:c.C171T:p.D57D,CACNA1C:NM_001129837:exon2:c.C171T:p.D57D,CACNA1C:NM_001129838:exon2:c.C171T:p.D57D,CACNA1C:NM_001129839:exon2:c.C171T:p.D57D,CACNA1C:NM_001129840:exon2:c.C171T:p.D57D,CACNA1C:NM_001129841:exon2:c.C171T:p.D57D,CACNA1C:NM_001129842:exon2:c.C171T:p.D57D,CACNA1C:NM_001129843:exon2:c.C171T:p.D57D,CACNA1C:NM_001129844:exon2:c.C171T:p.D57D,CACNA1C:NM_001129846:exon2:c.C171T:p.D57D,CACNA1C:NM_001167623:exon2:c.C171T:p.D57D,CACNA1C:NM_001167624:exon2:c.C171T:p.D57D,CACNA1C:NM_001167625:exon2:c.C171T:p.D57D,CACNA1C:NM_199460:exon2:c.C171T:p.D57D;cytoBand=12p13.33;genomicSuperDups=.;esp6500siv2_all=0.0172;esp6500siv2_ea=0.0235;esp6500siv2_all=0.0172;esp6500siv2_ea=0.0235;1000g2015aug_all=0.0117812;avsnp147=rs34419050;Kaviar_AF=0.0177165;Kaviar_AC=2739;Kaviar_AN=154602;ExAC_ALL=0.0324;ExAC_AFR=0.0050;ExAC_AMR=0.0148;ExAC_EAS=0;ExAC_FIN=0.0156;ExAC_NFE=0.0383;ExAC_OTH=0.0258;ExAC_SAS=0.0433;CLNALLELEID=44431;CLNDN=Long_QT_syndrome|Cardiac_arrhythmia|Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0003811,OMIM:115000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.9557;dpsi_zscore=-1.445;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0206;gnomAD_exome_AFR=0.0032;gnomAD_exome_AMR=0.0089;gnomAD_exome_ASJ=0.0194;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0.0116;gnomAD_exome_NFE=0.0265;gnomAD_exome_OTH=0.0178;gnomAD_exome_SAS=0.0372;gnomAD_genome_ALL=0.0138;gnomAD_genome_AFR=0.0042;gnomAD_genome_AMR=0.0084;gnomAD_genome_ASJ=0.0167;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0103;gnomAD_genome_NFE=0.0218;gnomAD_genome_OTH=0.0153;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:197:0,63 . . . . . . . . . . . . . . 12 2558186 93412;rs1544514 G A 55.58 . #_unique_end_positions=,6;#_unique_start_positions=,6;AC=14;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0756;AF_ESP_clinvar_20171029_hg19=,0.1757;AF_EXAC_clinvar_20171029_hg19=,0.20737;AF_TGP_clinvar_20171029_hg19=,0.1204;ALLELEID_clinvar_20171029_hg19=,99319;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.147;AN=14;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.8796|0.1204;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1142166|Orphanet:ORPHA130|SNOMED_CT:418818005|MedGen:C1832916|OMIM:601005|Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736;CLNDN_clinvar_20171029_hg19=,Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype;CLNHGVS_clinvar_20171029_hg19=,NC_000012.11:g.2558186G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:49550;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000719.6:c.522G>A|_NM_001129827.1:c.522G>A|_NM_001129829.1:c.522G>A|_NM_001129830.2:c.522G>A|_NM_001129831.1:c.522G>A|_NM_001129832.1:c.522G>A|_NM_001129833.1:c.522G>A|_NM_001129834.1:c.522G>A|_NM_001129835.1:c.522G>A|_NM_001129836.1:c.522G>A|_NM_001129837.1:c.522G>A|_NM_001129838.1:c.522G>A|_NM_001129839.1:c.522G>A|_NM_001129840.1:c.522G>A|_NM_001129841.1:c.522G>A|_NM_001129842.1:c.522G>A|_NM_001129843.1:c.522G>A|_NM_001129844.1:c.522G>A|_NM_001129846.1:c.522G>A|_NM_001167623.1:c.522G>A|_NM_001167624.2:c.522G>A|_NM_001167625.1:c.522G>A|_NM_199460.3:c.522G>A;Coding_region_change_in_longest_transcript=,NM_199460.3:c.522G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0655;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1928;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,18;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,CACNA1C:775;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:775;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:775;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:1390;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:1390;Homo_sapiens_refseq_GRCh37.p13_Genes=,CACNA1C;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001129839.1|NM_001129837.1|NM_001129838.1|NM_001129846.1|NM_001167623.1|NM_001167625.1|NM_001129840.1|NM_001129833.1|NM_001129842.1|NM_001129829.1|NM_001129834.1|NM_000719.6|NM_001129836.1|NM_001129841.1|NM_001129835.1|NM_001129843.1|NM_001129844.1|NM_001129832.1|NM_001129831.1|NM_001129827.1|NM_001167624.2|NM_001129830.2|NM_199460.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene24765;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna35915|rna35914|rna35920|rna35921|rna35903|rna35904|rna35905|rna35909|rna35910|rna35911|rna35912|rna35913|rna35916|rna35917|rna35918|rna35919|rna35922|rna35907|rna35908|rna35906|rna35923|rna35925|rna35924;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:114205;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:114205;MTP_dbsnp_common_v150_hg19_refseq=,MTP;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene24765;QUAL=,24.172785539167386;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,2558186;RS_dbsnp_common_v150_hg19_refseq=,1544514;Read_count=,7;Read_coverage=,34;Read_direction_test_probability=,0.632408881824255;Read_position_test_probability=,0.7134850839434843;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001129839.1|NM_001129837.1|NM_001129838.1|NM_001129846.1|NM_001167623.1|NM_001167625.1|NM_001129840.1|NM_001129833.1|NM_001129842.1|NM_001129829.1|NM_001129834.1|NM_000719.6|NM_001129836.1|NM_001129841.1|NM_001129835.1|NM_001129843.1|NM_001129844.1|NM_001129832.1|NM_001129831.1|NM_001129827.1|NM_001167624.2|NM_001129830.2|NM_199460.3;Reverse_read_coverage=,16;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1442;SF=0,1,3,6,12,21,23,25,26,32,34,38,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.837729|0.162271;TPA_dbsnp_common_v150_hg19_refseq=,TPA;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05013800030517053f020100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.122449;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.159292;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.0853659;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.0764706;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.142045;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0930233;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0988372;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.0722222;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.11;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.13986;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.238636;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0840708;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.996;db_xref=,GeneID:775|HGNC:HGNC:1390|MIM:114205;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001129839.1|Genbank:NM_001129837.1|Genbank:NM_001129838.1|Genbank:NM_001129846.1|Genbank:NM_001167623.1|Genbank:NM_001167625.1|Genbank:NM_001129840.1|Genbank:NM_001129833.1|Genbank:NM_001129842.1|Genbank:NM_001129829.1|Genbank:NM_001129834.1|Genbank:NM_000719.6|Genbank:NM_001129836.1|Genbank:NM_001129841.1|Genbank:NM_001129835.1|Genbank:NM_001129843.1|Genbank:NM_001129844.1|Genbank:NM_001129832.1|Genbank:NM_001129831.1|Genbank:NM_001129827.1|Genbank:NM_001167624.2|Genbank:NM_001129830.2|Genbank:NM_199460.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,calcium_voltage-gated_channel_subunit_alpha1_C;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CACNA1C;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,CACNA1C;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CACH2|CACN2|CACNL1A1|CaV1.2|CCHL1A1|LQT8|TS;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_13|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_11|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_12|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_20|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_21|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_23|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_14|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_7|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_16|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_3|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_8|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_18|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_10|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_15|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_9|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_17|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_19|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_6|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_5|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_2|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_22|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_4|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_1;transcript_id=,NM_001129839.1|NM_001129837.1|NM_001129838.1|NM_001129846.1|NM_001167623.1|NM_001167625.1|NM_001129840.1|NM_001129833.1|NM_001129842.1|NM_001129829.1|NM_001129834.1|NM_000719.6|NM_001129836.1|NM_001129841.1|NM_001129835.1|NM_001129843.1|NM_001129844.1|NM_001129832.1|NM_001129831.1|NM_001129827.1|NM_001167624.2|NM_001129830.2|NM_199460.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CACNA1C:NM_000719:exon4:c.G522A:p.A174A,CACNA1C:NM_001129827:exon4:c.G522A:p.A174A,CACNA1C:NM_001129829:exon4:c.G522A:p.A174A,CACNA1C:NM_001129830:exon4:c.G522A:p.A174A,CACNA1C:NM_001129831:exon4:c.G522A:p.A174A,CACNA1C:NM_001129832:exon4:c.G522A:p.A174A,CACNA1C:NM_001129833:exon4:c.G522A:p.A174A,CACNA1C:NM_001129834:exon4:c.G522A:p.A174A,CACNA1C:NM_001129835:exon4:c.G522A:p.A174A,CACNA1C:NM_001129836:exon4:c.G522A:p.A174A,CACNA1C:NM_001129837:exon4:c.G522A:p.A174A,CACNA1C:NM_001129838:exon4:c.G522A:p.A174A,CACNA1C:NM_001129839:exon4:c.G522A:p.A174A,CACNA1C:NM_001129840:exon4:c.G522A:p.A174A,CACNA1C:NM_001129841:exon4:c.G522A:p.A174A,CACNA1C:NM_001129842:exon4:c.G522A:p.A174A,CACNA1C:NM_001129843:exon4:c.G522A:p.A174A,CACNA1C:NM_001129844:exon4:c.G522A:p.A174A,CACNA1C:NM_001129846:exon4:c.G522A:p.A174A,CACNA1C:NM_001167623:exon4:c.G522A:p.A174A,CACNA1C:NM_001167624:exon4:c.G522A:p.A174A,CACNA1C:NM_001167625:exon4:c.G522A:p.A174A,CACNA1C:NM_199460:exon4:c.G522A:p.A174A;cytoBand=12p13.33;genomicSuperDups=.;esp6500siv2_all=0.1757;esp6500siv2_ea=0.2146;esp6500siv2_all=0.1757;esp6500siv2_ea=0.2146;1000g2015aug_all=0.120407;avsnp147=rs1544514;Kaviar_AF=0.171744;Kaviar_AC=26552;Kaviar_AN=154602;ExAC_ALL=0.2074;ExAC_AFR=0.1088;ExAC_AMR=0.2049;ExAC_EAS=0.0810;ExAC_FIN=0.1936;ExAC_NFE=0.2489;ExAC_OTH=0.2493;ExAC_SAS=0.1691;CLNALLELEID=99319;CLNDN=Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0104;dpsi_zscore=-0.040;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1762;gnomAD_exome_AFR=0.0942;gnomAD_exome_AMR=0.1568;gnomAD_exome_ASJ=0.2881;gnomAD_exome_EAS=0.0639;gnomAD_exome_FIN=0.1653;gnomAD_exome_NFE=0.2094;gnomAD_exome_OTH=0.2084;gnomAD_exome_SAS=0.1476;gnomAD_genome_ALL=0.1668;gnomAD_genome_AFR=0.1002;gnomAD_genome_AMR=0.1854;gnomAD_genome_ASJ=0.3245;gnomAD_genome_EAS=0.0531;gnomAD_genome_FIN=0.1691;gnomAD_genome_NFE=0.2123;gnomAD_genome_OTH=0.1792;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:28:0,7 1:14:0,6 . 1:22:0,11 . . 1:10:0,7 . . . . . 1:16:0,6 . . . . . . . . 1:24:0,12 . 1:15:0,8 . 1:14:0,8 1:18:0,7 . . . . . 1:22:0,10 . 1/1:18:0,18 . . . 1:18:0,11 . . 1:12:0,3 12 2694638 93398;rs215976 C T 200.00 . #_unique_end_positions=,37;#_unique_start_positions=,37;AC=10;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0877;AF_ESP_clinvar_20171029_hg19=,0.0791;AF_EXAC_clinvar_20171029_hg19=,0.16213;AF_TGP_clinvar_20171029_hg19=,0.1456;ALLELEID_clinvar_20171029_hg19=,99305;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0576;AN=10;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.02;CAF_dbsnp_common_v150_hg19_refseq=,0.8544|.|0.1456;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1142166|Orphanet:ORPHA130|SNOMED_CT:418818005|MedGen:C1832916|OMIM:601005|Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736;CLNDN_clinvar_20171029_hg19=,Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype;CLNHGVS_clinvar_20171029_hg19=,NC_000012.11:g.2694638C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:49574;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000719.6:c.2436C>T|_NM_001129827.1:c.2436C>T|_NM_001129829.1:c.2436C>T|_NM_001129830.2:c.2436C>T|_NM_001129831.1:c.2436C>T|_NM_001129832.1:c.2436C>T|_NM_001129833.1:c.2436C>T|_NM_001129834.1:c.2436C>T|_NM_001129835.1:c.2436C>T|_NM_001129836.1:c.2436C>T|_NM_001129837.1:c.2436C>T|_NM_001129838.1:c.2436C>T|_NM_001129839.1:c.2436C>T|_NM_001129840.1:c.2436C>T|_NM_001129841.1:c.2436C>T|_NM_001129842.1:c.2436C>T|_NM_001129843.1:c.2436C>T|_NM_001129844.1:c.2427C>T|_NM_001129846.1:c.2436C>T|_NM_001167623.1:c.2436C>T|_NM_001167624.2:c.2436C>T|_NM_001167625.1:c.2436C>T|_NM_199460.3:c.2436C>T;Coding_region_change_in_longest_transcript=,NM_199460.3:c.2436C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2966;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0885;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,27;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,CACNA1C:775;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:775;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:775;Genotype=,T/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:1390;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:1390;Homo_sapiens_refseq_GRCh37.p13_Genes=,CACNA1C;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001129839.1|NM_001129837.1|NM_001129838.1|NM_001129846.1|NM_001167623.1|NM_001167625.1|NM_001129840.1|NM_001129833.1|NM_001129842.1|NM_001129829.1|NM_001129834.1|NM_000719.6|NM_001129836.1|NM_001129841.1|NM_001129835.1|NM_001129843.1|NM_001129844.1|NM_001129832.1|NM_001129831.1|NM_001129827.1|NM_001167624.2|NM_001129830.2|NM_199460.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene24765;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna35915|rna35914|rna35920|rna35921|rna35903|rna35904|rna35905|rna35909|rna35910|rna35911|rna35912|rna35913|rna35916|rna35917|rna35918|rna35919|rna35922|rna35907|rna35908|rna35906|rna35923|rna35925|rna35924;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:114205;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:114205;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene24765;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,2694638;RS_dbsnp_common_v150_hg19_refseq=,215976;Read_count=,73;Read_coverage=,73;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001129839.1|NM_001129837.1|NM_001129838.1|NM_001129846.1|NM_001167623.1|NM_001167625.1|NM_001129840.1|NM_001129833.1|NM_001129842.1|NM_001129829.1|NM_001129834.1|NM_000719.6|NM_001129836.1|NM_001129841.1|NM_001129835.1|NM_001129843.1|NM_001129844.1|NM_001129832.1|NM_001129831.1|NM_001129827.1|NM_001167624.2|NM_001129830.2|NM_199460.3;Reverse_read_coverage=,46;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1892;SF=0,14,16,23,26,27,37,38;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.9161|.|0.0839;TPA_dbsnp_common_v150_hg19_refseq=,TPA;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050138000b0515053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.0918367;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0884956;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.378049;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.294118;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.176136;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.290698;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.343023;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.144444;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.03;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.199301;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.125;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0663717;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.853;db_xref=,GeneID:775|HGNC:HGNC:1390|MIM:114205;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001129839.1|Genbank:NM_001129837.1|Genbank:NM_001129838.1|Genbank:NM_001129846.1|Genbank:NM_001167623.1|Genbank:NM_001167625.1|Genbank:NM_001129840.1|Genbank:NM_001129833.1|Genbank:NM_001129842.1|Genbank:NM_001129829.1|Genbank:NM_001129834.1|Genbank:NM_000719.6|Genbank:NM_001129836.1|Genbank:NM_001129841.1|Genbank:NM_001129835.1|Genbank:NM_001129843.1|Genbank:NM_001129844.1|Genbank:NM_001129832.1|Genbank:NM_001129831.1|Genbank:NM_001129827.1|Genbank:NM_001167624.2|Genbank:NM_001129830.2|Genbank:NM_199460.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,calcium_voltage-gated_channel_subunit_alpha1_C;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CACNA1C;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,CACNA1C;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CACH2|CACN2|CACNL1A1|CaV1.2|CCHL1A1|LQT8|TS;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_13|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_11|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_12|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_20|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_21|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_23|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_14|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_7|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_16|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_3|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_8|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_18|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_10|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_15|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_9|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_17|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_19|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_6|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_5|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_2|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_22|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_4|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_1;transcript_id=,NM_001129839.1|NM_001129837.1|NM_001129838.1|NM_001129846.1|NM_001167623.1|NM_001167625.1|NM_001129840.1|NM_001129833.1|NM_001129842.1|NM_001129829.1|NM_001129834.1|NM_000719.6|NM_001129836.1|NM_001129841.1|NM_001129835.1|NM_001129843.1|NM_001129844.1|NM_001129832.1|NM_001129831.1|NM_001129827.1|NM_001167624.2|NM_001129830.2|NM_199460.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CACNA1C:NM_000719:exon17:c.C2436T:p.D812D,CACNA1C:NM_001129827:exon17:c.C2436T:p.D812D,CACNA1C:NM_001129829:exon17:c.C2436T:p.D812D,CACNA1C:NM_001129830:exon17:c.C2436T:p.D812D,CACNA1C:NM_001129831:exon17:c.C2436T:p.D812D,CACNA1C:NM_001129832:exon17:c.C2436T:p.D812D,CACNA1C:NM_001129833:exon17:c.C2436T:p.D812D,CACNA1C:NM_001129834:exon17:c.C2436T:p.D812D,CACNA1C:NM_001129835:exon17:c.C2436T:p.D812D,CACNA1C:NM_001129836:exon17:c.C2436T:p.D812D,CACNA1C:NM_001129837:exon17:c.C2436T:p.D812D,CACNA1C:NM_001129838:exon17:c.C2436T:p.D812D,CACNA1C:NM_001129839:exon17:c.C2436T:p.D812D,CACNA1C:NM_001129840:exon17:c.C2436T:p.D812D,CACNA1C:NM_001129841:exon17:c.C2436T:p.D812D,CACNA1C:NM_001129842:exon17:c.C2436T:p.D812D,CACNA1C:NM_001129843:exon17:c.C2436T:p.D812D,CACNA1C:NM_001129844:exon17:c.C2427T:p.D809D,CACNA1C:NM_001129846:exon17:c.C2436T:p.D812D,CACNA1C:NM_001167623:exon17:c.C2436T:p.D812D,CACNA1C:NM_001167624:exon17:c.C2436T:p.D812D,CACNA1C:NM_001167625:exon17:c.C2436T:p.D812D,CACNA1C:NM_199460:exon17:c.C2436T:p.D812D;cytoBand=12p13.33;genomicSuperDups=.;esp6500siv2_all=0.0791;esp6500siv2_ea=0.0786;esp6500siv2_all=0.0791;esp6500siv2_ea=0.0786;1000g2015aug_all=0.145567;avsnp147=rs215976;Kaviar_AF=0.0873727;Kaviar_AC=13508;Kaviar_AN=154602;ExAC_ALL=0.1621;ExAC_AFR=0.1135;ExAC_AMR=0.0978;ExAC_EAS=0.3391;ExAC_FIN=0.1483;ExAC_NFE=0.1305;ExAC_OTH=0.1732;ExAC_SAS=0.2099;CLNALLELEID=99305;CLNDN=Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.8049;dpsi_zscore=-1.835;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1118;gnomAD_exome_AFR=0.0872;gnomAD_exome_AMR=0.0572;gnomAD_exome_ASJ=0.1476;gnomAD_exome_EAS=0.2878;gnomAD_exome_FIN=0.1061;gnomAD_exome_NFE=0.0851;gnomAD_exome_OTH=0.1055;gnomAD_exome_SAS=0.1590;gnomAD_genome_ALL=0.0917;gnomAD_genome_AFR=0.0791;gnomAD_genome_AMR=0.0621;gnomAD_genome_ASJ=0.1457;gnomAD_genome_EAS=0.2911;gnomAD_genome_FIN=0.1016;gnomAD_genome_NFE=0.0765;gnomAD_genome_OTH=0.0799;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1/1:65:0,65 . . . . . . . . . . . . . 1:162:0,78 . 1:109:0,56 . . . . . . 1:122:0,57 . . 1:103:0,54 1:113:0,55 . . . . . . . . . 1/1:65:0,65 1:86:0,36 . . . 12 2721131 93403;rs201258230 C A 148.45 . #_unique_end_positions=,14;#_unique_start_positions=,14;AC=2;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0;AF_ESP_clinvar_20171029_hg19=,0.0020;AF_EXAC_clinvar_20171029_hg19=,0.00233;AF_TGP_clinvar_20171029_hg19=,0.0004;ALLELEID_clinvar_20171029_hg19=,99310;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0029;AN=2;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;CLNDISDB_clinvar_20171029_hg19=,MeSH:D008133|MedGen:C0023976|SNOMED_CT:9651007|MedGen:C1142166|Orphanet:ORPHA130|SNOMED_CT:418818005|MedGen:C1832916|OMIM:601005|Orphanet:ORPHA65283|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000012.11:g.2721131C>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_conflicting_interpretations;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:152637;Coding_region_change=,NM_000719.6:c.3780C>A|_NM_001129827.1:c.3840C>A|_NM_001129829.1:c.3780C>A|_NM_001129830.2:c.3780C>A|_NM_001129831.1:c.3780C>A|_NM_001129832.1:c.3840C>A|_NM_001129833.1:c.3780C>A|_NM_001129834.1:c.3780C>A|_NM_001129835.1:c.3780C>A|_NM_001129836.1:c.3780C>A|_NM_001129837.1:c.3780C>A|_NM_001129838.1:c.3780C>A|_NM_001129839.1:c.3780C>A|_NM_001129840.1:c.3780C>A|_NM_001129841.1:c.3780C>A|_NM_001129842.1:c.3780C>A|_NM_001129843.1:c.3780C>A|_NM_001129844.1:c.3771C>A|_NM_001129846.1:c.3780C>A|_NM_001167623.1:c.3780C>A|_NM_001167624.2:c.3780C>A|_NM_001167625.1:c.3780C>A|_NM_199460.3:c.3840C>A;Coding_region_change_in_longest_transcript=,NM_199460.3:c.3840C>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0;Exact_match=,clinvar_20171029_hg19|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,26;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:775;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:775;Genotype=,A/C;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:1390;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:1390;Homo_sapiens_refseq_GRCh37.p13_Genes=,CACNA1C;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001129839.1|NM_001129837.1|NM_001129838.1|NM_001129846.1|NM_001167623.1|NM_001167625.1|NM_001129840.1|NM_001129833.1|NM_001129842.1|NM_001129829.1|NM_001129834.1|NM_000719.6|NM_001129836.1|NM_001129841.1|NM_001129835.1|NM_001129843.1|NM_001129844.1|NM_001129832.1|NM_001129831.1|NM_001129827.1|NM_001167624.2|NM_001129830.2|NM_199460.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene24765;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna35915|rna35914|rna35920|rna35921|rna35903|rna35904|rna35905|rna35909|rna35910|rna35911|rna35912|rna35913|rna35916|rna35917|rna35918|rna35919|rna35922|rna35907|rna35908|rna35906|rna35923|rna35925|rna35924;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:114205;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:114205;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene24765;QUAL=,96.90059998811272;Read_count=,15;Read_coverage=,40;Read_direction_test_probability=,0.9929631868212978;Read_position_test_probability=,0.9603565029387704;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001129839.1|NM_001129837.1|NM_001129838.1|NM_001129846.1|NM_001167623.1|NM_001167625.1|NM_001129840.1|NM_001129833.1|NM_001129842.1|NM_001129829.1|NM_001129834.1|NM_000719.6|NM_001129836.1|NM_001129841.1|NM_001129835.1|NM_001129843.1|NM_001129844.1|NM_001129832.1|NM_001129831.1|NM_001129827.1|NM_001167624.2|NM_001129830.2|NM_199460.3;Reverse_read_coverage=,14;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0;SF=31,34;conservation_score=,1.0;db_xref=,GeneID:775|HGNC:HGNC:1390|MIM:114205;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001129839.1|Genbank:NM_001129837.1|Genbank:NM_001129838.1|Genbank:NM_001129846.1|Genbank:NM_001167623.1|Genbank:NM_001167625.1|Genbank:NM_001129840.1|Genbank:NM_001129833.1|Genbank:NM_001129842.1|Genbank:NM_001129829.1|Genbank:NM_001129834.1|Genbank:NM_000719.6|Genbank:NM_001129836.1|Genbank:NM_001129841.1|Genbank:NM_001129835.1|Genbank:NM_001129843.1|Genbank:NM_001129844.1|Genbank:NM_001129832.1|Genbank:NM_001129831.1|Genbank:NM_001129827.1|Genbank:NM_001167624.2|Genbank:NM_001129830.2|Genbank:NM_199460.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,calcium_voltage-gated_channel_subunit_alpha1_C;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CACNA1C;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,CACNA1C;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CACH2|CACN2|CACNL1A1|CaV1.2|CCHL1A1|LQT8|TS;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_13|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_11|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_12|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_20|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_21|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_23|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_14|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_7|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_16|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_3|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_8|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_18|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_10|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_15|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_9|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_17|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_19|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_6|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_5|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_2|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_22|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_4|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_1;transcript_id=,NM_001129839.1|NM_001129837.1|NM_001129838.1|NM_001129846.1|NM_001167623.1|NM_001167625.1|NM_001129840.1|NM_001129833.1|NM_001129842.1|NM_001129829.1|NM_001129834.1|NM_000719.6|NM_001129836.1|NM_001129841.1|NM_001129835.1|NM_001129843.1|NM_001129844.1|NM_001129832.1|NM_001129831.1|NM_001129827.1|NM_001167624.2|NM_001129830.2|NM_199460.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CACNA1C:NM_000719:exon29:c.C3780A:p.G1260G,CACNA1C:NM_001129829:exon29:c.C3780A:p.G1260G,CACNA1C:NM_001129830:exon29:c.C3780A:p.G1260G,CACNA1C:NM_001129831:exon29:c.C3780A:p.G1260G,CACNA1C:NM_001129833:exon29:c.C3780A:p.G1260G,CACNA1C:NM_001129834:exon29:c.C3780A:p.G1260G,CACNA1C:NM_001129835:exon29:c.C3780A:p.G1260G,CACNA1C:NM_001129836:exon29:c.C3780A:p.G1260G,CACNA1C:NM_001129837:exon29:c.C3780A:p.G1260G,CACNA1C:NM_001129838:exon29:c.C3780A:p.G1260G,CACNA1C:NM_001129839:exon29:c.C3780A:p.G1260G,CACNA1C:NM_001129840:exon29:c.C3780A:p.G1260G,CACNA1C:NM_001129841:exon29:c.C3780A:p.G1260G,CACNA1C:NM_001129842:exon29:c.C3780A:p.G1260G,CACNA1C:NM_001129843:exon29:c.C3780A:p.G1260G,CACNA1C:NM_001129844:exon29:c.C3771A:p.G1257G,CACNA1C:NM_001129846:exon29:c.C3780A:p.G1260G,CACNA1C:NM_001167623:exon29:c.C3780A:p.G1260G,CACNA1C:NM_001167624:exon29:c.C3780A:p.G1260G,CACNA1C:NM_001167625:exon29:c.C3780A:p.G1260G,CACNA1C:NM_001129827:exon30:c.C3840A:p.G1280G,CACNA1C:NM_001129832:exon30:c.C3840A:p.G1280G,CACNA1C:NM_199460:exon30:c.C3840A:p.G1280G;cytoBand=12p13.33;genomicSuperDups=.;esp6500siv2_all=0.0020;esp6500siv2_ea=0.0029;esp6500siv2_all=0.0020;esp6500siv2_ea=0.0029;1000g2015aug_all=0.000399361;avsnp147=rs201258230;Kaviar_AF=0.0021345;Kaviar_AC=330;Kaviar_AN=154602;ExAC_ALL=0.0023;ExAC_AFR=0.0003;ExAC_AMR=0.0033;ExAC_EAS=0.0001;ExAC_FIN=0;ExAC_NFE=0.0024;ExAC_OTH=0.0066;ExAC_SAS=0.0046;CLNALLELEID=99310;CLNDN=Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=2.1850;dpsi_zscore=2.026;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0021;gnomAD_exome_AFR=0.0001;gnomAD_exome_AMR=0.0026;gnomAD_exome_ASJ=0.0026;gnomAD_exome_EAS=5.798e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0021;gnomAD_exome_OTH=0.0046;gnomAD_exome_SAS=0.0046;gnomAD_genome_ALL=0.0009;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0015;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:33:0,14 . . 1:56:0,28 . . . . . . . 12 2721137 93404;rs216008 C T 157.79 . #_unique_end_positions=,25;#_unique_start_positions=,24;AC=23;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2413;AF_EXAC_clinvar_20171029_hg19=,0.20951;AF_TGP_clinvar_20171029_hg19=,0.2592;ALLELEID_clinvar_20171029_hg19=,99311;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2262;AN=23;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.22;CAF_dbsnp_common_v150_hg19_refseq=,0.7408|0.2592;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1142166|Orphanet:ORPHA130|SNOMED_CT:418818005|MedGen:C1832916|OMIM:601005|Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736;CLNDN_clinvar_20171029_hg19=,Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype;CLNHGVS_clinvar_20171029_hg19=,NC_000012.11:g.2721137C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:9575;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000719.6:c.3786C>T|_NM_001129827.1:c.3846C>T|_NM_001129829.1:c.3786C>T|_NM_001129830.2:c.3786C>T|_NM_001129831.1:c.3786C>T|_NM_001129832.1:c.3846C>T|_NM_001129833.1:c.3786C>T|_NM_001129834.1:c.3786C>T|_NM_001129835.1:c.3786C>T|_NM_001129836.1:c.3786C>T|_NM_001129837.1:c.3786C>T|_NM_001129838.1:c.3786C>T|_NM_001129839.1:c.3786C>T|_NM_001129840.1:c.3786C>T|_NM_001129841.1:c.3786C>T|_NM_001129842.1:c.3786C>T|_NM_001129843.1:c.3786C>T|_NM_001129844.1:c.3777C>T|_NM_001129846.1:c.3786C>T|_NM_001167623.1:c.3786C>T|_NM_001167624.2:c.3786C>T|_NM_001167625.1:c.3786C>T|_NM_199460.3:c.3846C>T;Coding_region_change_in_longest_transcript=,NM_199460.3:c.3846C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3512;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2087;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,23;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,CACNA1C:775;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:775;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:775;Genotype=,T/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:1390;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:1390;Homo_sapiens_refseq_GRCh37.p13_Genes=,CACNA1C;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001129839.1|NM_001129837.1|NM_001129838.1|NM_001129846.1|NM_001167623.1|NM_001167625.1|NM_001129840.1|NM_001129833.1|NM_001129842.1|NM_001129829.1|NM_001129834.1|NM_000719.6|NM_001129836.1|NM_001129841.1|NM_001129835.1|NM_001129843.1|NM_001129844.1|NM_001129832.1|NM_001129831.1|NM_001129827.1|NM_001167624.2|NM_001129830.2|NM_199460.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene24765;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna35915|rna35914|rna35920|rna35921|rna35903|rna35904|rna35905|rna35909|rna35910|rna35911|rna35912|rna35913|rna35916|rna35917|rna35918|rna35919|rna35922|rna35907|rna35908|rna35906|rna35923|rna35925|rna35924;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:114205;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:114205;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene24765;QUAL=,119.43230816484393;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,2721137;RS_dbsnp_common_v150_hg19_refseq=,216008;Read_count=,34;Read_coverage=,34;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001129839.1|NM_001129837.1|NM_001129838.1|NM_001129846.1|NM_001167623.1|NM_001167625.1|NM_001129840.1|NM_001129833.1|NM_001129842.1|NM_001129829.1|NM_001129834.1|NM_000719.6|NM_001129836.1|NM_001129841.1|NM_001129835.1|NM_001129843.1|NM_001129844.1|NM_001129832.1|NM_001129831.1|NM_001129827.1|NM_001167624.2|NM_001129830.2|NM_199460.3;Reverse_read_coverage=,11;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2638;SF=0,1,10,13,14,16,23,24,26,27,30,35,36,37,38,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.791572|0.208428;TPA_dbsnp_common_v150_hg19_refseq=,TPA;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05013800030517053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.214286;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.199115;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.390244;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.392857;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.272727;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.302326;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.447674;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.294444;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.17;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.335664;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.284091;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.247788;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:775|HGNC:HGNC:1390|MIM:114205;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001129839.1|Genbank:NM_001129837.1|Genbank:NM_001129838.1|Genbank:NM_001129846.1|Genbank:NM_001167623.1|Genbank:NM_001167625.1|Genbank:NM_001129840.1|Genbank:NM_001129833.1|Genbank:NM_001129842.1|Genbank:NM_001129829.1|Genbank:NM_001129834.1|Genbank:NM_000719.6|Genbank:NM_001129836.1|Genbank:NM_001129841.1|Genbank:NM_001129835.1|Genbank:NM_001129843.1|Genbank:NM_001129844.1|Genbank:NM_001129832.1|Genbank:NM_001129831.1|Genbank:NM_001129827.1|Genbank:NM_001167624.2|Genbank:NM_001129830.2|Genbank:NM_199460.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,calcium_voltage-gated_channel_subunit_alpha1_C;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CACNA1C;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,CACNA1C;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CACH2|CACN2|CACNL1A1|CaV1.2|CCHL1A1|LQT8|TS;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_13|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_11|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_12|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_20|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_21|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_23|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_14|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_7|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_16|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_3|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_8|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_18|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_10|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_15|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_9|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_17|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_19|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_6|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_5|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_2|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_22|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_4|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_1;transcript_id=,NM_001129839.1|NM_001129837.1|NM_001129838.1|NM_001129846.1|NM_001167623.1|NM_001167625.1|NM_001129840.1|NM_001129833.1|NM_001129842.1|NM_001129829.1|NM_001129834.1|NM_000719.6|NM_001129836.1|NM_001129841.1|NM_001129835.1|NM_001129843.1|NM_001129844.1|NM_001129832.1|NM_001129831.1|NM_001129827.1|NM_001167624.2|NM_001129830.2|NM_199460.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CACNA1C:NM_000719:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129829:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129830:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129831:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129833:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129834:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129835:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129836:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129837:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129838:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129839:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129840:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129841:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129842:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129843:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129844:exon29:c.C3777T:p.F1259F,CACNA1C:NM_001129846:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001167623:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001167624:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001167625:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129827:exon30:c.C3846T:p.F1282F,CACNA1C:NM_001129832:exon30:c.C3846T:p.F1282F,CACNA1C:NM_199460:exon30:c.C3846T:p.F1282F;cytoBand=12p13.33;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.259185;avsnp147=rs216008;Kaviar_AF=0.205521;Kaviar_AC=31774;Kaviar_AN=154602;ExAC_ALL=0.2095;ExAC_AFR=0.2357;ExAC_AMR=0.2124;ExAC_EAS=0.3527;ExAC_FIN=0.1621;ExAC_NFE=0.1852;ExAC_OTH=0.2201;ExAC_SAS=0.2337;CLNALLELEID=99311;CLNDN=Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.0529;dpsi_zscore=-1.501;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2097;gnomAD_exome_AFR=0.2336;gnomAD_exome_AMR=0.2170;gnomAD_exome_ASJ=0.2365;gnomAD_exome_EAS=0.3519;gnomAD_exome_FIN=0.1596;gnomAD_exome_NFE=0.1838;gnomAD_exome_OTH=0.2140;gnomAD_exome_SAS=0.2313;gnomAD_genome_ALL=0.2088;gnomAD_genome_AFR=0.2347;gnomAD_genome_AMR=0.1897;gnomAD_genome_ASJ=0.2715;gnomAD_genome_EAS=0.3688;gnomAD_genome_FIN=0.1554;gnomAD_genome_NFE=0.1901;gnomAD_genome_OTH=0.1878;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1/1:30:0,30 1:63:0,31 . . . . . . . . 1:52:0,21 . . 1/1:40:0,40 1:75:0,43 . 1/1:41:0,41 . . . . . . 1/1:57:0,57 1:61:0,32 . 1:46:0,22 1:88:0,40 . . 1:56:0,29 . . . . 1:32:0,10 1:38:0,17 1/1:32:0,32 1/1:33:0,33 . 1:73:0,34 1:28:0,13 12 2760898 136623;rs56180838 C T 200.00 . #_unique_end_positions=,35;#_unique_start_positions=,29;AC=7;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.003;AF_ESP_clinvar_20171029_hg19=,0.0494;AF_EXAC_clinvar_20171029_hg19=,0.04888;AF_TGP_clinvar_20171029_hg19=,0.0238;ALLELEID_clinvar_20171029_hg19=,140326;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0389;AN=7;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.9762|0.02376;CLNDISDB_clinvar_20171029_hg19=,MeSH:D008133|MedGen:C0023976|SNOMED_CT:9651007|MedGen:C1142166|Orphanet:ORPHA130|SNOMED_CT:418818005|MedGen:C1832916|OMIM:601005|Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736;CLNDN_clinvar_20171029_hg19=,Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype;CLNHGVS_clinvar_20171029_hg19=,NC_000012.11:g.2760898C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:9595;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000719.6:c.4038C>T|_NM_001129827.1:c.4182C>T|_NM_001129829.1:c.4104C>T|_NM_001129830.2:c.4038C>T|_NM_001129831.1:c.4122C>T|_NM_001129832.1:c.4098C>T|_NM_001129833.1:c.4038C>T|_NM_001129834.1:c.4038C>T|_NM_001129835.1:c.4038C>T|_NM_001129836.1:c.4089C>T|_NM_001129837.1:c.4005C>T|_NM_001129838.1:c.4005C>T|_NM_001129839.1:c.3999C>T|_NM_001129840.1:c.4038C>T|_NM_001129841.1:c.4038C>T|_NM_001129842.1:c.4038C>T|_NM_001129843.1:c.4038C>T|_NM_001129844.1:c.4029C>T|_NM_001129846.1:c.4005C>T|_NM_001167623.1:c.4038C>T|_NM_001167624.2:c.4038C>T|_NM_001167625.1:c.4005C>T|_NM_199460.3:c.4182C>T;Coding_region_change_in_longest_transcript=,NM_199460.3:c.4182C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0825;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,40;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,CACNA1C:775;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:775;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:775;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:1390;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:1390;Homo_sapiens_refseq_GRCh37.p13_Genes=,CACNA1C;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001129839.1|NM_001129837.1|NM_001129838.1|NM_001129846.1|NM_001167623.1|NM_001167625.1|NM_001129840.1|NM_001129833.1|NM_001129842.1|NM_001129829.1|NM_001129834.1|NM_000719.6|NM_001129836.1|NM_001129841.1|NM_001129835.1|NM_001129843.1|NM_001129844.1|NM_001129832.1|NM_001129831.1|NM_001129827.1|NM_001167624.2|NM_001129830.2|NM_199460.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene24765;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna35915|rna35914|rna35920|rna35921|rna35903|rna35904|rna35905|rna35909|rna35910|rna35911|rna35912|rna35913|rna35916|rna35917|rna35918|rna35919|rna35922|rna35907|rna35908|rna35906|rna35923|rna35925|rna35924;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:114205;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:114205;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene24765;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,2760898;RS_dbsnp_common_v150_hg19_refseq=,56180838;Read_count=,58;Read_coverage=,117;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.1846787820675143;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001129839.1|NM_001129837.1|NM_001129838.1|NM_001129846.1|NM_001167623.1|NM_001167625.1|NM_001129840.1|NM_001129833.1|NM_001129842.1|NM_001129829.1|NM_001129834.1|NM_000719.6|NM_001129836.1|NM_001129841.1|NM_001129835.1|NM_001129843.1|NM_001129844.1|NM_001129832.1|NM_001129831.1|NM_001129827.1|NM_001167624.2|NM_001129830.2|NM_199460.3;Reverse_read_coverage=,77;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0051;SF=4,8,10,25,30,36,41;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.964627|0.0353733;TPA_dbsnp_common_v150_hg19_refseq=,TPA;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050078000305150536100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:775|HGNC:HGNC:1390|MIM:114205;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001129839.1|Genbank:NM_001129837.1|Genbank:NM_001129838.1|Genbank:NM_001129846.1|Genbank:NM_001167623.1|Genbank:NM_001167625.1|Genbank:NM_001129840.1|Genbank:NM_001129833.1|Genbank:NM_001129842.1|Genbank:NM_001129829.1|Genbank:NM_001129834.1|Genbank:NM_000719.6|Genbank:NM_001129836.1|Genbank:NM_001129841.1|Genbank:NM_001129835.1|Genbank:NM_001129843.1|Genbank:NM_001129844.1|Genbank:NM_001129832.1|Genbank:NM_001129831.1|Genbank:NM_001129827.1|Genbank:NM_001167624.2|Genbank:NM_001129830.2|Genbank:NM_199460.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,calcium_voltage-gated_channel_subunit_alpha1_C;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CACNA1C;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,CACNA1C;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CACH2|CACN2|CACNL1A1|CaV1.2|CCHL1A1|LQT8|TS;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_13|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_11|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_12|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_20|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_21|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_23|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_14|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_7|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_16|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_3|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_8|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_18|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_10|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_15|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_9|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_17|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_19|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_6|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_5|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_2|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_22|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_4|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_1;transcript_id=,NM_001129839.1|NM_001129837.1|NM_001129838.1|NM_001129846.1|NM_001167623.1|NM_001167625.1|NM_001129840.1|NM_001129833.1|NM_001129842.1|NM_001129829.1|NM_001129834.1|NM_000719.6|NM_001129836.1|NM_001129841.1|NM_001129835.1|NM_001129843.1|NM_001129844.1|NM_001129832.1|NM_001129831.1|NM_001129827.1|NM_001167624.2|NM_001129830.2|NM_199460.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CACNA1C:NM_001129837:exon31:c.C4005T:p.I1335I,CACNA1C:NM_001129838:exon31:c.C4005T:p.I1335I,CACNA1C:NM_001129839:exon31:c.C3999T:p.I1333I,CACNA1C:NM_001129846:exon31:c.C4005T:p.I1335I,CACNA1C:NM_001167625:exon31:c.C4005T:p.I1335I,CACNA1C:NM_000719:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129829:exon32:c.C4104T:p.I1368I,CACNA1C:NM_001129830:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129833:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129834:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129835:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129836:exon32:c.C4089T:p.I1363I,CACNA1C:NM_001129840:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129841:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129842:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129843:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129844:exon32:c.C4029T:p.I1343I,CACNA1C:NM_001167623:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001167624:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129831:exon33:c.C4122T:p.I1374I,CACNA1C:NM_001129832:exon33:c.C4098T:p.I1366I,CACNA1C:NM_001129827:exon34:c.C4182T:p.I1394I,CACNA1C:NM_199460:exon34:c.C4182T:p.I1394I;cytoBand=12p13.33;genomicSuperDups=.;esp6500siv2_all=0.0494;esp6500siv2_ea=0.0673;esp6500siv2_all=0.0494;esp6500siv2_ea=0.0673;1000g2015aug_all=0.023762;avsnp147=rs56180838;Kaviar_AF=0.0483758;Kaviar_AC=7479;Kaviar_AN=154602;ExAC_ALL=0.0489;ExAC_AFR=0.0123;ExAC_AMR=0.0261;ExAC_EAS=0;ExAC_FIN=0.0867;ExAC_NFE=0.0683;ExAC_OTH=0.0504;ExAC_SAS=0.0173;CLNALLELEID=140326;CLNDN=Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.4409;dpsi_zscore=-1.030;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0478;gnomAD_exome_AFR=0.0114;gnomAD_exome_AMR=0.0276;gnomAD_exome_ASJ=0.0506;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0.0824;gnomAD_exome_NFE=0.0672;gnomAD_exome_OTH=0.0535;gnomAD_exome_SAS=0.0176;gnomAD_genome_ALL=0.0483;gnomAD_genome_AFR=0.0107;gnomAD_genome_AMR=0.0286;gnomAD_genome_ASJ=0.0596;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0774;gnomAD_genome_NFE=0.0676;gnomAD_genome_OTH=0.0768;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . 1:104:0,55 . . . 1:153:0,75 . 1:172:0,91 . . . . . . . . . . . . . . 1:140:0,70 . . . . 1:147:0,71 . . . . . 1:129:0,60 . . . . 1:114:0,43 12 2760898 136623;rs56180838 C T 200.00 . #_unique_end_positions=,35;#_unique_start_positions=,29;AC=7;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.003;AF_ESP_clinvar_20171029_hg19=,0.0494;AF_EXAC_clinvar_20171029_hg19=,0.04888;AF_TGP_clinvar_20171029_hg19=,0.0238;ALLELEID_clinvar_20171029_hg19=,140326;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0389;AN=7;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.9762|0.02376;CLNDISDB_clinvar_20171029_hg19=,MeSH:D008133|MedGen:C0023976|SNOMED_CT:9651007|MedGen:C1142166|Orphanet:ORPHA130|SNOMED_CT:418818005|MedGen:C1832916|OMIM:601005|Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736;CLNDN_clinvar_20171029_hg19=,Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype;CLNHGVS_clinvar_20171029_hg19=,NC_000012.11:g.2760898C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:9595;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000719.6:c.4038C>T|_NM_001129827.1:c.4182C>T|_NM_001129829.1:c.4104C>T|_NM_001129830.2:c.4038C>T|_NM_001129831.1:c.4122C>T|_NM_001129832.1:c.4098C>T|_NM_001129833.1:c.4038C>T|_NM_001129834.1:c.4038C>T|_NM_001129835.1:c.4038C>T|_NM_001129836.1:c.4089C>T|_NM_001129837.1:c.4005C>T|_NM_001129838.1:c.4005C>T|_NM_001129839.1:c.3999C>T|_NM_001129840.1:c.4038C>T|_NM_001129841.1:c.4038C>T|_NM_001129842.1:c.4038C>T|_NM_001129843.1:c.4038C>T|_NM_001129844.1:c.4029C>T|_NM_001129846.1:c.4005C>T|_NM_001167623.1:c.4038C>T|_NM_001167624.2:c.4038C>T|_NM_001167625.1:c.4005C>T|_NM_199460.3:c.4182C>T;Coding_region_change_in_longest_transcript=,NM_199460.3:c.4182C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0825;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,40;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,CACNA1C:775;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:775;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:775;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:1390;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:1390;Homo_sapiens_refseq_GRCh37.p13_Genes=,CACNA1C;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001129839.1|NM_001129837.1|NM_001129838.1|NM_001129846.1|NM_001167623.1|NM_001167625.1|NM_001129840.1|NM_001129833.1|NM_001129842.1|NM_001129829.1|NM_001129834.1|NM_000719.6|NM_001129836.1|NM_001129841.1|NM_001129835.1|NM_001129843.1|NM_001129844.1|NM_001129832.1|NM_001129831.1|NM_001129827.1|NM_001167624.2|NM_001129830.2|NM_199460.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene24765;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna35915|rna35914|rna35920|rna35921|rna35903|rna35904|rna35905|rna35909|rna35910|rna35911|rna35912|rna35913|rna35916|rna35917|rna35918|rna35919|rna35922|rna35907|rna35908|rna35906|rna35923|rna35925|rna35924;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:114205;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:114205;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene24765;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,2760898;RS_dbsnp_common_v150_hg19_refseq=,56180838;Read_count=,58;Read_coverage=,117;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.1846787820675143;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001129839.1|NM_001129837.1|NM_001129838.1|NM_001129846.1|NM_001167623.1|NM_001167625.1|NM_001129840.1|NM_001129833.1|NM_001129842.1|NM_001129829.1|NM_001129834.1|NM_000719.6|NM_001129836.1|NM_001129841.1|NM_001129835.1|NM_001129843.1|NM_001129844.1|NM_001129832.1|NM_001129831.1|NM_001129827.1|NM_001167624.2|NM_001129830.2|NM_199460.3;Reverse_read_coverage=,77;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0051;SF=4,8,10,25,30,36,41;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.964627|0.0353733;TPA_dbsnp_common_v150_hg19_refseq=,TPA;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050078000305150536100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:775|HGNC:HGNC:1390|MIM:114205;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001129839.1|Genbank:NM_001129837.1|Genbank:NM_001129838.1|Genbank:NM_001129846.1|Genbank:NM_001167623.1|Genbank:NM_001167625.1|Genbank:NM_001129840.1|Genbank:NM_001129833.1|Genbank:NM_001129842.1|Genbank:NM_001129829.1|Genbank:NM_001129834.1|Genbank:NM_000719.6|Genbank:NM_001129836.1|Genbank:NM_001129841.1|Genbank:NM_001129835.1|Genbank:NM_001129843.1|Genbank:NM_001129844.1|Genbank:NM_001129832.1|Genbank:NM_001129831.1|Genbank:NM_001129827.1|Genbank:NM_001167624.2|Genbank:NM_001129830.2|Genbank:NM_199460.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,calcium_voltage-gated_channel_subunit_alpha1_C;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CACNA1C;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,CACNA1C;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CACH2|CACN2|CACNL1A1|CaV1.2|CCHL1A1|LQT8|TS;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_13|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_11|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_12|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_20|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_21|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_23|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_14|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_7|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_16|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_3|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_8|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_18|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_10|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_15|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_9|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_17|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_19|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_6|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_5|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_2|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_22|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_4|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_1;transcript_id=,NM_001129839.1|NM_001129837.1|NM_001129838.1|NM_001129846.1|NM_001167623.1|NM_001167625.1|NM_001129840.1|NM_001129833.1|NM_001129842.1|NM_001129829.1|NM_001129834.1|NM_000719.6|NM_001129836.1|NM_001129841.1|NM_001129835.1|NM_001129843.1|NM_001129844.1|NM_001129832.1|NM_001129831.1|NM_001129827.1|NM_001167624.2|NM_001129830.2|NM_199460.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CACNA1C:NM_001129837:exon31:c.C4005T:p.I1335I,CACNA1C:NM_001129838:exon31:c.C4005T:p.I1335I,CACNA1C:NM_001129839:exon31:c.C3999T:p.I1333I,CACNA1C:NM_001129846:exon31:c.C4005T:p.I1335I,CACNA1C:NM_001167625:exon31:c.C4005T:p.I1335I,CACNA1C:NM_000719:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129829:exon32:c.C4104T:p.I1368I,CACNA1C:NM_001129830:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129833:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129834:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129835:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129836:exon32:c.C4089T:p.I1363I,CACNA1C:NM_001129840:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129841:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129842:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129843:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129844:exon32:c.C4029T:p.I1343I,CACNA1C:NM_001167623:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001167624:exon32:c.C4038T:p.I1346I,CACNA1C:NM_001129831:exon33:c.C4122T:p.I1374I,CACNA1C:NM_001129832:exon33:c.C4098T:p.I1366I,CACNA1C:NM_001129827:exon34:c.C4182T:p.I1394I,CACNA1C:NM_199460:exon34:c.C4182T:p.I1394I;cytoBand=12p13.33;genomicSuperDups=.;esp6500siv2_all=0.0494;esp6500siv2_ea=0.0673;esp6500siv2_all=0.0494;esp6500siv2_ea=0.0673;1000g2015aug_all=0.023762;avsnp147=rs56180838;Kaviar_AF=0.0483758;Kaviar_AC=7479;Kaviar_AN=154602;ExAC_ALL=0.0489;ExAC_AFR=0.0123;ExAC_AMR=0.0261;ExAC_EAS=0;ExAC_FIN=0.0867;ExAC_NFE=0.0683;ExAC_OTH=0.0504;ExAC_SAS=0.0173;CLNALLELEID=140326;CLNDN=Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.4409;dpsi_zscore=-1.030;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0478;gnomAD_exome_AFR=0.0114;gnomAD_exome_AMR=0.0276;gnomAD_exome_ASJ=0.0506;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0.0824;gnomAD_exome_NFE=0.0672;gnomAD_exome_OTH=0.0535;gnomAD_exome_SAS=0.0176;gnomAD_genome_ALL=0.0483;gnomAD_genome_AFR=0.0107;gnomAD_genome_AMR=0.0286;gnomAD_genome_ASJ=0.0596;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0774;gnomAD_genome_NFE=0.0676;gnomAD_genome_OTH=0.0768;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . 1:104:0,55 . . . 1:153:0,75 . 1:172:0,91 . . . . . . . . . . . . . . 1:140:0,70 . . . . 1:147:0,71 . . . . . 1:129:0,60 . . . . 1:114:0,43 12 2788615 93409;rs113595214 C T 147.71 . #_unique_end_positions=,36;#_unique_start_positions=,30;AC=2;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0015;AF_ESP_clinvar_20171029_hg19=,0.0055;AF_EXAC_clinvar_20171029_hg19=,0.02201;AF_TGP_clinvar_20171029_hg19=,0.0030;ALLELEID_clinvar_20171029_hg19=,99316;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0029;AN=2;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.13;CAF_dbsnp_common_v150_hg19_refseq=,0.997|0.002995;CLNDISDB_clinvar_20171029_hg19=,MeSH:D008133|MedGen:C0023976|SNOMED_CT:9651007|MedGen:C1142166|Orphanet:ORPHA130|SNOMED_CT:418818005|MedGen:C1832916|OMIM:601005|Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736;CLNDN_clinvar_20171029_hg19=,Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype;CLNHGVS_clinvar_20171029_hg19=,NC_000012.11:g.2788615C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:100268;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000719.6:c.5097C>T|_NM_001129827.1:c.5241C>T|_NM_001129829.1:c.5220C>T|_NM_001129830.2:c.5097C>T|_NM_001129831.1:c.5181C>T|_NM_001129832.1:c.5157C>T|_NM_001129833.1:c.5154C>T|_NM_001129834.1:c.5154C>T|_NM_001129835.1:c.5154C>T|_NM_001129836.1:c.5148C>T|_NM_001129837.1:c.5121C>T|_NM_001129838.1:c.5121C>T|_NM_001129839.1:c.5115C>T|_NM_001129840.1:c.5097C>T|_NM_001129841.1:c.5097C>T|_NM_001129842.1:c.5097C>T|_NM_001129843.1:c.5097C>T|_NM_001129844.1:c.5088C>T|_NM_001129846.1:c.5064C>T|_NM_001167623.1:c.5097C>T|_NM_001167624.2:c.5097C>T|_NM_001167625.1:c.5064C>T|_NM_199460.3:c.5241C>T;Coding_region_change_in_longest_transcript=,NM_199460.3:c.5241C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0109;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,70;GENEINFO_dbsnp_common_v150_hg19_refseq=,CACNA1C-AS1:100652846|CACNA1C:775;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:775|GeneID:100652846;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:775;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:1390|HGNC:HGNC:40119;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:1390;Homo_sapiens_refseq_GRCh37.p13_Genes=,CACNA1C|CACNA1C-AS1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001129839.1|NM_001129837.1|NM_001129838.1|NM_001129846.1|NM_001167623.1|NM_001167625.1|NM_001129840.1|NM_001129833.1|NM_001129842.1|NM_001129829.1|NM_001129834.1|NM_000719.6|NM_001129836.1|NM_001129841.1|NM_001129835.1|NM_001129843.1|NM_001129844.1|NM_001129832.1|NM_001129831.1|NM_001129827.1|NM_001167624.2|NM_001129830.2|NM_199460.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene24765|gene24770;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna35915|rna35914|rna35920|rna35921|rna35903|rna35904|rna35905|rna35909|rna35910|rna35911|rna35912|rna35913|rna35916|rna35917|rna35918|rna35919|rna35922|rna35907|rna35908|rna35906|rna35923|rna35925|rna35924;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:114205;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:114205;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene24765;QUAL=,95.41948150474654;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,2788615;RS_dbsnp_common_v150_hg19_refseq=,113595214;Read_count=,55;Read_coverage=,79;Read_direction_test_probability=,0.9991692733314533;Read_position_test_probability=,0.9620242675887163;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001129839.1|NM_001129837.1|NM_001129838.1|NM_001129846.1|NM_001167623.1|NM_001167625.1|NM_001129840.1|NM_001129833.1|NM_001129842.1|NM_001129829.1|NM_001129834.1|NM_000719.6|NM_001129836.1|NM_001129841.1|NM_001129835.1|NM_001129843.1|NM_001129844.1|NM_001129832.1|NM_001129831.1|NM_001129827.1|NM_001167624.2|NM_001129830.2|NM_199460.3;Reverse_read_coverage=,9;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0;SF=0,15;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.995398|0.00460196;TPA_dbsnp_common_v150_hg19_refseq=,TPA;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050138080305040136000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.997;db_xref=,GeneID:775|HGNC:HGNC:1390|MIM:114205|GeneID:100652846|HGNC:HGNC:40119;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001129839.1|Genbank:NM_001129837.1|Genbank:NM_001129838.1|Genbank:NM_001129846.1|Genbank:NM_001167623.1|Genbank:NM_001167625.1|Genbank:NM_001129840.1|Genbank:NM_001129833.1|Genbank:NM_001129842.1|Genbank:NM_001129829.1|Genbank:NM_001129834.1|Genbank:NM_000719.6|Genbank:NM_001129836.1|Genbank:NM_001129841.1|Genbank:NM_001129835.1|Genbank:NM_001129843.1|Genbank:NM_001129844.1|Genbank:NM_001129832.1|Genbank:NM_001129831.1|Genbank:NM_001129827.1|Genbank:NM_001167624.2|Genbank:NM_001129830.2|Genbank:NM_199460.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,calcium_voltage-gated_channel_subunit_alpha1_C|CACNA1C_antisense_RNA_1;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CACNA1C|CACNA1C-AS1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,CACNA1C;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding|lncRNA;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CACH2|CACN2|CACNL1A1|CaV1.2|CCHL1A1|LQT8|TS;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_13|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_11|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_12|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_20|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_21|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_23|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_14|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_7|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_16|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_3|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_8|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_18|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_10|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_15|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_9|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_17|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_19|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_6|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_5|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_2|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_22|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_4|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_1;transcript_id=,NM_001129839.1|NM_001129837.1|NM_001129838.1|NM_001129846.1|NM_001167623.1|NM_001167625.1|NM_001129840.1|NM_001129833.1|NM_001129842.1|NM_001129829.1|NM_001129834.1|NM_000719.6|NM_001129836.1|NM_001129841.1|NM_001129835.1|NM_001129843.1|NM_001129844.1|NM_001129832.1|NM_001129831.1|NM_001129827.1|NM_001167624.2|NM_001129830.2|NM_199460.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CACNA1C:NM_001129837:exon41:c.C5121T:p.A1707A,CACNA1C:NM_001129838:exon41:c.C5121T:p.A1707A,CACNA1C:NM_001129839:exon41:c.C5115T:p.A1705A,CACNA1C:NM_001129846:exon41:c.C5064T:p.A1688A,CACNA1C:NM_001167625:exon41:c.C5064T:p.A1688A,CACNA1C:NM_000719:exon42:c.C5097T:p.A1699A,CACNA1C:NM_001129829:exon42:c.C5220T:p.A1740A,CACNA1C:NM_001129830:exon42:c.C5097T:p.A1699A,CACNA1C:NM_001129833:exon42:c.C5154T:p.A1718A,CACNA1C:NM_001129834:exon42:c.C5154T:p.A1718A,CACNA1C:NM_001129835:exon42:c.C5154T:p.A1718A,CACNA1C:NM_001129836:exon42:c.C5148T:p.A1716A,CACNA1C:NM_001129840:exon42:c.C5097T:p.A1699A,CACNA1C:NM_001129841:exon42:c.C5097T:p.A1699A,CACNA1C:NM_001129842:exon42:c.C5097T:p.A1699A,CACNA1C:NM_001129843:exon42:c.C5097T:p.A1699A,CACNA1C:NM_001129844:exon42:c.C5088T:p.A1696A,CACNA1C:NM_001167623:exon42:c.C5097T:p.A1699A,CACNA1C:NM_001167624:exon42:c.C5097T:p.A1699A,CACNA1C:NM_001129831:exon43:c.C5181T:p.A1727A,CACNA1C:NM_001129832:exon43:c.C5157T:p.A1719A,CACNA1C:NM_001129827:exon44:c.C5241T:p.A1747A,CACNA1C:NM_199460:exon44:c.C5241T:p.A1747A;cytoBand=12p13.33;genomicSuperDups=.;esp6500siv2_all=0.0055;esp6500siv2_ea=0.0072;esp6500siv2_all=0.0055;esp6500siv2_ea=0.0072;1000g2015aug_all=0.00299521;avsnp147=rs113595214;Kaviar_AF=0.0056403;Kaviar_AC=872;Kaviar_AN=154602;ExAC_ALL=0.0220;ExAC_AFR=0.0037;ExAC_AMR=0.0291;ExAC_EAS=0;ExAC_FIN=0.0651;ExAC_NFE=0.0261;ExAC_OTH=0.0380;ExAC_SAS=0.0061;CLNALLELEID=99316;CLNDN=Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0101;dpsi_zscore=-0.038;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0069;gnomAD_exome_AFR=0.0012;gnomAD_exome_AMR=0.0053;gnomAD_exome_ASJ=0.0041;gnomAD_exome_EAS=6.931e-05;gnomAD_exome_FIN=0.0140;gnomAD_exome_NFE=0.0094;gnomAD_exome_OTH=0.0136;gnomAD_exome_SAS=0.0012;gnomAD_genome_ALL=0.0089;gnomAD_genome_AFR=0.0011;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0149;gnomAD_genome_NFE=0.0130;gnomAD_genome_OTH=0.0163;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:76:0,53 . . . . . . . . . . . . . . 1:136:0,77 . . . . . . . . . . . . . . . . . . . . . . . . . . 12 2788732 136632;rs199538058 C A 200.00 . #_unique_end_positions=,48;#_unique_start_positions=,51;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0;AF_ESP_clinvar_20171029_hg19=,0.0013;AF_EXAC_clinvar_20171029_hg19=,0.00145;AF_TGP_clinvar_20171029_hg19=,0.0010;ALLELEID_clinvar_20171029_hg19=,140335;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0029;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.28;CAF_dbsnp_common_v150_hg19_refseq=,0.999|0.0009984|.;CLNDISDB_clinvar_20171029_hg19=,MeSH:D008133|MedGen:C0023976|SNOMED_CT:9651007|MedGen:C1142166|Orphanet:ORPHA130|SNOMED_CT:418818005|MedGen:C1832916|OMIM:601005|Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736;CLNDN_clinvar_20171029_hg19=,Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype;CLNHGVS_clinvar_20171029_hg19=,NC_000012.11:g.2788732C>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_conflicting_interpretations;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:139650;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000719.6:c.5214C>A|_NM_001129827.1:c.5358C>A|_NM_001129829.1:c.5337C>A|_NM_001129830.2:c.5214C>A|_NM_001129831.1:c.5298C>A|_NM_001129832.1:c.5274C>A|_NM_001129833.1:c.5271C>A|_NM_001129834.1:c.5271C>A|_NM_001129835.1:c.5271C>A|_NM_001129836.1:c.5265C>A|_NM_001129837.1:c.5238C>A|_NM_001129838.1:c.5238C>A|_NM_001129839.1:c.5232C>A|_NM_001129840.1:c.5214C>A|_NM_001129841.1:c.5214C>A|_NM_001129842.1:c.5214C>A|_NM_001129843.1:c.5214C>A|_NM_001129844.1:c.5205C>A|_NM_001129846.1:c.5181C>A|_NM_001167623.1:c.5214C>A|_NM_001167624.2:c.5214C>A|_NM_001167625.1:c.5181C>A|_NM_199460.3:c.5358C>A;Coding_region_change_in_longest_transcript=,NM_199460.3:c.5358C>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.003;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,115;GENEINFO_dbsnp_common_v150_hg19_refseq=,CACNA1C-AS1:100652846|CACNA1C:775;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:775|GeneID:100652846;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:775;Genotype=,A/C;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:1390|HGNC:HGNC:40119;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:1390;Homo_sapiens_refseq_GRCh37.p13_Genes=,CACNA1C|CACNA1C-AS1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001129839.1|NM_001129837.1|NM_001129838.1|NM_001129846.1|NM_001167623.1|NM_001167625.1|NM_001129840.1|NM_001129833.1|NM_001129842.1|NM_001129829.1|NM_001129834.1|NM_000719.6|NM_001129836.1|NM_001129841.1|NM_001129835.1|NM_001129843.1|NM_001129844.1|NM_001129832.1|NM_001129831.1|NM_001129827.1|NM_001167624.2|NM_001129830.2|NM_199460.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene24765|gene24770;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna35915|rna35914|rna35920|rna35921|rna35903|rna35904|rna35905|rna35909|rna35910|rna35911|rna35912|rna35913|rna35916|rna35917|rna35918|rna35919|rna35922|rna35907|rna35908|rna35906|rna35923|rna35925|rna35924;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:114205;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:114205;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene24765;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,2788732;RS_dbsnp_common_v150_hg19_refseq=,199538058;Read_count=,90;Read_coverage=,192;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9893572228070215;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001129839.1|NM_001129837.1|NM_001129838.1|NM_001129846.1|NM_001167623.1|NM_001167625.1|NM_001129840.1|NM_001129833.1|NM_001129842.1|NM_001129829.1|NM_001129834.1|NM_000719.6|NM_001129836.1|NM_001129841.1|NM_001129835.1|NM_001129843.1|NM_001129844.1|NM_001129832.1|NM_001129831.1|NM_001129827.1|NM_001167624.2|NM_001129830.2|NM_199460.3;Reverse_read_coverage=,77;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0;SF=26;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.999244|0.000755546|.;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050060080305040036100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.837;db_xref=,GeneID:775|HGNC:HGNC:1390|MIM:114205|GeneID:100652846|HGNC:HGNC:40119;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001129839.1|Genbank:NM_001129837.1|Genbank:NM_001129838.1|Genbank:NM_001129846.1|Genbank:NM_001167623.1|Genbank:NM_001167625.1|Genbank:NM_001129840.1|Genbank:NM_001129833.1|Genbank:NM_001129842.1|Genbank:NM_001129829.1|Genbank:NM_001129834.1|Genbank:NM_000719.6|Genbank:NM_001129836.1|Genbank:NM_001129841.1|Genbank:NM_001129835.1|Genbank:NM_001129843.1|Genbank:NM_001129844.1|Genbank:NM_001129832.1|Genbank:NM_001129831.1|Genbank:NM_001129827.1|Genbank:NM_001167624.2|Genbank:NM_001129830.2|Genbank:NM_199460.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,calcium_voltage-gated_channel_subunit_alpha1_C|CACNA1C_antisense_RNA_1;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CACNA1C|CACNA1C-AS1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,CACNA1C;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding|lncRNA;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CACH2|CACN2|CACNL1A1|CaV1.2|CCHL1A1|LQT8|TS;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_13|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_11|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_12|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_20|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_21|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_23|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_14|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_7|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_16|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_3|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_8|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_18|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_10|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_15|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_9|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_17|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_19|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_6|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_5|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_2|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_22|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_4|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_1;transcript_id=,NM_001129839.1|NM_001129837.1|NM_001129838.1|NM_001129846.1|NM_001167623.1|NM_001167625.1|NM_001129840.1|NM_001129833.1|NM_001129842.1|NM_001129829.1|NM_001129834.1|NM_000719.6|NM_001129836.1|NM_001129841.1|NM_001129835.1|NM_001129843.1|NM_001129844.1|NM_001129832.1|NM_001129831.1|NM_001129827.1|NM_001167624.2|NM_001129830.2|NM_199460.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CACNA1C:NM_001129837:exon41:c.C5238A:p.G1746G,CACNA1C:NM_001129838:exon41:c.C5238A:p.G1746G,CACNA1C:NM_001129839:exon41:c.C5232A:p.G1744G,CACNA1C:NM_001129846:exon41:c.C5181A:p.G1727G,CACNA1C:NM_001167625:exon41:c.C5181A:p.G1727G,CACNA1C:NM_000719:exon42:c.C5214A:p.G1738G,CACNA1C:NM_001129829:exon42:c.C5337A:p.G1779G,CACNA1C:NM_001129830:exon42:c.C5214A:p.G1738G,CACNA1C:NM_001129833:exon42:c.C5271A:p.G1757G,CACNA1C:NM_001129834:exon42:c.C5271A:p.G1757G,CACNA1C:NM_001129835:exon42:c.C5271A:p.G1757G,CACNA1C:NM_001129836:exon42:c.C5265A:p.G1755G,CACNA1C:NM_001129840:exon42:c.C5214A:p.G1738G,CACNA1C:NM_001129841:exon42:c.C5214A:p.G1738G,CACNA1C:NM_001129842:exon42:c.C5214A:p.G1738G,CACNA1C:NM_001129843:exon42:c.C5214A:p.G1738G,CACNA1C:NM_001129844:exon42:c.C5205A:p.G1735G,CACNA1C:NM_001167623:exon42:c.C5214A:p.G1738G,CACNA1C:NM_001167624:exon42:c.C5214A:p.G1738G,CACNA1C:NM_001129831:exon43:c.C5298A:p.G1766G,CACNA1C:NM_001129832:exon43:c.C5274A:p.G1758G,CACNA1C:NM_001129827:exon44:c.C5358A:p.G1786G,CACNA1C:NM_199460:exon44:c.C5358A:p.G1786G;cytoBand=12p13.33;genomicSuperDups=.;esp6500siv2_all=0.0013;esp6500siv2_ea=0.0020;esp6500siv2_all=0.0013;esp6500siv2_ea=0.0020;1000g2015aug_all=0.000998403;avsnp147=rs199538058;Kaviar_AF=0.0012548;Kaviar_AC=194;Kaviar_AN=154602;ExAC_ALL=0.0015;ExAC_AFR=0.0001;ExAC_AMR=0.0005;ExAC_EAS=0;ExAC_FIN=0.0003;ExAC_NFE=0.0024;ExAC_OTH=0.0013;ExAC_SAS=0.0002;CLNALLELEID=140335;CLNDN=Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0397;dpsi_zscore=-0.217;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0013;gnomAD_exome_AFR=0.0002;gnomAD_exome_AMR=0.0006;gnomAD_exome_ASJ=0.0072;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0003;gnomAD_exome_NFE=0.0019;gnomAD_exome_OTH=0.0006;gnomAD_exome_SAS=9.779e-05;gnomAD_genome_ALL=0.0011;gnomAD_genome_AFR=0.0003;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0.0132;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0017;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . 1:176:0,84 . . . . . . . . . . . . . . . 12 2788810 136633;rs72552065 C T 200.00 . #_unique_end_positions=,55;#_unique_start_positions=,48;AC=3;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0023;AF_ESP_clinvar_20171029_hg19=,0.0445;AF_EXAC_clinvar_20171029_hg19=,0.04543;AF_TGP_clinvar_20171029_hg19=,0.0194;ALLELEID_clinvar_20171029_hg19=,140336;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0418;AN=3;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.13;CAF_dbsnp_common_v150_hg19_refseq=,0.9806|0.01937;CLNDISDB_clinvar_20171029_hg19=,MeSH:D008133|MedGen:C0023976|SNOMED_CT:9651007|MedGen:C1142166|Orphanet:ORPHA130|SNOMED_CT:418818005|MedGen:C1832916|OMIM:601005|Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736;CLNDN_clinvar_20171029_hg19=,Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype;CLNHGVS_clinvar_20171029_hg19=,NC_000012.11:g.2788810C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:60577;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000719.6:c.5292C>T|_NM_001129827.1:c.5436C>T|_NM_001129829.1:c.5415C>T|_NM_001129830.2:c.5292C>T|_NM_001129831.1:c.5376C>T|_NM_001129832.1:c.5352C>T|_NM_001129833.1:c.5349C>T|_NM_001129834.1:c.5349C>T|_NM_001129835.1:c.5349C>T|_NM_001129836.1:c.5343C>T|_NM_001129837.1:c.5316C>T|_NM_001129838.1:c.5316C>T|_NM_001129839.1:c.5310C>T|_NM_001129840.1:c.5292C>T|_NM_001129841.1:c.5292C>T|_NM_001129842.1:c.5292C>T|_NM_001129843.1:c.5292C>T|_NM_001129844.1:c.5283C>T|_NM_001129846.1:c.5259C>T|_NM_001167623.1:c.5292C>T|_NM_001167624.2:c.5292C>T|_NM_001167625.1:c.5259C>T|_NM_199460.3:c.5436C>T;Coding_region_change_in_longest_transcript=,NM_199460.3:c.5436C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0577;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,93;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,CACNA1C-AS1:100652846|CACNA1C:775;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:775|GeneID:100652846;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:775;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:1390|HGNC:HGNC:40119;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:1390;Homo_sapiens_refseq_GRCh37.p13_Genes=,CACNA1C|CACNA1C-AS1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001129839.1|NM_001129837.1|NM_001129838.1|NM_001129846.1|NM_001167623.1|NM_001167625.1|NM_001129840.1|NM_001129833.1|NM_001129842.1|NM_001129829.1|NM_001129834.1|NM_000719.6|NM_001129836.1|NM_001129841.1|NM_001129835.1|NM_001129843.1|NM_001129844.1|NM_001129832.1|NM_001129831.1|NM_001129827.1|NM_001167624.2|NM_001129830.2|NM_199460.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene24765|gene24770;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna35915|rna35914|rna35920|rna35921|rna35903|rna35904|rna35905|rna35909|rna35910|rna35911|rna35912|rna35913|rna35916|rna35917|rna35918|rna35919|rna35922|rna35907|rna35908|rna35906|rna35923|rna35925|rna35924;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:114205;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:114205;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene24765;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,2788810;RS_dbsnp_common_v150_hg19_refseq=,72552065;Read_count=,88;Read_coverage=,197;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.762063560359638;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001129839.1|NM_001129837.1|NM_001129838.1|NM_001129846.1|NM_001167623.1|NM_001167625.1|NM_001129840.1|NM_001129833.1|NM_001129842.1|NM_001129829.1|NM_001129834.1|NM_000719.6|NM_001129836.1|NM_001129841.1|NM_001129835.1|NM_001129843.1|NM_001129844.1|NM_001129832.1|NM_001129831.1|NM_001129827.1|NM_001167624.2|NM_001129830.2|NM_199460.3;Reverse_read_coverage=,104;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0072;SF=11,20,31;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.961192|0.0388076;TPA_dbsnp_common_v150_hg19_refseq=,TPA;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050178080305150436100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.48;db_xref=,GeneID:775|HGNC:HGNC:1390|MIM:114205|GeneID:100652846|HGNC:HGNC:40119;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001129839.1|Genbank:NM_001129837.1|Genbank:NM_001129838.1|Genbank:NM_001129846.1|Genbank:NM_001167623.1|Genbank:NM_001167625.1|Genbank:NM_001129840.1|Genbank:NM_001129833.1|Genbank:NM_001129842.1|Genbank:NM_001129829.1|Genbank:NM_001129834.1|Genbank:NM_000719.6|Genbank:NM_001129836.1|Genbank:NM_001129841.1|Genbank:NM_001129835.1|Genbank:NM_001129843.1|Genbank:NM_001129844.1|Genbank:NM_001129832.1|Genbank:NM_001129831.1|Genbank:NM_001129827.1|Genbank:NM_001167624.2|Genbank:NM_001129830.2|Genbank:NM_199460.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,calcium_voltage-gated_channel_subunit_alpha1_C|CACNA1C_antisense_RNA_1;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CACNA1C|CACNA1C-AS1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,CACNA1C;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding|lncRNA;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CACH2|CACN2|CACNL1A1|CaV1.2|CCHL1A1|LQT8|TS;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_13|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_11|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_12|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_20|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_21|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_23|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_14|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_7|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_16|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_3|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_8|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_18|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_10|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_15|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_9|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_17|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_19|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_6|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_5|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_2|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_22|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_4|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_1;transcript_id=,NM_001129839.1|NM_001129837.1|NM_001129838.1|NM_001129846.1|NM_001167623.1|NM_001167625.1|NM_001129840.1|NM_001129833.1|NM_001129842.1|NM_001129829.1|NM_001129834.1|NM_000719.6|NM_001129836.1|NM_001129841.1|NM_001129835.1|NM_001129843.1|NM_001129844.1|NM_001129832.1|NM_001129831.1|NM_001129827.1|NM_001167624.2|NM_001129830.2|NM_199460.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CACNA1C:NM_001129837:exon41:c.C5316T:p.N1772N,CACNA1C:NM_001129838:exon41:c.C5316T:p.N1772N,CACNA1C:NM_001129839:exon41:c.C5310T:p.N1770N,CACNA1C:NM_001129846:exon41:c.C5259T:p.N1753N,CACNA1C:NM_001167625:exon41:c.C5259T:p.N1753N,CACNA1C:NM_000719:exon42:c.C5292T:p.N1764N,CACNA1C:NM_001129829:exon42:c.C5415T:p.N1805N,CACNA1C:NM_001129830:exon42:c.C5292T:p.N1764N,CACNA1C:NM_001129833:exon42:c.C5349T:p.N1783N,CACNA1C:NM_001129834:exon42:c.C5349T:p.N1783N,CACNA1C:NM_001129835:exon42:c.C5349T:p.N1783N,CACNA1C:NM_001129836:exon42:c.C5343T:p.N1781N,CACNA1C:NM_001129840:exon42:c.C5292T:p.N1764N,CACNA1C:NM_001129841:exon42:c.C5292T:p.N1764N,CACNA1C:NM_001129842:exon42:c.C5292T:p.N1764N,CACNA1C:NM_001129843:exon42:c.C5292T:p.N1764N,CACNA1C:NM_001129844:exon42:c.C5283T:p.N1761N,CACNA1C:NM_001167623:exon42:c.C5292T:p.N1764N,CACNA1C:NM_001167624:exon42:c.C5292T:p.N1764N,CACNA1C:NM_001129831:exon43:c.C5376T:p.N1792N,CACNA1C:NM_001129832:exon43:c.C5352T:p.N1784N,CACNA1C:NM_001129827:exon44:c.C5436T:p.N1812N,CACNA1C:NM_199460:exon44:c.C5436T:p.N1812N;cytoBand=12p13.33;genomicSuperDups=.;esp6500siv2_all=0.0445;esp6500siv2_ea=0.0613;esp6500siv2_all=0.0445;esp6500siv2_ea=0.0613;1000g2015aug_all=0.019369;avsnp147=rs72552065;Kaviar_AF=0.044579;Kaviar_AC=6892;Kaviar_AN=154602;ExAC_ALL=0.0454;ExAC_AFR=0.0102;ExAC_AMR=0.0229;ExAC_EAS=0.0005;ExAC_FIN=0.0507;ExAC_NFE=0.0675;ExAC_OTH=0.0441;ExAC_SAS=0.0134;CLNALLELEID=140336;CLNDN=Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0393;dpsi_zscore=0.247;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0448;gnomAD_exome_AFR=0.0087;gnomAD_exome_AMR=0.0279;gnomAD_exome_ASJ=0.0944;gnomAD_exome_EAS=0.0003;gnomAD_exome_FIN=0.0500;gnomAD_exome_NFE=0.0646;gnomAD_exome_OTH=0.0572;gnomAD_exome_SAS=0.0132;gnomAD_genome_ALL=0.0443;gnomAD_genome_AFR=0.0100;gnomAD_genome_AMR=0.0215;gnomAD_genome_ASJ=0.0662;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0470;gnomAD_genome_NFE=0.0690;gnomAD_genome_OTH=0.0490;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . . . 1:183:0,80 . . . . . . . . 1:131:0,67 . . . . . . . . . . 1:92:0,42 . . . . . . . . . . 12 2788879 93413;rs1051375 G A 187.85 . #_unique_end_positions=,44;#_unique_start_positions=,38;AC=47;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1717;ALLELEID_clinvar_20171029_hg19=,99320;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6542;AN=47;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.15;CAF_dbsnp_common_v150_hg19_refseq=,0.4736|0.5264;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1142166|Orphanet:ORPHA130|SNOMED_CT:418818005|MedGen:C1832916|OMIM:601005|Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736;CLNDN_clinvar_20171029_hg19=,Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype;CLNHGVS_clinvar_20171029_hg19=,NC_000012.11:g.2788879G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:9580;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000719.6:c.5361G>A|_NM_001129827.1:c.5505G>A|_NM_001129829.1:c.5484G>A|_NM_001129830.2:c.5361G>A|_NM_001129831.1:c.5445G>A|_NM_001129832.1:c.5421G>A|_NM_001129833.1:c.5418G>A|_NM_001129834.1:c.5418G>A|_NM_001129835.1:c.5418G>A|_NM_001129836.1:c.5412G>A|_NM_001129837.1:c.5385G>A|_NM_001129838.1:c.5385G>A|_NM_001129839.1:c.5379G>A|_NM_001129840.1:c.5361G>A|_NM_001129841.1:c.5361G>A|_NM_001129842.1:c.5361G>A|_NM_001129843.1:c.5361G>A|_NM_001129844.1:c.5352G>A|_NM_001129846.1:c.5328G>A|_NM_001167623.1:c.5361G>A|_NM_001167624.2:c.5361G>A|_NM_001167625.1:c.5328G>A|_NM_199460.3:c.5505G>A;Coding_region_change_in_longest_transcript=,NM_199460.3:c.5505G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6062;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7038;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT;Forward_read_coverage=,53;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,CACNA1C-AS1:100652846|CACNA1C:775;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:775|GeneID:100652846;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:775;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:1390|HGNC:HGNC:40119;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:1390;Homo_sapiens_refseq_GRCh37.p13_Genes=,CACNA1C|CACNA1C-AS1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001129839.1|NM_001129837.1|NM_001129838.1|NM_001129846.1|NM_001167623.1|NM_001167625.1|NM_001129840.1|NM_001129833.1|NM_001129842.1|NM_001129829.1|NM_001129834.1|NM_000719.6|NM_001129836.1|NM_001129841.1|NM_001129835.1|NM_001129843.1|NM_001129844.1|NM_001129832.1|NM_001129831.1|NM_001129827.1|NM_001167624.2|NM_001129830.2|NM_199460.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene24765|gene24770;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna35915|rna35914|rna35920|rna35921|rna35903|rna35904|rna35905|rna35909|rna35910|rna35911|rna35912|rna35913|rna35916|rna35917|rna35918|rna35919|rna35922|rna35907|rna35908|rna35906|rna35923|rna35925|rna35924;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:114205;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:114205;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene24765;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,2788879;RS_dbsnp_common_v150_hg19_refseq=,1051375;Read_count=,72;Read_coverage=,136;Read_direction_test_probability=,0.9962210370341361;Read_position_test_probability=,0.8888326358147751;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001129839.1|NM_001129837.1|NM_001129838.1|NM_001129846.1|NM_001167623.1|NM_001167625.1|NM_001129840.1|NM_001129833.1|NM_001129842.1|NM_001129829.1|NM_001129834.1|NM_000719.6|NM_001129836.1|NM_001129841.1|NM_001129835.1|NM_001129843.1|NM_001129844.1|NM_001129832.1|NM_001129831.1|NM_001129827.1|NM_001167624.2|NM_001129830.2|NM_199460.3;Reverse_read_coverage=,83;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6503;SF=0,1,4,5,6,7,8,9,10,11,12,14,15,17,18,19,20,22,24,25,26,27,29,30,31,32,33,34,36,37,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.521052|0.478948;TPA_dbsnp_common_v150_hg19_refseq=,TPA;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050138080305170537000101;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,1;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.933333;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.920455;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.0;db_xref=,GeneID:775|HGNC:HGNC:1390|MIM:114205|GeneID:100652846|HGNC:HGNC:40119;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001129839.1|Genbank:NM_001129837.1|Genbank:NM_001129838.1|Genbank:NM_001129846.1|Genbank:NM_001167623.1|Genbank:NM_001167625.1|Genbank:NM_001129840.1|Genbank:NM_001129833.1|Genbank:NM_001129842.1|Genbank:NM_001129829.1|Genbank:NM_001129834.1|Genbank:NM_000719.6|Genbank:NM_001129836.1|Genbank:NM_001129841.1|Genbank:NM_001129835.1|Genbank:NM_001129843.1|Genbank:NM_001129844.1|Genbank:NM_001129832.1|Genbank:NM_001129831.1|Genbank:NM_001129827.1|Genbank:NM_001167624.2|Genbank:NM_001129830.2|Genbank:NM_199460.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,calcium_voltage-gated_channel_subunit_alpha1_C|CACNA1C_antisense_RNA_1;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CACNA1C|CACNA1C-AS1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,CACNA1C;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding|lncRNA;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CACH2|CACN2|CACNL1A1|CaV1.2|CCHL1A1|LQT8|TS;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_13|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_11|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_12|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_20|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_21|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_23|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_14|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_7|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_16|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_3|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_8|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_18|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_10|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_15|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_9|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_17|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_19|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_6|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_5|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_2|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_22|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_4|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_1;transcript_id=,NM_001129839.1|NM_001129837.1|NM_001129838.1|NM_001129846.1|NM_001167623.1|NM_001167625.1|NM_001129840.1|NM_001129833.1|NM_001129842.1|NM_001129829.1|NM_001129834.1|NM_000719.6|NM_001129836.1|NM_001129841.1|NM_001129835.1|NM_001129843.1|NM_001129844.1|NM_001129832.1|NM_001129831.1|NM_001129827.1|NM_001167624.2|NM_001129830.2|NM_199460.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CACNA1C:NM_001129837:exon41:c.G5385A:p.T1795T,CACNA1C:NM_001129838:exon41:c.G5385A:p.T1795T,CACNA1C:NM_001129839:exon41:c.G5379A:p.T1793T,CACNA1C:NM_001129846:exon41:c.G5328A:p.T1776T,CACNA1C:NM_001167625:exon41:c.G5328A:p.T1776T,CACNA1C:NM_000719:exon42:c.G5361A:p.T1787T,CACNA1C:NM_001129829:exon42:c.G5484A:p.T1828T,CACNA1C:NM_001129830:exon42:c.G5361A:p.T1787T,CACNA1C:NM_001129833:exon42:c.G5418A:p.T1806T,CACNA1C:NM_001129834:exon42:c.G5418A:p.T1806T,CACNA1C:NM_001129835:exon42:c.G5418A:p.T1806T,CACNA1C:NM_001129836:exon42:c.G5412A:p.T1804T,CACNA1C:NM_001129840:exon42:c.G5361A:p.T1787T,CACNA1C:NM_001129841:exon42:c.G5361A:p.T1787T,CACNA1C:NM_001129842:exon42:c.G5361A:p.T1787T,CACNA1C:NM_001129843:exon42:c.G5361A:p.T1787T,CACNA1C:NM_001129844:exon42:c.G5352A:p.T1784T,CACNA1C:NM_001167623:exon42:c.G5361A:p.T1787T,CACNA1C:NM_001167624:exon42:c.G5361A:p.T1787T,CACNA1C:NM_001129831:exon43:c.G5445A:p.T1815T,CACNA1C:NM_001129832:exon43:c.G5421A:p.T1807T,CACNA1C:NM_001129827:exon44:c.G5505A:p.T1835T,CACNA1C:NM_199460:exon44:c.G5505A:p.T1835T;cytoBand=12p13.33;genomicSuperDups=.;esp6500siv2_all=0.5811;esp6500siv2_ea=0.7295;esp6500siv2_all=0.5811;esp6500siv2_ea=0.7295;1000g2015aug_all=0.526358;avsnp147=rs1051375;Kaviar_AF=0.628414;Kaviar_AC=97154;Kaviar_AN=154602;ExAC_ALL=0.6953;ExAC_AFR=0.2792;ExAC_AMR=0.7421;ExAC_EAS=0.6592;ExAC_FIN=0.7857;ExAC_NFE=0.7349;ExAC_OTH=0.7116;ExAC_SAS=0.6798;CLNALLELEID=99320;CLNDN=Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0337;dpsi_zscore=-0.185;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.6777;gnomAD_exome_AFR=0.2338;gnomAD_exome_AMR=0.7052;gnomAD_exome_ASJ=0.6642;gnomAD_exome_EAS=0.6223;gnomAD_exome_FIN=0.7618;gnomAD_exome_NFE=0.7229;gnomAD_exome_OTH=0.6807;gnomAD_exome_SAS=0.6643;gnomAD_genome_ALL=0.5917;gnomAD_genome_AFR=0.2333;gnomAD_genome_AMR=0.6897;gnomAD_genome_ASJ=0.6589;gnomAD_genome_EAS=0.6258;gnomAD_genome_FIN=0.7738;gnomAD_genome_NFE=0.7396;gnomAD_genome_OTH=0.7072;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:118:0,62 1:210:0,97 . . 1/1:128:0,128 1:178:0,73 1:128:0,60 1/1:145:0,145 1:168:0,81 1:186:0,75 1:194:0,94 1/1:181:0,181 1/1:215:0,215 . 1:273:0,119 1/1:175:0,175 . 1:176:0,92 1/1:162:0,162 1:144:0,60 1/1:111:0,111 . 1/1:261:0,261 . 1/1:222:0,222 1/1:142:0,142 1/1:180:0,180 1/1:207:0,207 . 1/1:226:0,226 1:180:0,77 1/1:93:0,93 1/1:170:0,170 1:146:0,77 1/1:179:0,179 . 1:131:0,58 1:127:0,42 . . . 1:163:0,73 12 2791130 136638;rs10848683 C T 115.63 . #_unique_end_positions=,10;#_unique_start_positions=,10;AC=65;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4622;ALLELEID_clinvar_20171029_hg19=,140341;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7248;AN=65;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001123302.2:p.Pro1820Leu|_NP_955630.3:p.Pro1868Leu|_NP_001161096.2:p.Pro1820Leu;Amino_acid_change_in_longest_transcript=,NP_955630.3:p.Pro1868Leu;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.3309|0.6691;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000012.11:g.2791130C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000719.6:c.5445-586C>T|_NM_001129827.1:c.5589-586C>T|_NM_001129829.1:c.5568-586C>T|_NM_001129830.2:c.5459C>T|_NM_001129831.1:c.5529-586C>T|_NM_001129832.1:c.5505-586C>T|_NM_001129833.1:c.5502-586C>T|_NM_001129834.1:c.5502-586C>T|_NM_001129835.1:c.5502-586C>T|_NM_001129836.1:c.5496-586C>T|_NM_001129837.1:c.5469-586C>T|_NM_001129838.1:c.5469-586C>T|_NM_001129839.1:c.5463-586C>T|_NM_001129840.1:c.5445-586C>T|_NM_001129841.1:c.5445-586C>T|_NM_001129842.1:c.5445-586C>T|_NM_001129843.1:c.5445-586C>T|_NM_001129844.1:c.5436-586C>T|_NM_001129846.1:c.5412-586C>T|_NM_001167623.1:c.5445-586C>T|_NM_001167624.2:c.5459C>T|_NM_001167625.1:c.5625-586C>T|_NM_199460.3:c.5603C>T;Coding_region_change_in_longest_transcript=,NM_199460.3:c.5603C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5744;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.8191;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,15;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,CACNA1C-AS1:100652846|CACNA1C:775;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:775|GeneID:100652846;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:775;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:1390|HGNC:HGNC:40119;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:1390;Homo_sapiens_refseq_GRCh37.p13_Genes=,CACNA1C|CACNA1C-AS1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001167624.2|NM_001129830.2|NM_199460.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene24765|gene24770;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna35923|rna35925|rna35924;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant|SO:0001627|intron_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:114205;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:114205;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,Yes;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene24765;QUAL=,78.54440206198169;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,2791130;RS_dbsnp_common_v150_hg19_refseq=,10848683;Read_count=,12;Read_coverage=,27;Read_direction_test_probability=,0.9954499434543522;Read_position_test_probability=,0.6263788610187544;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001167624.2|NM_001129830.2|NM_199460.3;Reverse_read_coverage=,12;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.8528;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,29,30,31,32,33,34,36,37,38,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.358575|0.641425;TPA_dbsnp_common_v150_hg19_refseq=,TPA;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050138080a0517053f000101;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.520833;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.787611;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.609756;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.658824;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.875;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.581395;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.517442;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.344444;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.79;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.391608;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.806818;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.49115;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.007;db_xref=,GeneID:775|HGNC:HGNC:1390|MIM:114205|GeneID:100652846|HGNC:HGNC:40119;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001167624.2|Genbank:NM_001129830.2|Genbank:NM_199460.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,calcium_voltage-gated_channel_subunit_alpha1_C|CACNA1C_antisense_RNA_1;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CACNA1C|CACNA1C-AS1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,CACNA1C;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding|lncRNA;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CACH2|CACN2|CACNL1A1|CaV1.2|CCHL1A1|LQT8|TS;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_22|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_4|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_1;transcript_id=,NM_001167624.2|NM_001129830.2|NM_199460.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CACNA1C:NM_001129830:exon43:c.C5459T:p.P1820L,CACNA1C:NM_001167624:exon43:c.C5459T:p.P1820L,CACNA1C:NM_199460:exon45:c.C5603T:p.P1868L;cytoBand=12p13.33;genomicSuperDups=Score\x3d0.900997\x3bName\x3dchr12:2846718;esp6500siv2_all=0.7248;esp6500siv2_ea=0.8213;esp6500siv2_all=0.7248;esp6500siv2_ea=0.8213;1000g2015aug_all=0.669129;avsnp147=rs10848683;Kaviar_AF=0.726103;Kaviar_AC=112257;Kaviar_AN=154602;ExAC_ALL=0.7722;ExAC_AFR=0.4883;ExAC_AMR=0.7756;ExAC_EAS=0.5925;ExAC_FIN=0.8493;ExAC_NFE=0.8109;ExAC_OTH=0.8133;ExAC_SAS=0.8421;CLNALLELEID=140341;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.243;SIFT_pred=T;Polyphen2_HDIV_score=0.002;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=1.87;MutationAssessor_pred=L;FATHMM_score=-3.54;FATHMM_pred=D;PROVEAN_score=-1.64;PROVEAN_pred=N;VEST3_score=0.042;CADD_raw=0.086;CADD_phred=3.459;DANN_score=0.538;fathmm-MKL_coding_score=0.000;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.945;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.581;integrated_confidence_value=0;GERP++_RS=1.64;phyloP7way_vertebrate=-1.731;phyloP20way_mammalian=-0.566;phastCons7way_vertebrate=0.001;phastCons20way_mammalian=0.000;SiPhy_29way_logOdds=2.422;GDI_full_10282015=.;dpsi_max_tissue=-2.8141;dpsi_zscore=-2.111;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.7779;gnomAD_exome_AFR=0.4837;gnomAD_exome_AMR=0.7678;gnomAD_exome_ASJ=0.8152;gnomAD_exome_EAS=0.5892;gnomAD_exome_FIN=0.8501;gnomAD_exome_NFE=0.8133;gnomAD_exome_OTH=0.7938;gnomAD_exome_SAS=0.8453;gnomAD_genome_ALL=0.7168;gnomAD_genome_AFR=0.4877;gnomAD_genome_AMR=0.7464;gnomAD_genome_ASJ=0.8245;gnomAD_genome_EAS=0.5950;gnomAD_genome_FIN=0.8614;gnomAD_genome_NFE=0.8199;gnomAD_genome_OTH=0.8004;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:22:0,10 1:34:0,16 1:30:0,11 1:37:0,16 1/1:27:0,27 1/1:32:0,32 1:29:0,11 1/1:39:0,39 1/1:34:0,34 1:28:0,15 1/1:27:0,27 1/1:36:0,36 1/1:27:0,27 1:43:0,17 1:65:0,36 1/1:40:0,40 1:38:0,12 1/1:29:0,29 1/1:31:0,31 1/1:24:0,24 1/1:24:0,24 1/1:30:0,30 1/1:38:0,38 1:55:0,24 1/1:32:0,32 1/1:25:0,25 1/1:29:0,29 1/1:34:0,34 . 1/1:43:0,43 1/1:46:0,46 1/1:20:0,20 1/1:31:0,31 1:27:0,16 1/1:33:0,33 . 1:33:0,10 1:30:0,12 1:32:0,17 1:40:0,12 1/1:32:0,32 1/1:24:0,24 12 2791132 136639;rs10774053 A G 120.69 . #_unique_end_positions=,10;#_unique_start_positions=,10;AC=66;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7844;ALLELEID_clinvar_20171029_hg19=,140342;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7651;AN=66;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001123302.2:p.Met1821Val|_NP_955630.3:p.Met1869Val|_NP_001161096.2:p.Met1821Val;Amino_acid_change_in_longest_transcript=,NP_955630.3:p.Met1869Val;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.2294|.|0.7706;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000012.11:g.2791132A>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000719.6:c.5445-584A>G|_NM_001129827.1:c.5589-584A>G|_NM_001129829.1:c.5568-584A>G|_NM_001129830.2:c.5461A>G|_NM_001129831.1:c.5529-584A>G|_NM_001129832.1:c.5505-584A>G|_NM_001129833.1:c.5502-584A>G|_NM_001129834.1:c.5502-584A>G|_NM_001129835.1:c.5502-584A>G|_NM_001129836.1:c.5496-584A>G|_NM_001129837.1:c.5469-584A>G|_NM_001129838.1:c.5469-584A>G|_NM_001129839.1:c.5463-584A>G|_NM_001129840.1:c.5445-584A>G|_NM_001129841.1:c.5445-584A>G|_NM_001129842.1:c.5445-584A>G|_NM_001129843.1:c.5445-584A>G|_NM_001129844.1:c.5436-584A>G|_NM_001129846.1:c.5412-584A>G|_NM_001167623.1:c.5445-584A>G|_NM_001167624.2:c.5461A>G|_NM_001167625.1:c.5625-584A>G|_NM_199460.3:c.5605A>G;Coding_region_change_in_longest_transcript=,NM_199460.3:c.5605A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6081;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.83;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,15;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,CACNA1C-AS1:100652846|CACNA1C:775;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:775|GeneID:100652846;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:775;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:1390|HGNC:HGNC:40119;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:1390;Homo_sapiens_refseq_GRCh37.p13_Genes=,CACNA1C|CACNA1C-AS1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001167624.2|NM_001129830.2|NM_199460.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene24765|gene24770;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna35923|rna35925|rna35924;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant|SO:0001627|intron_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:114205;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:114205;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,Yes;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene24765;QUAL=,79.95844328676642;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,2791132;RS_dbsnp_common_v150_hg19_refseq=,10774053;Read_count=,12;Read_coverage=,28;Read_direction_test_probability=,0.9999802633526649;Read_position_test_probability=,0.9321242599901918;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001167624.2|NM_001129830.2|NM_199460.3;Reverse_read_coverage=,13;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.862;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,29,30,31,32,33,34,36,37,38,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.218181|.|0.781819;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128080a0515053e000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.0;db_xref=,GeneID:775|HGNC:HGNC:1390|MIM:114205|GeneID:100652846|HGNC:HGNC:40119;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001167624.2|Genbank:NM_001129830.2|Genbank:NM_199460.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,calcium_voltage-gated_channel_subunit_alpha1_C|CACNA1C_antisense_RNA_1;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CACNA1C|CACNA1C-AS1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,CACNA1C;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding|lncRNA;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CACH2|CACN2|CACNL1A1|CaV1.2|CCHL1A1|LQT8|TS;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_22|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_4|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_1;transcript_id=,NM_001167624.2|NM_001129830.2|NM_199460.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CACNA1C:NM_001129830:exon43:c.A5461G:p.M1821V,CACNA1C:NM_001167624:exon43:c.A5461G:p.M1821V,CACNA1C:NM_199460:exon45:c.A5605G:p.M1869V;cytoBand=12p13.33;genomicSuperDups=Score\x3d0.900997\x3bName\x3dchr12:2846718;esp6500siv2_all=0.8196;esp6500siv2_ea=0.8310;esp6500siv2_all=0.8196;esp6500siv2_ea=0.8310;1000g2015aug_all=0.770567;avsnp147=rs10774053;Kaviar_AF=0.0007827;Kaviar_AC=121;Kaviar_AN=154602;ExAC_ALL=0.8068;ExAC_AFR=0.7855;ExAC_AMR=0.7945;ExAC_EAS=0.6216;ExAC_FIN=0.8511;ExAC_NFE=0.8198;ExAC_OTH=0.84;ExAC_SAS=0.8530;CLNALLELEID=140342;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.594;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.345;MutationAssessor_pred=N;FATHMM_score=-3.57;FATHMM_pred=D;PROVEAN_score=0.16;PROVEAN_pred=N;VEST3_score=0.01;CADD_raw=0.106;CADD_phred=3.674;DANN_score=0.403;fathmm-MKL_coding_score=0.000;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.971;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.581;integrated_confidence_value=0;GERP++_RS=0.908;phyloP7way_vertebrate=-0.271;phyloP20way_mammalian=-0.616;phastCons7way_vertebrate=0.004;phastCons20way_mammalian=0.000;SiPhy_29way_logOdds=5.480;GDI_full_10282015=.;dpsi_max_tissue=-1.6268;dpsi_zscore=-1.768;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.8080;gnomAD_exome_AFR=0.7822;gnomAD_exome_AMR=0.7880;gnomAD_exome_ASJ=0.8367;gnomAD_exome_EAS=0.6207;gnomAD_exome_FIN=0.8519;gnomAD_exome_NFE=0.8219;gnomAD_exome_OTH=0.8158;gnomAD_exome_SAS=0.8552;gnomAD_genome_ALL=0.8032;gnomAD_genome_AFR=0.7696;gnomAD_genome_AMR=0.7835;gnomAD_genome_ASJ=0.8411;gnomAD_genome_EAS=0.6238;gnomAD_genome_FIN=0.8623;gnomAD_genome_NFE=0.8270;gnomAD_genome_OTH=0.8275;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:22:0,10 1:34:0,16 1/1:32:0,32 1:39:0,16 1/1:29:0,29 1/1:34:0,34 1:29:0,11 1/1:38:0,38 1/1:35:0,35 1:28:0,15 1/1:31:0,31 1/1:37:0,37 1/1:32:0,32 1:43:0,17 1:68:0,38 1/1:44:0,44 1:40:0,12 1/1:31:0,31 1/1:34:0,34 1/1:28:0,28 1/1:25:0,25 1/1:31:0,31 1/1:42:0,42 1:55:0,24 1/1:38:0,38 1/1:25:0,25 1/1:31:0,31 1/1:37:0,37 . 1/1:46:0,46 1/1:47:0,47 1/1:22:0,22 1/1:33:0,33 1:29:0,17 1/1:38:0,38 . 1:34:0,10 1:30:0,12 1:35:0,21 1:40:0,12 1/1:34:0,34 1/1:26:0,26 12 2791205 136640;rs10774054 A G 156.33 . #_unique_end_positions=,25;#_unique_start_positions=,25;AC=84;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,1;ALLELEID_clinvar_20171029_hg19=,140343;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,1;AN=84;Amino_acid_change=,NP_001123302.2:p.Lys1845Arg|_NP_955630.3:p.Lys1893Arg|_NP_001161096.2:p.Lys1845Arg;Amino_acid_change_in_longest_transcript=,NP_955630.3:p.Lys1893Arg;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000012.11:g.2791205A>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;Coding_region_change=,NM_000719.6:c.5445-511A>G|_NM_001129827.1:c.5589-511A>G|_NM_001129829.1:c.5568-511A>G|_NM_001129830.2:c.5534A>G|_NM_001129831.1:c.5529-511A>G|_NM_001129832.1:c.5505-511A>G|_NM_001129833.1:c.5502-511A>G|_NM_001129834.1:c.5502-511A>G|_NM_001129835.1:c.5502-511A>G|_NM_001129836.1:c.5496-511A>G|_NM_001129837.1:c.5469-511A>G|_NM_001129838.1:c.5469-511A>G|_NM_001129839.1:c.5463-511A>G|_NM_001129840.1:c.5445-511A>G|_NM_001129841.1:c.5445-511A>G|_NM_001129842.1:c.5445-511A>G|_NM_001129843.1:c.5445-511A>G|_NM_001129844.1:c.5436-511A>G|_NM_001129846.1:c.5412-511A>G|_NM_001167623.1:c.5445-511A>G|_NM_001167624.2:c.5534A>G|_NM_001167625.1:c.5625-511A>G|_NM_199460.3:c.5678A>G;Coding_region_change_in_longest_transcript=,NM_199460.3:c.5678A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,1;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,1;Exact_match=,clinvar_20171029_hg19|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,14;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:775|GeneID:100652846;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:775;Genotype=,G/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:1390|HGNC:HGNC:40119;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:1390;Homo_sapiens_refseq_GRCh37.p13_Genes=,CACNA1C|CACNA1C-AS1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001167624.2|NM_001129830.2|NM_199460.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene24765|gene24770;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna35923|rna35925|rna35924;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant|SO:0001627|intron_variant|SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:114205;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:114205;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene24765;QUAL=,116.05370541197115;Read_count=,30;Read_coverage=,30;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001167624.2|NM_001129830.2|NM_199460.3;Reverse_read_coverage=,16;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,1;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,1;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,1;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,1;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,1;conservation_score=,0.0;db_xref=,GeneID:775|HGNC:HGNC:1390|MIM:114205|GeneID:100652846|HGNC:HGNC:40119;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001167624.2|Genbank:NM_001129830.2|Genbank:NM_199460.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,calcium_voltage-gated_channel_subunit_alpha1_C|CACNA1C_antisense_RNA_1;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CACNA1C|CACNA1C-AS1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,CACNA1C;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding|lncRNA;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CACH2|CACN2|CACNL1A1|CaV1.2|CCHL1A1|LQT8|TS;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_22|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_4|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_1;transcript_id=,NM_001167624.2|NM_001129830.2|NM_199460.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CACNA1C:NM_001129830:exon43:c.A5534G:p.K1845R,CACNA1C:NM_001167624:exon43:c.A5534G:p.K1845R,CACNA1C:NM_199460:exon45:c.A5678G:p.K1893R;cytoBand=12p13.33;genomicSuperDups=Score\x3d0.900997\x3bName\x3dchr12:2846718;esp6500siv2_all=0.9998;esp6500siv2_ea=1;esp6500siv2_all=0.9998;esp6500siv2_ea=1;1000g2015aug_all=1;avsnp147=rs10774054;Kaviar_AF=0.928746;Kaviar_AC=143586;Kaviar_AN=154602;ExAC_ALL=0.9999;ExAC_AFR=0.9988;ExAC_AMR=1;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=1;ExAC_OTH=1;ExAC_SAS=1;CLNALLELEID=140343;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.4157;dpsi_zscore=-1.680;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.9999;gnomAD_exome_AFR=0.9988;gnomAD_exome_AMR=1;gnomAD_exome_ASJ=1;gnomAD_exome_EAS=1;gnomAD_exome_FIN=1;gnomAD_exome_NFE=1;gnomAD_exome_OTH=1;gnomAD_exome_SAS=1;gnomAD_genome_ALL=0.9995;gnomAD_genome_AFR=0.9984;gnomAD_genome_AMR=1;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=1;gnomAD_genome_FIN=1;gnomAD_genome_NFE=1;gnomAD_genome_OTH=1;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1/1:29:0,29 1/1:44:0,44 1/1:30:0,30 1/1:39:0,39 1/1:30:0,30 1/1:48:0,48 1/1:35:0,35 1/1:35:0,35 1/1:39:0,39 1/1:42:0,42 1/1:37:0,37 1/1:32:0,32 1/1:46:0,46 1/1:44:0,44 1/1:80:0,80 1/1:48:0,48 1/1:44:0,44 1/1:38:0,38 1/1:34:0,34 1/1:30:0,30 1/1:29:0,29 1/1:36:0,36 1/1:49:0,49 1/1:65:0,65 1/1:45:0,45 1/1:34:0,34 1/1:33:0,33 1/1:40:0,40 1/1:67:0,67 1/1:44:0,44 1/1:46:0,46 1/1:26:0,26 1/1:36:0,36 1/1:41:0,41 1/1:54:0,54 1/1:48:0,48 1/1:45:0,45 1/1:33:0,33 1/1:46:0,46 1/1:51:0,51 1/1:49:0,49 1/1:24:0,24 12 2800220 216482;rs201090446 A G 200.00 . #_unique_end_positions=,58;#_unique_start_positions=,49;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0;AF_ESP_clinvar_20171029_hg19=,0.0006;AF_EXAC_clinvar_20171029_hg19=,0.00079;AF_TGP_clinvar_20171029_hg19=,0.0002;ALLELEID_clinvar_20171029_hg19=,212999;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0;AN=1;Amino_acid_change=,NP_001123315.1:p.Asn2091Ser|_NP_001123306.1:p.Asn2110Ser|_NP_001123313.1:p.Asn2091Ser|_NP_001161095.1:p.Asn2091Ser|_NP_001161096.2:p.Asn2126Ser|_NP_001123301.1:p.Asn2132Ser|_NP_001123311.1:p.Asn2097Ser|_NP_001123312.1:p.Asn2091Ser|_NP_001123314.1:p.Asn2091Ser|_NP_000710.5:p.Asn2091Ser|_NP_001123316.1:p.Asn2088Ser|_NP_001123309.1:p.Asn2099Ser|_NP_001123310.1:p.Asn2099Ser|_NP_001123304.1:p.Asn2111Ser|_NP_001123305.1:p.Asn2110Ser|_NP_001123299.1:p.Asn2139Ser|_NP_001123308.1:p.Asn2108Ser|_NP_001123307.1:p.Asn2110Ser|_NP_001123302.2:p.Asn2126Ser|_NP_001123318.1:p.Asn2080Ser|_NP_955630.3:p.Asn2174Ser|_NP_001161097.1:p.Asn2151Ser|_NP_001123303.1:p.Asn2119Ser;Amino_acid_change_in_longest_transcript=,NP_955630.3:p.Asn2174Ser;BaseQRankSum=,0.94;CLNDISDB_clinvar_20171029_hg19=,MeSH:D008133|MedGen:C0023976|SNOMED_CT:9651007|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Long_QT_syndrome|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000012.11:g.2800220A>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_conflicting_interpretations;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;Coding_region_change=,NM_000719.6:c.6272A>G|_NM_001129827.1:c.6416A>G|_NM_001129829.1:c.6395A>G|_NM_001129830.2:c.6377A>G|_NM_001129831.1:c.6356A>G|_NM_001129832.1:c.6332A>G|_NM_001129833.1:c.6329A>G|_NM_001129834.1:c.6329A>G|_NM_001129835.1:c.6329A>G|_NM_001129836.1:c.6323A>G|_NM_001129837.1:c.6296A>G|_NM_001129838.1:c.6296A>G|_NM_001129839.1:c.6290A>G|_NM_001129840.1:c.6272A>G|_NM_001129841.1:c.6272A>G|_NM_001129842.1:c.6272A>G|_NM_001129843.1:c.6272A>G|_NM_001129844.1:c.6263A>G|_NM_001129846.1:c.6239A>G|_NM_001167623.1:c.6272A>G|_NM_001167624.2:c.6377A>G|_NM_001167625.1:c.6452A>G|_NM_199460.3:c.6521A>G;Coding_region_change_in_longest_transcript=,NM_199460.3:c.6521A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0;Exact_match=,clinvar_20171029_hg19|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,143;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:775|GeneID:100652846;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:775;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:1390|HGNC:HGNC:40119;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:1390;Homo_sapiens_refseq_GRCh37.p13_Genes=,CACNA1C|CACNA1C-AS1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001129839.1|NM_001129837.1|NM_001129838.1|NM_001129846.1|NM_001167623.1|NM_001167625.1|NM_001129840.1|NM_001129833.1|NM_001129842.1|NM_001129829.1|NM_001129834.1|NM_000719.6|NM_001129836.1|NM_001129841.1|NM_001129835.1|NM_001129843.1|NM_001129844.1|NM_001129832.1|NM_001129831.1|NM_001129827.1|NM_001167624.2|NM_001129830.2|NM_199460.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene24765|gene24770;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna35915|rna35914|rna35920|rna35921|rna35903|rna35904|rna35905|rna35909|rna35910|rna35911|rna35912|rna35913|rna35916|rna35917|rna35918|rna35919|rna35922|rna35907|rna35908|rna35906|rna35923|rna35925|rna35924;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:114205;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:114205;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene24765;QUAL=,200.0;Read_count=,135;Read_coverage=,297;Read_direction_test_probability=,0.9916798583024368;Read_position_test_probability=,0.8881915423890754;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001129839.1|NM_001129837.1|NM_001129838.1|NM_001129846.1|NM_001167623.1|NM_001167625.1|NM_001129840.1|NM_001129833.1|NM_001129842.1|NM_001129829.1|NM_001129834.1|NM_000719.6|NM_001129836.1|NM_001129841.1|NM_001129835.1|NM_001129843.1|NM_001129844.1|NM_001129832.1|NM_001129831.1|NM_001129827.1|NM_001167624.2|NM_001129830.2|NM_199460.3;Reverse_read_coverage=,154;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.001;SF=28;conservation_score=,1.0;db_xref=,GeneID:775|HGNC:HGNC:1390|MIM:114205|GeneID:100652846|HGNC:HGNC:40119;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001129839.1|Genbank:NM_001129837.1|Genbank:NM_001129838.1|Genbank:NM_001129846.1|Genbank:NM_001167623.1|Genbank:NM_001167625.1|Genbank:NM_001129840.1|Genbank:NM_001129833.1|Genbank:NM_001129842.1|Genbank:NM_001129829.1|Genbank:NM_001129834.1|Genbank:NM_000719.6|Genbank:NM_001129836.1|Genbank:NM_001129841.1|Genbank:NM_001129835.1|Genbank:NM_001129843.1|Genbank:NM_001129844.1|Genbank:NM_001129832.1|Genbank:NM_001129831.1|Genbank:NM_001129827.1|Genbank:NM_001167624.2|Genbank:NM_001129830.2|Genbank:NM_199460.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,calcium_voltage-gated_channel_subunit_alpha1_C|CACNA1C_antisense_RNA_1;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CACNA1C|CACNA1C-AS1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,CACNA1C;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding|lncRNA;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CACH2|CACN2|CACNL1A1|CaV1.2|CCHL1A1|LQT8|TS;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_13|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_11|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_12|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_20|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_21|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_23|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_14|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_7|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_16|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_3|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_8|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_18|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_10|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_15|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_9|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_17|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_19|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_6|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_5|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_2|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_22|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_4|calcium_voltage-gated_channel_subunit_alpha1_C|_transcript_variant_1;transcript_id=,NM_001129839.1|NM_001129837.1|NM_001129838.1|NM_001129846.1|NM_001167623.1|NM_001167625.1|NM_001129840.1|NM_001129833.1|NM_001129842.1|NM_001129829.1|NM_001129834.1|NM_000719.6|NM_001129836.1|NM_001129841.1|NM_001129835.1|NM_001129843.1|NM_001129844.1|NM_001129832.1|NM_001129831.1|NM_001129827.1|NM_001167624.2|NM_001129830.2|NM_199460.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CACNA1C:NM_001129837:exon46:c.A6296G:p.N2099S,CACNA1C:NM_001129838:exon46:c.A6296G:p.N2099S,CACNA1C:NM_001129839:exon46:c.A6290G:p.N2097S,CACNA1C:NM_001129846:exon46:c.A6239G:p.N2080S,CACNA1C:NM_000719:exon47:c.A6272G:p.N2091S,CACNA1C:NM_001129829:exon47:c.A6395G:p.N2132S,CACNA1C:NM_001129833:exon47:c.A6329G:p.N2110S,CACNA1C:NM_001129834:exon47:c.A6329G:p.N2110S,CACNA1C:NM_001129835:exon47:c.A6329G:p.N2110S,CACNA1C:NM_001129836:exon47:c.A6323G:p.N2108S,CACNA1C:NM_001129840:exon47:c.A6272G:p.N2091S,CACNA1C:NM_001129841:exon47:c.A6272G:p.N2091S,CACNA1C:NM_001129842:exon47:c.A6272G:p.N2091S,CACNA1C:NM_001129843:exon47:c.A6272G:p.N2091S,CACNA1C:NM_001129844:exon47:c.A6263G:p.N2088S,CACNA1C:NM_001167623:exon47:c.A6272G:p.N2091S,CACNA1C:NM_001167625:exon47:c.A6452G:p.N2151S,CACNA1C:NM_001129830:exon48:c.A6377G:p.N2126S,CACNA1C:NM_001129831:exon48:c.A6356G:p.N2119S,CACNA1C:NM_001129832:exon48:c.A6332G:p.N2111S,CACNA1C:NM_001167624:exon48:c.A6377G:p.N2126S,CACNA1C:NM_001129827:exon49:c.A6416G:p.N2139S,CACNA1C:NM_199460:exon50:c.A6521G:p.N2174S;cytoBand=12p13.33;genomicSuperDups=.;esp6500siv2_all=0.0006;esp6500siv2_ea=0.0006;esp6500siv2_all=0.0006;esp6500siv2_ea=0.0006;1000g2015aug_all=0.000199681;avsnp147=rs201090446;Kaviar_AF=0.0005239;Kaviar_AC=81;Kaviar_AN=154602;ExAC_ALL=0.0008;ExAC_AFR=0.0008;ExAC_AMR=0.0002;ExAC_EAS=0.0015;ExAC_FIN=0;ExAC_NFE=0.0009;ExAC_OTH=0.0038;ExAC_SAS=0.0004;CLNALLELEID=212999;CLNDN=Long_QT_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.03;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.994;Polyphen2_HVAR_pred=D;LRT_score=0.009;LRT_pred=N;MutationTaster_score=0.995;MutationTaster_pred=N;MutationAssessor_score=2.085;MutationAssessor_pred=M;FATHMM_score=0.41;FATHMM_pred=T;PROVEAN_score=-2.89;PROVEAN_pred=D;VEST3_score=0.103;CADD_raw=1.910;CADD_phred=15.65;DANN_score=0.998;fathmm-MKL_coding_score=0.911;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.668;MetaSVM_pred=T;MetaLR_score=0.310;MetaLR_pred=T;integrated_fitCons_score=0.496;integrated_confidence_value=0;GERP++_RS=4.49;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.121;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=14.234;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM166473#"Sudden_unexplained_death";gnomAD_exome_ALL=0.0005;gnomAD_exome_AFR=0.0006;gnomAD_exome_AMR=0.0002;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0.0007;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0007;gnomAD_exome_OTH=0.0012;gnomAD_exome_SAS=0.0004;gnomAD_genome_ALL=0.0005;gnomAD_genome_AFR=0.0006;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0006;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:266:0,117 . . . . . . . . . . . . . 12 5153455 . G A 200.00 . #_unique_end_positions=,80;#_unique_start_positions=,72;AC=1;AN=1;Amino_acid_change=,NP_002225.2:p.Glu48Lys;Amino_acid_change_in_longest_transcript=,NP_002225.2:p.Glu48Lys;BaseQRankSum=,-0.41;Coding_region_change=,NM_002234.3:c.142G>A;Coding_region_change_in_longest_transcript=,NM_002234.3:c.142G>A;Forward_read_coverage=,302;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:3741;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:3741;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:6224;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:6224;Homo_sapiens_refseq_GRCh37.p13_Genes=,KCNA5;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_002234.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene24816;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna35992;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:176267;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:176267;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene24816;QUAL=,200.0;Read_count=,181;Read_coverage=,378;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9679937116645448;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_002234.3;Reverse_read_coverage=,76;SF=15;conservation_score=,0.002;db_xref=,GeneID:3741|HGNC:HGNC:6224|MIM:176267;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:08888;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_002234.3|HPRD:08888;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,potassium_voltage-gated_channel_subfamily_A_member_5;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,KCNA5;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,KCNA5;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ATFB7|HCK1|HK2|HPCN1|KV1.5|PCN1;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,potassium_voltage-gated_channel_subfamily_A_member_5;transcript_id=,NM_002234.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KCNA5;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=KCNA5:NM_002234:exon1:c.G142A:p.E48K;cytoBand=12p13.32;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.005;SIFT_pred=D;Polyphen2_HDIV_score=0.22;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.039;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0.805;MutationAssessor_pred=L;FATHMM_score=-4.4;FATHMM_pred=D;PROVEAN_score=-0.14;PROVEAN_pred=N;VEST3_score=0.149;CADD_raw=2.438;CADD_phred=19.07;DANN_score=0.994;fathmm-MKL_coding_score=0.290;fathmm-MKL_coding_pred=N;MetaSVM_score=0.159;MetaSVM_pred=D;MetaLR_score=0.801;MetaLR_pred=D;integrated_fitCons_score=0.437;integrated_confidence_value=0;GERP++_RS=2.75;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.938;phastCons7way_vertebrate=0.107;phastCons20way_mammalian=0.032;SiPhy_29way_logOdds=8.079;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=7.06e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=4.06e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=7 GT:DP:CLCAD2 . . . . . . . . . . . . . . . 1:360:0,172 . . . . . . . . . . . . . . . . . . . . . . . . . . 12 5153573 rs71537801 G A 200.00 . #_unique_end_positions=,78;#_unique_start_positions=,80;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0;AN=1;Amino_acid_change=,NP_002225.2:p.Arg87Gln;Amino_acid_change_in_longest_transcript=,NP_002225.2:p.Arg87Gln;BaseQRankSum=,-0.89;Coding_region_change=,NM_002234.3:c.260G>A;Coding_region_change_in_longest_transcript=,NM_002234.3:c.260G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.001;Exact_match=,1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,200;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:3741;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:3741;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:6224;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:6224;Homo_sapiens_refseq_GRCh37.p13_Genes=,KCNA5;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_002234.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene24816;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna35992;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:176267;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:176267;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene24816;QUAL=,200.0;Read_count=,214;Read_coverage=,424;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.6788978314032256;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_002234.3;Reverse_read_coverage=,224;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0;SF=40;conservation_score=,0.001;db_xref=,GeneID:3741|HGNC:HGNC:6224|MIM:176267;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:08888;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_002234.3|HPRD:08888;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,potassium_voltage-gated_channel_subfamily_A_member_5;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,KCNA5;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,KCNA5;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ATFB7|HCK1|HK2|HPCN1|KV1.5|PCN1;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,potassium_voltage-gated_channel_subfamily_A_member_5;transcript_id=,NM_002234.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KCNA5;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=KCNA5:NM_002234:exon1:c.G260A:p.R87Q;cytoBand=12p13.32;genomicSuperDups=.;esp6500siv2_all=0.0004;esp6500siv2_ea=0.0006;esp6500siv2_all=0.0004;esp6500siv2_ea=0.0006;1000g2015aug_all=0.000199681;avsnp147=rs71537801;Kaviar_AF=0.0002781;Kaviar_AC=43;Kaviar_AN=154602;ExAC_ALL=0.0006;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0010;ExAC_OTH=0.0031;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=-4.33;FATHMM_pred=D;PROVEAN_score=0.26;PROVEAN_pred=N;VEST3_score=0.139;CADD_raw=-0.949;CADD_phred=0.020;DANN_score=0.927;fathmm-MKL_coding_score=0.007;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.187;MetaSVM_pred=T;MetaLR_score=0.638;MetaLR_pred=D;integrated_fitCons_score=0.437;integrated_confidence_value=0;GERP++_RS=-2.27;phyloP7way_vertebrate=-0.954;phyloP20way_mammalian=-1.053;phastCons7way_vertebrate=0.504;phastCons20way_mammalian=0.079;SiPhy_29way_logOdds=1.28;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM067994#"Altered_channel_function";gnomAD_exome_ALL=0.0003;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0003;gnomAD_exome_ASJ=0.0002;gnomAD_exome_EAS=0;gnomAD_exome_FIN=6.69e-05;gnomAD_exome_NFE=0.0005;gnomAD_exome_OTH=0.0008;gnomAD_exome_SAS=3.496e-05;gnomAD_genome_ALL=0.0003;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0005;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:373:0,188 . 12 5153694 309336;rs45504599 C T 200.00 . #_unique_end_positions=,86;#_unique_start_positions=,71;AC=2;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0038;AF_ESP_clinvar_20171029_hg19=,0.0307;AF_EXAC_clinvar_20171029_hg19=,0.02675;AF_TGP_clinvar_20171029_hg19=,0.0148;ALLELEID_clinvar_20171029_hg19=,325381;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0259;AN=2;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.48;CAF_dbsnp_common_v150_hg19_refseq=,0.9852|.|0.01478;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN204347|Orphanet:ORPHA334;CLNDN_clinvar_20171029_hg19=,Familial_atrial_fibrillation;CLNHGVS_clinvar_20171029_hg19=,NC_000012.11:g.5153694C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_single_submitter;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:61175;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_002234.3:c.381C>T;Coding_region_change_in_longest_transcript=,NM_002234.3:c.381C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.001;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0398;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,212;GENEINFO_dbsnp_common_v150_hg19_refseq=,KCNA5:3741;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:3741;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:3741;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:6224;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:6224;Homo_sapiens_refseq_GRCh37.p13_Genes=,KCNA5;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_002234.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene24816;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna35992;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:176267;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:176267;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene24816;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,5153694;RS_dbsnp_common_v150_hg19_refseq=,45504599;Read_count=,232;Read_coverage=,455;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9524833186861887;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_002234.3;Reverse_read_coverage=,243;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0102;SF=9,19;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.973522|.|0.0264785;TPA_dbsnp_common_v150_hg19_refseq=,TPA;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05031000030514053e000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.428;db_xref=,GeneID:3741|HGNC:HGNC:6224|MIM:176267;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:08888;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_002234.3|HPRD:08888;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,potassium_voltage-gated_channel_subfamily_A_member_5;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,KCNA5;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,KCNA5;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ATFB7|HCK1|HK2|HPCN1|KV1.5|PCN1;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,potassium_voltage-gated_channel_subfamily_A_member_5;transcript_id=,NM_002234.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KCNA5;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCNA5:NM_002234:exon1:c.C381T:p.S127S;cytoBand=12p13.32;genomicSuperDups=.;esp6500siv2_all=0.0307;esp6500siv2_ea=0.0411;esp6500siv2_all=0.0307;esp6500siv2_ea=0.0411;1000g2015aug_all=0.0147764;avsnp147=rs45504599;Kaviar_AF=0.0275029;Kaviar_AC=4252;Kaviar_AN=154602;ExAC_ALL=0.0267;ExAC_AFR=0.0082;ExAC_AMR=0.0123;ExAC_EAS=0.0001;ExAC_FIN=0.0288;ExAC_NFE=0.0390;ExAC_OTH=0.0266;ExAC_SAS=0.0128;CLNALLELEID=325381;CLNDN=Atrial_fibrillation,_familial,_7|Familial_atrial_fibrillation;CLNDISDB=MedGen:C2677106,OMIM:612240|MedGen:CN204347,Orphanet:ORPHA334;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0258;gnomAD_exome_AFR=0.0073;gnomAD_exome_AMR=0.0120;gnomAD_exome_ASJ=0.0201;gnomAD_exome_EAS=5.806e-05;gnomAD_exome_FIN=0.0289;gnomAD_exome_NFE=0.0403;gnomAD_exome_OTH=0.0242;gnomAD_exome_SAS=0.0123;gnomAD_genome_ALL=0.0268;gnomAD_genome_AFR=0.0082;gnomAD_genome_AMR=0.0131;gnomAD_genome_ASJ=0.0133;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0272;gnomAD_genome_NFE=0.0411;gnomAD_genome_OTH=0.0316;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . 1:431:0,222 . . . . . . . . . 1:402:0,206 . . . . . . . . . . . . . . . . . . . . . . 12 5154232 191463;rs17215409 C T 200.00 . #_unique_end_positions=,67;#_unique_start_positions=,63;AC=2;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0008;AF_ESP_clinvar_20171029_hg19=,0.0024;AF_EXAC_clinvar_20171029_hg19=,0.00194;AF_TGP_clinvar_20171029_hg19=,0.0014;ALLELEID_clinvar_20171029_hg19=,189353;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0014;AN=2;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_002225.2:p.Pro307Ser;Amino_acid_change_in_longest_transcript=,NP_002225.2:p.Pro307Ser;BaseQRankSum=,-0.42;CAF_dbsnp_common_v150_hg19_refseq=,0.9986|0.001398;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN231063;CLNDN_clinvar_20171029_hg19=,altered_potassium_channel_function;CLNHGVS_clinvar_20171029_hg19=,NC_000012.11:g.5154232C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_single_submitter;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_002234.3:c.919C>T;Coding_region_change_in_longest_transcript=,NM_002234.3:c.919C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.005;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,122;GENEINFO_dbsnp_common_v150_hg19_refseq=,KCNA5:3741;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:3741;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:3741;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:6224;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:6224;Homo_sapiens_refseq_GRCh37.p13_Genes=,KCNA5;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_002234.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene24816;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna35992;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:176267;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:176267;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,0;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene24816;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,5154232;RS_dbsnp_common_v150_hg19_refseq=,17215409;Read_count=,133;Read_coverage=,235;Read_direction_test_probability=,0.9523257598022827;Read_position_test_probability=,0.9334238895099302;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_002234.3;Reverse_read_coverage=,113;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0;SF=4,6;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.997974|0.00202624;TPA_dbsnp_common_v150_hg19_refseq=,TPA;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050338000a05040536000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.001;db_xref=,GeneID:3741|HGNC:HGNC:6224|MIM:176267;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:08888;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_002234.3|HPRD:08888;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,potassium_voltage-gated_channel_subfamily_A_member_5;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,KCNA5;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,KCNA5;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ATFB7|HCK1|HK2|HPCN1|KV1.5|PCN1;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,potassium_voltage-gated_channel_subfamily_A_member_5;transcript_id=,NM_002234.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KCNA5;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=KCNA5:NM_002234:exon1:c.C919T:p.P307S;cytoBand=12p13.32;genomicSuperDups=.;esp6500siv2_all=0.0024;esp6500siv2_ea=0.0028;esp6500siv2_all=0.0024;esp6500siv2_ea=0.0028;1000g2015aug_all=0.00139776;avsnp147=rs17215409;Kaviar_AF=0.0021022;Kaviar_AC=325;Kaviar_AN=154602;ExAC_ALL=0.0019;ExAC_AFR=0.0011;ExAC_AMR=0.0003;ExAC_EAS=0;ExAC_FIN=0.0005;ExAC_NFE=0.0031;ExAC_OTH=0.0022;ExAC_SAS=0.0004;CLNALLELEID=189353;CLNDN=Atrial_fibrillation,_familial,_7|altered_potassium_channel_function;CLNDISDB=MedGen:C2677106,OMIM:612240|MedGen:CN231063;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.454;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_pred=U;MutationTaster_score=1.000;MutationTaster_pred=N;MutationAssessor_score=-1.15;MutationAssessor_pred=N;FATHMM_score=-4.32;FATHMM_pred=D;PROVEAN_score=0.02;PROVEAN_pred=N;VEST3_score=0.101;CADD_raw=-2.109;CADD_phred=0.001;DANN_score=0.615;fathmm-MKL_coding_score=0.136;fathmm-MKL_coding_pred=N;MetaSVM_score=0.154;MetaSVM_pred=D;MetaLR_score=0.569;MetaLR_pred=D;integrated_fitCons_score=0.598;integrated_confidence_value=0;GERP++_RS=-0.862;phyloP7way_vertebrate=-0.926;phyloP20way_mammalian=-0.441;phastCons7way_vertebrate=0.002;phastCons20way_mammalian=0.003;SiPhy_29way_logOdds=2.667;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM067995#"Altered_channel_function";gnomAD_exome_ALL=0.0022;gnomAD_exome_AFR=0.0010;gnomAD_exome_AMR=0.0010;gnomAD_exome_ASJ=0.0001;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0011;gnomAD_exome_NFE=0.0040;gnomAD_exome_OTH=0.0017;gnomAD_exome_SAS=0.0003;gnomAD_genome_ALL=0.0022;gnomAD_genome_AFR=0.0010;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0011;gnomAD_genome_NFE=0.0035;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:DP:CLCAD2 . . . . 1:208:0,118 . 1:261:0,134 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 12 5154462 258594;rs2359641 T C 192.22 . #_unique_end_positions=,111;#_unique_start_positions=,104;AC=84;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9372;ALLELEID_clinvar_20171029_hg19=,254607;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9885;AN=84;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;CAF_dbsnp_common_v150_hg19_refseq=,0.01897|0.981|.;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374|MedGen:CN204347|Orphanet:ORPHA334;CLNDN_clinvar_20171029_hg19=,not_specified|Familial_atrial_fibrillation;CLNHGVS_clinvar_20171029_hg19=,NC_000012.11:g.5154462T>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:250311;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_002234.3:c.1149T>C;Coding_region_change_in_longest_transcript=,NM_002234.3:c.1149T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.996;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,1;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,131;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,KCNA5:3741;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:3741;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:3741;Genotype=,C/C;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:6224;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:6224;Homo_sapiens_refseq_GRCh37.p13_Genes=,KCNA5;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_002234.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene24816;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna35992;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:176267;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:176267;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene24816;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,5154462;RS_dbsnp_common_v150_hg19_refseq=,2359641;Read_count=,305;Read_coverage=,305;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_002234.3;Reverse_read_coverage=,174;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,1;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.023525|0.976475|.;TPA_dbsnp_common_v150_hg19_refseq=,TPA;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05033800030515013e000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.0;db_xref=,GeneID:3741|HGNC:HGNC:6224|MIM:176267;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:08888;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_002234.3|HPRD:08888;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,potassium_voltage-gated_channel_subfamily_A_member_5;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,KCNA5;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,KCNA5;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ATFB7|HCK1|HK2|HPCN1|KV1.5|PCN1;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,potassium_voltage-gated_channel_subfamily_A_member_5;transcript_id=,NM_002234.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KCNA5;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCNA5:NM_002234:exon1:c.T1149C:p.G383G;cytoBand=12p13.32;genomicSuperDups=.;esp6500siv2_all=0.9847;esp6500siv2_ea=0.9999;esp6500siv2_all=0.9847;esp6500siv2_ea=0.9999;1000g2015aug_all=0.98103;avsnp147=rs2359641;Kaviar_AF=0.0001423;Kaviar_AC=22;Kaviar_AN=154602;ExAC_ALL=0.9954;ExAC_AFR=0.9530;ExAC_AMR=0.9984;ExAC_EAS=0.9946;ExAC_FIN=1;ExAC_NFE=0.9999;ExAC_OTH=0.9956;ExAC_SAS=0.9999;CLNALLELEID=254607;CLNDN=Atrial_fibrillation,_familial,_7|not_specified|Familial_atrial_fibrillation;CLNDISDB=MedGen:C2677106,OMIM:612240|MedGen:CN169374|MedGen:CN204347,Orphanet:ORPHA334;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.9962;gnomAD_exome_AFR=0.9518;gnomAD_exome_AMR=0.9979;gnomAD_exome_ASJ=1;gnomAD_exome_EAS=0.9949;gnomAD_exome_FIN=1;gnomAD_exome_NFE=0.9999;gnomAD_exome_OTH=0.9980;gnomAD_exome_SAS=0.9999;gnomAD_genome_ALL=0.9853;gnomAD_genome_AFR=0.9496;gnomAD_genome_AMR=0.9916;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=0.9969;gnomAD_genome_FIN=1;gnomAD_genome_NFE=0.9999;gnomAD_genome_OTH=0.9969;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1/1:267:0,267 1/1:389:0,388 1/1:332:0,332 1/1:361:0,361 1/1:280:0,279 1/1:396:0,395 1/1:317:0,314 1/1:361:0,361 1/1:420:0,419 1/1:289:0,289 1/1:432:0,432 1/1:375:0,375 1/1:385:0,382 1/1:400:0,400 1/1:491:0,491 1/1:393:0,393 1/1:409:0,409 1/1:396:0,395 1/1:336:0,336 1/1:319:0,319 1/1:311:0,311 1/1:383:0,382 1/1:544:0,543 1/1:513:0,513 1/1:465:0,465 1/1:300:0,300 1/1:350:0,350 1/1:444:0,443 1/1:453:0,453 1/1:544:0,544 1/1:476:0,476 1/1:206:0,206 1/1:390:0,390 1/1:251:0,251 1/1:405:0,405 1/1:392:0,392 1/1:322:0,322 1/1:255:0,255 1/1:342:0,342 1/1:448:0,447 1/1:333:0,333 1/1:294:0,294 12 21918667 157543;rs72554071 G A 200.00 . #_unique_end_positions=,24;#_unique_start_positions=,20;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0;AF_ESP_clinvar_20171029_hg19=,0.0015;AF_EXAC_clinvar_20171029_hg19=,0.00165;AF_TGP_clinvar_20171029_hg19=,0.0002;ALLELEID_clinvar_20171029_hg19=,167406;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0;AN=1;Amino_acid_change=,NP_004973.1:p.Ser422Leu;Amino_acid_change_in_longest_transcript=,NP_004973.1:p.Ser422Leu;BaseQRankSum=,0.21;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374|MedGen:CN517202;CLNDN_clinvar_20171029_hg19=,not_specified|not_provided;CLNHGVS_clinvar_20171029_hg19=,NC_000012.11:g.21918667G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_conflicting_interpretations;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,OMIM_Allelic_Variant:600935.0001|UniProtKB_(protein):Q15842#VAR_065225;Coding_region_change=,NM_004982.3:c.1265C>T;Coding_region_change_in_longest_transcript=,NM_004982.3:c.1265C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.001;Exact_match=,clinvar_20171029_hg19|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,58;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:3764;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:3764;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:6269;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:6269;Homo_sapiens_refseq_GRCh37.p13_Genes=,KCNJ8;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_004982.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene25165;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna36502;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:600935;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:600935;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene25165;QUAL=,200.0;Read_count=,36;Read_coverage=,73;Read_direction_test_probability=,0.9734277827678018;Read_position_test_probability=,0.7089997810122561;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_004982.3;Reverse_read_coverage=,15;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0;SF=22;conservation_score=,0.038;db_xref=,GeneID:3764|HGNC:HGNC:6269|MIM:600935;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:02962;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_004982.3|HPRD:02962;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,potassium_voltage-gated_channel_subfamily_J_member_8;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,KCNJ8;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,KCNJ8;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,KIR6.1|uKATP-1;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,potassium_voltage-gated_channel_subfamily_J_member_8;transcript_id=,NM_004982.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KCNJ8;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=KCNJ8:NM_004982:exon3:c.C1265T:p.S422L;cytoBand=12p12.1;genomicSuperDups=.;esp6500siv2_all=0.0015;esp6500siv2_ea=0.0022;esp6500siv2_all=0.0015;esp6500siv2_ea=0.0022;1000g2015aug_all=0.000199681;avsnp147=rs72554071;Kaviar_AF=0.0014618;Kaviar_AC=226;Kaviar_AN=154602;ExAC_ALL=0.0016;ExAC_AFR=9.615e-05;ExAC_AMR=0.0010;ExAC_EAS=0.0001;ExAC_FIN=0;ExAC_NFE=0.0025;ExAC_OTH=0.0033;ExAC_SAS=0.0010;CLNALLELEID=167406;CLNDN=Brugada_syndrome|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.21;SIFT_pred=T;Polyphen2_HDIV_score=0.013;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.004;Polyphen2_HVAR_pred=B;LRT_score=0.243;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=-1.12;FATHMM_pred=T;PROVEAN_score=-0.62;PROVEAN_pred=N;VEST3_score=0.254;CADD_raw=2.046;CADD_phred=16.50;DANN_score=0.930;fathmm-MKL_coding_score=0.447;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.952;MetaSVM_pred=T;MetaLR_score=0.199;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=4.45;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.029;phastCons7way_vertebrate=0.703;phastCons20way_mammalian=0.981;SiPhy_29way_logOdds=9.499;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM091549#"Ventricular_fibrillation";gnomAD_exome_ALL=0.0018;gnomAD_exome_AFR=6.534e-05;gnomAD_exome_AMR=0.0007;gnomAD_exome_ASJ=0.0296;gnomAD_exome_EAS=5.798e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0008;gnomAD_exome_OTH=0.0024;gnomAD_exome_SAS=0.0010;gnomAD_genome_ALL=0.0008;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0430;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0006;gnomAD_genome_NFE=0.0005;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . 1:67:0,33 . . . . . . . . . . . . . . . . . . . 12 21919425 378009;rs139304559 G A 200.00 . #_unique_end_positions=,28;#_unique_start_positions=,26;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0;ALLELEID_clinvar_20171029_hg19=,373124;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.45;CAF_dbsnp_common_v150_hg19_refseq=,0.9996|0.0003994;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000012.11:g.21919425G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_single_submitter;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_004982.3:c.507C>T;Coding_region_change_in_longest_transcript=,NM_004982.3:c.507C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.002;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,19;GENEINFO_dbsnp_common_v150_hg19_refseq=,KCNJ8:3764;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:3764;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:3764;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:6269;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:6269;Homo_sapiens_refseq_GRCh37.p13_Genes=,KCNJ8;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_004982.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene25165;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna36502;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:600935;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:600935;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene25165;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,21919425;RS_dbsnp_common_v150_hg19_refseq=,139304559;Read_count=,32;Read_coverage=,73;Read_direction_test_probability=,0.999906254394394;Read_position_test_probability=,0.6140178557066006;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_004982.3;Reverse_read_coverage=,54;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0;SF=5;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.999691|0.000309087;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050200000305040036000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:3764|HGNC:HGNC:6269|MIM:600935;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:02962;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_004982.3|HPRD:02962;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,potassium_voltage-gated_channel_subfamily_J_member_8;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,KCNJ8;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,KCNJ8;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,KIR6.1|uKATP-1;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,potassium_voltage-gated_channel_subfamily_J_member_8;transcript_id=,NM_004982.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KCNJ8;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCNJ8:NM_004982:exon3:c.C507T:p.I169I;cytoBand=12p12.1;genomicSuperDups=.;esp6500siv2_all=0.0005;esp6500siv2_ea=0.0006;esp6500siv2_all=0.0005;esp6500siv2_ea=0.0006;1000g2015aug_all=0.000399361;avsnp147=rs139304559;Kaviar_AF=0.0008861;Kaviar_AC=137;Kaviar_AN=154602;ExAC_ALL=0.0010;ExAC_AFR=9.669e-05;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0.0024;ExAC_NFE=0.0016;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=373124;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0008;gnomAD_exome_AFR=0;gnomAD_exome_AMR=8.936e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0026;gnomAD_exome_NFE=0.0011;gnomAD_exome_OTH=0.0009;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0009;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0029;gnomAD_genome_NFE=0.0010;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:DP:CLCAD2 . . . . . 1:71:0,32 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 12 22040784 45392;rs150036969 C A 52.01 . #_unique_end_positions=,20;#_unique_start_positions=,17;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0;AF_ESP_clinvar_20171029_hg19=,0.0007;AF_EXAC_clinvar_20171029_hg19=,0.00015;AF_TGP_clinvar_20171029_hg19=,0.0004;ALLELEID_clinvar_20171029_hg19=,54559;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0;AN=1;Amino_acid_change=,NP_005682.2:p.Glu629Asp|_NP_064693.2:p.Glu629Asp;Amino_acid_change_in_longest_transcript=,NP_064693.2:p.Glu629Asp;BaseQRankSum=,-0.94;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374|MedGen:CN517202;CLNDN_clinvar_20171029_hg19=,not_specified|not_provided;CLNHGVS_clinvar_20171029_hg19=,NC_000012.11:g.22040784C>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_conflicting_interpretations;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;Coding_region_change=,NM_005691.3:c.1887G>T|_NM_020297.3:c.1887G>T;Coding_region_change_in_longest_transcript=,NM_020297.3:c.1887G>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.002;Exact_match=,clinvar_20171029_hg19|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,24;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:10060;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:10060;Genotype=,A/C;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:60;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:60;Homo_sapiens_refseq_GRCh37.p13_Genes=,ABCC9;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_020297.3|NM_005691.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene25166;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna36503|rna36504;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:601439;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:601439;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene25166;QUAL=,52.01417183940443;Read_count=,26;Read_coverage=,39;Read_direction_test_probability=,0.8310669464962703;Read_position_test_probability=,0.9547706588401148;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_020297.3|NM_005691.3;Reverse_read_coverage=,15;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0;SF=15;conservation_score=,1.0;db_xref=,GeneID:10060|HGNC:HGNC:60|MIM:601439;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_020297.3|Genbank:NM_005691.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ATP_binding_cassette_subfamily_C_member_9;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ABCC9;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,ABCC9;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ABC37|ATFB12|CANTU|CMD1O|SUR2;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,ATP_binding_cassette_subfamily_C_member_9|_transcript_variant_SUR2B|ATP_binding_cassette_subfamily_C_member_9|_transcript_variant_SUR2A;transcript_id=,NM_020297.3|NM_005691.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=ABCC9:NM_005691:exon13:c.G1887T:p.E629D,ABCC9:NM_020297:exon13:c.G1887T:p.E629D;cytoBand=12p12.1;genomicSuperDups=.;esp6500siv2_all=0.0007;esp6500siv2_ea=0.0010;esp6500siv2_all=0.0007;esp6500siv2_ea=0.0010;1000g2015aug_all=0.000399361;avsnp147=rs150036969;Kaviar_AF=0.000194;Kaviar_AC=30;Kaviar_AN=154602;ExAC_ALL=0.0001;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0003;ExAC_OTH=0.0011;ExAC_SAS=0;CLNALLELEID=54559;CLNDN=Dilated_cardiomyopathy_1O|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1837839,OMIM:608569|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.488;SIFT_pred=T;Polyphen2_HDIV_score=0.096;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.1;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.999;MutationTaster_pred=D;MutationAssessor_score=0.805;MutationAssessor_pred=L;FATHMM_score=-2.93;FATHMM_pred=D;PROVEAN_score=-0.79;PROVEAN_pred=N;VEST3_score=0.661;CADD_raw=2.197;CADD_phred=17.49;DANN_score=0.986;fathmm-MKL_coding_score=0.897;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.410;MetaSVM_pred=T;MetaLR_score=0.540;MetaLR_pred=D;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=3.24;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.919;phastCons7way_vertebrate=0.999;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=8.091;GDI_full_10282015=.;dpsi_max_tissue=0.0126;dpsi_zscore=0.086;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0002;gnomAD_exome_AFR=6.543e-05;gnomAD_exome_AMR=0.0002;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0004;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0002;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0005;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . . . . . . . . 1:36:0,25 . . . . . . . . . . . . . . . . . . . . . . . . . . 12 22063115 45386;rs10770865 A G 137.10 . #_unique_end_positions=,38;#_unique_start_positions=,34;AC=84;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9902;ALLELEID_clinvar_20171029_hg19=,54553;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9986;AN=84;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;CAF_dbsnp_common_v150_hg19_refseq=,0.002796|0.9972;CLNDISDB_clinvar_20171029_hg19=,MedGen:C0795905|OMIM:239850|Orphanet:ORPHA1517|MedGen:CN169374|MedGen:CN204347|Orphanet:ORPHA334|MedGen:CN230736|MedGen:CN239310;CLNDN_clinvar_20171029_hg19=,Hypertrichotic_osteochondrodysplasia|not_specified|Familial_atrial_fibrillation|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant;CLNHGVS_clinvar_20171029_hg19=,NC_000012.11:g.22063115A>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:10117;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_005691.3:c.1296T>C|_NM_020297.3:c.1296T>C;Coding_region_change_in_longest_transcript=,NM_020297.3:c.1296T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,1;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,1;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,29;GENEINFO_dbsnp_common_v150_hg19_refseq=,ABCC9:10060;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:10060;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:10060;Genotype=,G/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:60;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:60;Homo_sapiens_refseq_GRCh37.p13_Genes=,ABCC9;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_020297.3|NM_005691.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene25166;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna36503|rna36504;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:601439;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:601439;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene25166;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,22063115;RS_dbsnp_common_v150_hg19_refseq=,10770865;Read_count=,55;Read_coverage=,55;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_020297.3|NM_005691.3;Reverse_read_coverage=,26;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,1;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TPA_dbsnp_common_v150_hg19_refseq=,TPA;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05013800030504053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,1;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,1;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,1;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.991667;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.995;db_xref=,GeneID:10060|HGNC:HGNC:60|MIM:601439;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_020297.3|Genbank:NM_005691.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ATP_binding_cassette_subfamily_C_member_9;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ABCC9;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,ABCC9;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ABC37|ATFB12|CANTU|CMD1O|SUR2;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,ATP_binding_cassette_subfamily_C_member_9|_transcript_variant_SUR2B|ATP_binding_cassette_subfamily_C_member_9|_transcript_variant_SUR2A;transcript_id=,NM_020297.3|NM_005691.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ABCC9:NM_005691:exon8:c.T1296C:p.P432P,ABCC9:NM_020297:exon8:c.T1296C:p.P432P;cytoBand=12p12.1;genomicSuperDups=.;esp6500siv2_all=0.9965;esp6500siv2_ea=1;esp6500siv2_all=0.9965;esp6500siv2_ea=1;1000g2015aug_all=0.997204;avsnp147=rs10770865;Kaviar_AF=0.941314;Kaviar_AC=145529;Kaviar_AN=154602;ExAC_ALL=0.9990;ExAC_AFR=0.9899;ExAC_AMR=0.9985;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=1.0000;ExAC_OTH=0.9989;ExAC_SAS=1;CLNALLELEID=54553;CLNDN=Hypertrichotic_osteochondrodysplasia|not_specified|Familial_atrial_fibrillation|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517|MedGen:CN169374|MedGen:CN204347,Orphanet:ORPHA334|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.3030;dpsi_zscore=0.896;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.9993;gnomAD_exome_AFR=0.9903;gnomAD_exome_AMR=0.9993;gnomAD_exome_ASJ=1;gnomAD_exome_EAS=1;gnomAD_exome_FIN=1;gnomAD_exome_NFE=1;gnomAD_exome_OTH=0.9989;gnomAD_exome_SAS=0.9999;gnomAD_genome_ALL=0.9973;gnomAD_genome_AFR=0.9905;gnomAD_genome_AMR=1;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=1;gnomAD_genome_FIN=1;gnomAD_genome_NFE=1;gnomAD_genome_OTH=1;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 1/1:50:0,50 1/1:47:0,47 1/1:32:0,32 1/1:37:0,37 1/1:17:0,17 1/1:30:0,30 1/1:23:0,23 1/1:18:0,18 1/1:34:0,34 1/1:36:0,36 1/1:36:0,36 1/1:27:0,27 1/1:38:0,38 1/1:41:0,41 1/1:37:0,37 1/1:28:0,28 1/1:37:0,37 1/1:33:0,33 1/1:27:0,27 1/1:51:0,51 1/1:54:0,54 1/1:45:0,45 1/1:38:0,38 1/1:29:0,29 1/1:31:0,31 1/1:26:0,26 1/1:55:0,55 1/1:41:0,41 1/1:31:0,31 1/1:34:0,34 1/1:45:0,45 1/1:33:0,33 1/1:27:0,27 1/1:25:0,25 1/1:37:0,37 1/1:42:0,42 1/1:30:0,30 1/1:36:0,36 1/1:30:0,30 1/1:40:0,40 1/1:41:0,41 1/1:39:0,39 12 25362762 45129 TTTC T 200.00 . #_unique_end_positions=,8;#_unique_start_positions=,7;AC=1;AF_EXAC_clinvar_20171029_hg19=,0.00052;ALLELEID_clinvar_20171029_hg19=,54296;AN=1;Amino_acid_change=,NP_004976.2:p.Lys180del;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.43;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN166718|Orphanet:ORPHA98733|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Rasopathy|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000012.11:g.25362763_25362765delTTC;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_conflicting_interpretations;CLNVCSO_clinvar_20171029_hg19=,SO:0000159;CLNVC_clinvar_20171029_hg19=,Deletion;Coding_region_change=,NM_004985.4:c.531_533del|_NM_033360.3:c.*85_*87del;Coding_region_change_in_longest_transcript=,NM_033360.3:c.*85_*87del;Exact_match=,clinvar_20171029_hg19;Forward_read_coverage=,7;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:3845;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:3845;Genotype=,complex;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:6407;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:6407;Homo_sapiens_refseq_GRCh37.p13_Genes=,KRAS;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_004985.4|NM_033360.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene25193;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna36549|rna36550;MC_clinvar_20171029_hg19=,SO:0001624|3_prime_UTR_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:190070;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:190070;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_2_substitutions_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene25193;QUAL=,200.0;Read_count=,8;Read_coverage=,24;Read_direction_test_probability=,0.9958074245981265;Read_position_test_probability=,0.7312519487210466;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_004985.4|NM_033360.3;Reverse_read_coverage=,17;SF=8;Start_by_3'_rule=,25362762;conservation_score=,1.0;db_xref=,GeneID:3845|HGNC:HGNC:6407|MIM:190070;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:01817;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_004985.4|HPRD:01817|Genbank:NM_033360.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,KRAS_proto-oncogene|_GTPase;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,KRAS;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,KRAS;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,C-K-RAS|c-Ki-ras2|CFC2|K-RAS2A|K-RAS2B|K-RAS4A|K-RAS4B|KI-RAS|KRAS1|KRAS2|NS|NS3|RALD|RASK2;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,KRAS_proto-oncogene|_GTPase|_transcript_variant_b|KRAS_proto-oncogene|_GTPase|_transcript_variant_a;transcript_id=,NM_004985.4|NM_033360.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KRAS;GeneDetail.refGene=.;ExonicFunc.refGene=nonframeshift_deletion;AAChange.refGene=KRAS:NM_004985:exon5:c.531_533del:p.177_178del;cytoBand=12p12.1;genomicSuperDups=Score\x3d0.919627\x3bName\x3dchr6:54635829;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs397517043;Kaviar_AF=0.0001294;Kaviar_AC=20;Kaviar_AN=154602;ExAC_ALL=0.0005;ExAC_AFR=0.0001;ExAC_AMR=0.0003;ExAC_EAS=0;ExAC_FIN=0.0002;ExAC_NFE=0.0008;ExAC_OTH=0;ExAC_SAS=6.149e-05;CLNALLELEID=54296;CLNDN=Rasopathy|not_specified|not_provided;CLNDISDB=MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0005;gnomAD_exome_AFR=0.0005;gnomAD_exome_AMR=0.0002;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=8.998e-05;gnomAD_exome_NFE=0.0010;gnomAD_exome_OTH=0.0004;gnomAD_exome_SAS=6.557e-05;gnomAD_genome_ALL=0.0007;gnomAD_genome_AFR=0.0006;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0009;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:DP:CLCAD2 . . . . . . . . 1:24:0,8 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 12 25362777 41449;rs1137282 A G 60.02 . #_unique_end_positions=,7;#_unique_start_positions=,7;AC=17;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.18;AF_ESP_clinvar_20171029_hg19=,0.2008;AF_EXAC_clinvar_20171029_hg19=,0.19690;AF_TGP_clinvar_20171029_hg19=,0.1755;ALLELEID_clinvar_20171029_hg19=,49887;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1931;AN=17;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.45;CAF_dbsnp_common_v150_hg19_refseq=,0.8245|0.1755|.;CLNDISDB_clinvar_20171029_hg19=,MeSH:D009634|MedGen:C0028326|Orphanet:ORPHA648|SNOMED_CT:205824006|MedGen:C1275081|Orphanet:ORPHA1340|SNOMED_CT:403770008|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Noonan_syndrome|Cardio-facio-cutaneous_syndrome|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000012.11:g.25362777A>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:49734;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_004985.4:c.519T>C|_NM_033360.3:c.*73T>C;Coding_region_change_in_longest_transcript=,NM_033360.3:c.*73T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0923;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2187;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,4;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,KRAS:3845;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:3845;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:3845;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:6407;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:6407;Homo_sapiens_refseq_GRCh37.p13_Genes=,KRAS;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_004985.4|NM_033360.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene25193;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna36549|rna36550;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001624|3_prime_UTR_variant|SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:190070;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:190070;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_2_substitutions_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene25193;QUAL=,59.99029783769602;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,25362777;RS_dbsnp_common_v150_hg19_refseq=,1137282;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,7;Read_coverage=,14;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.4855207108606475;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_004985.4|NM_033360.3;Reverse_read_coverage=,10;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1984;SF=1,2,4,7,8,9,15,18,20,24,28,30,33,37;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.788035|0.211965|.;U3_dbsnp_common_v150_hg19_refseq=,U3;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05032880030515053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.233333;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.111111;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.133333;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.183333;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:3845|HGNC:HGNC:6407|MIM:190070;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:01817;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_004985.4|HPRD:01817|Genbank:NM_033360.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,KRAS_proto-oncogene|_GTPase;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,KRAS;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,KRAS;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,C-K-RAS|c-Ki-ras2|CFC2|K-RAS2A|K-RAS2B|K-RAS4A|K-RAS4B|KI-RAS|KRAS1|KRAS2|NS|NS3|RALD|RASK2;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,KRAS_proto-oncogene|_GTPase|_transcript_variant_b|KRAS_proto-oncogene|_GTPase|_transcript_variant_a;transcript_id=,NM_004985.4|NM_033360.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KRAS;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KRAS:NM_004985:exon5:c.T519C:p.D173D;cytoBand=12p12.1;genomicSuperDups=Score\x3d0.919627\x3bName\x3dchr6:54635829;esp6500siv2_all=0.2008;esp6500siv2_ea=0.2160;esp6500siv2_all=0.2008;esp6500siv2_ea=0.2160;1000g2015aug_all=0.175519;avsnp147=rs1137282;Kaviar_AF=0.194758;Kaviar_AC=30110;Kaviar_AN=154602;ExAC_ALL=0.1969;ExAC_AFR=0.1846;ExAC_AMR=0.1708;ExAC_EAS=0.1003;ExAC_FIN=0.1591;ExAC_NFE=0.2216;ExAC_OTH=0.1599;ExAC_SAS=0.1911;CLNALLELEID=49887;CLNDN=Noonan_syndrome|Cardio-facio-cutaneous_syndrome|Rasopathy|not_specified;CLNDISDB=MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:C1275081,Orphanet:ORPHA1340,SNOMED_CT:403770008|MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1906;gnomAD_exome_AFR=0.1766;gnomAD_exome_AMR=0.1702;gnomAD_exome_ASJ=0.1646;gnomAD_exome_EAS=0.0958;gnomAD_exome_FIN=0.1554;gnomAD_exome_NFE=0.2223;gnomAD_exome_OTH=0.2009;gnomAD_exome_SAS=0.1905;gnomAD_genome_ALL=0.1879;gnomAD_genome_AFR=0.1742;gnomAD_genome_AMR=0.1993;gnomAD_genome_ASJ=0.1821;gnomAD_genome_EAS=0.0871;gnomAD_genome_FIN=0.1601;gnomAD_genome_NFE=0.2119;gnomAD_genome_OTH=0.2;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . 1:14:0,7 1:16:0,8 . 1:15:0,5 . . 1:12:0,4 1:24:0,9 1:15:0,9 . . . . . 1:10:0,3 . . 1:15:0,5 . 1/1:30:0,30 . . . 1/1:20:0,20 . . . 1:21:0,11 . 1:16:0,6 . . 1:16:0,7 . . . 1/1:19:0,19 . . . . 12 25368462 46538;rs4362222 C T 94.70 . #_unique_end_positions=,18;#_unique_start_positions=,17;AC=84;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9924;ALLELEID_clinvar_20171029_hg19=,55703;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9971;AN=84;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;CAF_dbsnp_common_v150_hg19_refseq=,0.002396|0.9976;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN166718|Orphanet:ORPHA98733|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Rasopathy|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000012.11:g.25368462C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_004985.4:c.451-5617G>A|_NM_033360.3:c.483G>A;Coding_region_change_in_longest_transcript=,NM_033360.3:c.483G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,1;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,1;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,8;GENEINFO_dbsnp_common_v150_hg19_refseq=,KRAS:3845;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:3845;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:3845;Genotype=,T/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:6407;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:6407;Homo_sapiens_refseq_GRCh37.p13_Genes=,KRAS;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_033360.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene25193;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna36550;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001627|intron_variant|SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:190070;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:190070;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_2_substitutions_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene25193;QUAL=,98.36170934944435;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,25368462;RS_dbsnp_common_v150_hg19_refseq=,4362222;Read_count=,26;Read_coverage=,26;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_033360.3;Reverse_read_coverage=,18;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,1;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05032808030504013e000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:3845|HGNC:HGNC:6407|MIM:190070;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:01817;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_033360.3|HPRD:01817;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,KRAS_proto-oncogene|_GTPase;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,KRAS;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,KRAS;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,C-K-RAS|c-Ki-ras2|CFC2|K-RAS2A|K-RAS2B|K-RAS4A|K-RAS4B|KI-RAS|KRAS1|KRAS2|NS|NS3|RALD|RASK2;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,KRAS_proto-oncogene|_GTPase|_transcript_variant_a;transcript_id=,NM_033360.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KRAS;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KRAS:NM_033360:exon5:c.G483A:p.R161R;cytoBand=12p12.1;genomicSuperDups=.;esp6500siv2_all=0.9985;esp6500siv2_ea=1;esp6500siv2_all=0.9985;esp6500siv2_ea=1;1000g2015aug_all=0.997604;avsnp147=rs4362222;Kaviar_AF=0.936689;Kaviar_AC=144814;Kaviar_AN=154602;ExAC_ALL=0.9995;ExAC_AFR=0.9949;ExAC_AMR=0.9997;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=1;ExAC_OTH=1;ExAC_SAS=1;CLNALLELEID=55703;CLNDN=Rasopathy|not_specified;CLNDISDB=MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.3955;dpsi_zscore=1.730;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.9996;gnomAD_exome_AFR=0.9945;gnomAD_exome_AMR=0.9999;gnomAD_exome_ASJ=1;gnomAD_exome_EAS=1;gnomAD_exome_FIN=1;gnomAD_exome_NFE=1;gnomAD_exome_OTH=0.9996;gnomAD_exome_SAS=1;gnomAD_genome_ALL=0.9985;gnomAD_genome_AFR=0.9948;gnomAD_genome_AMR=1;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=1;gnomAD_genome_FIN=1;gnomAD_genome_NFE=1;gnomAD_genome_OTH=1;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1/1:23:0,23 1/1:18:0,18 1/1:18:0,18 1/1:17:0,17 1/1:20:0,20 1/1:13:0,13 1/1:13:0,13 1/1:24:0,24 1/1:24:0,24 1/1:35:0,35 1/1:31:0,31 1/1:18:0,18 1/1:13:0,13 1/1:20:0,20 1/1:30:0,30 1/1:25:0,25 1/1:23:0,23 1/1:26:0,26 1/1:20:0,20 1/1:23:0,23 1/1:39:0,39 1/1:21:0,20 1/1:19:0,19 1/1:16:0,16 1/1:15:0,15 1/1:12:0,12 1/1:20:0,20 1/1:22:0,22 1/1:22:0,22 1/1:20:0,20 1/1:15:0,15 1/1:16:0,16 1/1:14:0,14 1/1:24:0,24 1/1:24:0,24 1/1:23:0,23 1/1:34:0,34 1/1:34:0,34 1/1:24:0,24 1/1:30:0,30 1/1:28:0,28 1/1:23:0,23 12 32949088 . T C 153.53 . #_unique_end_positions=,23;#_unique_start_positions=,18;AC=1;AN=1;Amino_acid_change=,NP_001005242.2:p.Asn771Ser|_NP_004563.2:p.Asn815Ser;Amino_acid_change_in_longest_transcript=,NP_004563.2:p.Asn815Ser;BaseQRankSum=,0.22;Coding_region_change=,NM_001005242.2:c.2312A>G|_NM_004572.3:c.2444A>G;Coding_region_change_in_longest_transcript=,NM_004572.3:c.2444A>G;Forward_read_coverage=,24;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:5318;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:5318;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:9024;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:9024;Homo_sapiens_refseq_GRCh37.p13_Genes=,PKP2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001005242.2|NM_004572.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene25281;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna36668|rna36669;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:602861;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:602861;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene25281;QUAL=,153.5252977886304;Read_count=,28;Read_coverage=,73;Read_direction_test_probability=,0.9994377153423994;Read_position_test_probability=,0.7608407969954072;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001005242.2|NM_004572.3;Reverse_read_coverage=,49;SF=24;conservation_score=,0.999;db_xref=,GeneID:5318|HGNC:HGNC:9024|MIM:602861;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001005242.2|Genbank:NM_004572.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,plakophilin_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,PKP2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,PKP2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARVD9;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,plakophilin_2|_transcript_variant_2a|plakophilin_2|_transcript_variant_2b;transcript_id=,NM_001005242.2|NM_004572.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=PKP2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PKP2:NM_001005242:exon11:c.A2312G:p.N771S,PKP2:NM_004572:exon12:c.A2444G:p.N815S;cytoBand=12p11.21;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.378;SIFT_pred=T;Polyphen2_HDIV_score=0.004;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.004;Polyphen2_HVAR_pred=B;LRT_score=0.012;LRT_pred=N;MutationTaster_score=0.575;MutationTaster_pred=N;MutationAssessor_score=0.11;MutationAssessor_pred=N;FATHMM_score=0.81;FATHMM_pred=T;PROVEAN_score=-0.95;PROVEAN_pred=N;VEST3_score=0.03;CADD_raw=0.895;CADD_phred=10.04;DANN_score=0.976;fathmm-MKL_coding_score=0.565;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.022;MetaSVM_pred=T;MetaLR_score=0.056;MetaLR_pred=T;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=3.7;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=1.056;phastCons7way_vertebrate=0.949;phastCons20way_mammalian=0.845;SiPhy_29way_logOdds=7.270;GDI_full_10282015=.;dpsi_max_tissue=0.1486;dpsi_zscore=0.613;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . 1:69:0,26 . . . . . . . . . . . . . . . . . 12 32949184 . G A 135.97 . #_unique_end_positions=,18;#_unique_start_positions=,13;AC=1;AN=1;Amino_acid_change=,NP_001005242.2:p.Pro739Leu|_NP_004563.2:p.Pro783Leu;Amino_acid_change_in_longest_transcript=,NP_004563.2:p.Pro783Leu;BaseQRankSum=,0.0;Coding_region_change=,NM_001005242.2:c.2216C>T|_NM_004572.3:c.2348C>T;Coding_region_change_in_longest_transcript=,NM_004572.3:c.2348C>T;Forward_read_coverage=,18;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:5318;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:5318;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:9024;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:9024;Homo_sapiens_refseq_GRCh37.p13_Genes=,PKP2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001005242.2|NM_004572.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene25281;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna36668|rna36669;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:602861;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:602861;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene25281;QUAL=,135.9665492319055;Read_count=,24;Read_coverage=,44;Read_direction_test_probability=,0.9998529519890893;Read_position_test_probability=,0.7683449905792666;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001005242.2|NM_004572.3;Reverse_read_coverage=,26;SF=13;conservation_score=,0.982;db_xref=,GeneID:5318|HGNC:HGNC:9024|MIM:602861;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001005242.2|Genbank:NM_004572.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,plakophilin_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,PKP2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,PKP2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARVD9;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,plakophilin_2|_transcript_variant_2a|plakophilin_2|_transcript_variant_2b;transcript_id=,NM_001005242.2|NM_004572.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=PKP2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PKP2:NM_001005242:exon11:c.C2216T:p.P739L,PKP2:NM_004572:exon12:c.C2348T:p.P783L;cytoBand=12p11.21;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs758834771;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=8.243e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.5e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.036;SIFT_pred=D;Polyphen2_HDIV_score=0.856;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.149;Polyphen2_HVAR_pred=B;LRT_score=0.004;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.605;MutationAssessor_pred=M;FATHMM_score=0.78;FATHMM_pred=T;PROVEAN_score=-3.66;PROVEAN_pred=D;VEST3_score=0.506;CADD_raw=4.104;CADD_phred=23.7;DANN_score=0.988;fathmm-MKL_coding_score=0.916;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.681;MetaSVM_pred=T;MetaLR_score=0.159;MetaLR_pred=T;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=5.2;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.044;phastCons7way_vertebrate=0.995;phastCons20way_mammalian=0.980;SiPhy_29way_logOdds=18.730;GDI_full_10282015=.;dpsi_max_tissue=-0.3887;dpsi_zscore=-0.970;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=8.125e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0.0001;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0;gnomAD_exome_OTH=0;gnomAD_exome_SAS=3.249e-05;gnomAD_genome_ALL=3.254e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.737e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . . . . . . 1:43:0,24 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 12 32977026 36681;rs146102241 C T 104.03 . #_unique_end_positions=,13;#_unique_start_positions=,11;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0;AF_ESP_clinvar_20171029_hg19=,0.0032;AF_EXAC_clinvar_20171029_hg19=,0.00237;AF_TGP_clinvar_20171029_hg19=,0.0006;ALLELEID_clinvar_20171029_hg19=,45342;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0029;AN=1;Amino_acid_change=,NP_004563.2:p.Val587Ile|_NP_001005242.2:p.Val543Ile;Amino_acid_change_in_longest_transcript=,NP_004563.2:p.Val587Ile;BaseQRankSum=,0.0;CLNDISDB_clinvar_20171029_hg19=,MedGen:C0349788|Orphanet:ORPHA247|SNOMED_CT:253528005|SNOMED_CT:281170005|MedGen:C0878544|Orphanet:ORPHA167848|SNOMED_CT:85898001|MedGen:C1836906|OMIM:609040|MedGen:CN169374|MedGen:CN230736;CLNDN_clinvar_20171029_hg19=,Arrhythmogenic_right_ventricular_cardiomyopathy|Cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy|_type_9|not_specified|Cardiovascular_phenotype;CLNHGVS_clinvar_20171029_hg19=,NC_000012.11:g.32977026C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_conflicting_interpretations;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Genetics_Diagnostic_Laboratory|Children's_Hospital_of_Eastern_Ontario_(CHEO):337973|UniProtKB_(protein):Q99959#VAR_065715;Coding_region_change=,NM_001005242.2:c.1627G>A|_NM_004572.3:c.1759G>A;Coding_region_change_in_longest_transcript=,NM_004572.3:c.1759G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.001;Exact_match=,clinvar_20171029_hg19|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,14;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:5318;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:5318;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:9024;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:9024;Homo_sapiens_refseq_GRCh37.p13_Genes=,PKP2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001005242.2|NM_004572.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene25281;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna36668|rna36669;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:602861;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:602861;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene25281;QUAL=,104.03254460622318;Read_count=,15;Read_coverage=,32;Read_direction_test_probability=,0.9267685708737063;Read_position_test_probability=,0.6894502250610481;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001005242.2|NM_004572.3;Reverse_read_coverage=,18;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0;SF=26;conservation_score=,1.0;db_xref=,GeneID:5318|HGNC:HGNC:9024|MIM:602861;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001005242.2|Genbank:NM_004572.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,plakophilin_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,PKP2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,PKP2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARVD9;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,plakophilin_2|_transcript_variant_2a|plakophilin_2|_transcript_variant_2b;transcript_id=,NM_001005242.2|NM_004572.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=PKP2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PKP2:NM_001005242:exon7:c.G1627A:p.V543I,PKP2:NM_004572:exon8:c.G1759A:p.V587I;cytoBand=12p11.21;genomicSuperDups=.;esp6500siv2_all=0.0032;esp6500siv2_ea=0.0047;esp6500siv2_all=0.0032;esp6500siv2_ea=0.0047;1000g2015aug_all=0.000599042;avsnp147=rs146102241;Kaviar_AF=0.0024515;Kaviar_AC=379;Kaviar_AN=154602;ExAC_ALL=0.0024;ExAC_AFR=0.0009;ExAC_AMR=0.0022;ExAC_EAS=0;ExAC_FIN=0.0002;ExAC_NFE=0.0038;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=45342;CLNDN=Cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1836906,OMIM:609040|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.156;SIFT_pred=T;Polyphen2_HDIV_score=0.996;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.929;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=1.415;MutationAssessor_pred=L;FATHMM_score=-0.9;FATHMM_pred=T;PROVEAN_score=-0.25;PROVEAN_pred=N;VEST3_score=0.679;CADD_raw=5.403;CADD_phred=26.0;DANN_score=0.998;fathmm-MKL_coding_score=0.924;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.199;MetaSVM_pred=T;MetaLR_score=0.477;MetaLR_pred=T;integrated_fitCons_score=0.706;integrated_confidence_value=0;GERP++_RS=5.32;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.892;phastCons7way_vertebrate=0.996;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=19.025;GDI_full_10282015=.;dpsi_max_tissue=-0.0757;dpsi_zscore=-0.369;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM068257#"Arrhythmogenic_right_ventricular_cardiomyopathy";gnomAD_exome_ALL=0.0024;gnomAD_exome_AFR=0.0008;gnomAD_exome_AMR=0.0025;gnomAD_exome_ASJ=0.0093;gnomAD_exome_EAS=0;gnomAD_exome_FIN=9.038e-05;gnomAD_exome_NFE=0.0035;gnomAD_exome_OTH=0.0029;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0023;gnomAD_genome_AFR=0.0010;gnomAD_genome_AMR=0.0072;gnomAD_genome_ASJ=0.0099;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0009;gnomAD_genome_NFE=0.0033;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . 1:27:0,14 . . . . . . . . . . . . . . . 12 32994073 45033;rs146882581 G A 107.86 . #_unique_end_positions=,13;#_unique_start_positions=,12;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0091;AF_ESP_clinvar_20171029_hg19=,0.0037;AF_EXAC_clinvar_20171029_hg19=,0.00230;AF_TGP_clinvar_20171029_hg19=,0.0038;ALLELEID_clinvar_20171029_hg19=,54200;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0029;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001005242.2:p.Thr482Met|_NP_004563.2:p.Thr526Met;Amino_acid_change_in_longest_transcript=,NP_004563.2:p.Thr526Met;BaseQRankSum=,0.23;CAF_dbsnp_common_v150_hg19_refseq=,0.9962|0.003794;CLNDISDB_clinvar_20171029_hg19=,MedGen:C0349788|Orphanet:ORPHA247|SNOMED_CT:253528005|SNOMED_CT:281170005|MedGen:C1836906|OMIM:609040|MedGen:CN169374|MedGen:CN221565;CLNDN_clinvar_20171029_hg19=,Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy|_type_9|not_specified|Arrhythmogenic_right_ventricular_dysplasia/cardiomyopathy;CLNHGVS_clinvar_20171029_hg19=,NC_000012.11:g.32994073G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_conflicting_interpretations;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,UniProtKB_(protein):Q99959#VAR_065713;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001005242.2:c.1445C>T|_NM_004572.3:c.1577C>T;Coding_region_change_in_longest_transcript=,NM_004572.3:c.1577C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.005;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,18;GENEINFO_dbsnp_common_v150_hg19_refseq=,PKP2:5318;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:5318;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:5318;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:9024;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:9024;Homo_sapiens_refseq_GRCh37.p13_Genes=,PKP2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001005242.2|NM_004572.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene25281;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna36668|rna36669;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:602861;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:602861;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene25281;QUAL=,107.85715315358539;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,32994073;RS_dbsnp_common_v150_hg19_refseq=,146882581;Read_count=,19;Read_coverage=,47;Read_direction_test_probability=,0.8302315463839207;Read_position_test_probability=,0.9409644267844756;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001005242.2|NM_004572.3;Reverse_read_coverage=,29;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0;SF=10;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.996634|0.00336562;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050268000a05040436100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.194;db_xref=,GeneID:5318|HGNC:HGNC:9024|MIM:602861;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001005242.2|Genbank:NM_004572.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,plakophilin_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,PKP2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,PKP2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARVD9;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,plakophilin_2|_transcript_variant_2a|plakophilin_2|_transcript_variant_2b;transcript_id=,NM_001005242.2|NM_004572.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=PKP2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PKP2:NM_001005242:exon6:c.C1445T:p.T482M,PKP2:NM_004572:exon7:c.C1577T:p.T526M;cytoBand=12p11.21;genomicSuperDups=.;esp6500siv2_all=0.0037;esp6500siv2_ea=0.0023;esp6500siv2_all=0.0037;esp6500siv2_ea=0.0023;1000g2015aug_all=0.00379393;avsnp147=rs146882581;Kaviar_AF=0.0023738;Kaviar_AC=367;Kaviar_AN=154602;ExAC_ALL=0.0023;ExAC_AFR=0.0058;ExAC_AMR=0.0042;ExAC_EAS=0;ExAC_FIN=0.0005;ExAC_NFE=0.0025;ExAC_OTH=0.0044;ExAC_SAS=0;CLNALLELEID=54200;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified|Arrhythmogenic_right_ventricular_dysplasia/cardiomyopathy|Cardiovascular_phenotype;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1836906,OMIM:609040|MedGen:CN169374|MedGen:CN221565|MedGen:CN230736;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.07;SIFT_pred=T;Polyphen2_HDIV_score=0.198;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.032;Polyphen2_HVAR_pred=B;LRT_score=0.002;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=1.56;MutationAssessor_pred=L;FATHMM_score=-1.07;FATHMM_pred=T;PROVEAN_score=-1.37;PROVEAN_pred=N;VEST3_score=0.278;CADD_raw=0.934;CADD_phred=10.28;DANN_score=0.914;fathmm-MKL_coding_score=0.058;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.835;MetaSVM_pred=T;MetaLR_score=0.225;MetaLR_pred=T;integrated_fitCons_score=0.706;integrated_confidence_value=0;GERP++_RS=2.01;phyloP7way_vertebrate=-0.011;phyloP20way_mammalian=-0.233;phastCons7way_vertebrate=0.894;phastCons20way_mammalian=0.129;SiPhy_29way_logOdds=8.816;GDI_full_10282015=.;dpsi_max_tissue=-0.1144;dpsi_zscore=-0.491;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM113820#"Arrhythmogenic_right_ventricular_dysplasia/cardiomyopathy";gnomAD_exome_ALL=0.0024;gnomAD_exome_AFR=0.0052;gnomAD_exome_AMR=0.0058;gnomAD_exome_ASJ=0.0004;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0002;gnomAD_exome_NFE=0.0027;gnomAD_exome_OTH=0.0024;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0025;gnomAD_genome_AFR=0.0054;gnomAD_genome_AMR=0.0060;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0016;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:DP:CLCAD2 . . . . . . . . . . 1:39:0,16 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 12 32996181 419977 CTGGGA C 200.00 . #_unique_end_positions=,30;#_unique_start_positions=,25;AC=1;ALLELEID_clinvar_20171029_hg19=,408644;AN=1;Amino_acid_change=,NP_004563.2:p.Asn480fs;Amino_acid_change_in_longest_transcript=,NP_004563.2:p.Asn480fs;BaseQRankSum=,-0.43;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN517202;CLNDN_clinvar_20171029_hg19=,not_provided;CLNHGVS_clinvar_20171029_hg19=,NC_000012.11:g.32996182_32996186delTGGGA;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_single_submitter;CLNVCSO_clinvar_20171029_hg19=,SO:0000159;CLNVC_clinvar_20171029_hg19=,Deletion;Coding_region_change=,NM_001005242.2:c.1379-2047_1379-2043del|_NM_004572.3:c.1440_1444del;Coding_region_change_in_longest_transcript=,NM_004572.3:c.1440_1444del;Exact_match=,clinvar_20171029_hg19;Forward_read_coverage=,28;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:5318;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:5318;Genotype=,complex;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:9024;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:9024;Homo_sapiens_refseq_GRCh37.p13_Genes=,PKP2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_004572.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene25281;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna36669;MC_clinvar_20171029_hg19=,SO:0001589|frameshift_variant|SO:0001627|intron_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:602861;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:602861;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene25281;QUAL=,200.0;Read_count=,34;Read_coverage=,56;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9398111916716131;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_004572.3;Reverse_read_coverage=,28;SF=14;Start_by_3'_rule=,32996181;conservation_score=,0.029000000000000005;db_xref=,GeneID:5318|HGNC:HGNC:9024|MIM:602861;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_004572.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,plakophilin_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,PKP2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,PKP2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARVD9;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,plakophilin_2|_transcript_variant_2b;transcript_id=,NM_004572.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=PKP2;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=PKP2:NM_004572:exon6:c.1440_1444del:p.N480fs;cytoBand=12p11.21;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs775995156;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=1.794e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=3.247e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=408644;CLNDN=not_provided;CLNDISDB=MedGen:CN517202;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_pathogenic;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=8.494e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=1.851e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=3.229e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.662e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . . . . . . . 1:48:0,30 . . . . . . . . . . . . . . . . . . . . . . . . . . . 12 33021934 45006;rs1046116 A G 197.10 . #_unique_end_positions=,25;#_unique_start_positions=,24;AC=16;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2103;AF_ESP_clinvar_20171029_hg19=,0.2201;AF_EXAC_clinvar_20171029_hg19=,0.18002;AF_TGP_clinvar_20171029_hg19=,0.1514;ALLELEID_clinvar_20171029_hg19=,54173;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1614;AN=16;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_004563.2:p.Leu366Pro|_NP_001005242.2:p.Leu366Pro;Amino_acid_change_in_longest_transcript=,NP_004563.2:p.Leu366Pro;BaseQRankSum=,-0.5;CAF_dbsnp_common_v150_hg19_refseq=,0.8486|0.1514;CLNDISDB_clinvar_20171029_hg19=,MedGen:C0349788|Orphanet:ORPHA247|SNOMED_CT:253528005|SNOMED_CT:281170005|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNDN_clinvar_20171029_hg19=,Arrhythmogenic_right_ventricular_cardiomyopathy|not_specified|Cardiovascular_phenotype|Cardiomyopathy|_ARVC;CLNHGVS_clinvar_20171029_hg19=,NC_000012.11:g.33021934A>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:10426|UniProtKB_(protein):Q99959#VAR_063108;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001005242.2:c.1097T>C|_NM_004572.3:c.1097T>C;Coding_region_change_in_longest_transcript=,NM_004572.3:c.1097T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0308;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2157;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,34;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,PKP2:5318;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:5318;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:5318;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:9024;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:9024;Homo_sapiens_refseq_GRCh37.p13_Genes=,PKP2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001005242.2|NM_004572.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene25281;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna36668|rna36669;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:602861;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:602861;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene25281;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,33021934;RS_dbsnp_common_v150_hg19_refseq=,1046116;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,31;Read_coverage=,69;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.879092728142917;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001005242.2|NM_004572.3;Reverse_read_coverage=,35;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1227;SF=6,7,8,13,15,16,17,24,25,26,31,32,34,39,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.801703|0.198297;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050328000a0515053f000101;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.153061;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.233333;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.0853659;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.0352941;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.125;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0444444;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0222222;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.211111;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.12;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.264085;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.170455;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.2;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.002;db_xref=,GeneID:5318|HGNC:HGNC:9024|MIM:602861;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001005242.2|Genbank:NM_004572.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,plakophilin_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,PKP2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,PKP2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARVD9;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,plakophilin_2|_transcript_variant_2a|plakophilin_2|_transcript_variant_2b;transcript_id=,NM_001005242.2|NM_004572.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=PKP2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PKP2:NM_001005242:exon4:c.T1097C:p.L366P,PKP2:NM_004572:exon4:c.T1097C:p.L366P;cytoBand=12p11.21;genomicSuperDups=.;esp6500siv2_all=0.2201;esp6500siv2_ea=0.2301;esp6500siv2_all=0.2201;esp6500siv2_ea=0.2301;1000g2015aug_all=0.151358;avsnp147=rs1046116;Kaviar_AF=0.183161;Kaviar_AC=28317;Kaviar_AN=154602;ExAC_ALL=0.1800;ExAC_AFR=0.1981;ExAC_AMR=0.1187;ExAC_EAS=0.0297;ExAC_FIN=0.1921;ExAC_NFE=0.2099;ExAC_OTH=0.2070;ExAC_SAS=0.1633;CLNALLELEID=54173;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1836906,OMIM:609040|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.413;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.148;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.78;MutationAssessor_pred=N;FATHMM_score=0.83;FATHMM_pred=T;PROVEAN_score=1.04;PROVEAN_pred=N;VEST3_score=0.114;CADD_raw=0.112;CADD_phred=3.732;DANN_score=0.241;fathmm-MKL_coding_score=0.007;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.029;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.732;integrated_confidence_value=0;GERP++_RS=4.19;phyloP7way_vertebrate=0.024;phyloP20way_mammalian=0.065;phastCons7way_vertebrate=0.157;phastCons20way_mammalian=0.000;SiPhy_29way_logOdds=4.800;GDI_full_10282015=.;dpsi_max_tissue=0.0075;dpsi_zscore=0.051;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM150226#"Arrhythmogenic_right_ventricular_cardiomyopathy";gnomAD_exome_ALL=0.1805;gnomAD_exome_AFR=0.1983;gnomAD_exome_AMR=0.1262;gnomAD_exome_ASJ=0.1695;gnomAD_exome_EAS=0.0296;gnomAD_exome_FIN=0.1937;gnomAD_exome_NFE=0.2200;gnomAD_exome_OTH=0.1918;gnomAD_exome_SAS=0.1638;gnomAD_genome_ALL=0.1976;gnomAD_genome_AFR=0.1977;gnomAD_genome_AMR=0.1599;gnomAD_genome_ASJ=0.2086;gnomAD_genome_EAS=0.0308;gnomAD_genome_FIN=0.1875;gnomAD_genome_NFE=0.2192;gnomAD_genome_OTH=0.2088;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . 1:58:0,26 1:82:0,36 1:79:0,37 . . . . 1:87:0,46 . 1:57:0,29 1:74:0,37 1:72:0,33 . . . . . . 1:103:0,52 1:58:0,28 1:72:0,32 . . . . 1:48:0,26 1:66:0,32 . 1/1:73:0,73 . . . . 1:75:0,35 . 1:51:0,27 12 33031023 45085;rs62001016 G A 200.00 . #_unique_end_positions=,47;#_unique_start_positions=,50;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0408;AF_ESP_clinvar_20171029_hg19=,0.0105;AF_EXAC_clinvar_20171029_hg19=,0.00305;AF_TGP_clinvar_20171029_hg19=,0.0116;ALLELEID_clinvar_20171029_hg19=,54252;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0058;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001005242.2:p.Ala264Val|_NP_004563.2:p.Ala264Val;Amino_acid_change_in_longest_transcript=,NP_004563.2:p.Ala264Val;BaseQRankSum=,-0.39;CAF_dbsnp_common_v150_hg19_refseq=,0.9884|0.01158;CLNDISDB_clinvar_20171029_hg19=,MedGen:C0349788|Orphanet:ORPHA247|SNOMED_CT:253528005|SNOMED_CT:281170005|MedGen:C1836906|OMIM:609040|MedGen:CN169374|MedGen:CN239181;CLNDN_clinvar_20171029_hg19=,Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy|_type_9|not_specified|Cardiomyopathy|_ARVC;CLNHGVS_clinvar_20171029_hg19=,NC_000012.11:g.33031023G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:583065;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001005242.2:c.791C>T|_NM_004572.3:c.791C>T;Coding_region_change_in_longest_transcript=,NM_004572.3:c.791C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,127;GENEINFO_dbsnp_common_v150_hg19_refseq=,PKP2:5318;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:5318;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:5318;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:9024;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:9024;Homo_sapiens_refseq_GRCh37.p13_Genes=,PKP2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001005242.2|NM_004572.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene25281;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna36668|rna36669;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:602861;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:602861;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene25281;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,33031023;RS_dbsnp_common_v150_hg19_refseq=,62001016;Read_count=,101;Read_coverage=,224;Read_direction_test_probability=,0.9835388401089715;Read_position_test_probability=,0.7416152516062516;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001005242.2|NM_004572.3;Reverse_read_coverage=,97;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0;SF=9;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.984408|0.0155917;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050028000a05140536000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.001;db_xref=,GeneID:5318|HGNC:HGNC:9024|MIM:602861;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001005242.2|Genbank:NM_004572.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,plakophilin_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,PKP2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,PKP2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARVD9;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,plakophilin_2|_transcript_variant_2a|plakophilin_2|_transcript_variant_2b;transcript_id=,NM_001005242.2|NM_004572.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=PKP2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PKP2:NM_001005242:exon3:c.C791T:p.A264V,PKP2:NM_004572:exon3:c.C791T:p.A264V;cytoBand=12p11.21;genomicSuperDups=.;esp6500siv2_all=0.0105;esp6500siv2_ea=.;esp6500siv2_all=0.0105;esp6500siv2_ea=.;1000g2015aug_all=0.0115815;avsnp147=rs62001016;Kaviar_AF=0.0030013;Kaviar_AC=464;Kaviar_AN=154602;ExAC_ALL=0.0030;ExAC_AFR=0.0334;ExAC_AMR=0.0009;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=9.006e-05;ExAC_OTH=0.0056;ExAC_SAS=6.056e-05;CLNALLELEID=54252;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1836906,OMIM:609040|MedGen:CN169374|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.131;SIFT_pred=T;Polyphen2_HDIV_score=0.034;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.036;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0.69;MutationAssessor_pred=N;FATHMM_score=-1.39;FATHMM_pred=T;PROVEAN_score=-0.63;PROVEAN_pred=N;VEST3_score=0.081;CADD_raw=0.514;CADD_phred=7.536;DANN_score=0.661;fathmm-MKL_coding_score=0.132;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.889;MetaSVM_pred=T;MetaLR_score=0.122;MetaLR_pred=T;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=3.84;phyloP7way_vertebrate=-0.290;phyloP20way_mammalian=0.040;phastCons7way_vertebrate=0.046;phastCons20way_mammalian=0.000;SiPhy_29way_logOdds=10.832;GDI_full_10282015=.;dpsi_max_tissue=-0.0273;dpsi_zscore=-0.149;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0024;gnomAD_exome_AFR=0.0339;gnomAD_exome_AMR=0.0012;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0001;gnomAD_exome_OTH=0.0005;gnomAD_exome_SAS=9.746e-05;gnomAD_genome_ALL=0.0096;gnomAD_genome_AFR=0.0334;gnomAD_genome_AMR=0.0036;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . 1:202:0,94 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 12 33031309 45081;rs139139859 T C 200.00 . #_unique_end_positions=,41;#_unique_start_positions=,40;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0;AF_ESP_clinvar_20171029_hg19=,0.0016;AF_EXAC_clinvar_20171029_hg19=,0.00122;AF_TGP_clinvar_20171029_hg19=,0.0002;ALLELEID_clinvar_20171029_hg19=,54248;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0;AN=1;Amino_acid_change=,NP_004563.2:p.Ser169Gly|_NP_001005242.2:p.Ser169Gly;Amino_acid_change_in_longest_transcript=,NP_004563.2:p.Ser169Gly;BaseQRankSum=,-0.27;CLNDISDB_clinvar_20171029_hg19=,MedGen:C0349788|Orphanet:ORPHA247|SNOMED_CT:253528005|SNOMED_CT:281170005|MedGen:C1836906|OMIM:609040|MedGen:CN169374|MedGen:CN517202;CLNDN_clinvar_20171029_hg19=,Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy|_type_9|not_specified|not_provided;CLNHGVS_clinvar_20171029_hg19=,NC_000012.11:g.33031309T>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_conflicting_interpretations;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,UniProtKB_(protein):Q99959#VAR_065706;Coding_region_change=,NM_001005242.2:c.505A>G|_NM_004572.3:c.505A>G;Coding_region_change_in_longest_transcript=,NM_004572.3:c.505A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.001;Exact_match=,clinvar_20171029_hg19|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,19;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:5318;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:5318;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:9024;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:9024;Homo_sapiens_refseq_GRCh37.p13_Genes=,PKP2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001005242.2|NM_004572.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene25281;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna36668|rna36669;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:602861;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:602861;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene25281;QUAL=,200.0;Read_count=,78;Read_coverage=,138;Read_direction_test_probability=,0.9638111525743152;Read_position_test_probability=,0.9956986140920727;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001005242.2|NM_004572.3;Reverse_read_coverage=,119;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0;SF=0;conservation_score=,0.0;db_xref=,GeneID:5318|HGNC:HGNC:9024|MIM:602861;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001005242.2|Genbank:NM_004572.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,plakophilin_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,PKP2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,PKP2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARVD9;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,plakophilin_2|_transcript_variant_2a|plakophilin_2|_transcript_variant_2b;transcript_id=,NM_001005242.2|NM_004572.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=PKP2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PKP2:NM_001005242:exon3:c.A505G:p.S169G,PKP2:NM_004572:exon3:c.A505G:p.S169G;cytoBand=12p11.21;genomicSuperDups=.;esp6500siv2_all=0.0016;esp6500siv2_ea=0.0019;esp6500siv2_all=0.0016;esp6500siv2_ea=0.0019;1000g2015aug_all=0.000199681;avsnp147=rs139139859;Kaviar_AF=0.0010996;Kaviar_AC=170;Kaviar_AN=154602;ExAC_ALL=0.0012;ExAC_AFR=0.0002;ExAC_AMR=0.0004;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0015;ExAC_OTH=0.0022;ExAC_SAS=0.0024;CLNALLELEID=54248;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1836906,OMIM:609040|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.297;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.043;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=-1.35;FATHMM_pred=T;PROVEAN_score=-0.91;PROVEAN_pred=N;VEST3_score=0.686;CADD_raw=0.338;CADD_phred=6.055;DANN_score=0.937;fathmm-MKL_coding_score=0.010;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.874;MetaSVM_pred=T;MetaLR_score=0.248;MetaLR_pred=T;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=-1.54;phyloP7way_vertebrate=-0.490;phyloP20way_mammalian=-0.592;phastCons7way_vertebrate=0.022;phastCons20way_mammalian=0.026;SiPhy_29way_logOdds=8.679;GDI_full_10282015=.;dpsi_max_tissue=0.1598;dpsi_zscore=0.639;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM105193#"Arrhythmogenic_right_ventricular_cardiomyopathy";gnomAD_exome_ALL=0.0012;gnomAD_exome_AFR=0.0004;gnomAD_exome_AMR=0.0005;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=8.994e-05;gnomAD_exome_NFE=0.0017;gnomAD_exome_OTH=0.0004;gnomAD_exome_SAS=0.0023;gnomAD_genome_ALL=0.0006;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0013;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:DP:CLCAD2 1:129:0,72 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 12 33049457 45057;rs75909145 C A 200.00 . #_unique_end_positions=,43;#_unique_start_positions=,37;AC=4;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0008;AF_ESP_clinvar_20171029_hg19=,0.0186;AF_EXAC_clinvar_20171029_hg19=,0.02423;AF_TGP_clinvar_20171029_hg19=,0.0132;ALLELEID_clinvar_20171029_hg19=,54224;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0245;AN=4;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001005242.2:p.Ser70Ile|_NP_004563.2:p.Ser70Ile;Amino_acid_change_in_longest_transcript=,NP_004563.2:p.Ser70Ile;BaseQRankSum=,-0.95;CAF_dbsnp_common_v150_hg19_refseq=,0.9868|0.01318|.;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1836906|OMIM:609040|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNDN_clinvar_20171029_hg19=,Arrhythmogenic_right_ventricular_cardiomyopathy|_type_9|not_specified|Cardiovascular_phenotype|Cardiomyopathy|_ARVC;CLNHGVS_clinvar_20171029_hg19=,NC_000012.11:g.33049457C>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:89562|UniProtKB_(protein):Q99959#VAR_065704;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001005242.2:c.209G>T|_NM_004572.3:c.209G>T;Coding_region_change_in_longest_transcript=,NM_004572.3:c.209G>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.001;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0189;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,85;GENEINFO_dbsnp_common_v150_hg19_refseq=,PKP2:5318;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:5318;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:5318;Genotype=,A/C;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:9024;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:9024;Homo_sapiens_refseq_GRCh37.p13_Genes=,PKP2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001005242.2|NM_004572.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene25281;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna36668|rna36669;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:602861;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:602861;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene25281;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,33049457;RS_dbsnp_common_v150_hg19_refseq=,75909145;Read_count=,82;Read_coverage=,152;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9872396800469831;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001005242.2|NM_004572.3;Reverse_read_coverage=,67;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0286;SF=17,26,34,41;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.985782|0.014218|.;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050068000a05140036100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.935;db_xref=,GeneID:5318|HGNC:HGNC:9024|MIM:602861;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001005242.2|Genbank:NM_004572.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,plakophilin_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,PKP2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,PKP2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARVD9;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,plakophilin_2|_transcript_variant_2a|plakophilin_2|_transcript_variant_2b;transcript_id=,NM_001005242.2|NM_004572.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=PKP2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PKP2:NM_001005242:exon1:c.G209T:p.S70I,PKP2:NM_004572:exon1:c.G209T:p.S70I;cytoBand=12p11.21;genomicSuperDups=.;esp6500siv2_all=0.0186;esp6500siv2_ea=0.0261;esp6500siv2_all=0.0186;esp6500siv2_ea=0.0261;1000g2015aug_all=0.0131789;avsnp147=rs75909145;Kaviar_AF=0.0189131;Kaviar_AC=2924;Kaviar_AN=154602;ExAC_ALL=0.0242;ExAC_AFR=0.0060;ExAC_AMR=0.0145;ExAC_EAS=0.0003;ExAC_FIN=0.0189;ExAC_NFE=0.0289;ExAC_OTH=0.0226;ExAC_SAS=0.0431;CLNALLELEID=54224;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1836906,OMIM:609040|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.008;SIFT_pred=D;Polyphen2_HDIV_score=0.294;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.116;Polyphen2_HVAR_pred=B;LRT_score=0.859;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=1.7;MutationAssessor_pred=L;FATHMM_score=-1.41;FATHMM_pred=T;PROVEAN_score=-2.09;PROVEAN_pred=N;VEST3_score=0.256;CADD_raw=3.446;CADD_phred=23.0;DANN_score=0.987;fathmm-MKL_coding_score=0.633;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.737;MetaSVM_pred=T;MetaLR_score=0.187;MetaLR_pred=T;integrated_fitCons_score=0.652;integrated_confidence_value=0;GERP++_RS=3.17;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.826;phastCons7way_vertebrate=0.320;phastCons20way_mammalian=0.949;SiPhy_29way_logOdds=7.581;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0212;gnomAD_exome_AFR=0.0047;gnomAD_exome_AMR=0.0123;gnomAD_exome_ASJ=0.0402;gnomAD_exome_EAS=0.0004;gnomAD_exome_FIN=0.0160;gnomAD_exome_NFE=0.0260;gnomAD_exome_OTH=0.0227;gnomAD_exome_SAS=0.0284;gnomAD_genome_ALL=0.0184;gnomAD_genome_AFR=0.0037;gnomAD_genome_AMR=0.0203;gnomAD_genome_ASJ=0.0364;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0129;gnomAD_genome_NFE=0.0297;gnomAD_genome_OTH=0.0204;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . 1:143:0,76 . . . . . . . . 1:95:0,47 . . . . . . . 1:134:0,56 . . . . . . 1:78:0,42 12 98926856 44673;rs139700737 G A 200.00 . #_unique_end_positions=,46;#_unique_start_positions=,40;AC=2;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0;AF_ESP_clinvar_20171029_hg19=,0.0029;AF_EXAC_clinvar_20171029_hg19=,0.00235;AF_TGP_clinvar_20171029_hg19=,0.0018;ALLELEID_clinvar_20171029_hg19=,53840;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0014;AN=2;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_003267.1:p.Arg274Lys;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.56;CAF_dbsnp_common_v150_hg19_refseq=,0.9982|0.001797;CLNDISDB_clinvar_20171029_hg19=,MedGen:C2674876|OMIM:610168|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNDN_clinvar_20171029_hg19=,Loeys-Dietz_syndrome_2|not_specified|Cardiovascular_phenotype|not_provided;CLNHGVS_clinvar_20171029_hg19=,NC_000012.11:g.98926856G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001032283.2:c.565+1240G>A|_NM_001032284.2:c.565+1240G>A|_NM_001307975.1:c.565+1240G>A|_NM_003276.2:c.821G>A;Coding_region_change_in_longest_transcript=,NM_001032283.2:c.565+1240G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.003;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,74;GENEINFO_dbsnp_common_v150_hg19_refseq=,TMPO:7112;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7112;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7112;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:11875;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:11875;Homo_sapiens_refseq_GRCh37.p13_Genes=,TMPO;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003276.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene26175;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna38019;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant|SO:0001627|intron_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188380;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188380;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene26175;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,98926856;RS_dbsnp_common_v150_hg19_refseq=,139700737;Read_count=,77;Read_coverage=,145;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9994756385124401;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003276.2;Reverse_read_coverage=,71;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0051;SF=15,34;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.993612|0.0063878;U5_dbsnp_common_v150_hg19_refseq=,U5;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050028480a05040036000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.977;db_xref=,GeneID:7112|HGNC:HGNC:11875|MIM:188380;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:01777;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003276.2|HPRD:01777;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,thymopoietin;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TMPO;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TMPO;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1T|LAP2|LEMD4|PRO0868|TP;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,thymopoietin|_transcript_variant_1;transcript_id=,NM_003276.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TMPO;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TMPO:NM_003276:exon4:c.G821A:p.R274K;cytoBand=12q23.1;genomicSuperDups=.;esp6500siv2_all=0.0029;esp6500siv2_ea=0.0041;esp6500siv2_all=0.0029;esp6500siv2_ea=0.0041;1000g2015aug_all=0.00179712;avsnp147=rs139700737;Kaviar_AF=0.002542;Kaviar_AC=393;Kaviar_AN=154602;ExAC_ALL=0.0023;ExAC_AFR=0.0014;ExAC_AMR=0.0029;ExAC_EAS=0;ExAC_FIN=0.0011;ExAC_NFE=0.0030;ExAC_OTH=0.0022;ExAC_SAS=0.0017;CLNALLELEID=53840;CLNDN=Loeys-Dietz_syndrome_2|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C2674876,OMIM:610168|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=0.764;SIFT_pred=T;Polyphen2_HDIV_score=0.002;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.004;Polyphen2_HVAR_pred=B;LRT_score=0.152;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=0.345;MutationAssessor_pred=N;FATHMM_score=1.68;FATHMM_pred=T;PROVEAN_score=0.3;PROVEAN_pred=N;VEST3_score=0.059;CADD_raw=-0.439;CADD_phred=0.311;DANN_score=0.575;fathmm-MKL_coding_score=0.534;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.049;MetaSVM_pred=T;MetaLR_score=0.028;MetaLR_pred=T;integrated_fitCons_score=0.672;integrated_confidence_value=0;GERP++_RS=2.57;phyloP7way_vertebrate=0.069;phyloP20way_mammalian=0.953;phastCons7way_vertebrate=0.260;phastCons20way_mammalian=0.976;SiPhy_29way_logOdds=8.300;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0028;gnomAD_exome_AFR=0.0011;gnomAD_exome_AMR=0.0031;gnomAD_exome_ASJ=0.0053;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0011;gnomAD_exome_NFE=0.0039;gnomAD_exome_OTH=0.0029;gnomAD_exome_SAS=0.0014;gnomAD_genome_ALL=0.0021;gnomAD_genome_AFR=0.0009;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0006;gnomAD_genome_NFE=0.0033;gnomAD_genome_OTH=0.0041;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:DP:CLCAD2 . . . . . . . . . . . . . . . 1:132:0,69 . . . . . . . . . . . . . . . . . . 1:135:0,68 . . . . . . . 12 98927523 44664 A G 200.00 . #_unique_end_positions=,47;#_unique_start_positions=,39;AC=1;AF_ESP_clinvar_20171029_hg19=,0.0001;AF_EXAC_clinvar_20171029_hg19=,0.00004;ALLELEID_clinvar_20171029_hg19=,53831;AN=1;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.29;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000012.11:g.98927523A>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_single_submitter;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;Coding_region_change=,NM_001032283.2:c.565+1907A>G|_NM_001032284.2:c.565+1907A>G|_NM_001307975.1:c.565+1907A>G|_NM_003276.2:c.1488A>G;Coding_region_change_in_longest_transcript=,NM_001032283.2:c.565+1907A>G;Exact_match=,clinvar_20171029_hg19;Forward_read_coverage=,115;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7112;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7112;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:11875;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:11875;Homo_sapiens_refseq_GRCh37.p13_Genes=,TMPO;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003276.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene26175;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna38019;MC_clinvar_20171029_hg19=,SO:0001627|intron_variant|SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188380;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188380;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene26175;QUAL=,200.0;Read_count=,79;Read_coverage=,157;Read_direction_test_probability=,0.9961187242363931;Read_position_test_probability=,0.9188268902752798;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003276.2;Reverse_read_coverage=,42;SF=40;conservation_score=,1.0;db_xref=,GeneID:7112|HGNC:HGNC:11875|MIM:188380;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:01777;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003276.2|HPRD:01777;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,thymopoietin;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TMPO;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TMPO;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1T|LAP2|LEMD4|PRO0868|TP;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,thymopoietin|_transcript_variant_1;transcript_id=,NM_003276.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TMPO;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TMPO:NM_003276:exon4:c.A1488G:p.E496E;cytoBand=12q23.1;genomicSuperDups=.;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=.;avsnp147=rs372248802;Kaviar_AF=3.23e-05;Kaviar_AC=5;Kaviar_AN=154602;ExAC_ALL=4.122e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=7.495e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=53831;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=2.845e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=6.276e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:149:0,75 . 12 98927830 44667;rs17459334 C G 200.00 . #_unique_end_positions=,43;#_unique_start_positions=,43;AC=14;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.003;AF_ESP_clinvar_20171029_hg19=,0.0711;AF_EXAC_clinvar_20171029_hg19=,0.08753;AF_TGP_clinvar_20171029_hg19=,0.0589;ALLELEID_clinvar_20171029_hg19=,53834;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0403;AN=14;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_003267.1:p.Gln599Glu;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.15;CAF_dbsnp_common_v150_hg19_refseq=,0.9411|0.05891;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNDN_clinvar_20171029_hg19=,not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant;CLNHGVS_clinvar_20171029_hg19=,NC_000012.11:g.98927830C>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:11217|UniProtKB_(protein):P42166#VAR_005635;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001032283.2:c.565+2214C>G|_NM_001032284.2:c.565+2214C>G|_NM_001307975.1:c.565+2214C>G|_NM_003276.2:c.1795C>G;Coding_region_change_in_longest_transcript=,NM_001032283.2:c.565+2214C>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.001;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1093;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,74;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TMPO:7112;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7112;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7112;Genotype=,C/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:11875;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:11875;Homo_sapiens_refseq_GRCh37.p13_Genes=,TMPO;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003276.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene26175;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna38019;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant|SO:0001627|intron_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188380;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188380;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene26175;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,98927830;RS_dbsnp_common_v150_hg19_refseq=,17459334;Read_count=,70;Read_coverage=,144;Read_direction_test_probability=,0.9759409100855486;Read_position_test_probability=,0.9503712175654819;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003276.2;Reverse_read_coverage=,70;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1554;SF=1,2,3,10,11,17,21,22,26,27,29,35,36;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.944193|0.0558074;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050328080a0515053f000101;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.110169;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:7112|HGNC:HGNC:11875|MIM:188380;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:01777;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003276.2|HPRD:01777;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,thymopoietin;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TMPO;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TMPO;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1T|LAP2|LEMD4|PRO0868|TP;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,thymopoietin|_transcript_variant_1;transcript_id=,NM_003276.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TMPO;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TMPO:NM_003276:exon4:c.C1795G:p.Q599E;cytoBand=12q23.1;genomicSuperDups=.;esp6500siv2_all=0.0711;esp6500siv2_ea=0.0965;esp6500siv2_all=0.0711;esp6500siv2_ea=0.0965;1000g2015aug_all=0.0589058;avsnp147=rs17459334;Kaviar_AF=0.0845397;Kaviar_AC=13070;Kaviar_AN=154602;ExAC_ALL=0.0875;ExAC_AFR=0.0162;ExAC_AMR=0.0403;ExAC_EAS=0.0005;ExAC_FIN=0.1034;ExAC_NFE=0.0989;ExAC_OTH=0.0958;ExAC_SAS=0.1595;CLNALLELEID=53834;CLNDN=not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.1;SIFT_pred=T;Polyphen2_HDIV_score=0.919;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.45;Polyphen2_HVAR_pred=P;LRT_score=0.054;LRT_pred=N;MutationTaster_score=0.511;MutationTaster_pred=P;MutationAssessor_score=0.695;MutationAssessor_pred=N;FATHMM_score=0.24;FATHMM_pred=T;PROVEAN_score=-0.13;PROVEAN_pred=N;VEST3_score=0.218;CADD_raw=1.914;CADD_phred=15.67;DANN_score=0.983;fathmm-MKL_coding_score=0.819;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.063;MetaSVM_pred=T;MetaLR_score=0.004;MetaLR_pred=T;integrated_fitCons_score=0.672;integrated_confidence_value=0;GERP++_RS=5.96;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.996;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=15.922;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0862;gnomAD_exome_AFR=0.0149;gnomAD_exome_AMR=0.0403;gnomAD_exome_ASJ=0.1079;gnomAD_exome_EAS=0.0008;gnomAD_exome_FIN=0.1001;gnomAD_exome_NFE=0.0986;gnomAD_exome_OTH=0.0841;gnomAD_exome_SAS=0.1584;gnomAD_genome_ALL=0.0686;gnomAD_genome_AFR=0.0190;gnomAD_genome_AMR=0.0489;gnomAD_genome_ASJ=0.0767;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.1085;gnomAD_genome_NFE=0.0957;gnomAD_genome_OTH=0.0804;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 . 1:131:0,65 1:110:0,61 1:149:0,85 . . . . . . 1:175:0,83 1:112:0,52 . . . . . 1:151:0,71 . . . 1:188:0,100 1:184:0,89 . . . 1:151:0,78 1/1:166:0,166 . 1:158:0,77 . . . . . 1:124:0,61 1:136:0,72 . . . . . 12 98928161 310775;rs541571206 TA T 133.07 . #_unique_end_positions=,17;#_unique_start_positions=,16;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0;AF_EXAC_clinvar_20171029_hg19=,0.00372;AF_TGP_clinvar_20171029_hg19=,0.0010;ALLELEID_clinvar_20171029_hg19=,318752;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0;AN=1;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-1.2;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN239310;CLNDN_clinvar_20171029_hg19=,Dilated_Cardiomyopathy|_Dominant;CLNHGVS_clinvar_20171029_hg19=,NC_000012.11:g.98928162delA;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_single_submitter;CLNVCSO_clinvar_20171029_hg19=,SO:0000159;CLNVC_clinvar_20171029_hg19=,Deletion;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:496522;Coding_region_change=,NM_001032283.2:c.565+2546del|_NM_001032284.2:c.565+2546del|_NM_001307975.1:c.565+2546del|_NM_003276.2:c.*42del;Coding_region_change_in_longest_transcript=,NM_001032283.2:c.565+2546del;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.002;Exact_match=,clinvar_20171029_hg19|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,17;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7112;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7112;Genotype=,-/A;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:11875;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:11875;Homo_sapiens_refseq_GRCh37.p13_Genes=,TMPO;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003276.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene26175;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna38019;MC_clinvar_20171029_hg19=,SO:0001624|3_prime_UTR_variant|SO:0001627|intron_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:188380;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:188380;Non-synonymous=,-;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene26175;QUAL=,133.07206800076384;Read_count=,21;Read_coverage=,48;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.7077003335995418;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003276.2;Reverse_read_coverage=,31;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0031;SF=26;Start_by_3'_rule=,98928161;conservation_score=,0.0;db_xref=,GeneID:7112|HGNC:HGNC:11875|MIM:188380;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:01777;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003276.2|HPRD:01777;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,thymopoietin;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TMPO;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TMPO;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1T|LAP2|LEMD4|PRO0868|TP;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,thymopoietin|_transcript_variant_1;transcript_id=,NM_003276.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR3;Gene.refGene=TMPO;GeneDetail.refGene=NM_003276:c.*42delA;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=12q23.1;genomicSuperDups=.;esp6500siv2_all=0.0029;esp6500siv2_ea=0.0037;esp6500siv2_all=0.0029;esp6500siv2_ea=0.0037;1000g2015aug_all=0.000998403;avsnp147=rs541571206;Kaviar_AF=0.0001294;Kaviar_AC=20;Kaviar_AN=154602;ExAC_ALL=0.0037;ExAC_AFR=0.0007;ExAC_AMR=0.0032;ExAC_EAS=0;ExAC_FIN=0.0009;ExAC_NFE=0.0050;ExAC_OTH=0.0046;ExAC_SAS=0.0039;CLNALLELEID=318752;CLNDN=Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:CN239310;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0037;gnomAD_exome_AFR=0.0006;gnomAD_exome_AMR=0.0034;gnomAD_exome_ASJ=0.0064;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0007;gnomAD_exome_NFE=0.0046;gnomAD_exome_OTH=0.0043;gnomAD_exome_SAS=0.0046;gnomAD_genome_ALL=0.0026;gnomAD_genome_AFR=0.0005;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0011;gnomAD_genome_NFE=0.0044;gnomAD_genome_OTH=0.0061;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . 1:45:0,20 . . . . . . . . . . . . . . . 12 111353556 31771;rs2301610 A G 153.73 . #_unique_end_positions=,13;#_unique_start_positions=,13;AC=7;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0522;AF_ESP_clinvar_20171029_hg19=,0.0764;AF_EXAC_clinvar_20171029_hg19=,0.10247;AF_TGP_clinvar_20171029_hg19=,0.1152;ALLELEID_clinvar_20171029_hg19=,40431;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0317;AN=7;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.8848|0.1152;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|not_provided;CLNHGVS_clinvar_20171029_hg19=,NC_000012.11:g.111353556A>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:11652|Leiden_Muscular_Dystrophy_pages_(MYL2):MYL2_00015;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000432.3:c.132T>C;Coding_region_change_in_longest_transcript=,NM_000432.3:c.132T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2024;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0895;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,21;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,MYL2:4633;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:4633;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:4633;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:7583;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:7583;Homo_sapiens_refseq_GRCh37.p13_Genes=,MYL2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_000432.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene26352;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna38339;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:160781;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:160781;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene26352;QUAL=,100.28254527562001;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,111353556;RS_dbsnp_common_v150_hg19_refseq=,2301610;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,18;Read_coverage=,40;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.8073566530603669;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_000432.3;Reverse_read_coverage=,19;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1963;SF=5,8,10,22,24,31,39;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.925574|0.0744264;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050368000305150537100100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.0510204;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.075;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.125;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.229412;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.215909;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.211111;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.166667;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.0333333;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.0204082;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.025;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.0681818;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.05;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.991;db_xref=,GeneID:4633|HGNC:HGNC:7583|MIM:160781;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_000432.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,myosin_light_chain_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MYL2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MYL2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMH10|MLC-2s/v|MLC2;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,myosin_light_chain_2;transcript_id=,NM_000432.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYL2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYL2:NM_000432:exon3:c.T132C:p.I44I;cytoBand=12q24.11;genomicSuperDups=.;esp6500siv2_all=0.0764;esp6500siv2_ea=0.0801;esp6500siv2_all=0.0764;esp6500siv2_ea=0.0801;1000g2015aug_all=0.115216;avsnp147=rs2301610;Kaviar_AF=0.099643;Kaviar_AC=15405;Kaviar_AN=154602;ExAC_ALL=0.1025;ExAC_AFR=0.0716;ExAC_AMR=0.0339;ExAC_EAS=0.2256;ExAC_FIN=0.1178;ExAC_NFE=0.0848;ExAC_OTH=0.1002;ExAC_SAS=0.1711;CLNALLELEID=40431;CLNDN=Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_10|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1834460,OMIM:608758|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1694;dpsi_zscore=0.660;hgmdCODING=HGMD::Cardiomyopathy,_hypertrophic#22429680;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1005;gnomAD_exome_AFR=0.0687;gnomAD_exome_AMR=0.0381;gnomAD_exome_ASJ=0.0353;gnomAD_exome_EAS=0.2365;gnomAD_exome_FIN=0.1174;gnomAD_exome_NFE=0.0873;gnomAD_exome_OTH=0.0840;gnomAD_exome_SAS=0.1675;gnomAD_genome_ALL=0.0931;gnomAD_genome_AFR=0.0700;gnomAD_genome_AMR=0.0513;gnomAD_genome_ASJ=0.0464;gnomAD_genome_EAS=0.2432;gnomAD_genome_FIN=0.1064;gnomAD_genome_NFE=0.0908;gnomAD_genome_OTH=0.0898;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . 1:33:0,14 . . 1:48:0,24 . 1:69:0,30 . . . . . . . . . . . 1:43:0,24 . 1:58:0,37 . . . . . . 1:34:0,18 . . . . . . . 1:48:0,24 . . 12 112888247 . TAAAAG T 200.00 . #_unique_end_positions=,22;#_unique_start_positions=,18;AC=1;AN=1;Amino_acid_change=,NP_542168.1:p.Lys89fs|_NP_001317366.1:p.Lys89fs|_NP_002825.3:p.Lys89fs;Amino_acid_change_in_longest_transcript=,NP_001317366.1:p.Lys89fs;BaseQRankSum=,0.87;Coding_region_change=,NM_001330437.1:c.265_269del|_NM_002834.4:c.265_269del|_NM_080601.2:c.265_269del;Coding_region_change_in_longest_transcript=,NM_001330437.1:c.265_269del;Forward_read_coverage=,34;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:5781;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:5781;Genotype=,complex;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:9644;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:9644;Homo_sapiens_refseq_GRCh37.p13_Genes=,PTPN11;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_080601.2|NM_001330437.1|NM_002834.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene26386;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna38394|rna38392|rna38393;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:176876;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:176876;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene26386;QUAL=,200.0;Read_count=,27;Read_coverage=,63;Read_direction_test_probability=,0.9088942404813687;Read_position_test_probability=,0.8531143292604049;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_080601.2|NM_001330437.1|NM_002834.4;Reverse_read_coverage=,29;SF=1;Start_by_3'_rule=,112888248;Symbols_by_3'_rule=,112888248:_AAAGA;conservation_score=,0.953;db_xref=,GeneID:5781|HGNC:HGNC:9644|MIM:176876;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_080601.2|Genbank:NM_001330437.1|Genbank:NM_002834.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_tyrosine_phosphatase|_non-receptor_type_11;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,PTPN11;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,PTPN11;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,BPTP3|CFC|JMML|METCDS|NS1|PTP-1D|PTP2C|SH-PTP2|SH-PTP3|SHP2;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,protein_tyrosine_phosphatase|_non-receptor_type_11|_transcript_variant_2|protein_tyrosine_phosphatase|_non-receptor_type_11|_transcript_variant_3|protein_tyrosine_phosphatase|_non-receptor_type_11|_transcript_variant_1;transcript_id=,NM_080601.2|NM_001330437.1|NM_002834.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=PTPN11;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=PTPN11:NM_002834:exon3:c.264_268del:p.L88fs,PTPN11:NM_080601:exon3:c.264_268del:p.L88fs;cytoBand=12q24.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . 1:52:0,22 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 12 112926885 . C A 149.84 . #_unique_end_positions=,27;#_unique_start_positions=,28;AC=2;AN=2;Amino_acid_change=,NP_001317366.1:p.Ser506*|_NP_002825.3:p.Ser502*;Amino_acid_change_in_longest_transcript=,NP_001317366.1:p.Ser506*;BaseQRankSum=,-0.2;Coding_region_change=,NM_001330437.1:c.1517C>A|_NM_002834.4:c.1505C>A;Coding_region_change_in_longest_transcript=,NM_001330437.1:c.1517C>A;Forward_read_coverage=,42;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:5781;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:5781;Genotype=,A/C;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:9644;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:9644;Homo_sapiens_refseq_GRCh37.p13_Genes=,PTPN11;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001330437.1|NM_002834.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene26386;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna38392|rna38393;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:176876;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:176876;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene26386;QUAL=,200.0;Read_count=,51;Read_coverage=,115;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.8821863771497584;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001330437.1|NM_002834.4;Reverse_read_coverage=,73;SF=23,38;conservation_score=,1.0;db_xref=,GeneID:5781|HGNC:HGNC:9644|MIM:176876;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001330437.1|Genbank:NM_002834.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_tyrosine_phosphatase|_non-receptor_type_11;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,PTPN11;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,PTPN11;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,BPTP3|CFC|JMML|METCDS|NS1|PTP-1D|PTP2C|SH-PTP2|SH-PTP3|SHP2;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,protein_tyrosine_phosphatase|_non-receptor_type_11|_transcript_variant_3|protein_tyrosine_phosphatase|_non-receptor_type_11|_transcript_variant_1;transcript_id=,NM_001330437.1|NM_002834.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=PTPN11;GeneDetail.refGene=.;ExonicFunc.refGene=stopgain;AAChange.refGene=PTPN11:NM_002834:exon13:c.C1505A:p.S502X;cytoBand=12q24.13;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=A;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=13.471;CADD_phred=42;DANN_score=0.994;fathmm-MKL_coding_score=0.988;fathmm-MKL_coding_pred=D;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=0.722;integrated_confidence_value=0;GERP++_RS=5.13;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=18.936;GDI_full_10282015=.;dpsi_max_tissue=-30.9567;dpsi_zscore=-3.368;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=12 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . 1:94:0,41 . . . . . . . . . . . . . . 1:55:0,19 . . . 12 114837349 213813;rs77357563 C A 200.00 . #_unique_end_positions=,23;#_unique_start_positions=,19;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0;AF_ESP_clinvar_20171029_hg19=,0.0034;AF_EXAC_clinvar_20171029_hg19=,0.00340;AF_TGP_clinvar_20171029_hg19=,0.0022;ALLELEID_clinvar_20171029_hg19=,210214;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0072;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_852259.1:p.Asp111Tyr|_NP_000183.2:p.Asp111Tyr|_NP_542448.1:p.Asp61Tyr;Amino_acid_change_in_longest_transcript=,NP_000183.2:p.Asp111Tyr;BaseQRankSum=,-0.22;CAF_dbsnp_common_v150_hg19_refseq=,0.9978|0.002196;CLNDISDB_clinvar_20171029_hg19=,MedGen:C0265264|OMIM:142900|SNOMED_CT:19092004|MedGen:C3542024|OMIM:614823|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNDN_clinvar_20171029_hg19=,Holt-Oram_syndrome|Aortic_valve_disease_2|not_specified|Cardiovascular_phenotype|not_provided;CLNHGVS_clinvar_20171029_hg19=,NC_000012.11:g.114837349C>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:79456;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000192.3:c.331G>T|_NM_080717.2:c.181G>T|_NM_181486.2:c.331G>T;Coding_region_change_in_longest_transcript=,NM_000192.3:c.331G>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.006;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,21;GENEINFO_dbsnp_common_v150_hg19_refseq=,TBX5:6910;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:6910;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:6910;Genotype=,A/C;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:11604;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:11604;Homo_sapiens_refseq_GRCh37.p13_Genes=,TBX5;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_181486.2|NM_080717.2|NM_000192.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene26415;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna38450|rna38448|rna38449;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:601620;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:601620;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene26415;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,114837349;RS_dbsnp_common_v150_hg19_refseq=,77357563;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,31;Read_coverage=,57;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9998898330598225;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_181486.2|NM_080717.2|NM_000192.3;Reverse_read_coverage=,36;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0;SF=26;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.995982|0.00401813;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050228000a05040436000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.962;db_xref=,GeneID:6910|HGNC:HGNC:11604|MIM:601620;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:03372;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_181486.2|HPRD:03372|Genbank:NM_080717.2|Genbank:NM_000192.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,T-box_5;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TBX5;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TBX5;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HOS;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,T-box_5|_transcript_variant_4|T-box_5|_transcript_variant_3|T-box_5|_transcript_variant_1;transcript_id=,NM_181486.2|NM_080717.2|NM_000192.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TBX5;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TBX5:NM_080717:exon3:c.G181T:p.D61Y,TBX5:NM_000192:exon4:c.G331T:p.D111Y,TBX5:NM_181486:exon4:c.G331T:p.D111Y;cytoBand=12q24.21;genomicSuperDups=.;esp6500siv2_all=0.0034;esp6500siv2_ea=0.0049;esp6500siv2_all=0.0034;esp6500siv2_ea=0.0049;1000g2015aug_all=0.00219649;avsnp147=rs77357563;Kaviar_AF=0.0034864;Kaviar_AC=539;Kaviar_AN=154602;ExAC_ALL=0.0034;ExAC_AFR=0.0009;ExAC_AMR=0.0055;ExAC_EAS=0;ExAC_FIN=0.0005;ExAC_NFE=0.0049;ExAC_OTH=0.0022;ExAC_SAS=0.0003;CLNALLELEID=210214;CLNDN=Holt-Oram_syndrome|Aortic_valve_disease_2|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C0265264,OMIM:142900,SNOMED_CT:19092004|MedGen:C3542024,OMIM:614823|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.86;MutationAssessor_pred=M;FATHMM_score=-2.7;FATHMM_pred=D;PROVEAN_score=-7.69;PROVEAN_pred=D;VEST3_score=0.936;CADD_raw=7.484;CADD_phred=34;DANN_score=0.995;fathmm-MKL_coding_score=0.949;fathmm-MKL_coding_pred=D;MetaSVM_score=0.786;MetaSVM_pred=D;MetaLR_score=0.823;MetaLR_pred=D;integrated_fitCons_score=0.598;integrated_confidence_value=0;GERP++_RS=4.74;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.991;phastCons20way_mammalian=0.645;SiPhy_29way_logOdds=18.282;GDI_full_10282015=.;dpsi_max_tissue=-0.1240;dpsi_zscore=-0.517;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM072073#"Holt-Oram_syndrome";gnomAD_exome_ALL=0.0034;gnomAD_exome_AFR=0.0008;gnomAD_exome_AMR=0.0064;gnomAD_exome_ASJ=0.0001;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0009;gnomAD_exome_NFE=0.0049;gnomAD_exome_OTH=0.0049;gnomAD_exome_SAS=0.0003;gnomAD_genome_ALL=0.0027;gnomAD_genome_AFR=0.0006;gnomAD_genome_AMR=0.0036;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0046;gnomAD_genome_OTH=0.0081;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . 1:54:0,29 . . . . . . . . . . . . . . . 14 23852497 258715;rs17091278 T C 200.00 . #_unique_end_positions=,21;#_unique_start_positions=,22;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2920;AF_ESP_clinvar_20171029_hg19=,0.0841;AF_EXAC_clinvar_20171029_hg19=,0.02667;AF_TGP_clinvar_20171029_hg19=,0.0849;ALLELEID_clinvar_20171029_hg19=,254914;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0202;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.46;CAF_dbsnp_common_v150_hg19_refseq=,0.9151|0.08486;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C0018817|Orphanet:ORPHA1478|MedGen:C2750467|OMIM:613251|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Atrial_septal_defect|Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant;CLNHGVS_clinvar_20171029_hg19=,NC_000014.8:g.23852497T>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:100839;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_002471.3:c.5598A>G;Coding_region_change_in_longest_transcript=,NM_002471.3:c.5598A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0159;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0040;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,37;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,MYH6:4624;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:4624;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:4624;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:7576;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:7576;Homo_sapiens_refseq_GRCh37.p13_Genes=,MYH6;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_002471.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene28092;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna40292;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:160710;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:160710;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene28092;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,23852497;RS_dbsnp_common_v150_hg19_refseq=,17091278;Read_count=,32;Read_coverage=,73;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9951039843418137;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_002471.3;Reverse_read_coverage=,36;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0051;SF=12;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.891373|0.108627;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05012808030515013e000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.989;db_xref=,GeneID:4624|HGNC:HGNC:7576|MIM:160710;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_002471.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,myosin_heavy_chain_6;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MYH6;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MYH6;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,alpha-MHC|ASD3|CMD1EE|CMH14|MYHC|MYHCA|SSS3;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,myosin_heavy_chain_6;transcript_id=,NM_002471.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon37:c.A5598G:p.L1866L;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=0.0841;esp6500siv2_ea=0.0069;esp6500siv2_all=0.0841;esp6500siv2_ea=0.0069;1000g2015aug_all=0.0848642;avsnp147=rs17091278;Kaviar_AF=0.0258276;Kaviar_AC=3993;Kaviar_AN=154602;ExAC_ALL=0.0267;ExAC_AFR=0.2450;ExAC_AMR=0.0154;ExAC_EAS=0.0175;ExAC_FIN=0.0005;ExAC_NFE=0.0035;ExAC_OTH=0.0044;ExAC_SAS=0.0073;CLNALLELEID=254914;CLNDN=Atrial_septal_defect|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1715;dpsi_zscore=-0.628;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0220;gnomAD_exome_AFR=0.2505;gnomAD_exome_AMR=0.0160;gnomAD_exome_ASJ=0.0020;gnomAD_exome_EAS=0.0164;gnomAD_exome_FIN=0.0002;gnomAD_exome_NFE=0.0041;gnomAD_exome_OTH=0.0152;gnomAD_exome_SAS=0.0067;gnomAD_genome_ALL=0.0701;gnomAD_genome_AFR=0.2383;gnomAD_genome_AMR=0.0169;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0.0125;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0046;gnomAD_genome_OTH=0.0145;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 . . . . . . . . . . . . 1:68:0,31 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 14 23854155 44532;rs8004990 G A 200.00 . #_unique_end_positions=,58;#_unique_start_positions=,49;AC=5;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0204;AF_ESP_clinvar_20171029_hg19=,0.0873;AF_EXAC_clinvar_20171029_hg19=,0.07485;AF_TGP_clinvar_20171029_hg19=,0.0363;ALLELEID_clinvar_20171029_hg19=,53699;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0389;AN=5;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.14;CAF_dbsnp_common_v150_hg19_refseq=,0.9637|0.03634;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C0018817|Orphanet:ORPHA1478|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Atrial_septal_defect|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant;CLNHGVS_clinvar_20171029_hg19=,NC_000014.8:g.23854155G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:13044;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_002471.3:c.5259C>T;Coding_region_change_in_longest_transcript=,NM_002471.3:c.5259C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1014;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,81;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,MYH6:4624;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:4624;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:4624;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:7576;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:7576;Homo_sapiens_refseq_GRCh37.p13_Genes=,MYH6;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_002471.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene28092;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna40292;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:160710;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:160710;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene28092;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,23854155;RS_dbsnp_common_v150_hg19_refseq=,8004990;Read_count=,100;Read_coverage=,200;Read_direction_test_probability=,0.998292420028456;Read_position_test_probability=,0.9769818617351648;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_002471.3;Reverse_read_coverage=,119;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0256;SF=2,16,21,24,31;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.930284|0.0697163;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128080305150537000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0377358;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.044;db_xref=,GeneID:4624|HGNC:HGNC:7576|MIM:160710;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_002471.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,myosin_heavy_chain_6;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MYH6;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MYH6;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,alpha-MHC|ASD3|CMD1EE|CMH14|MYHC|MYHCA|SSS3;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,myosin_heavy_chain_6;transcript_id=,NM_002471.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon35:c.C5259T:p.A1753A;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=0.0873;esp6500siv2_ea=0.1158;esp6500siv2_all=0.0873;esp6500siv2_ea=0.1158;1000g2015aug_all=0.0363419;avsnp147=rs8004990;Kaviar_AF=0.0772823;Kaviar_AC=11948;Kaviar_AN=154602;ExAC_ALL=0.0749;ExAC_AFR=0.0320;ExAC_AMR=0.0321;ExAC_EAS=0;ExAC_FIN=0.0871;ExAC_NFE=0.1066;ExAC_OTH=0.0859;ExAC_SAS=0.0372;CLNALLELEID=53699;CLNDN=Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1333;dpsi_zscore=-0.542;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0757;gnomAD_exome_AFR=0.0298;gnomAD_exome_AMR=0.0352;gnomAD_exome_ASJ=0.1305;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0.0854;gnomAD_exome_NFE=0.1089;gnomAD_exome_OTH=0.0813;gnomAD_exome_SAS=0.0389;gnomAD_genome_ALL=0.0781;gnomAD_genome_AFR=0.0301;gnomAD_genome_AMR=0.0430;gnomAD_genome_ASJ=0.1722;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0899;gnomAD_genome_NFE=0.1111;gnomAD_genome_OTH=0.0878;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 . . 1:179:0,88 . . . . . . . . . . . . . 1:190:0,97 . . . . 1:244:0,112 . . 1:208:0,117 . . . . . . 1:112:0,52 . . . . . . . . . . 14 23855320 44528;rs382872 G A 200.00 . #_unique_end_positions=,56;#_unique_start_positions=,51;AC=5;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0212;AF_ESP_clinvar_20171029_hg19=,0.0877;AF_EXAC_clinvar_20171029_hg19=,0.07504;AF_TGP_clinvar_20171029_hg19=,0.0365;ALLELEID_clinvar_20171029_hg19=,53695;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0389;AN=5;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.9635|0.03654;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C0018817|Orphanet:ORPHA1478|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Atrial_septal_defect|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant;CLNHGVS_clinvar_20171029_hg19=,NC_000014.8:g.23855320G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:13073;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_002471.3:c.4980C>T;Coding_region_change_in_longest_transcript=,NM_002471.3:c.4980C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1014;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,64;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,MYH6:4624;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:4624;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:4624;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:7576;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:7576;Homo_sapiens_refseq_GRCh37.p13_Genes=,MYH6;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_002471.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene28092;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna40292;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:160710;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:160710;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene28092;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,23855320;RS_dbsnp_common_v150_hg19_refseq=,382872;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,87;Read_coverage=,221;Read_direction_test_probability=,0.86693973729284;Read_position_test_probability=,0.775515086100876;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_002471.3;Reverse_read_coverage=,157;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0256;SF=2,16,21,24,31;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.929872|0.0701284;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128080305150137000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.1;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.14;db_xref=,GeneID:4624|HGNC:HGNC:7576|MIM:160710;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_002471.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,myosin_heavy_chain_6;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MYH6;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MYH6;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,alpha-MHC|ASD3|CMD1EE|CMH14|MYHC|MYHCA|SSS3;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,myosin_heavy_chain_6;transcript_id=,NM_002471.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon34:c.C4980T:p.D1660D;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=0.0877;esp6500siv2_ea=0.1159;esp6500siv2_all=0.0877;esp6500siv2_ea=0.1159;1000g2015aug_all=0.0365415;avsnp147=rs382872;Kaviar_AF=0.0777868;Kaviar_AC=12026;Kaviar_AN=154602;ExAC_ALL=0.0750;ExAC_AFR=0.0324;ExAC_AMR=0.0327;ExAC_EAS=0;ExAC_FIN=0.0876;ExAC_NFE=0.1067;ExAC_OTH=0.0859;ExAC_SAS=0.0373;CLNALLELEID=53695;CLNDN=Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.9649;dpsi_zscore=-1.451;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0758;gnomAD_exome_AFR=0.0302;gnomAD_exome_AMR=0.0356;gnomAD_exome_ASJ=0.1304;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0.0855;gnomAD_exome_NFE=0.1090;gnomAD_exome_OTH=0.0815;gnomAD_exome_SAS=0.0389;gnomAD_genome_ALL=0.0782;gnomAD_genome_AFR=0.0306;gnomAD_genome_AMR=0.0442;gnomAD_genome_ASJ=0.1722;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0897;gnomAD_genome_NFE=0.1111;gnomAD_genome_OTH=0.0878;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 . . 1:217:0,87 . . . . . . . . . . . . . 1:225:0,91 . . . . 1:229:0,123 . . 1:302:0,159 . . . . . . 1:148:0,69 . . . . . . . . . . 14 23855569 44526;rs178640 A G 192.33 . #_unique_end_positions=,41;#_unique_start_positions=,39;AC=36;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7579;AF_EXAC_clinvar_20171029_hg19=,0.46489;AF_TGP_clinvar_20171029_hg19=,0.4928;ALLELEID_clinvar_20171029_hg19=,53693;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3718;AN=36;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.13;CAF_dbsnp_common_v150_hg19_refseq=,0.5072|0.4928;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C0018817|Orphanet:ORPHA1478|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Atrial_septal_defect|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant;CLNHGVS_clinvar_20171029_hg19=,NC_000014.8:g.23855569A>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,ARUP_Laboratories|_Molecular_Genetics_and_Genomics:49017|Illumina_Clinical_Services_Laboratory|Illumina:13030;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_002471.3:c.4914T>C;Coding_region_change_in_longest_transcript=,NM_002471.3:c.4914T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2569;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4891;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,93;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,MYH6:4624;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:4624;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:4624;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:7576;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:7576;Homo_sapiens_refseq_GRCh37.p13_Genes=,MYH6;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_002471.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene28092;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna40292;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:160710;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:160710;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene28092;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,23855569;RS_dbsnp_common_v150_hg19_refseq=,178640;Read_count=,74;Read_coverage=,156;Read_direction_test_probability=,0.6622667932956978;Read_position_test_probability=,0.8392388698654101;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_002471.3;Reverse_read_coverage=,63;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4673;SF=0,2,4,5,7,9,12,13,15,16,18,19,20,21,22,23,24,25,26,27,28,29,31,34,37,38,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.428429|0.571571;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128080305170136000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.0;db_xref=,GeneID:4624|HGNC:HGNC:7576|MIM:160710;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_002471.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,myosin_heavy_chain_6;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MYH6;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MYH6;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,alpha-MHC|ASD3|CMD1EE|CMH14|MYHC|MYHCA|SSS3;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,myosin_heavy_chain_6;transcript_id=,NM_002471.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon33:c.T4914C:p.A1638A;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=0.5532;esp6500siv2_ea=0.4855;esp6500siv2_all=0.5532;esp6500siv2_ea=0.4855;1000g2015aug_all=0.492812;avsnp147=rs178640;Kaviar_AF=0.433811;Kaviar_AC=67068;Kaviar_AN=154602;ExAC_ALL=0.4649;ExAC_AFR=0.7073;ExAC_AMR=0.2632;ExAC_EAS=0.2608;ExAC_FIN=0.4705;ExAC_NFE=0.4821;ExAC_OTH=0.4426;ExAC_SAS=0.4899;CLNALLELEID=53693;CLNDN=Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0452;dpsi_zscore=0.276;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.4527;gnomAD_exome_AFR=0.7131;gnomAD_exome_AMR=0.2738;gnomAD_exome_ASJ=0.5493;gnomAD_exome_EAS=0.2596;gnomAD_exome_FIN=0.4703;gnomAD_exome_NFE=0.4772;gnomAD_exome_OTH=0.4670;gnomAD_exome_SAS=0.4917;gnomAD_genome_ALL=0.5120;gnomAD_genome_AFR=0.6970;gnomAD_genome_AMR=0.3501;gnomAD_genome_ASJ=0.5497;gnomAD_genome_EAS=0.2512;gnomAD_genome_FIN=0.4728;gnomAD_genome_NFE=0.4524;gnomAD_genome_OTH=0.4693;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 1:146:0,70 . 1:186:0,77 . 1:157:0,68 1:202:0,95 . 1:194:0,74 . 1:212:0,104 . . 1:251:0,105 1/1:220:0,220 . 1:237:0,107 1/1:194:0,194 . 1/1:173:0,172 1:222:0,102 1:200:0,85 1/1:274:0,274 1:263:0,111 1/1:220:0,220 1:278:0,122 1:199:0,80 1:190:0,74 1:279:0,127 1:260:0,109 1:275:0,98 . 1:157:0,76 . . 1:226:0,103 . . 1/1:142:0,142 1/1:171:0,171 . 1:259:0,100 1/1:158:0,158 14 23855645 44522;rs61742476 A G 200.00 . #_unique_end_positions=,72;#_unique_start_positions=,71;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1604;AF_ESP_clinvar_20171029_hg19=,0.0155;AF_EXAC_clinvar_20171029_hg19=,0.01463;AF_TGP_clinvar_20171029_hg19=,0.0487;ALLELEID_clinvar_20171029_hg19=,53689;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0101;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_002462.2:p.Val1613Ala;Amino_acid_change_in_longest_transcript=,NP_002462.2:p.Val1613Ala;BaseQRankSum=,0.2;CAF_dbsnp_common_v150_hg19_refseq=,0.9513|0.04872;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C0018817|Orphanet:ORPHA1478|MedGen:C2750467|OMIM:613251|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Atrial_septal_defect|Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant;CLNHGVS_clinvar_20171029_hg19=,NC_000014.8:g.23855645A>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:100865;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_002471.3:c.4838T>C;Coding_region_change_in_longest_transcript=,NM_002471.3:c.4838T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0159;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0040;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,139;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,MYH6:4624;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:4624;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:4624;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:7576;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:7576;Homo_sapiens_refseq_GRCh37.p13_Genes=,MYH6;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_002471.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene28092;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna40292;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:160710;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:160710;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene28092;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,23855645;RS_dbsnp_common_v150_hg19_refseq=,61742476;Read_count=,137;Read_coverage=,283;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.43788143537800006;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_002471.3;Reverse_read_coverage=,144;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0051;SF=8;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.942819|0.0571811;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128080a0515013e000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:4624|HGNC:HGNC:7576|MIM:160710;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_002471.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,myosin_heavy_chain_6;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MYH6;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MYH6;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,alpha-MHC|ASD3|CMD1EE|CMH14|MYHC|MYHCA|SSS3;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,myosin_heavy_chain_6;transcript_id=,NM_002471.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon33:c.T4838C:p.V1613A;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=0.0155;esp6500siv2_ea=0.0019;esp6500siv2_all=0.0155;esp6500siv2_ea=0.0019;1000g2015aug_all=0.048722;avsnp147=rs61742476;Kaviar_AF=0.0029495;Kaviar_AC=456;Kaviar_AN=154602;ExAC_ALL=0.0146;ExAC_AFR=0.1179;ExAC_AMR=0.0081;ExAC_EAS=0.0155;ExAC_FIN=0.0005;ExAC_NFE=0.0031;ExAC_OTH=0.0022;ExAC_SAS=0.0070;CLNALLELEID=53689;CLNDN=Atrial_septal_defect|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.999;MutationTaster_pred=N;MutationAssessor_score=-2.655;MutationAssessor_pred=N;FATHMM_score=-1.03;FATHMM_pred=T;PROVEAN_score=2.59;PROVEAN_pred=N;VEST3_score=0.133;CADD_raw=1.714;CADD_phred=14.49;DANN_score=0.872;fathmm-MKL_coding_score=0.077;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.065;MetaSVM_pred=T;MetaLR_score=0.006;MetaLR_pred=T;integrated_fitCons_score=0.581;integrated_confidence_value=0;GERP++_RS=4.5;phyloP7way_vertebrate=0.024;phyloP20way_mammalian=0.076;phastCons7way_vertebrate=0.996;phastCons20way_mammalian=0.990;SiPhy_29way_logOdds=12.983;GDI_full_10282015=.;dpsi_max_tissue=-0.0436;dpsi_zscore=-0.236;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0109;gnomAD_exome_AFR=0.1081;gnomAD_exome_AMR=0.0082;gnomAD_exome_ASJ=0.0015;gnomAD_exome_EAS=0.0134;gnomAD_exome_FIN=0.0002;gnomAD_exome_NFE=0.0031;gnomAD_exome_OTH=0.0100;gnomAD_exome_SAS=0.0055;gnomAD_genome_ALL=0.0354;gnomAD_genome_AFR=0.1142;gnomAD_genome_AMR=0.0084;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0.0123;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0045;gnomAD_genome_OTH=0.0081;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 . . . . . . . . 1:268:0,132 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 14 23858232 44501;rs451794 C T 200.00 . #_unique_end_positions=,53;#_unique_start_positions=,41;AC=7;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0083;AF_ESP_clinvar_20171029_hg19=,0.0859;AF_EXAC_clinvar_20171029_hg19=,0.07657;AF_TGP_clinvar_20171029_hg19=,0.0347;ALLELEID_clinvar_20171029_hg19=,53668;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0432;AN=7;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.73;CAF_dbsnp_common_v150_hg19_refseq=,0.9653|0.03474;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C0018817|Orphanet:ORPHA1478|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Atrial_septal_defect|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant;CLNHGVS_clinvar_20171029_hg19=,NC_000014.8:g.23858232C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:13105;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_002471.3:c.4011G>A;Coding_region_change_in_longest_transcript=,NM_002471.3:c.4011G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1064;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,123;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,MYH6:4624|MIR208A:406990;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:4624;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:4624;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:7576;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:7576;Homo_sapiens_refseq_GRCh37.p13_Genes=,MYH6;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_002471.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene28092;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna40292;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:160710;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:160710;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene28092;QUAL=,200.0;R5_dbsnp_common_v150_hg19_refseq=,R5;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,23858232;RS_dbsnp_common_v150_hg19_refseq=,451794;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,92;Read_coverage=,168;Read_direction_test_probability=,0.969768295883845;Read_position_test_probability=,0.8648108513363598;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_002471.3;Reverse_read_coverage=,45;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0266;SF=2,16,21,23,24,31,38;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.933409|0.0665911;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x0501280a0305150036000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.412;db_xref=,GeneID:4624|HGNC:HGNC:7576|MIM:160710;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_002471.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,myosin_heavy_chain_6;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MYH6;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MYH6;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,alpha-MHC|ASD3|CMD1EE|CMH14|MYHC|MYHCA|SSS3;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,myosin_heavy_chain_6;transcript_id=,NM_002471.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon29:c.G4011A:p.S1337S;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=0.0859;esp6500siv2_ea=0.1172;esp6500siv2_all=0.0859;esp6500siv2_ea=0.1172;1000g2015aug_all=0.0347444;avsnp147=rs451794;Kaviar_AF=0.0789964;Kaviar_AC=12213;Kaviar_AN=154602;ExAC_ALL=0.0766;ExAC_AFR=0.0234;ExAC_AMR=0.0382;ExAC_EAS=0.0001;ExAC_FIN=0.0816;ExAC_NFE=0.1103;ExAC_OTH=0.0865;ExAC_SAS=0.0382;CLNALLELEID=53668;CLNDN=Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.2992;dpsi_zscore=-0.852;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0772;gnomAD_exome_AFR=0.0221;gnomAD_exome_AMR=0.0400;gnomAD_exome_ASJ=0.1447;gnomAD_exome_EAS=0.0003;gnomAD_exome_FIN=0.0815;gnomAD_exome_NFE=0.1116;gnomAD_exome_OTH=0.0830;gnomAD_exome_SAS=0.0394;gnomAD_genome_ALL=0.0783;gnomAD_genome_AFR=0.0235;gnomAD_genome_AMR=0.0492;gnomAD_genome_ASJ=0.1887;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0840;gnomAD_genome_NFE=0.1166;gnomAD_genome_OTH=0.0854;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 . . 1:166:0,91 . . . . . . . . . . . . . 1:217:0,116 . . . . 1:195:0,106 . 1:208:0,93 1:245:0,133 . . . . . . 1:91:0,47 . . . . . . 1:146:0,60 . . . 14 23859610 44483;rs28730771 C T 200.00 . #_unique_end_positions=,62;#_unique_start_positions=,54;AC=5;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0098;AF_EXAC_clinvar_20171029_hg19=,0.10033;AF_TGP_clinvar_20171029_hg19=,0.0729;ALLELEID_clinvar_20171029_hg19=,53650;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1210;AN=5;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_002462.2:p.Ala1130Thr;Amino_acid_change_in_longest_transcript=,NP_002462.2:p.Ala1130Thr;BaseQRankSum=,0.01;CAF_dbsnp_common_v150_hg19_refseq=,0.9271|.|0.07288;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C0018817|Orphanet:ORPHA1478|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Atrial_septal_defect|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant;CLNHGVS_clinvar_20171029_hg19=,NC_000014.8:g.23859610C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:13068|UniProtKB_(protein):P13533#VAR_063555;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_002471.3:c.3388G>A;Coding_region_change_in_longest_transcript=,NM_002471.3:c.3388G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0605;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1352;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,123;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,MYH6:4624|MIR208A:406990;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:4624;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:4624;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:7576;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:7576;Homo_sapiens_refseq_GRCh37.p13_Genes=,MYH6;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_002471.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene28092;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna40292;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:160710;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:160710;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene28092;QUAL=,200.0;R5_dbsnp_common_v150_hg19_refseq=,R5;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,23859610;RS_dbsnp_common_v150_hg19_refseq=,28730771;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,151;Read_coverage=,298;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9833940360301896;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_002471.3;Reverse_read_coverage=,175;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0726;SF=9,13,18,21,26;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x0501280a0a05150536000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.861;db_xref=,GeneID:4624|HGNC:HGNC:7576|MIM:160710;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_002471.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,myosin_heavy_chain_6;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MYH6;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MYH6;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,alpha-MHC|ASD3|CMD1EE|CMH14|MYHC|MYHCA|SSS3;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,myosin_heavy_chain_6;transcript_id=,NM_002471.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon26:c.G3388A:p.A1130T;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.0728834;avsnp147=rs28730771;Kaviar_AF=0.091894;Kaviar_AC=14207;Kaviar_AN=154602;ExAC_ALL=0.1003;ExAC_AFR=0.0261;ExAC_AMR=0.0996;ExAC_EAS=0.0760;ExAC_FIN=0.0931;ExAC_NFE=0.1217;ExAC_OTH=0.0952;ExAC_SAS=0.0716;CLNALLELEID=53650;CLNDN=Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.328;SIFT_pred=T;Polyphen2_HDIV_score=0.891;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.713;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_pred=.;MutationTaster_score=0.004;MutationTaster_pred=P;MutationAssessor_score=1.9;MutationAssessor_pred=L;FATHMM_score=-1.66;FATHMM_pred=D;PROVEAN_score=-1.36;PROVEAN_pred=N;VEST3_score=0.275;CADD_raw=5.149;CADD_phred=25.4;DANN_score=0.999;fathmm-MKL_coding_score=0.644;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.877;MetaSVM_pred=T;MetaLR_score=0.010;MetaLR_pred=T;integrated_fitCons_score=0.497;integrated_confidence_value=0;GERP++_RS=3.35;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.013;phastCons7way_vertebrate=0.981;phastCons20way_mammalian=0.985;SiPhy_29way_logOdds=9.869;GDI_full_10282015=.;dpsi_max_tissue=0.2192;dpsi_zscore=0.759;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0941;gnomAD_exome_AFR=0.0213;gnomAD_exome_AMR=0.0941;gnomAD_exome_ASJ=0.0878;gnomAD_exome_EAS=0.0662;gnomAD_exome_FIN=0.0813;gnomAD_exome_NFE=0.1183;gnomAD_exome_OTH=0.1067;gnomAD_exome_SAS=0.0664;gnomAD_genome_ALL=0.0808;gnomAD_genome_AFR=0.0263;gnomAD_genome_AMR=0.1253;gnomAD_genome_ASJ=0.09;gnomAD_genome_EAS=0.0595;gnomAD_genome_FIN=0.0890;gnomAD_genome_NFE=0.1101;gnomAD_genome_OTH=0.0844;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-3 GT:DP:CLCAD2 . . . . . . . . . 1:266:0,141 . . . 1:376:0,165 . . . . 1:277:0,139 . . 1:297:0,139 . . . . 1:292:0,154 . . . . . . . . . . . . . . . 14 23859611 . G A 200.00 . #_unique_end_positions=,57;#_unique_start_positions=,52;AC=1;AN=1;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.43;Coding_region_change=,NM_002471.3:c.3387C>T;Coding_region_change_in_longest_transcript=,NM_002471.3:c.3387C>T;Forward_read_coverage=,118;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:4624;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:4624;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:7576;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:7576;Homo_sapiens_refseq_GRCh37.p13_Genes=,MYH6;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_002471.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene28092;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna40292;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:160710;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:160710;Non-synonymous=,No;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene28092;QUAL=,200.0;Read_count=,139;Read_coverage=,267;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.6182502203336768;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_002471.3;Reverse_read_coverage=,149;SF=4;conservation_score=,0.694;db_xref=,GeneID:4624|HGNC:HGNC:7576|MIM:160710;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_002471.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,myosin_heavy_chain_6;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MYH6;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MYH6;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,alpha-MHC|ASD3|CMD1EE|CMH14|MYHC|MYHCA|SSS3;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,myosin_heavy_chain_6;transcript_id=,NM_002471.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon26:c.C3387T:p.T1129T;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs759574705;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=1.876e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.704e-05;ExAC_OTH=0;ExAC_SAS=6.442e-05;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1812;dpsi_zscore=-0.649;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=8.297e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=1.834e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . 1:243:0,126 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 14 23861811 44480;rs365990 A G 128.69 . #_unique_end_positions=,26;#_unique_start_positions=,24;AC=34;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6437;AF_ESP_clinvar_20171029_hg19=,0.4556;AF_EXAC_clinvar_20171029_hg19=,0.34610;AF_TGP_clinvar_20171029_hg19=,0.3748;ALLELEID_clinvar_20171029_hg19=,53647;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2925;AN=34;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_002462.2:p.Val1101Ala;Amino_acid_change_in_longest_transcript=,NP_002462.2:p.Val1101Ala;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.6252|0.3748;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C0018817|Orphanet:ORPHA1478|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Atrial_septal_defect|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant;CLNHGVS_clinvar_20171029_hg19=,NC_000014.8:g.23861811A>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:13049|UniProtKB_(protein):P13533#VAR_030205;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_002471.3:c.3302T>C;Coding_region_change_in_longest_transcript=,NM_002471.3:c.3302T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1597;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3489;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,22;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,MYH6:4624;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:4624;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:4624;Genotype=,G/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:7576;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:7576;Homo_sapiens_refseq_GRCh37.p13_Genes=,MYH6;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_002471.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene28092;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna40292;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:160710;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:160710;MTP_dbsnp_common_v150_hg19_refseq=,MTP;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene28092;QUAL=,122.09749373405626;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,23861811;RS_dbsnp_common_v150_hg19_refseq=,365990;Read_count=,31;Read_coverage=,31;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_002471.3;Reverse_read_coverage=,9;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3180;SF=2,4,6,9,12,13,14,15,16,17,18,19,21,22,23,24,25,26,27,28,31,33,36,38,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.524864|0.475136;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128080a0515053f020100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.581633;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.314159;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.207317;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.176471;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.375;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.174419;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.133721;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.661111;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.23;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.664336;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.426136;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.654867;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.996;db_xref=,GeneID:4624|HGNC:HGNC:7576|MIM:160710;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_002471.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,myosin_heavy_chain_6;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MYH6;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MYH6;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,alpha-MHC|ASD3|CMD1EE|CMH14|MYHC|MYHCA|SSS3;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,myosin_heavy_chain_6;transcript_id=,NM_002471.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon25:c.T3302C:p.V1101A;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=0.4556;esp6500siv2_ea=0.3737;esp6500siv2_all=0.4556;esp6500siv2_ea=0.3737;1000g2015aug_all=0.3748;avsnp147=rs365990;Kaviar_AF=0.334659;Kaviar_AC=51739;Kaviar_AN=154602;ExAC_ALL=0.3461;ExAC_AFR=0.6294;ExAC_AMR=0.2201;ExAC_EAS=0.1673;ExAC_FIN=0.2713;ExAC_NFE=0.3635;ExAC_OTH=0.3455;ExAC_SAS=0.3092;CLNALLELEID=53647;CLNDN=Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-0.935;MutationAssessor_pred=N;FATHMM_score=-0.95;FATHMM_pred=T;PROVEAN_score=1.91;PROVEAN_pred=N;VEST3_score=0.021;CADD_raw=0.873;CADD_phred=9.908;DANN_score=0.808;fathmm-MKL_coding_score=0.005;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.949;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.422;integrated_confidence_value=0;GERP++_RS=4.69;phyloP7way_vertebrate=0.024;phyloP20way_mammalian=0.080;phastCons7way_vertebrate=0.938;phastCons20way_mammalian=0.980;SiPhy_29way_logOdds=9.475;GDI_full_10282015=.;dpsi_max_tissue=0.6208;dpsi_zscore=1.246;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM1010480#"Heart_rate_association_with";gnomAD_exome_ALL=0.3362;gnomAD_exome_AFR=0.6296;gnomAD_exome_AMR=0.2336;gnomAD_exome_ASJ=0.4545;gnomAD_exome_EAS=0.1652;gnomAD_exome_FIN=0.2656;gnomAD_exome_NFE=0.3631;gnomAD_exome_OTH=0.3574;gnomAD_exome_SAS=0.3100;gnomAD_genome_ALL=0.4187;gnomAD_genome_AFR=0.6294;gnomAD_genome_AMR=0.2805;gnomAD_genome_ASJ=0.5033;gnomAD_genome_EAS=0.1629;gnomAD_genome_FIN=0.2772;gnomAD_genome_NFE=0.3678;gnomAD_genome_OTH=0.3505;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 . . 1/1:31:0,31 . 1:28:0,14 . 1:25:0,10 . . 1:24:0,10 . . 1:39:0,18 1/1:37:0,37 1:52:0,21 1/1:38:0,38 1/1:40:0,40 1:48:0,27 1:21:0,10 1:30:0,12 . 1:50:0,22 1/1:52:0,52 1/1:47:0,47 1/1:53:0,53 1:41:0,22 1:46:0,18 1:33:0,22 1:53:0,20 . . 1:34:0,21 . 1:40:0,20 . . 1/1:32:0,32 . 1/1:27:0,27 . . 1:46:0,23 14 23862646 14151;rs143978652 C A 200.00 . #_unique_end_positions=,33;#_unique_start_positions=,33;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0009;AF_EXAC_clinvar_20171029_hg19=,0.00098;AF_TGP_clinvar_20171029_hg19=,0.0006;ALLELEID_clinvar_20171029_hg19=,29190;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0014;AN=1;Amino_acid_change=,NP_002462.2:p.Ala1004Ser;Amino_acid_change_in_longest_transcript=,NP_002462.2:p.Ala1004Ser;BaseQRankSum=,0.3;CLNDISDB_clinvar_20171029_hg19=,EFO:EFO_0000407|Human_Phenotype_Ontology:HP:0001644|MedGen:CN001497|Human_Phenotype_Ontology:HP:0001645|MedGen:C1968862|MedGen:C2750466|OMIM:613252|MedGen:C2750467|OMIM:613251|MedGen:CN169374|MedGen:CN230736;CLNDN_clinvar_20171029_hg19=,Dilated_cardiomyopathy|Sudden_cardiac_death|Dilated_cardiomyopathy_1EE|Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype;CLNHGVS_clinvar_20171029_hg19=,NC_000014.8:g.23862646C>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_conflicting_interpretations;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,HGMD:CM052257|OMIM_Allelic_Variant:160710.0006|UniProtKB_(protein):P13533#VAR_063553;Coding_region_change=,NM_002471.3:c.3010G>T;Coding_region_change_in_longest_transcript=,NM_002471.3:c.3010G>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0020;Exact_match=,clinvar_20171029_hg19|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,65;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:4624;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:4624;Genotype=,A/C;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:7576;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:7576;Homo_sapiens_refseq_GRCh37.p13_Genes=,MYH6;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_002471.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene28092;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna40292;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:160710;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:160710;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene28092;QUAL=,200.0;Read_count=,59;Read_coverage=,129;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.6224619581386373;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_002471.3;Reverse_read_coverage=,64;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=32;conservation_score=,1.0;db_xref=,GeneID:4624|HGNC:HGNC:7576|MIM:160710;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_002471.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,myosin_heavy_chain_6;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MYH6;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MYH6;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,alpha-MHC|ASD3|CMD1EE|CMH14|MYHC|MYHCA|SSS3;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,myosin_heavy_chain_6;transcript_id=,NM_002471.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon23:c.G3010T:p.A1004S;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=0.0009;esp6500siv2_ea=0.0013;esp6500siv2_all=0.0009;esp6500siv2_ea=0.0013;1000g2015aug_all=0.000599042;avsnp147=rs143978652;Kaviar_AF=0.0010479;Kaviar_AC=162;Kaviar_AN=154602;ExAC_ALL=0.0010;ExAC_AFR=0.0003;ExAC_AMR=0.0027;ExAC_EAS=0;ExAC_FIN=0.0006;ExAC_NFE=0.0012;ExAC_OTH=0.0011;ExAC_SAS=6.056e-05;CLNALLELEID=29190;CLNDN=Primary_dilated_cardiomyopathy|Sudden_cardiac_death|Wolff-Parkinson-White_pattern|Primary_familial_hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1EE|Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|Human_Phenotype_Ontology:HP:0001645,MedGen:C1968862|MedGen:C0043202,OMIM:194200,Orphanet:ORPHA907,SNOMED_CT:74390002|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C2750466,OMIM:613252|MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.026;SIFT_pred=D;Polyphen2_HDIV_score=0.024;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.035;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=A;MutationAssessor_score=1.72;MutationAssessor_pred=L;FATHMM_score=-1.67;FATHMM_pred=D;PROVEAN_score=-2.07;PROVEAN_pred=N;VEST3_score=0.741;CADD_raw=3.364;CADD_phred=22.9;DANN_score=0.995;fathmm-MKL_coding_score=0.903;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.232;MetaSVM_pred=T;MetaLR_score=0.472;MetaLR_pred=T;integrated_fitCons_score=0.497;integrated_confidence_value=0;GERP++_RS=5.12;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.860;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=0.999;SiPhy_29way_logOdds=15.307;GDI_full_10282015=.;dpsi_max_tissue=0.0089;dpsi_zscore=0.060;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM052257#"Cardiomyopathy_dilated";gnomAD_exome_ALL=0.0009;gnomAD_exome_AFR=0.0002;gnomAD_exome_AMR=0.0018;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0005;gnomAD_exome_NFE=0.0013;gnomAD_exome_OTH=0.0015;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0012;gnomAD_genome_AFR=0.0002;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0022;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:107:0,48 . . . . . . . . . 14 23866189 44461;rs76202964 G A 200.00 . #_unique_end_positions=,68;#_unique_start_positions=,62;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0076;AF_ESP_clinvar_20171029_hg19=,0.0106;AF_EXAC_clinvar_20171029_hg19=,0.02363;AF_TGP_clinvar_20171029_hg19=,0.0340;ALLELEID_clinvar_20171029_hg19=,53628;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0303;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.78;CAF_dbsnp_common_v150_hg19_refseq=,0.9661|0.03395;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C0018817|Orphanet:ORPHA1478|MedGen:C2750467|OMIM:613251|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Atrial_septal_defect|Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant;CLNHGVS_clinvar_20171029_hg19=,NC_000014.8:g.23866189G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:50889;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_002471.3:c.2151C>T;Coding_region_change_in_longest_transcript=,NM_002471.3:c.2151C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0694;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0189;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,121;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,MYH6:4624;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:4624;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:4624;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:7576;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:7576;Homo_sapiens_refseq_GRCh37.p13_Genes=,MYH6;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_002471.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene28092;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna40292;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:160710;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:160710;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene28092;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,23866189;RS_dbsnp_common_v150_hg19_refseq=,76202964;Read_count=,159;Read_coverage=,278;Read_direction_test_probability=,0.9998976516157048;Read_position_test_probability=,0.9920693866713671;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_002471.3;Reverse_read_coverage=,157;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0511;SF=18;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.98197|0.0180301;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050328000305150036000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.955;db_xref=,GeneID:4624|HGNC:HGNC:7576|MIM:160710;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_002471.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,myosin_heavy_chain_6;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MYH6;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MYH6;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,alpha-MHC|ASD3|CMD1EE|CMH14|MYHC|MYHCA|SSS3;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,myosin_heavy_chain_6;transcript_id=,NM_002471.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon18:c.C2151T:p.Y717Y;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=0.0106;esp6500siv2_ea=0.0127;esp6500siv2_all=0.0106;esp6500siv2_ea=0.0127;1000g2015aug_all=0.0339457;avsnp147=rs76202964;Kaviar_AF=0.021785;Kaviar_AC=3368;Kaviar_AN=154602;ExAC_ALL=0.0236;ExAC_AFR=0.0075;ExAC_AMR=0.0399;ExAC_EAS=0.0845;ExAC_FIN=0.0059;ExAC_NFE=0.0146;ExAC_OTH=0.0286;ExAC_SAS=0.0340;CLNALLELEID=53628;CLNDN=Atrial_septal_defect|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0212;dpsi_zscore=0.143;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0239;gnomAD_exome_AFR=0.0086;gnomAD_exome_AMR=0.0364;gnomAD_exome_ASJ=0.04;gnomAD_exome_EAS=0.0837;gnomAD_exome_FIN=0.0063;gnomAD_exome_NFE=0.0124;gnomAD_exome_OTH=0.0295;gnomAD_exome_SAS=0.0331;gnomAD_genome_ALL=0.0132;gnomAD_genome_AFR=0.0064;gnomAD_genome_AMR=0.0322;gnomAD_genome_ASJ=0.0331;gnomAD_genome_EAS=0.0771;gnomAD_genome_FIN=0.0077;gnomAD_genome_NFE=0.0097;gnomAD_genome_OTH=0.0173;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . 1:235:0,134 . . . . . . . . . . . . . . . . . . . . . . . 14 23869993 44451;rs61731179 G A 200.00 . #_unique_end_positions=,53;#_unique_start_positions=,45;AC=6;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0023;AF_ESP_clinvar_20171029_hg19=,0.0447;AF_EXAC_clinvar_20171029_hg19=,0.05441;AF_TGP_clinvar_20171029_hg19=,0.0322;ALLELEID_clinvar_20171029_hg19=,53618;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0403;AN=6;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.32;CAF_dbsnp_common_v150_hg19_refseq=,0.9679|0.03215;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C0018817|Orphanet:ORPHA1478|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Atrial_septal_defect|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant;CLNHGVS_clinvar_20171029_hg19=,NC_000014.8:g.23869993G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:13117;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_002471.3:c.1335C>T;Coding_region_change_in_longest_transcript=,NM_002471.3:c.1335C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0755;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,103;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,MYH6:4624;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:4624;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:4624;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:7576;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:7576;Homo_sapiens_refseq_GRCh37.p13_Genes=,MYH6;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_002471.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene28092;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna40292;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:160710;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:160710;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene28092;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,23869993;RS_dbsnp_common_v150_hg19_refseq=,61731179;Read_count=,95;Read_coverage=,213;Read_direction_test_probability=,0.8810581784326458;Read_position_test_probability=,0.6319794272684837;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_002471.3;Reverse_read_coverage=,110;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0552;SF=1,6,8,16,28,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.961261|0.0387389;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050328000305150136000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.888;db_xref=,GeneID:4624|HGNC:HGNC:7576|MIM:160710;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_002471.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,myosin_heavy_chain_6;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MYH6;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MYH6;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,alpha-MHC|ASD3|CMD1EE|CMH14|MYHC|MYHCA|SSS3;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,myosin_heavy_chain_6;transcript_id=,NM_002471.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon13:c.C1335T:p.N445N;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=0.0447;esp6500siv2_ea=0.0620;esp6500siv2_all=0.0447;esp6500siv2_ea=0.0620;1000g2015aug_all=0.0321486;avsnp147=rs61731179;Kaviar_AF=0.0529877;Kaviar_AC=8192;Kaviar_AN=154602;ExAC_ALL=0.0544;ExAC_AFR=0.0099;ExAC_AMR=0.0307;ExAC_EAS=0.0002;ExAC_FIN=0.0404;ExAC_NFE=0.0668;ExAC_OTH=0.0464;ExAC_SAS=0.0836;CLNALLELEID=53618;CLNDN=Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0098;dpsi_zscore=0.067;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0537;gnomAD_exome_AFR=0.0092;gnomAD_exome_AMR=0.0322;gnomAD_exome_ASJ=0.0807;gnomAD_exome_EAS=0.0003;gnomAD_exome_FIN=0.0469;gnomAD_exome_NFE=0.0639;gnomAD_exome_OTH=0.0654;gnomAD_exome_SAS=0.0860;gnomAD_genome_ALL=0.0386;gnomAD_genome_AFR=0.0114;gnomAD_genome_AMR=0.0251;gnomAD_genome_ASJ=0.0828;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0461;gnomAD_genome_NFE=0.0547;gnomAD_genome_OTH=0.0695;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 . 1:196:0,84 . . . . 1:165:0,66 . 1:219:0,99 . . . . . . . 1:235:0,108 . . . . . . . . . . . 1:309:0,145 . . . . . . . . . . . . 1:175:0,81 14 23871909 36634;rs78107039 G A 200.00 . #_unique_end_positions=,41;#_unique_start_positions=,32;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1256;AF_ESP_clinvar_20171029_hg19=,0.0401;AF_EXAC_clinvar_20171029_hg19=,0.02025;AF_TGP_clinvar_20171029_hg19=,0.0423;ALLELEID_clinvar_20171029_hg19=,45296;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0101;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.78;CAF_dbsnp_common_v150_hg19_refseq=,0.9577|0.04233;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C0018817|Orphanet:ORPHA1478|MedGen:C0878544|Orphanet:ORPHA167848|SNOMED_CT:85898001|MedGen:C2750467|OMIM:613251|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Atrial_septal_defect|Cardiomyopathy|Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant;CLNHGVS_clinvar_20171029_hg19=,NC_000014.8:g.23871909G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:13063;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_002471.3:c.999C>T;Coding_region_change_in_longest_transcript=,NM_002471.3:c.999C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0129;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,24;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,MYH6:4624;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:4624;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:4624;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:7576;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:7576;Homo_sapiens_refseq_GRCh37.p13_Genes=,MYH6;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_002471.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene28092;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna40292;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:160710;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:160710;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene28092;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,23871909;RS_dbsnp_common_v150_hg19_refseq=,78107039;Read_count=,67;Read_coverage=,139;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.7403189905416823;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_002471.3;Reverse_read_coverage=,115;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0266;SF=17;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.948279|0.0517206;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050368000305150536100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.245;db_xref=,GeneID:4624|HGNC:HGNC:7576|MIM:160710;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_002471.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,myosin_heavy_chain_6;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MYH6;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MYH6;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,alpha-MHC|ASD3|CMD1EE|CMH14|MYHC|MYHCA|SSS3;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,myosin_heavy_chain_6;transcript_id=,NM_002471.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon11:c.C999T:p.T333T;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=0.0401;esp6500siv2_ea=0.0087;esp6500siv2_all=0.0401;esp6500siv2_ea=0.0087;1000g2015aug_all=0.0423323;avsnp147=rs78107039;Kaviar_AF=0.0195728;Kaviar_AC=3026;Kaviar_AN=154602;ExAC_ALL=0.0203;ExAC_AFR=0.1057;ExAC_AMR=0.0192;ExAC_EAS=0;ExAC_FIN=0.0003;ExAC_NFE=0.0102;ExAC_OTH=0.0244;ExAC_SAS=0.0262;CLNALLELEID=45296;CLNDN=Atrial_septal_defect|Cardiomyopathy|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1411;dpsi_zscore=-0.560;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0180;gnomAD_exome_AFR=0.1014;gnomAD_exome_AMR=0.0188;gnomAD_exome_ASJ=0.0293;gnomAD_exome_EAS=5.798e-05;gnomAD_exome_FIN=0.0005;gnomAD_exome_NFE=0.0092;gnomAD_exome_OTH=0.0237;gnomAD_exome_SAS=0.0258;gnomAD_genome_ALL=0.0298;gnomAD_genome_AFR=0.0913;gnomAD_genome_AMR=0.0179;gnomAD_genome_ASJ=0.0232;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0061;gnomAD_genome_OTH=0.0143;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . 1:130:0,64 . . . . . . . . . . . . . . . . . . . . . . . . 14 23873940 44541;rs142027794 C T 200.00 . #_unique_end_positions=,32;#_unique_start_positions=,27;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0008;AF_ESP_clinvar_20171029_hg19=,0.0049;AF_EXAC_clinvar_20171029_hg19=,0.00550;AF_TGP_clinvar_20171029_hg19=,0.0020;ALLELEID_clinvar_20171029_hg19=,53708;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0043;AN=1;Amino_acid_change=,NP_002462.2:p.Asp208Asn;Amino_acid_change_in_longest_transcript=,NP_002462.2:p.Asp208Asn;BaseQRankSum=,-0.79;CLNDISDB_clinvar_20171029_hg19=,MedGen:C2750467|OMIM:613251|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Familial_hypertrophic_cardiomyopathy_14|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000014.8:g.23873940C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;Coding_region_change=,NM_002471.3:c.622G>A;Coding_region_change_in_longest_transcript=,NM_002471.3:c.622G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0050;Exact_match=,clinvar_20171029_hg19|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,36;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:4624;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:4624;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:7576;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:7576;Homo_sapiens_refseq_GRCh37.p13_Genes=,MYH6;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_002471.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene28092;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna40292;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:160710;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:160710;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene28092;QUAL=,200.0;Read_count=,47;Read_coverage=,105;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9327390525762917;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_002471.3;Reverse_read_coverage=,69;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;SF=28;conservation_score=,1.0;db_xref=,GeneID:4624|HGNC:HGNC:7576|MIM:160710;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_002471.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,myosin_heavy_chain_6;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MYH6;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MYH6;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,alpha-MHC|ASD3|CMD1EE|CMH14|MYHC|MYHCA|SSS3;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,myosin_heavy_chain_6;transcript_id=,NM_002471.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon7:c.G622A:p.D208N;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=0.0049;esp6500siv2_ea=0.0069;esp6500siv2_all=0.0049;esp6500siv2_ea=0.0069;1000g2015aug_all=0.00199681;avsnp147=rs142027794;Kaviar_AF=0.0053686;Kaviar_AC=830;Kaviar_AN=154602;ExAC_ALL=0.0055;ExAC_AFR=0.0014;ExAC_AMR=0.0022;ExAC_EAS=0.0001;ExAC_FIN=0.0005;ExAC_NFE=0.0082;ExAC_OTH=0.0044;ExAC_SAS=0.0042;CLNALLELEID=53708;CLNDN=Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.072;SIFT_pred=T;Polyphen2_HDIV_score=0.006;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.063;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.967;MutationTaster_pred=D;MutationAssessor_score=0.47;MutationAssessor_pred=N;FATHMM_score=-0.57;FATHMM_pred=T;PROVEAN_score=-1.25;PROVEAN_pred=N;VEST3_score=0.05;CADD_raw=3.478;CADD_phred=23.1;DANN_score=0.998;fathmm-MKL_coding_score=0.764;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.796;MetaSVM_pred=T;MetaLR_score=0.152;MetaLR_pred=T;integrated_fitCons_score=0.497;integrated_confidence_value=0;GERP++_RS=3.42;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.794;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=0.999;SiPhy_29way_logOdds=13.909;GDI_full_10282015=.;dpsi_max_tissue=-4.4518;dpsi_zscore=-2.418;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM165004#"Atrioventricular_septum_defect";gnomAD_exome_ALL=0.0048;gnomAD_exome_AFR=0.0014;gnomAD_exome_AMR=0.0024;gnomAD_exome_ASJ=0.0008;gnomAD_exome_EAS=5.798e-05;gnomAD_exome_FIN=0.0004;gnomAD_exome_NFE=0.0080;gnomAD_exome_OTH=0.0057;gnomAD_exome_SAS=0.0046;gnomAD_genome_ALL=0.0035;gnomAD_genome_AFR=0.0013;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0006;gnomAD_genome_NFE=0.0058;gnomAD_genome_OTH=0.0061;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:95:0,44 . . . . . . . . . . . . . 14 23874507 44507;rs2277473 G T 196.32 . #_unique_end_positions=,67;#_unique_start_positions=,61;AC=12;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0129;AF_ESP_clinvar_20171029_hg19=,0.0809;AF_EXAC_clinvar_20171029_hg19=,0.09507;AF_TGP_clinvar_20171029_hg19=,0.0777;ALLELEID_clinvar_20171029_hg19=,53674;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0850;AN=12;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.82;CAF_dbsnp_common_v150_hg19_refseq=,0.9223|.|.|0.07768;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C0018817|Orphanet:ORPHA1478|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Atrial_septal_defect|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant;CLNHGVS_clinvar_20171029_hg19=,NC_000014.8:g.23874507G>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:13097;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_002471.3:c.427C>A;Coding_region_change_in_longest_transcript=,NM_002471.3:c.427C>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0675;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1044;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,136;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,MYH6:4624;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:4624;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:4624;Genotype=,G/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:7576;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:7576;Homo_sapiens_refseq_GRCh37.p13_Genes=,MYH6;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_002471.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene28092;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna40292;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:160710;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:160710;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene28092;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,23874507;RS_dbsnp_common_v150_hg19_refseq=,2277473;Read_count=,129;Read_coverage=,280;Read_direction_test_probability=,0.9998643414949071;Read_position_test_probability=,0.9861133330583399;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_002471.3;Reverse_read_coverage=,144;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1431;SF=4,15,19,22,23,28,31,34,36,38,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.921767|.|.|0.0782334;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050328000305150537000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.0204082;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0848214;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.0487805;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.0411765;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.16092;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0930233;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0465116;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.00581395;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.0918367;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.126437;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0133929;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:4624|HGNC:HGNC:7576|MIM:160710;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_002471.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,myosin_heavy_chain_6;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MYH6;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MYH6;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,alpha-MHC|ASD3|CMD1EE|CMH14|MYHC|MYHCA|SSS3;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,myosin_heavy_chain_6;transcript_id=,NM_002471.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon5:c.C427A:p.R143R;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=0.0809;esp6500siv2_ea=0.1095;esp6500siv2_all=0.0809;esp6500siv2_ea=0.1095;1000g2015aug_all=0.0776757;avsnp147=rs2277473;Kaviar_AF=0.0926443;Kaviar_AC=14323;Kaviar_AN=154602;ExAC_ALL=0.0951;ExAC_AFR=0.0200;ExAC_AMR=0.0621;ExAC_EAS=0.0562;ExAC_FIN=0.0920;ExAC_NFE=0.1055;ExAC_OTH=0.0837;ExAC_SAS=0.1455;CLNALLELEID=53674;CLNDN=Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.0699;dpsi_zscore=-1.511;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0959;gnomAD_exome_AFR=0.0193;gnomAD_exome_AMR=0.0697;gnomAD_exome_ASJ=0.1279;gnomAD_exome_EAS=0.0552;gnomAD_exome_FIN=0.0920;gnomAD_exome_NFE=0.1041;gnomAD_exome_OTH=0.1132;gnomAD_exome_SAS=0.1453;gnomAD_genome_ALL=0.0737;gnomAD_genome_AFR=0.0220;gnomAD_genome_AMR=0.0788;gnomAD_genome_ASJ=0.1523;gnomAD_genome_EAS=0.0525;gnomAD_genome_FIN=0.0910;gnomAD_genome_NFE=0.0996;gnomAD_genome_OTH=0.0818;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 . . . . 1:251:0,119 . . . . . . . . . . 1:362:0,185 . . . 1:305:0,153 . . 1/1:531:0,531 1:406:0,203 . . . . 1:464:0,223 . . 1:218:0,97 . . 1:291:0,146 . 1:285:0,130 . 1:273:0,157 . . 1:295:0,137 14 23874523 44504;rs2277474 C T 200.00 . #_unique_end_positions=,61;#_unique_start_positions=,59;AC=21;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1384;AF_ESP_clinvar_20171029_hg19=,0.2284;AF_EXAC_clinvar_20171029_hg19=,0.21033;AF_TGP_clinvar_20171029_hg19=,0.1544;ALLELEID_clinvar_20171029_hg19=,53671;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1513;AN=21;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.53;CAF_dbsnp_common_v150_hg19_refseq=,0.8456|0.1544;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C0018817|Orphanet:ORPHA1478|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Atrial_septal_defect|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant;CLNHGVS_clinvar_20171029_hg19=,NC_000014.8:g.23874523C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:13093;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_002471.3:c.411G>A;Coding_region_change_in_longest_transcript=,NM_002471.3:c.411G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0675;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2485;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,99;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,MYH6:4624;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:4624;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:4624;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:7576;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:7576;Homo_sapiens_refseq_GRCh37.p13_Genes=,MYH6;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_002471.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene28092;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna40292;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:160710;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:160710;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene28092;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,23874523;RS_dbsnp_common_v150_hg19_refseq=,2277474;Read_count=,141;Read_coverage=,267;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9798223323700059;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_002471.3;Reverse_read_coverage=,168;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1708;SF=2,4,13,15,16,19,21,22,23,24,27,28,31,34,36,38,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.789203|0.210797;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050328000305150537000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.163265;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.234513;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.0487805;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.0411765;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.204545;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0930233;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0465116;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.0944444;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.12;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.192308;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.289773;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.150442;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.987;db_xref=,GeneID:4624|HGNC:HGNC:7576|MIM:160710;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_002471.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,myosin_heavy_chain_6;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MYH6;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MYH6;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,alpha-MHC|ASD3|CMD1EE|CMH14|MYHC|MYHCA|SSS3;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,myosin_heavy_chain_6;transcript_id=,NM_002471.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon5:c.G411A:p.E137E;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=0.2284;esp6500siv2_ea=0.2608;esp6500siv2_all=0.2284;esp6500siv2_ea=0.2608;1000g2015aug_all=0.154353;avsnp147=rs2277474;Kaviar_AF=0.209881;Kaviar_AC=32448;Kaviar_AN=154602;ExAC_ALL=0.2103;ExAC_AFR=0.1607;ExAC_AMR=0.1136;ExAC_EAS=0.0563;ExAC_FIN=0.2141;ExAC_NFE=0.2607;ExAC_OTH=0.2015;ExAC_SAS=0.1855;CLNALLELEID=53671;CLNDN=Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.7987;dpsi_zscore=1.386;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2079;gnomAD_exome_AFR=0.1631;gnomAD_exome_AMR=0.1243;gnomAD_exome_ASJ=0.2999;gnomAD_exome_EAS=0.0554;gnomAD_exome_FIN=0.2118;gnomAD_exome_NFE=0.2581;gnomAD_exome_OTH=0.2333;gnomAD_exome_SAS=0.1876;gnomAD_genome_ALL=0.2169;gnomAD_genome_AFR=0.1728;gnomAD_genome_AMR=0.1492;gnomAD_genome_ASJ=0.3667;gnomAD_genome_EAS=0.0526;gnomAD_genome_FIN=0.2167;gnomAD_genome_NFE=0.2614;gnomAD_genome_OTH=0.2137;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 . . 1:242:0,126 . 1:241:0,107 . . . . . . . . 1:356:0,162 . 1/1:347:0,347 1:333:0,143 . . 1:289:0,137 . 1:344:0,138 1/1:529:0,529 1/1:397:0,397 1:335:0,163 . . 1:373:0,163 1:442:0,201 . . 1:210:0,90 . . 1:295:0,142 . 1:266:0,120 . 1/1:262:0,262 . . 1:299:0,136 14 23874541 44495;rs17277970 C T 200.00 . #_unique_end_positions=,61;#_unique_start_positions=,56;AC=6;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0552;AF_ESP_clinvar_20171029_hg19=,0.0803;AF_EXAC_clinvar_20171029_hg19=,0.06986;AF_TGP_clinvar_20171029_hg19=,0.0571;ALLELEID_clinvar_20171029_hg19=,53662;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0562;AN=6;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.18;CAF_dbsnp_common_v150_hg19_refseq=,0.9429|0.05711;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C0018817|Orphanet:ORPHA1478|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Atrial_septal_defect|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant;CLNHGVS_clinvar_20171029_hg19=,NC_000014.8:g.23874541C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:50739;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_002471.3:c.393G>A;Coding_region_change_in_longest_transcript=,NM_002471.3:c.393G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0179;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0696;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,89;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,MYH6:4624;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:4624;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:4624;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:7576;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:7576;Homo_sapiens_refseq_GRCh37.p13_Genes=,MYH6;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_002471.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene28092;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna40292;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:160710;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:160710;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene28092;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,23874541;RS_dbsnp_common_v150_hg19_refseq=,17277970;Read_count=,113;Read_coverage=,255;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9989348062712865;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_002471.3;Reverse_read_coverage=,166;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0879;SF=2,6,14,24,25,33;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.928601|0.0713991;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050328000305150137000101;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:4624|HGNC:HGNC:7576|MIM:160710;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_002471.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,myosin_heavy_chain_6;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MYH6;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MYH6;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,alpha-MHC|ASD3|CMD1EE|CMH14|MYHC|MYHCA|SSS3;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,myosin_heavy_chain_6;transcript_id=,NM_002471.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon5:c.G393A:p.L131L;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=0.0803;esp6500siv2_ea=0.0884;esp6500siv2_all=0.0803;esp6500siv2_ea=0.0884;1000g2015aug_all=0.0571086;avsnp147=rs17277970;Kaviar_AF=0.0691712;Kaviar_AC=10694;Kaviar_AN=154602;ExAC_ALL=0.0699;ExAC_AFR=0.0601;ExAC_AMR=0.0399;ExAC_EAS=0.0146;ExAC_FIN=0.0487;ExAC_NFE=0.0824;ExAC_OTH=0.0870;ExAC_SAS=0.0827;CLNALLELEID=53662;CLNDN=Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.3398;dpsi_zscore=0.946;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0683;gnomAD_exome_AFR=0.0563;gnomAD_exome_AMR=0.0418;gnomAD_exome_ASJ=0.1102;gnomAD_exome_EAS=0.0128;gnomAD_exome_FIN=0.0463;gnomAD_exome_NFE=0.0829;gnomAD_exome_OTH=0.0762;gnomAD_exome_SAS=0.0824;gnomAD_genome_ALL=0.0710;gnomAD_genome_AFR=0.0646;gnomAD_genome_AMR=0.0561;gnomAD_genome_ASJ=0.0927;gnomAD_genome_EAS=0.0099;gnomAD_genome_FIN=0.0512;gnomAD_genome_NFE=0.0862;gnomAD_genome_OTH=0.0723;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 . . 1:239:0,106 . . . 1:221:0,71 . . . . . . . 1:422:0,200 . . . . . . . . . 1:331:0,157 1:227:0,82 . . . . . . . 1:254:0,103 . . . . . . . . 14 23876267 44455;rs28711516 C T 200.00 . #_unique_end_positions=,38;#_unique_start_positions=,30;AC=6;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0545;AF_ESP_clinvar_20171029_hg19=,0.0802;AF_EXAC_clinvar_20171029_hg19=,0.06980;AF_TGP_clinvar_20171029_hg19=,0.0567;ALLELEID_clinvar_20171029_hg19=,53622;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0562;AN=6;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_002462.2:p.Gly56Arg;Amino_acid_change_in_longest_transcript=,NP_002462.2:p.Gly56Arg;BaseQRankSum=,0.24;CAF_dbsnp_common_v150_hg19_refseq=,0.9433|0.05671;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C0018817|Orphanet:ORPHA1478|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Atrial_septal_defect|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|not_provided;CLNHGVS_clinvar_20171029_hg19=,NC_000014.8:g.23876267C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:50760|UniProtKB_(protein):P13533#VAR_063550;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_002471.3:c.166G>A;Coding_region_change_in_longest_transcript=,NM_002471.3:c.166G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0179;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0696;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,57;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,MYH6:4624;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:4624;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:4624;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:7576;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:7576;Homo_sapiens_refseq_GRCh37.p13_Genes=,MYH6;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_002471.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene28092;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna40292;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:160710;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:160710;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene28092;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,23876267;RS_dbsnp_common_v150_hg19_refseq=,28711516;Read_count=,54;Read_coverage=,88;Read_direction_test_probability=,0.9985853280647211;Read_position_test_probability=,0.8778895441042016;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_002471.3;Reverse_read_coverage=,31;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0869;SF=2,6,14,24,25,33;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.928807|0.0711931;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050328000a05150536000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.987;db_xref=,GeneID:4624|HGNC:HGNC:7576|MIM:160710;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_002471.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,myosin_heavy_chain_6;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MYH6;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MYH6;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,alpha-MHC|ASD3|CMD1EE|CMH14|MYHC|MYHCA|SSS3;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,myosin_heavy_chain_6;transcript_id=,NM_002471.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon3:c.G166A:p.G56R;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=0.0802;esp6500siv2_ea=0.0883;esp6500siv2_all=0.0802;esp6500siv2_ea=0.0883;1000g2015aug_all=0.0567093;avsnp147=rs28711516;Kaviar_AF=0.0673342;Kaviar_AC=10410;Kaviar_AN=154602;ExAC_ALL=0.0698;ExAC_AFR=0.0601;ExAC_AMR=0.0396;ExAC_EAS=0.0146;ExAC_FIN=0.0487;ExAC_NFE=0.0824;ExAC_OTH=0.0870;ExAC_SAS=0.0825;CLNALLELEID=53622;CLNDN=Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.001;SIFT_pred=D;Polyphen2_HDIV_score=0.975;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.946;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=3.44;MutationAssessor_pred=M;FATHMM_score=-2.18;FATHMM_pred=D;PROVEAN_score=-4.76;PROVEAN_pred=D;VEST3_score=0.158;CADD_raw=5.156;CADD_phred=25.4;DANN_score=0.999;fathmm-MKL_coding_score=0.958;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.339;MetaSVM_pred=T;MetaLR_score=0.161;MetaLR_pred=T;integrated_fitCons_score=0.447;integrated_confidence_value=0;GERP++_RS=3.53;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.932;phastCons7way_vertebrate=0.999;phastCons20way_mammalian=0.971;SiPhy_29way_logOdds=10.491;GDI_full_10282015=.;dpsi_max_tissue=0.3171;dpsi_zscore=0.915;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM122341#"Cardiomyopathy_hypertrophic";gnomAD_exome_ALL=0.0682;gnomAD_exome_AFR=0.0561;gnomAD_exome_AMR=0.0410;gnomAD_exome_ASJ=0.1102;gnomAD_exome_EAS=0.0128;gnomAD_exome_FIN=0.0463;gnomAD_exome_NFE=0.0829;gnomAD_exome_OTH=0.0767;gnomAD_exome_SAS=0.0822;gnomAD_genome_ALL=0.0707;gnomAD_genome_AFR=0.0646;gnomAD_genome_AMR=0.0537;gnomAD_genome_ASJ=0.0933;gnomAD_genome_EAS=0.0092;gnomAD_genome_FIN=0.0512;gnomAD_genome_NFE=0.0860;gnomAD_genome_OTH=0.0704;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-3 GT:DP:CLCAD2 . . 1:84:0,52 . . . 1:80:0,36 . . . . . . . 1:191:0,76 . . . . . . . . . 1:148:0,72 1:84:0,31 . . . . . . . 1:102:0,50 . . . . . . . . 14 23883028 . C T 200.00 . #_unique_end_positions=,55;#_unique_start_positions=,49;AC=1;AN=1;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.54;Coding_region_change=,NM_000257.3:c.5730G>A;Coding_region_change_in_longest_transcript=,NM_000257.3:c.5730G>A;Forward_read_coverage=,106;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:4625;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:4625;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:7577;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:7577;Homo_sapiens_refseq_GRCh37.p13_Genes=,MYH7;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_000257.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene28094;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna40296;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:160760;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:160760;Non-synonymous=,No;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene28094;QUAL=,200.0;Read_count=,98;Read_coverage=,209;Read_direction_test_probability=,0.9950922445062724;Read_position_test_probability=,0.6646479242254844;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_000257.3;Reverse_read_coverage=,103;SF=10;conservation_score=,0.119;db_xref=,GeneID:4625|HGNC:HGNC:7577|MIM:160760;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_000257.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,myosin_heavy_chain_7;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MYH7;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MYH7;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1S|CMH1|MPD1|MYHCB|SPMD|SPMM;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,myosin_heavy_chain_7;transcript_id=,NM_000257.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH7:NM_000257:exon39:c.G5730A:p.A1910A;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs776940948;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;ExAC_ALL=2.471e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=4.495e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=463944;CLNDN=Hypertrophic_cardiomyopathy;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.5972;dpsi_zscore=-1.183;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=2.843e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=4.476e-05;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=3.249e-05;gnomAD_genome_ALL=3.23e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.67e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . . . 1:192:0,88 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 14 23884433 . G A 200.00 . #_unique_end_positions=,75;#_unique_start_positions=,73;AC=1;AN=1;Amino_acid_change=,NP_000248.2:p.Ala1777Val;Amino_acid_change_in_longest_transcript=,NP_000248.2:p.Ala1777Val;BaseQRankSum=,-0.38;Coding_region_change=,NM_000257.3:c.5330C>T;Coding_region_change_in_longest_transcript=,NM_000257.3:c.5330C>T;Forward_read_coverage=,166;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:4625;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:4625;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:7577;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:7577;Homo_sapiens_refseq_GRCh37.p13_Genes=,MYH7;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_000257.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene28094;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna40296;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:160760;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:160760;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene28094;QUAL=,200.0;Read_count=,196;Read_coverage=,412;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9238488817704735;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_000257.3;Reverse_read_coverage=,246;SF=15;conservation_score=,1.0;db_xref=,GeneID:4625|HGNC:HGNC:7577|MIM:160760;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_000257.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,myosin_heavy_chain_7;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MYH7;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MYH7;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1S|CMH1|MPD1|MYHCB|SPMD|SPMM;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,myosin_heavy_chain_7;transcript_id=,NM_000257.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYH7:NM_000257:exon37:c.C5330T:p.A1777V;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=0.951;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.898;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.295;MutationAssessor_pred=M;FATHMM_score=-1.21;FATHMM_pred=T;PROVEAN_score=-2.49;PROVEAN_pred=N;VEST3_score=0.74;CADD_raw=5.169;CADD_phred=25.5;DANN_score=0.999;fathmm-MKL_coding_score=0.995;fathmm-MKL_coding_pred=D;MetaSVM_score=0.261;MetaSVM_pred=D;MetaLR_score=0.611;MetaLR_pred=D;integrated_fitCons_score=0.516;integrated_confidence_value=0;GERP++_RS=5.12;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.045;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=0.998;SiPhy_29way_logOdds=18.752;GDI_full_10282015=.;dpsi_max_tissue=0.1328;dpsi_zscore=0.575;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=10 GT:DP:CLCAD2 . . . . . . . . . . . . . . . 1:393:0,189 . . . . . . . . . . . . . . . . . . . . . . . . . . 14 23884889 43056;rs3729830 C T 200.00 . #_unique_end_positions=,71;#_unique_start_positions=,73;AC=9;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2239;AF_ESP_clinvar_20171029_hg19=,0.1606;AF_EXAC_clinvar_20171029_hg19=,0.10702;AF_TGP_clinvar_20171029_hg19=,0.1176;ALLELEID_clinvar_20171029_hg19=,52226;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0980;AN=9;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.4;CAF_dbsnp_common_v150_hg19_refseq=,0.8824|0.1176;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054|MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664|MedGen:C4021133|MedGen:C1842160|OMIM:608358|SNOMED_CT:699267007|MedGen:CN074249|OMIM:160500|Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy|_distal|_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant;CLNHGVS_clinvar_20171029_hg19=,NC_000014.8:g.23884889C>T;CLNREVSTAT_clinvar_20171029_hg19=,reviewed_by_expert_panel;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:13100;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000257.3:c.5106G>A;Coding_region_change_in_longest_transcript=,NM_000257.3:c.5106G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0188;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1262;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,186;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,MYH7:4625|MHRT:104564225;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:4625|GeneID:104564225;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:4625|GeneID:104564225;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:7577|HGNC:HGNC:51291;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:7577|HGNC:HGNC:51291;Homo_sapiens_refseq_GRCh37.p13_Genes=,MYH7|MHRT;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_000257.3|NR_126491.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene28094|gene28095;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna40296|rna40297;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:160760|MIM:616096;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:160760|MIM:616096;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene28094|gene28095;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,23884889;RS_dbsnp_common_v150_hg19_refseq=,3729830;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,173;Read_coverage=,358;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9873302234049364;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_000257.3|NR_126491.1;Reverse_read_coverage=,172;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0808;SF=2,6,12,13,14,24,25,26,33;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.83449|0.16551;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050168000305150537100100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.114035;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0222222;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.220339;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.001;db_xref=,GeneID:4625|HGNC:HGNC:7577|MIM:160760|GeneID:104564225|HGNC:HGNC:51291|MIM:616096;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_000257.3|Genbank:NR_126491.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,myosin_heavy_chain_7|myosin_heavy_chain-associated_RNA_transcript;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA|ncRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MYH7|MHRT;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MYH7|MHRT;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding|lncRNA;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1S|CMH1|MPD1|MYHCB|SPMD|SPMM|Myheart;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,myosin_heavy_chain_7|myosin_heavy_chain-associated_RNA_transcript;transcript_id=,NM_000257.3|NR_126491.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA|lnc_RNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH7:NM_000257:exon35:c.G5106A:p.A1702A;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=0.1606;esp6500siv2_ea=0.1317;esp6500siv2_all=0.1606;esp6500siv2_ea=0.1317;1000g2015aug_all=0.117612;avsnp147=rs3729830;Kaviar_AF=0.10853;Kaviar_AC=16779;Kaviar_AN=154602;ExAC_ALL=0.1070;ExAC_AFR=0.2320;ExAC_AMR=0.0588;ExAC_EAS=0.0153;ExAC_FIN=0.0745;ExAC_NFE=0.1175;ExAC_OTH=0.1051;ExAC_SAS=0.0809;CLNALLELEID=52226;CLNDN=Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:CN074249,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1182;dpsi_zscore=-0.502;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1037;gnomAD_exome_AFR=0.2273;gnomAD_exome_AMR=0.0651;gnomAD_exome_ASJ=0.1267;gnomAD_exome_EAS=0.0138;gnomAD_exome_FIN=0.0734;gnomAD_exome_NFE=0.1224;gnomAD_exome_OTH=0.1057;gnomAD_exome_SAS=0.0812;gnomAD_genome_ALL=0.1409;gnomAD_genome_AFR=0.2333;gnomAD_genome_AMR=0.0907;gnomAD_genome_ASJ=0.1060;gnomAD_genome_EAS=0.0123;gnomAD_genome_FIN=0.0799;gnomAD_genome_NFE=0.1213;gnomAD_genome_OTH=0.1041;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-10 GT:DP:CLCAD2 . . 1:321:0,154 . . . 1:314:0,187 . . . . . 1:420:0,208 1:420:0,220 1:552:0,268 . . . . . . . . . 1:455:0,191 1:344:0,158 1:349:0,166 . . . . . . 1:284:0,143 . . . . . . . . 14 23885010 43049 C T 200.00 . #_unique_end_positions=,72;#_unique_start_positions=,63;AC=1;AF_ESP_clinvar_20171029_hg19=,0.0001;AF_EXAC_clinvar_20171029_hg19=,0.00006;ALLELEID_clinvar_20171029_hg19=,52219;AN=1;Amino_acid_change=,NP_000248.2:p.Arg1662His;Amino_acid_change_in_longest_transcript=,NP_000248.2:p.Arg1662His;BaseQRankSum=,-0.06;CLNDISDB_clinvar_20171029_hg19=,MedGen:C0007193|Orphanet:ORPHA217604|SNOMED_CT:195021004|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Primary_dilated_cardiomyopathy|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000014.8:g.23885010C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_single_submitter;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;Coding_region_change=,NM_000257.3:c.4985G>A;Coding_region_change_in_longest_transcript=,NM_000257.3:c.4985G>A;Exact_match=,clinvar_20171029_hg19;Forward_read_coverage=,105;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:4625|GeneID:104564225;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:4625|GeneID:104564225;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:7577|HGNC:HGNC:51291;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:7577|HGNC:HGNC:51291;Homo_sapiens_refseq_GRCh37.p13_Genes=,MYH7|MHRT;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_000257.3|NR_126491.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene28094|gene28095;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna40296|rna40297;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:160760|MIM:616096;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:160760|MIM:616096;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene28094|gene28095;QUAL=,200.0;Read_count=,178;Read_coverage=,404;Read_direction_test_probability=,0.8023811055711817;Read_position_test_probability=,0.7715728856934769;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_000257.3|NR_126491.1;Reverse_read_coverage=,299;SF=16;conservation_score=,0.812;db_xref=,GeneID:4625|HGNC:HGNC:7577|MIM:160760|GeneID:104564225|HGNC:HGNC:51291|MIM:616096;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_000257.3|Genbank:NR_126491.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,myosin_heavy_chain_7|myosin_heavy_chain-associated_RNA_transcript;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA|ncRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MYH7|MHRT;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MYH7|MHRT;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding|lncRNA;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1S|CMH1|MPD1|MYHCB|SPMD|SPMM|Myheart;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,myosin_heavy_chain_7|myosin_heavy_chain-associated_RNA_transcript;transcript_id=,NM_000257.3|NR_126491.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA|lnc_RNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYH7:NM_000257:exon35:c.G4985A:p.R1662H;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=7.7e-05;esp6500siv2_ea=.;esp6500siv2_all=7.7e-05;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs370328209;Kaviar_AF=4.53e-05;Kaviar_AC=7;Kaviar_AN=154602;ExAC_ALL=5.769e-05;ExAC_AFR=9.619e-05;ExAC_AMR=8.649e-05;ExAC_EAS=0.0001;ExAC_FIN=0;ExAC_NFE=5.996e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=52219;CLNDN=Primary_dilated_cardiomyopathy|not_specified;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.179;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.012;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.989;MutationTaster_pred=N;MutationAssessor_score=1.795;MutationAssessor_pred=L;FATHMM_score=-1.59;FATHMM_pred=D;PROVEAN_score=-1.36;PROVEAN_pred=N;VEST3_score=0.683;CADD_raw=2.620;CADD_phred=20.3;DANN_score=0.989;fathmm-MKL_coding_score=0.218;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.503;MetaSVM_pred=T;MetaLR_score=0.456;MetaLR_pred=T;integrated_fitCons_score=0.497;integrated_confidence_value=0;GERP++_RS=4.28;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.872;phastCons7way_vertebrate=0.914;phastCons20way_mammalian=0.268;SiPhy_29way_logOdds=11.751;GDI_full_10282015=.;dpsi_max_tissue=0.1255;dpsi_zscore=0.555;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM115875#"Cardiomyopathy_dilated";gnomAD_exome_ALL=6.092e-05;gnomAD_exome_AFR=6.534e-05;gnomAD_exome_AMR=2.978e-05;gnomAD_exome_ASJ=0.0002;gnomAD_exome_EAS=5.798e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=7.164e-05;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=3.249e-05;gnomAD_genome_ALL=3.229e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . 1:365:0,161 . . . . . . . . . . . . . . . . . . . . . . . . . 14 23885378 43035;rs146858930 C T 200.00 . #_unique_end_positions=,77;#_unique_start_positions=,74;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0083;AF_ESP_clinvar_20171029_hg19=,0.0026;AF_EXAC_clinvar_20171029_hg19=,0.00087;AF_TGP_clinvar_20171029_hg19=,0.0022;ALLELEID_clinvar_20171029_hg19=,52205;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.3;CAF_dbsnp_common_v150_hg19_refseq=,0.9978|0.002196;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000014.8:g.23885378C>T;CLNREVSTAT_clinvar_20171029_hg19=,reviewed_by_expert_panel;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Genetics_Diagnostic_Laboratory|Children's_Hospital_of_Eastern_Ontario_(CHEO):1788844;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000257.3:c.4788G>A;Coding_region_change_in_longest_transcript=,NM_000257.3:c.4788G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,145;GENEINFO_dbsnp_common_v150_hg19_refseq=,MYH7:4625|MHRT:104564225;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:4625|GeneID:104564225;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:4625|GeneID:104564225;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:7577|HGNC:HGNC:51291;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:7577|HGNC:HGNC:51291;Homo_sapiens_refseq_GRCh37.p13_Genes=,MYH7|MHRT;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_000257.3|NR_126491.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene28094|gene28095;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna40296|rna40297;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:160760|MIM:616096;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:160760|MIM:616096;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene28094|gene28095;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,23885378;RS_dbsnp_common_v150_hg19_refseq=,146858930;Read_count=,171;Read_coverage=,361;Read_direction_test_probability=,0.9860548155344852;Read_position_test_probability=,0.8337867371989075;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_000257.3|NR_126491.1;Reverse_read_coverage=,216;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=12;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.995913|0.0040871;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050028000305040436000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.93;db_xref=,GeneID:4625|HGNC:HGNC:7577|MIM:160760|GeneID:104564225|HGNC:HGNC:51291|MIM:616096;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_000257.3|Genbank:NR_126491.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,myosin_heavy_chain_7|myosin_heavy_chain-associated_RNA_transcript;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA|ncRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MYH7|MHRT;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MYH7|MHRT;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding|lncRNA;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1S|CMH1|MPD1|MYHCB|SPMD|SPMM|Myheart;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,myosin_heavy_chain_7|myosin_heavy_chain-associated_RNA_transcript;transcript_id=,NM_000257.3|NR_126491.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA|lnc_RNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH7:NM_000257:exon34:c.G4788A:p.S1596S;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=0.0026;esp6500siv2_ea=0.0002;esp6500siv2_all=0.0026;esp6500siv2_ea=0.0002;1000g2015aug_all=0.00219649;avsnp147=rs146858930;Kaviar_AF=0.0008215;Kaviar_AC=127;Kaviar_AN=154602;ExAC_ALL=0.0009;ExAC_AFR=0.0088;ExAC_AMR=0.0005;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=8.99e-05;ExAC_OTH=0;ExAC_SAS=6.056e-05;CLNALLELEID=52205;CLNDN=Hypertrophic_cardiomyopathy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.3326;dpsi_zscore=-0.900;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0007;gnomAD_exome_AFR=0.0088;gnomAD_exome_AMR=0.0004;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=7.161e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0.0001;gnomAD_genome_ALL=0.0029;gnomAD_genome_AFR=0.0100;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.672e-05;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:DP:CLCAD2 . . . . . . . . . . . . 1:339:0,164 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 14 23886409 43020;rs3729823 G C 200.00 . #_unique_end_positions=,49;#_unique_start_positions=,41;AC=2;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0008;AF_ESP_clinvar_20171029_hg19=,0.0086;AF_EXAC_clinvar_20171029_hg19=,0.00746;AF_TGP_clinvar_20171029_hg19=,0.0052;ALLELEID_clinvar_20171029_hg19=,52190;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0086;AN=2;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_000248.2:p.Ser1491Cys;Amino_acid_change_in_longest_transcript=,NP_000248.2:p.Ser1491Cys;BaseQRankSum=,0.14;CAF_dbsnp_common_v150_hg19_refseq=,0.9948|0.005192;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C3495498|OMIM:192600|MedGen:CN074249|OMIM:160500|Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|Myopathy|_distal|_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant;CLNHGVS_clinvar_20171029_hg19=,NC_000014.8:g.23886409G>C;CLNREVSTAT_clinvar_20171029_hg19=,reviewed_by_expert_panel;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,ARUP_Laboratories|_Molecular_Genetics_and_Genomics:91681|Genetics_Diagnostic_Laboratory|Children's_Hospital_of_Eastern_Ontario_(CHEO):335032|HGMD:CM050712|Illumina_Clinical_Services_Laboratory|Illumina:92192|UniProtKB_(protein):P12883#VAR_020819;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000257.3:c.4472C>G;Coding_region_change_in_longest_transcript=,NM_000257.3:c.4472C>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0139;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,84;GENEINFO_dbsnp_common_v150_hg19_refseq=,MYH7:4625|MHRT:104564225;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:4625|GeneID:104564225;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:4625;Genotype=,C/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:7577|HGNC:HGNC:51291;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:7577;Homo_sapiens_refseq_GRCh37.p13_Genes=,MYH7|MHRT;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_000257.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene28094|gene28095;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna40296;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:160760|MIM:616096;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:160760;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene28094;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,23886409;RS_dbsnp_common_v150_hg19_refseq=,3729823;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,85;Read_coverage=,171;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.8997879366229818;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_000257.3;Reverse_read_coverage=,87;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0051;SF=0,9;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.991552|0.00844838;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050028080a05040537000101;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0169492;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:4625|HGNC:HGNC:7577|MIM:160760|GeneID:104564225|HGNC:HGNC:51291|MIM:616096;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_000257.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,myosin_heavy_chain_7|myosin_heavy_chain-associated_RNA_transcript;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MYH7|MHRT;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MYH7;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding|lncRNA;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1S|CMH1|MPD1|MYHCB|SPMD|SPMM|Myheart;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,myosin_heavy_chain_7;transcript_id=,NM_000257.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYH7:NM_000257:exon32:c.C4472G:p.S1491C;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=0.0086;esp6500siv2_ea=0.0115;esp6500siv2_all=0.0086;esp6500siv2_ea=0.0115;1000g2015aug_all=0.00519169;avsnp147=rs3729823;Kaviar_AF=0.008137;Kaviar_AC=1258;Kaviar_AN=154602;ExAC_ALL=0.0075;ExAC_AFR=0.0027;ExAC_AMR=0.0046;ExAC_EAS=0;ExAC_FIN=0.0020;ExAC_NFE=0.0105;ExAC_OTH=0.0044;ExAC_SAS=0.0067;CLNALLELEID=52190;CLNDN=Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3495498,OMIM:192600|MedGen:CN074249,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=0.035;SIFT_pred=D;Polyphen2_HDIV_score=0.007;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.03;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=2.08;MutationAssessor_pred=M;FATHMM_score=-1.69;FATHMM_pred=D;PROVEAN_score=-2.11;PROVEAN_pred=N;VEST3_score=0.221;CADD_raw=3.122;CADD_phred=22.6;DANN_score=0.993;fathmm-MKL_coding_score=0.991;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.285;MetaSVM_pred=T;MetaLR_score=0.358;MetaLR_pred=T;integrated_fitCons_score=0.497;integrated_confidence_value=0;GERP++_RS=5.27;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.887;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=0.976;SiPhy_29way_logOdds=19.089;GDI_full_10282015=.;dpsi_max_tissue=-0.0445;dpsi_zscore=-0.240;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM050712#"Cardiomyopathy_hypertrophic";gnomAD_exome_ALL=0.0081;gnomAD_exome_AFR=0.0025;gnomAD_exome_AMR=0.0064;gnomAD_exome_ASJ=0.0021;gnomAD_exome_EAS=5.798e-05;gnomAD_exome_FIN=0.0021;gnomAD_exome_NFE=0.0127;gnomAD_exome_OTH=0.0084;gnomAD_exome_SAS=0.0067;gnomAD_genome_ALL=0.0069;gnomAD_genome_AFR=0.0023;gnomAD_genome_AMR=0.0132;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0026;gnomAD_genome_NFE=0.0111;gnomAD_genome_OTH=0.0072;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-10 GT:DP:CLCAD2 1:154:0,78 . . . . . . . . 1:204:0,89 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 14 23886429 43019;rs61737803 G A 200.00 . #_unique_end_positions=,68;#_unique_start_positions=,49;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0083;AF_ESP_clinvar_20171029_hg19=,0.0026;AF_EXAC_clinvar_20171029_hg19=,0.00080;AF_TGP_clinvar_20171029_hg19=,0.0022;ALLELEID_clinvar_20171029_hg19=,52189;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.65;CAF_dbsnp_common_v150_hg19_refseq=,0.9978|0.002196;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000014.8:g.23886429G>A;CLNREVSTAT_clinvar_20171029_hg19=,reviewed_by_expert_panel;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Genetics_Diagnostic_Laboratory|Children's_Hospital_of_Eastern_Ontario_(CHEO):1788826;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000257.3:c.4452C>T;Coding_region_change_in_longest_transcript=,NM_000257.3:c.4452C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,129;GENEINFO_dbsnp_common_v150_hg19_refseq=,MYH7:4625|MHRT:104564225;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:4625|GeneID:104564225;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:4625|GeneID:104564225;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:7577|HGNC:HGNC:51291;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:7577|HGNC:HGNC:51291;Homo_sapiens_refseq_GRCh37.p13_Genes=,MYH7|MHRT;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_000257.3|NR_126491.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene28094|gene28095;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna40296|rna40297;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:160760|MIM:616096;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:160760|MIM:616096;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene28094|gene28095;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,23886429;RS_dbsnp_common_v150_hg19_refseq=,61737803;Read_count=,138;Read_coverage=,265;Read_direction_test_probability=,0.8767571396337707;Read_position_test_probability=,0.8361307926157369;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_000257.3|NR_126491.1;Reverse_read_coverage=,136;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=12;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.995913|0.00408682;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050028000305040536000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:4625|HGNC:HGNC:7577|MIM:160760|GeneID:104564225|HGNC:HGNC:51291|MIM:616096;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_000257.3|Genbank:NR_126491.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,myosin_heavy_chain_7|myosin_heavy_chain-associated_RNA_transcript;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA|ncRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MYH7|MHRT;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MYH7|MHRT;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding|lncRNA;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1S|CMH1|MPD1|MYHCB|SPMD|SPMM|Myheart;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,myosin_heavy_chain_7|myosin_heavy_chain-associated_RNA_transcript;transcript_id=,NM_000257.3|NR_126491.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA|lnc_RNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH7:NM_000257:exon32:c.C4452T:p.L1484L;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=0.0026;esp6500siv2_ea=0.0002;esp6500siv2_all=0.0026;esp6500siv2_ea=0.0002;1000g2015aug_all=0.00219649;avsnp147=rs61737803;Kaviar_AF=0.0007697;Kaviar_AC=119;Kaviar_AN=154602;ExAC_ALL=0.0008;ExAC_AFR=0.0088;ExAC_AMR=0.0004;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=52189;CLNDN=Hypertrophic_cardiomyopathy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1206;dpsi_zscore=-0.508;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0006;gnomAD_exome_AFR=0.0088;gnomAD_exome_AMR=0.0004;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0;gnomAD_exome_OTH=0;gnomAD_exome_SAS=9.746e-05;gnomAD_genome_ALL=0.0029;gnomAD_genome_AFR=0.0101;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.676e-05;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:DP:CLCAD2 . . . . . . . . . . . . 1:246:0,126 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 14 23890202 161325 C T 200.00 . #_unique_end_positions=,21;#_unique_start_positions=,19;AC=1;AF_ESP_clinvar_20171029_hg19=,0.0001;AF_EXAC_clinvar_20171029_hg19=,0.00007;ALLELEID_clinvar_20171029_hg19=,171162;AN=1;Amino_acid_change=,NP_000248.2:p.Gly1101Ser;Amino_acid_change_in_longest_transcript=,NP_000248.2:p.Gly1101Ser;BaseQRankSum=,0.0;CLNDISDB_clinvar_20171029_hg19=,MedGen:C0949658|Orphanet:ORPHA155|SNOMED_CT:83978005|MedGen:CN169374|MedGen:CN230736;CLNDN_clinvar_20171029_hg19=,Primary_familial_hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype;CLNHGVS_clinvar_20171029_hg19=,NC_000014.8:g.23890202C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;Coding_region_change=,NM_000257.3:c.3301G>A;Coding_region_change_in_longest_transcript=,NM_000257.3:c.3301G>A;Exact_match=,clinvar_20171029_hg19;Forward_read_coverage=,22;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:4625;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:4625;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:7577;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:7577;Homo_sapiens_refseq_GRCh37.p13_Genes=,MYH7;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_000257.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene28094;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna40296;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:160760;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:160760;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene28094;QUAL=,200.0;Read_count=,29;Read_coverage=,58;Read_direction_test_probability=,0.9995589208334409;Read_position_test_probability=,0.7729054709079731;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_000257.3;Reverse_read_coverage=,36;SF=34;conservation_score=,1.0;db_xref=,GeneID:4625|HGNC:HGNC:7577|MIM:160760;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_000257.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,myosin_heavy_chain_7;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MYH7;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MYH7;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1S|CMH1|MPD1|MYHCB|SPMD|SPMM;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,myosin_heavy_chain_7;transcript_id=,NM_000257.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYH7:NM_000257:exon26:c.G3301A:p.G1101S;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=.;avsnp147=rs367546859;Kaviar_AF=7.76e-05;Kaviar_AC=12;Kaviar_AN=154602;ExAC_ALL=6.593e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0.0001;ExAC_FIN=0;ExAC_NFE=8.992e-05;ExAC_OTH=0;ExAC_SAS=6.059e-05;CLNALLELEID=171162;CLNDN=Hypertrophic_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.524;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.004;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.972;MutationTaster_pred=N;MutationAssessor_score=0.51;MutationAssessor_pred=N;FATHMM_score=-1.6;FATHMM_pred=D;PROVEAN_score=-1.55;PROVEAN_pred=N;VEST3_score=0.681;CADD_raw=3.269;CADD_phred=22.8;DANN_score=0.987;fathmm-MKL_coding_score=0.346;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.838;MetaSVM_pred=T;MetaLR_score=0.369;MetaLR_pred=T;integrated_fitCons_score=0.497;integrated_confidence_value=0;GERP++_RS=5.55;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.917;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=0.996;SiPhy_29way_logOdds=19.698;GDI_full_10282015=.;dpsi_max_tissue=-0.2450;dpsi_zscore=-0.767;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM122992#"Cardiomyopathy_hypertrophic";gnomAD_exome_ALL=5.686e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=5.956e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=5.798e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=8.956e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=3.249e-05;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:53:0,26 . . . . . . . 14 23892888 42942;rs7157716 A G 200.00 . #_unique_end_positions=,55;#_unique_start_positions=,54;AC=23;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7458;AF_ESP_clinvar_20171029_hg19=,0.4547;AF_EXAC_clinvar_20171029_hg19=,0.32119;AF_TGP_clinvar_20171029_hg19=,0.3764;ALLELEID_clinvar_20171029_hg19=,52112;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2334;AN=23;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.6236|0.3764;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054|MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664|MedGen:C4021133|MedGen:C1842160|OMIM:608358|SNOMED_CT:699267007|MedGen:CN074249|OMIM:160500|Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy|_distal|_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant;CLNHGVS_clinvar_20171029_hg19=,NC_000014.8:g.23892888A>G;CLNREVSTAT_clinvar_20171029_hg19=,reviewed_by_expert_panel;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:13120;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000257.3:c.2967T>C;Coding_region_change_in_longest_transcript=,NM_000257.3:c.2967T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1667;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3111;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,58;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,MYH7:4625;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:4625;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:4625;Genotype=,G/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:7577;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:7577;Homo_sapiens_refseq_GRCh37.p13_Genes=,MYH7;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_000257.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene28094;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna40296;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:160760;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:160760;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene28094;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,23892888;RS_dbsnp_common_v150_hg19_refseq=,7157716;Read_count=,112;Read_coverage=,112;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_000257.3;Reverse_read_coverage=,54;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2618;SF=2,6,12,13,14,15,16,18,21,23,24,25,27,28,31,33,34,36,38,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.507521|0.492479;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05016800030517053f100100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.307018;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.139535;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.147727;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.850877;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.62;db_xref=,GeneID:4625|HGNC:HGNC:7577|MIM:160760;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_000257.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,myosin_heavy_chain_7;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MYH7;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MYH7;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1S|CMH1|MPD1|MYHCB|SPMD|SPMM;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,myosin_heavy_chain_7;transcript_id=,NM_000257.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH7:NM_000257:exon24:c.T2967C:p.I989I;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=0.4547;esp6500siv2_ea=0.3288;esp6500siv2_all=0.4547;esp6500siv2_ea=0.3288;1000g2015aug_all=0.376398;avsnp147=rs7157716;Kaviar_AF=0.32052;Kaviar_AC=49553;Kaviar_AN=154602;ExAC_ALL=0.3212;ExAC_AFR=0.7184;ExAC_AMR=0.1874;ExAC_EAS=0.1584;ExAC_FIN=0.2499;ExAC_NFE=0.3270;ExAC_OTH=0.2996;ExAC_SAS=0.2562;CLNALLELEID=52112;CLNDN=Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:CN074249,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1918;dpsi_zscore=0.706;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3070;gnomAD_exome_AFR=0.7180;gnomAD_exome_AMR=0.2013;gnomAD_exome_ASJ=0.3954;gnomAD_exome_EAS=0.1554;gnomAD_exome_FIN=0.2467;gnomAD_exome_NFE=0.3225;gnomAD_exome_OTH=0.3241;gnomAD_exome_SAS=0.2587;gnomAD_genome_ALL=0.4165;gnomAD_genome_AFR=0.7157;gnomAD_genome_AMR=0.2428;gnomAD_genome_ASJ=0.44;gnomAD_genome_EAS=0.1389;gnomAD_genome_FIN=0.2602;gnomAD_genome_NFE=0.3257;gnomAD_genome_OTH=0.3098;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-10 GT:DP:CLCAD2 . . 1/1:103:0,103 . . . 1:87:0,39 . . . . . 1:142:0,63 1:145:0,92 1:166:0,90 1/1:143:0,143 1:134:0,71 . 1:102:0,52 . . 1:154:0,73 . 1:172:0,87 1/1:163:0,163 1:92:0,44 . 1:149:0,75 1:138:0,58 . . 1:99:0,50 . 1:102:0,49 1:111:0,58 . 1:138:0,62 . 1:99:0,51 . . 1:108:0,69 14 23896915 42864;rs3729816 G A 200.00 . #_unique_end_positions=,36;#_unique_start_positions=,35;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0469;AF_ESP_clinvar_20171029_hg19=,0.0139;AF_EXAC_clinvar_20171029_hg19=,0.00375;AF_TGP_clinvar_20171029_hg19=,0.0130;ALLELEID_clinvar_20171029_hg19=,52034;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0043;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.74;CAF_dbsnp_common_v150_hg19_refseq=,0.987|0.01298;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054|MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664|MedGen:C4021133|MedGen:C1842160|OMIM:608358|SNOMED_CT:699267007|MedGen:CN074249|OMIM:160500|Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy|_distal|_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant;CLNHGVS_clinvar_20171029_hg19=,NC_000014.8:g.23896915G>A;CLNREVSTAT_clinvar_20171029_hg19=,reviewed_by_expert_panel;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Genetics_Diagnostic_Laboratory|Children's_Hospital_of_Eastern_Ontario_(CHEO):329263|Illumina_Clinical_Services_Laboratory|Illumina:598453;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000257.3:c.1767C>T;Coding_region_change_in_longest_transcript=,NM_000257.3:c.1767C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,91;GENEINFO_dbsnp_common_v150_hg19_refseq=,MYH7:4625;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:4625;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:4625;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:7577;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:7577;Homo_sapiens_refseq_GRCh37.p13_Genes=,MYH7;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_000257.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene28094;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna40296;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:160760;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:160760;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene28094;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,23896915;RS_dbsnp_common_v150_hg19_refseq=,3729816;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,61;Read_coverage=,132;Read_direction_test_probability=,0.9660436920305866;Read_position_test_probability=,0.9831217196901321;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_000257.3;Reverse_read_coverage=,41;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=37;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.977677|0.022323;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050328000305140537000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.025;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:4625|HGNC:HGNC:7577|MIM:160760;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_000257.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,myosin_heavy_chain_7;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MYH7;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MYH7;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1S|CMH1|MPD1|MYHCB|SPMD|SPMM;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,myosin_heavy_chain_7;transcript_id=,NM_000257.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH7:NM_000257:exon16:c.C1767T:p.N589N;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=0.0139;esp6500siv2_ea=.;esp6500siv2_all=0.0139;esp6500siv2_ea=.;1000g2015aug_all=0.0129792;avsnp147=rs3729816;Kaviar_AF=0.0036028;Kaviar_AC=557;Kaviar_AN=154602;ExAC_ALL=0.0037;ExAC_AFR=0.0403;ExAC_AMR=0.0022;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=8.99e-05;ExAC_OTH=0.0011;ExAC_SAS=0.0002;CLNALLELEID=52034;CLNDN=Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:CN074249,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1149;dpsi_zscore=0.527;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0029;gnomAD_exome_AFR=0.0412;gnomAD_exome_AMR=0.0018;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0001;gnomAD_exome_OTH=0.0020;gnomAD_exome_SAS=0.0001;gnomAD_genome_ALL=0.0117;gnomAD_genome_AFR=0.0408;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0002;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-10 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:123:0,56 . . . . 14 23898504 42829;rs139506719 C T 200.00 . #_unique_end_positions=,27;#_unique_start_positions=,23;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0002;AF_EXAC_clinvar_20171029_hg19=,0.00019;AF_TGP_clinvar_20171029_hg19=,0.0002;ALLELEID_clinvar_20171029_hg19=,51999;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AN=1;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-1.47;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054|MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664|MedGen:C4021133|MedGen:C1842160|OMIM:608358|SNOMED_CT:699267007|MedGen:CN074249|OMIM:160500|Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN239310;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy|_distal|_1|not_specified|Dilated_Cardiomyopathy|_Dominant;CLNHGVS_clinvar_20171029_hg19=,NC_000014.8:g.23898504C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_conflicting_interpretations;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:605364;Coding_region_change=,NM_000257.3:c.1191G>A;Coding_region_change_in_longest_transcript=,NM_000257.3:c.1191G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;Exact_match=,clinvar_20171029_hg19|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,19;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:4625;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:4625;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:7577;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:7577;Homo_sapiens_refseq_GRCh37.p13_Genes=,MYH7;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_000257.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene28094;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna40296;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:160760;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:160760;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene28094;QUAL=,200.0;Read_count=,41;Read_coverage=,84;Read_direction_test_probability=,0.9199791022606149;Read_position_test_probability=,0.8757957579717441;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_000257.3;Reverse_read_coverage=,65;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=0;conservation_score=,1.0;db_xref=,GeneID:4625|HGNC:HGNC:7577|MIM:160760;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_000257.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,myosin_heavy_chain_7;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MYH7;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MYH7;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1S|CMH1|MPD1|MYHCB|SPMD|SPMM;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,myosin_heavy_chain_7;transcript_id=,NM_000257.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH7:NM_000257:exon13:c.G1191A:p.K397K;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0001;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0001;1000g2015aug_all=0.000199681;avsnp147=rs139506719;Kaviar_AF=0.0001617;Kaviar_AC=25;Kaviar_AN=154602;ExAC_ALL=0.0002;ExAC_AFR=0;ExAC_AMR=0.0003;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0002;ExAC_OTH=0;ExAC_SAS=0.0003;CLNALLELEID=51999;CLNDN=Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Familial_hypertrophic_cardiomyopathy_1|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:C3495498,OMIM:192600|MedGen:CN074249,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.4311;dpsi_zscore=1.058;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0002;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0003;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0003;gnomAD_exome_OTH=0.0005;gnomAD_exome_SAS=0.0002;gnomAD_genome_ALL=3.231e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.67e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=6 GT:DP:CLCAD2 1:79:0,37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 14 23898994 42823;rs2231126 G A 189.72 . #_unique_end_positions=,27;#_unique_start_positions=,26;AC=6;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4206;AF_ESP_clinvar_20171029_hg19=,0.1845;AF_EXAC_clinvar_20171029_hg19=,0.09607;AF_TGP_clinvar_20171029_hg19=,0.1562;ALLELEID_clinvar_20171029_hg19=,51993;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0764;AN=6;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.8438|0.1562|.;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054|MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664|MedGen:C4021133|MedGen:C1842160|OMIM:608358|SNOMED_CT:699267007|MedGen:CN074249|OMIM:160500|Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy|_distal|_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant;CLNHGVS_clinvar_20171029_hg19=,NC_000014.8:g.23898994G>A;CLNREVSTAT_clinvar_20171029_hg19=,reviewed_by_expert_panel;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:50769;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000257.3:c.1128C>T;Coding_region_change_in_longest_transcript=,NM_000257.3:c.1128C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0198;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0785;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,38;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,MYH7:4625;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:4625;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:4625;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:7577;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:7577;Homo_sapiens_refseq_GRCh37.p13_Genes=,MYH7;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_000257.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene28094;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna40296;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:160760;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:160760;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene28094;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,23898994;RS_dbsnp_common_v150_hg19_refseq=,2231126;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,42;Read_coverage=,89;Read_direction_test_probability=,0.9941132111419565;Read_position_test_probability=,0.8961261541647126;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_000257.3;Reverse_read_coverage=,51;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0757;SF=2,6,14,24,25,33;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.786627|0.213373|.;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05036800030515053e100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.856;db_xref=,GeneID:4625|HGNC:HGNC:7577|MIM:160760;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_000257.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,myosin_heavy_chain_7;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MYH7;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MYH7;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1S|CMH1|MPD1|MYHCB|SPMD|SPMM;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,myosin_heavy_chain_7;transcript_id=,NM_000257.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH7:NM_000257:exon12:c.C1128T:p.D376D;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=0.1845;esp6500siv2_ea=0.0867;esp6500siv2_all=0.1845;esp6500siv2_ea=0.0867;1000g2015aug_all=0.15615;avsnp147=rs2231126;Kaviar_AF=0.0943131;Kaviar_AC=14581;Kaviar_AN=154602;ExAC_ALL=0.0961;ExAC_AFR=0.3860;ExAC_AMR=0.0482;ExAC_EAS=0.0149;ExAC_FIN=0.0543;ExAC_NFE=0.0794;ExAC_OTH=0.0837;ExAC_SAS=0.0742;CLNALLELEID=51993;CLNDN=Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:CN074249,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.4332;dpsi_zscore=-1.021;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0884;gnomAD_exome_AFR=0.3897;gnomAD_exome_AMR=0.0534;gnomAD_exome_ASJ=0.0925;gnomAD_exome_EAS=0.0132;gnomAD_exome_FIN=0.0524;gnomAD_exome_NFE=0.0801;gnomAD_exome_OTH=0.0879;gnomAD_exome_SAS=0.0739;gnomAD_genome_ALL=0.1578;gnomAD_genome_AFR=0.3795;gnomAD_genome_AMR=0.0728;gnomAD_genome_ASJ=0.0767;gnomAD_genome_EAS=0.0111;gnomAD_genome_FIN=0.0600;gnomAD_genome_NFE=0.0785;gnomAD_genome_OTH=0.0862;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-10 GT:DP:CLCAD2 . . 1:80:0,38 . . . 1:66:0,27 . . . . . . . 1:126:0,66 . . . . . . . . . 1:110:0,60 1:74:0,26 . . . . . . . 1:60:0,28 . . . . . . . . 14 23899027 42821;rs735711 C T 190.56 . #_unique_end_positions=,35;#_unique_start_positions=,29;AC=9;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1362;AF_ESP_clinvar_20171029_hg19=,0.1489;AF_EXAC_clinvar_20171029_hg19=,0.11586;AF_TGP_clinvar_20171029_hg19=,0.0797;ALLELEID_clinvar_20171029_hg19=,51991;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0706;AN=9;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-1.41;CAF_dbsnp_common_v150_hg19_refseq=,0.9203|.|.|0.07967;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054|MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664|MedGen:C4021133|MedGen:C1842160|OMIM:608358|SNOMED_CT:699267007|MedGen:CN074249|OMIM:160500|Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy|_distal|_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant;CLNHGVS_clinvar_20171029_hg19=,NC_000014.8:g.23899027C>T;CLNREVSTAT_clinvar_20171029_hg19=,reviewed_by_expert_panel;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:13144;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000257.3:c.1095G>A;Coding_region_change_in_longest_transcript=,NM_000257.3:c.1095G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1402;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,40;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,MYH7:4625;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:4625;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:4625;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:7577;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:7577;Homo_sapiens_refseq_GRCh37.p13_Genes=,MYH7;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_000257.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene28094;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna40296;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:160760;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:160760;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene28094;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,23899027;RS_dbsnp_common_v150_hg19_refseq=,735711;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,48;Read_coverage=,92;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9584939484786612;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_000257.3;Reverse_read_coverage=,52;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0286;SF=2,13,15,16,21,23,24,27,38;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.866749|.|.|0.133251;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05036800030515053e100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.955;db_xref=,GeneID:4625|HGNC:HGNC:7577|MIM:160760;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_000257.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,myosin_heavy_chain_7;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MYH7;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MYH7;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1S|CMH1|MPD1|MYHCB|SPMD|SPMM;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,myosin_heavy_chain_7;transcript_id=,NM_000257.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH7:NM_000257:exon12:c.G1095A:p.K365K;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=0.1489;esp6500siv2_ea=0.1513;esp6500siv2_all=0.1489;esp6500siv2_ea=0.1513;1000g2015aug_all=0.0796725;avsnp147=rs735711;Kaviar_AF=0.118517;Kaviar_AC=18323;Kaviar_AN=154602;ExAC_ALL=0.1159;ExAC_AFR=0.1416;ExAC_AMR=0.0547;ExAC_EAS=0.0003;ExAC_FIN=0.1049;ExAC_NFE=0.1567;ExAC_OTH=0.1145;ExAC_SAS=0.0423;CLNALLELEID=51991;CLNDN=Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:CN074249,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1761;dpsi_zscore=-0.638;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1116;gnomAD_exome_AFR=0.1414;gnomAD_exome_AMR=0.0581;gnomAD_exome_ASJ=0.1735;gnomAD_exome_EAS=0.0003;gnomAD_exome_FIN=0.1036;gnomAD_exome_NFE=0.1551;gnomAD_exome_OTH=0.1187;gnomAD_exome_SAS=0.0441;gnomAD_genome_ALL=0.1396;gnomAD_genome_AFR=0.1423;gnomAD_genome_AMR=0.0692;gnomAD_genome_ASJ=0.2119;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.1080;gnomAD_genome_NFE=0.1635;gnomAD_genome_OTH=0.1319;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-10 GT:DP:CLCAD2 . . 1:82:0,44 . . . . . . . . . . 1:98:0,43 . 1:104:0,62 1:112:0,49 . . . . 1:108:0,57 . 1:96:0,29 1:109:0,44 . . 1:113:0,42 . . . . . . . . . . 1:79:0,33 . . . 14 23899060 42819;rs735712 G A 192.76 . #_unique_end_positions=,22;#_unique_start_positions=,20;AC=6;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0219;AF_ESP_clinvar_20171029_hg19=,0.0626;AF_EXAC_clinvar_20171029_hg19=,0.07043;AF_TGP_clinvar_20171029_hg19=,0.0639;ALLELEID_clinvar_20171029_hg19=,51989;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0432;AN=6;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.41;CAF_dbsnp_common_v150_hg19_refseq=,0.9361|0.0639;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054|MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664|MedGen:C4021133|MedGen:C1842160|OMIM:608358|SNOMED_CT:699267007|MedGen:CN074249|OMIM:160500|Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy|_distal|_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant;CLNHGVS_clinvar_20171029_hg19=,NC_000014.8:g.23899060G>A;CLNREVSTAT_clinvar_20171029_hg19=,reviewed_by_expert_panel;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:13169;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000257.3:c.1062C>T;Coding_region_change_in_longest_transcript=,NM_000257.3:c.1062C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0813;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0736;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,47;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,MYH7:4625;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:4625;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:4625;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:7577;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:7577;Homo_sapiens_refseq_GRCh37.p13_Genes=,MYH7;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_000257.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene28094;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna40296;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:160760;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:160760;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene28094;QUAL=,156.53559774527022;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,23899060;RS_dbsnp_common_v150_hg19_refseq=,735712;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,37;Read_coverage=,102;Read_direction_test_probability=,0.7849096786980616;Read_position_test_probability=,0.5668454837367257;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_000257.3;Reverse_read_coverage=,55;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1074;SF=15,28,31,34,36,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.936706|0.0632942;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050368000305150536100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.093;db_xref=,GeneID:4625|HGNC:HGNC:7577|MIM:160760;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_000257.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,myosin_heavy_chain_7;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MYH7;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MYH7;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1S|CMH1|MPD1|MYHCB|SPMD|SPMM;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,myosin_heavy_chain_7;transcript_id=,NM_000257.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH7:NM_000257:exon12:c.C1062T:p.G354G;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=0.0626;esp6500siv2_ea=0.0795;esp6500siv2_all=0.0626;esp6500siv2_ea=0.0795;1000g2015aug_all=0.0638978;avsnp147=rs735712;Kaviar_AF=0.0701091;Kaviar_AC=10839;Kaviar_AN=154602;ExAC_ALL=0.0704;ExAC_AFR=0.0261;ExAC_AMR=0.0375;ExAC_EAS=0.0670;ExAC_FIN=0.0549;ExAC_NFE=0.0779;ExAC_OTH=0.0640;ExAC_SAS=0.0996;CLNALLELEID=51989;CLNDN=Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:CN074249,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.5088;dpsi_zscore=-1.100;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0703;gnomAD_exome_AFR=0.0251;gnomAD_exome_AMR=0.0442;gnomAD_exome_ASJ=0.0978;gnomAD_exome_EAS=0.0667;gnomAD_exome_FIN=0.0554;gnomAD_exome_NFE=0.0767;gnomAD_exome_OTH=0.0811;gnomAD_exome_SAS=0.1002;gnomAD_genome_ALL=0.0587;gnomAD_genome_AFR=0.0293;gnomAD_genome_AMR=0.0585;gnomAD_genome_ASJ=0.1167;gnomAD_genome_EAS=0.0630;gnomAD_genome_FIN=0.0607;gnomAD_genome_NFE=0.0738;gnomAD_genome_OTH=0.0594;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-10 GT:DP:CLCAD2 . . . . . . . . . . . . . . . 1:86:0,30 . . . . . . . . . . . . 1:136:0,59 . . 1:76:0,41 . . 1:98:0,34 . 1:80:0,41 . . . . 1:90:0,50 14 23899793 43116;rs2231124 G A 179.87 . #_unique_end_positions=,27;#_unique_start_positions=,20;AC=7;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0030;AF_ESP_clinvar_20171029_hg19=,0.0210;AF_EXAC_clinvar_20171029_hg19=,0.02085;AF_TGP_clinvar_20171029_hg19=,0.0146;ALLELEID_clinvar_20171029_hg19=,52286;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0360;AN=7;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.9854|0.01458;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054|MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664|MedGen:C4021133|MedGen:C1842160|OMIM:608358|SNOMED_CT:699267007|MedGen:CN074249|OMIM:160500|Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy|_distal|_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant;CLNHGVS_clinvar_20171029_hg19=,NC_000014.8:g.23899793G>A;CLNREVSTAT_clinvar_20171029_hg19=,reviewed_by_expert_panel;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:13112;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000257.3:c.975C>T;Coding_region_change_in_longest_transcript=,NM_000257.3:c.975C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0348;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,36;GENEINFO_dbsnp_common_v150_hg19_refseq=,MYH7:4625;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:4625;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:4625;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:7577;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:7577;Homo_sapiens_refseq_GRCh37.p13_Genes=,MYH7;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_000257.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene28094;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna40296;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:160760;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:160760;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene28094;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,23899793;RS_dbsnp_common_v150_hg19_refseq=,2231124;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,38;Read_coverage=,79;Read_direction_test_probability=,0.9979222432415875;Read_position_test_probability=,0.2923380845543271;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_000257.3;Reverse_read_coverage=,43;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0092;SF=3,7,8,9,14,21,27;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.982142|0.0178584;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050368000305140536100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.931;db_xref=,GeneID:4625|HGNC:HGNC:7577|MIM:160760;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_000257.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,myosin_heavy_chain_7;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MYH7;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MYH7;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1S|CMH1|MPD1|MYHCB|SPMD|SPMM;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,myosin_heavy_chain_7;transcript_id=,NM_000257.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH7:NM_000257:exon11:c.C975T:p.D325D;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=0.0210;esp6500siv2_ea=0.0290;esp6500siv2_all=0.0210;esp6500siv2_ea=0.0290;1000g2015aug_all=0.0145767;avsnp147=rs2231124;Kaviar_AF=0.0210541;Kaviar_AC=3255;Kaviar_AN=154602;ExAC_ALL=0.0209;ExAC_AFR=0.0046;ExAC_AMR=0.0211;ExAC_EAS=0;ExAC_FIN=0.0137;ExAC_NFE=0.0292;ExAC_OTH=0.0275;ExAC_SAS=0.0099;CLNALLELEID=52286;CLNDN=Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:CN074249,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0054;dpsi_zscore=0.037;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0204;gnomAD_exome_AFR=0.0046;gnomAD_exome_AMR=0.0170;gnomAD_exome_ASJ=0.0531;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0142;gnomAD_exome_NFE=0.0281;gnomAD_exome_OTH=0.0274;gnomAD_exome_SAS=0.0087;gnomAD_genome_ALL=0.0155;gnomAD_genome_AFR=0.0041;gnomAD_genome_AMR=0.0167;gnomAD_genome_ASJ=0.0728;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0132;gnomAD_genome_NFE=0.0232;gnomAD_genome_OTH=0.0133;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-10 GT:DP:CLCAD2 . . . 1:70:0,34 . . . 1:51:0,23 1:69:0,30 1:52:0,15 . . . . 1:89:0,35 . . . . . . 1:63:0,29 . . . . . 1:87:0,31 . . . . . . . . . . . . . . 14 23900794 43103;rs2069542 G A 200.00 . #_unique_end_positions=,45;#_unique_start_positions=,42;AC=14;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5976;AF_ESP_clinvar_20171029_hg19=,0.2889;AF_EXAC_clinvar_20171029_hg19=,0.18365;AF_TGP_clinvar_20171029_hg19=,0.2638;ALLELEID_clinvar_20171029_hg19=,52273;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1311;AN=14;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.32;CAF_dbsnp_common_v150_hg19_refseq=,0.7362|0.2638;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054|MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664|MedGen:C4021133|MedGen:C1842160|OMIM:608358|SNOMED_CT:699267007|MedGen:CN074249|OMIM:160500|Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy|_distal|_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant;CLNHGVS_clinvar_20171029_hg19=,NC_000014.8:g.23900794G>A;CLNREVSTAT_clinvar_20171029_hg19=,reviewed_by_expert_panel;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:13185;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000257.3:c.732C>T;Coding_region_change_in_longest_transcript=,NM_000257.3:c.732C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0903;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1600;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,110;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,MYH7:4625;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:4625;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:4625;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:7577;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:7577;Homo_sapiens_refseq_GRCh37.p13_Genes=,MYH7;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_000257.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene28094;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna40296;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:160760;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:160760;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene28094;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,23900794;RS_dbsnp_common_v150_hg19_refseq=,2069542;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,82;Read_coverage=,182;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9716083039508632;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_000257.3;Reverse_read_coverage=,72;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1922;SF=2,6,13,14,15,17,24,25,28,31,33,34,36,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.661653|0.338347;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050328000305150537000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.177419;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0238095;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.589286;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.987;db_xref=,GeneID:4625|HGNC:HGNC:7577|MIM:160760;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_000257.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,myosin_heavy_chain_7;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MYH7;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MYH7;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1S|CMH1|MPD1|MYHCB|SPMD|SPMM;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,myosin_heavy_chain_7;transcript_id=,NM_000257.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH7:NM_000257:exon8:c.C732T:p.F244F;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=0.2889;esp6500siv2_ea=0.1680;esp6500siv2_all=0.2889;esp6500siv2_ea=0.1680;1000g2015aug_all=0.263778;avsnp147=rs2069542;Kaviar_AF=0.18208;Kaviar_AC=28150;Kaviar_AN=154602;ExAC_ALL=0.1836;ExAC_AFR=0.5481;ExAC_AMR=0.1034;ExAC_EAS=0.0711;ExAC_FIN=0.1112;ExAC_NFE=0.1618;ExAC_OTH=0.1707;ExAC_SAS=0.1873;CLNALLELEID=52273;CLNDN=Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:CN074249,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.2270;dpsi_zscore=0.773;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1739;gnomAD_exome_AFR=0.5518;gnomAD_exome_AMR=0.1135;gnomAD_exome_ASJ=0.2162;gnomAD_exome_EAS=0.0691;gnomAD_exome_FIN=0.1102;gnomAD_exome_NFE=0.1604;gnomAD_exome_OTH=0.1892;gnomAD_exome_SAS=0.1896;gnomAD_genome_ALL=0.2555;gnomAD_genome_AFR=0.5406;gnomAD_genome_AMR=0.1435;gnomAD_genome_ASJ=0.2152;gnomAD_genome_EAS=0.0679;gnomAD_genome_FIN=0.1215;gnomAD_genome_NFE=0.1547;gnomAD_genome_OTH=0.1575;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-10 GT:DP:CLCAD2 . . 1:162:0,74 . . . 1:146:0,62 . . . . . . 1:210:0,103 1:286:0,143 1:219:0,109 . 1:228:0,107 . . . . . . 1:251:0,113 1:183:0,86 . . 1:268:0,111 . . 1:136:0,66 . 1:169:0,84 1:167:0,95 . 1:194:0,84 . . . . 1:165:0,85 14 23900794 43103;rs2069542 G A 200.00 . #_unique_end_positions=,45;#_unique_start_positions=,42;AC=14;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5976;AF_ESP_clinvar_20171029_hg19=,0.2889;AF_EXAC_clinvar_20171029_hg19=,0.18365;AF_TGP_clinvar_20171029_hg19=,0.2638;ALLELEID_clinvar_20171029_hg19=,52273;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1311;AN=14;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.32;CAF_dbsnp_common_v150_hg19_refseq=,0.7362|0.2638;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054|MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664|MedGen:C4021133|MedGen:C1842160|OMIM:608358|SNOMED_CT:699267007|MedGen:CN074249|OMIM:160500|Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy|_distal|_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant;CLNHGVS_clinvar_20171029_hg19=,NC_000014.8:g.23900794G>A;CLNREVSTAT_clinvar_20171029_hg19=,reviewed_by_expert_panel;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:13185;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000257.3:c.732C>T;Coding_region_change_in_longest_transcript=,NM_000257.3:c.732C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0903;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1600;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,110;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,MYH7:4625;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:4625;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:4625;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:7577;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:7577;Homo_sapiens_refseq_GRCh37.p13_Genes=,MYH7;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_000257.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene28094;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna40296;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:160760;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:160760;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene28094;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,23900794;RS_dbsnp_common_v150_hg19_refseq=,2069542;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,82;Read_coverage=,182;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9716083039508632;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_000257.3;Reverse_read_coverage=,72;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1922;SF=2,6,13,14,15,17,24,25,28,31,33,34,36,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.661653|0.338347;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050328000305150537000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.177419;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0238095;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.589286;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.987;db_xref=,GeneID:4625|HGNC:HGNC:7577|MIM:160760;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_000257.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,myosin_heavy_chain_7;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MYH7;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MYH7;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1S|CMH1|MPD1|MYHCB|SPMD|SPMM;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,myosin_heavy_chain_7;transcript_id=,NM_000257.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH7:NM_000257:exon8:c.C732T:p.F244F;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=0.2889;esp6500siv2_ea=0.1680;esp6500siv2_all=0.2889;esp6500siv2_ea=0.1680;1000g2015aug_all=0.263778;avsnp147=rs2069542;Kaviar_AF=0.18208;Kaviar_AC=28150;Kaviar_AN=154602;ExAC_ALL=0.1836;ExAC_AFR=0.5481;ExAC_AMR=0.1034;ExAC_EAS=0.0711;ExAC_FIN=0.1112;ExAC_NFE=0.1618;ExAC_OTH=0.1707;ExAC_SAS=0.1873;CLNALLELEID=52273;CLNDN=Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:CN074249,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.2270;dpsi_zscore=0.773;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1739;gnomAD_exome_AFR=0.5518;gnomAD_exome_AMR=0.1135;gnomAD_exome_ASJ=0.2162;gnomAD_exome_EAS=0.0691;gnomAD_exome_FIN=0.1102;gnomAD_exome_NFE=0.1604;gnomAD_exome_OTH=0.1892;gnomAD_exome_SAS=0.1896;gnomAD_genome_ALL=0.2555;gnomAD_genome_AFR=0.5406;gnomAD_genome_AMR=0.1435;gnomAD_genome_ASJ=0.2152;gnomAD_genome_EAS=0.0679;gnomAD_genome_FIN=0.1215;gnomAD_genome_NFE=0.1547;gnomAD_genome_OTH=0.1575;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-10 GT:DP:CLCAD2 . . 1:162:0,74 . . . 1:146:0,62 . . . . . . 1:210:0,103 1:286:0,143 1:219:0,109 . 1:228:0,107 . . . . . . 1:251:0,113 1:183:0,86 . . 1:268:0,111 . . 1:136:0,66 . 1:169:0,84 1:167:0,95 . 1:194:0,84 . . . . 1:165:0,85 14 23901012 43092;rs2069541 T C 200.00 . #_unique_end_positions=,45;#_unique_start_positions=,38;AC=2;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0008;AF_ESP_clinvar_20171029_hg19=,0.0108;AF_EXAC_clinvar_20171029_hg19=,0.01092;AF_TGP_clinvar_20171029_hg19=,0.0058;ALLELEID_clinvar_20171029_hg19=,52262;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0043;AN=2;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.35;CAF_dbsnp_common_v150_hg19_refseq=,0.9942|0.005791;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054|MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664|MedGen:C4021133|MedGen:C1842160|OMIM:608358|SNOMED_CT:699267007|MedGen:CN074249|OMIM:160500|Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy|_distal|_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant;CLNHGVS_clinvar_20171029_hg19=,NC_000014.8:g.23901012T>C;CLNREVSTAT_clinvar_20171029_hg19=,reviewed_by_expert_panel;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Genetics_Diagnostic_Laboratory|Children's_Hospital_of_Eastern_Ontario_(CHEO):336709|Illumina_Clinical_Services_Laboratory|Illumina:13157;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000257.3:c.597A>G;Coding_region_change_in_longest_transcript=,NM_000257.3:c.597A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0169;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,67;GENEINFO_dbsnp_common_v150_hg19_refseq=,MYH7:4625;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:4625;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:4625;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:7577;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:7577;Homo_sapiens_refseq_GRCh37.p13_Genes=,MYH7;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_000257.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene28094;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna40296;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:160760;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:160760;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene28094;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,23901012;RS_dbsnp_common_v150_hg19_refseq=,2069541;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,80;Read_coverage=,182;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9942884889541469;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_000257.3;Reverse_read_coverage=,115;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0082;SF=1,28;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.990693|0.00930696;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050328000305040537000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.00847458;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.91;db_xref=,GeneID:4625|HGNC:HGNC:7577|MIM:160760;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_000257.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,myosin_heavy_chain_7;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MYH7;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MYH7;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1S|CMH1|MPD1|MYHCB|SPMD|SPMM;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,myosin_heavy_chain_7;transcript_id=,NM_000257.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH7:NM_000257:exon7:c.A597G:p.A199A;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=0.0108;esp6500siv2_ea=0.0147;esp6500siv2_all=0.0108;esp6500siv2_ea=0.0147;1000g2015aug_all=0.00579073;avsnp147=rs2069541;Kaviar_AF=0.0110477;Kaviar_AC=1708;Kaviar_AN=154602;ExAC_ALL=0.0109;ExAC_AFR=0.0029;ExAC_AMR=0.0060;ExAC_EAS=0;ExAC_FIN=0.0021;ExAC_NFE=0.0152;ExAC_OTH=0.0165;ExAC_SAS=0.0111;CLNALLELEID=52262;CLNDN=Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:CN074249,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.4806;dpsi_zscore=1.113;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0103;gnomAD_exome_AFR=0.0026;gnomAD_exome_AMR=0.0064;gnomAD_exome_ASJ=0.0016;gnomAD_exome_EAS=5.798e-05;gnomAD_exome_FIN=0.0026;gnomAD_exome_NFE=0.0157;gnomAD_exome_OTH=0.0142;gnomAD_exome_SAS=0.0116;gnomAD_genome_ALL=0.0078;gnomAD_genome_AFR=0.0026;gnomAD_genome_AMR=0.0060;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0034;gnomAD_genome_NFE=0.0127;gnomAD_genome_OTH=0.0112;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-10 GT:DP:CLCAD2 . 1:162:0,73 . . . . . . . . . . . . . . . . . . . . . . . . . . 1:237:0,108 . . . . . . . . . . . . . 14 23902753 42869;rs2069540 G A 198.65 . #_unique_end_positions=,53;#_unique_start_positions=,45;AC=36;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6392;AF_EXAC_clinvar_20171029_hg19=,0.48885;ALLELEID_clinvar_20171029_hg19=,52039;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4063;AN=36;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.15;CAF_dbsnp_common_v150_hg19_refseq=,0.4796|0.5204;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054|MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664|MedGen:C4021133|MedGen:C1842160|OMIM:608358|SNOMED_CT:699267007|MedGen:CN074249|OMIM:160500|Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy|_distal|_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant;CLNHGVS_clinvar_20171029_hg19=,NC_000014.8:g.23902753G>A;CLNREVSTAT_clinvar_20171029_hg19=,reviewed_by_expert_panel;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:13137;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000257.3:c.189C>T;Coding_region_change_in_longest_transcript=,NM_000257.3:c.189C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4137;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4851;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,124;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,MYH7:4625;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:4625;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:4625;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:7577;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:7577;Homo_sapiens_refseq_GRCh37.p13_Genes=,MYH7;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_000257.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene28094;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna40296;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:160760;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:160760;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene28094;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,23902753;RS_dbsnp_common_v150_hg19_refseq=,2069540;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,99;Read_coverage=,174;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9728068892311212;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_000257.3;Reverse_read_coverage=,50;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5869;SF=1,2,4,6,8,10,13,14,15,16,17,19,20,22,23,24,25,26,28,30,31,32,33,34,35,36,37,38,39,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.4501|0.5499;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05036800030517053f100100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.693878;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.451327;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.439024;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.335294;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.545455;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.511628;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.302326;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.616667;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.3;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.629371;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.460227;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.632743;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.22;db_xref=,GeneID:4625|HGNC:HGNC:7577|MIM:160760;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_000257.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,myosin_heavy_chain_7;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MYH7;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MYH7;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1S|CMH1|MPD1|MYHCB|SPMD|SPMM;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,myosin_heavy_chain_7;transcript_id=,NM_000257.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH7:NM_000257:exon3:c.C189T:p.T63T;cytoBand=14q11.2;genomicSuperDups=.;esp6500siv2_all=0.5275;esp6500siv2_ea=0.4841;esp6500siv2_all=0.5275;esp6500siv2_ea=0.4841;1000g2015aug_all=0.520367;avsnp147=rs2069540;Kaviar_AF=0.485375;Kaviar_AC=75040;Kaviar_AN=154602;ExAC_ALL=0.4888;ExAC_AFR=0.6284;ExAC_AMR=0.4253;ExAC_EAS=0.3692;ExAC_FIN=0.3972;ExAC_NFE=0.4780;ExAC_OTH=0.4415;ExAC_SAS=0.5906;CLNALLELEID=52039;CLNDN=Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:CN074249,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-3.8780;dpsi_zscore=-2.326;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.4809;gnomAD_exome_AFR=0.6281;gnomAD_exome_AMR=0.4302;gnomAD_exome_ASJ=0.4674;gnomAD_exome_EAS=0.3746;gnomAD_exome_FIN=0.4046;gnomAD_exome_NFE=0.4796;gnomAD_exome_OTH=0.4901;gnomAD_exome_SAS=0.5851;gnomAD_genome_ALL=0.5085;gnomAD_genome_AFR=0.6281;gnomAD_genome_AMR=0.4510;gnomAD_genome_ASJ=0.4603;gnomAD_genome_EAS=0.3933;gnomAD_genome_FIN=0.4186;gnomAD_genome_NFE=0.4778;gnomAD_genome_OTH=0.4898;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-10 GT:DP:CLCAD2 . 1:154:0,84 1:160:0,83 . 1:121:0,49 . 1/1:126:0,126 . 1:186:0,87 . 1:222:0,96 . . 1/1:168:0,168 1:247:0,123 1:175:0,95 1:177:0,87 1:181:0,87 . 1:160:0,77 1:151:0,59 . 1:231:0,109 1:219:0,103 1:214:0,106 1:147:0,49 1/1:178:0,177 . 1/1:209:0,209 . 1:178:0,83 1:107:0,47 1:155:0,72 1:136:0,64 1/1:166:0,166 1:150:0,65 1:153:0,72 1:97:0,46 1:133:0,66 1:185:0,86 . 1/1:128:0,128 14 73637618 . GGAA G 200.00 . #_unique_end_positions=,35;#_unique_start_positions=,34;AC=1;AN=1;Amino_acid_change=,NP_000012.1:p.Glu69del|_NP_015557.2:p.Glu65del;Amino_acid_change_in_longest_transcript=,NP_000012.1:p.Glu69del;BaseQRankSum=,-1.03;Coding_region_change=,NM_000021.3:c.207_209del|_NM_007318.2:c.195_197del;Coding_region_change_in_longest_transcript=,NM_000021.3:c.207_209del;Forward_read_coverage=,48;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:5663;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:5663;Genotype=,complex;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:9508;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:9508;Homo_sapiens_refseq_GRCh37.p13_Genes=,PSEN1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_007318.2|NM_000021.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene28697;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna41138|rna41137;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:104311;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:104311;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene28697;QUAL=,200.0;Read_count=,45;Read_coverage=,109;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9773816864696496;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_007318.2|NM_000021.3;Reverse_read_coverage=,63;SF=26;Start_by_3'_rule=,73637623;Symbols_by_3'_rule=,73637623:_AGA;conservation_score=,0.9943333333333332;db_xref=,GeneID:5663|HGNC:HGNC:9508|MIM:104311;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_007318.2|Genbank:NM_000021.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,presenilin_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,PSEN1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,PSEN1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,AD3|FAD|PS-1|PS1|S182;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,presenilin_1|_transcript_variant_2|presenilin_1|_transcript_variant_1;transcript_id=,NM_007318.2|NM_000021.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=PSEN1;GeneDetail.refGene=.;ExonicFunc.refGene=nonframeshift_deletion;AAChange.refGene=PSEN1:NM_000021:exon4:c.202_204del:p.68_68del,PSEN1:NM_007318:exon4:c.190_192del:p.64_64del;cytoBand=14q24.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . 1:100:0,39 . . . . . . . . . . . . . . . 15 48720652 42413;rs363830 C T 178.27 . #_unique_end_positions=,19;#_unique_start_positions=,20;AC=2;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0416;AF_ESP_clinvar_20171029_hg19=,0.0263;AF_EXAC_clinvar_20171029_hg19=,0.02964;AF_TGP_clinvar_20171029_hg19=,0.0509;ALLELEID_clinvar_20171029_hg19=,51583;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0231;AN=2;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.76;CAF_dbsnp_common_v150_hg19_refseq=,0.9491|0.05092;CLNDISDB_clinvar_20171029_hg19=,MedGen:C0013581|Orphanet:ORPHA1885|SNOMED_CT:74969002|MedGen:C0024796|OMIM:154700|Orphanet:ORPHA558|SNOMED_CT:19346006|MedGen:C0265287|OMIM:102370|Orphanet:ORPHA969|SNOMED_CT:254090007|MedGen:C0265313|Orphanet:ORPHA3449|MedGen:C1858556|OMIM:604308|Orphanet:ORPHA99715|MedGen:C1861456|OMIM:184900|Orphanet:ORPHA2833|MedGen:C3489726|Orphanet:ORPHA2623|MedGen:CN118826|Orphanet:ORPHA91387|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000015.9:g.48720652C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,ARUP_Laboratories|_Molecular_Genetics_and_Genomics:2621|Illumina_Clinical_Services_Laboratory|Illumina:97081;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000138.4:c.6888G>A;Coding_region_change_in_longest_transcript=,NM_000138.4:c.6888G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0962;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0149;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,34;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,FBN1:2200;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:2200;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:2200;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:3603;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:3603;Homo_sapiens_refseq_GRCh37.p13_Genes=,FBN1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_000138.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene29998;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna42803;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:134797;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:134797;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene29998;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,48720652;RS_dbsnp_common_v150_hg19_refseq=,363830;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,34;Read_coverage=,77;Read_direction_test_probability=,0.7901193947895968;Read_position_test_probability=,0.9163404420406881;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_000138.4;Reverse_read_coverage=,43;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0736;SF=26,27;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.964077|0.0359228;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05012800030515053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.0408163;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.00833333;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.0853659;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.0705882;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.113636;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0333333;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0888889;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.0722222;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.02;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.041958;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.00568182;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0416667;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:2200|HGNC:HGNC:3603|MIM:134797;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_000138.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,fibrillin_1;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,FBN1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,FBN1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ACMICD|ECTOL1|FBN|GPHYSD2|MASS|MFLS|MFS1|OCTD|SGS|SSKS|WMS|WMS2;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,fibrillin_1;transcript_id=,NM_000138.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FBN1:NM_000138:exon57:c.G6888A:p.Q2296Q;cytoBand=15q21.1;genomicSuperDups=.;esp6500siv2_all=0.0263;esp6500siv2_ea=0.0172;esp6500siv2_all=0.0263;esp6500siv2_ea=0.0172;1000g2015aug_all=0.0509185;avsnp147=rs363830;Kaviar_AF=0.0285443;Kaviar_AC=4413;Kaviar_AN=154602;ExAC_ALL=0.0296;ExAC_AFR=0.0409;ExAC_AMR=0.0596;ExAC_EAS=0.0796;ExAC_FIN=0.0153;ExAC_NFE=0.0149;ExAC_OTH=0.0166;ExAC_SAS=0.0416;CLNALLELEID=51583;CLNDN=Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED_CT:254090007|MedGen:C0265313,Orphanet:ORPHA3449|MedGen:C1858556,OMIM:604308,Orphanet:ORPHA99715|MedGen:C1861456,OMIM:184900,Orphanet:ORPHA2833|MedGen:C3489726,Orphanet:ORPHA2623|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=2.2409;dpsi_zscore=2.043;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0296;gnomAD_exome_AFR=0.0388;gnomAD_exome_AMR=0.0549;gnomAD_exome_ASJ=0.0141;gnomAD_exome_EAS=0.0739;gnomAD_exome_FIN=0.0136;gnomAD_exome_NFE=0.0155;gnomAD_exome_OTH=0.0306;gnomAD_exome_SAS=0.0399;gnomAD_genome_ALL=0.0245;gnomAD_genome_AFR=0.0392;gnomAD_genome_AMR=0.0465;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0.0553;gnomAD_genome_FIN=0.0175;gnomAD_genome_NFE=0.0137;gnomAD_genome_OTH=0.0204;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . 1:65:0,27 1:63:0,25 . . . . . . . . . . . . . . 15 48722884 42412;rs363836 A G 131.86 . #_unique_end_positions=,19;#_unique_start_positions=,18;AC=2;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0416;AF_ESP_clinvar_20171029_hg19=,0.0263;AF_EXAC_clinvar_20171029_hg19=,0.02966;AF_TGP_clinvar_20171029_hg19=,0.0511;ALLELEID_clinvar_20171029_hg19=,51582;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0231;AN=2;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.9489|0.05112;CLNDISDB_clinvar_20171029_hg19=,MedGen:C0013581|Orphanet:ORPHA1885|SNOMED_CT:74969002|MedGen:C0024796|OMIM:154700|Orphanet:ORPHA558|SNOMED_CT:19346006|MedGen:C0265287|OMIM:102370|Orphanet:ORPHA969|SNOMED_CT:254090007|MedGen:C0265313|Orphanet:ORPHA3449|MedGen:C1858556|OMIM:604308|Orphanet:ORPHA99715|MedGen:C1861456|OMIM:184900|Orphanet:ORPHA2833|MedGen:C3489726|Orphanet:ORPHA2623|MedGen:CN118826|Orphanet:ORPHA91387|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000015.9:g.48722884A>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,ARUP_Laboratories|_Molecular_Genetics_and_Genomics:2622|Illumina_Clinical_Services_Laboratory|Illumina:97105;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000138.4:c.6855T>C;Coding_region_change_in_longest_transcript=,NM_000138.4:c.6855T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0972;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0149;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,24;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,FBN1:2200;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:2200;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:2200;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:3603;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:3603;Homo_sapiens_refseq_GRCh37.p13_Genes=,FBN1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_000138.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene29998;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna42803;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:134797;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:134797;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene29998;QUAL=,140.85358050460027;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,48722884;RS_dbsnp_common_v150_hg19_refseq=,363836;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,22;Read_coverage=,51;Read_direction_test_probability=,0.9851586423544518;Read_position_test_probability=,0.9509360843214939;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_000138.4;Reverse_read_coverage=,27;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0736;SF=26,27;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.964077|0.0359228;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05012800030515053f000101;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.0408163;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.00847458;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.0853659;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.0705882;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.113636;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0333333;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.1;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.0722222;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.02;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.041958;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.00568182;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0416667;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.011;db_xref=,GeneID:2200|HGNC:HGNC:3603|MIM:134797;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_000138.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,fibrillin_1;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,FBN1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,FBN1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ACMICD|ECTOL1|FBN|GPHYSD2|MASS|MFLS|MFS1|OCTD|SGS|SSKS|WMS|WMS2;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,fibrillin_1;transcript_id=,NM_000138.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FBN1:NM_000138:exon56:c.T6855C:p.D2285D;cytoBand=15q21.1;genomicSuperDups=.;esp6500siv2_all=0.0263;esp6500siv2_ea=0.0172;esp6500siv2_all=0.0263;esp6500siv2_ea=0.0172;1000g2015aug_all=0.0511182;avsnp147=rs363836;Kaviar_AF=0.0285507;Kaviar_AC=4414;Kaviar_AN=154602;ExAC_ALL=0.0297;ExAC_AFR=0.0409;ExAC_AMR=0.0597;ExAC_EAS=0.0797;ExAC_FIN=0.0153;ExAC_NFE=0.0149;ExAC_OTH=0.0165;ExAC_SAS=0.0417;CLNALLELEID=51582;CLNDN=Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED_CT:254090007|MedGen:C0265313,Orphanet:ORPHA3449|MedGen:C1858556,OMIM:604308,Orphanet:ORPHA99715|MedGen:C1861456,OMIM:184900,Orphanet:ORPHA2833|MedGen:C3489726,Orphanet:ORPHA2623|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.2273;dpsi_zscore=0.774;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0296;gnomAD_exome_AFR=0.0388;gnomAD_exome_AMR=0.0549;gnomAD_exome_ASJ=0.0141;gnomAD_exome_EAS=0.0741;gnomAD_exome_FIN=0.0136;gnomAD_exome_NFE=0.0155;gnomAD_exome_OTH=0.0309;gnomAD_exome_SAS=0.0399;gnomAD_genome_ALL=0.0245;gnomAD_genome_AFR=0.0392;gnomAD_genome_AMR=0.0465;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0.0551;gnomAD_genome_FIN=0.0175;gnomAD_genome_NFE=0.0137;gnomAD_genome_OTH=0.0204;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . 1:46:0,20 1:57:0,21 . . . . . . . . . . . . . . 15 48726813 36103;rs111844882 G A 200.00 . #_unique_end_positions=,24;#_unique_start_positions=,24;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0008;AF_ESP_clinvar_20171029_hg19=,0.0053;AF_EXAC_clinvar_20171029_hg19=,0.00289;AF_TGP_clinvar_20171029_hg19=,0.0020;ALLELEID_clinvar_20171029_hg19=,44767;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0058;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.07;CAF_dbsnp_common_v150_hg19_refseq=,0.998|0.001997;CLNDISDB_clinvar_20171029_hg19=,MedGen:C0013581|Orphanet:ORPHA1885|SNOMED_CT:74969002|MedGen:C0024796|OMIM:154700|Orphanet:ORPHA558|SNOMED_CT:19346006|MedGen:C0265287|OMIM:102370|Orphanet:ORPHA969|SNOMED_CT:254090007|MedGen:C0265313|Orphanet:ORPHA3449|MedGen:C1858556|OMIM:604308|Orphanet:ORPHA99715|MedGen:C1861456|OMIM:184900|Orphanet:ORPHA2833|MedGen:C3489726|Orphanet:ORPHA2623|MedGen:CN118826|Orphanet:ORPHA91387|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000015.9:g.48726813G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,ARUP_Laboratories|_Molecular_Genetics_and_Genomics:2632|Illumina_Clinical_Services_Laboratory|Illumina:97122;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000138.4:c.6594C>T;Coding_region_change_in_longest_transcript=,NM_000138.4:c.6594C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0050;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,49;GENEINFO_dbsnp_common_v150_hg19_refseq=,FBN1:2200;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:2200;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:2200;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:3603;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:3603;Homo_sapiens_refseq_GRCh37.p13_Genes=,FBN1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_000138.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene29998;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna42803;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:134797;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:134797;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene29998;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,48726813;RS_dbsnp_common_v150_hg19_refseq=,111844882;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,33;Read_coverage=,81;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.757590913408015;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_000138.4;Reverse_read_coverage=,32;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=27;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.996669|0.00333127;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050068000305040436100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.992;db_xref=,GeneID:2200|HGNC:HGNC:3603|MIM:134797;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_000138.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,fibrillin_1;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,FBN1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,FBN1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ACMICD|ECTOL1|FBN|GPHYSD2|MASS|MFLS|MFS1|OCTD|SGS|SSKS|WMS|WMS2;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,fibrillin_1;transcript_id=,NM_000138.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FBN1:NM_000138:exon54:c.C6594T:p.P2198P;cytoBand=15q21.1;genomicSuperDups=.;esp6500siv2_all=0.0053;esp6500siv2_ea=0.0073;esp6500siv2_all=0.0053;esp6500siv2_ea=0.0073;1000g2015aug_all=0.00199681;avsnp147=rs111844882;Kaviar_AF=0.0031177;Kaviar_AC=482;Kaviar_AN=154602;ExAC_ALL=0.0029;ExAC_AFR=0.0010;ExAC_AMR=0.0008;ExAC_EAS=0;ExAC_FIN=0.0024;ExAC_NFE=0.0047;ExAC_OTH=0;ExAC_SAS=0.0002;CLNALLELEID=44767;CLNDN=Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED_CT:254090007|MedGen:C0265313,Orphanet:ORPHA3449|MedGen:C1858556,OMIM:604308,Orphanet:ORPHA99715|MedGen:C1861456,OMIM:184900,Orphanet:ORPHA2833|MedGen:C3489726,Orphanet:ORPHA2623|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.8930;dpsi_zscore=-1.864;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0034;gnomAD_exome_AFR=0.0012;gnomAD_exome_AMR=0.0018;gnomAD_exome_ASJ=0.0037;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0029;gnomAD_exome_NFE=0.0056;gnomAD_exome_OTH=0.0053;gnomAD_exome_SAS=0.0002;gnomAD_genome_ALL=0.0035;gnomAD_genome_AFR=0.0016;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0029;gnomAD_genome_NFE=0.0055;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:74:0,31 . . . . . . . . . . . . . . 15 48748913 42381;rs140649 C T 86.30 . #_unique_end_positions=,19;#_unique_start_positions=,17;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0068;AF_EXAC_clinvar_20171029_hg19=,0.00484;AF_TGP_clinvar_20171029_hg19=,0.0026;ALLELEID_clinvar_20171029_hg19=,51551;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0043;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.36;CAF_dbsnp_common_v150_hg19_refseq=,0.9974|0.002596;CLNDISDB_clinvar_20171029_hg19=,MedGen:C0024796|OMIM:154700|Orphanet:ORPHA558|SNOMED_CT:19346006|MedGen:CN118826|Orphanet:ORPHA91387|MedGen:CN169374|MedGen:CN517202;CLNDN_clinvar_20171029_hg19=,Marfan_syndrome|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|not_provided;CLNHGVS_clinvar_20171029_hg19=,NC_000015.9:g.48748913C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:150332;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000138.4:c.5343G>A;Coding_region_change_in_longest_transcript=,NM_000138.4:c.5343G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0070;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,15;GENEINFO_dbsnp_common_v150_hg19_refseq=,FBN1:2200;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:2200;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:2200;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:3603;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:3603;Homo_sapiens_refseq_GRCh37.p13_Genes=,FBN1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_000138.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene29998;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna42803;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:134797;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:134797;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene29998;QUAL=,86.29924111065466;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,48748913;RS_dbsnp_common_v150_hg19_refseq=,140649;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,28;Read_coverage=,42;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.8952325280444059;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_000138.4;Reverse_read_coverage=,27;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0031;SF=17;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.992513|0.00748678;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050228000305040537000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0166667;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:2200|HGNC:HGNC:3603|MIM:134797;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_000138.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,fibrillin_1;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,FBN1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,FBN1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ACMICD|ECTOL1|FBN|GPHYSD2|MASS|MFLS|MFS1|OCTD|SGS|SSKS|WMS|WMS2;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,fibrillin_1;transcript_id=,NM_000138.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FBN1:NM_000138:exon44:c.G5343A:p.V1781V;cytoBand=15q21.1;genomicSuperDups=.;esp6500siv2_all=0.0068;esp6500siv2_ea=0.0086;esp6500siv2_all=0.0068;esp6500siv2_ea=0.0086;1000g2015aug_all=0.00259585;avsnp147=rs140649;Kaviar_AF=0.0051875;Kaviar_AC=802;Kaviar_AN=154602;ExAC_ALL=0.0048;ExAC_AFR=0.0017;ExAC_AMR=0.0029;ExAC_EAS=0;ExAC_FIN=0.0045;ExAC_NFE=0.0071;ExAC_OTH=0.0044;ExAC_SAS=0.0018;CLNALLELEID=51551;CLNDN=Marfan_syndrome|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1175;dpsi_zscore=0.535;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CS077359#"Marfan_syndrome";gnomAD_exome_ALL=0.0048;gnomAD_exome_AFR=0.0016;gnomAD_exome_AMR=0.0035;gnomAD_exome_ASJ=0.0003;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0044;gnomAD_exome_NFE=0.0078;gnomAD_exome_OTH=0.0049;gnomAD_exome_SAS=0.0018;gnomAD_genome_ALL=0.0056;gnomAD_genome_AFR=0.0013;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0034;gnomAD_genome_NFE=0.0097;gnomAD_genome_OTH=0.0041;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . 1:38:0,24 . . . . . . . . . . . . . . . . . . . . . . . . 15 48757802 36084;rs113115949 G C 200.00 . #_unique_end_positions=,32;#_unique_start_positions=,26;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0008;AF_ESP_clinvar_20171029_hg19=,0.0053;AF_EXAC_clinvar_20171029_hg19=,0.00290;AF_TGP_clinvar_20171029_hg19=,0.0020;ALLELEID_clinvar_20171029_hg19=,44748;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0058;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.03;CAF_dbsnp_common_v150_hg19_refseq=,0.998|.|0.001997;CLNDISDB_clinvar_20171029_hg19=,MedGen:C0013581|Orphanet:ORPHA1885|SNOMED_CT:74969002|MedGen:C0024796|OMIM:154700|Orphanet:ORPHA558|SNOMED_CT:19346006|MedGen:C0265287|OMIM:102370|Orphanet:ORPHA969|SNOMED_CT:254090007|MedGen:C0265313|Orphanet:ORPHA3449|MedGen:C1858556|OMIM:604308|Orphanet:ORPHA99715|MedGen:C1861456|OMIM:184900|Orphanet:ORPHA2833|MedGen:C3489726|Orphanet:ORPHA2623|MedGen:CN118826|Orphanet:ORPHA91387|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000015.9:g.48757802G>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,ARUP_Laboratories|_Molecular_Genetics_and_Genomics:2668|Illumina_Clinical_Services_Laboratory|Illumina:97147;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000138.4:c.4905C>G;Coding_region_change_in_longest_transcript=,NM_000138.4:c.4905C>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0050;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,54;GENEINFO_dbsnp_common_v150_hg19_refseq=,FBN1:2200;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:2200;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:2200;Genotype=,C/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:3603;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:3603;Homo_sapiens_refseq_GRCh37.p13_Genes=,FBN1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_000138.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene29998;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna42803;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:134797;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:134797;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene29998;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,48757802;RS_dbsnp_common_v150_hg19_refseq=,113115949;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,48;Read_coverage=,87;Read_direction_test_probability=,0.991321325724588;Read_position_test_probability=,0.9925163928666709;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_000138.4;Reverse_read_coverage=,33;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=27;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.996669|.|0.00333127;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050268000305040036100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.002;db_xref=,GeneID:2200|HGNC:HGNC:3603|MIM:134797;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_000138.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,fibrillin_1;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,FBN1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,FBN1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ACMICD|ECTOL1|FBN|GPHYSD2|MASS|MFLS|MFS1|OCTD|SGS|SSKS|WMS|WMS2;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,fibrillin_1;transcript_id=,NM_000138.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FBN1:NM_000138:exon40:c.C4905G:p.T1635T;cytoBand=15q21.1;genomicSuperDups=.;esp6500siv2_all=0.0053;esp6500siv2_ea=0.0073;esp6500siv2_all=0.0053;esp6500siv2_ea=0.0073;1000g2015aug_all=0.00199681;avsnp147=rs113115949;Kaviar_AF=0.0031242;Kaviar_AC=483;Kaviar_AN=154602;ExAC_ALL=0.0029;ExAC_AFR=0.0010;ExAC_AMR=0.0008;ExAC_EAS=0;ExAC_FIN=0.0024;ExAC_NFE=0.0047;ExAC_OTH=0;ExAC_SAS=0.0002;CLNALLELEID=44748;CLNDN=Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED_CT:254090007|MedGen:C0265313,Orphanet:ORPHA3449|MedGen:C1858556,OMIM:604308,Orphanet:ORPHA99715|MedGen:C1861456,OMIM:184900,Orphanet:ORPHA2833|MedGen:C3489726,Orphanet:ORPHA2623|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-3.8951;dpsi_zscore=-2.330;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0034;gnomAD_exome_AFR=0.0012;gnomAD_exome_AMR=0.0018;gnomAD_exome_ASJ=0.0037;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0029;gnomAD_exome_NFE=0.0056;gnomAD_exome_OTH=0.0053;gnomAD_exome_SAS=0.0002;gnomAD_genome_ALL=0.0035;gnomAD_genome_AFR=0.0016;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0029;gnomAD_genome_NFE=0.0054;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:76:0,41 . . . . . . . . . . . . . . 15 48779530 36065;rs140598 G C 200.00 . #_unique_end_positions=,41;#_unique_start_positions=,35;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0098;AF_ESP_clinvar_20171029_hg19=,0.0036;AF_EXAC_clinvar_20171029_hg19=,0.02880;AF_TGP_clinvar_20171029_hg19=,0.0597;ALLELEID_clinvar_20171029_hg19=,44729;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0620;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_000129.3:p.Pro1148Ala;Amino_acid_change_in_longest_transcript=,NP_000129.3:p.Pro1148Ala;BaseQRankSum=,-0.04;CAF_dbsnp_common_v150_hg19_refseq=,0.9403|.|0.0597;CLNDISDB_clinvar_20171029_hg19=,.|MedGen:C0024796|OMIM:154700|Orphanet:ORPHA558|SNOMED_CT:19346006|MedGen:CN118826|Orphanet:ORPHA91387|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,FNB1_POLYMORPHISM|Marfan_syndrome|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000015.9:g.48779530G>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,ARUP_Laboratories|_Molecular_Genetics_and_Genomics:20|Illumina_Clinical_Services_Laboratory|Illumina:93572|OMIM_Allelic_Variant:134797.0062;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000138.4:c.3442C>G;Coding_region_change_in_longest_transcript=,NM_000138.4:c.3442C>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2292;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,60;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,FBN1:2200;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:2200;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:2200;Genotype=,C/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:3603;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:3603;Homo_sapiens_refseq_GRCh37.p13_Genes=,FBN1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_000138.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene29998;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna42803;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:134797;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:134797;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene29998;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,48779530;RS_dbsnp_common_v150_hg19_refseq=,140598;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,60;Read_coverage=,134;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9896949281294848;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_000138.4;Reverse_read_coverage=,74;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0112;SF=11;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.988426|.|0.0115736;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050268000a05150537100100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.214286;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.392857;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.00943396;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:2200|HGNC:HGNC:3603|MIM:134797;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_000138.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,fibrillin_1;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,FBN1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,FBN1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ACMICD|ECTOL1|FBN|GPHYSD2|MASS|MFLS|MFS1|OCTD|SGS|SSKS|WMS|WMS2;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,fibrillin_1;transcript_id=,NM_000138.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FBN1:NM_000138:exon28:c.C3442G:p.P1148A;cytoBand=15q21.1;genomicSuperDups=.;esp6500siv2_all=0.0036;esp6500siv2_ea=0.0009;esp6500siv2_all=0.0036;esp6500siv2_ea=0.0009;1000g2015aug_all=0.0597045;avsnp147=rs140598;Kaviar_AF=0.0269531;Kaviar_AC=4167;Kaviar_AN=154602;ExAC_ALL=0.0288;ExAC_AFR=0.0088;ExAC_AMR=0.0766;ExAC_EAS=0.2427;ExAC_FIN=0.0024;ExAC_NFE=0.0014;ExAC_OTH=0.0286;ExAC_SAS=0.0175;CLNALLELEID=44729;CLNDN=FNB1_POLYMORPHISM|Marfan_syndrome|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|Cardiovascular_phenotype;CLNDISDB=.|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.3;SIFT_pred=T;Polyphen2_HDIV_score=0.002;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.011;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=1.115;MutationAssessor_pred=L;FATHMM_score=-2.89;FATHMM_pred=D;PROVEAN_score=-3.9;PROVEAN_pred=D;VEST3_score=0.291;CADD_raw=3.171;CADD_phred=22.7;DANN_score=0.997;fathmm-MKL_coding_score=0.924;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.071;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=5.6;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.966;phastCons20way_mammalian=0.997;SiPhy_29way_logOdds=19.208;GDI_full_10282015=.;dpsi_max_tissue=0.0482;dpsi_zscore=0.290;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:HM0656#"Bicuspid_aortic_valve";gnomAD_exome_ALL=0.0311;gnomAD_exome_AFR=0.0081;gnomAD_exome_AMR=0.0730;gnomAD_exome_ASJ=0.0009;gnomAD_exome_EAS=0.2418;gnomAD_exome_FIN=0.0039;gnomAD_exome_NFE=0.0013;gnomAD_exome_OTH=0.0219;gnomAD_exome_SAS=0.0179;gnomAD_genome_ALL=0.0187;gnomAD_genome_AFR=0.0098;gnomAD_genome_AMR=0.0632;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0.2395;gnomAD_genome_FIN=0.0034;gnomAD_genome_NFE=0.0016;gnomAD_genome_OTH=0.0183;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . . . 1:122:0,53 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 15 48796105 rs183929553 T A 200.00 . #_unique_end_positions=,23;#_unique_start_positions=,25;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AN=1;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.19;Coding_region_change=,NM_000138.4:c.1992A>T;Coding_region_change_in_longest_transcript=,NM_000138.4:c.1992A>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0020;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;Exact_match=,1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,27;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:2200;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:2200;Genotype=,A/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:3603;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:3603;Homo_sapiens_refseq_GRCh37.p13_Genes=,FBN1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_000138.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene29998;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna42803;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:134797;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:134797;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene29998;QUAL=,200.0;Read_count=,33;Read_coverage=,80;Read_direction_test_probability=,0.9504008879801398;Read_position_test_probability=,0.9999780305231794;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_000138.4;Reverse_read_coverage=,53;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=11;conservation_score=,0.997;db_xref=,GeneID:2200|HGNC:HGNC:3603|MIM:134797;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_000138.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,fibrillin_1;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,FBN1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,FBN1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ACMICD|ECTOL1|FBN|GPHYSD2|MASS|MFLS|MFS1|OCTD|SGS|SSKS|WMS|WMS2;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,fibrillin_1;transcript_id=,NM_000138.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FBN1:NM_000138:exon17:c.A1992T:p.G664G;cytoBand=15q21.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.000399361;avsnp147=rs183929553;Kaviar_AF=0.0001164;Kaviar_AC=18;Kaviar_AN=154602;ExAC_ALL=0.0001;ExAC_AFR=0;ExAC_AMR=8.637e-05;ExAC_EAS=0.0016;ExAC_FIN=0;ExAC_NFE=1.498e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-2.4010;dpsi_zscore=-2.015;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0001;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0.0014;gnomAD_exome_FIN=0;gnomAD_exome_NFE=8.955e-06;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=0;gnomAD_genome_ALL=9.684e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0.0018;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:DP:CLCAD2 . . . . . . . . . . . 1:66:0,30 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 15 48797307 42297;rs25458 A G 140.51 . #_unique_end_positions=,16;#_unique_start_positions=,15;AC=10;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5106;AF_ESP_clinvar_20171029_hg19=,0.2444;AF_EXAC_clinvar_20171029_hg19=,0.20059;AF_TGP_clinvar_20171029_hg19=,0.2969;ALLELEID_clinvar_20171029_hg19=,51467;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2046;AN=10;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.47;CAF_dbsnp_common_v150_hg19_refseq=,0.7031|0.2969|.;CLNDISDB_clinvar_20171029_hg19=,MedGen:C0013581|Orphanet:ORPHA1885|SNOMED_CT:74969002|MedGen:C0024796|OMIM:154700|Orphanet:ORPHA558|SNOMED_CT:19346006|MedGen:C0265287|OMIM:102370|Orphanet:ORPHA969|SNOMED_CT:254090007|MedGen:C0265313|Orphanet:ORPHA3449|MedGen:C1858556|OMIM:604308|Orphanet:ORPHA99715|MedGen:C1861456|OMIM:184900|Orphanet:ORPHA2833|MedGen:C3489726|Orphanet:ORPHA2623|MedGen:CN118826|Orphanet:ORPHA91387|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000015.9:g.48797307A>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,ARUP_Laboratories|_Molecular_Genetics_and_Genomics:22|Illumina_Clinical_Services_Laboratory|Illumina:51396;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000138.4:c.1875T>C;Coding_region_change_in_longest_transcript=,NM_000138.4:c.1875T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3522;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1501;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,23;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,FBN1:2200;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:2200;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:2200;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:3603;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:3603;Homo_sapiens_refseq_GRCh37.p13_Genes=,FBN1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_000138.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene29998;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna42803;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:134797;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:134797;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene29998;QUAL=,111.8033565039611;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,48797307;RS_dbsnp_common_v150_hg19_refseq=,25458;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,17;Read_coverage=,42;Read_direction_test_probability=,0.969931005167881;Read_position_test_probability=,0.8313180983219983;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_000138.4;Reverse_read_coverage=,19;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1677;SF=6,10,11,12,26,27,32,35,36,39;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.702589|0.297239|0.000171715;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128000b0517053e000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.968;db_xref=,GeneID:2200|HGNC:HGNC:3603|MIM:134797;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_000138.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,fibrillin_1;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,FBN1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,FBN1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ACMICD|ECTOL1|FBN|GPHYSD2|MASS|MFLS|MFS1|OCTD|SGS|SSKS|WMS|WMS2;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,fibrillin_1;transcript_id=,NM_000138.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FBN1:NM_000138:exon16:c.T1875C:p.N625N;cytoBand=15q21.1;genomicSuperDups=.;esp6500siv2_all=0.2444;esp6500siv2_ea=0.1420;esp6500siv2_all=0.2444;esp6500siv2_ea=0.1420;1000g2015aug_all=0.296925;avsnp147=rs25458;Kaviar_AF=0.195398;Kaviar_AC=30209;Kaviar_AN=154602;ExAC_ALL=0.2006;ExAC_AFR=0.4573;ExAC_AMR=0.2071;ExAC_EAS=0.3527;ExAC_FIN=0.2031;ExAC_NFE=0.1511;ExAC_OTH=0.1751;ExAC_SAS=0.1552;CLNALLELEID=51467;CLNDN=Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED_CT:254090007|MedGen:C0265313,Orphanet:ORPHA3449|MedGen:C1858556,OMIM:604308,Orphanet:ORPHA99715|MedGen:C1861456,OMIM:184900,Orphanet:ORPHA2833|MedGen:C3489726,Orphanet:ORPHA2623|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0743;dpsi_zscore=0.398;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM070116#"Tall_stature_association_with";gnomAD_exome_ALL=0.1919;gnomAD_exome_AFR=0.4606;gnomAD_exome_AMR=0.2000;gnomAD_exome_ASJ=0.0580;gnomAD_exome_EAS=0.3438;gnomAD_exome_FIN=0.2081;gnomAD_exome_NFE=0.1500;gnomAD_exome_OTH=0.1712;gnomAD_exome_SAS=0.1508;gnomAD_genome_ALL=0.2590;gnomAD_genome_AFR=0.4571;gnomAD_genome_AMR=0.1787;gnomAD_genome_ASJ=0.0662;gnomAD_genome_EAS=0.3323;gnomAD_genome_FIN=0.2102;gnomAD_genome_NFE=0.1585;gnomAD_genome_OTH=0.2204;Whole_Blood=Whole_Blood::0.185286::-0.336374;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . 1:38:0,16 . . . 1:59:0,25 1:40:0,16 1:38:0,24 . . . . . . . . . . . . . 1:43:0,17 1:58:0,19 . . . . 1:42:0,20 . . 1:49:0,28 1:61:0,32 . . 1:48:0,23 . . 15 48800870 36041;rs112366266 G A 153.53 . #_unique_end_positions=,19;#_unique_start_positions=,19;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0008;AF_ESP_clinvar_20171029_hg19=,0.0053;AF_EXAC_clinvar_20171029_hg19=,0.00292;AF_TGP_clinvar_20171029_hg19=,0.0020;ALLELEID_clinvar_20171029_hg19=,44705;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0058;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.28;CAF_dbsnp_common_v150_hg19_refseq=,0.998|0.001997;CLNDISDB_clinvar_20171029_hg19=,MedGen:C0013581|Orphanet:ORPHA1885|SNOMED_CT:74969002|MedGen:C0024796|OMIM:154700|Orphanet:ORPHA558|SNOMED_CT:19346006|MedGen:C0265287|OMIM:102370|Orphanet:ORPHA969|SNOMED_CT:254090007|MedGen:C0265313|Orphanet:ORPHA3449|MedGen:C1858556|OMIM:604308|Orphanet:ORPHA99715|MedGen:C1861456|OMIM:184900|Orphanet:ORPHA2833|MedGen:C3489726|Orphanet:ORPHA2623|MedGen:CN118826|Orphanet:ORPHA91387|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000015.9:g.48800870G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,ARUP_Laboratories|_Molecular_Genetics_and_Genomics:2731|Illumina_Clinical_Services_Laboratory|Illumina:97174;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000138.4:c.1746C>T;Coding_region_change_in_longest_transcript=,NM_000138.4:c.1746C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0050;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,18;GENEINFO_dbsnp_common_v150_hg19_refseq=,FBN1:2200;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:2200;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:2200;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:3603;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:3603;Homo_sapiens_refseq_GRCh37.p13_Genes=,FBN1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_000138.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene29998;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna42803;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:134797;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:134797;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene29998;QUAL=,153.5252977886304;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,48800870;RS_dbsnp_common_v150_hg19_refseq=,112366266;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,23;Read_coverage=,49;Read_direction_test_probability=,0.8667293403844876;Read_position_test_probability=,0.919254048850723;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_000138.4;Reverse_read_coverage=,31;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=27;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.996703|0.00329693;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050268000305040436100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:2200|HGNC:HGNC:3603|MIM:134797;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_000138.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,fibrillin_1;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,FBN1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,FBN1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ACMICD|ECTOL1|FBN|GPHYSD2|MASS|MFLS|MFS1|OCTD|SGS|SSKS|WMS|WMS2;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,fibrillin_1;transcript_id=,NM_000138.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FBN1:NM_000138:exon15:c.C1746T:p.C582C;cytoBand=15q21.1;genomicSuperDups=.;esp6500siv2_all=0.0053;esp6500siv2_ea=0.0073;esp6500siv2_all=0.0053;esp6500siv2_ea=0.0073;1000g2015aug_all=0.00199681;avsnp147=rs112366266;Kaviar_AF=0.0031306;Kaviar_AC=484;Kaviar_AN=154602;ExAC_ALL=0.0029;ExAC_AFR=0.0010;ExAC_AMR=0.0008;ExAC_EAS=0;ExAC_FIN=0.0024;ExAC_NFE=0.0047;ExAC_OTH=0;ExAC_SAS=0.0002;CLNALLELEID=44705;CLNDN=Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED_CT:254090007|MedGen:C0265313,Orphanet:ORPHA3449|MedGen:C1858556,OMIM:604308,Orphanet:ORPHA99715|MedGen:C1861456,OMIM:184900,Orphanet:ORPHA2833|MedGen:C3489726,Orphanet:ORPHA2623|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1539;dpsi_zscore=-0.590;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0034;gnomAD_exome_AFR=0.0012;gnomAD_exome_AMR=0.0018;gnomAD_exome_ASJ=0.0037;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0029;gnomAD_exome_NFE=0.0056;gnomAD_exome_OTH=0.0053;gnomAD_exome_SAS=0.0003;gnomAD_genome_ALL=0.0034;gnomAD_genome_AFR=0.0015;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0029;gnomAD_genome_NFE=0.0054;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:46:0,21 . . . . . . . . . . . . . . 15 48807637 228314;rs4775765 C T 188.23 . #_unique_end_positions=,59;#_unique_start_positions=,50;AC=84;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,1.0000;ALLELEID_clinvar_20171029_hg19=,230590;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,1.0000;AN=84;Amino_acid_change=,NP_000129.3:p.Cys472Tyr;Amino_acid_change_in_longest_transcript=,NP_000129.3:p.Cys472Tyr;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000015.9:g.48807637C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_single_submitter;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,ARUP_Laboratories|_Molecular_Genetics_and_Genomics:23;Coding_region_change=,NM_000138.4:c.1415G>A;Coding_region_change_in_longest_transcript=,NM_000138.4:c.1415G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,1.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,1.0000;Exact_match=,clinvar_20171029_hg19|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,71;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:2200;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:2200;Genotype=,T/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:3603;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:3603;Homo_sapiens_refseq_GRCh37.p13_Genes=,FBN1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_000138.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene29998;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna42803;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:134797;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:134797;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene29998;QUAL=,200.0;Read_count=,113;Read_coverage=,113;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_000138.4;Reverse_read_coverage=,42;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,1.0000;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,1;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,1;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,1;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,1;conservation_score=,1.0;db_xref=,GeneID:2200|HGNC:HGNC:3603|MIM:134797;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_000138.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,fibrillin_1;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,FBN1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,FBN1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ACMICD|ECTOL1|FBN|GPHYSD2|MASS|MFLS|MFS1|OCTD|SGS|SSKS|WMS|WMS2;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,fibrillin_1;transcript_id=,NM_000138.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FBN1:NM_000138:exon12:c.G1415A:p.C472Y;cytoBand=15q21.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=1;avsnp147=rs4775765;Kaviar_AF=0.938235;Kaviar_AC=145053;Kaviar_AN=154602;ExAC_ALL=1;ExAC_AFR=1;ExAC_AMR=1;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=1;ExAC_OTH=1;ExAC_SAS=1;CLNALLELEID=230590;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=2.0758;dpsi_zscore=1.990;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=1;gnomAD_exome_AFR=1;gnomAD_exome_AMR=1;gnomAD_exome_ASJ=1;gnomAD_exome_EAS=1;gnomAD_exome_FIN=1;gnomAD_exome_NFE=1;gnomAD_exome_OTH=1;gnomAD_exome_SAS=1;gnomAD_genome_ALL=1;gnomAD_genome_AFR=1;gnomAD_genome_AMR=1;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=1;gnomAD_genome_FIN=1;gnomAD_genome_NFE=1;gnomAD_genome_OTH=1;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1/1:95:0,95 1/1:85:0,85 1/1:113:0,113 1/1:88:0,88 1/1:78:0,78 1/1:96:0,96 1/1:56:0,56 1/1:75:0,75 1/1:91:0,91 1/1:108:0,108 1/1:115:0,115 1/1:104:0,104 1/1:105:0,105 1/1:84:0,84 1/1:123:0,123 1/1:102:0,102 1/1:108:0,108 1/1:106:0,106 1/1:86:0,86 1/1:107:0,107 1/1:92:0,92 1/1:114:0,114 1/1:124:0,124 1/1:114:0,114 1/1:122:0,122 1/1:79:0,79 1/1:75:0,75 1/1:130:0,130 1/1:114:0,114 1/1:116:0,116 1/1:116:0,116 1/1:73:0,73 1/1:95:0,95 1/1:61:0,61 1/1:110:0,110 1/1:92:0,92 1/1:74:0,74 1/1:66:0,66 1/1:81:0,81 1/1:104:0,104 1/1:99:0,99 1/1:95:0,95 15 48936940 385381 G A 200.00 . #_unique_end_positions=,19;#_unique_start_positions=,20;AC=1;ALLELEID_clinvar_20171029_hg19=,376519;AN=1;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000015.9:g.48936940G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_single_submitter;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;Coding_region_change=,NM_000138.4:c.27C>T;Coding_region_change_in_longest_transcript=,NM_000138.4:c.27C>T;Exact_match=,clinvar_20171029_hg19;Forward_read_coverage=,19;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:2200;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:2200;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:3603;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:3603;Homo_sapiens_refseq_GRCh37.p13_Genes=,FBN1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_000138.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene29998;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna42803;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:134797;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:134797;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene29998;QUAL=,200.0;Read_count=,51;Read_coverage=,91;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.7456908733840686;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_000138.4;Reverse_read_coverage=,72;SF=22;conservation_score=,0.914;db_xref=,GeneID:2200|HGNC:HGNC:3603|MIM:134797;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_000138.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,fibrillin_1;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,FBN1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,FBN1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ACMICD|ECTOL1|FBN|GPHYSD2|MASS|MFLS|MFS1|OCTD|SGS|SSKS|WMS|WMS2;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,fibrillin_1;transcript_id=,NM_000138.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FBN1:NM_000138:exon2:c.C27T:p.I9I;cytoBand=15q21.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=376519;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.2259;dpsi_zscore=-0.735;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . 1:74:0,40 . . . . . . . . . . . . . . . . . . . 15 63340705 rs111470259 C T 187.63 . #_unique_end_positions=,27;#_unique_start_positions=,20;AC=4;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0537;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1715;AN=4;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.47;CAF_dbsnp_common_v150_hg19_refseq=,0.7891|0.2109;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000366.5:c.240+4354C>T|_NM_001018004.1:c.240+4354C>T|_NM_001018005.1:c.240+4354C>T|_NM_001018006.1:c.240+4354C>T|_NM_001018007.1:c.240+4675C>T|_NM_001018008.1:c.-70C>T|_NM_001018020.1:c.240+4675C>T|_NM_001301244.1:c.240+4675C>T|_NM_001301289.1:c.-70C>T|_NM_001330344.1:c.-70C>T|_NM_001330346.1:c.-70C>T|_NM_001330351.1:c.-70C>T;Coding_region_change_in_longest_transcript=,NM_001330351.1:c.-70C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4345;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0954;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,69;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TPM1:7168;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7168;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7168;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12010;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12010;Homo_sapiens_refseq_GRCh37.p13_Genes=,TPM1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001330346.1|NM_001330351.1|NM_001330344.1|NM_001018008.1|NM_001301289.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene30174;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna43079|rna43077|rna43078|rna43081|rna43080;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:191010;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:191010;Non-synonymous=,-;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene30174;QUAL=,150.5149978319906;RSPOS_dbsnp_common_v150_hg19_refseq=,63340705;RS_dbsnp_common_v150_hg19_refseq=,111470259;Read_count=,50;Read_coverage=,78;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.855447505914303;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001330346.1|NM_001330351.1|NM_001330344.1|NM_001018008.1|NM_001301289.1;Reverse_read_coverage=,9;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3395;SF=2,6,19,24;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.89649|0.10351;U5_dbsnp_common_v150_hg19_refseq=,U5;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050100480005170136000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.0;db_xref=,GeneID:7168|HGNC:HGNC:12010|MIM:191010;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001330346.1|Genbank:NM_001330351.1|Genbank:NM_001330344.1|Genbank:NM_001018008.1|Genbank:NM_001301289.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,tropomyosin_1_(alpha);gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TPM1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TPM1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,C15orf13|CMD1Y|CMH3|HEL-S-265|HTM-alpha|LVNC9|TMSA;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,tropomyosin_1_(alpha)|_transcript_variant_Tpm1.13|tropomyosin_1_(alpha)|_transcript_variant_12|tropomyosin_1_(alpha)|_transcript_variant_Tpm1.9|tropomyosin_1_(alpha)|_transcript_variant_Tpm1.12|tropomyosin_1_(alpha)|_transcript_variant_Tpm1.8;transcript_id=,NM_001330346.1|NM_001330351.1|NM_001330344.1|NM_001018008.1|NM_001301289.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR5;Gene.refGene=TPM1;GeneDetail.refGene=NM_001018008:c.-70C>T,NM_001301289:c.-70C>T;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=15q22.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.210863;avsnp147=rs111470259;Kaviar_AF=0.0403552;Kaviar_AC=6239;Kaviar_AN=154602;ExAC_ALL=0.3746;ExAC_AFR=0.1970;ExAC_AMR=0.3056;ExAC_EAS=0.5375;ExAC_FIN=.;ExAC_NFE=0.2097;ExAC_OTH=0.3182;ExAC_SAS=0.4054;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1887;gnomAD_exome_AFR=0.0735;gnomAD_exome_AMR=0.1775;gnomAD_exome_ASJ=0.0829;gnomAD_exome_EAS=0.4718;gnomAD_exome_FIN=0.1285;gnomAD_exome_NFE=0.1126;gnomAD_exome_OTH=0.1397;gnomAD_exome_SAS=0.3134;gnomAD_genome_ALL=0.1273;gnomAD_genome_AFR=0.0795;gnomAD_genome_AMR=0.1582;gnomAD_genome_ASJ=0.0662;gnomAD_genome_EAS=0.4361;gnomAD_genome_FIN=0.1325;gnomAD_genome_NFE=0.1194;gnomAD_genome_OTH=0.1380;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . 1:70:0,44 . . . 1:75:0,45 . . . . . . . . . . . . 1:92:0,38 . . . . 1:69:0,42 . . . . . . . . . . . . . . . . . 15 63351840 31888;rs1071646 C A 161.74 . #_unique_end_positions=,27;#_unique_start_positions=,23;AC=49;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6112;ALLELEID_clinvar_20171029_hg19=,40548;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5591;AN=49;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.19;CAF_dbsnp_common_v150_hg19_refseq=,0.2943|0.7057;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|not_provided;CLNHGVS_clinvar_20171029_hg19=,NC_000015.9:g.63351840C>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:15371|Leiden_Muscular_Dystrophy_pages_(TPM1):TPM1_00019;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000366.5:c.453C>A|_NM_001018004.1:c.453C>A|_NM_001018005.1:c.453C>A|_NM_001018006.1:c.453C>A|_NM_001018007.1:c.453C>A|_NM_001018008.1:c.345C>A|_NM_001018020.1:c.453C>A|_NM_001301244.1:c.453C>A|_NM_001301289.1:c.345C>A|_NM_001330344.1:c.345C>A|_NM_001330346.1:c.345C>A|_NM_001330351.1:c.345C>A;Coding_region_change_in_longest_transcript=,NM_001330351.1:c.345C>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9504;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6600;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,21;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TPM1:7168;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7168;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7168;Genotype=,A/C;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12010;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12010;Homo_sapiens_refseq_GRCh37.p13_Genes=,TPM1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001301244.1|NM_000366.5|NM_001018005.1|NM_001018020.1|NM_001018007.1|NM_001018006.1|NM_001018004.1|NM_001330346.1|NM_001330351.1|NM_001330344.1|NM_001018008.1|NM_001301289.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene30174;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna43074|rna43075|rna43076|rna43070|rna43071|rna43072|rna43073|rna43079|rna43077|rna43078|rna43081|rna43080;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:191010;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:191010;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene30174;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,63351840;RS_dbsnp_common_v150_hg19_refseq=,1071646;Read_count=,40;Read_coverage=,69;Read_direction_test_probability=,0.37788726680534446;Read_position_test_probability=,0.14045858948868184;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001301244.1|NM_000366.5|NM_001018005.1|NM_001018020.1|NM_001018007.1|NM_001018006.1|NM_001018004.1|NM_001330346.1|NM_001330351.1|NM_001330344.1|NM_001018008.1|NM_001301289.1;Reverse_read_coverage=,48;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7321;SF=1,2,3,4,5,6,7,8,9,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,30,31,32,33,34,35,36,38,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.356917|0.643083;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05036800030515053f100100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.663265;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.641593;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.926829;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.964706;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.767045;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.976744;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.953488;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.516854;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.57;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.562937;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.596591;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.530973;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:7168|HGNC:HGNC:12010|MIM:191010;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001301244.1|Genbank:NM_000366.5|Genbank:NM_001018005.1|Genbank:NM_001018020.1|Genbank:NM_001018007.1|Genbank:NM_001018006.1|Genbank:NM_001018004.1|Genbank:NM_001330346.1|Genbank:NM_001330351.1|Genbank:NM_001330344.1|Genbank:NM_001018008.1|Genbank:NM_001301289.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,tropomyosin_1_(alpha);gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TPM1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TPM1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,C15orf13|CMD1Y|CMH3|HEL-S-265|HTM-alpha|LVNC9|TMSA;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,tropomyosin_1_(alpha)|_transcript_variant_Tpm1.2|tropomyosin_1_(alpha)|_transcript_variant_Tpm1.5|tropomyosin_1_(alpha)|_transcript_variant_Tpm1.1|tropomyosin_1_(alpha)|_transcript_variant_Tpm1.3|tropomyosin_1_(alpha)|_transcript_variant_Tpm1.4|tropomyosin_1_(alpha)|_transcript_variant_Tpm1.7|tropomyosin_1_(alpha)|_transcript_variant_Tpm1.6|tropomyosin_1_(alpha)|_transcript_variant_Tpm1.13|tropomyosin_1_(alpha)|_transcript_variant_12|tropomyosin_1_(alpha)|_transcript_variant_Tpm1.9|tropomyosin_1_(alpha)|_transcript_variant_Tpm1.12|tropomyosin_1_(alpha)|_transcript_variant_Tpm1.8;transcript_id=,NM_001301244.1|NM_000366.5|NM_001018005.1|NM_001018020.1|NM_001018007.1|NM_001018006.1|NM_001018004.1|NM_001330346.1|NM_001330351.1|NM_001330344.1|NM_001018008.1|NM_001301289.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TPM1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TPM1:NM_001018008:exon3:c.C345A:p.A115A,TPM1:NM_001301289:exon3:c.C345A:p.A115A,TPM1:NM_000366:exon4:c.C453A:p.A151A,TPM1:NM_001018004:exon4:c.C453A:p.A151A,TPM1:NM_001018005:exon4:c.C453A:p.A151A,TPM1:NM_001018006:exon4:c.C453A:p.A151A,TPM1:NM_001018007:exon4:c.C453A:p.A151A,TPM1:NM_001018020:exon4:c.C453A:p.A151A,TPM1:NM_001301244:exon4:c.C453A:p.A151A;cytoBand=15q22.2;genomicSuperDups=.;esp6500siv2_all=0.6357;esp6500siv2_ea=0.6458;esp6500siv2_all=0.6357;esp6500siv2_ea=0.6458;1000g2015aug_all=0.705671;avsnp147=rs1071646;Kaviar_AF=0.669267;Kaviar_AC=103470;Kaviar_AN=154602;ExAC_ALL=0.6737;ExAC_AFR=0.6163;ExAC_AMR=0.5628;ExAC_EAS=0.9575;ExAC_FIN=0.6981;ExAC_NFE=0.6546;ExAC_OTH=0.6707;ExAC_SAS=0.7060;CLNALLELEID=40548;CLNDN=Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0144;dpsi_zscore=-0.068;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.6702;gnomAD_exome_AFR=0.6157;gnomAD_exome_AMR=0.5547;gnomAD_exome_ASJ=0.6603;gnomAD_exome_EAS=0.9583;gnomAD_exome_FIN=0.7008;gnomAD_exome_NFE=0.6527;gnomAD_exome_OTH=0.6742;gnomAD_exome_SAS=0.7053;gnomAD_genome_ALL=0.6615;gnomAD_genome_AFR=0.6124;gnomAD_genome_AMR=0.5610;gnomAD_genome_ASJ=0.6490;gnomAD_genome_EAS=0.9604;gnomAD_genome_FIN=0.6959;gnomAD_genome_NFE=0.6548;gnomAD_genome_OTH=0.6741;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 . 1:62:0,35 1/1:34:0,34 1:44:0,17 1:40:0,22 1:32:0,15 1:44:0,23 1:51:0,30 1:56:0,26 1:42:0,25 . 1:50:0,29 1:47:0,25 1:61:0,31 1/1:59:0,59 1/1:51:0,51 1:55:0,27 1:56:0,30 1/1:43:0,43 1:46:0,23 1:54:0,26 1:50:0,18 1:64:0,33 1/1:55:0,55 1/1:49:0,49 1:33:0,19 1/1:50:0,50 1:66:0,20 1:76:0,35 . 1:51:0,19 1:38:0,19 1:53:0,25 1/1:44:0,44 1:54:0,23 1/1:37:0,37 1:29:0,13 . 1/1:39:0,39 1:55:0,30 1/1:44:0,44 1:44:0,25 15 63351873 31889;rs11558747 T C 122.00 . #_unique_end_positions=,14;#_unique_start_positions=,13;AC=10;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0015;AF_ESP_clinvar_20171029_hg19=,0.0509;AF_EXAC_clinvar_20171029_hg19=,0.05331;AF_TGP_clinvar_20171029_hg19=,0.0242;ALLELEID_clinvar_20171029_hg19=,40549;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0447;AN=10;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.06;CAF_dbsnp_common_v150_hg19_refseq=,0.9758|0.02416;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|not_provided;CLNHGVS_clinvar_20171029_hg19=,NC_000015.9:g.63351873T>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_conflicting_interpretations;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Genetics_Diagnostic_Laboratory|Children's_Hospital_of_Eastern_Ontario_(CHEO):340933|Illumina_Clinical_Services_Laboratory|Illumina:51093|Leiden_Muscular_Dystrophy_pages_(TPM1):TPM1_00020;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000366.5:c.486T>C|_NM_001018004.1:c.486T>C|_NM_001018005.1:c.486T>C|_NM_001018006.1:c.486T>C|_NM_001018007.1:c.486T>C|_NM_001018008.1:c.378T>C|_NM_001018020.1:c.486T>C|_NM_001301244.1:c.486T>C|_NM_001301289.1:c.378T>C|_NM_001330344.1:c.378T>C|_NM_001330346.1:c.378T>C|_NM_001330351.1:c.378T>C;Coding_region_change_in_longest_transcript=,NM_001330351.1:c.378T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0676;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,8;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TPM1:7168;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7168;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7168;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12010;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12010;Homo_sapiens_refseq_GRCh37.p13_Genes=,TPM1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001301244.1|NM_000366.5|NM_001018005.1|NM_001018020.1|NM_001018007.1|NM_001018006.1|NM_001018004.1|NM_001330346.1|NM_001330351.1|NM_001330344.1|NM_001018008.1|NM_001301289.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene30174;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna43074|rna43075|rna43076|rna43070|rna43071|rna43072|rna43073|rna43079|rna43077|rna43078|rna43081|rna43080;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:191010;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:191010;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene30174;QUAL=,124.99440249011175;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,63351873;RS_dbsnp_common_v150_hg19_refseq=,11558747;Read_count=,18;Read_coverage=,39;Read_direction_test_probability=,0.7395476260757365;Read_position_test_probability=,0.4432753166686084;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001301244.1|NM_000366.5|NM_001018005.1|NM_001018020.1|NM_001018007.1|NM_001018006.1|NM_001018004.1|NM_001330346.1|NM_001330351.1|NM_001330344.1|NM_001018008.1|NM_001301289.1;Reverse_read_coverage=,31;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0204;SF=6,10,12,20,27,28,29,31,36,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.963768|0.0362319;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050368000305150436100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:7168|HGNC:HGNC:12010|MIM:191010;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001301244.1|Genbank:NM_000366.5|Genbank:NM_001018005.1|Genbank:NM_001018020.1|Genbank:NM_001018007.1|Genbank:NM_001018006.1|Genbank:NM_001018004.1|Genbank:NM_001330346.1|Genbank:NM_001330351.1|Genbank:NM_001330344.1|Genbank:NM_001018008.1|Genbank:NM_001301289.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,tropomyosin_1_(alpha);gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TPM1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TPM1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,C15orf13|CMD1Y|CMH3|HEL-S-265|HTM-alpha|LVNC9|TMSA;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,tropomyosin_1_(alpha)|_transcript_variant_Tpm1.2|tropomyosin_1_(alpha)|_transcript_variant_Tpm1.5|tropomyosin_1_(alpha)|_transcript_variant_Tpm1.1|tropomyosin_1_(alpha)|_transcript_variant_Tpm1.3|tropomyosin_1_(alpha)|_transcript_variant_Tpm1.4|tropomyosin_1_(alpha)|_transcript_variant_Tpm1.7|tropomyosin_1_(alpha)|_transcript_variant_Tpm1.6|tropomyosin_1_(alpha)|_transcript_variant_Tpm1.13|tropomyosin_1_(alpha)|_transcript_variant_12|tropomyosin_1_(alpha)|_transcript_variant_Tpm1.9|tropomyosin_1_(alpha)|_transcript_variant_Tpm1.12|tropomyosin_1_(alpha)|_transcript_variant_Tpm1.8;transcript_id=,NM_001301244.1|NM_000366.5|NM_001018005.1|NM_001018020.1|NM_001018007.1|NM_001018006.1|NM_001018004.1|NM_001330346.1|NM_001330351.1|NM_001330344.1|NM_001018008.1|NM_001301289.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TPM1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TPM1:NM_001018008:exon3:c.T378C:p.Y126Y,TPM1:NM_001301289:exon3:c.T378C:p.Y126Y,TPM1:NM_000366:exon4:c.T486C:p.Y162Y,TPM1:NM_001018004:exon4:c.T486C:p.Y162Y,TPM1:NM_001018005:exon4:c.T486C:p.Y162Y,TPM1:NM_001018006:exon4:c.T486C:p.Y162Y,TPM1:NM_001018007:exon4:c.T486C:p.Y162Y,TPM1:NM_001018020:exon4:c.T486C:p.Y162Y,TPM1:NM_001301244:exon4:c.T486C:p.Y162Y;cytoBand=15q22.2;genomicSuperDups=.;esp6500siv2_all=0.0509;esp6500siv2_ea=0.0713;esp6500siv2_all=0.0509;esp6500siv2_ea=0.0713;1000g2015aug_all=0.0241613;avsnp147=rs11558747;Kaviar_AF=0.0524314;Kaviar_AC=8106;Kaviar_AN=154602;ExAC_ALL=0.0533;ExAC_AFR=0.0104;ExAC_AMR=0.0226;ExAC_EAS=0;ExAC_FIN=0.0957;ExAC_NFE=0.0766;ExAC_OTH=0.0773;ExAC_SAS=0.0172;CLNALLELEID=40549;CLNDN=Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0211;dpsi_zscore=0.142;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0548;gnomAD_exome_AFR=0.0093;gnomAD_exome_AMR=0.0332;gnomAD_exome_ASJ=0.1055;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0999;gnomAD_exome_NFE=0.0719;gnomAD_exome_OTH=0.0640;gnomAD_exome_SAS=0.0191;gnomAD_genome_ALL=0.0529;gnomAD_genome_AFR=0.0100;gnomAD_genome_AMR=0.0525;gnomAD_genome_ASJ=0.1093;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0942;gnomAD_genome_NFE=0.0714;gnomAD_genome_OTH=0.0764;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:DP:CLCAD2 . . . . . . 1:38:0,17 . . . 1:45:0,16 . 1:36:0,19 . . . . . . . 1:49:0,27 . . . . . . 1:66:0,48 1:60:0,36 1:54:0,30 . 1:38:0,18 . . . . 1:30:0,17 . . . . 1:33:0,12 15 66679691 40739 C T 109.38 . #_unique_end_positions=,13;#_unique_start_positions=,13;AC=1;AF_EXAC_clinvar_20171029_hg19=,0.00014;ALLELEID_clinvar_20171029_hg19=,49209;AN=1;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.32;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000015.9:g.66679691C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_single_submitter;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;Coding_region_change=,NM_002755.3:c.6C>T;Coding_region_change_in_longest_transcript=,NM_002755.3:c.6C>T;Exact_match=,clinvar_20171029_hg19;Forward_read_coverage=,42;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:5604;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:5604;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:6840;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:6840;Homo_sapiens_refseq_GRCh37.p13_Genes=,MAP2K1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_002755.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene30239;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna43209;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:176872;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:176872;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene30239;QUAL=,109.38375681182833;Read_count=,19;Read_coverage=,48;Read_direction_test_probability=,0.97892676810674;Read_position_test_probability=,0.9337485893996265;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_002755.3;Reverse_read_coverage=,6;SF=33;conservation_score=,1.0;db_xref=,GeneID:5604|HGNC:HGNC:6840|MIM:176872;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:01469;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_002755.3|HPRD:01469;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,mitogen-activated_protein_kinase_kinase_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MAP2K1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MAP2K1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CFC3|MAPKK1|MEK1|MKK1|PRKMK1;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mitogen-activated_protein_kinase_kinase_1;transcript_id=,NM_002755.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MAP2K1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MAP2K1:NM_002755:exon1:c.C6T:p.P2P;cytoBand=15q22.31;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs377720622;Kaviar_AF=7.12e-05;Kaviar_AC=11;Kaviar_AN=154602;ExAC_ALL=0.0001;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0003;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=49209;CLNDN=Rasopathy|not_specified;CLNDISDB=MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0001;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=6.387e-05;gnomAD_exome_NFE=0.0002;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0003;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0005;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:43:0,17 . . . . . . . . 15 66777345 40754;rs17586159 G A 200.00 . #_unique_end_positions=,28;#_unique_start_positions=,32;AC=2;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0015;AF_ESP_clinvar_20171029_hg19=,0.0149;AF_EXAC_clinvar_20171029_hg19=,0.01132;AF_TGP_clinvar_20171029_hg19=,0.0054;ALLELEID_clinvar_20171029_hg19=,49224;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0086;AN=2;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.23;CAF_dbsnp_common_v150_hg19_refseq=,0.9946|0.005391;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN166718|Orphanet:ORPHA98733|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Rasopathy|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000015.9:g.66777345G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_002755.3:c.711G>A;Coding_region_change_in_longest_transcript=,NM_002755.3:c.711G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0169;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI;Forward_read_coverage=,72;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,MAP2K1:5604;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:5604;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:5604;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:6840;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:6840;Homo_sapiens_refseq_GRCh37.p13_Genes=,MAP2K1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_002755.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene30239;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna43209;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:176872;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:176872;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene30239;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,66777345;RS_dbsnp_common_v150_hg19_refseq=,17586159;Read_count=,47;Read_coverage=,81;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9727056500052218;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_002755.3;Reverse_read_coverage=,9;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0020;SF=35,39;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.989697|0.0103029;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05032808030505053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.0204082;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.039823;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.011236;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.00364964;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.0113636;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.746;db_xref=,GeneID:5604|HGNC:HGNC:6840|MIM:176872;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:01469;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_002755.3|HPRD:01469;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,mitogen-activated_protein_kinase_kinase_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MAP2K1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MAP2K1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CFC3|MAPKK1|MEK1|MKK1|PRKMK1;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mitogen-activated_protein_kinase_kinase_1;transcript_id=,NM_002755.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MAP2K1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MAP2K1:NM_002755:exon7:c.G711A:p.G237G;cytoBand=15q22.31;genomicSuperDups=.;esp6500siv2_all=0.0149;esp6500siv2_ea=0.0207;esp6500siv2_all=0.0149;esp6500siv2_ea=0.0207;1000g2015aug_all=0.00539137;avsnp147=rs17586159;Kaviar_AF=0.0113582;Kaviar_AC=1756;Kaviar_AN=154602;ExAC_ALL=0.0113;ExAC_AFR=0.0032;ExAC_AMR=0.0061;ExAC_EAS=0.0001;ExAC_FIN=0.0064;ExAC_NFE=0.0169;ExAC_OTH=0.0088;ExAC_SAS=0.0055;CLNALLELEID=49224;CLNDN=Rasopathy|not_specified;CLNDISDB=MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0401;dpsi_zscore=0.250;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0116;gnomAD_exome_AFR=0.0026;gnomAD_exome_AMR=0.0073;gnomAD_exome_ASJ=0.0183;gnomAD_exome_EAS=5.798e-05;gnomAD_exome_FIN=0.0064;gnomAD_exome_NFE=0.0178;gnomAD_exome_OTH=0.0124;gnomAD_exome_SAS=0.0058;gnomAD_genome_ALL=0.0112;gnomAD_genome_AFR=0.0044;gnomAD_genome_AMR=0.0084;gnomAD_genome_ASJ=0.0166;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0080;gnomAD_genome_NFE=0.0174;gnomAD_genome_OTH=0.0092;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:74:0,42 . . . 1:99:0,60 . . 15 73614834 95285;rs529004 T C 186.16 . #_unique_end_positions=,21;#_unique_start_positions=,18;AC=73;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7269;ALLELEID_clinvar_20171029_hg19=,101184;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9539;AN=73;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.07;CAF_dbsnp_common_v150_hg19_refseq=,0.1404|.|0.8596;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000015.9:g.73614834T>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_005477.2:c.3600A>G;Coding_region_change_in_longest_transcript=,NM_005477.2:c.3600A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.8790;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9374;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,59;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,HCN4:10021;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:10021;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:10021;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:16882;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:16882;Homo_sapiens_refseq_GRCh37.p13_Genes=,HCN4;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_005477.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene30349;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna43411;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:605206;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:605206;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene30349;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,73614834;RS_dbsnp_common_v150_hg19_refseq=,529004;Read_count=,29;Read_coverage=,77;Read_direction_test_probability=,0.9205614150909603;Read_position_test_probability=,0.5592950123779576;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_005477.2;Reverse_read_coverage=,18;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.8722;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.147984|.|0.852016;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05012800030515053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.755102;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.942478;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.878049;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.905882;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.903409;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.883721;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.889535;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.65;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.95;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.77972;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.948864;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.734513;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.991;db_xref=,GeneID:10021|HGNC:HGNC:16882|MIM:605206;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:09240;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_005477.2|HPRD:09240;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,hyperpolarization_activated_cyclic_nucleotide_gated_potassium_channel_4;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HCN4;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HCN4;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SSS2;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,hyperpolarization_activated_cyclic_nucleotide_gated_potassium_channel_4;transcript_id=,NM_005477.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=HCN4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=HCN4:NM_005477:exon8:c.A3600G:p.P1200P;cytoBand=15q24.1;genomicSuperDups=.;esp6500siv2_all=0.8752;esp6500siv2_ea=0.9344;esp6500siv2_all=0.8752;esp6500siv2_ea=0.9344;1000g2015aug_all=0.859625;avsnp147=rs529004;Kaviar_AF=0.88158;Kaviar_AC=136294;Kaviar_AN=154602;ExAC_ALL=0.9026;ExAC_AFR=0.7677;ExAC_AMR=0.9643;ExAC_EAS=0.8841;ExAC_FIN=0.9437;ExAC_NFE=0.9274;ExAC_OTH=0.8891;ExAC_SAS=0.8458;CLNALLELEID=101184;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.9077;gnomAD_exome_AFR=0.7486;gnomAD_exome_AMR=0.9606;gnomAD_exome_ASJ=0.8803;gnomAD_exome_EAS=0.8836;gnomAD_exome_FIN=0.9334;gnomAD_exome_NFE=0.9315;gnomAD_exome_OTH=0.9236;gnomAD_exome_SAS=0.8405;gnomAD_genome_ALL=0.8876;gnomAD_genome_AFR=0.7704;gnomAD_genome_AMR=0.9463;gnomAD_genome_ASJ=0.8833;gnomAD_genome_EAS=0.8809;gnomAD_genome_FIN=0.9390;gnomAD_genome_NFE=0.9391;gnomAD_genome_OTH=0.9213;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:72:0,28 1/1:100:0,100 1/1:118:0,118 1/1:99:0,99 1/1:86:0,86 1:114:0,58 1/1:89:0,89 1/1:114:0,114 1/1:124:0,124 1/1:133:0,133 1/1:165:0,165 1/1:129:0,129 1/1:118:0,118 1/1:120:0,120 1:159:0,84 1/1:126:0,126 1/1:117:0,117 1/1:110:0,110 1/1:91:0,91 1/1:109:0,109 1/1:125:0,125 1/1:159:0,159 1/1:121:0,121 1:137:0,73 1/1:163:0,163 1/1:99:0,99 1/1:117:0,117 1:174:0,64 1:152:0,77 1:139:0,66 1:123:0,52 1/1:44:0,44 1/1:110:0,110 1/1:104:0,103 1/1:120:0,120 1/1:104:0,104 1/1:89:0,89 1:105:0,47 1:91:0,41 1/1:106:0,106 1/1:114:0,114 1:115:0,47 15 73615097 137543;rs142735148 T C 200.00 . #_unique_end_positions=,47;#_unique_start_positions=,43;AC=3;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0068;AF_ESP_clinvar_20171029_hg19=,0.0106;AF_EXAC_clinvar_20171029_hg19=,0.02475;AF_TGP_clinvar_20171029_hg19=,0.0082;ALLELEID_clinvar_20171029_hg19=,141246;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0086;AN=3;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_005468.1:p.Met1113Val;Amino_acid_change_in_longest_transcript=,NP_005468.1:p.Met1113Val;BaseQRankSum=,0.51;CAF_dbsnp_common_v150_hg19_refseq=,0.9918|0.008187;CLNDISDB_clinvar_20171029_hg19=,MedGen:C2751083|OMIM:613123|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Brugada_syndrome_8|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000015.9:g.73615097T>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_005477.2:c.3337A>G;Coding_region_change_in_longest_transcript=,NM_005477.2:c.3337A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0129;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,54;GENEINFO_dbsnp_common_v150_hg19_refseq=,HCN4:10021;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:10021;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:10021;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:16882;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:16882;Homo_sapiens_refseq_GRCh37.p13_Genes=,HCN4;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_005477.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene30349;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna43411;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:605206;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:605206;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene30349;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,73615097;RS_dbsnp_common_v150_hg19_refseq=,142735148;Read_count=,111;Read_coverage=,249;Read_direction_test_probability=,0.9985401254507357;Read_position_test_probability=,0.9198517988415389;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_005477.2;Reverse_read_coverage=,195;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0133;SF=23,30,38;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.98822|0.0117797;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050168000a05040036100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.26;db_xref=,GeneID:10021|HGNC:HGNC:16882|MIM:605206;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:09240;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_005477.2|HPRD:09240;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,hyperpolarization_activated_cyclic_nucleotide_gated_potassium_channel_4;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HCN4;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HCN4;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SSS2;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,hyperpolarization_activated_cyclic_nucleotide_gated_potassium_channel_4;transcript_id=,NM_005477.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=HCN4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=HCN4:NM_005477:exon8:c.A3337G:p.M1113V;cytoBand=15q24.1;genomicSuperDups=.;esp6500siv2_all=0.0106;esp6500siv2_ea=0.0126;esp6500siv2_all=0.0106;esp6500siv2_ea=0.0126;1000g2015aug_all=0.0081869;avsnp147=rs142735148;Kaviar_AF=0.008247;Kaviar_AC=1275;Kaviar_AN=154602;ExAC_ALL=0.0248;ExAC_AFR=0.0115;ExAC_AMR=0.0322;ExAC_EAS=0;ExAC_FIN=0.0110;ExAC_NFE=0.03;ExAC_OTH=0.0270;ExAC_SAS=0.0278;CLNALLELEID=141246;CLNDN=Brugada_syndrome_8|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C2751083,OMIM:613123|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=-1.1;MutationAssessor_pred=N;FATHMM_score=-4.08;FATHMM_pred=D;PROVEAN_score=-0.02;PROVEAN_pred=N;VEST3_score=0.038;CADD_raw=-3.599;CADD_phred=0.001;DANN_score=0.364;fathmm-MKL_coding_score=0.005;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.310;MetaSVM_pred=T;MetaLR_score=0.417;MetaLR_pred=T;integrated_fitCons_score=0.646;integrated_confidence_value=0;GERP++_RS=-5.11;phyloP7way_vertebrate=-0.594;phyloP20way_mammalian=-0.729;phastCons7way_vertebrate=0.989;phastCons20way_mammalian=0.762;SiPhy_29way_logOdds=10.555;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM1111868#"Bradycardia_postpartum";gnomAD_exome_ALL=0.0118;gnomAD_exome_AFR=0.0082;gnomAD_exome_AMR=0.0081;gnomAD_exome_ASJ=0.0158;gnomAD_exome_EAS=8.296e-05;gnomAD_exome_FIN=0.0022;gnomAD_exome_NFE=0.0145;gnomAD_exome_OTH=0.0129;gnomAD_exome_SAS=0.0212;gnomAD_genome_ALL=0.0085;gnomAD_genome_AFR=0.0063;gnomAD_genome_AMR=0.0084;gnomAD_genome_ASJ=0.0232;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0026;gnomAD_genome_NFE=0.0120;gnomAD_genome_OTH=0.0051;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . 1:231:0,103 . . . . . . 1:204:0,94 . . . . . . . 1:140:0,79 . . . 15 73615786 137542;rs148398509 G C 200.00 . #_unique_end_positions=,76;#_unique_start_positions=,71;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0008;AF_ESP_clinvar_20171029_hg19=,0.0098;AF_EXAC_clinvar_20171029_hg19=,0.00877;AF_TGP_clinvar_20171029_hg19=,0.0034;ALLELEID_clinvar_20171029_hg19=,141245;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0058;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_005468.1:p.Pro883Arg;Amino_acid_change_in_longest_transcript=,NP_005468.1:p.Pro883Arg;BaseQRankSum=,-0.44;CAF_dbsnp_common_v150_hg19_refseq=,0.9966|0.003395;CLNDISDB_clinvar_20171029_hg19=,MedGen:C2751083|OMIM:613123|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Brugada_syndrome_8|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000015.9:g.73615786G>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_005477.2:c.2648C>G;Coding_region_change_in_longest_transcript=,NM_005477.2:c.2648C>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0099;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,126;GENEINFO_dbsnp_common_v150_hg19_refseq=,HCN4:10021;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:10021;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:10021;Genotype=,C/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:16882;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:16882;Homo_sapiens_refseq_GRCh37.p13_Genes=,HCN4;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_005477.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene30349;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna43411;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:605206;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:605206;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene30349;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,73615786;RS_dbsnp_common_v150_hg19_refseq=,148398509;Read_count=,171;Read_coverage=,265;Read_direction_test_probability=,0.9907698045966895;Read_position_test_probability=,0.6870252686138736;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_005477.2;Reverse_read_coverage=,139;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0020;SF=16;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.993544|0.00645649;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050068000a05040036100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.507;db_xref=,GeneID:10021|HGNC:HGNC:16882|MIM:605206;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:09240;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_005477.2|HPRD:09240;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,hyperpolarization_activated_cyclic_nucleotide_gated_potassium_channel_4;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HCN4;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HCN4;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SSS2;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,hyperpolarization_activated_cyclic_nucleotide_gated_potassium_channel_4;transcript_id=,NM_005477.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=HCN4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=HCN4:NM_005477:exon8:c.C2648G:p.P883R;cytoBand=15q24.1;genomicSuperDups=.;esp6500siv2_all=0.0098;esp6500siv2_ea=0.0132;esp6500siv2_all=0.0098;esp6500siv2_ea=0.0132;1000g2015aug_all=0.00339457;avsnp147=rs148398509;Kaviar_AF=0.0077554;Kaviar_AC=1199;Kaviar_AN=154602;ExAC_ALL=0.0088;ExAC_AFR=0.0036;ExAC_AMR=0.0110;ExAC_EAS=0;ExAC_FIN=0.0079;ExAC_NFE=0.0118;ExAC_OTH=0.0202;ExAC_SAS=0.0028;CLNALLELEID=141245;CLNDN=Left_ventricular_noncompaction|Sick_sinus_syndrome_2,_autosomal_dominant|Brugada_syndrome_8|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0030682,MedGen:C1960469,Orphanet:ORPHA54260,SNOMED_CT:427608000|MedGen:C1834144,OMIM:163800|MedGen:C2751083,OMIM:613123|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.007;SIFT_pred=D;Polyphen2_HDIV_score=0.063;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.011;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0.69;MutationAssessor_pred=N;FATHMM_score=-1.1;FATHMM_pred=T;PROVEAN_score=-0.76;PROVEAN_pred=N;VEST3_score=0.096;CADD_raw=0.186;CADD_phred=4.529;DANN_score=0.825;fathmm-MKL_coding_score=0.381;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.973;MetaSVM_pred=T;MetaLR_score=0.174;MetaLR_pred=T;integrated_fitCons_score=0.696;integrated_confidence_value=0;GERP++_RS=2.6;phyloP7way_vertebrate=0.830;phyloP20way_mammalian=0.751;phastCons7way_vertebrate=0.934;phastCons20way_mammalian=0.905;SiPhy_29way_logOdds=8.988;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM148483#"Sinus_bradycardia_&_myocardial_noncompaction";gnomAD_exome_ALL=0.0077;gnomAD_exome_AFR=0.0023;gnomAD_exome_AMR=0.0072;gnomAD_exome_ASJ=0.0034;gnomAD_exome_EAS=5.884e-05;gnomAD_exome_FIN=0.0081;gnomAD_exome_NFE=0.0115;gnomAD_exome_OTH=0.0120;gnomAD_exome_SAS=0.0027;gnomAD_genome_ALL=0.0078;gnomAD_genome_AFR=0.0028;gnomAD_genome_AMR=0.0072;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0046;gnomAD_genome_NFE=0.0126;gnomAD_genome_OTH=0.0082;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . 1:235:0,146 . . . . . . . . . . . . . . . . . . . . . . . . . 15 73615878 95284;rs117819825 C T 200.00 . #_unique_end_positions=,43;#_unique_start_positions=,40;AC=6;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0023;AF_ESP_clinvar_20171029_hg19=,0.0362;AF_EXAC_clinvar_20171029_hg19=,0.04574;AF_TGP_clinvar_20171029_hg19=,0.0276;ALLELEID_clinvar_20171029_hg19=,101183;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0821;AN=6;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.98;CAF_dbsnp_common_v150_hg19_refseq=,0.9724|0.02756;CLNDISDB_clinvar_20171029_hg19=,MedGen:C2751083|OMIM:613123|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Brugada_syndrome_8|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000015.9:g.73615878C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_005477.2:c.2556G>A;Coding_region_change_in_longest_transcript=,NM_005477.2:c.2556G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0348;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,124;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,HCN4:10021;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:10021;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:10021;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:16882;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:16882;Homo_sapiens_refseq_GRCh37.p13_Genes=,HCN4;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_005477.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene30349;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna43411;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:605206;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:605206;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene30349;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,73615878;RS_dbsnp_common_v150_hg19_refseq=,117819825;Read_count=,90;Read_coverage=,199;Read_direction_test_probability=,0.8191583480651129;Read_position_test_probability=,0.824098040963392;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_005477.2;Reverse_read_coverage=,75;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0440;SF=3,13,17,21,26;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.967855|0.0321451;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128000305150436000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.562;db_xref=,GeneID:10021|HGNC:HGNC:16882|MIM:605206;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:09240;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_005477.2|HPRD:09240;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,hyperpolarization_activated_cyclic_nucleotide_gated_potassium_channel_4;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HCN4;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HCN4;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SSS2;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,hyperpolarization_activated_cyclic_nucleotide_gated_potassium_channel_4;transcript_id=,NM_005477.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=HCN4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=HCN4:NM_005477:exon8:c.G2556A:p.P852P;cytoBand=15q24.1;genomicSuperDups=.;esp6500siv2_all=0.0362;esp6500siv2_ea=0.0488;esp6500siv2_all=0.0362;esp6500siv2_ea=0.0488;1000g2015aug_all=0.0275559;avsnp147=rs117819825;Kaviar_AF=0.0447148;Kaviar_AC=6913;Kaviar_AN=154602;ExAC_ALL=0.0457;ExAC_AFR=0.0123;ExAC_AMR=0.1086;ExAC_EAS=0;ExAC_FIN=0.0215;ExAC_NFE=0.0484;ExAC_OTH=0.0456;ExAC_SAS=0.0442;CLNALLELEID=101183;CLNDN=Brugada_syndrome_8|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C2751083,OMIM:613123|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0488;gnomAD_exome_AFR=0.0105;gnomAD_exome_AMR=0.1076;gnomAD_exome_ASJ=0.0213;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0.0224;gnomAD_exome_NFE=0.0497;gnomAD_exome_OTH=0.0589;gnomAD_exome_SAS=0.0455;gnomAD_genome_ALL=0.0336;gnomAD_genome_AFR=0.0123;gnomAD_genome_AMR=0.0907;gnomAD_genome_ASJ=0.0331;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0241;gnomAD_genome_NFE=0.0476;gnomAD_genome_OTH=0.0481;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . 1:188:0,86 . . . . . . . . . 1:235:0,95 . . . 1/1:157:0,157 . . . 1:221:0,92 . . . . 1:198:0,78 . . . . . . . . . . . . . . . 15 73621946 137539;rs12909882 G A 200.00 . #_unique_end_positions=,28;#_unique_start_positions=,32;AC=2;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0446;AF_ESP_clinvar_20171029_hg19=,0.0740;AF_EXAC_clinvar_20171029_hg19=,0.08565;AF_TGP_clinvar_20171029_hg19=,0.0531;ALLELEID_clinvar_20171029_hg19=,141242;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0576;AN=2;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.38;CAF_dbsnp_common_v150_hg19_refseq=,0.9469|0.05312;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000015.9:g.73621946G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_005477.2:c.1558C>T;Coding_region_change_in_longest_transcript=,NM_005477.2:c.1558C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0030;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0815;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,88;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,HCN4:10021;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:10021;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:10021;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:16882;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:16882;Homo_sapiens_refseq_GRCh37.p13_Genes=,HCN4;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_005477.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene30349;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna43411;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:605206;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:605206;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene30349;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,73621946;RS_dbsnp_common_v150_hg19_refseq=,12909882;Read_count=,50;Read_coverage=,126;Read_direction_test_probability=,0.8617479177867439;Read_position_test_probability=,0.7463515887528848;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_005477.2;Reverse_read_coverage=,38;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0838;SF=20,32;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.933409|0.0665911;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05016800030515053e100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:10021|HGNC:HGNC:16882|MIM:605206;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:09240;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_005477.2|HPRD:09240;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,hyperpolarization_activated_cyclic_nucleotide_gated_potassium_channel_4;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HCN4;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HCN4;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SSS2;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,hyperpolarization_activated_cyclic_nucleotide_gated_potassium_channel_4;transcript_id=,NM_005477.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=HCN4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=HCN4:NM_005477:exon4:c.C1558T:p.L520L;cytoBand=15q24.1;genomicSuperDups=.;esp6500siv2_all=0.0740;esp6500siv2_ea=0.0910;esp6500siv2_all=0.0740;esp6500siv2_ea=0.0910;1000g2015aug_all=0.053115;avsnp147=rs12909882;Kaviar_AF=0.0839058;Kaviar_AC=12972;Kaviar_AN=154602;ExAC_ALL=0.0856;ExAC_AFR=0.0433;ExAC_AMR=0.0850;ExAC_EAS=0.0015;ExAC_FIN=0.1328;ExAC_NFE=0.0937;ExAC_OTH=0.0949;ExAC_SAS=0.1048;CLNALLELEID=141242;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.2149;dpsi_zscore=0.751;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0877;gnomAD_exome_AFR=0.0429;gnomAD_exome_AMR=0.0842;gnomAD_exome_ASJ=0.0744;gnomAD_exome_EAS=0.0023;gnomAD_exome_FIN=0.1320;gnomAD_exome_NFE=0.0957;gnomAD_exome_OTH=0.0766;gnomAD_exome_SAS=0.1067;gnomAD_genome_ALL=0.0857;gnomAD_genome_AFR=0.0451;gnomAD_genome_AMR=0.0656;gnomAD_genome_ASJ=0.0927;gnomAD_genome_EAS=0.0018;gnomAD_genome_FIN=0.1347;gnomAD_genome_NFE=0.1067;gnomAD_genome_OTH=0.1079;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . 1:121:0,49 . . . . . . . . . . . 1:145:0,75 . . . . . . . . . 15 73660442 . G A 116.03 . #_unique_end_positions=,13;#_unique_start_positions=,12;AC=1;AN=1;Amino_acid_change=,NP_005468.1:p.Ser57Phe;Amino_acid_change_in_longest_transcript=,NP_005468.1:p.Ser57Phe;BaseQRankSum=,0.0;Coding_region_change=,NM_005477.2:c.170C>T;Coding_region_change_in_longest_transcript=,NM_005477.2:c.170C>T;Forward_read_coverage=,30;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:10021;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:10021;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:16882;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:16882;Homo_sapiens_refseq_GRCh37.p13_Genes=,HCN4;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_005477.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene30349;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna43411;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:605206;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:605206;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene30349;QUAL=,116.0325737056462;Read_count=,24;Read_coverage=,46;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9874675188032427;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_005477.2;Reverse_read_coverage=,16;SF=40;conservation_score=,0.815;db_xref=,GeneID:10021|HGNC:HGNC:16882|MIM:605206;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:09240;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_005477.2|HPRD:09240;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,hyperpolarization_activated_cyclic_nucleotide_gated_potassium_channel_4;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HCN4;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HCN4;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SSS2;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,hyperpolarization_activated_cyclic_nucleotide_gated_potassium_channel_4;transcript_id=,NM_005477.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=HCN4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=HCN4:NM_005477:exon1:c.C170T:p.S57F;cytoBand=15q24.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=0.012;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.004;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0.975;MutationAssessor_pred=L;FATHMM_score=-4.56;FATHMM_pred=D;PROVEAN_score=-0.98;PROVEAN_pred=N;VEST3_score=0.165;CADD_raw=2.050;CADD_phred=16.53;DANN_score=0.980;fathmm-MKL_coding_score=0.423;fathmm-MKL_coding_pred=N;MetaSVM_score=0.299;MetaSVM_pred=D;MetaLR_score=0.803;MetaLR_pred=D;integrated_fitCons_score=0.658;integrated_confidence_value=0;GERP++_RS=1.92;phyloP7way_vertebrate=0.897;phyloP20way_mammalian=0.774;phastCons7way_vertebrate=0.942;phastCons20way_mammalian=0.891;SiPhy_29way_logOdds=5.412;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=1.061e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=3.015e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=7 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:32:0,17 . 15 73660505 137537;rs143090627 C T 124.25 . #_unique_end_positions=,16;#_unique_start_positions=,16;AC=9;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0068;AF_ESP_clinvar_20171029_hg19=,0.0370;AF_EXAC_clinvar_20171029_hg19=,0.06131;AF_TGP_clinvar_20171029_hg19=,0.0250;ALLELEID_clinvar_20171029_hg19=,141240;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0447;AN=9;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_005468.1:p.Gly36Glu;Amino_acid_change_in_longest_transcript=,NP_005468.1:p.Gly36Glu;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.975|0.02496;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000015.9:g.73660505C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_005477.2:c.107G>A;Coding_region_change_in_longest_transcript=,NM_005477.2:c.107G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0696;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,40;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,HCN4:10021;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:10021;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:10021;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:16882;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:16882;Homo_sapiens_refseq_GRCh37.p13_Genes=,HCN4;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_005477.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene30349;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna43411;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:605206;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:605206;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene30349;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,73660505;RS_dbsnp_common_v150_hg19_refseq=,143090627;Read_count=,39;Read_coverage=,75;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.8249194013893278;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_005477.2;Reverse_read_coverage=,35;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0153;SF=0,2,4,9,31,32,34,35,39;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.95999|0.0400096;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050168000a05150036100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.512;db_xref=,GeneID:10021|HGNC:HGNC:16882|MIM:605206;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:09240;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_005477.2|HPRD:09240;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,hyperpolarization_activated_cyclic_nucleotide_gated_potassium_channel_4;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HCN4;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HCN4;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SSS2;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,hyperpolarization_activated_cyclic_nucleotide_gated_potassium_channel_4;transcript_id=,NM_005477.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=HCN4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=HCN4:NM_005477:exon1:c.G107A:p.G36E;cytoBand=15q24.1;genomicSuperDups=.;esp6500siv2_all=0.0369;esp6500siv2_ea=0.0508;esp6500siv2_all=0.0369;esp6500siv2_ea=0.0508;1000g2015aug_all=0.0249601;avsnp147=rs143090627;Kaviar_AF=0.0002717;Kaviar_AC=42;Kaviar_AN=154602;ExAC_ALL=0.0613;ExAC_AFR=0.0263;ExAC_AMR=0.1029;ExAC_EAS=0;ExAC_FIN=0.0833;ExAC_NFE=0.1222;ExAC_OTH=0.0580;ExAC_SAS=0.0263;CLNALLELEID=141240;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.002;SIFT_pred=D;Polyphen2_HDIV_score=0.004;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0.345;MutationAssessor_pred=N;FATHMM_score=-4.68;FATHMM_pred=D;PROVEAN_score=-0.67;PROVEAN_pred=N;VEST3_score=0.124;CADD_raw=2.191;CADD_phred=17.45;DANN_score=0.976;fathmm-MKL_coding_score=0.026;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.316;MetaSVM_pred=T;MetaLR_score=0.224;MetaLR_pred=T;integrated_fitCons_score=0.598;integrated_confidence_value=0;GERP++_RS=1.96;phyloP7way_vertebrate=0.853;phyloP20way_mammalian=0.695;phastCons7way_vertebrate=0.553;phastCons20way_mammalian=0.954;SiPhy_29way_logOdds=6.714;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0465;gnomAD_exome_AFR=0.0118;gnomAD_exome_AMR=0.0455;gnomAD_exome_ASJ=0.0947;gnomAD_exome_EAS=0.0005;gnomAD_exome_FIN=0.0287;gnomAD_exome_NFE=0.0637;gnomAD_exome_OTH=0.0744;gnomAD_exome_SAS=0.0238;gnomAD_genome_ALL=0.0383;gnomAD_genome_AFR=0.0116;gnomAD_genome_AMR=0.0442;gnomAD_genome_ASJ=0.0912;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0255;gnomAD_genome_NFE=0.0594;gnomAD_genome_OTH=0.0412;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:47:0,24 . 1:21:0,13 . 1:31:0,16 . . . . 1:43:0,18 . . . . . . . . . . . . . . . . . . . . . 1:14:0,4 1:49:0,34 . 1:49:0,23 1:61:0,39 . . . 1:51:0,27 . . 15 73660564 . C T 139.38 . #_unique_end_positions=,14;#_unique_start_positions=,16;AC=1;AN=1;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;Coding_region_change=,NM_005477.2:c.48G>A;Coding_region_change_in_longest_transcript=,NM_005477.2:c.48G>A;Forward_read_coverage=,10;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:10021;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:10021;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:16882;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:16882;Homo_sapiens_refseq_GRCh37.p13_Genes=,HCN4;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_005477.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene30349;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna43411;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:605206;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:605206;Non-synonymous=,No;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene30349;QUAL=,139.3755643089222;Read_count=,23;Read_coverage=,54;Read_direction_test_probability=,0.9313392524973612;Read_position_test_probability=,0.6711555198846204;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_005477.2;Reverse_read_coverage=,44;SF=29;conservation_score=,1.0;db_xref=,GeneID:10021|HGNC:HGNC:16882|MIM:605206;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:09240;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_005477.2|HPRD:09240;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,hyperpolarization_activated_cyclic_nucleotide_gated_potassium_channel_4;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HCN4;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HCN4;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SSS2;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,hyperpolarization_activated_cyclic_nucleotide_gated_potassium_channel_4;transcript_id=,NM_005477.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=HCN4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=HCN4:NM_005477:exon1:c.G48A:p.P16P;cytoBand=15q24.1;genomicSuperDups=.;esp6500siv2_all=8.7e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=8.7e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=.;avsnp147=rs376849038;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:46:0,20 . . . . . . . . . . . . 17 8192922 138888;rs869773 C T 200.00 . #_unique_end_positions=,70;#_unique_start_positions=,66;AC=5;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0915;AF_ESP_clinvar_20171029_hg19=,0.0618;AF_EXAC_clinvar_20171029_hg19=,0.09773;AF_TGP_clinvar_20171029_hg19=,0.1416;ALLELEID_clinvar_20171029_hg19=,142591;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2320;AN=5;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.68;CAF_dbsnp_common_v150_hg19_refseq=,0.8584|0.1416;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000017.10:g.8192922C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_single_submitter;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001177801.1:c.*12C>T|_NM_001177802.1:c.*43C>T|_NM_001320870.1:c.*901G>A|_NM_001320871.1:c.*12G>A|_NM_001320872.1:c.*12G>A|_NM_001320877.1:c.*901G>A|_NM_001330127.1:c.351+190C>T|_NM_016492.4:c.437+16C>T|_NM_201520.2:c.*12G>A;Coding_region_change_in_longest_transcript=,NM_201520.2:c.*12G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2887;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0497;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,112;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,RANGRF:29098|SLC25A35:399512;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:399512|GeneID:29098;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:399512|GeneID:29098;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:31921|HGNC:HGNC:17679;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:31921|HGNC:HGNC:17679;Homo_sapiens_refseq_GRCh37.p13_Genes=,SLC25A35|RANGRF;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_201520.2|NM_001320871.1|NM_001177802.1|NM_001177801.1|NM_001320872.1|NR_135484.1|NR_135483.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene32626|gene32627;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna47337|rna47336|rna47344|rna47345|rna47338|rna47339|rna47340;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001624|3_prime_UTR_variant|SO:0001627|intron_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:610818|MIM:607954;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:610818|MIM:607954;Non-synonymous=,-;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene32626|gene32627;QUAL=,200.0;R3_dbsnp_common_v150_hg19_refseq=,R3;RSPOS_dbsnp_common_v150_hg19_refseq=,8192922;RS_dbsnp_common_v150_hg19_refseq=,869773;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,121;Read_coverage=,240;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9780798137410128;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_201520.2|NM_001320871.1|NM_001177802.1|NM_001177801.1|NM_001320872.1|NR_135484.1|NR_135483.1;Reverse_read_coverage=,128;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0879;SF=2,18,24,36,40;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.922419|0.0775809;U3_dbsnp_common_v150_hg19_refseq=,U3;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x0501608c0005150537100100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0423729;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.295455;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.397727;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.101695;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.001;db_xref=,GeneID:399512|HGNC:HGNC:31921|MIM:610818|GeneID:29098|HGNC:HGNC:17679|MIM:607954;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_201520.2|Genbank:NM_001320871.1|Genbank:NM_001177802.1|Genbank:NM_001177801.1|Genbank:NM_001320872.1|Genbank:NR_135484.1|Genbank:NR_135483.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,solute_carrier_family_25_member_35|RAN_guanine_nucleotide_release_factor;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA|misc_RNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SLC25A35|RANGRF;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SLC25A35|RANGRF;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HSPC165|HSPC236|MOG1|RANGNRF;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,solute_carrier_family_25_member_35|_transcript_variant_2|solute_carrier_family_25_member_35|_transcript_variant_3|RAN_guanine_nucleotide_release_factor|_transcript_variant_3|RAN_guanine_nucleotide_release_factor|_transcript_variant_2|solute_carrier_family_25_member_35|_transcript_variant_4|solute_carrier_family_25_member_35|_transcript_variant_5|solute_carrier_family_25_member_35|_transcript_variant_6;transcript_id=,NM_201520.2|NM_001320871.1|NM_001177802.1|NM_001177801.1|NM_001320872.1|NR_135484.1|NR_135483.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA|transcript;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR3;Gene.refGene=RANGRF,SLC25A35;GeneDetail.refGene=NM_001177801:c.*12C>T,NM_001177802:c.*43C>T\x3bNM_201520:c.*12G>A;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=17p13.1;genomicSuperDups=.;esp6500siv2_all=0.0618;esp6500siv2_ea=0.0433;esp6500siv2_all=0.0618;esp6500siv2_ea=0.0433;1000g2015aug_all=0.141573;avsnp147=rs869773;Kaviar_AF=0.0920816;Kaviar_AC=14236;Kaviar_AN=154602;ExAC_ALL=0.0977;ExAC_AFR=0.0997;ExAC_AMR=0.3252;ExAC_EAS=0.2653;ExAC_FIN=0.0918;ExAC_NFE=0.0422;ExAC_OTH=0.1020;ExAC_SAS=0.0742;CLNALLELEID=142591;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1479;dpsi_zscore=0.611;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1071;gnomAD_exome_AFR=0.0967;gnomAD_exome_AMR=0.3096;gnomAD_exome_ASJ=0.0775;gnomAD_exome_EAS=0.2601;gnomAD_exome_FIN=0.0931;gnomAD_exome_NFE=0.0388;gnomAD_exome_OTH=0.1021;gnomAD_exome_SAS=0.0725;gnomAD_genome_ALL=0.0816;gnomAD_genome_AFR=0.0971;gnomAD_genome_AMR=0.2572;gnomAD_genome_ASJ=0.0861;gnomAD_genome_EAS=0.2534;gnomAD_genome_FIN=0.0916;gnomAD_genome_NFE=0.0423;gnomAD_genome_OTH=0.0745;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . 1:227:0,114 . . . . . . . . . . . . . . . 1:203:0,104 . . . . . 1:240:0,127 . . . . . . . . . . . 1:190:0,87 . . . 1:242:0,108 . 17 8192922 138888;rs869773 C T 200.00 . #_unique_end_positions=,70;#_unique_start_positions=,66;AC=5;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0915;AF_ESP_clinvar_20171029_hg19=,0.0618;AF_EXAC_clinvar_20171029_hg19=,0.09773;AF_TGP_clinvar_20171029_hg19=,0.1416;ALLELEID_clinvar_20171029_hg19=,142591;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2320;AN=5;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.68;CAF_dbsnp_common_v150_hg19_refseq=,0.8584|0.1416;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000017.10:g.8192922C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_single_submitter;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001177801.1:c.*12C>T|_NM_001177802.1:c.*43C>T|_NM_001320870.1:c.*901G>A|_NM_001320871.1:c.*12G>A|_NM_001320872.1:c.*12G>A|_NM_001320877.1:c.*901G>A|_NM_001330127.1:c.351+190C>T|_NM_016492.4:c.437+16C>T|_NM_201520.2:c.*12G>A;Coding_region_change_in_longest_transcript=,NM_201520.2:c.*12G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2887;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0497;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,112;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,RANGRF:29098|SLC25A35:399512;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:399512|GeneID:29098;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:399512|GeneID:29098;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:31921|HGNC:HGNC:17679;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:31921|HGNC:HGNC:17679;Homo_sapiens_refseq_GRCh37.p13_Genes=,SLC25A35|RANGRF;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_201520.2|NM_001320871.1|NM_001177802.1|NM_001177801.1|NM_001320872.1|NR_135484.1|NR_135483.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene32626|gene32627;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna47337|rna47336|rna47344|rna47345|rna47338|rna47339|rna47340;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001624|3_prime_UTR_variant|SO:0001627|intron_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:610818|MIM:607954;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:610818|MIM:607954;Non-synonymous=,-;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene32626|gene32627;QUAL=,200.0;R3_dbsnp_common_v150_hg19_refseq=,R3;RSPOS_dbsnp_common_v150_hg19_refseq=,8192922;RS_dbsnp_common_v150_hg19_refseq=,869773;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,121;Read_coverage=,240;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9780798137410128;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_201520.2|NM_001320871.1|NM_001177802.1|NM_001177801.1|NM_001320872.1|NR_135484.1|NR_135483.1;Reverse_read_coverage=,128;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0879;SF=2,18,24,36,40;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.922419|0.0775809;U3_dbsnp_common_v150_hg19_refseq=,U3;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x0501608c0005150537100100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0423729;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.295455;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.397727;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.101695;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.001;db_xref=,GeneID:399512|HGNC:HGNC:31921|MIM:610818|GeneID:29098|HGNC:HGNC:17679|MIM:607954;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_201520.2|Genbank:NM_001320871.1|Genbank:NM_001177802.1|Genbank:NM_001177801.1|Genbank:NM_001320872.1|Genbank:NR_135484.1|Genbank:NR_135483.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,solute_carrier_family_25_member_35|RAN_guanine_nucleotide_release_factor;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA|misc_RNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SLC25A35|RANGRF;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SLC25A35|RANGRF;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HSPC165|HSPC236|MOG1|RANGNRF;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,solute_carrier_family_25_member_35|_transcript_variant_2|solute_carrier_family_25_member_35|_transcript_variant_3|RAN_guanine_nucleotide_release_factor|_transcript_variant_3|RAN_guanine_nucleotide_release_factor|_transcript_variant_2|solute_carrier_family_25_member_35|_transcript_variant_4|solute_carrier_family_25_member_35|_transcript_variant_5|solute_carrier_family_25_member_35|_transcript_variant_6;transcript_id=,NM_201520.2|NM_001320871.1|NM_001177802.1|NM_001177801.1|NM_001320872.1|NR_135484.1|NR_135483.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA|transcript;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR3;Gene.refGene=RANGRF,SLC25A35;GeneDetail.refGene=NM_001177801:c.*12C>T,NM_001177802:c.*43C>T\x3bNM_201520:c.*12G>A;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=17p13.1;genomicSuperDups=.;esp6500siv2_all=0.0618;esp6500siv2_ea=0.0433;esp6500siv2_all=0.0618;esp6500siv2_ea=0.0433;1000g2015aug_all=0.141573;avsnp147=rs869773;Kaviar_AF=0.0920816;Kaviar_AC=14236;Kaviar_AN=154602;ExAC_ALL=0.0977;ExAC_AFR=0.0997;ExAC_AMR=0.3252;ExAC_EAS=0.2653;ExAC_FIN=0.0918;ExAC_NFE=0.0422;ExAC_OTH=0.1020;ExAC_SAS=0.0742;CLNALLELEID=142591;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1479;dpsi_zscore=0.611;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1071;gnomAD_exome_AFR=0.0967;gnomAD_exome_AMR=0.3096;gnomAD_exome_ASJ=0.0775;gnomAD_exome_EAS=0.2601;gnomAD_exome_FIN=0.0931;gnomAD_exome_NFE=0.0388;gnomAD_exome_OTH=0.1021;gnomAD_exome_SAS=0.0725;gnomAD_genome_ALL=0.0816;gnomAD_genome_AFR=0.0971;gnomAD_genome_AMR=0.2572;gnomAD_genome_ASJ=0.0861;gnomAD_genome_EAS=0.2534;gnomAD_genome_FIN=0.0916;gnomAD_genome_NFE=0.0423;gnomAD_genome_OTH=0.0745;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . 1:227:0,114 . . . . . . . . . . . . . . . 1:203:0,104 . . . . . 1:240:0,127 . . . . . . . . . . . 1:190:0,87 . . . 1:242:0,108 . 17 8192970 rs111417202 G A 200.00 . #_unique_end_positions=,69;#_unique_start_positions=,61;AC=2;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0015;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0216;AN=2;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.09;CAF_dbsnp_common_v150_hg19_refseq=,0.9922|0.007788;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001177801.1:c.*60G>A|_NM_001177802.1:c.*91G>A|_NM_001320870.1:c.*853C>T|_NM_001320871.1:c.861-9C>T|_NM_001320872.1:c.861-9C>T|_NM_001320877.1:c.*853C>T|_NM_001330127.1:c.352-161G>A|_NM_016492.4:c.437+64G>A|_NM_201520.2:c.861-9C>T;Coding_region_change_in_longest_transcript=,NM_201520.2:c.861-9C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0189;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,130;GENEINFO_dbsnp_common_v150_hg19_refseq=,RANGRF:29098|SLC25A35:399512;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:399512|GeneID:29098;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:29098;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:31921|HGNC:HGNC:17679;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:17679;Homo_sapiens_refseq_GRCh37.p13_Genes=,SLC25A35|RANGRF;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001177802.1|NM_001177801.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene32626|gene32627;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna47344|rna47345;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:610818|MIM:607954;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:607954;Non-synonymous=,-;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene32627;QUAL=,200.0;R3_dbsnp_common_v150_hg19_refseq=,R3;RSPOS_dbsnp_common_v150_hg19_refseq=,8192970;RS_dbsnp_common_v150_hg19_refseq=,111417202;Read_count=,156;Read_coverage=,325;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9922132567252221;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001177802.1|NM_001177801.1;Reverse_read_coverage=,195;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0031;SF=23,38;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.990178|0.0098221;U3_dbsnp_common_v150_hg19_refseq=,U3;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x0501008c0005040436000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.002;db_xref=,GeneID:399512|HGNC:HGNC:31921|MIM:610818|GeneID:29098|HGNC:HGNC:17679|MIM:607954;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001177802.1|Genbank:NM_001177801.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,solute_carrier_family_25_member_35|RAN_guanine_nucleotide_release_factor;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SLC25A35|RANGRF;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,RANGRF;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HSPC165|HSPC236|MOG1|RANGNRF;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,RAN_guanine_nucleotide_release_factor|_transcript_variant_3|RAN_guanine_nucleotide_release_factor|_transcript_variant_2;transcript_id=,NM_001177802.1|NM_001177801.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR3;Gene.refGene=RANGRF;GeneDetail.refGene=NM_001177801:c.*60G>A,NM_001177802:c.*91G>A;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=17p13.1;genomicSuperDups=.;esp6500siv2_all=0.0143;esp6500siv2_ea=0.0197;esp6500siv2_all=0.0143;esp6500siv2_ea=0.0197;1000g2015aug_all=0.00778754;avsnp147=rs111417202;Kaviar_AF=0.0131952;Kaviar_AC=2040;Kaviar_AN=154602;ExAC_ALL=0.0134;ExAC_AFR=0.0040;ExAC_AMR=0.0081;ExAC_EAS=0;ExAC_FIN=0.0218;ExAC_NFE=0.0187;ExAC_OTH=0.0181;ExAC_SAS=0.0039;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.2699;dpsi_zscore=0.846;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0127;gnomAD_exome_AFR=0.0028;gnomAD_exome_AMR=0.0085;gnomAD_exome_ASJ=0.0117;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0214;gnomAD_exome_NFE=0.0181;gnomAD_exome_OTH=0.0138;gnomAD_exome_SAS=0.0037;gnomAD_genome_ALL=0.0136;gnomAD_genome_AFR=0.0028;gnomAD_genome_AMR=0.0107;gnomAD_genome_ASJ=0.0199;gnomAD_genome_EAS=0.0012;gnomAD_genome_FIN=0.0220;gnomAD_genome_NFE=0.0188;gnomAD_genome_OTH=0.0224;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . 1:292:0,143 . . . . . . . . . . . . . . 1:181:0,82 . . . 17 8193203 138889;rs35420920 G A 200.00 . #_unique_end_positions=,55;#_unique_start_positions=,53;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0018;AF_EXAC_clinvar_20171029_hg19=,0.00241;AF_TGP_clinvar_20171029_hg19=,0.0012;ALLELEID_clinvar_20171029_hg19=,142592;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0014;AN=1;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.45;CLNDISDB_clinvar_20171029_hg19=,MedGen:C0003811|OMIM:115000|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Cardiac_arrhythmia|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000017.10:g.8193203G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;Coding_region_change=,NM_001177801.1:c.*293G>A|_NM_001177802.1:c.*324G>A|_NM_001320870.1:c.*620C>T|_NM_001320871.1:c.829C>T|_NM_001320872.1:c.829C>T|_NM_001320877.1:c.*620C>T|_NM_001330127.1:c.*67G>A|_NM_016492.4:c.510G>A|_NM_201520.2:c.829C>T;Coding_region_change_in_longest_transcript=,NM_201520.2:c.829C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0040;Exact_match=,clinvar_20171029_hg19|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,82;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:399512|GeneID:29098;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:399512|GeneID:29098;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:31921|HGNC:HGNC:17679;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:31921|HGNC:HGNC:17679;Homo_sapiens_refseq_GRCh37.p13_Genes=,SLC25A35|RANGRF;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_201520.2|NM_001320871.1|NM_001330127.1|NM_001177802.1|NM_001177801.1|NM_016492.4|NM_001320872.1|NR_135484.1|NR_135483.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene32626|gene32627;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna47337|rna47336|rna47343|rna47344|rna47345|rna47346|rna47338|rna47339|rna47340;MC_clinvar_20171029_hg19=,SO:0001624|3_prime_UTR_variant|SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:610818|MIM:607954;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:610818|MIM:607954;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene32626|gene32627;QUAL=,200.0;Read_count=,91;Read_coverage=,204;Read_direction_test_probability=,0.9931008223141768;Read_position_test_probability=,0.6807691752967047;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_201520.2|NM_001320871.1|NM_001330127.1|NM_001177802.1|NM_001177801.1|NM_016492.4|NM_001320872.1|NR_135484.1|NR_135483.1;Reverse_read_coverage=,122;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;SF=7;conservation_score=,0.999;db_xref=,GeneID:399512|HGNC:HGNC:31921|MIM:610818|GeneID:29098|HGNC:HGNC:17679|MIM:607954;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_201520.2|Genbank:NM_001320871.1|Genbank:NM_001330127.1|Genbank:NM_001177802.1|Genbank:NM_001177801.1|Genbank:NM_016492.4|Genbank:NM_001320872.1|Genbank:NR_135484.1|Genbank:NR_135483.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,solute_carrier_family_25_member_35|RAN_guanine_nucleotide_release_factor;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA|misc_RNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SLC25A35|RANGRF;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SLC25A35|RANGRF;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HSPC165|HSPC236|MOG1|RANGNRF;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,solute_carrier_family_25_member_35|_transcript_variant_2|solute_carrier_family_25_member_35|_transcript_variant_3|RAN_guanine_nucleotide_release_factor|_transcript_variant_4|RAN_guanine_nucleotide_release_factor|_transcript_variant_3|RAN_guanine_nucleotide_release_factor|_transcript_variant_2|RAN_guanine_nucleotide_release_factor|_transcript_variant_1|solute_carrier_family_25_member_35|_transcript_variant_4|solute_carrier_family_25_member_35|_transcript_variant_5|solute_carrier_family_25_member_35|_transcript_variant_6;transcript_id=,NM_201520.2|NM_001320871.1|NM_001330127.1|NM_001177802.1|NM_001177801.1|NM_016492.4|NM_001320872.1|NR_135484.1|NR_135483.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA|transcript;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=RANGRF,SLC25A35;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=RANGRF:NM_016492:exon5:c.G510A:p.Q170Q,SLC25A35:NM_201520:exon5:c.C829T:p.L277L;cytoBand=17p13.1;genomicSuperDups=.;esp6500siv2_all=0.0018;esp6500siv2_ea=0.0023;esp6500siv2_all=0.0018;esp6500siv2_ea=0.0023;1000g2015aug_all=0.00119808;avsnp147=rs35420920;Kaviar_AF=0.0021927;Kaviar_AC=339;Kaviar_AN=154602;ExAC_ALL=0.0024;ExAC_AFR=0.0004;ExAC_AMR=0.0002;ExAC_EAS=0;ExAC_FIN=0.0076;ExAC_NFE=0.0034;ExAC_OTH=0.0033;ExAC_SAS=0.0005;CLNALLELEID=142592;CLNDN=Cardiac_arrhythmia|not_specified;CLNDISDB=MedGen:C0003811,OMIM:115000|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-2.3606;dpsi_zscore=-2.002;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0023;gnomAD_exome_AFR=0.0003;gnomAD_exome_AMR=0.0003;gnomAD_exome_ASJ=0.0020;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0059;gnomAD_exome_NFE=0.0033;gnomAD_exome_OTH=0.0020;gnomAD_exome_SAS=0.0005;gnomAD_genome_ALL=0.0046;gnomAD_genome_AFR=0.0002;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0049;gnomAD_genome_NFE=0.0078;gnomAD_genome_OTH=0.0041;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:DP:CLCAD2 . . . . . . . 1:190:0,84 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 17 37822311 44709;rs1053651 A C 192.93 . #_unique_end_positions=,61;#_unique_start_positions=,55;AC=64;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4191;ALLELEID_clinvar_20171029_hg19=,53876;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5591;AN=64;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.4503|0.5497|.;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy|_Dominant|Limb-Girdle_Muscular_Dystrophy|_Recessive;CLNHGVS_clinvar_20171029_hg19=,NC_000017.10:g.37822311A>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:19559;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001165937.1:c.*3150A>C|_NM_001165938.1:c.*3150A>C|_NM_002686.4:c.-2418A>C|_NM_003673.3:c.453A>C|_NM_006804.3:c.*3150A>C;Coding_region_change_in_longest_transcript=,NM_003673.3:c.453A>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4167;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7217;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,42;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TCAP:8557|PNMT:5409;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:8557;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:8557;Genotype=,C/C;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:11610;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:11610;Homo_sapiens_refseq_GRCh37.p13_Genes=,TCAP;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003673.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene33264;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna48234;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:604488;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:604488;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene33264;QUAL=,200.0;R5_dbsnp_common_v150_hg19_refseq=,R5;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,37822311;RS_dbsnp_common_v150_hg19_refseq=,1053651;Read_count=,128;Read_coverage=,128;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003673.3;Reverse_read_coverage=,86;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6800;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.422826|0.577174|.;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05036802030517053f100100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.457447;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.731818;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.487805;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.364706;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.711765;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.534884;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.534884;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.472222;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.6;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.321678;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.680233;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.373874;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.206;db_xref=,GeneID:8557|HGNC:HGNC:11610|MIM:604488;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:05133;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003673.3|HPRD:05133;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,titin-cap;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TCAP;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TCAP;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1N|CMH25|LGMD2G|T-cap|TELE|telethonin;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,titin-cap;transcript_id=,NM_003673.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TCAP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TCAP:NM_003673:exon2:c.A453C:p.A151A;cytoBand=17q12;genomicSuperDups=.;esp6500siv2_all=0.6183;esp6500siv2_ea=0.7122;esp6500siv2_all=0.6183;esp6500siv2_ea=0.7122;1000g2015aug_all=0.54972;avsnp147=rs1053651;Kaviar_AF=0.66428;Kaviar_AC=102699;Kaviar_AN=154602;ExAC_ALL=0.6706;ExAC_AFR=0.4368;ExAC_AMR=0.6277;ExAC_EAS=0.3983;ExAC_FIN=0.7367;ExAC_NFE=0.7255;ExAC_OTH=0.6914;ExAC_SAS=0.7399;CLNALLELEID=53876;CLNDN=Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.6698;gnomAD_exome_AFR=0.4320;gnomAD_exome_AMR=0.6214;gnomAD_exome_ASJ=0.7057;gnomAD_exome_EAS=0.3877;gnomAD_exome_FIN=0.7411;gnomAD_exome_NFE=0.7262;gnomAD_exome_OTH=0.6823;gnomAD_exome_SAS=0.7424;gnomAD_genome_ALL=0.6111;gnomAD_genome_AFR=0.4325;gnomAD_genome_AMR=0.6089;gnomAD_genome_ASJ=0.6457;gnomAD_genome_EAS=0.3652;gnomAD_genome_FIN=0.7456;gnomAD_genome_NFE=0.7038;gnomAD_genome_OTH=0.7004;Whole_Blood=.;Liver=Liver::0.336601::-0.2513;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 1/1:110:0,110 1/1:248:0,248 1/1:202:0,202 1/1:227:0,227 1:150:0,58 1/1:268:0,268 1/1:209:0,207 1:209:0,104 1:271:0,119 1:255:0,143 1:307:0,135 1:312:0,141 1/1:303:0,303 1:243:0,117 1:374:0,180 1/1:258:0,258 1/1:247:0,246 1/1:296:0,295 1:188:0,92 1/1:198:0,198 1/1:191:0,191 1/1:253:0,253 1:398:0,201 1/1:346:0,346 1:316:0,141 1:209:0,115 1/1:201:0,201 1:321:0,162 1:314:0,146 1/1:337:0,337 1/1:272:0,272 1/1:157:0,157 1:272:0,134 1/1:208:0,208 1:226:0,96 1:268:0,157 1:187:0,85 1/1:168:0,168 1/1:187:0,187 1:257:0,116 1:217:0,108 1/1:175:0,175 17 39912145 21304;rs1126821 T A 191.11 . #_unique_end_positions=,33;#_unique_start_positions=,30;AC=57;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5719;ALLELEID_clinvar_20171029_hg19=,34156;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5231;AN=57;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_002221.1:p.Met697Leu|_NP_068831.1:p.Met697Leu;Amino_acid_change_in_longest_transcript=,NP_002221.1:p.Met697Leu;BaseQRankSum=,-0.41;CAF_dbsnp_common_v150_hg19_refseq=,0.4127|0.5873;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1832600|OMIM:601214|Orphanet:ORPHA34217|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNDN_clinvar_20171029_hg19=,Naxos_disease|not_specified|Cardiovascular_phenotype|Cardiomyopathy|_ARVC;CLNHGVS_clinvar_20171029_hg19=,NC_000017.10:g.39912145T>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:19640|UniProtKB_(protein):P14923#VAR_037804;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_002230.2:c.2089A>T|_NM_021991.2:c.2089A>T;Coding_region_change_in_longest_transcript=,NM_002230.2:c.2089A>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3452;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7435;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,42;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,JUP:3728;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:3728;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:3728;Genotype=,A/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:6207;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:6207;Homo_sapiens_refseq_GRCh37.p13_Genes=,JUP;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_002230.2|NM_021991.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene33388;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna48413|rna48412;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:173325;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:173325;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;OM_dbsnp_common_v150_hg19_refseq=,OM;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene33388;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,39912145;RS_dbsnp_common_v150_hg19_refseq=,1126821;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,57;Read_coverage=,126;Read_direction_test_probability=,0.8245420438663041;Read_position_test_probability=,0.8631994265387228;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_002230.2|NM_021991.2;Reverse_read_coverage=,84;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7423;SF=0,1,2,3,4,6,7,8,9,11,12,13,14,15,16,17,18,19,20,21,22,23,24,26,27,28,29,31,32,33,34,35,36,37,38,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050168000a0517053f110100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.275862;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.704545;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.534884;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.474138;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:3728|HGNC:HGNC:6207|MIM:173325;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_002230.2|Genbank:NM_021991.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,junction_plakoglobin;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,JUP;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,JUP;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARVD12|CTNNG|DP3|DPIII|PDGB|PKGB;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,junction_plakoglobin|_transcript_variant_1|junction_plakoglobin|_transcript_variant_2;transcript_id=,NM_002230.2|NM_021991.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=JUP;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=JUP:NM_002230:exon14:c.A2089T:p.M697L,JUP:NM_021991:exon14:c.A2089T:p.M697L;cytoBand=17q21.2;genomicSuperDups=.;esp6500siv2_all=0.6970;esp6500siv2_ea=0.7391;esp6500siv2_all=0.6970;esp6500siv2_ea=0.7391;1000g2015aug_all=0.58726;avsnp147=rs1126821;Kaviar_AF=0.657482;Kaviar_AC=101648;Kaviar_AN=154602;ExAC_ALL=0.6592;ExAC_AFR=0.6037;ExAC_AMR=0.4306;ExAC_EAS=0.3439;ExAC_FIN=0.6698;ExAC_NFE=0.7291;ExAC_OTH=0.6558;ExAC_SAS=0.7361;CLNALLELEID=34156;CLNDN=Naxos_disease|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1832600,OMIM:601214,Orphanet:ORPHA34217|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.706;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.081;LRT_pred=N;MutationTaster_score=0.817;MutationTaster_pred=P;MutationAssessor_score=0.69;MutationAssessor_pred=N;FATHMM_score=0.31;FATHMM_pred=T;PROVEAN_score=-0.08;PROVEAN_pred=N;VEST3_score=0.106;CADD_raw=1.242;CADD_phred=11.97;DANN_score=0.691;fathmm-MKL_coding_score=0.683;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.959;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=1.12;phyloP7way_vertebrate=-0.013;phyloP20way_mammalian=1.061;phastCons7way_vertebrate=0.992;phastCons20way_mammalian=0.998;SiPhy_29way_logOdds=12.111;GDI_full_10282015=.;dpsi_max_tissue=-1.8241;dpsi_zscore=-1.841;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM150228#"Arrhythmogenic_right_ventricular_cardiomyopathy";gnomAD_exome_ALL=0.6478;gnomAD_exome_AFR=0.5978;gnomAD_exome_AMR=0.4460;gnomAD_exome_ASJ=0.6982;gnomAD_exome_EAS=0.3377;gnomAD_exome_FIN=0.6533;gnomAD_exome_NFE=0.7357;gnomAD_exome_OTH=0.6635;gnomAD_exome_SAS=0.7329;gnomAD_genome_ALL=0.6634;gnomAD_genome_AFR=0.6017;gnomAD_genome_AMR=0.4880;gnomAD_genome_ASJ=0.6821;gnomAD_genome_EAS=0.3202;gnomAD_genome_FIN=0.6645;gnomAD_genome_NFE=0.7421;gnomAD_genome_OTH=0.7119;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:108:0,48 1/1:147:0,147 1:145:0,73 1/1:145:0,145 1:136:0,54 . 1/1:145:0,145 1/1:149:0,149 1/1:167:0,167 1/1:143:0,143 . 1/1:180:0,180 1:201:0,77 1:165:0,90 1/1:234:0,234 1/1:171:0,171 1:182:0,85 1:191:0,74 1/1:146:0,146 1/1:147:0,147 1:132:0,56 1:189:0,82 1:270:0,124 1:231:0,109 1/1:179:0,179 . 1:152:0,67 1/1:200:0,200 1/1:210:0,210 1:199:0,91 . 1:96:0,44 1:165:0,80 1:139:0,67 1/1:176:0,176 1:158:0,58 1/1:134:0,134 1/1:110:0,110 1:124:0,64 1/1:197:0,197 1:184:0,82 1/1:118:0,118 17 39914971 . T C 200.00 . #_unique_end_positions=,53;#_unique_start_positions=,48;AC=1;AN=1;Amino_acid_change=,NP_002221.1:p.Tyr550Cys|_NP_068831.1:p.Tyr550Cys;Amino_acid_change_in_longest_transcript=,NP_002221.1:p.Tyr550Cys;BaseQRankSum=,0.41;Coding_region_change=,NM_002230.2:c.1649A>G|_NM_021991.2:c.1649A>G;Coding_region_change_in_longest_transcript=,NM_002230.2:c.1649A>G;Forward_read_coverage=,103;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:3728;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:3728;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:6207;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:6207;Homo_sapiens_refseq_GRCh37.p13_Genes=,JUP;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_002230.2|NM_021991.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene33388;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna48413|rna48412;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:173325;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:173325;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene33388;QUAL=,200.0;Read_count=,96;Read_coverage=,190;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.8439164716041723;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_002230.2|NM_021991.2;Reverse_read_coverage=,87;SF=30;conservation_score=,1.0;db_xref=,GeneID:3728|HGNC:HGNC:6207|MIM:173325;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_002230.2|Genbank:NM_021991.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,junction_plakoglobin;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,JUP;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,JUP;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARVD12|CTNNG|DP3|DPIII|PDGB|PKGB;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,junction_plakoglobin|_transcript_variant_1|junction_plakoglobin|_transcript_variant_2;transcript_id=,NM_002230.2|NM_021991.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=JUP;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=JUP:NM_002230:exon9:c.A1649G:p.Y550C,JUP:NM_021991:exon9:c.A1649G:p.Y550C;cytoBand=17q21.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.006;SIFT_pred=D;Polyphen2_HDIV_score=0.998;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.733;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.39;MutationAssessor_pred=M;FATHMM_score=-0.09;FATHMM_pred=T;PROVEAN_score=-3.83;PROVEAN_pred=D;VEST3_score=0.776;CADD_raw=5.519;CADD_phred=26.3;DANN_score=0.998;fathmm-MKL_coding_score=0.979;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.235;MetaSVM_pred=T;MetaLR_score=0.354;MetaLR_pred=T;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=5.12;phyloP7way_vertebrate=0.987;phyloP20way_mammalian=0.963;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=0.998;SiPhy_29way_logOdds=14.252;GDI_full_10282015=.;dpsi_max_tissue=-0.1196;dpsi_zscore=-0.505;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=7 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:174:0,89 . . . . . . . . . . . 17 39925452 . A G 200.00 . #_unique_end_positions=,49;#_unique_start_positions=,40;AC=1;AN=1;Amino_acid_change=,NP_002221.1:p.Val159Ala|_NP_068831.1:p.Val159Ala;Amino_acid_change_in_longest_transcript=,NP_002221.1:p.Val159Ala;BaseQRankSum=,-0.01;Coding_region_change=,NM_002230.2:c.476T>C|_NM_021991.2:c.476T>C;Coding_region_change_in_longest_transcript=,NM_002230.2:c.476T>C;Forward_read_coverage=,46;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:3728;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:3728;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:6207;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:6207;Homo_sapiens_refseq_GRCh37.p13_Genes=,JUP;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_002230.2|NM_021991.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene33388;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna48413|rna48412;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:173325;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:173325;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene33388;QUAL=,200.0;Read_count=,73;Read_coverage=,155;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9993930249097889;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_002230.2|NM_021991.2;Reverse_read_coverage=,109;SF=1;conservation_score=,1.0;db_xref=,GeneID:3728|HGNC:HGNC:6207|MIM:173325;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_002230.2|Genbank:NM_021991.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,junction_plakoglobin;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,JUP;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,JUP;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARVD12|CTNNG|DP3|DPIII|PDGB|PKGB;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,junction_plakoglobin|_transcript_variant_1|junction_plakoglobin|_transcript_variant_2;transcript_id=,NM_002230.2|NM_021991.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=JUP;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=JUP:NM_002230:exon4:c.T476C:p.V159A,JUP:NM_021991:exon4:c.T476C:p.V159A;cytoBand=17q21.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.05;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=1.965;MutationAssessor_pred=M;FATHMM_score=2.3;FATHMM_pred=T;PROVEAN_score=-3.5;PROVEAN_pred=D;VEST3_score=0.789;CADD_raw=5.856;CADD_phred=27.3;DANN_score=0.996;fathmm-MKL_coding_score=0.974;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.046;MetaSVM_pred=T;MetaLR_score=0.111;MetaLR_pred=T;integrated_fitCons_score=0.732;integrated_confidence_value=0;GERP++_RS=5.79;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.194;phastCons7way_vertebrate=0.990;phastCons20way_mammalian=0.998;SiPhy_29way_logOdds=15.315;GDI_full_10282015=.;dpsi_max_tissue=0.0941;dpsi_zscore=0.465;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.278e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=9.18e-06;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=7 GT:DP:CLCAD2 . 1:139:0,66 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 17 39925713 45851;rs41283425 C T 200.00 . #_unique_end_positions=,62;#_unique_start_positions=,50;AC=8;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0023;AF_ESP_clinvar_20171029_hg19=,0.0422;AF_EXAC_clinvar_20171029_hg19=,0.04974;AF_TGP_clinvar_20171029_hg19=,0.0240;ALLELEID_clinvar_20171029_hg19=,55016;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0331;AN=8;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_068831.1:p.Arg142His|_NP_002221.1:p.Arg142His;Amino_acid_change_in_longest_transcript=,NP_002221.1:p.Arg142His;BaseQRankSum=,-0.48;CAF_dbsnp_common_v150_hg19_refseq=,0.976|0.02396;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1832600|OMIM:601214|Orphanet:ORPHA34217|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNDN_clinvar_20171029_hg19=,Naxos_disease|not_specified|Cardiovascular_phenotype|Cardiomyopathy|_ARVC;CLNHGVS_clinvar_20171029_hg19=,NC_000017.10:g.39925713C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:69015|UniProtKB_(protein):P14923#VAR_065699;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_002230.2:c.425G>A|_NM_021991.2:c.425G>A;Coding_region_change_in_longest_transcript=,NM_002230.2:c.425G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0567;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,132;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,JUP:3728;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:3728;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:3728;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:6207;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:6207;Homo_sapiens_refseq_GRCh37.p13_Genes=,JUP;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_002230.2|NM_021991.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene33388;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna48413|rna48412;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:173325;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:173325;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene33388;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,39925713;RS_dbsnp_common_v150_hg19_refseq=,41283425;Read_count=,105;Read_coverage=,207;Read_direction_test_probability=,0.994546176391318;Read_position_test_probability=,0.5217709609793655;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_002230.2|NM_021991.2;Reverse_read_coverage=,75;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0378;SF=2,8,9,18,24,29,31,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050328000a05150436000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:3728|HGNC:HGNC:6207|MIM:173325;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_002230.2|Genbank:NM_021991.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,junction_plakoglobin;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,JUP;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,JUP;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARVD12|CTNNG|DP3|DPIII|PDGB|PKGB;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,junction_plakoglobin|_transcript_variant_1|junction_plakoglobin|_transcript_variant_2;transcript_id=,NM_002230.2|NM_021991.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=JUP;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=JUP:NM_002230:exon3:c.G425A:p.R142H,JUP:NM_021991:exon3:c.G425A:p.R142H;cytoBand=17q21.2;genomicSuperDups=.;esp6500siv2_all=0.0422;esp6500siv2_ea=0.0581;esp6500siv2_all=0.0422;esp6500siv2_ea=0.0581;1000g2015aug_all=0.0239617;avsnp147=rs41283425;Kaviar_AF=0.0426062;Kaviar_AC=6587;Kaviar_AN=154602;ExAC_ALL=0.0497;ExAC_AFR=0.0091;ExAC_AMR=0.0306;ExAC_EAS=0.0003;ExAC_FIN=0.0790;ExAC_NFE=0.0630;ExAC_OTH=0.0620;ExAC_SAS=0.0497;CLNALLELEID=55016;CLNDN=Naxos_disease|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_12|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1832600,OMIM:601214,Orphanet:ORPHA34217|MedGen:C1969081,OMIM:611528|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.008;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.993;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=2.235;MutationAssessor_pred=M;FATHMM_score=-0.11;FATHMM_pred=T;PROVEAN_score=-3.95;PROVEAN_pred=D;VEST3_score=0.773;CADD_raw=7.586;CADD_phred=34;DANN_score=1.000;fathmm-MKL_coding_score=0.967;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.562;MetaSVM_pred=T;MetaLR_score=0.095;MetaLR_pred=T;integrated_fitCons_score=0.732;integrated_confidence_value=0;GERP++_RS=5.52;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.885;phastCons20way_mammalian=0.996;SiPhy_29way_logOdds=18.433;GDI_full_10282015=.;dpsi_max_tissue=-0.3775;dpsi_zscore=-0.956;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM150229#"Arrhythmogenic_right_ventricular_cardiomyopathy";gnomAD_exome_ALL=0.0438;gnomAD_exome_AFR=0.0067;gnomAD_exome_AMR=0.0263;gnomAD_exome_ASJ=0.0663;gnomAD_exome_EAS=0.0004;gnomAD_exome_FIN=0.0567;gnomAD_exome_NFE=0.0563;gnomAD_exome_OTH=0.0529;gnomAD_exome_SAS=0.0430;gnomAD_genome_ALL=0.0451;gnomAD_genome_AFR=0.0072;gnomAD_genome_AMR=0.0334;gnomAD_genome_ASJ=0.0662;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0636;gnomAD_genome_NFE=0.0671;gnomAD_genome_OTH=0.0562;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:DP:CLCAD2 . . 1:192:0,99 . . . . . 1:243:0,115 1:211:0,109 . . . . . . . . 1:193:0,95 . . . . . 1:299:0,140 . . . . 1:282:0,110 . 1:131:0,72 . . . . . . . . . 1:159:0,73 17 39925925 45845;rs7405731 A G 187.53 . #_unique_end_positions=,41;#_unique_start_positions=,37;AC=69;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.8933;ALLELEID_clinvar_20171029_hg19=,55010;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5706;AN=69;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.22;CAF_dbsnp_common_v150_hg19_refseq=,0.2843|0.7157|.;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1832600|OMIM:601214|Orphanet:ORPHA34217|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNDN_clinvar_20171029_hg19=,Naxos_disease|not_specified|Cardiovascular_phenotype|Cardiomyopathy|_ARVC;CLNHGVS_clinvar_20171029_hg19=,NC_000017.10:g.39925925A>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:19650;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_002230.2:c.213T>C|_NM_021991.2:c.213T>C;Coding_region_change_in_longest_transcript=,NM_002230.2:c.213T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5238;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7525;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,28;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,JUP:3728;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:3728;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:3728;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:6207;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:6207;Homo_sapiens_refseq_GRCh37.p13_Genes=,JUP;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_002230.2|NM_021991.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene33388;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna48413|rna48412;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:173325;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:173325;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene33388;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,39925925;RS_dbsnp_common_v150_hg19_refseq=,7405731;Read_count=,81;Read_coverage=,138;Read_direction_test_probability=,0.9408989865706374;Read_position_test_probability=,0.945107658139094;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_002230.2|NM_021991.2;Reverse_read_coverage=,110;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7382;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05012800030515053e000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:3728|HGNC:HGNC:6207|MIM:173325;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_002230.2|Genbank:NM_021991.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,junction_plakoglobin;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,JUP;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,JUP;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARVD12|CTNNG|DP3|DPIII|PDGB|PKGB;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,junction_plakoglobin|_transcript_variant_1|junction_plakoglobin|_transcript_variant_2;transcript_id=,NM_002230.2|NM_021991.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=JUP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=JUP:NM_002230:exon3:c.T213C:p.D71D,JUP:NM_021991:exon3:c.T213C:p.D71D;cytoBand=17q21.2;genomicSuperDups=.;esp6500siv2_all=0.7956;esp6500siv2_ea=0.7552;esp6500siv2_all=0.7956;esp6500siv2_ea=0.7552;1000g2015aug_all=0.715655;avsnp147=rs7405731;Kaviar_AF=0.691272;Kaviar_AC=106872;Kaviar_AN=154602;ExAC_ALL=0.7364;ExAC_AFR=0.8888;ExAC_AMR=0.5461;ExAC_EAS=0.5325;ExAC_FIN=0.7068;ExAC_NFE=0.7622;ExAC_OTH=0.7446;ExAC_SAS=0.7603;CLNALLELEID=55010;CLNDN=Naxos_disease|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1832600,OMIM:601214,Orphanet:ORPHA34217|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1610;dpsi_zscore=0.642;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.7109;gnomAD_exome_AFR=0.8884;gnomAD_exome_AMR=0.5214;gnomAD_exome_ASJ=0.8254;gnomAD_exome_EAS=0.5099;gnomAD_exome_FIN=0.6806;gnomAD_exome_NFE=0.7581;gnomAD_exome_OTH=0.7264;gnomAD_exome_SAS=0.7585;gnomAD_genome_ALL=0.7654;gnomAD_genome_AFR=0.8828;gnomAD_genome_AMR=0.5632;gnomAD_genome_ASJ=0.8278;gnomAD_genome_EAS=0.5056;gnomAD_genome_FIN=0.6822;gnomAD_genome_NFE=0.7567;gnomAD_genome_OTH=0.7305;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:121:0,68 1/1:209:0,209 1/1:188:0,188 1/1:190:0,190 1/1:161:0,161 1:292:0,136 1/1:184:0,184 1:202:0,97 1/1:262:0,262 1/1:210:0,210 1/1:271:0,271 1/1:206:0,206 1/1:251:0,251 1/1:202:0,202 1/1:342:0,342 1/1:241:0,241 1/1:220:0,220 1/1:290:0,290 1/1:237:0,237 1:197:0,121 1:208:0,112 1:240:0,116 1/1:365:0,365 1:284:0,135 1/1:302:0,302 . 1/1:233:0,233 1/1:239:0,238 1/1:286:0,286 1:243:0,111 1:201:0,98 1/1:152:0,152 1/1:225:0,225 1:202:0,109 1/1:206:0,206 1:215:0,124 1/1:167:0,167 1/1:129:0,129 1:178:0,104 1/1:264:0,264 1:215:0,119 1/1:175:0,175 17 39928051 179756;rs570878629 G A 200.00 . #_unique_end_positions=,42;#_unique_start_positions=,35;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_EXAC_clinvar_20171029_hg19=,0.00011;AF_TGP_clinvar_20171029_hg19=,0.0002;ALLELEID_clinvar_20171029_hg19=,178295;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AN=1;Amino_acid_change=,NP_002221.1:p.Thr19Ile|_NP_068831.1:p.Thr19Ile;Amino_acid_change_in_longest_transcript=,NP_002221.1:p.Thr19Ile;BaseQRankSum=,-0.28;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1832600|OMIM:601214|Orphanet:ORPHA34217|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNDN_clinvar_20171029_hg19=,Naxos_disease|not_specified|Cardiovascular_phenotype|Cardiomyopathy|_ARVC;CLNHGVS_clinvar_20171029_hg19=,NC_000017.10:g.39928051G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:135514|UniProtKB_(protein):P14923#VAR_065698;Coding_region_change=,NM_002230.2:c.56C>T|_NM_021991.2:c.56C>T;Coding_region_change_in_longest_transcript=,NM_002230.2:c.56C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;Exact_match=,clinvar_20171029_hg19|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,50;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:3728;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:3728;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:6207;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:6207;Homo_sapiens_refseq_GRCh37.p13_Genes=,JUP;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_002230.2|NM_021991.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene33388;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna48413|rna48412;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:173325;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:173325;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene33388;QUAL=,200.0;Read_count=,76;Read_coverage=,153;Read_direction_test_probability=,0.9994499866992025;Read_position_test_probability=,0.9776840604351984;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_002230.2|NM_021991.2;Reverse_read_coverage=,103;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=34;conservation_score=,0.866;db_xref=,GeneID:3728|HGNC:HGNC:6207|MIM:173325;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_002230.2|Genbank:NM_021991.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,junction_plakoglobin;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,JUP;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,JUP;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARVD12|CTNNG|DP3|DPIII|PDGB|PKGB;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,junction_plakoglobin|_transcript_variant_1|junction_plakoglobin|_transcript_variant_2;transcript_id=,NM_002230.2|NM_021991.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=JUP;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=JUP:NM_002230:exon2:c.C56T:p.T19I,JUP:NM_021991:exon2:c.C56T:p.T19I;cytoBand=17q21.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.000199681;avsnp147=rs570878629;Kaviar_AF=9.7e-05;Kaviar_AC=15;Kaviar_AN=154602;ExAC_ALL=0.0001;ExAC_AFR=0;ExAC_AMR=0.0002;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0002;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=178295;CLNDN=Naxos_disease|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1832600,OMIM:601214,Orphanet:ORPHA34217|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.01;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.915;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.920;MutationTaster_pred=D;MutationAssessor_score=0.695;MutationAssessor_pred=N;FATHMM_score=0.94;FATHMM_pred=T;PROVEAN_score=-2.52;PROVEAN_pred=D;VEST3_score=0.444;CADD_raw=3.789;CADD_phred=23.4;DANN_score=0.998;fathmm-MKL_coding_score=0.868;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.809;MetaSVM_pred=T;MetaLR_score=0.140;MetaLR_pred=T;integrated_fitCons_score=0.731;integrated_confidence_value=0;GERP++_RS=4.05;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.038;phastCons7way_vertebrate=0.994;phastCons20way_mammalian=0.979;SiPhy_29way_logOdds=12.341;GDI_full_10282015=.;dpsi_max_tissue=1.1448;dpsi_zscore=1.605;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM098198#"Arrhythmogenic_right_ventricular_dysplasia/cardiomyopathy";gnomAD_exome_ALL=0.0001;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0003;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0002;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=3.234e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.68e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:144:0,73 . . . . . . . 17 48246607 167677 G A 200.00 . #_unique_end_positions=,28;#_unique_start_positions=,26;AC=1;AF_ESP_clinvar_20171029_hg19=,0.0002;AF_EXAC_clinvar_20171029_hg19=,0.00013;ALLELEID_clinvar_20171029_hg19=,177421;AN=1;Amino_acid_change=,NP_000014.1:p.Val247Met;Amino_acid_change_in_longest_transcript=,NP_000014.1:p.Val247Met;BaseQRankSum=,-0.68;CLNDISDB_clinvar_20171029_hg19=,.|MedGen:C1842550|OMIM:608099|MedGen:CN517202;CLNDN_clinvar_20171029_hg19=,not_provided|Limb-girdle_muscular_dystrophy|_type_2D|not_provided;CLNHGVS_clinvar_20171029_hg19=,NC_000017.10:g.48246607G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,HGMD:CM951157|UniProtKB_(protein):Q16586#VAR_010433;Coding_region_change=,NM_000023.3:c.739G>A|_NM_001135697.2:c.584+674G>A;Coding_region_change_in_longest_transcript=,NM_000023.3:c.739G>A;Exact_match=,clinvar_20171029_hg19;Forward_read_coverage=,30;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:6442;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:6442;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:10805;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:10805;Homo_sapiens_refseq_GRCh37.p13_Genes=,SGCA;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_000023.3|NR_135553.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene33692;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna48973|rna48974;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant|SO:0001627|intron_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:600119;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:600119;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene33692;QUAL=,200.0;Read_count=,37;Read_coverage=,84;Read_direction_test_probability=,0.9888745981425275;Read_position_test_probability=,0.6419304422162051;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_000023.3|NR_135553.1;Reverse_read_coverage=,54;SF=4;conservation_score=,0.986;db_xref=,GeneID:6442|HGNC:HGNC:10805|MIM:600119;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:02525;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_000023.3|HPRD:02525|Genbank:NR_135553.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,sarcoglycan_alpha;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA|misc_RNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SGCA;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SGCA;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,50DAG|adhalin|ADL|DAG2|DMDA2|LGMD2D|SCARMD1;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,sarcoglycan_alpha|_transcript_variant_1|sarcoglycan_alpha|_transcript_variant_3;transcript_id=,NM_000023.3|NR_135553.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA|transcript;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SGCA;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SGCA:NM_000023:exon6:c.G739A:p.V247M;cytoBand=17q21.33;genomicSuperDups=.;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;1000g2015aug_all=.;avsnp147=rs143570936;Kaviar_AF=0.0001164;Kaviar_AC=18;Kaviar_AN=154602;ExAC_ALL=0.0001;ExAC_AFR=0;ExAC_AMR=8.864e-05;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0002;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=177421;CLNDN=Limb-girdle_muscular_dystrophy,_type_2D;CLNDISDB=MedGen:C2936332,OMIM:608099,Orphanet:ORPHA62;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Pathogenic/Likely_pathogenic;SIFT_score=0.009;SIFT_pred=D;Polyphen2_HDIV_score=0.997;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.959;Polyphen2_HVAR_pred=D;LRT_score=0.002;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=1.7;MutationAssessor_pred=L;FATHMM_score=-4.6;FATHMM_pred=D;PROVEAN_score=-0.26;PROVEAN_pred=N;VEST3_score=0.738;CADD_raw=5.676;CADD_phred=26.7;DANN_score=0.999;fathmm-MKL_coding_score=0.838;fathmm-MKL_coding_pred=D;MetaSVM_score=1.044;MetaSVM_pred=D;MetaLR_score=0.919;MetaLR_pred=D;integrated_fitCons_score=0.422;integrated_confidence_value=0;GERP++_RS=3.85;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=8.184;GDI_full_10282015=.;dpsi_max_tissue=0.5510;dpsi_zscore=1.183;hgmdCODING=HGMD::Muscular_dystrophy,_limb_girdle#7663524;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM951157#"Muscular_dystrophy_limb_girdle";gnomAD_exome_ALL=0.0001;gnomAD_exome_AFR=6.542e-05;gnomAD_exome_AMR=2.981e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0002;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0002;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0004;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=8 GT:DP:CLCAD2 . . . . 1:77:0,35 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 17 48247689 130294;rs1801191 C T 200.00 . #_unique_end_positions=,36;#_unique_start_positions=,41;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2360;AF_ESP_clinvar_20171029_hg19=,0.0947;AF_EXAC_clinvar_20171029_hg19=,0.04497;AF_TGP_clinvar_20171029_hg19=,0.0787;ALLELEID_clinvar_20171029_hg19=,135741;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0288;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.13;CAF_dbsnp_common_v150_hg19_refseq=,0.9213|0.07867;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1842550|OMIM:608099|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Limb-girdle_muscular_dystrophy|_type_2D|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000017.10:g.48247689C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:80580;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000023.3:c.933C>T|_NM_001135697.2:c.585-312C>T;Coding_region_change_in_longest_transcript=,NM_000023.3:c.933C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0079;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0457;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,34;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,SGCA:6442;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:6442;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:6442;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:10805;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:10805;Homo_sapiens_refseq_GRCh37.p13_Genes=,SGCA;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_000023.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene33692;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna48973;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001627|intron_variant|SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:600119;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:600119;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene33692;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,48247689;RS_dbsnp_common_v150_hg19_refseq=,1801191;Read_count=,70;Read_coverage=,166;Read_direction_test_probability=,0.6244992287870987;Read_position_test_probability=,0.9745364399227211;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_000023.3;Reverse_read_coverage=,132;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0082;SF=17;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.88842|0.11158;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05016808030515053f100100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.122449;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0495495;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.0365854;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.0227273;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0116279;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.207865;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.03;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.151408;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.0287356;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.240909;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.897;db_xref=,GeneID:6442|HGNC:HGNC:10805|MIM:600119;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:02525;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_000023.3|HPRD:02525;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,sarcoglycan_alpha;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SGCA;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SGCA;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,50DAG|adhalin|ADL|DAG2|DMDA2|LGMD2D|SCARMD1;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,sarcoglycan_alpha|_transcript_variant_1;transcript_id=,NM_000023.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SGCA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SGCA:NM_000023:exon7:c.C933T:p.V311V;cytoBand=17q21.33;genomicSuperDups=.;esp6500siv2_all=0.0947;esp6500siv2_ea=0.0416;esp6500siv2_all=0.0947;esp6500siv2_ea=0.0416;1000g2015aug_all=0.0786741;avsnp147=rs1801191;Kaviar_AF=0.0452517;Kaviar_AC=6996;Kaviar_AN=154602;ExAC_ALL=0.0450;ExAC_AFR=0.2078;ExAC_AMR=0.0225;ExAC_EAS=0.0080;ExAC_FIN=0.0336;ExAC_NFE=0.0381;ExAC_OTH=0.0342;ExAC_SAS=0.0104;CLNALLELEID=135741;CLNDN=Limb-girdle_muscular_dystrophy,_type_2D|not_specified;CLNDISDB=MedGen:C2936332,OMIM:608099,Orphanet:ORPHA62|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.2437;dpsi_zscore=-0.765;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0419;gnomAD_exome_AFR=0.2069;gnomAD_exome_AMR=0.0283;gnomAD_exome_ASJ=0.0467;gnomAD_exome_EAS=0.0073;gnomAD_exome_FIN=0.0325;gnomAD_exome_NFE=0.0388;gnomAD_exome_OTH=0.0429;gnomAD_exome_SAS=0.0099;gnomAD_genome_ALL=0.0845;gnomAD_genome_AFR=0.2045;gnomAD_genome_AMR=0.0382;gnomAD_genome_ASJ=0.0530;gnomAD_genome_EAS=0.0086;gnomAD_genome_FIN=0.0335;gnomAD_genome_NFE=0.0406;gnomAD_genome_OTH=0.0458;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . 1:155:0,70 . . . . . . . . . . . . . . . . . . . . . . . . 17 68172326 137988;rs173135 C T 195.48 . #_unique_end_positions=,35;#_unique_start_positions=,28;AC=16;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1551;AF_ESP_clinvar_20171029_hg19=,0.1226;AF_EXAC_clinvar_20171029_hg19=,0.13372;AF_TGP_clinvar_20171029_hg19=,0.1540;ALLELEID_clinvar_20171029_hg19=,141691;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2392;AN=16;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.18;CAF_dbsnp_common_v150_hg19_refseq=,0.846|0.154;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1563715|OMIM:170390|Orphanet:ORPHA37553|SNOMED_CT:422348008|MedGen:C2348199|Orphanet:ORPHA51083|MedGen:CN169374|MedGen:CN204347|Orphanet:ORPHA334|MedGen:CN230736;CLNDN_clinvar_20171029_hg19=,Andersen_Tawil_syndrome|short_QT_syndrome|not_specified|Familial_atrial_fibrillation|Cardiovascular_phenotype;CLNHGVS_clinvar_20171029_hg19=,NC_000017.10:g.68172326C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:20561;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000891.2:c.1146C>T;Coding_region_change_in_longest_transcript=,NM_000891.2:c.1146C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1310;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1203;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,42;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,KCNJ2:3759;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:3759;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:3759;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:6263;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:6263;Homo_sapiens_refseq_GRCh37.p13_Genes=,KCNJ2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_000891.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene34024;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna49523;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:600681;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:600681;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene34024;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,68172326;RS_dbsnp_common_v150_hg19_refseq=,173135;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,48;Read_coverage=,98;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9976999411302464;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_000891.2;Reverse_read_coverage=,56;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1503;SF=8,9,12,14,16,20,22,24,26,27,29,30,32,37,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.875884|0.124116;TPA_dbsnp_common_v150_hg19_refseq=,TPA;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050178000305170537100100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.142857;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.119469;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.146341;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.135294;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.130682;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.116279;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0639535;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.211111;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.29;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.123239;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.119318;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.15625;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.998;db_xref=,GeneID:3759|HGNC:HGNC:6263|MIM:600681;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:02815;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_000891.2|HPRD:02815;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,potassium_voltage-gated_channel_subfamily_J_member_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,KCNJ2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,KCNJ2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ATFB9|HHBIRK1|HHIRK1|IRK1|KIR2.1|LQT7|SQT3;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,potassium_voltage-gated_channel_subfamily_J_member_2;transcript_id=,NM_000891.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KCNJ2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCNJ2:NM_000891:exon2:c.C1146T:p.L382L;cytoBand=17q24.3;genomicSuperDups=.;esp6500siv2_all=0.1226;esp6500siv2_ea=0.1186;esp6500siv2_all=0.1226;esp6500siv2_ea=0.1186;1000g2015aug_all=0.153954;avsnp147=rs173135;Kaviar_AF=0.128841;Kaviar_AC=19919;Kaviar_AN=154602;ExAC_ALL=0.1337;ExAC_AFR=0.1371;ExAC_AMR=0.2420;ExAC_EAS=0.1060;ExAC_FIN=0.0918;ExAC_NFE=0.1167;ExAC_OTH=0.1433;ExAC_SAS=0.1553;CLNALLELEID=141691;CLNDN=Andersen_Tawil_syndrome|short_QT_syndrome|not_specified|Familial_atrial_fibrillation|Cardiovascular_phenotype;CLNDISDB=MedGen:C1563715,OMIM:170390,Orphanet:ORPHA37553,SNOMED_CT:422348008|MedGen:C2348199,Orphanet:ORPHA51083|MedGen:CN169374|MedGen:CN204347,Orphanet:ORPHA334|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=HGMD::Andersen-Tawil_syndrome#22739561;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM128893#"3-Hydroxybuyrate_levels_association_with";gnomAD_exome_ALL=0.1364;gnomAD_exome_AFR=0.1356;gnomAD_exome_AMR=0.2288;gnomAD_exome_ASJ=0.1244;gnomAD_exome_EAS=0.1063;gnomAD_exome_FIN=0.0908;gnomAD_exome_NFE=0.1172;gnomAD_exome_OTH=0.1406;gnomAD_exome_SAS=0.1584;gnomAD_genome_ALL=0.1183;gnomAD_genome_AFR=0.1352;gnomAD_genome_AMR=0.2243;gnomAD_genome_ASJ=0.1093;gnomAD_genome_EAS=0.1033;gnomAD_genome_FIN=0.0864;gnomAD_genome_NFE=0.1124;gnomAD_genome_OTH=0.1094;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . 1:92:0,46 1:80:0,47 . . 1:110:0,37 . 1:131:0,54 . 1/1:96:0,96 . . . 1:100:0,45 . 1:78:0,41 . 1:126:0,70 . 1:92:0,43 1:130:0,67 . 1:114:0,55 1:83:0,32 . 1:67:0,24 . . . . 1:71:0,42 . . . 1:84:0,39 17 68172409 190804;rs141069645 A G 200.00 . #_unique_end_positions=,21;#_unique_start_positions=,20;AC=2;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0003;AF_EXAC_clinvar_20171029_hg19=,0.00037;AF_TGP_clinvar_20171029_hg19=,0.0002;ALLELEID_clinvar_20171029_hg19=,188666;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0014;AN=2;Amino_acid_change=,NP_000882.1:p.Asn410Ser;Amino_acid_change_in_longest_transcript=,NP_000882.1:p.Asn410Ser;BaseQRankSum=,0.61;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1563715|OMIM:170390|Orphanet:ORPHA37553|SNOMED_CT:422348008|MedGen:C1865018|OMIM:609622|MedGen:C2348199|Orphanet:ORPHA51083|MedGen:CN169374|MedGen:CN204347|Orphanet:ORPHA334;CLNDN_clinvar_20171029_hg19=,Andersen_Tawil_syndrome|Short_QT_syndrome_3|short_QT_syndrome|not_specified|Familial_atrial_fibrillation;CLNHGVS_clinvar_20171029_hg19=,NC_000017.10:g.68172409A>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_conflicting_interpretations;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,ARUP_Laboratories|_Molecular_Genetics_and_Genomics:160621|Illumina_Clinical_Services_Laboratory|Illumina:758050;Coding_region_change=,NM_000891.2:c.1229A>G;Coding_region_change_in_longest_transcript=,NM_000891.2:c.1229A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;Exact_match=,clinvar_20171029_hg19|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,25;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:3759;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:3759;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:6263;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:6263;Homo_sapiens_refseq_GRCh37.p13_Genes=,KCNJ2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_000891.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene34024;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna49523;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:600681;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:600681;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene34024;QUAL=,200.0;Read_count=,28;Read_coverage=,65;Read_direction_test_probability=,0.8633587526284758;Read_position_test_probability=,0.7681585169176524;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_000891.2;Reverse_read_coverage=,40;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=4,33;conservation_score=,1.0;db_xref=,GeneID:3759|HGNC:HGNC:6263|MIM:600681;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:02815;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_000891.2|HPRD:02815;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,potassium_voltage-gated_channel_subfamily_J_member_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,KCNJ2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,KCNJ2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ATFB9|HHBIRK1|HHIRK1|IRK1|KIR2.1|LQT7|SQT3;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,potassium_voltage-gated_channel_subfamily_J_member_2;transcript_id=,NM_000891.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KCNJ2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=KCNJ2:NM_000891:exon2:c.A1229G:p.N410S;cytoBand=17q24.3;genomicSuperDups=.;esp6500siv2_all=0.0003;esp6500siv2_ea=0.0002;esp6500siv2_all=0.0003;esp6500siv2_ea=0.0002;1000g2015aug_all=0.000199681;avsnp147=rs141069645;Kaviar_AF=0.000304;Kaviar_AC=47;Kaviar_AN=154602;ExAC_ALL=0.0004;ExAC_AFR=0.0007;ExAC_AMR=0.0016;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0003;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=188666;CLNDN=Andersen_Tawil_syndrome|Short_QT_syndrome_3|short_QT_syndrome|not_specified|Familial_atrial_fibrillation|Cardiovascular_phenotype;CLNDISDB=MedGen:C1563715,OMIM:170390,Orphanet:ORPHA37553,SNOMED_CT:422348008|MedGen:C1865018,OMIM:609622|MedGen:C2348199,Orphanet:ORPHA51083|MedGen:CN169374|MedGen:CN204347,Orphanet:ORPHA334|MedGen:CN230736;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.814;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.978;MutationTaster_pred=D;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=-2.23;FATHMM_pred=D;PROVEAN_score=-0.61;PROVEAN_pred=N;VEST3_score=0.022;CADD_raw=0.003;CADD_phred=2.612;DANN_score=0.226;fathmm-MKL_coding_score=0.861;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.642;MetaSVM_pred=T;MetaLR_score=0.343;MetaLR_pred=T;integrated_fitCons_score=0.672;integrated_confidence_value=0;GERP++_RS=5.0;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.199;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=10.047;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=HGMD::Long_QT_syndrome#NO_ID;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM1313311#"Long_QT_syndrome";gnomAD_exome_ALL=0.0003;gnomAD_exome_AFR=0.0007;gnomAD_exome_AMR=0.0009;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=4.485e-05;gnomAD_exome_NFE=0.0003;gnomAD_exome_OTH=0.0011;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0003;gnomAD_genome_AFR=0.0006;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0002;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:DP:CLCAD2 . . . . 1:58:0,26 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:71:0,33 . . . . . . . . 17 78078656 4020;rs1800299 G A 200.00 . #_unique_end_positions=,41;#_unique_start_positions=,32;AC=2;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0053;AF_ESP_clinvar_20171029_hg19=,0.0231;AF_EXAC_clinvar_20171029_hg19=,0.02110;AF_TGP_clinvar_20171029_hg19=,0.0116;ALLELEID_clinvar_20171029_hg19=,19059;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0173;AN=2;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001073272.1:p.Asp91Asn|_NP_000143.2:p.Asp91Asn|_NP_001073271.1:p.Asp91Asn;Amino_acid_change_in_longest_transcript=,NP_000143.2:p.Asp91Asn;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.9884|0.01158|.;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1847465|MedGen:CN169374|MedGen:CN517202;CLNDN_clinvar_20171029_hg19=,Acid_alpha-glucosidase|_allele_2|not_specified|not_provided;CLNHGVS_clinvar_20171029_hg19=,NC_000017.10:g.78078656G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,HGMD:CD983801|OMIM_Allelic_Variant:606800.0001|UniProtKB_(protein):P10253#VAR_004285;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000152.4:c.271G>A|_NM_001079803.2:c.271G>A|_NM_001079804.2:c.271G>A;Coding_region_change_in_longest_transcript=,NM_000152.4:c.271G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0278;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,104;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,GAA:2548;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:2548;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:2548;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:4065;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:4065;Homo_sapiens_refseq_GRCh37.p13_Genes=,GAA;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001079804.2|NM_000152.4|NM_001079803.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene34238;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna49936|rna49934|rna49935;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:606800;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:606800;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;OM_dbsnp_common_v150_hg19_refseq=,OM;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene34238;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,78078656;RS_dbsnp_common_v150_hg19_refseq=,1800299;Read_count=,64;Read_coverage=,172;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.7276100541051288;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001079804.2|NM_000152.4|NM_001079803.2;Reverse_read_coverage=,68;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0102;SF=4,40;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.981008|0.0189917|.;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050368000a05150536110100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.992;db_xref=,GeneID:2548|HGNC:HGNC:4065|MIM:606800;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001079804.2|Genbank:NM_000152.4|Genbank:NM_001079803.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,glucosidase_alpha|_acid;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GAA;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GAA;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LYAG;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,glucosidase_alpha|_acid|_transcript_variant_3|glucosidase_alpha|_acid|_transcript_variant_1|glucosidase_alpha|_acid|_transcript_variant_2;transcript_id=,NM_001079804.2|NM_000152.4|NM_001079803.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=GAA:NM_000152:exon2:c.G271A:p.D91N,GAA:NM_001079804:exon2:c.G271A:p.D91N,GAA:NM_001079803:exon3:c.G271A:p.D91N;cytoBand=17q25.3;genomicSuperDups=.;esp6500siv2_all=0.0231;esp6500siv2_ea=0.0315;esp6500siv2_all=0.0231;esp6500siv2_ea=0.0315;1000g2015aug_all=0.0115815;avsnp147=rs1800299;Kaviar_AF=0.0213969;Kaviar_AC=3308;Kaviar_AN=154602;ExAC_ALL=0.0211;ExAC_AFR=0.0064;ExAC_AMR=0.0091;ExAC_EAS=0.0001;ExAC_FIN=0.0207;ExAC_NFE=0.0317;ExAC_OTH=0.0165;ExAC_SAS=0.0078;CLNALLELEID=19059;CLNDN=Glycogen_storage_disease,_type_II|Acid_alpha-glucosidase,_allele_2|not_specified|not_provided;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:C1847465|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=other;SIFT_score=0.101;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=1.395;MutationAssessor_pred=L;FATHMM_score=0.35;FATHMM_pred=T;PROVEAN_score=-4.31;PROVEAN_pred=D;VEST3_score=0.165;CADD_raw=4.921;CADD_phred=25.0;DANN_score=0.995;fathmm-MKL_coding_score=0.983;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.791;MetaSVM_pred=T;MetaLR_score=0.117;MetaLR_pred=T;integrated_fitCons_score=0.696;integrated_confidence_value=0;GERP++_RS=4.94;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.953;phastCons7way_vertebrate=0.942;phastCons20way_mammalian=0.507;SiPhy_29way_logOdds=16.922;GDI_full_10282015=.;dpsi_max_tissue=-1.1205;dpsi_zscore=-1.540;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM155935#"Glycogen_storage_disease_2";gnomAD_exome_ALL=0.0204;gnomAD_exome_AFR=0.0058;gnomAD_exome_AMR=0.0117;gnomAD_exome_ASJ=0.0136;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0.0179;gnomAD_exome_NFE=0.0327;gnomAD_exome_OTH=0.0189;gnomAD_exome_SAS=0.0081;gnomAD_genome_ALL=0.0216;gnomAD_genome_AFR=0.0060;gnomAD_genome_AMR=0.0131;gnomAD_genome_ASJ=0.0132;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0161;gnomAD_genome_NFE=0.0350;gnomAD_genome_OTH=0.0214;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . 1:160:0,59 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:241:0,111 . 17 78078709 92484;rs1800300 T C 184.97 . #_unique_end_positions=,48;#_unique_start_positions=,50;AC=68;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7186;ALLELEID_clinvar_20171029_hg19=,98393;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5620;AN=68;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.43;CAF_dbsnp_common_v150_hg19_refseq=,0.2855|0.7145;CLNDISDB_clinvar_20171029_hg19=,MedGen:C0008780|Orphanet:ORPHA244|MedGen:C0017921|OMIM:232300|Orphanet:ORPHA365|SNOMED_CT:124462004|SNOMED_CT:237967002|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Primary_ciliary_dyskinesia|Glycogen_storage_disease|_type_II|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000017.10:g.78078709T>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:21181;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000152.4:c.324T>C|_NM_001079803.2:c.324T>C|_NM_001079804.2:c.324T>C;Coding_region_change_in_longest_transcript=,NM_000152.4:c.324T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6518;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7634;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,90;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,GAA:2548;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:2548;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:2548;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:4065;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:4065;Homo_sapiens_refseq_GRCh37.p13_Genes=,GAA;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001079804.2|NM_000152.4|NM_001079803.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene34238;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna49936|rna49934|rna49935;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:606800;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:606800;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene34238;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,78078709;RS_dbsnp_common_v150_hg19_refseq=,1800300;Read_count=,92;Read_coverage=,180;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9337955997733602;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001079804.2|NM_000152.4|NM_001079803.2;Reverse_read_coverage=,90;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.8313;SF=0,1,2,3,4,5,6,7,8,9,10,12,13,14,15,16,17,18,19,20,21,22,24,25,26,27,28,29,30,31,32,33,34,35,36,37,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.291847|0.708153;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05032800030517053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.72449;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.727679;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.695122;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.660714;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.829545;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.639535;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.688235;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.75;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.53125;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.767045;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.630631;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:2548|HGNC:HGNC:4065|MIM:606800;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001079804.2|Genbank:NM_000152.4|Genbank:NM_001079803.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,glucosidase_alpha|_acid;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GAA;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GAA;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LYAG;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,glucosidase_alpha|_acid|_transcript_variant_3|glucosidase_alpha|_acid|_transcript_variant_1|glucosidase_alpha|_acid|_transcript_variant_2;transcript_id=,NM_001079804.2|NM_000152.4|NM_001079803.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GAA:NM_000152:exon2:c.T324C:p.C108C,GAA:NM_001079804:exon2:c.T324C:p.C108C,GAA:NM_001079803:exon3:c.T324C:p.C108C;cytoBand=17q25.3;genomicSuperDups=.;esp6500siv2_all=0.7316;esp6500siv2_ea=0.7490;esp6500siv2_all=0.7316;esp6500siv2_ea=0.7490;1000g2015aug_all=0.714457;avsnp147=rs1800300;Kaviar_AF=0.0031112;Kaviar_AC=481;Kaviar_AN=154602;ExAC_ALL=0.7367;ExAC_AFR=0.7094;ExAC_AMR=0.5074;ExAC_EAS=0.6370;ExAC_FIN=0.8006;ExAC_NFE=0.7654;ExAC_OTH=0.7609;ExAC_SAS=0.8214;CLNALLELEID=98393;CLNDN=Ciliary_dyskinesia|Glycogen_storage_disease,_type_II|not_specified|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244|MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.5658;dpsi_zscore=1.197;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.7238;gnomAD_exome_AFR=0.6994;gnomAD_exome_AMR=0.5130;gnomAD_exome_ASJ=0.7994;gnomAD_exome_EAS=0.6313;gnomAD_exome_FIN=0.8005;gnomAD_exome_NFE=0.7563;gnomAD_exome_OTH=0.7414;gnomAD_exome_SAS=0.8178;gnomAD_genome_ALL=0.7276;gnomAD_genome_AFR=0.6914;gnomAD_genome_AMR=0.5395;gnomAD_genome_ASJ=0.7881;gnomAD_genome_EAS=0.6167;gnomAD_genome_FIN=0.7908;gnomAD_genome_NFE=0.7533;gnomAD_genome_OTH=0.7571;Whole_Blood=Whole_Blood::0.277778::-0.317424;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:155:0,79 1/1:226:0,226 1/1:237:0,237 1/1:214:0,214 1/1:212:0,211 1/1:290:0,290 1/1:172:0,172 1/1:221:0,221 1/1:282:0,282 1/1:236:0,236 1/1:322:0,322 . 1/1:286:0,286 1/1:271:0,271 1/1:387:0,387 1:267:0,138 1/1:245:0,245 1:255:0,123 1/1:219:0,219 1/1:240:0,239 1/1:259:0,259 1:301:0,169 1/1:364:0,364 . 1:304:0,156 1/1:253:0,253 1/1:263:0,262 1/1:306:0,306 1/1:320:0,320 1:286:0,135 1/1:245:0,245 1/1:194:0,194 1:217:0,109 1/1:205:0,205 1/1:251:0,251 1/1:225:0,225 1:181:0,99 1:184:0,85 . 1:258:0,138 1/1:238:0,238 1/1:232:0,232 17 78079597 92486;rs1042393 A G 186.43 . #_unique_end_positions=,34;#_unique_start_positions=,32;AC=69;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5212;ALLELEID_clinvar_20171029_hg19=,98395;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5418;AN=69;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001073272.1:p.His199Arg|_NP_000143.2:p.His199Arg|_NP_001073271.1:p.His199Arg;Amino_acid_change_in_longest_transcript=,NP_000143.2:p.His199Arg;BaseQRankSum=,0.42;CAF_dbsnp_common_v150_hg19_refseq=,0.3992|0.6008;CLNDISDB_clinvar_20171029_hg19=,MedGen:C0017921|OMIM:232300|Orphanet:ORPHA365|SNOMED_CT:124462004|SNOMED_CT:237967002|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Glycogen_storage_disease|_type_II|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000017.10:g.78079597A>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:21193|UniProtKB_(protein):P10253#VAR_004286;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000152.4:c.596A>G|_NM_001079803.2:c.596A>G|_NM_001079804.2:c.596A>G;Coding_region_change_in_longest_transcript=,NM_000152.4:c.596A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5437;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7535;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,50;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,GAA:2548;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:2548;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:2548;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:4065;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:4065;Homo_sapiens_refseq_GRCh37.p13_Genes=,GAA;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001079804.2|NM_000152.4|NM_001079803.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene34238;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna49936|rna49934|rna49935;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:606800;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:606800;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene34238;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,78079597;RS_dbsnp_common_v150_hg19_refseq=,1042393;Read_count=,55;Read_coverage=,98;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9986335506138836;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001079804.2|NM_000152.4|NM_001079803.2;Reverse_read_coverage=,48;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6524;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,24,25,26,27,28,29,30,31,32,33,34,35,36,37,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.370046|0.629954;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050328000a0517053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.740385;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.41;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.0;db_xref=,GeneID:2548|HGNC:HGNC:4065|MIM:606800;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001079804.2|Genbank:NM_000152.4|Genbank:NM_001079803.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,glucosidase_alpha|_acid;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GAA;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GAA;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LYAG;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,glucosidase_alpha|_acid|_transcript_variant_3|glucosidase_alpha|_acid|_transcript_variant_1|glucosidase_alpha|_acid|_transcript_variant_2;transcript_id=,NM_001079804.2|NM_000152.4|NM_001079803.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=GAA:NM_000152:exon3:c.A596G:p.H199R,GAA:NM_001079804:exon3:c.A596G:p.H199R,GAA:NM_001079803:exon4:c.A596G:p.H199R;cytoBand=17q25.3;genomicSuperDups=.;esp6500siv2_all=0.6725;esp6500siv2_ea=0.7383;esp6500siv2_all=0.6725;esp6500siv2_ea=0.7383;1000g2015aug_all=0.600839;avsnp147=rs1042393;Kaviar_AF=0.670573;Kaviar_AC=103672;Kaviar_AN=154602;ExAC_ALL=0.6746;ExAC_AFR=0.5412;ExAC_AMR=0.4591;ExAC_EAS=0.5293;ExAC_FIN=0.7637;ExAC_NFE=0.7455;ExAC_OTH=0.7173;ExAC_SAS=0.6618;CLNALLELEID=98395;CLNDN=Glycogen_storage_disease,_type_II|not_specified;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.702;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.263;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-2.92;MutationAssessor_pred=N;FATHMM_score=-1.42;FATHMM_pred=T;PROVEAN_score=1.71;PROVEAN_pred=N;VEST3_score=0.174;CADD_raw=-1.974;CADD_phred=0.001;DANN_score=0.420;fathmm-MKL_coding_score=0.024;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.892;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.696;integrated_confidence_value=0;GERP++_RS=-2.36;phyloP7way_vertebrate=-0.362;phyloP20way_mammalian=-0.388;phastCons7way_vertebrate=0.018;phastCons20way_mammalian=0.006;SiPhy_29way_logOdds=12.466;GDI_full_10282015=.;dpsi_max_tissue=0.0757;dpsi_zscore=0.402;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.6686;gnomAD_exome_AFR=0.5362;gnomAD_exome_AMR=0.4734;gnomAD_exome_ASJ=0.7789;gnomAD_exome_EAS=0.5311;gnomAD_exome_FIN=0.7610;gnomAD_exome_NFE=0.7402;gnomAD_exome_OTH=0.7061;gnomAD_exome_SAS=0.6616;gnomAD_genome_ALL=0.6677;gnomAD_genome_AFR=0.5355;gnomAD_genome_AMR=0.5048;gnomAD_genome_ASJ=0.7748;gnomAD_genome_EAS=0.5391;gnomAD_genome_FIN=0.7599;gnomAD_genome_NFE=0.7399;gnomAD_genome_OTH=0.7270;Whole_Blood=Whole_Blood::0.304878::-0.331363;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:78:0,42 1/1:105:0,105 1/1:107:0,107 1/1:121:0,121 1/1:94:0,94 1/1:132:0,132 1/1:107:0,107 1/1:99:0,99 1/1:131:0,131 1/1:115:0,115 1/1:139:0,139 1:129:0,69 1/1:131:0,131 1/1:148:0,148 1/1:177:0,177 1:135:0,55 1/1:145:0,145 1:154:0,75 1/1:117:0,117 1/1:107:0,107 1/1:159:0,159 1:164:0,78 1/1:185:0,185 . 1:164:0,84 1/1:93:0,93 1/1:114:0,114 1/1:178:0,178 1/1:180:0,180 1:170:0,78 1/1:154:0,153 1/1:72:0,72 1:132:0,66 1/1:116:0,116 1/1:107:0,107 1/1:134:0,134 1:114:0,50 1:99:0,41 . 1:147:0,55 1/1:154:0,154 1/1:115:0,115 17 78079643 92487;rs1800301 C T 193.93 . #_unique_end_positions=,32;#_unique_start_positions=,25;AC=26;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0582;AF_ESP_clinvar_20171029_hg19=,0.1722;AF_EXAC_clinvar_20171029_hg19=,0.18023;AF_TGP_clinvar_20171029_hg19=,0.1060;ALLELEID_clinvar_20171029_hg19=,98396;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1138;AN=26;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.15;CAF_dbsnp_common_v150_hg19_refseq=,0.894|.|0.106;CLNDISDB_clinvar_20171029_hg19=,MedGen:C0017921|OMIM:232300|Orphanet:ORPHA365|SNOMED_CT:124462004|SNOMED_CT:237967002|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Glycogen_storage_disease|_type_II|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000017.10:g.78079643C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:62626;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000152.4:c.642C>T|_NM_001079803.2:c.642C>T|_NM_001079804.2:c.642C>T;Coding_region_change_in_longest_transcript=,NM_000152.4:c.642C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0020;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2276;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,40;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,GAA:2548;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:2548;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:2548;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:4065;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:4065;Homo_sapiens_refseq_GRCh37.p13_Genes=,GAA;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001079804.2|NM_000152.4|NM_001079803.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene34238;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna49936|rna49934|rna49935;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:606800;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:606800;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene34238;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,78079643;RS_dbsnp_common_v150_hg19_refseq=,1800301;Read_count=,47;Read_coverage=,86;Read_direction_test_probability=,0.9789817313413647;Read_position_test_probability=,0.9254399039816766;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001079804.2|NM_000152.4|NM_001079803.2;Reverse_read_coverage=,46;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1472;SF=0,2,7,8,9,10,13,14,15,16,18,19,20,21,22,25,26,27,28,31,33,39,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.860808|3.4343e-005|0.139158;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05032800030515053e000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.012;db_xref=,GeneID:2548|HGNC:HGNC:4065|MIM:606800;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001079804.2|Genbank:NM_000152.4|Genbank:NM_001079803.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,glucosidase_alpha|_acid;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GAA;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GAA;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LYAG;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,glucosidase_alpha|_acid|_transcript_variant_3|glucosidase_alpha|_acid|_transcript_variant_1|glucosidase_alpha|_acid|_transcript_variant_2;transcript_id=,NM_001079804.2|NM_000152.4|NM_001079803.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GAA:NM_000152:exon3:c.C642T:p.S214S,GAA:NM_001079804:exon3:c.C642T:p.S214S,GAA:NM_001079803:exon4:c.C642T:p.S214S;cytoBand=17q25.3;genomicSuperDups=.;esp6500siv2_all=0.1722;esp6500siv2_ea=0.22;esp6500siv2_all=0.1722;esp6500siv2_ea=0.22;1000g2015aug_all=0.10603;avsnp147=rs1800301;Kaviar_AF=0.178484;Kaviar_AC=27594;Kaviar_AN=154602;ExAC_ALL=0.1802;ExAC_AFR=0.0762;ExAC_AMR=0.0961;ExAC_EAS=0.0009;ExAC_FIN=0.2508;ExAC_NFE=0.2307;ExAC_OTH=0.1939;ExAC_SAS=0.1673;CLNALLELEID=98396;CLNDN=Glycogen_storage_disease,_type_II|not_specified|not_provided;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.3860;dpsi_zscore=-0.967;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1790;gnomAD_exome_AFR=0.0710;gnomAD_exome_AMR=0.0990;gnomAD_exome_ASJ=0.2994;gnomAD_exome_EAS=0.0006;gnomAD_exome_FIN=0.2432;gnomAD_exome_NFE=0.2254;gnomAD_exome_OTH=0.2045;gnomAD_exome_SAS=0.1709;gnomAD_genome_ALL=0.1648;gnomAD_genome_AFR=0.0746;gnomAD_genome_AMR=0.1136;gnomAD_genome_ASJ=0.3133;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.2534;gnomAD_genome_NFE=0.2138;gnomAD_genome_OTH=0.1714;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:76:0,41 . 1/1:112:0,112 . . . . 1:96:0,40 1:124:0,59 1:114:0,56 1/1:130:0,129 . . 1:143:0,71 1:179:0,83 1:131:0,61 1:136:0,68 . 1:123:0,57 1:97:0,47 1/1:139:0,139 1:172:0,83 1:176:0,105 . . 1:110:0,58 1:105:0,42 1:166:0,83 1:162:0,85 . . 1:69:0,22 . 1:93:0,42 . . . . . 1:155:0,64 . 1:103:0,51 17 78079669 92488;rs1042395 G A 194.87 . #_unique_end_positions=,31;#_unique_start_positions=,25;AC=69;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5212;ALLELEID_clinvar_20171029_hg19=,98397;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5418;AN=69;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001073272.1:p.Arg223His|_NP_001073271.1:p.Arg223His|_NP_000143.2:p.Arg223His;Amino_acid_change_in_longest_transcript=,NP_000143.2:p.Arg223His;BaseQRankSum=,0.38;CAF_dbsnp_common_v150_hg19_refseq=,0.3976|0.6024;CLNDISDB_clinvar_20171029_hg19=,MedGen:C0017921|OMIM:232300|Orphanet:ORPHA365|SNOMED_CT:124462004|SNOMED_CT:237967002|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Glycogen_storage_disease|_type_II|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000017.10:g.78079669G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:21200|UniProtKB_(protein):P10253#VAR_004287;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000152.4:c.668G>A|_NM_001079803.2:c.668G>A|_NM_001079804.2:c.668G>A;Coding_region_change_in_longest_transcript=,NM_000152.4:c.668G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5437;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7535;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,47;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,GAA:2548;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:2548;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:2548;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:4065;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:4065;Homo_sapiens_refseq_GRCh37.p13_Genes=,GAA;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001079804.2|NM_000152.4|NM_001079803.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene34238;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna49936|rna49934|rna49935;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:606800;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:606800;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene34238;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,78079669;RS_dbsnp_common_v150_hg19_refseq=,1042395;Read_count=,47;Read_coverage=,94;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9370163754830371;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001079804.2|NM_000152.4|NM_001079803.2;Reverse_read_coverage=,47;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6605;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,24,25,26,27,28,29,30,31,32,33,34,35,36,37,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.369909|0.630091;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050328000a05170537000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.561224;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.725664;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.646341;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.547059;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.664773;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.569767;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.552941;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.555556;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.5;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.664336;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.767045;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.438053;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.941;db_xref=,GeneID:2548|HGNC:HGNC:4065|MIM:606800;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001079804.2|Genbank:NM_000152.4|Genbank:NM_001079803.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,glucosidase_alpha|_acid;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GAA;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GAA;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LYAG;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,glucosidase_alpha|_acid|_transcript_variant_3|glucosidase_alpha|_acid|_transcript_variant_1|glucosidase_alpha|_acid|_transcript_variant_2;transcript_id=,NM_001079804.2|NM_000152.4|NM_001079803.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=GAA:NM_000152:exon3:c.G668A:p.R223H,GAA:NM_001079804:exon3:c.G668A:p.R223H,GAA:NM_001079803:exon4:c.G668A:p.R223H;cytoBand=17q25.3;genomicSuperDups=.;esp6500siv2_all=0.6724;esp6500siv2_ea=0.7381;esp6500siv2_all=0.6724;esp6500siv2_ea=0.7381;1000g2015aug_all=0.602436;avsnp147=rs1042395;Kaviar_AF=0.667863;Kaviar_AC=103253;Kaviar_AN=154602;ExAC_ALL=0.6760;ExAC_AFR=0.5423;ExAC_AMR=0.4590;ExAC_EAS=0.5291;ExAC_FIN=0.7654;ExAC_NFE=0.7460;ExAC_OTH=0.7170;ExAC_SAS=0.6701;CLNALLELEID=98397;CLNDN=Glycogen_storage_disease,_type_II|not_specified;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.539;SIFT_pred=T;Polyphen2_HDIV_score=0.206;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.022;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=2.27;MutationAssessor_pred=M;FATHMM_score=-2.0;FATHMM_pred=D;PROVEAN_score=-1.61;PROVEAN_pred=N;VEST3_score=0.37;CADD_raw=1.133;CADD_phred=11.39;DANN_score=0.799;fathmm-MKL_coding_score=0.219;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.910;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.696;integrated_confidence_value=0;GERP++_RS=1.76;phyloP7way_vertebrate=-0.045;phyloP20way_mammalian=0.953;phastCons7way_vertebrate=0.008;phastCons20way_mammalian=0.204;SiPhy_29way_logOdds=10.855;GDI_full_10282015=.;dpsi_max_tissue=-0.2089;dpsi_zscore=-0.704;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.6675;gnomAD_exome_AFR=0.5363;gnomAD_exome_AMR=0.4730;gnomAD_exome_ASJ=0.7785;gnomAD_exome_EAS=0.5302;gnomAD_exome_FIN=0.7560;gnomAD_exome_NFE=0.7402;gnomAD_exome_OTH=0.7061;gnomAD_exome_SAS=0.6694;gnomAD_genome_ALL=0.6676;gnomAD_genome_AFR=0.5359;gnomAD_genome_AMR=0.5036;gnomAD_genome_ASJ=0.7748;gnomAD_genome_EAS=0.5360;gnomAD_genome_FIN=0.7597;gnomAD_genome_NFE=0.7398;gnomAD_genome_OTH=0.7271;Whole_Blood=Whole_Blood::0.306233::-0.326533;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:82:0,41 1/1:105:0,105 1/1:120:0,120 1/1:124:0,124 1/1:101:0,101 1/1:115:0,115 1/1:97:0,97 1/1:112:0,112 1/1:127:0,127 1/1:115:0,115 1/1:131:0,131 1:135:0,66 1/1:106:0,106 1/1:133:0,133 1/1:178:0,178 1:142:0,69 1/1:141:0,141 1:142:0,72 1/1:124:0,124 1/1:95:0,95 1/1:143:0,143 1:186:0,88 1/1:176:0,176 . 1:152:0,85 1/1:113:0,113 1/1:99:0,99 1/1:162:0,162 1/1:158:0,158 1:189:0,95 1/1:133:0,133 1/1:69:0,69 1:126:0,56 1/1:99:0,99 1/1:112:0,112 1/1:125:0,125 1:114:0,46 1:116:0,49 . 1:164:0,62 1/1:158:0,158 1/1:91:0,91 17 78081515 188477;rs142626724 G A 200.00 . #_unique_end_positions=,57;#_unique_start_positions=,49;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0085;AF_EXAC_clinvar_20171029_hg19=,0.00694;AF_TGP_clinvar_20171029_hg19=,0.0024;ALLELEID_clinvar_20171029_hg19=,186554;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0029;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.11;CAF_dbsnp_common_v150_hg19_refseq=,0.9976|0.002396|.;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000017.10:g.78081515G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Genetics_Diagnostic_Laboratory|Children's_Hospital_of_Eastern_Ontario_(CHEO):1783091;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000152.4:c.852G>A|_NM_001079803.2:c.852G>A|_NM_001079804.2:c.852G>A;Coding_region_change_in_longest_transcript=,NM_000152.4:c.852G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0080;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,161;GENEINFO_dbsnp_common_v150_hg19_refseq=,GAA:2548;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:2548;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:2548;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:4065;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:4065;Homo_sapiens_refseq_GRCh37.p13_Genes=,GAA;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001079804.2|NM_000152.4|NM_001079803.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene34238;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna49936|rna49934|rna49935;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:606800;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:606800;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene34238;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,78081515;RS_dbsnp_common_v150_hg19_refseq=,142626724;Read_count=,111;Read_coverage=,296;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.8620071593999714;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001079804.2|NM_000152.4|NM_001079803.2;Reverse_read_coverage=,135;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0020;SF=8;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.99502|0.00497974|.;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050368000305040036100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.174;db_xref=,GeneID:2548|HGNC:HGNC:4065|MIM:606800;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001079804.2|Genbank:NM_000152.4|Genbank:NM_001079803.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,glucosidase_alpha|_acid;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GAA;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GAA;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LYAG;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,glucosidase_alpha|_acid|_transcript_variant_3|glucosidase_alpha|_acid|_transcript_variant_1|glucosidase_alpha|_acid|_transcript_variant_2;transcript_id=,NM_001079804.2|NM_000152.4|NM_001079803.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GAA:NM_000152:exon4:c.G852A:p.A284A,GAA:NM_001079804:exon4:c.G852A:p.A284A,GAA:NM_001079803:exon5:c.G852A:p.A284A;cytoBand=17q25.3;genomicSuperDups=.;esp6500siv2_all=0.0085;esp6500siv2_ea=0.0120;esp6500siv2_all=0.0085;esp6500siv2_ea=0.0120;1000g2015aug_all=0.00239617;avsnp147=rs142626724;Kaviar_AF=0.0066881;Kaviar_AC=1034;Kaviar_AN=154602;ExAC_ALL=0.0069;ExAC_AFR=0.0013;ExAC_AMR=0.0043;ExAC_EAS=0;ExAC_FIN=0.0035;ExAC_NFE=0.0107;ExAC_OTH=0.0034;ExAC_SAS=0.0027;CLNALLELEID=186554;CLNDN=Glycogen_storage_disease,_type_II|not_specified;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0806;dpsi_zscore=-0.387;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0063;gnomAD_exome_AFR=0.0014;gnomAD_exome_AMR=0.0046;gnomAD_exome_ASJ=0.0060;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0027;gnomAD_exome_NFE=0.0102;gnomAD_exome_OTH=0.0072;gnomAD_exome_SAS=0.0024;gnomAD_genome_ALL=0.0061;gnomAD_genome_AFR=0.0017;gnomAD_genome_AMR=0.0085;gnomAD_genome_ASJ=0.0210;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0027;gnomAD_genome_NFE=0.0095;gnomAD_genome_OTH=0.0091;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . 1:274:0,102 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 17 78081515 188477;rs142626724 G A 200.00 . #_unique_end_positions=,57;#_unique_start_positions=,49;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0085;AF_EXAC_clinvar_20171029_hg19=,0.00694;AF_TGP_clinvar_20171029_hg19=,0.0024;ALLELEID_clinvar_20171029_hg19=,186554;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0029;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.11;CAF_dbsnp_common_v150_hg19_refseq=,0.9976|0.002396|.;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000017.10:g.78081515G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Genetics_Diagnostic_Laboratory|Children's_Hospital_of_Eastern_Ontario_(CHEO):1783091;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000152.4:c.852G>A|_NM_001079803.2:c.852G>A|_NM_001079804.2:c.852G>A;Coding_region_change_in_longest_transcript=,NM_000152.4:c.852G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0080;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,161;GENEINFO_dbsnp_common_v150_hg19_refseq=,GAA:2548;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:2548;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:2548;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:4065;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:4065;Homo_sapiens_refseq_GRCh37.p13_Genes=,GAA;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001079804.2|NM_000152.4|NM_001079803.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene34238;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna49936|rna49934|rna49935;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:606800;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:606800;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene34238;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,78081515;RS_dbsnp_common_v150_hg19_refseq=,142626724;Read_count=,111;Read_coverage=,296;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.8620071593999714;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001079804.2|NM_000152.4|NM_001079803.2;Reverse_read_coverage=,135;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0020;SF=8;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.99502|0.00497974|.;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050368000305040036100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.174;db_xref=,GeneID:2548|HGNC:HGNC:4065|MIM:606800;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001079804.2|Genbank:NM_000152.4|Genbank:NM_001079803.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,glucosidase_alpha|_acid;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GAA;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GAA;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LYAG;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,glucosidase_alpha|_acid|_transcript_variant_3|glucosidase_alpha|_acid|_transcript_variant_1|glucosidase_alpha|_acid|_transcript_variant_2;transcript_id=,NM_001079804.2|NM_000152.4|NM_001079803.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GAA:NM_000152:exon4:c.G852A:p.A284A,GAA:NM_001079804:exon4:c.G852A:p.A284A,GAA:NM_001079803:exon5:c.G852A:p.A284A;cytoBand=17q25.3;genomicSuperDups=.;esp6500siv2_all=0.0085;esp6500siv2_ea=0.0120;esp6500siv2_all=0.0085;esp6500siv2_ea=0.0120;1000g2015aug_all=0.00239617;avsnp147=rs142626724;Kaviar_AF=0.0066881;Kaviar_AC=1034;Kaviar_AN=154602;ExAC_ALL=0.0069;ExAC_AFR=0.0013;ExAC_AMR=0.0043;ExAC_EAS=0;ExAC_FIN=0.0035;ExAC_NFE=0.0107;ExAC_OTH=0.0034;ExAC_SAS=0.0027;CLNALLELEID=186554;CLNDN=Glycogen_storage_disease,_type_II|not_specified;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0806;dpsi_zscore=-0.387;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0063;gnomAD_exome_AFR=0.0014;gnomAD_exome_AMR=0.0046;gnomAD_exome_ASJ=0.0060;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0027;gnomAD_exome_NFE=0.0102;gnomAD_exome_OTH=0.0072;gnomAD_exome_SAS=0.0024;gnomAD_genome_ALL=0.0061;gnomAD_genome_AFR=0.0017;gnomAD_genome_AMR=0.0085;gnomAD_genome_ASJ=0.0210;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0027;gnomAD_genome_NFE=0.0095;gnomAD_genome_OTH=0.0091;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . 1:274:0,102 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 17 78081655 188478;rs150343359 G A 200.00 . #_unique_end_positions=,58;#_unique_start_positions=,53;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0013;AF_EXAC_clinvar_20171029_hg19=,0.00113;AF_TGP_clinvar_20171029_hg19=,0.0004;ALLELEID_clinvar_20171029_hg19=,186555;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AN=1;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.22;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000017.10:g.78081655G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_conflicting_interpretations;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Genetics_Diagnostic_Laboratory|Children's_Hospital_of_Eastern_Ontario_(CHEO):1782893;Coding_region_change=,NM_000152.4:c.915G>A|_NM_001079803.2:c.915G>A|_NM_001079804.2:c.915G>A;Coding_region_change_in_longest_transcript=,NM_000152.4:c.915G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;Exact_match=,clinvar_20171029_hg19|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,98;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:2548;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:2548;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:4065;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:4065;Homo_sapiens_refseq_GRCh37.p13_Genes=,GAA;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001079804.2|NM_000152.4|NM_001079803.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene34238;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna49936|rna49934|rna49935;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:606800;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:606800;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene34238;QUAL=,200.0;Read_count=,124;Read_coverage=,249;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.6170489490669488;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001079804.2|NM_000152.4|NM_001079803.2;Reverse_read_coverage=,151;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;SF=7;conservation_score=,0.08;db_xref=,GeneID:2548|HGNC:HGNC:4065|MIM:606800;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001079804.2|Genbank:NM_000152.4|Genbank:NM_001079803.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,glucosidase_alpha|_acid;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GAA;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GAA;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LYAG;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,glucosidase_alpha|_acid|_transcript_variant_3|glucosidase_alpha|_acid|_transcript_variant_1|glucosidase_alpha|_acid|_transcript_variant_2;transcript_id=,NM_001079804.2|NM_000152.4|NM_001079803.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GAA:NM_000152:exon5:c.G915A:p.G305G,GAA:NM_001079804:exon5:c.G915A:p.G305G,GAA:NM_001079803:exon6:c.G915A:p.G305G;cytoBand=17q25.3;genomicSuperDups=.;esp6500siv2_all=0.0013;esp6500siv2_ea=0.0015;esp6500siv2_all=0.0013;esp6500siv2_ea=0.0015;1000g2015aug_all=0.000399361;avsnp147=rs150343359;Kaviar_AF=0.0010543;Kaviar_AC=163;Kaviar_AN=154602;ExAC_ALL=0.0011;ExAC_AFR=0.0007;ExAC_AMR=0.0008;ExAC_EAS=0;ExAC_FIN=0.0002;ExAC_NFE=0.0016;ExAC_OTH=0.0026;ExAC_SAS=0.0004;CLNALLELEID=186555;CLNDN=Glycogen_storage_disease,_type_II|not_specified;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.2573;dpsi_zscore=0.825;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0011;gnomAD_exome_AFR=0.0003;gnomAD_exome_AMR=0.0011;gnomAD_exome_ASJ=0.0001;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0018;gnomAD_exome_OTH=0.0019;gnomAD_exome_SAS=0.0005;gnomAD_genome_ALL=0.0009;gnomAD_genome_AFR=0.0006;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0016;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:DP:CLCAD2 . . . . . . . 1:211:0,113 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 17 78081661 92490;rs1800303 A T 200.00 . #_unique_end_positions=,56;#_unique_start_positions=,50;AC=6;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2716;AF_ESP_clinvar_20171029_hg19=,0.1213;AF_EXAC_clinvar_20171029_hg19=,0.08025;AF_TGP_clinvar_20171029_hg19=,0.1102;ALLELEID_clinvar_20171029_hg19=,98399;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0576;AN=6;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.34;CAF_dbsnp_common_v150_hg19_refseq=,0.8898|0.1102;CLNDISDB_clinvar_20171029_hg19=,MedGen:C0017921|OMIM:232300|Orphanet:ORPHA365|SNOMED_CT:124462004|SNOMED_CT:237967002|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Glycogen_storage_disease|_type_II|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000017.10:g.78081661A>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:21216;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000152.4:c.921A>T|_NM_001079803.2:c.921A>T|_NM_001079804.2:c.921A>T;Coding_region_change_in_longest_transcript=,NM_000152.4:c.921A>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0736;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,88;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,GAA:2548;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:2548;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:2548;Genotype=,A/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:4065;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:4065;Homo_sapiens_refseq_GRCh37.p13_Genes=,GAA;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001079804.2|NM_000152.4|NM_001079803.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene34238;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna49936|rna49934|rna49935;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:606800;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:606800;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene34238;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,78081661;RS_dbsnp_common_v150_hg19_refseq=,1800303;Read_count=,133;Read_coverage=,261;Read_direction_test_probability=,0.6286142614477574;Read_position_test_probability=,0.7894129391023544;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001079804.2|NM_000152.4|NM_001079803.2;Reverse_read_coverage=,173;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0808;SF=12,13,22,32,36,40;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.859503|0.140497;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050328000305150536000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.044;db_xref=,GeneID:2548|HGNC:HGNC:4065|MIM:606800;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001079804.2|Genbank:NM_000152.4|Genbank:NM_001079803.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,glucosidase_alpha|_acid;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GAA;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GAA;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LYAG;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,glucosidase_alpha|_acid|_transcript_variant_3|glucosidase_alpha|_acid|_transcript_variant_1|glucosidase_alpha|_acid|_transcript_variant_2;transcript_id=,NM_001079804.2|NM_000152.4|NM_001079803.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GAA:NM_000152:exon5:c.A921T:p.A307A,GAA:NM_001079804:exon5:c.A921T:p.A307A,GAA:NM_001079803:exon6:c.A921T:p.A307A;cytoBand=17q25.3;genomicSuperDups=.;esp6500siv2_all=0.1213;esp6500siv2_ea=0.0719;esp6500siv2_all=0.1213;esp6500siv2_ea=0.0719;1000g2015aug_all=0.110224;avsnp147=rs1800303;Kaviar_AF=0.0723212;Kaviar_AC=11181;Kaviar_AN=154602;ExAC_ALL=0.0802;ExAC_AFR=0.2431;ExAC_AMR=0.0502;ExAC_EAS=0.0004;ExAC_FIN=0.0664;ExAC_NFE=0.0687;ExAC_OTH=0.1089;ExAC_SAS=0.0925;CLNALLELEID=98399;CLNDN=Glycogen_storage_disease,_type_II|not_specified;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1893;dpsi_zscore=0.702;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0717;gnomAD_exome_AFR=0.2341;gnomAD_exome_AMR=0.0473;gnomAD_exome_ASJ=0.0734;gnomAD_exome_EAS=0.0006;gnomAD_exome_FIN=0.0598;gnomAD_exome_NFE=0.0656;gnomAD_exome_OTH=0.0786;gnomAD_exome_SAS=0.0885;gnomAD_genome_ALL=0.1118;gnomAD_genome_AFR=0.2357;gnomAD_genome_AMR=0.0489;gnomAD_genome_ASJ=0.0530;gnomAD_genome_EAS=0.0012;gnomAD_genome_FIN=0.0596;gnomAD_genome_NFE=0.0713;gnomAD_genome_OTH=0.0733;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . . . . 1:236:0,119 1:220:0,115 . . . . . . . . 1:273:0,126 . . . . . . . . . 1:233:0,109 . . . 1:173:0,85 . . . 1:212:0,112 . 17 78082181 . G A 200.00 . #_unique_end_positions=,69;#_unique_start_positions=,60;AC=1;AN=1;Amino_acid_change=,NP_001073272.1:p.Val350Met|_NP_001073271.1:p.Val350Met|_NP_000143.2:p.Val350Met;Amino_acid_change_in_longest_transcript=,NP_000143.2:p.Val350Met;BaseQRankSum=,0.05;Coding_region_change=,NM_000152.4:c.1048G>A|_NM_001079803.2:c.1048G>A|_NM_001079804.2:c.1048G>A;Coding_region_change_in_longest_transcript=,NM_000152.4:c.1048G>A;Forward_read_coverage=,138;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:2548;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:2548;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:4065;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:4065;Homo_sapiens_refseq_GRCh37.p13_Genes=,GAA;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001079804.2|NM_000152.4|NM_001079803.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene34238;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna49936|rna49934|rna49935;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:606800;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:606800;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene34238;QUAL=,200.0;Read_count=,139;Read_coverage=,297;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9996541215156681;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001079804.2|NM_000152.4|NM_001079803.2;Reverse_read_coverage=,159;SF=17;conservation_score=,1.0;db_xref=,GeneID:2548|HGNC:HGNC:4065|MIM:606800;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001079804.2|Genbank:NM_000152.4|Genbank:NM_001079803.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,glucosidase_alpha|_acid;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GAA;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GAA;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LYAG;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,glucosidase_alpha|_acid|_transcript_variant_3|glucosidase_alpha|_acid|_transcript_variant_1|glucosidase_alpha|_acid|_transcript_variant_2;transcript_id=,NM_001079804.2|NM_000152.4|NM_001079803.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=GAA:NM_000152:exon6:c.G1048A:p.V350M,GAA:NM_001079804:exon6:c.G1048A:p.V350M,GAA:NM_001079803:exon7:c.G1048A:p.V350M;cytoBand=17q25.3;genomicSuperDups=.;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=.;avsnp147=rs200412003;Kaviar_AF=6.47e-05;Kaviar_AC=10;Kaviar_AN=154602;ExAC_ALL=5.806e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0.0003;ExAC_NFE=7.565e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=1.0;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=4.385;MutationAssessor_pred=H;FATHMM_score=-3.2;FATHMM_pred=D;PROVEAN_score=-2.98;PROVEAN_pred=D;VEST3_score=0.774;CADD_raw=5.968;CADD_phred=27.7;DANN_score=0.999;fathmm-MKL_coding_score=0.987;fathmm-MKL_coding_pred=D;MetaSVM_score=1.109;MetaSVM_pred=D;MetaLR_score=0.944;MetaLR_pred=D;integrated_fitCons_score=0.706;integrated_confidence_value=0;GERP++_RS=5.05;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.988;phastCons20way_mammalian=0.991;SiPhy_29way_logOdds=18.381;GDI_full_10282015=.;dpsi_max_tissue=0.1060;dpsi_zscore=0.501;hgmdCODING=HGMD::Glycogen_storage_disease_2#23430949;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM128389#"Glycogen_storage_disease_2";gnomAD_exome_ALL=0.0001;gnomAD_exome_AFR=6.554e-05;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0005;gnomAD_exome_NFE=0.0001;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0002;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0004;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=10 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . 1:275:0,128 . . . . . . . . . . . . . . . . . . . . . . . . 17 78082504 92461;rs1800304 G A 190.52 . #_unique_end_positions=,42;#_unique_start_positions=,41;AC=69;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5166;ALLELEID_clinvar_20171029_hg19=,98370;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5418;AN=69;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-1.12;CAF_dbsnp_common_v150_hg19_refseq=,0.3972|0.6028;CLNDISDB_clinvar_20171029_hg19=,MedGen:C0017921|OMIM:232300|Orphanet:ORPHA365|SNOMED_CT:124462004|SNOMED_CT:237967002|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Glycogen_storage_disease|_type_II|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000017.10:g.78082504G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:21228;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000152.4:c.1203G>A|_NM_001079803.2:c.1203G>A|_NM_001079804.2:c.1203G>A;Coding_region_change_in_longest_transcript=,NM_000152.4:c.1203G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5427;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7515;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,64;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,GAA:2548;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:2548;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:2548;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:4065;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:4065;Homo_sapiens_refseq_GRCh37.p13_Genes=,GAA;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001079804.2|NM_000152.4|NM_001079803.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene34238;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna49936|rna49934|rna49935;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:606800;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:606800;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene34238;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,78082504;RS_dbsnp_common_v150_hg19_refseq=,1800304;Read_count=,69;Read_coverage=,146;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9858006562142967;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001079804.2|NM_000152.4|NM_001079803.2;Reverse_read_coverage=,82;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6718;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,24,25,26,27,28,29,30,31,32,33,34,35,36,37,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.373824|0.626176;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050328000305170536000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.995;db_xref=,GeneID:2548|HGNC:HGNC:4065|MIM:606800;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001079804.2|Genbank:NM_000152.4|Genbank:NM_001079803.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,glucosidase_alpha|_acid;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GAA;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GAA;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LYAG;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,glucosidase_alpha|_acid|_transcript_variant_3|glucosidase_alpha|_acid|_transcript_variant_1|glucosidase_alpha|_acid|_transcript_variant_2;transcript_id=,NM_001079804.2|NM_000152.4|NM_001079803.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GAA:NM_000152:exon8:c.G1203A:p.Q401Q,GAA:NM_001079804:exon8:c.G1203A:p.Q401Q,GAA:NM_001079803:exon9:c.G1203A:p.Q401Q;cytoBand=17q25.3;genomicSuperDups=.;esp6500siv2_all=0.6708;esp6500siv2_ea=0.7380;esp6500siv2_all=0.6708;esp6500siv2_ea=0.7380;1000g2015aug_all=0.602835;avsnp147=rs1800304;Kaviar_AF=0.668859;Kaviar_AC=103407;Kaviar_AN=154602;ExAC_ALL=0.6784;ExAC_AFR=0.5436;ExAC_AMR=0.4620;ExAC_EAS=0.5320;ExAC_FIN=0.7669;ExAC_NFE=0.7474;ExAC_OTH=0.7209;ExAC_SAS=0.6766;CLNALLELEID=98370;CLNDN=Glycogen_storage_disease,_type_II|not_specified;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.2169;dpsi_zscore=0.755;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.6705;gnomAD_exome_AFR=0.5285;gnomAD_exome_AMR=0.4726;gnomAD_exome_ASJ=0.7785;gnomAD_exome_EAS=0.5311;gnomAD_exome_FIN=0.7664;gnomAD_exome_NFE=0.7401;gnomAD_exome_OTH=0.7058;gnomAD_exome_SAS=0.6747;gnomAD_genome_ALL=0.6654;gnomAD_genome_AFR=0.5298;gnomAD_genome_AMR=0.5048;gnomAD_genome_ASJ=0.7748;gnomAD_genome_EAS=0.5362;gnomAD_genome_FIN=0.7605;gnomAD_genome_NFE=0.7392;gnomAD_genome_OTH=0.7253;Whole_Blood=Whole_Blood::0.306233::-0.329714;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:128:0,61 1/1:238:0,238 1/1:265:0,265 1/1:244:0,244 1/1:159:0,159 1/1:236:0,236 1/1:172:0,172 1/1:218:0,218 1/1:287:0,287 1/1:210:0,210 1/1:311:0,310 1:251:0,125 1/1:254:0,254 1/1:245:0,245 1/1:337:0,336 1:313:0,166 1/1:229:0,229 1:329:0,167 1/1:207:0,207 1/1:216:0,216 1/1:214:0,214 1:232:0,112 1/1:348:0,348 . 1:321:0,148 1/1:234:0,234 1/1:235:0,235 1/1:355:0,354 1/1:327:0,327 1:317:0,153 1/1:239:0,239 1/1:134:0,134 1:207:0,109 1/1:208:0,208 1/1:226:0,226 1/1:252:0,252 1:230:0,98 1:220:0,108 . 1:275:0,132 1/1:249:0,249 1/1:204:0,204 17 78083791 92463;rs1800305 C T 191.96 . #_unique_end_positions=,25;#_unique_start_positions=,26;AC=6;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2284;AF_ESP_clinvar_20171029_hg19=,0.1095;AF_EXAC_clinvar_20171029_hg19=,0.07297;AF_TGP_clinvar_20171029_hg19=,0.0982;ALLELEID_clinvar_20171029_hg19=,98372;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0533;AN=6;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.9018|0.09824;CLNDISDB_clinvar_20171029_hg19=,MedGen:C0017921|OMIM:232300|Orphanet:ORPHA365|SNOMED_CT:124462004|SNOMED_CT:237967002|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Glycogen_storage_disease|_type_II|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000017.10:g.78083791C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:21239;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000152.4:c.1374C>T|_NM_001079803.2:c.1374C>T|_NM_001079804.2:c.1374C>T;Coding_region_change_in_longest_transcript=,NM_000152.4:c.1374C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0736;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,67;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,GAA:2548;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:2548;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:2548;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:4065;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:4065;Homo_sapiens_refseq_GRCh37.p13_Genes=,GAA;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001079804.2|NM_000152.4|NM_001079803.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene34238;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna49936|rna49934|rna49935;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:606800;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:606800;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene34238;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,78083791;RS_dbsnp_common_v150_hg19_refseq=,1800305;Read_count=,36;Read_coverage=,97;Read_direction_test_probability=,0.996237255660857;Read_position_test_probability=,0.5793950964455261;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001079804.2|NM_000152.4|NM_001079803.2;Reverse_read_coverage=,30;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0808;SF=12,13,22,32,36,40;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.878391|0.121609;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050328000305150536000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.55;db_xref=,GeneID:2548|HGNC:HGNC:4065|MIM:606800;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001079804.2|Genbank:NM_000152.4|Genbank:NM_001079803.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,glucosidase_alpha|_acid;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GAA;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GAA;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LYAG;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,glucosidase_alpha|_acid|_transcript_variant_3|glucosidase_alpha|_acid|_transcript_variant_1|glucosidase_alpha|_acid|_transcript_variant_2;transcript_id=,NM_001079804.2|NM_000152.4|NM_001079803.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GAA:NM_000152:exon9:c.C1374T:p.Y458Y,GAA:NM_001079804:exon9:c.C1374T:p.Y458Y,GAA:NM_001079803:exon10:c.C1374T:p.Y458Y;cytoBand=17q25.3;genomicSuperDups=.;esp6500siv2_all=0.1095;esp6500siv2_ea=0.0715;esp6500siv2_all=0.1095;esp6500siv2_ea=0.0715;1000g2015aug_all=0.0982428;avsnp147=rs1800305;Kaviar_AF=0.0713251;Kaviar_AC=11027;Kaviar_AN=154602;ExAC_ALL=0.0730;ExAC_AFR=0.1953;ExAC_AMR=0.0438;ExAC_EAS=0.0006;ExAC_FIN=0.0583;ExAC_NFE=0.0658;ExAC_OTH=0.0968;ExAC_SAS=0.0895;CLNALLELEID=98372;CLNDN=Glycogen_storage_disease,_type_II|not_specified;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.4471;dpsi_zscore=1.756;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0692;gnomAD_exome_AFR=0.1954;gnomAD_exome_AMR=0.0447;gnomAD_exome_ASJ=0.0730;gnomAD_exome_EAS=0.0010;gnomAD_exome_FIN=0.0600;gnomAD_exome_NFE=0.0657;gnomAD_exome_OTH=0.0765;gnomAD_exome_SAS=0.0885;gnomAD_genome_ALL=0.0993;gnomAD_genome_AFR=0.1914;gnomAD_genome_AMR=0.0465;gnomAD_genome_ASJ=0.0530;gnomAD_genome_EAS=0.0025;gnomAD_genome_FIN=0.0595;gnomAD_genome_NFE=0.0712;gnomAD_genome_OTH=0.0724;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . . . . 1:89:0,33 1:79:0,36 . . . . . . . . 1:107:0,47 . . . . . . . . . 1:60:0,24 . . . 1:61:0,29 . . . 1:77:0,35 . 17 78084769 92466;rs1042396 G A 200.00 . #_unique_end_positions=,87;#_unique_start_positions=,69;AC=26;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0340;AF_ESP_clinvar_20171029_hg19=,0.2094;AF_EXAC_clinvar_20171029_hg19=,0.23091;AF_TGP_clinvar_20171029_hg19=,0.1595;ALLELEID_clinvar_20171029_hg19=,98375;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2579;AN=26;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.16;CAF_dbsnp_common_v150_hg19_refseq=,0.8405|0.1595;CLNDISDB_clinvar_20171029_hg19=,MedGen:C0017921|OMIM:232300|Orphanet:ORPHA365|SNOMED_CT:124462004|SNOMED_CT:237967002|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Glycogen_storage_disease|_type_II|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000017.10:g.78084769G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:21247;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000152.4:c.1581G>A|_NM_001079803.2:c.1581G>A|_NM_001079804.2:c.1581G>A;Coding_region_change_in_longest_transcript=,NM_000152.4:c.1581G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1091;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2724;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,86;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,GAA:2548;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:2548;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:2548;Genotype=,A/A;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:4065;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:4065;Homo_sapiens_refseq_GRCh37.p13_Genes=,GAA;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001079804.2|NM_000152.4|NM_001079803.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene34238;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna49936|rna49934|rna49935;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:606800;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:606800;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene34238;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,78084769;RS_dbsnp_common_v150_hg19_refseq=,1042396;Read_count=,150;Read_coverage=,150;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001079804.2|NM_000152.4|NM_001079803.2;Reverse_read_coverage=,64;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1953;SF=1,3,4,5,8,9,11,12,14,16,17,19,24,25,27,30,31,33,34,35,37,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.833059|0.166941;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05032800030515053f000101;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.310345;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.133333;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.102273;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.00847458;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.617;db_xref=,GeneID:2548|HGNC:HGNC:4065|MIM:606800;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001079804.2|Genbank:NM_000152.4|Genbank:NM_001079803.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,glucosidase_alpha|_acid;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GAA;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GAA;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LYAG;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,glucosidase_alpha|_acid|_transcript_variant_3|glucosidase_alpha|_acid|_transcript_variant_1|glucosidase_alpha|_acid|_transcript_variant_2;transcript_id=,NM_001079804.2|NM_000152.4|NM_001079803.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GAA:NM_000152:exon11:c.G1581A:p.R527R,GAA:NM_001079804:exon11:c.G1581A:p.R527R,GAA:NM_001079803:exon12:c.G1581A:p.R527R;cytoBand=17q25.3;genomicSuperDups=.;esp6500siv2_all=0.2094;esp6500siv2_ea=0.2816;esp6500siv2_all=0.2094;esp6500siv2_ea=0.2816;1000g2015aug_all=0.159545;avsnp147=rs1042396;Kaviar_AF=0.232131;Kaviar_AC=35888;Kaviar_AN=154602;ExAC_ALL=0.2309;ExAC_AFR=0.0627;ExAC_AMR=0.2277;ExAC_EAS=0.1214;ExAC_FIN=0.2367;ExAC_NFE=0.2751;ExAC_OTH=0.2350;ExAC_SAS=0.2156;CLNALLELEID=98375;CLNDN=Glycogen_storage_disease,_type_II|not_specified;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=2.1984;dpsi_zscore=2.029;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2327;gnomAD_exome_AFR=0.0582;gnomAD_exome_AMR=0.2319;gnomAD_exome_ASJ=0.2516;gnomAD_exome_EAS=0.1196;gnomAD_exome_FIN=0.2365;gnomAD_exome_NFE=0.2765;gnomAD_exome_OTH=0.2443;gnomAD_exome_SAS=0.2138;gnomAD_genome_ALL=0.1972;gnomAD_genome_AFR=0.0630;gnomAD_genome_AMR=0.2392;gnomAD_genome_ASJ=0.2367;gnomAD_genome_EAS=0.1174;gnomAD_genome_FIN=0.2232;gnomAD_genome_NFE=0.2704;gnomAD_genome_OTH=0.2669;Whole_Blood=Whole_Blood::0.233696::-0.380891;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . 1/1:138:0,138 . 1/1:150:0,150 1:108:0,55 1:151:0,74 . . 1:223:0,104 1:146:0,74 . 1:150:0,56 1:179:0,99 . 1:227:0,113 . 1:182:0,94 1:180:0,94 . 1:150:0,67 . . . . 1:203:0,82 1:112:0,49 . 1:185:0,102 . . 1:159:0,79 1:102:0,50 . 1:138:0,58 1/1:138:0,138 1:154:0,85 . 1:115:0,55 . . 1:185:0,88 1:124:0,57 17 78084781 rs138732016 C T 200.00 . #_unique_end_positions=,64;#_unique_start_positions=,53;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0014;AN=1;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.04;Coding_region_change=,NM_000152.4:c.1593C>T|_NM_001079803.2:c.1593C>T|_NM_001079804.2:c.1593C>T;Coding_region_change_in_longest_transcript=,NM_000152.4:c.1593C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;Exact_match=,1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,115;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:2548;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:2548;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:4065;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:4065;Homo_sapiens_refseq_GRCh37.p13_Genes=,GAA;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001079804.2|NM_000152.4|NM_001079803.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene34238;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna49936|rna49934|rna49935;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:606800;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:606800;Non-synonymous=,No;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene34238;QUAL=,200.0;Read_count=,86;Read_coverage=,205;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.8662415114001321;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001079804.2|NM_000152.4|NM_001079803.2;Reverse_read_coverage=,90;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=27;conservation_score=,0.003;db_xref=,GeneID:2548|HGNC:HGNC:4065|MIM:606800;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001079804.2|Genbank:NM_000152.4|Genbank:NM_001079803.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,glucosidase_alpha|_acid;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GAA;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GAA;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LYAG;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,glucosidase_alpha|_acid|_transcript_variant_3|glucosidase_alpha|_acid|_transcript_variant_1|glucosidase_alpha|_acid|_transcript_variant_2;transcript_id=,NM_001079804.2|NM_000152.4|NM_001079803.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GAA:NM_000152:exon11:c.C1593T:p.D531D,GAA:NM_001079804:exon11:c.C1593T:p.D531D,GAA:NM_001079803:exon12:c.C1593T:p.D531D;cytoBand=17q25.3;genomicSuperDups=.;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0001;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0001;1000g2015aug_all=0.000199681;avsnp147=rs138732016;Kaviar_AF=8.41e-05;Kaviar_AC=13;Kaviar_AN=154602;ExAC_ALL=8.28e-05;ExAC_AFR=0;ExAC_AMR=8.67e-05;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0001;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=489991;CLNDN=Glycogen_storage_disease,_type_II|not_specified;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.7181;dpsi_zscore=-1.804;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0001;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0001;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=5.798e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0002;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=0;gnomAD_genome_ALL=3.232e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.68e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:186:0,77 . . . . . . . . . . . . . . 17 78087041 4030;rs1800309 G A 200.00 . #_unique_end_positions=,73;#_unique_start_positions=,74;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0091;AF_ESP_clinvar_20171029_hg19=,0.0296;AF_EXAC_clinvar_20171029_hg19=,0.08797;AF_TGP_clinvar_20171029_hg19=,0.0781;ALLELEID_clinvar_20171029_hg19=,19069;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0346;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_000143.2:p.Glu689Lys|_NP_001073271.1:p.Glu689Lys|_NP_001073272.1:p.Glu689Lys;Amino_acid_change_in_longest_transcript=,NP_000143.2:p.Glu689Lys;BaseQRankSum=,0.57;CAF_dbsnp_common_v150_hg19_refseq=,0.9219|0.07808;CLNDISDB_clinvar_20171029_hg19=,.|MedGen:C0017921|OMIM:232300|Orphanet:ORPHA365|SNOMED_CT:124462004|SNOMED_CT:237967002|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Acid_alpha-glucosidase|_allele_4|Glycogen_storage_disease|_type_II|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000017.10:g.78087041G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_conflicting_interpretations;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Genetics_Diagnostic_Laboratory|Children's_Hospital_of_Eastern_Ontario_(CHEO):1783071|HGMD:CM088196|Illumina_Clinical_Services_Laboratory|Illumina:69291|OMIM_Allelic_Variant:606800.0011|UniProtKB_(protein):P10253#VAR_004309;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000152.4:c.2065G>A|_NM_001079803.2:c.2065G>A|_NM_001079804.2:c.2065G>A;Coding_region_change_in_longest_transcript=,NM_000152.4:c.2065G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2401;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0378;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,95;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,GAA:2548;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:2548;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:2548;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:4065;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:4065;Homo_sapiens_refseq_GRCh37.p13_Genes=,GAA;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001079804.2|NM_000152.4|NM_001079803.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene34238;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna49936|rna49934|rna49935;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:606800;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:606800;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;OM_dbsnp_common_v150_hg19_refseq=,OM;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene34238;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,78087041;RS_dbsnp_common_v150_hg19_refseq=,1800309;Read_count=,126;Read_coverage=,247;Read_direction_test_probability=,0.9824237987326906;Read_position_test_probability=,0.96806397860308;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001079804.2|NM_000152.4|NM_001079803.2;Reverse_read_coverage=,152;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0767;SF=30;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.967271|0.0327289;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050368000a05150537110101;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.025;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.304878;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.0705882;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.384615;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.306818;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.666;db_xref=,GeneID:2548|HGNC:HGNC:4065|MIM:606800;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001079804.2|Genbank:NM_000152.4|Genbank:NM_001079803.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,glucosidase_alpha|_acid;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GAA;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GAA;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LYAG;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,glucosidase_alpha|_acid|_transcript_variant_3|glucosidase_alpha|_acid|_transcript_variant_1|glucosidase_alpha|_acid|_transcript_variant_2;transcript_id=,NM_001079804.2|NM_000152.4|NM_001079803.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=GAA:NM_000152:exon15:c.G2065A:p.E689K,GAA:NM_001079804:exon15:c.G2065A:p.E689K,GAA:NM_001079803:exon16:c.G2065A:p.E689K;cytoBand=17q25.3;genomicSuperDups=.;esp6500siv2_all=0.0296;esp6500siv2_ea=0.0348;esp6500siv2_all=0.0296;esp6500siv2_ea=0.0348;1000g2015aug_all=0.0780751;avsnp147=rs1800309;Kaviar_AF=0.0494172;Kaviar_AC=7640;Kaviar_AN=154602;ExAC_ALL=0.0880;ExAC_AFR=0.0302;ExAC_AMR=0.0456;ExAC_EAS=0.3103;ExAC_FIN=0.1277;ExAC_NFE=0.0675;ExAC_OTH=0.0842;ExAC_SAS=0.0807;CLNALLELEID=19069;CLNDN=Acid_alpha-glucosidase,_allele_4|Glycogen_storage_disease,_type_II|not_specified;CLNDISDB=.|MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity,_other;SIFT_score=0.35;SIFT_pred=T;Polyphen2_HDIV_score=0.092;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.072;Polyphen2_HVAR_pred=B;LRT_score=0.015;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=1.685;MutationAssessor_pred=L;FATHMM_score=-3.23;FATHMM_pred=D;PROVEAN_score=-1.16;PROVEAN_pred=N;VEST3_score=0.094;CADD_raw=2.321;CADD_phred=18.31;DANN_score=0.933;fathmm-MKL_coding_score=0.520;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.054;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.731;integrated_confidence_value=0;GERP++_RS=1.49;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.072;phastCons7way_vertebrate=0.921;phastCons20way_mammalian=0.911;SiPhy_29way_logOdds=6.571;GDI_full_10282015=.;dpsi_max_tissue=0.0894;dpsi_zscore=0.450;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM088196#"Reduced_activity";gnomAD_exome_ALL=0.0551;gnomAD_exome_AFR=0.0195;gnomAD_exome_AMR=0.0254;gnomAD_exome_ASJ=0.0410;gnomAD_exome_EAS=0.2357;gnomAD_exome_FIN=0.0625;gnomAD_exome_NFE=0.0385;gnomAD_exome_OTH=0.0554;gnomAD_exome_SAS=0.0622;gnomAD_genome_ALL=0.0532;gnomAD_genome_AFR=0.0206;gnomAD_genome_AMR=0.0215;gnomAD_genome_ASJ=0.0497;gnomAD_genome_EAS=0.2429;gnomAD_genome_FIN=0.0767;gnomAD_genome_NFE=0.0470;gnomAD_genome_OTH=0.0684;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:240:0,121 . . . . . . . . . . . 17 78087109 92473;rs1800310 A G 200.00 . #_unique_end_positions=,24;#_unique_start_positions=,25;AC=28;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0877;AF_ESP_clinvar_20171029_hg19=,0.2255;AF_EXAC_clinvar_20171029_hg19=,0.34229;AF_TGP_clinvar_20171029_hg19=,0.2416;ALLELEID_clinvar_20171029_hg19=,98382;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1643;AN=28;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.37;CAF_dbsnp_common_v150_hg19_refseq=,0.7584|0.2416;CLNDISDB_clinvar_20171029_hg19=,MedGen:C0017921|OMIM:232300|Orphanet:ORPHA365|SNOMED_CT:124462004|SNOMED_CT:237967002|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Glycogen_storage_disease|_type_II|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000017.10:g.78087109A>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:62643;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000152.4:c.2133A>G|_NM_001079803.2:c.2133A>G|_NM_001079804.2:c.2133A>G;Coding_region_change_in_longest_transcript=,NM_000152.4:c.2133A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3819;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3052;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,42;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,GAA:2548;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:2548;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:2548;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:4065;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:4065;Homo_sapiens_refseq_GRCh37.p13_Genes=,GAA;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001079804.2|NM_000152.4|NM_001079803.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene34238;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna49936|rna49934|rna49935;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:606800;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:606800;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene34238;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,78087109;RS_dbsnp_common_v150_hg19_refseq=,1800310;Read_count=,45;Read_coverage=,94;Read_direction_test_probability=,0.9943135384654203;Read_position_test_probability=,0.8724629593039993;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001079804.2|NM_000152.4|NM_001079803.2;Reverse_read_coverage=,52;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2945;SF=0,2,6,7,8,9,10,13,14,15,16,18,19,20,21,22,25,26,27,28,30,31,33,39,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.796792|0.203208;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05032800030517053e000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.91;db_xref=,GeneID:2548|HGNC:HGNC:4065|MIM:606800;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001079804.2|Genbank:NM_000152.4|Genbank:NM_001079803.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,glucosidase_alpha|_acid;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GAA;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GAA;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LYAG;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,glucosidase_alpha|_acid|_transcript_variant_3|glucosidase_alpha|_acid|_transcript_variant_1|glucosidase_alpha|_acid|_transcript_variant_2;transcript_id=,NM_001079804.2|NM_000152.4|NM_001079803.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GAA:NM_000152:exon15:c.A2133G:p.T711T,GAA:NM_001079804:exon15:c.A2133G:p.T711T,GAA:NM_001079803:exon16:c.A2133G:p.T711T;cytoBand=17q25.3;genomicSuperDups=.;esp6500siv2_all=0.2255;esp6500siv2_ea=0.2793;esp6500siv2_all=0.2255;esp6500siv2_ea=0.2793;1000g2015aug_all=0.241613;avsnp147=rs1800310;Kaviar_AF=0.244932;Kaviar_AC=37867;Kaviar_AN=154602;ExAC_ALL=0.3423;ExAC_AFR=0.1521;ExAC_AMR=0.2329;ExAC_EAS=0.4253;ExAC_FIN=0.4765;ExAC_NFE=0.3708;ExAC_OTH=0.3548;ExAC_SAS=0.3212;CLNALLELEID=98382;CLNDN=Glycogen_storage_disease,_type_II|not_specified;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.3485;dpsi_zscore=0.957;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2710;gnomAD_exome_AFR=0.1089;gnomAD_exome_AMR=0.1537;gnomAD_exome_ASJ=0.3451;gnomAD_exome_EAS=0.3613;gnomAD_exome_FIN=0.3546;gnomAD_exome_NFE=0.2879;gnomAD_exome_OTH=0.2933;gnomAD_exome_SAS=0.2833;gnomAD_genome_ALL=0.2537;gnomAD_genome_AFR=0.1149;gnomAD_genome_AMR=0.1659;gnomAD_genome_ASJ=0.3609;gnomAD_genome_EAS=0.3680;gnomAD_genome_FIN=0.3702;gnomAD_genome_NFE=0.2959;gnomAD_genome_OTH=0.2825;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:80:0,38 . 1/1:121:0,121 . . . 1:95:0,51 1:148:0,67 1:132:0,60 1:142:0,78 1/1:180:0,180 . . 1:132:0,77 1:241:0,109 1:167:0,93 1:177:0,74 . 1:106:0,50 1:113:0,58 1/1:117:0,117 1:158:0,87 1:210:0,110 . . 1:129:0,77 1:123:0,62 1:202:0,101 1:213:0,114 . 1:149:0,66 1:91:0,42 . 1:104:0,52 . . . . . 1:168:0,78 . 1:135:0,72 17 78091405 92476;rs1126690 G A 192.85 . #_unique_end_positions=,27;#_unique_start_positions=,24;AC=69;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7156;ALLELEID_clinvar_20171029_hg19=,98385;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5519;AN=69;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001073272.1:p.Val780Ile|_NP_000143.2:p.Val780Ile|_NP_001073271.1:p.Val780Ile;Amino_acid_change_in_longest_transcript=,NP_000143.2:p.Val780Ile;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.2881|0.7119|.;CLNDISDB_clinvar_20171029_hg19=,MedGen:C0017921|OMIM:232300|Orphanet:ORPHA365|SNOMED_CT:124462004|SNOMED_CT:237967002|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Glycogen_storage_disease|_type_II|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000017.10:g.78091405G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:21242|UniProtKB_(protein):P10253#VAR_004313;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000152.4:c.2338G>A|_NM_001079803.2:c.2338G>A|_NM_001079804.2:c.2338G>A;Coding_region_change_in_longest_transcript=,NM_000152.4:c.2338G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6498;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7624;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,60;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,GAA:2548;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:2548;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:2548;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:4065;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:4065;Homo_sapiens_refseq_GRCh37.p13_Genes=,GAA;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001079804.2|NM_000152.4|NM_001079803.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene34238;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna49936|rna49934|rna49935;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:606800;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:606800;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene34238;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,78091405;RS_dbsnp_common_v150_hg19_refseq=,1126690;Read_count=,42;Read_coverage=,106;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.869391331888833;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001079804.2|NM_000152.4|NM_001079803.2;Reverse_read_coverage=,46;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.8323;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,24,25,26,27,28,29,30,31,32,33,34,35,36,37,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.29432|0.70568|.;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050328000a0515053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.791667;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.6;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.772727;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.7;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.008;db_xref=,GeneID:2548|HGNC:HGNC:4065|MIM:606800;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001079804.2|Genbank:NM_000152.4|Genbank:NM_001079803.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,glucosidase_alpha|_acid;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GAA;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GAA;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LYAG;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,glucosidase_alpha|_acid|_transcript_variant_3|glucosidase_alpha|_acid|_transcript_variant_1|glucosidase_alpha|_acid|_transcript_variant_2;transcript_id=,NM_001079804.2|NM_000152.4|NM_001079803.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=GAA:NM_000152:exon17:c.G2338A:p.V780I,GAA:NM_001079804:exon17:c.G2338A:p.V780I,GAA:NM_001079803:exon18:c.G2338A:p.V780I;cytoBand=17q25.3;genomicSuperDups=.;esp6500siv2_all=0.7332;esp6500siv2_ea=0.7499;esp6500siv2_all=0.7332;esp6500siv2_ea=0.7499;1000g2015aug_all=0.711861;avsnp147=rs1126690;Kaviar_AF=0.720676;Kaviar_AC=111418;Kaviar_AN=154602;ExAC_ALL=0.7296;ExAC_AFR=0.7010;ExAC_AMR=0.4712;ExAC_EAS=0.6212;ExAC_FIN=0.7962;ExAC_NFE=0.7645;ExAC_OTH=0.7617;ExAC_SAS=0.8168;CLNALLELEID=98385;CLNDN=Glycogen_storage_disease,_type_II|not_specified;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.593;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.003;Polyphen2_HVAR_pred=B;LRT_score=0.508;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.55;MutationAssessor_pred=N;FATHMM_score=-2.58;FATHMM_pred=D;PROVEAN_score=0.01;PROVEAN_pred=N;VEST3_score=0.058;CADD_raw=-0.394;CADD_phred=0.400;DANN_score=0.651;fathmm-MKL_coding_score=0.026;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.975;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.706;integrated_confidence_value=0;GERP++_RS=-2.09;phyloP7way_vertebrate=-1.016;phyloP20way_mammalian=-0.437;phastCons7way_vertebrate=0.004;phastCons20way_mammalian=0.213;SiPhy_29way_logOdds=5.965;GDI_full_10282015=.;dpsi_max_tissue=1.8261;dpsi_zscore=1.911;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.7182;gnomAD_exome_AFR=0.6946;gnomAD_exome_AMR=0.4860;gnomAD_exome_ASJ=0.7993;gnomAD_exome_EAS=0.6209;gnomAD_exome_FIN=0.7983;gnomAD_exome_NFE=0.7566;gnomAD_exome_OTH=0.7403;gnomAD_exome_SAS=0.8130;gnomAD_genome_ALL=0.7265;gnomAD_genome_AFR=0.6930;gnomAD_genome_AMR=0.5144;gnomAD_genome_ASJ=0.7867;gnomAD_genome_EAS=0.6057;gnomAD_genome_FIN=0.7902;gnomAD_genome_NFE=0.7527;gnomAD_genome_OTH=0.7582;Whole_Blood=Whole_Blood::0.280488::-0.318547;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:92:0,38 1/1:105:0,105 1/1:89:0,89 1/1:135:0,135 1/1:119:0,119 1/1:148:0,148 1/1:91:0,91 1/1:123:0,123 1/1:127:0,127 1/1:107:0,107 1/1:124:0,124 1:166:0,90 1/1:141:0,141 1/1:132:0,132 1/1:183:0,183 1:136:0,51 1/1:159:0,159 1:153:0,73 1/1:124:0,124 1/1:126:0,126 1/1:108:0,108 1:128:0,67 1/1:161:0,161 . 1:177:0,73 1/1:134:0,134 1/1:130:0,130 1/1:169:0,169 1/1:152:0,152 1:149:0,69 1/1:129:0,129 1/1:64:0,64 1:113:0,54 1/1:80:0,80 1/1:147:0,147 1/1:93:0,93 1:102:0,39 1:109:0,50 . 1:129:0,59 1/1:142:0,142 1/1:105:0,105 17 78092019 . C T 200.00 . #_unique_end_positions=,78;#_unique_start_positions=,64;AC=1;AN=1;Amino_acid_change=,NP_000143.2:p.Arg837Cys|_NP_001073272.1:p.Arg837Cys|_NP_001073271.1:p.Arg837Cys;Amino_acid_change_in_longest_transcript=,NP_000143.2:p.Arg837Cys;BaseQRankSum=,-0.42;Coding_region_change=,NM_000152.4:c.2509C>T|_NM_001079803.2:c.2509C>T|_NM_001079804.2:c.2509C>T;Coding_region_change_in_longest_transcript=,NM_000152.4:c.2509C>T;Forward_read_coverage=,199;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:2548;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:2548;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:4065;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:4065;Homo_sapiens_refseq_GRCh37.p13_Genes=,GAA;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001079804.2|NM_000152.4|NM_001079803.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene34238;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna49936|rna49934|rna49935;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:606800;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:606800;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene34238;QUAL=,200.0;Read_count=,147;Read_coverage=,305;Read_direction_test_probability=,0.9725636764012628;Read_position_test_probability=,0.9708762563649174;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001079804.2|NM_000152.4|NM_001079803.2;Reverse_read_coverage=,106;SF=29;conservation_score=,1.0;db_xref=,GeneID:2548|HGNC:HGNC:4065|MIM:606800;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001079804.2|Genbank:NM_000152.4|Genbank:NM_001079803.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,glucosidase_alpha|_acid;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GAA;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GAA;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LYAG;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,glucosidase_alpha|_acid|_transcript_variant_3|glucosidase_alpha|_acid|_transcript_variant_1|glucosidase_alpha|_acid|_transcript_variant_2;transcript_id=,NM_001079804.2|NM_000152.4|NM_001079803.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=GAA:NM_000152:exon18:c.C2509T:p.R837C,GAA:NM_001079804:exon18:c.C2509T:p.R837C,GAA:NM_001079803:exon19:c.C2509T:p.R837C;cytoBand=17q25.3;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs752421149;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;ExAC_ALL=2.513e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=4.577e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=469330;CLNDN=Glycogen_storage_disease,_type_II;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.988;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=3.845;MutationAssessor_pred=H;FATHMM_score=-2.97;FATHMM_pred=D;PROVEAN_score=-6.43;PROVEAN_pred=D;VEST3_score=0.888;CADD_raw=7.757;CADD_phred=35;DANN_score=0.999;fathmm-MKL_coding_score=0.986;fathmm-MKL_coding_pred=D;MetaSVM_score=1.073;MetaSVM_pred=D;MetaLR_score=0.923;MetaLR_pred=D;integrated_fitCons_score=0.696;integrated_confidence_value=0;GERP++_RS=5.51;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.932;phastCons7way_vertebrate=0.980;phastCons20way_mammalian=0.993;SiPhy_29way_logOdds=18.983;GDI_full_10282015=.;dpsi_max_tissue=0.3511;dpsi_zscore=0.960;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=2.037e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=4.495e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=6.474e-05;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.687e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=10 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:273:0,137 . . . . . . . . . . . . 17 78092063 92481;rs1042397 G A 191.49 . #_unique_end_positions=,32;#_unique_start_positions=,31;AC=66;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5439;ALLELEID_clinvar_20171029_hg19=,98390;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4942;AN=66;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.4;CAF_dbsnp_common_v150_hg19_refseq=,0.4906|0.5094|.;CLNDISDB_clinvar_20171029_hg19=,MedGen:C0017921|OMIM:232300|Orphanet:ORPHA365|SNOMED_CT:124462004|SNOMED_CT:237967002|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Glycogen_storage_disease|_type_II|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000017.10:g.78092063G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:21257;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000152.4:c.2553G>A|_NM_001079803.2:c.2553G>A|_NM_001079804.2:c.2553G>A;Coding_region_change_in_longest_transcript=,NM_000152.4:c.2553G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2887;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6630;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,44;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,GAA:2548;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:2548;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:2548;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:4065;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:4065;Homo_sapiens_refseq_GRCh37.p13_Genes=,GAA;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001079804.2|NM_000152.4|NM_001079803.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene34238;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna49936|rna49934|rna49935;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:606800;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:606800;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene34238;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,78092063;RS_dbsnp_common_v150_hg19_refseq=,1042397;Read_count=,46;Read_coverage=,96;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.997937849123737;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001079804.2|NM_000152.4|NM_001079803.2;Reverse_read_coverage=,52;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5429;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,24,25,26,27,28,29,30,31,32,33,34,35,36,37,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.436397|0.563603|.;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050328000305150136000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.827;db_xref=,GeneID:2548|HGNC:HGNC:4065|MIM:606800;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001079804.2|Genbank:NM_000152.4|Genbank:NM_001079803.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,glucosidase_alpha|_acid;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GAA;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GAA;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LYAG;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,glucosidase_alpha|_acid|_transcript_variant_3|glucosidase_alpha|_acid|_transcript_variant_1|glucosidase_alpha|_acid|_transcript_variant_2;transcript_id=,NM_001079804.2|NM_000152.4|NM_001079803.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GAA:NM_000152:exon18:c.G2553A:p.G851G,GAA:NM_001079804:exon18:c.G2553A:p.G851G,GAA:NM_001079803:exon19:c.G2553A:p.G851G;cytoBand=17q25.3;genomicSuperDups=.;esp6500siv2_all=0.6048;esp6500siv2_ea=0.6427;esp6500siv2_all=0.6048;esp6500siv2_ea=0.6427;1000g2015aug_all=0.509385;avsnp147=rs1042397;Kaviar_AF=0.574527;Kaviar_AC=88823;Kaviar_AN=154602;ExAC_ALL=0.5805;ExAC_AFR=0.5401;ExAC_AMR=0.4184;ExAC_EAS=0.2798;ExAC_FIN=0.6494;ExAC_NFE=0.6465;ExAC_OTH=0.6230;ExAC_SAS=0.5826;CLNALLELEID=98390;CLNDN=Glycogen_storage_disease,_type_II|not_specified;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.4209;dpsi_zscore=1.743;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.5725;gnomAD_exome_AFR=0.5316;gnomAD_exome_AMR=0.4295;gnomAD_exome_ASJ=0.7024;gnomAD_exome_EAS=0.2786;gnomAD_exome_FIN=0.6486;gnomAD_exome_NFE=0.6386;gnomAD_exome_OTH=0.6106;gnomAD_exome_SAS=0.5727;gnomAD_genome_ALL=0.5779;gnomAD_genome_AFR=0.5344;gnomAD_genome_AMR=0.4642;gnomAD_genome_ASJ=0.6821;gnomAD_genome_EAS=0.2735;gnomAD_genome_FIN=0.6269;gnomAD_genome_NFE=0.6279;gnomAD_genome_OTH=0.5973;Whole_Blood=Whole_Blood::0.383469::-0.321299;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:80:0,38 1/1:192:0,192 1/1:176:0,176 1/1:168:0,168 1/1:143:0,143 1/1:208:0,208 1:150:0,65 1:172:0,84 1/1:200:0,199 1/1:141:0,141 1/1:206:0,206 1:213:0,106 1/1:205:0,205 1/1:217:0,217 1/1:246:0,246 1:192:0,98 1/1:220:0,220 1:188:0,88 1/1:146:0,146 1/1:182:0,182 1/1:129:0,129 1:211:0,96 1/1:277:0,277 . 1:225:0,110 1/1:160:0,160 1/1:182:0,181 1/1:237:0,237 1/1:271:0,271 1:281:0,134 1:207:0,114 1/1:96:0,96 1:188:0,87 1/1:158:0,158 1/1:176:0,176 1/1:163:0,163 1:167:0,77 1:117:0,56 . 1:230:0,112 1/1:183:0,183 1/1:143:0,143 18 3067278 226828;rs2230164 A G 193.01 . #_unique_end_positions=,49;#_unique_start_positions=,42;AC=33;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.8533;ALLELEID_clinvar_20171029_hg19=,230806;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4207;AN=33;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.28;CAF_dbsnp_common_v150_hg19_refseq=,0.4056|0.5944;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000018.9:g.3067278A>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_single_submitter;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_003803.3:c.5040T>C|_NM_019856.1:c.4752T>C;Coding_region_change_in_longest_transcript=,NM_003803.3:c.5040T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5308;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4652;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,94;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,MYOM1:8736;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:8736;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:8736;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:7613;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:7613;Homo_sapiens_refseq_GRCh37.p13_Genes=,MYOM1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_019856.1|NM_003803.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene34375;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna50210|rna50211;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:603508;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:603508;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene34375;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,3067278;RS_dbsnp_common_v150_hg19_refseq=,2230164;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,87;Read_coverage=,166;Read_direction_test_probability=,0.9737932224397807;Read_position_test_probability=,0.9920645392254756;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_019856.1|NM_003803.3;Reverse_read_coverage=,72;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5665;SF=0,2,6,8,10,11,12,13,15,16,18,19,21,22,24,27,28,29,31,33,35,36,37,39;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.391098|0.608902;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05012800030517053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.854167;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.460177;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.52439;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.5;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.568182;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.651163;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.571429;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.772222;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.397959;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.746479;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.460227;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.889908;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.0;db_xref=,GeneID:8736|HGNC:HGNC:7613|MIM:603508;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_019856.1|Genbank:NM_003803.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,myomesin_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MYOM1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MYOM1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SKELEMIN;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,myomesin_1|_transcript_variant_2|myomesin_1|_transcript_variant_1;transcript_id=,NM_019856.1|NM_003803.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYOM1:NM_019856:exon37:c.T4752C:p.G1584G,MYOM1:NM_003803:exon38:c.T5040C:p.G1680G;cytoBand=18p11.31;genomicSuperDups=.;esp6500siv2_all=0.5707;esp6500siv2_ea=0.4664;esp6500siv2_all=0.5707;esp6500siv2_ea=0.4664;1000g2015aug_all=0.594449;avsnp147=rs2230164;Kaviar_AF=0.486417;Kaviar_AC=75201;Kaviar_AN=154602;ExAC_ALL=0.5696;ExAC_AFR=0.8033;ExAC_AMR=0.4531;ExAC_EAS=0.5810;ExAC_FIN=0.6215;ExAC_NFE=0.5350;ExAC_OTH=0.5344;ExAC_SAS=0.6015;CLNALLELEID=230806;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.4985;gnomAD_exome_AFR=0.7890;gnomAD_exome_AMR=0.3486;gnomAD_exome_ASJ=0.4614;gnomAD_exome_EAS=0.5278;gnomAD_exome_FIN=0.5879;gnomAD_exome_NFE=0.4685;gnomAD_exome_OTH=0.4851;gnomAD_exome_SAS=0.5672;gnomAD_genome_ALL=0.5761;gnomAD_genome_AFR=0.7921;gnomAD_genome_AMR=0.3807;gnomAD_genome_ASJ=0.47;gnomAD_genome_EAS=0.5453;gnomAD_genome_FIN=0.5833;gnomAD_genome_NFE=0.4680;gnomAD_genome_OTH=0.5286;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:152:0,77 . 1:132:0,70 . . . 1:113:0,68 . 1/1:132:0,132 . 1:142:0,66 1/1:130:0,130 1/1:135:0,135 1:165:0,85 . 1/1:155:0,154 1:147:0,84 . 1:118:0,56 1/1:104:0,104 . 1/1:148:0,148 1:181:0,86 . 1:159:0,69 . . 1/1:163:0,163 1/1:199:0,199 1/1:153:0,153 . 1:104:0,56 . 1:120:0,60 . 1:138:0,73 1:115:0,59 1:140:0,59 . 1:145:0,77 . . 18 3075746 226825;rs1143657 G A 92.64 . #_unique_end_positions=,12;#_unique_start_positions=,11;AC=13;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1747;AF_ESP_clinvar_20171029_hg19=,0.1604;AF_EXAC_clinvar_20171029_hg19=,0.21420;AF_TGP_clinvar_20171029_hg19=,0.1835;ALLELEID_clinvar_20171029_hg19=,230812;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1830;AN=13;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.8165|0.1835;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000018.9:g.3075746G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_single_submitter;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_003803.3:c.4662C>T|_NM_019856.1:c.4374C>T;Coding_region_change_in_longest_transcript=,NM_003803.3:c.4662C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1875;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2008;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,22;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,MYOM1:8736;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:8736;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:8736;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:7613;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:7613;Homo_sapiens_refseq_GRCh37.p13_Genes=,MYOM1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_019856.1|NM_003803.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene34375;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna50210|rna50211;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:603508;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:603508;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene34375;QUAL=,94.11397898576632;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,3075746;RS_dbsnp_common_v150_hg19_refseq=,1143657;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,17;Read_coverage=,41;Read_direction_test_probability=,0.6423299879001614;Read_position_test_probability=,0.767728322446264;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_019856.1|NM_003803.3;Reverse_read_coverage=,19;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1738;SF=0,2,8,11,13,24,27,31,33,36,37,39;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.842297|0.157703;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05032800030517053e000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:8736|HGNC:HGNC:7613|MIM:603508;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_019856.1|Genbank:NM_003803.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,myomesin_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MYOM1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MYOM1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SKELEMIN;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,myomesin_1|_transcript_variant_2|myomesin_1|_transcript_variant_1;transcript_id=,NM_019856.1|NM_003803.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYOM1:NM_019856:exon34:c.C4374T:p.A1458A,MYOM1:NM_003803:exon35:c.C4662T:p.A1554A;cytoBand=18p11.31;genomicSuperDups=.;esp6500siv2_all=0.1604;esp6500siv2_ea=0.1697;esp6500siv2_all=0.1604;esp6500siv2_ea=0.1697;1000g2015aug_all=0.183506;avsnp147=rs1143657;Kaviar_AF=0.157812;Kaviar_AC=24398;Kaviar_AN=154602;ExAC_ALL=0.2142;ExAC_AFR=0.1829;ExAC_AMR=0.1915;ExAC_EAS=0.2072;ExAC_FIN=0.3389;ExAC_NFE=0.2178;ExAC_OTH=0.2314;ExAC_SAS=0.1821;CLNALLELEID=230812;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-2.5050;dpsi_zscore=-2.044;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1782;gnomAD_exome_AFR=0.1496;gnomAD_exome_AMR=0.1452;gnomAD_exome_ASJ=0.2153;gnomAD_exome_EAS=0.1601;gnomAD_exome_FIN=0.3193;gnomAD_exome_NFE=0.1666;gnomAD_exome_OTH=0.1816;gnomAD_exome_SAS=0.1607;gnomAD_genome_ALL=0.1986;gnomAD_genome_AFR=0.1507;gnomAD_genome_AMR=0.1647;gnomAD_genome_ASJ=0.2318;gnomAD_genome_EAS=0.1765;gnomAD_genome_FIN=0.3359;gnomAD_genome_NFE=0.1958;gnomAD_genome_OTH=0.2336;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:35:0,14 . 1:20:0,10 . . . . . 1:31:0,13 . . 1/1:26:0,26 . 1:33:0,13 . . . . . . . . . . 1:33:0,18 . . 1:35:0,13 . . . 1:22:0,7 . 1:32:0,15 . . 1:33:0,15 1:42:0,19 . 1:23:0,8 . . 18 3086065 226822;rs3765623 C T 64.33 . #_unique_end_positions=,8;#_unique_start_positions=,9;AC=3;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0068;AF_ESP_clinvar_20171029_hg19=,0.0543;AF_EXAC_clinvar_20171029_hg19=,0.07287;AF_TGP_clinvar_20171029_hg19=,0.0521;ALLELEID_clinvar_20171029_hg19=,230818;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0677;AN=3;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_062830.1:p.Asp1312Asn|_NP_003794.3:p.Asp1408Asn;Amino_acid_change_in_longest_transcript=,NP_003794.3:p.Asp1408Asn;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.9479|0.05212;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000018.9:g.3086065C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_single_submitter;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_003803.3:c.4222G>A|_NM_019856.1:c.3934G>A;Coding_region_change_in_longest_transcript=,NM_003803.3:c.4222G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0585;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0626;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,8;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,MYOM1:8736;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:8736;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:8736;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:7613;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:7613;Homo_sapiens_refseq_GRCh37.p13_Genes=,MYOM1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_019856.1|NM_003803.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene34375;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna50210|rna50211;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:603508;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:603508;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene34375;QUAL=,48.51930704302633;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,3086065;RS_dbsnp_common_v150_hg19_refseq=,3765623;Read_count=,9;Read_coverage=,18;Read_direction_test_probability=,0.9475972037518952;Read_position_test_probability=,0.10808903428004879;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_019856.1|NM_003803.3;Reverse_read_coverage=,10;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0849;SF=6,8,28;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.953328|0.0466722;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050328000a05150537000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.0204082;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.079646;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.0853659;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.0352941;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.0681818;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0348837;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0639535;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.03;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.00699301;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.0568182;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:8736|HGNC:HGNC:7613|MIM:603508;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_019856.1|Genbank:NM_003803.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,myomesin_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MYOM1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MYOM1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SKELEMIN;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,myomesin_1|_transcript_variant_2|myomesin_1|_transcript_variant_1;transcript_id=,NM_019856.1|NM_003803.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYOM1:NM_019856:exon29:c.G3934A:p.D1312N,MYOM1:NM_003803:exon30:c.G4222A:p.D1408N;cytoBand=18p11.31;genomicSuperDups=.;esp6500siv2_all=0.0543;esp6500siv2_ea=0.0716;esp6500siv2_all=0.0543;esp6500siv2_ea=0.0716;1000g2015aug_all=0.0521166;avsnp147=rs3765623;Kaviar_AF=0.0722306;Kaviar_AC=11167;Kaviar_AN=154602;ExAC_ALL=0.0729;ExAC_AFR=0.0134;ExAC_AMR=0.0799;ExAC_EAS=0.0470;ExAC_FIN=0.0708;ExAC_NFE=0.0783;ExAC_OTH=0.0472;ExAC_SAS=0.0973;CLNALLELEID=230818;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.145;SIFT_pred=T;Polyphen2_HDIV_score=0.982;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.809;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=1.61;MutationAssessor_pred=L;FATHMM_score=-0.28;FATHMM_pred=T;PROVEAN_score=-1.2;PROVEAN_pred=N;VEST3_score=0.101;CADD_raw=5.971;CADD_phred=27.7;DANN_score=0.999;fathmm-MKL_coding_score=0.932;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.880;MetaSVM_pred=T;MetaLR_score=0.047;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.56;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.892;phastCons7way_vertebrate=0.999;phastCons20way_mammalian=0.999;SiPhy_29way_logOdds=19.535;GDI_full_10282015=.;dpsi_max_tissue=0.0366;dpsi_zscore=0.233;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0711;gnomAD_exome_AFR=0.0121;gnomAD_exome_AMR=0.0780;gnomAD_exome_ASJ=0.0239;gnomAD_exome_EAS=0.0461;gnomAD_exome_FIN=0.0704;gnomAD_exome_NFE=0.0792;gnomAD_exome_OTH=0.0609;gnomAD_exome_SAS=0.0951;gnomAD_genome_ALL=0.0576;gnomAD_genome_AFR=0.0145;gnomAD_genome_AMR=0.0740;gnomAD_genome_ASJ=0.0265;gnomAD_genome_EAS=0.0562;gnomAD_genome_FIN=0.0659;gnomAD_genome_NFE=0.0798;gnomAD_genome_OTH=0.0692;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:DP:CLCAD2 . . . . . . 1:15:0,9 . 1:25:0,6 . . . . . . . . . . . . . . . . . . . 1:33:0,17 . . . . . . . . . . . . . 18 3126811 226815;rs1071600 A G 186.20 . #_unique_end_positions=,21;#_unique_start_positions=,22;AC=20;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3177;AF_ESP_clinvar_20171029_hg19=,0.1796;AF_EXAC_clinvar_20171029_hg19=,0.19973;AF_TGP_clinvar_20171029_hg19=,0.2544;ALLELEID_clinvar_20171029_hg19=,230838;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1988;AN=20;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_062830.1:p.Ile864Thr|_NP_003794.3:p.Ile960Thr;Amino_acid_change_in_longest_transcript=,NP_003794.3:p.Ile960Thr;BaseQRankSum=,-0.2;CAF_dbsnp_common_v150_hg19_refseq=,0.7456|0.2544;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000018.9:g.3126811A>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_single_submitter;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_003803.3:c.2879T>C|_NM_019856.1:c.2591T>C;Coding_region_change_in_longest_transcript=,NM_003803.3:c.2879T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3204;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1571;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,28;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,MYOM1:8736;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:8736;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:8736;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:7613;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:7613;Homo_sapiens_refseq_GRCh37.p13_Genes=,MYOM1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_019856.1|NM_003803.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene34375;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna50210|rna50211;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:603508;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:603508;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene34375;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,3126811;RS_dbsnp_common_v150_hg19_refseq=,1071600;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,27;Read_coverage=,65;Read_direction_test_probability=,0.9802641237596446;Read_position_test_probability=,0.9639448161635847;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_019856.1|NM_003803.3;Reverse_read_coverage=,37;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2403;SF=2,4,7,9,14,15,16,17,24,29,30,31,33,35,36,37,39,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.781716|0.218284;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128000a0517053f000101;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.255102;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.172566;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.329268;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.276471;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.193182;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.360465;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.430233;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.426966;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.18;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.369718;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.153409;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.323009;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.972;db_xref=,GeneID:8736|HGNC:HGNC:7613|MIM:603508;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_019856.1|Genbank:NM_003803.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,myomesin_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MYOM1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MYOM1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SKELEMIN;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,myomesin_1|_transcript_variant_2|myomesin_1|_transcript_variant_1;transcript_id=,NM_019856.1|NM_003803.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYOM1:NM_019856:exon18:c.T2591C:p.I864T,MYOM1:NM_003803:exon19:c.T2879C:p.I960T;cytoBand=18p11.31;genomicSuperDups=.;esp6500siv2_all=0.1796;esp6500siv2_ea=0.1415;esp6500siv2_all=0.1796;esp6500siv2_ea=0.1415;1000g2015aug_all=0.254393;avsnp147=rs1071600;Kaviar_AF=0.184202;Kaviar_AC=28478;Kaviar_AN=154602;ExAC_ALL=0.1997;ExAC_AFR=0.2747;ExAC_AMR=0.2458;ExAC_EAS=0.3306;ExAC_FIN=0.1835;ExAC_NFE=0.1523;ExAC_OTH=0.1863;ExAC_SAS=0.2538;CLNALLELEID=230838;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_pred=B;LRT_score=0.002;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.025;MutationAssessor_pred=N;FATHMM_score=0.57;FATHMM_pred=T;PROVEAN_score=1.69;PROVEAN_pred=N;VEST3_score=0.012;CADD_raw=0.079;CADD_phred=3.381;DANN_score=0.599;fathmm-MKL_coding_score=0.099;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.949;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.595;integrated_confidence_value=0;GERP++_RS=1.43;phyloP7way_vertebrate=-0.056;phyloP20way_mammalian=0.145;phastCons7way_vertebrate=0.993;phastCons20way_mammalian=0.990;SiPhy_29way_logOdds=7.397;GDI_full_10282015=.;dpsi_max_tissue=0.2504;dpsi_zscore=0.814;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1929;gnomAD_exome_AFR=0.2687;gnomAD_exome_AMR=0.2312;gnomAD_exome_ASJ=0.1560;gnomAD_exome_EAS=0.3210;gnomAD_exome_FIN=0.1811;gnomAD_exome_NFE=0.1432;gnomAD_exome_OTH=0.1946;gnomAD_exome_SAS=0.2424;gnomAD_genome_ALL=0.1926;gnomAD_genome_AFR=0.2625;gnomAD_genome_AMR=0.2243;gnomAD_genome_ASJ=0.1523;gnomAD_genome_EAS=0.3081;gnomAD_genome_FIN=0.1873;gnomAD_genome_NFE=0.1403;gnomAD_genome_OTH=0.1864;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . 1:61:0,26 . 1:43:0,23 . . 1:40:0,16 . 1:63:0,30 . . . . 1:86:0,33 1:75:0,33 1:73:0,41 1:73:0,30 . . . . . . 1:87:0,44 . . . . 1:87:0,38 1:72:0,42 1:41:0,22 . 1:49:0,25 . 1:73:0,33 1:82:0,52 1:52:0,25 . 1/1:72:0,72 . 1/1:57:0,57 18 3129297 220589;rs72860212 C T 200.00 . #_unique_end_positions=,43;#_unique_start_positions=,39;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0023;AF_TGP_clinvar_20171029_hg19=,0.0006;ALLELEID_clinvar_20171029_hg19=,222750;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0014;AN=1;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.55;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy;CLNHGVS_clinvar_20171029_hg19=,NC_000018.9:g.3129297C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_single_submitter;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;Coding_region_change=,NM_003803.3:c.2727G>A|_NM_019856.1:c.2506+2076G>A;Coding_region_change_in_longest_transcript=,NM_003803.3:c.2727G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0020;Exact_match=,clinvar_20171029_hg19|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,81;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:8736;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:8736;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:7613;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:7613;Homo_sapiens_refseq_GRCh37.p13_Genes=,MYOM1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003803.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene34375;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna50211;MC_clinvar_20171029_hg19=,SO:0001627|intron_variant|SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:603508;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:603508;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene34375;QUAL=,200.0;Read_count=,55;Read_coverage=,136;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9630382776047549;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003803.3;Reverse_read_coverage=,55;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=30;conservation_score=,0.0;db_xref=,GeneID:8736|HGNC:HGNC:7613|MIM:603508;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003803.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,myomesin_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MYOM1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MYOM1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SKELEMIN;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,myomesin_1|_transcript_variant_1;transcript_id=,NM_003803.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYOM1:NM_003803:exon18:c.G2727A:p.P909P;cytoBand=18p11.31;genomicSuperDups=.;esp6500siv2_all=0.0023;esp6500siv2_ea=0.0034;esp6500siv2_all=0.0023;esp6500siv2_ea=0.0034;1000g2015aug_all=0.000599042;avsnp147=rs72860212;Kaviar_AF=0.0003752;Kaviar_AC=58;Kaviar_AN=154602;ExAC_ALL=0.0022;ExAC_AFR=0.0001;ExAC_AMR=0.0016;ExAC_EAS=0;ExAC_FIN=0.0008;ExAC_NFE=0.0034;ExAC_OTH=0.0022;ExAC_SAS=0.0008;CLNALLELEID=222750;CLNDN=Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.3723;dpsi_zscore=-0.950;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0021;gnomAD_exome_AFR=0.0005;gnomAD_exome_AMR=0.0021;gnomAD_exome_ASJ=0.0003;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0006;gnomAD_exome_NFE=0.0036;gnomAD_exome_OTH=0.0015;gnomAD_exome_SAS=0.0007;gnomAD_genome_ALL=0.0014;gnomAD_genome_AFR=0.0005;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0023;gnomAD_genome_OTH=0.0031;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:130:0,53 . . . . . . . . . . . 18 3129368 227698 T C 200.00 . #_unique_end_positions=,43;#_unique_start_positions=,34;AC=1;AF_ESP_clinvar_20171029_hg19=,0.0008;AF_EXAC_clinvar_20171029_hg19=,0.00056;ALLELEID_clinvar_20171029_hg19=,230840;AN=1;Amino_acid_change=,NP_003794.3:p.Ser886Gly;Amino_acid_change_in_longest_transcript=,NP_003794.3:p.Ser886Gly;BaseQRankSum=,0.14;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000018.9:g.3129368T>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_conflicting_interpretations;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;Coding_region_change=,NM_003803.3:c.2656A>G|_NM_019856.1:c.2506+2005A>G;Coding_region_change_in_longest_transcript=,NM_003803.3:c.2656A>G;Exact_match=,clinvar_20171029_hg19;Forward_read_coverage=,71;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:8736;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:8736;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:7613;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:7613;Homo_sapiens_refseq_GRCh37.p13_Genes=,MYOM1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_003803.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene34375;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna50211;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant|SO:0001627|intron_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:603508;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:603508;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene34375;QUAL=,200.0;Read_count=,65;Read_coverage=,133;Read_direction_test_probability=,0.9773372251682538;Read_position_test_probability=,0.9691636800948704;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_003803.3;Reverse_read_coverage=,62;SF=6;conservation_score=,0.703;db_xref=,GeneID:8736|HGNC:HGNC:7613|MIM:603508;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_003803.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,myomesin_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MYOM1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MYOM1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SKELEMIN;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,myomesin_1|_transcript_variant_1;transcript_id=,NM_003803.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYOM1:NM_003803:exon18:c.A2656G:p.S886G;cytoBand=18p11.31;genomicSuperDups=.;esp6500siv2_all=0.0008;esp6500siv2_ea=0.0010;esp6500siv2_all=0.0008;esp6500siv2_ea=0.0010;1000g2015aug_all=.;avsnp147=rs199900004;Kaviar_AF=0.0005369;Kaviar_AC=83;Kaviar_AN=154602;ExAC_ALL=0.0006;ExAC_AFR=0;ExAC_AMR=8.639e-05;ExAC_EAS=0;ExAC_FIN=0.0005;ExAC_NFE=0.0009;ExAC_OTH=0;ExAC_SAS=0.0003;CLNALLELEID=230840;CLNDN=Hypertrophic_cardiomyopathy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;SIFT_score=0.286;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.088;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=0.55;MutationAssessor_pred=N;FATHMM_score=0.92;FATHMM_pred=T;PROVEAN_score=-0.35;PROVEAN_pred=N;VEST3_score=0.059;CADD_raw=-0.620;CADD_phred=0.111;DANN_score=0.773;fathmm-MKL_coding_score=0.208;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.066;MetaSVM_pred=T;MetaLR_score=0.045;MetaLR_pred=T;integrated_fitCons_score=0.002;integrated_confidence_value=3;GERP++_RS=-5.95;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=-0.245;phastCons7way_vertebrate=0.997;phastCons20way_mammalian=0.991;SiPhy_29way_logOdds=7.904;GDI_full_10282015=.;dpsi_max_tissue=0.5282;dpsi_zscore=1.160;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0006;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0002;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0010;gnomAD_exome_NFE=0.0010;gnomAD_exome_OTH=0.0007;gnomAD_exome_SAS=0.0003;gnomAD_genome_ALL=0.0005;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0011;gnomAD_genome_NFE=0.0007;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:DP:CLCAD2 . . . . . . 1:121:0,59 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 18 3135639 . C T 200.00 . #_unique_end_positions=,20;#_unique_start_positions=,18;AC=1;AN=1;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.17;Coding_region_change=,NM_003803.3:c.2115G>A|_NM_019856.1:c.2115G>A;Coding_region_change_in_longest_transcript=,NM_003803.3:c.2115G>A;Forward_read_coverage=,47;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:8736;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:8736;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:7613;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:7613;Homo_sapiens_refseq_GRCh37.p13_Genes=,MYOM1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_019856.1|NM_003803.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene34375;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna50210|rna50211;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:603508;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:603508;Non-synonymous=,No;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene34375;QUAL=,200.0;Read_count=,35;Read_coverage=,84;Read_direction_test_probability=,0.9960283119868336;Read_position_test_probability=,0.9554551091531271;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_019856.1|NM_003803.3;Reverse_read_coverage=,37;SF=22;conservation_score=,0.976;db_xref=,GeneID:8736|HGNC:HGNC:7613|MIM:603508;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_019856.1|Genbank:NM_003803.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,myomesin_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MYOM1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MYOM1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SKELEMIN;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,myomesin_1|_transcript_variant_2|myomesin_1|_transcript_variant_1;transcript_id=,NM_019856.1|NM_003803.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYOM1:NM_003803:exon15:c.G2115A:p.G705G,MYOM1:NM_019856:exon15:c.G2115A:p.G705G;cytoBand=18p11.31;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs759539330;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;ExAC_ALL=1.662e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0.0001;ExAC_FIN=0;ExAC_NFE=1.503e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0353;dpsi_zscore=0.226;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=1.219e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=5.802e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=1.791e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . 1:77:0,34 . . . . . . . . . . . . . . . . . . . 18 3164385 226800;rs11659820 C T 163.70 . #_unique_end_positions=,15;#_unique_start_positions=,11;AC=14;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2549;AF_ESP_clinvar_20171029_hg19=,0.2218;AF_EXAC_clinvar_20171029_hg19=,0.21558;AF_TGP_clinvar_20171029_hg19=,0.1687;ALLELEID_clinvar_20171029_hg19=,230876;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1744;AN=14;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.8313|0.1687;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000018.9:g.3164385C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_single_submitter;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_003803.3:c.1392G>A|_NM_019856.1:c.1392G>A;Coding_region_change_in_longest_transcript=,NM_003803.3:c.1392G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0079;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2366;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,31;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,MYOM1:8736;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:8736;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:8736;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:7613;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:7613;Homo_sapiens_refseq_GRCh37.p13_Genes=,MYOM1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_019856.1|NM_003803.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene34375;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna50210|rna50211;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:603508;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:603508;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene34375;QUAL=,64.41758622708318;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,3164385;RS_dbsnp_common_v150_hg19_refseq=,11659820;Read_count=,20;Read_coverage=,59;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.8571140995040784;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_019856.1|NM_003803.3;Reverse_read_coverage=,28;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1442;SF=0,1,2,4,7,9,11,19,22,24,28,30,40;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.771069|0.228931;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05012800030515053e000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:8736|HGNC:HGNC:7613|MIM:603508;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_019856.1|Genbank:NM_003803.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,myomesin_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MYOM1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MYOM1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SKELEMIN;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,myomesin_1|_transcript_variant_2|myomesin_1|_transcript_variant_1;transcript_id=,NM_019856.1|NM_003803.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYOM1:NM_003803:exon10:c.G1392A:p.R464R,MYOM1:NM_019856:exon10:c.G1392A:p.R464R;cytoBand=18p11.31;genomicSuperDups=.;esp6500siv2_all=0.2218;esp6500siv2_ea=0.2072;esp6500siv2_all=0.2218;esp6500siv2_ea=0.2072;1000g2015aug_all=0.16873;avsnp147=rs11659820;Kaviar_AF=0.182617;Kaviar_AC=28233;Kaviar_AN=154602;ExAC_ALL=0.2156;ExAC_AFR=0.2866;ExAC_AMR=0.1961;ExAC_EAS=0.0080;ExAC_FIN=0.1741;ExAC_NFE=0.2406;ExAC_OTH=0.1934;ExAC_SAS=0.2001;CLNALLELEID=230876;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.4215;dpsi_zscore=1.047;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1796;gnomAD_exome_AFR=0.2624;gnomAD_exome_AMR=0.1541;gnomAD_exome_ASJ=0.1926;gnomAD_exome_EAS=0.0053;gnomAD_exome_FIN=0.1476;gnomAD_exome_NFE=0.2097;gnomAD_exome_OTH=0.1907;gnomAD_exome_SAS=0.1741;gnomAD_genome_ALL=0.1943;gnomAD_genome_AFR=0.2700;gnomAD_genome_AMR=0.1579;gnomAD_genome_ASJ=0.1755;gnomAD_genome_EAS=0.0012;gnomAD_genome_FIN=0.1388;gnomAD_genome_NFE=0.1874;gnomAD_genome_OTH=0.1820;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:50:0,15 1:66:0,29 1:60:0,26 . 1:46:0,24 . . 1:39:0,20 . 1:44:0,21 . 1:60:0,24 . . . . . . . 1:51:0,32 . . 1/1:38:0,38 . 1:54:0,29 . . . 1:76:0,33 . 1:69:0,34 . . . . . . . . . 1:47:0,26 . 18 3168816 226799;rs2230167 G A 172.41 . #_unique_end_positions=,26;#_unique_start_positions=,22;AC=19;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3313;AF_ESP_clinvar_20171029_hg19=,0.2792;AF_EXAC_clinvar_20171029_hg19=,0.26202;AF_TGP_clinvar_20171029_hg19=,0.2822;ALLELEID_clinvar_20171029_hg19=,230878;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2061;AN=19;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.7179|0.2821|.;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000018.9:g.3168816G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_single_submitter;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_003803.3:c.1338C>T|_NM_019856.1:c.1338C>T;Coding_region_change_in_longest_transcript=,NM_003803.3:c.1338C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2798;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2356;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,43;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,MYOM1:8736;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:8736;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:8736;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:7613;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:7613;Homo_sapiens_refseq_GRCh37.p13_Genes=,MYOM1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_019856.1|NM_003803.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene34375;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna50210|rna50211;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:603508;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:603508;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene34375;QUAL=,144.23110853148748;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,3168816;RS_dbsnp_common_v150_hg19_refseq=,2230167;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,39;Read_coverage=,66;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9997791348351583;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_019856.1|NM_003803.3;Reverse_read_coverage=,23;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3200;SF=0,2,3,5,7,8,9,10,11,15,16,17,20,24,34,37,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.722062|0.277938|.;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05012800030517053f000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:8736|HGNC:HGNC:7613|MIM:603508;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_019856.1|Genbank:NM_003803.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,myomesin_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MYOM1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MYOM1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SKELEMIN;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,myomesin_1|_transcript_variant_2|myomesin_1|_transcript_variant_1;transcript_id=,NM_019856.1|NM_003803.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYOM1:NM_003803:exon9:c.C1338T:p.N446N,MYOM1:NM_019856:exon9:c.C1338T:p.N446N;cytoBand=18p11.31;genomicSuperDups=.;esp6500siv2_all=0.2792;esp6500siv2_ea=0.2648;esp6500siv2_all=0.2792;esp6500siv2_ea=0.2648;1000g2015aug_all=0.282149;avsnp147=rs2230167;Kaviar_AF=0.258082;Kaviar_AC=39900;Kaviar_AN=154602;ExAC_ALL=0.2620;ExAC_AFR=0.3255;ExAC_AMR=0.1886;ExAC_EAS=0.2747;ExAC_FIN=0.2263;ExAC_NFE=0.2619;ExAC_OTH=0.2360;ExAC_SAS=0.2855;CLNALLELEID=230878;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0308;dpsi_zscore=0.201;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2571;gnomAD_exome_AFR=0.3226;gnomAD_exome_AMR=0.1875;gnomAD_exome_ASJ=0.2727;gnomAD_exome_EAS=0.2792;gnomAD_exome_FIN=0.2254;gnomAD_exome_NFE=0.2633;gnomAD_exome_OTH=0.2612;gnomAD_exome_SAS=0.2827;gnomAD_genome_ALL=0.2816;gnomAD_genome_AFR=0.3193;gnomAD_genome_AMR=0.2196;gnomAD_genome_ASJ=0.2781;gnomAD_genome_EAS=0.2770;gnomAD_genome_FIN=0.2443;gnomAD_genome_NFE=0.2740;gnomAD_genome_OTH=0.2566;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:54:0,32 . 1:62:0,26 1:59:0,24 . 1:54:0,18 . 1:37:0,12 1:57:0,22 1:69:0,33 1:74:0,43 1:51:0,21 . . . 1:59:0,25 1:64:0,37 1:62:0,32 . . 1:77:0,30 . . . 1:72:0,29 . . . . . . . . . 1:74:0,34 . . 1:56:0,24 . 1:61:0,31 1:74:0,38 1:42:0,20 18 3173964 226798;rs2230163 G A 162.42 . #_unique_end_positions=,16;#_unique_start_positions=,14;AC=21;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4002;AF_ESP_clinvar_20171029_hg19=,0.3395;AF_EXAC_clinvar_20171029_hg19=,0.30103;AF_TGP_clinvar_20171029_hg19=,0.3161;ALLELEID_clinvar_20171029_hg19=,230880;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2262;AN=21;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.6839|0.3161|.;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000018.9:g.3173964G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_single_submitter;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_003803.3:c.1146C>T|_NM_019856.1:c.1146C>T;Coding_region_change_in_longest_transcript=,NM_003803.3:c.1146C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2669;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3062;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,42;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,MYOM1:8736;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:8736;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:8736;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:7613;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:7613;Homo_sapiens_refseq_GRCh37.p13_Genes=,MYOM1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_019856.1|NM_003803.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene34375;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna50210|rna50211;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:603508;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:603508;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene34375;QUAL=,86.70823371776622;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,3173964;RS_dbsnp_common_v150_hg19_refseq=,2230163;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,20;Read_coverage=,61;Read_direction_test_probability=,0.9653957855695673;Read_position_test_probability=,0.7430735443230702;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_019856.1|NM_003803.3;Reverse_read_coverage=,19;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3272;SF=0,2,3,5,7,8,9,10,11,15,16,17,20,24,30,34,35,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.65918|0.34082|.;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05012800030517053f000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.016;db_xref=,GeneID:8736|HGNC:HGNC:7613|MIM:603508;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_019856.1|Genbank:NM_003803.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,myomesin_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MYOM1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MYOM1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SKELEMIN;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,myomesin_1|_transcript_variant_2|myomesin_1|_transcript_variant_1;transcript_id=,NM_019856.1|NM_003803.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYOM1:NM_003803:exon8:c.C1146T:p.H382H,MYOM1:NM_019856:exon8:c.C1146T:p.H382H;cytoBand=18p11.31;genomicSuperDups=.;esp6500siv2_all=0.3395;esp6500siv2_ea=0.3157;esp6500siv2_all=0.3395;esp6500siv2_ea=0.3157;1000g2015aug_all=0.316094;avsnp147=rs2230163;Kaviar_AF=0.29834;Kaviar_AC=46124;Kaviar_AN=154602;ExAC_ALL=0.3010;ExAC_AFR=0.3991;ExAC_AMR=0.2033;ExAC_EAS=0.2496;ExAC_FIN=0.2929;ExAC_NFE=0.3103;ExAC_OTH=0.2617;ExAC_SAS=0.3061;CLNALLELEID=230880;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.2262;dpsi_zscore=-1.592;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2975;gnomAD_exome_AFR=0.4106;gnomAD_exome_AMR=0.2111;gnomAD_exome_ASJ=0.3182;gnomAD_exome_EAS=0.2491;gnomAD_exome_FIN=0.2918;gnomAD_exome_NFE=0.3126;gnomAD_exome_OTH=0.2966;gnomAD_exome_SAS=0.3053;gnomAD_genome_ALL=0.3386;gnomAD_genome_AFR=0.4137;gnomAD_genome_AMR=0.2506;gnomAD_genome_ASJ=0.3278;gnomAD_genome_EAS=0.2454;gnomAD_genome_FIN=0.3003;gnomAD_genome_NFE=0.3221;gnomAD_genome_OTH=0.2924;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:56:0,18 . 1:63:0,25 1:49:0,22 . 1:44:0,19 . 1:40:0,17 1:54:0,28 1:53:0,34 1:55:0,31 1:45:0,23 . . . 1:35:0,17 1:58:0,24 1:62:0,29 . . 1:57:0,26 . . . 1:72:0,34 . . . . . 1:67:0,30 . . . 1:68:0,23 1/1:44:0,44 . . . 1:71:0,33 1:82:0,39 1:52:0,17 18 3176040 226796;rs8099021 C G 71.86 . #_unique_end_positions=,22;#_unique_start_positions=,21;AC=48;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7829;ALLELEID_clinvar_20171029_hg19=,230883;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7579;AN=48;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_003794.3:p.Gly341Ala|_NP_062830.1:p.Gly341Ala;Amino_acid_change_in_longest_transcript=,NP_003794.3:p.Gly341Ala;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.2428|.|0.7572;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000018.9:g.3176040C>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_single_submitter;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_003803.3:c.1022G>C|_NM_019856.1:c.1022G>C;Coding_region_change_in_longest_transcript=,NM_003803.3:c.1022G>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7421;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7097;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,24;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,MYOM1:8736;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:8736;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:8736;Genotype=,G/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:7613;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:7613;Homo_sapiens_refseq_GRCh37.p13_Genes=,MYOM1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_019856.1|NM_003803.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene34375;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna50210|rna50211;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:603508;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:603508;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene34375;QUAL=,107.02295130046554;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,3176040;RS_dbsnp_common_v150_hg19_refseq=,8099021;Read_count=,29;Read_coverage=,29;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_019856.1|NM_003803.3;Reverse_read_coverage=,5;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7863;SF=0,1,2,3,4,5,6,7,8,10,11,13,15,16,17,18,19,20,21,22,23,24,25,28,29,30,32,34,35,37,38,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.243011|.|0.756989;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128000a0515053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.846939;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.766667;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.670732;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.755952;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.733333;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.711111;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.784091;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.795918;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.680233;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.85;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.048;db_xref=,GeneID:8736|HGNC:HGNC:7613|MIM:603508;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_019856.1|Genbank:NM_003803.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,myomesin_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MYOM1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MYOM1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SKELEMIN;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,myomesin_1|_transcript_variant_2|myomesin_1|_transcript_variant_1;transcript_id=,NM_019856.1|NM_003803.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYOM1:NM_003803:exon6:c.G1022C:p.G341A,MYOM1:NM_019856:exon6:c.G1022C:p.G341A;cytoBand=18p11.31;genomicSuperDups=.;esp6500siv2_all=0.7456;esp6500siv2_ea=0.7156;esp6500siv2_all=0.7456;esp6500siv2_ea=0.7156;1000g2015aug_all=0.757188;avsnp147=rs8099021;Kaviar_AF=0.72391;Kaviar_AC=111918;Kaviar_AN=154602;ExAC_ALL=0.7384;ExAC_AFR=0.7990;ExAC_AMR=0.7797;ExAC_EAS=0.7506;ExAC_FIN=0.7606;ExAC_NFE=0.7042;ExAC_OTH=0.7387;ExAC_SAS=0.7961;CLNALLELEID=230883;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.798;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.943;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.02;MutationAssessor_pred=N;FATHMM_score=-0.78;FATHMM_pred=T;PROVEAN_score=0.68;PROVEAN_pred=N;VEST3_score=0.027;CADD_raw=-1.049;CADD_phred=0.013;DANN_score=0.223;fathmm-MKL_coding_score=0.139;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.916;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.601;integrated_confidence_value=0;GERP++_RS=1.97;phyloP7way_vertebrate=-1.384;phyloP20way_mammalian=-0.313;phastCons7way_vertebrate=0.691;phastCons20way_mammalian=0.306;SiPhy_29way_logOdds=14.746;GDI_full_10282015=.;dpsi_max_tissue=-0.8534;dpsi_zscore=-1.380;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.7431;gnomAD_exome_AFR=0.8056;gnomAD_exome_AMR=0.7748;gnomAD_exome_ASJ=0.6965;gnomAD_exome_EAS=0.7516;gnomAD_exome_FIN=0.7706;gnomAD_exome_NFE=0.7079;gnomAD_exome_OTH=0.7388;gnomAD_exome_SAS=0.7960;gnomAD_genome_ALL=0.7593;gnomAD_genome_AFR=0.8089;gnomAD_genome_AMR=0.7363;gnomAD_genome_ASJ=0.6954;gnomAD_genome_EAS=0.7395;gnomAD_genome_FIN=0.7791;gnomAD_genome_NFE=0.7326;gnomAD_genome_OTH=0.7291;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1/1:26:0,26 1:15:0,6 1:17:0,8 1/1:14:0,14 1/1:16:0,16 1:24:0,12 1/1:17:0,16 1:12:0,7 1/1:14:0,14 . 1:22:0,9 1/1:16:0,16 . 1/1:19:0,19 . 1:21:0,8 1:26:0,11 1:22:0,9 1:26:0,13 1/1:14:0,14 1:22:0,12 1:28:0,13 1/1:35:0,35 1:26:0,7 1/1:20:0,20 1/1:17:0,17 . . 1:24:0,8 1:18:0,6 1:26:0,8 . 1:21:0,12 . 1/1:23:0,23 1/1:16:0,16 . 1:24:0,8 1:18:0,8 1:28:0,12 1:22:0,10 1/1:20:0,20 18 3176063 226838;rs2230162 C T 66.66 . #_unique_end_positions=,11;#_unique_start_positions=,11;AC=20;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2436;AF_ESP_clinvar_20171029_hg19=,0.2940;AF_EXAC_clinvar_20171029_hg19=,0.28611;AF_TGP_clinvar_20171029_hg19=,0.2732;ALLELEID_clinvar_20171029_hg19=,230884;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2161;AN=20;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.7268|0.2732;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000018.9:g.3176063C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_single_submitter;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_003803.3:c.999G>A|_NM_019856.1:c.999G>A;Coding_region_change_in_longest_transcript=,NM_003803.3:c.999G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2659;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3062;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,20;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,MYOM1:8736;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:8736;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:8736;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:7613;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:7613;Homo_sapiens_refseq_GRCh37.p13_Genes=,MYOM1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_019856.1|NM_003803.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene34375;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna50210|rna50211;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:603508;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:603508;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene34375;QUAL=,89.4729444011743;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,3176063;RS_dbsnp_common_v150_hg19_refseq=,2230162;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,13;Read_coverage=,29;Read_direction_test_probability=,0.7116459411034298;Read_position_test_probability=,0.8130740347778325;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_019856.1|NM_003803.3;Reverse_read_coverage=,9;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3272;SF=0,2,3,5,7,8,10,11,15,16,17,20,24,30,34,35,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.720413|0.279587;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05012800030515053f000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:8736|HGNC:HGNC:7613|MIM:603508;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_019856.1|Genbank:NM_003803.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,myomesin_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MYOM1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MYOM1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SKELEMIN;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,myomesin_1|_transcript_variant_2|myomesin_1|_transcript_variant_1;transcript_id=,NM_019856.1|NM_003803.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYOM1:NM_003803:exon6:c.G999A:p.G333G,MYOM1:NM_019856:exon6:c.G999A:p.G333G;cytoBand=18p11.31;genomicSuperDups=.;esp6500siv2_all=0.2940;esp6500siv2_ea=0.3116;esp6500siv2_all=0.2940;esp6500siv2_ea=0.3116;1000g2015aug_all=0.273163;avsnp147=rs2230162;Kaviar_AF=0.282008;Kaviar_AC=43599;Kaviar_AN=154602;ExAC_ALL=0.2861;ExAC_AFR=0.2650;ExAC_AMR=0.1955;ExAC_EAS=0.2464;ExAC_FIN=0.2904;ExAC_NFE=0.3057;ExAC_OTH=0.2523;ExAC_SAS=0.3034;CLNALLELEID=230884;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.3491;dpsi_zscore=0.958;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2829;gnomAD_exome_AFR=0.2704;gnomAD_exome_AMR=0.1980;gnomAD_exome_ASJ=0.3056;gnomAD_exome_EAS=0.2455;gnomAD_exome_FIN=0.2891;gnomAD_exome_NFE=0.3079;gnomAD_exome_OTH=0.2853;gnomAD_exome_SAS=0.2997;gnomAD_genome_ALL=0.2992;gnomAD_genome_AFR=0.2791;gnomAD_genome_AMR=0.2315;gnomAD_genome_ASJ=0.3179;gnomAD_genome_EAS=0.2435;gnomAD_genome_FIN=0.3008;gnomAD_genome_NFE=0.3207;gnomAD_genome_OTH=0.2859;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:23:0,12 . 1:16:0,7 1:23:0,13 . 1:25:0,13 . 1:12:0,8 1:18:0,11 . 1:22:0,8 1:18:0,11 . . . 1:22:0,8 1:31:0,14 1:23:0,9 . . 1:22:0,10 . . . 1:20:0,10 . . . . . 1:30:0,8 . . . 1:29:0,10 1/1:20:0,20 . . . 1:25:0,10 1:23:0,10 1:22:0,8 18 3188857 226834;rs2230166 A G 200.00 . #_unique_end_positions=,59;#_unique_start_positions=,48;AC=8;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2042;AF_ESP_clinvar_20171029_hg19=,0.0998;AF_TGP_clinvar_20171029_hg19=,0.0895;ALLELEID_clinvar_20171029_hg19=,230887;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0720;AN=8;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.9105|0.08946;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000018.9:g.3188857A>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_single_submitter;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_003803.3:c.660T>C|_NM_019856.1:c.660T>C;Coding_region_change_in_longest_transcript=,NM_003803.3:c.660T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0696;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,84;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,MYOM1:8736;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:8736;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:8736;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:7613;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:7613;Homo_sapiens_refseq_GRCh37.p13_Genes=,MYOM1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_019856.1|NM_003803.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene34375;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna50210|rna50211;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:603508;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:603508;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene34375;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,3188857;RS_dbsnp_common_v150_hg19_refseq=,2230166;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,116;Read_coverage=,239;Read_direction_test_probability=,0.9527392681436124;Read_position_test_probability=,0.5910568126509563;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_019856.1|NM_003803.3;Reverse_read_coverage=,155;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0583;SF=0,2,7,9,13,24,27,40;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.877292|0.122708;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05012800030515053f000101;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.214286;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0973451;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.0121951;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.0681818;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.155556;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.0714286;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.223776;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.0574713;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.191964;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.006;db_xref=,GeneID:8736|HGNC:HGNC:7613|MIM:603508;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_019856.1|Genbank:NM_003803.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,myomesin_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MYOM1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MYOM1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SKELEMIN;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,myomesin_1|_transcript_variant_2|myomesin_1|_transcript_variant_1;transcript_id=,NM_019856.1|NM_003803.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYOM1:NM_003803:exon4:c.T660C:p.S220S,MYOM1:NM_019856:exon4:c.T660C:p.S220S;cytoBand=18p11.31;genomicSuperDups=.;esp6500siv2_all=0.0998;esp6500siv2_ea=0.0589;esp6500siv2_all=0.0998;esp6500siv2_ea=0.0589;1000g2015aug_all=0.0894569;avsnp147=rs2230166;Kaviar_AF=0.0124901;Kaviar_AC=1931;Kaviar_AN=154602;ExAC_ALL=0.0616;ExAC_AFR=0.1894;ExAC_AMR=0.0356;ExAC_EAS=0.0001;ExAC_FIN=0.0310;ExAC_NFE=0.0577;ExAC_OTH=0.0594;ExAC_SAS=0.0642;CLNALLELEID=230887;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0047;dpsi_zscore=-0.002;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0580;gnomAD_exome_AFR=0.1928;gnomAD_exome_AMR=0.0394;gnomAD_exome_ASJ=0.0892;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0.0299;gnomAD_exome_NFE=0.0557;gnomAD_exome_OTH=0.0609;gnomAD_exome_SAS=0.0616;gnomAD_genome_ALL=0.0814;gnomAD_genome_AFR=0.1848;gnomAD_genome_AMR=0.0573;gnomAD_genome_ASJ=0.0795;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0290;gnomAD_genome_NFE=0.0462;gnomAD_genome_OTH=0.0468;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:192:0,96 . 1:208:0,117 . . . . 1:243:0,122 . 1:203:0,83 . . . 1:278:0,129 . . . . . . . . . . 1:251:0,96 . . 1:273:0,123 . . . . . . . . . . . . 1:274:0,112 . 18 3188873 226832;rs2230165 G A 200.00 . #_unique_end_positions=,62;#_unique_start_positions=,45;AC=7;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1490;AF_ESP_clinvar_20171029_hg19=,0.0821;AF_EXAC_clinvar_20171029_hg19=,0.05655;AF_TGP_clinvar_20171029_hg19=,0.0717;ALLELEID_clinvar_20171029_hg19=,230888;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0504;AN=7;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_062830.1:p.Thr215Met|_NP_003794.3:p.Thr215Met;Amino_acid_change_in_longest_transcript=,NP_003794.3:p.Thr215Met;BaseQRankSum=,-0.62;CAF_dbsnp_common_v150_hg19_refseq=,0.9283|0.07169;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000018.9:g.3188873G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_single_submitter;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_003803.3:c.644C>T|_NM_019856.1:c.644C>T;Coding_region_change_in_longest_transcript=,NM_003803.3:c.644C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0020;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0676;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,81;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,MYOM1:8736;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:8736;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:8736;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:7613;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:7613;Homo_sapiens_refseq_GRCh37.p13_Genes=,MYOM1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_019856.1|NM_003803.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene34375;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna50210|rna50211;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:603508;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:603508;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene34375;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,3188873;RS_dbsnp_common_v150_hg19_refseq=,2230165;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,120;Read_coverage=,250;Read_direction_test_probability=,0.8246011102652377;Read_position_test_probability=,0.6834306151288199;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_019856.1|NM_003803.3;Reverse_read_coverage=,169;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0583;SF=0,7,9,13,24,27,40;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.90305|0.0969503;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128000a0515053e000101;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.133333;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0111111;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.108333;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.004;db_xref=,GeneID:8736|HGNC:HGNC:7613|MIM:603508;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_019856.1|Genbank:NM_003803.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,myomesin_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MYOM1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MYOM1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SKELEMIN;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,myomesin_1|_transcript_variant_2|myomesin_1|_transcript_variant_1;transcript_id=,NM_019856.1|NM_003803.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYOM1:NM_003803:exon4:c.C644T:p.T215M,MYOM1:NM_019856:exon4:c.C644T:p.T215M;cytoBand=18p11.31;genomicSuperDups=.;esp6500siv2_all=0.0821;esp6500siv2_ea=0.0586;esp6500siv2_all=0.0821;esp6500siv2_ea=0.0586;1000g2015aug_all=0.0716853;avsnp147=rs2230165;Kaviar_AF=0.055562;Kaviar_AC=8590;Kaviar_AN=154602;ExAC_ALL=0.0565;ExAC_AFR=0.1390;ExAC_AMR=0.0291;ExAC_EAS=0.0001;ExAC_FIN=0.0312;ExAC_NFE=0.0573;ExAC_OTH=0.0535;ExAC_SAS=0.0639;CLNALLELEID=230888;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.133;SIFT_pred=T;Polyphen2_HDIV_score=0.899;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.432;Polyphen2_HVAR_pred=B;LRT_score=0.654;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=0.81;FATHMM_pred=T;PROVEAN_score=0.26;PROVEAN_pred=N;VEST3_score=0.095;CADD_raw=0.500;CADD_phred=7.431;DANN_score=0.978;fathmm-MKL_coding_score=0.024;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.107;MetaSVM_pred=T;MetaLR_score=0.001;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=.;phyloP7way_vertebrate=-0.218;phyloP20way_mammalian=0.421;phastCons7way_vertebrate=0.002;phastCons20way_mammalian=0.010;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0112;dpsi_zscore=0.077;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0534;gnomAD_exome_AFR=0.1375;gnomAD_exome_AMR=0.0341;gnomAD_exome_ASJ=0.0885;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0.0297;gnomAD_exome_NFE=0.0553;gnomAD_exome_OTH=0.0566;gnomAD_exome_SAS=0.0613;gnomAD_genome_ALL=0.0664;gnomAD_genome_AFR=0.1334;gnomAD_genome_AMR=0.0480;gnomAD_genome_ASJ=0.0795;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0289;gnomAD_genome_NFE=0.0458;gnomAD_genome_OTH=0.0429;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:206:0,101 . . . . . . 1:266:0,135 . 1:230:0,95 . . . 1:294:0,131 . . . . . . . . . . 1:271:0,108 . . 1:292:0,125 . . . . . . . . . . . . 1:306:0,126 . 18 3188976 226830;rs1962519 A G 196.15 . #_unique_end_positions=,45;#_unique_start_positions=,35;AC=23;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1641;AF_ESP_clinvar_20171029_hg19=,0.3413;AF_EXAC_clinvar_20171029_hg19=,0.43735;AF_TGP_clinvar_20171029_hg19=,0.4433;ALLELEID_clinvar_20171029_hg19=,230890;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4020;AN=23;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_062830.1:p.Ser181Pro|_NP_003794.3:p.Ser181Pro;Amino_acid_change_in_longest_transcript=,NP_003794.3:p.Ser181Pro;BaseQRankSum=,0.05;CAF_dbsnp_common_v150_hg19_refseq=,0.5567|0.4433;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000018.9:g.3188976A>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_single_submitter;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_003803.3:c.541T>C|_NM_019856.1:c.541T>C;Coding_region_change_in_longest_transcript=,NM_003803.3:c.541T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.8363;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4026;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,59;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,MYOM1:8736;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:8736;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:8736;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:7613;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:7613;Homo_sapiens_refseq_GRCh37.p13_Genes=,MYOM1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_019856.1|NM_003803.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene34375;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna50210|rna50211;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:603508;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:603508;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene34375;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,3188976;RS_dbsnp_common_v150_hg19_refseq=,1962519;Read_count=,75;Read_coverage=,144;Read_direction_test_probability=,0.9951200252026748;Read_position_test_probability=,0.8222948784669115;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_019856.1|NM_003803.3;Reverse_read_coverage=,85;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4867;SF=0,3,4,6,8,10,11,13,15,16,17,18,19,21,24,29,32,34,37,39,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.670444|0.329556;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128000a0515053f000101;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.265306;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.391667;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.841463;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.794118;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.488506;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.788889;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.866667;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.33;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.171329;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.318182;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.141667;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.612;db_xref=,GeneID:8736|HGNC:HGNC:7613|MIM:603508;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_019856.1|Genbank:NM_003803.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,myomesin_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MYOM1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MYOM1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SKELEMIN;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,myomesin_1|_transcript_variant_2|myomesin_1|_transcript_variant_1;transcript_id=,NM_019856.1|NM_003803.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYOM1:NM_003803:exon4:c.T541C:p.S181P,MYOM1:NM_019856:exon4:c.T541C:p.S181P;cytoBand=18p11.31;genomicSuperDups=.;esp6500siv2_all=0.3413;esp6500siv2_ea=0.4153;esp6500siv2_all=0.3413;esp6500siv2_ea=0.4153;1000g2015aug_all=0.443291;avsnp147=rs1962519;Kaviar_AF=0.429069;Kaviar_AC=66335;Kaviar_AN=154602;ExAC_ALL=0.4374;ExAC_AFR=0.1976;ExAC_AMR=0.4007;ExAC_EAS=0.8196;ExAC_FIN=0.4921;ExAC_NFE=0.4155;ExAC_OTH=0.4131;ExAC_SAS=0.4736;CLNALLELEID=230890;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.111;SIFT_pred=T;Polyphen2_HDIV_score=0.978;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.719;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=0.73;FATHMM_pred=T;PROVEAN_score=-1.25;PROVEAN_pred=N;VEST3_score=0.169;CADD_raw=2.095;CADD_phred=16.82;DANN_score=0.988;fathmm-MKL_coding_score=0.095;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.993;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=1.27;phyloP7way_vertebrate=-0.000;phyloP20way_mammalian=1.171;phastCons7way_vertebrate=0.021;phastCons20way_mammalian=0.092;SiPhy_29way_logOdds=7.638;GDI_full_10282015=.;dpsi_max_tissue=-0.0085;dpsi_zscore=-0.027;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.4438;gnomAD_exome_AFR=0.1960;gnomAD_exome_AMR=0.3987;gnomAD_exome_ASJ=0.3927;gnomAD_exome_EAS=0.8208;gnomAD_exome_FIN=0.5039;gnomAD_exome_NFE=0.4177;gnomAD_exome_OTH=0.4294;gnomAD_exome_SAS=0.4746;gnomAD_genome_ALL=0.4044;gnomAD_genome_AFR=0.2102;gnomAD_genome_AMR=0.3940;gnomAD_genome_ASJ=0.4262;gnomAD_genome_EAS=0.8229;gnomAD_genome_FIN=0.5152;gnomAD_genome_NFE=0.4448;gnomAD_genome_OTH=0.4371;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:131:0,71 . . 1:152:0,65 1:130:0,62 . 1/1:142:0,142 . 1:198:0,96 . 1:219:0,101 1:150:0,82 . 1:212:0,107 . 1:197:0,103 1:206:0,95 1:195:0,92 1:201:0,103 1:158:0,88 . 1:213:0,110 . . 1:190:0,93 . . . . 1:223:0,116 . . 1:170:0,79 . 1:190:0,98 . . 1:161:0,87 . 1:244:0,123 . 1/1:186:0,186 18 3215030 226808;rs9964300 C A 200.00 . #_unique_end_positions=,46;#_unique_start_positions=,53;AC=5;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1505;AF_ESP_clinvar_20171029_hg19=,0.0760;AF_EXAC_clinvar_20171029_hg19=,0.06536;AF_TGP_clinvar_20171029_hg19=,0.0731;ALLELEID_clinvar_20171029_hg19=,230898;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0994;AN=5;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.76;CAF_dbsnp_common_v150_hg19_refseq=,0.9269|0.07308;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000018.9:g.3215030C>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_single_submitter;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_003803.3:c.192G>T|_NM_019856.1:c.192G>T;Coding_region_change_in_longest_transcript=,NM_003803.3:c.192G>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0119;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0547;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,110;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,MYOM1:8736;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:8736;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:8736;Genotype=,A/C;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:7613;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:7613;Homo_sapiens_refseq_GRCh37.p13_Genes=,MYOM1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_019856.1|NM_003803.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene34375;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna50210|rna50211;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:603508;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:603508;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene34375;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,3215030;RS_dbsnp_common_v150_hg19_refseq=,9964300;Read_count=,119;Read_coverage=,241;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.995315047234958;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_019856.1|NM_003803.3;Reverse_read_coverage=,131;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0317;SF=5,20,27,28,29;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.914245|0.0857545;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128000305150537000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0431034;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.118644;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.0;db_xref=,GeneID:8736|HGNC:HGNC:7613|MIM:603508;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_019856.1|Genbank:NM_003803.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,myomesin_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MYOM1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MYOM1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SKELEMIN;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,myomesin_1|_transcript_variant_2|myomesin_1|_transcript_variant_1;transcript_id=,NM_019856.1|NM_003803.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYOM1:NM_003803:exon2:c.G192T:p.A64A,MYOM1:NM_019856:exon2:c.G192T:p.A64A;cytoBand=18p11.31;genomicSuperDups=.;esp6500siv2_all=0.0760;esp6500siv2_ea=0.0565;esp6500siv2_all=0.0760;esp6500siv2_ea=0.0565;1000g2015aug_all=0.0730831;avsnp147=rs9964300;Kaviar_AF=0.063311;Kaviar_AC=9788;Kaviar_AN=154602;ExAC_ALL=0.0654;ExAC_AFR=0.1306;ExAC_AMR=0.0817;ExAC_EAS=0.0081;ExAC_FIN=0.0591;ExAC_NFE=0.0652;ExAC_OTH=0.0661;ExAC_SAS=0.0490;CLNALLELEID=230898;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.0025;dpsi_zscore=-1.472;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0636;gnomAD_exome_AFR=0.1337;gnomAD_exome_AMR=0.0855;gnomAD_exome_ASJ=0.0230;gnomAD_exome_EAS=0.0067;gnomAD_exome_FIN=0.0611;gnomAD_exome_NFE=0.0642;gnomAD_exome_OTH=0.0599;gnomAD_exome_SAS=0.0499;gnomAD_genome_ALL=0.0826;gnomAD_genome_AFR=0.1357;gnomAD_genome_AMR=0.0778;gnomAD_genome_ASJ=0.0265;gnomAD_genome_EAS=0.0018;gnomAD_genome_FIN=0.0657;gnomAD_genome_NFE=0.0665;gnomAD_genome_OTH=0.0716;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . 1:207:0,99 . . . . . . . . . . . . . . 1:180:0,96 . . . . . . 1:275:0,118 1:283:0,127 1:249:0,139 . . . . . . . . . . . . 18 3215131 226836;rs76382984 G T 200.00 . #_unique_end_positions=,49;#_unique_start_positions=,50;AC=2;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0092;AF_EXAC_clinvar_20171029_hg19=,0.01732;AF_TGP_clinvar_20171029_hg19=,0.0138;ALLELEID_clinvar_20171029_hg19=,230902;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0231;AN=2;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.13;CAF_dbsnp_common_v150_hg19_refseq=,0.9862|0.01378;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000018.9:g.3215131G>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_003803.3:c.91C>A|_NM_019856.1:c.91C>A;Coding_region_change_in_longest_transcript=,NM_003803.3:c.91C>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0337;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0149;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,45;GENEINFO_dbsnp_common_v150_hg19_refseq=,MYOM1:8736;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:8736;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:8736;Genotype=,G/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:7613;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:7613;Homo_sapiens_refseq_GRCh37.p13_Genes=,MYOM1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_019856.1|NM_003803.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene34375;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna50210|rna50211;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:603508;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:603508;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene34375;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,3215131;RS_dbsnp_common_v150_hg19_refseq=,76382984;Read_count=,86;Read_coverage=,161;Read_direction_test_probability=,0.8843974722836567;Read_position_test_probability=,0.9729710109679242;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_019856.1|NM_003803.3;Reverse_read_coverage=,116;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0041;SF=6,8;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.991758|0.00824232;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128000305140436000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:8736|HGNC:HGNC:7613|MIM:603508;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_019856.1|Genbank:NM_003803.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,myomesin_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MYOM1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MYOM1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SKELEMIN;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,myomesin_1|_transcript_variant_2|myomesin_1|_transcript_variant_1;transcript_id=,NM_019856.1|NM_003803.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYOM1:NM_003803:exon2:c.C91A:p.R31R,MYOM1:NM_019856:exon2:c.C91A:p.R31R;cytoBand=18p11.31;genomicSuperDups=.;esp6500siv2_all=0.0092;esp6500siv2_ea=0.0127;esp6500siv2_all=0.0092;esp6500siv2_ea=0.0127;1000g2015aug_all=0.013778;avsnp147=rs76382984;Kaviar_AF=0.0162676;Kaviar_AC=2515;Kaviar_AN=154602;ExAC_ALL=0.0173;ExAC_AFR=0.0022;ExAC_AMR=0.0136;ExAC_EAS=0.0405;ExAC_FIN=0.0395;ExAC_NFE=0.0174;ExAC_OTH=0.0210;ExAC_SAS=0.0071;CLNALLELEID=230902;CLNDN=Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.7041;dpsi_zscore=-1.799;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0173;gnomAD_exome_AFR=0.0020;gnomAD_exome_AMR=0.0130;gnomAD_exome_ASJ=0.0224;gnomAD_exome_EAS=0.0413;gnomAD_exome_FIN=0.0383;gnomAD_exome_NFE=0.0154;gnomAD_exome_OTH=0.0165;gnomAD_exome_SAS=0.0063;gnomAD_genome_ALL=0.0171;gnomAD_genome_AFR=0.0021;gnomAD_genome_AMR=0.0203;gnomAD_genome_ASJ=0.0199;gnomAD_genome_EAS=0.0425;gnomAD_genome_FIN=0.0392;gnomAD_genome_NFE=0.0171;gnomAD_genome_OTH=0.0275;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . 1:151:0,84 . 1:183:0,105 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 18 3215156 226835;rs1662316 C G 200.00 . #_unique_end_positions=,52;#_unique_start_positions=,51;AC=2;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1346;AF_ESP_clinvar_20171029_hg19=,0.0970;AF_EXAC_clinvar_20171029_hg19=,0.10661;AF_TGP_clinvar_20171029_hg19=,0.1290;ALLELEID_clinvar_20171029_hg19=,230903;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0879;AN=2;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.871|.|0.129|.;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000018.9:g.3215156C>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_single_submitter;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_003803.3:c.66G>C|_NM_019856.1:c.66G>C;Coding_region_change_in_longest_transcript=,NM_003803.3:c.66G>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1865;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0934;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,45;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,MYOM1:8736;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:8736;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:8736;Genotype=,C/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:7613;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:7613;Homo_sapiens_refseq_GRCh37.p13_Genes=,MYOM1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_019856.1|NM_003803.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene34375;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna50210|rna50211;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:603508;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:603508;NOV_dbsnp_common_v150_hg19_refseq=,NOV;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,Yes;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene34375;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,3215156;RS_dbsnp_common_v150_hg19_refseq=,1662316;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,89;Read_coverage=,165;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9569583547175079;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_019856.1|NM_003803.3;Reverse_read_coverage=,120;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1278;SF=12,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.890411|.|0.109589|.;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128000305150136000104;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.003;db_xref=,GeneID:8736|HGNC:HGNC:7613|MIM:603508;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_019856.1|Genbank:NM_003803.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,myomesin_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MYOM1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MYOM1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SKELEMIN;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,myomesin_1|_transcript_variant_2|myomesin_1|_transcript_variant_1;transcript_id=,NM_019856.1|NM_003803.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYOM1:NM_003803:exon2:c.G66C:p.V22V,MYOM1:NM_019856:exon2:c.G66C:p.V22V;cytoBand=18p11.31;genomicSuperDups=.;esp6500siv2_all=0.0970;esp6500siv2_ea=0.0858;esp6500siv2_all=0.0970;esp6500siv2_ea=0.0858;1000g2015aug_all=0.128994;avsnp147=rs1662316;Kaviar_AF=0.0951669;Kaviar_AC=14713;Kaviar_AN=154602;ExAC_ALL=0.1066;ExAC_AFR=0.1305;ExAC_AMR=0.0769;ExAC_EAS=0.1737;ExAC_FIN=0.1004;ExAC_NFE=0.0979;ExAC_OTH=0.1038;ExAC_SAS=0.1158;CLNALLELEID=230903;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.2284;dpsi_zscore=0.776;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0989;gnomAD_exome_AFR=0.1206;gnomAD_exome_AMR=0.0724;gnomAD_exome_ASJ=0.0883;gnomAD_exome_EAS=0.1702;gnomAD_exome_FIN=0.0972;gnomAD_exome_NFE=0.0915;gnomAD_exome_OTH=0.0936;gnomAD_exome_SAS=0.1094;gnomAD_genome_ALL=0.1075;gnomAD_genome_AFR=0.1278;gnomAD_genome_AMR=0.0692;gnomAD_genome_ASJ=0.0960;gnomAD_genome_EAS=0.1787;gnomAD_genome_FIN=0.0962;gnomAD_genome_NFE=0.0930;gnomAD_genome_OTH=0.1086;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . . . . 1:154:0,82 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:142:0,63 18 3215158 226833;rs1791085 C G 200.00 . #_unique_end_positions=,52;#_unique_start_positions=,51;AC=2;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1339;AF_ESP_clinvar_20171029_hg19=,0.0969;AF_EXAC_clinvar_20171029_hg19=,0.10697;AF_TGP_clinvar_20171029_hg19=,0.1280;ALLELEID_clinvar_20171029_hg19=,230905;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0879;AN=2;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_003794.3:p.Val22Leu|_NP_062830.1:p.Val22Leu;Amino_acid_change_in_longest_transcript=,NP_003794.3:p.Val22Leu;BaseQRankSum=,0.07;CAF_dbsnp_common_v150_hg19_refseq=,0.872|.|0.128|.;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000018.9:g.3215158C>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_single_submitter;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_003803.3:c.64G>C|_NM_019856.1:c.64G>C;Coding_region_change_in_longest_transcript=,NM_003803.3:c.64G>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1845;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0915;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,45;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,MYOM1:8736;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:8736;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:8736;Genotype=,C/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:7613;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:7613;Homo_sapiens_refseq_GRCh37.p13_Genes=,MYOM1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_019856.1|NM_003803.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene34375;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna50210|rna50211;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:603508;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:603508;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,Yes;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene34375;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,3215158;RS_dbsnp_common_v150_hg19_refseq=,1791085;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,89;Read_coverage=,158;Read_direction_test_probability=,0.9984363247363286;Read_position_test_probability=,0.9117776613157496;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_019856.1|NM_003803.3;Reverse_read_coverage=,113;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1278;SF=12,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.890377|0.000240401|0.109383|.;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128000a05170537000101;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.075;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.144444;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.155556;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.133333;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.984;db_xref=,GeneID:8736|HGNC:HGNC:7613|MIM:603508;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_019856.1|Genbank:NM_003803.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,myomesin_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MYOM1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MYOM1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SKELEMIN;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,myomesin_1|_transcript_variant_2|myomesin_1|_transcript_variant_1;transcript_id=,NM_019856.1|NM_003803.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYOM1:NM_003803:exon2:c.G64C:p.V22L,MYOM1:NM_019856:exon2:c.G64C:p.V22L;cytoBand=18p11.31;genomicSuperDups=.;esp6500siv2_all=0.0969;esp6500siv2_ea=0.0859;esp6500siv2_all=0.0969;esp6500siv2_ea=0.0859;1000g2015aug_all=0.127995;avsnp147=rs1791085;Kaviar_AF=0.0956003;Kaviar_AC=14780;Kaviar_AN=154602;ExAC_ALL=0.1070;ExAC_AFR=0.1309;ExAC_AMR=0.0771;ExAC_EAS=0.1740;ExAC_FIN=0.1010;ExAC_NFE=0.0984;ExAC_OTH=0.1043;ExAC_SAS=0.1158;CLNALLELEID=230905;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.009;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-0.695;MutationAssessor_pred=N;FATHMM_score=1.33;FATHMM_pred=T;PROVEAN_score=0.46;PROVEAN_pred=N;VEST3_score=0.062;CADD_raw=1.149;CADD_phred=11.48;DANN_score=0.637;fathmm-MKL_coding_score=0.119;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.046;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.67;phyloP7way_vertebrate=0.028;phyloP20way_mammalian=0.073;phastCons7way_vertebrate=0.458;phastCons20way_mammalian=0.987;SiPhy_29way_logOdds=9.338;GDI_full_10282015=.;dpsi_max_tissue=-0.2261;dpsi_zscore=-0.735;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0988;gnomAD_exome_AFR=0.1203;gnomAD_exome_AMR=0.0722;gnomAD_exome_ASJ=0.0883;gnomAD_exome_EAS=0.1699;gnomAD_exome_FIN=0.0973;gnomAD_exome_NFE=0.0915;gnomAD_exome_OTH=0.0938;gnomAD_exome_SAS=0.1093;gnomAD_genome_ALL=0.1073;gnomAD_genome_AFR=0.1272;gnomAD_genome_AMR=0.0694;gnomAD_genome_ASJ=0.0960;gnomAD_genome_EAS=0.1782;gnomAD_genome_FIN=0.0962;gnomAD_genome_NFE=0.0930;gnomAD_genome_OTH=0.1082;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . . . . 1:147:0,82 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:138:0,63 18 9117867 9054;rs906807 T C 51.76 . #_unique_end_positions=,14;#_unique_start_positions=,16;AC=25;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7368;ALLELEID_clinvar_20171029_hg19=,24093;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.8026;AN=25;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_066552.2:p.Val29Ala;Amino_acid_change_in_longest_transcript=,NP_066552.2:p.Val29Ala;BaseQRankSum=,0.43;CAF_dbsnp_common_v150_hg19_refseq=,0.221|0.779;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1838867|OMIM:556500|MedGen:C1838979|OMIM:252010|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Parkinson_disease|_mitochondrial|Mitochondrial_complex_I_deficiency|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000018.9:g.9117867T>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_conflicting_interpretations;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:21367|OMIM_Allelic_Variant:600532.0001|UniProtKB_(protein):P19404#VAR_016167;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_021074.4:c.86T>C;Coding_region_change_in_longest_transcript=,NM_021074.4:c.86T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7063;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.8310;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,9;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,NDUFV2:4729;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:4729;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:4729;Genotype=,C/C;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:7717;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:7717;Homo_sapiens_refseq_GRCh37.p13_Genes=,NDUFV2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_021074.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene34437;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna50286;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:600532;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:600532;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;OM_dbsnp_common_v150_hg19_refseq=,OM;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene34437;QUAL=,89.02304541995719;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,9117867;RS_dbsnp_common_v150_hg19_refseq=,906807;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,26;Read_coverage=,26;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_021074.4;Reverse_read_coverage=,17;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.8405;SF=0,3,8,10,11,14,18,20,21,23,24,27,28,31,36,38,40;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.21564|0.78436;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050168000a0517053f110101;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.872881;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.622222;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.693182;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.783333;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.974;db_xref=,GeneID:4729|HGNC:HGNC:7717|MIM:600532;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_021074.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,NADH:ubiquinone_oxidoreductase_core_subunit_V2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,NDUFV2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NDUFV2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CI-24k;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NADH:ubiquinone_oxidoreductase_core_subunit_V2;transcript_id=,NM_021074.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=NDUFV2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=NDUFV2:NM_021074:exon2:c.T86C:p.V29A;cytoBand=18p11.22;genomicSuperDups=.;esp6500siv2_all=0.7995;esp6500siv2_ea=0.8194;esp6500siv2_all=0.7995;esp6500siv2_ea=0.8194;1000g2015aug_all=0.778954;avsnp147=rs906807;Kaviar_AF=0.792913;Kaviar_AC=122586;Kaviar_AN=154602;ExAC_ALL=0.8001;ExAC_AFR=0.7593;ExAC_AMR=0.7611;ExAC_EAS=0.7098;ExAC_FIN=0.7420;ExAC_NFE=0.8157;ExAC_OTH=0.7963;ExAC_SAS=0.8606;CLNALLELEID=24093;CLNDN=Parkinson_disease,_mitochondrial|Mitochondrial_complex_I_deficiency|not_specified;CLNDISDB=MedGen:C1838867,OMIM:556500|MedGen:C1838979,OMIM:252010|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.003;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-1.465;MutationAssessor_pred=N;FATHMM_score=1.02;FATHMM_pred=T;PROVEAN_score=1.38;PROVEAN_pred=N;VEST3_score=0.042;CADD_raw=0.840;CADD_phred=9.708;DANN_score=0.821;fathmm-MKL_coding_score=0.037;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.966;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.731;integrated_confidence_value=0;GERP++_RS=4.67;phyloP7way_vertebrate=0.002;phyloP20way_mammalian=0.040;phastCons7way_vertebrate=0.984;phastCons20way_mammalian=0.747;SiPhy_29way_logOdds=11.855;GDI_full_10282015=.;dpsi_max_tissue=1.5365;dpsi_zscore=1.795;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM983407#"Parkinson_disease_susceptibility_to_association";gnomAD_exome_ALL=0.7980;gnomAD_exome_AFR=0.7551;gnomAD_exome_AMR=0.7493;gnomAD_exome_ASJ=0.8953;gnomAD_exome_EAS=0.7120;gnomAD_exome_FIN=0.7492;gnomAD_exome_NFE=0.8155;gnomAD_exome_OTH=0.8101;gnomAD_exome_SAS=0.8591;gnomAD_genome_ALL=0.7844;gnomAD_genome_AFR=0.7579;gnomAD_genome_AMR=0.7709;gnomAD_genome_ASJ=0.8974;gnomAD_genome_EAS=0.7494;gnomAD_genome_FIN=0.7349;gnomAD_genome_NFE=0.8134;gnomAD_genome_OTH=0.7888;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1/1:20:0,20 . . 1/1:11:0,11 . . . . 1:10:0,4 . 1/1:16:0,16 1/1:16:0,16 . . 1:26:0,17 . . . 1/1:13:0,13 . 1:13:0,3 1:16:0,3 . 1/1:11:0,11 1:11:0,5 . . 1:14:0,4 1:12:0,4 . . 1/1:10:0,10 . . . . 1:14:0,4 . 1/1:16:0,16 . 1:16:0,8 . 18 9119489 129703;rs41274300 A T 167.16 . #_unique_end_positions=,18;#_unique_start_positions=,17;AC=4;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1536;AF_ESP_clinvar_20171029_hg19=,0.1298;AF_EXAC_clinvar_20171029_hg19=,0.08497;AF_TGP_clinvar_20171029_hg19=,0.0751;ALLELEID_clinvar_20171029_hg19=,135149;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0634;AN=4;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.55;CAF_dbsnp_common_v150_hg19_refseq=,0.9249|0.07508;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1838979|OMIM:252010|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Mitochondrial_complex_I_deficiency|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000018.9:g.9119489A>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_single_submitter;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:21381;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_021074.4:c.201A>T;Coding_region_change_in_longest_transcript=,NM_021074.4:c.201A>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0020;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0915;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,13;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,NDUFV2:4729;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:4729;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:4729;Genotype=,A/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:7717;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:7717;Homo_sapiens_refseq_GRCh37.p13_Genes=,NDUFV2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_021074.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene34437;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna50286;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:600532;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:600532;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene34437;QUAL=,143.98287269423716;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,9119489;RS_dbsnp_common_v150_hg19_refseq=,41274300;Read_count=,20;Read_coverage=,40;Read_direction_test_probability=,0.9626124431377289;Read_position_test_probability=,0.6950169164951165;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_021074.4;Reverse_read_coverage=,27;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0358;SF=0,1,25,26;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.878529|0.121471;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050368000305150536100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.323;db_xref=,GeneID:4729|HGNC:HGNC:7717|MIM:600532;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_021074.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,NADH:ubiquinone_oxidoreductase_core_subunit_V2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,NDUFV2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NDUFV2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CI-24k;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NADH:ubiquinone_oxidoreductase_core_subunit_V2;transcript_id=,NM_021074.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=NDUFV2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=NDUFV2:NM_021074:exon4:c.A201T:p.V67V;cytoBand=18p11.22;genomicSuperDups=.;esp6500siv2_all=0.1298;esp6500siv2_ea=0.1129;esp6500siv2_all=0.1298;esp6500siv2_ea=0.1129;1000g2015aug_all=0.0750799;avsnp147=rs41274300;Kaviar_AF=0.0861632;Kaviar_AC=13321;Kaviar_AN=154602;ExAC_ALL=0.0850;ExAC_AFR=0.1575;ExAC_AMR=0.0449;ExAC_EAS=0.0001;ExAC_FIN=0.0363;ExAC_NFE=0.1029;ExAC_OTH=0.0878;ExAC_SAS=0.0605;CLNALLELEID=135149;CLNDN=Mitochondrial_complex_I_deficiency|not_specified;CLNDISDB=MedGen:C1838979,OMIM:252010|MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1755;dpsi_zscore=-0.637;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0828;gnomAD_exome_AFR=0.1562;gnomAD_exome_AMR=0.0501;gnomAD_exome_ASJ=0.1340;gnomAD_exome_EAS=5.802e-05;gnomAD_exome_FIN=0.0376;gnomAD_exome_NFE=0.1060;gnomAD_exome_OTH=0.0842;gnomAD_exome_SAS=0.0603;gnomAD_genome_ALL=0.1037;gnomAD_genome_AFR=0.1603;gnomAD_genome_AMR=0.0635;gnomAD_genome_ASJ=0.1689;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0424;gnomAD_genome_NFE=0.0999;gnomAD_genome_OTH=0.0602;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:38:0,19 1:55:0,21 . . . . . . . . . . . . . . . . . . . . . . . 1:49:0,25 1:60:0,25 . . . . . . . . . . . . . . . 18 9119489 129703;rs41274300 A T 167.16 . #_unique_end_positions=,18;#_unique_start_positions=,17;AC=4;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1536;AF_ESP_clinvar_20171029_hg19=,0.1298;AF_EXAC_clinvar_20171029_hg19=,0.08497;AF_TGP_clinvar_20171029_hg19=,0.0751;ALLELEID_clinvar_20171029_hg19=,135149;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0634;AN=4;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.55;CAF_dbsnp_common_v150_hg19_refseq=,0.9249|0.07508;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1838979|OMIM:252010|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Mitochondrial_complex_I_deficiency|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000018.9:g.9119489A>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_single_submitter;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:21381;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_021074.4:c.201A>T;Coding_region_change_in_longest_transcript=,NM_021074.4:c.201A>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0020;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0915;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,13;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,NDUFV2:4729;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:4729;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:4729;Genotype=,A/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:7717;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:7717;Homo_sapiens_refseq_GRCh37.p13_Genes=,NDUFV2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_021074.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene34437;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna50286;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:600532;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:600532;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene34437;QUAL=,143.98287269423716;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,9119489;RS_dbsnp_common_v150_hg19_refseq=,41274300;Read_count=,20;Read_coverage=,40;Read_direction_test_probability=,0.9626124431377289;Read_position_test_probability=,0.6950169164951165;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_021074.4;Reverse_read_coverage=,27;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0358;SF=0,1,25,26;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.878529|0.121471;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050368000305150536100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.323;db_xref=,GeneID:4729|HGNC:HGNC:7717|MIM:600532;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_021074.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,NADH:ubiquinone_oxidoreductase_core_subunit_V2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,NDUFV2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NDUFV2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CI-24k;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NADH:ubiquinone_oxidoreductase_core_subunit_V2;transcript_id=,NM_021074.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=NDUFV2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=NDUFV2:NM_021074:exon4:c.A201T:p.V67V;cytoBand=18p11.22;genomicSuperDups=.;esp6500siv2_all=0.1298;esp6500siv2_ea=0.1129;esp6500siv2_all=0.1298;esp6500siv2_ea=0.1129;1000g2015aug_all=0.0750799;avsnp147=rs41274300;Kaviar_AF=0.0861632;Kaviar_AC=13321;Kaviar_AN=154602;ExAC_ALL=0.0850;ExAC_AFR=0.1575;ExAC_AMR=0.0449;ExAC_EAS=0.0001;ExAC_FIN=0.0363;ExAC_NFE=0.1029;ExAC_OTH=0.0878;ExAC_SAS=0.0605;CLNALLELEID=135149;CLNDN=Mitochondrial_complex_I_deficiency|not_specified;CLNDISDB=MedGen:C1838979,OMIM:252010|MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1755;dpsi_zscore=-0.637;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0828;gnomAD_exome_AFR=0.1562;gnomAD_exome_AMR=0.0501;gnomAD_exome_ASJ=0.1340;gnomAD_exome_EAS=5.802e-05;gnomAD_exome_FIN=0.0376;gnomAD_exome_NFE=0.1060;gnomAD_exome_OTH=0.0842;gnomAD_exome_SAS=0.0603;gnomAD_genome_ALL=0.1037;gnomAD_genome_AFR=0.1603;gnomAD_genome_AMR=0.0635;gnomAD_genome_ASJ=0.1689;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0424;gnomAD_genome_NFE=0.0999;gnomAD_genome_OTH=0.0602;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:38:0,19 1:55:0,21 . . . . . . . . . . . . . . . . . . . . . . . 1:49:0,25 1:60:0,25 . . . . . . . . . . . . . . . 18 19444588 . C A 91.77 . #_unique_end_positions=,16;#_unique_start_positions=,14;AC=1;AN=1;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;Coding_region_change=,NM_020774.3:c.2982C>A;Coding_region_change_in_longest_transcript=,NM_020774.3:c.2982C>A;Forward_read_coverage=,23;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:57534;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:57534;Genotype=,A/C;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:21086;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:21086;Homo_sapiens_refseq_GRCh37.p13_Genes=,MIB1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_020774.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene34558;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna50408;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:608677;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:608677;Non-synonymous=,No;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene34558;QUAL=,91.76984771362186;Read_count=,17;Read_coverage=,50;Read_direction_test_probability=,0.9954129820760034;Read_position_test_probability=,0.9488914879882256;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_020774.3;Reverse_read_coverage=,27;SF=21;conservation_score=,0.803;db_xref=,GeneID:57534|HGNC:HGNC:21086|MIM:608677;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:06660;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_020774.3|HPRD:06660;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,mindbomb_E3_ubiquitin_protein_ligase_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIB1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIB1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,DIP-1|DIP1|LVNC7|MIB|ZZANK2|ZZZ6;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mindbomb_E3_ubiquitin_protein_ligase_1;transcript_id=,NM_020774.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MIB1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MIB1:NM_020774:exon21:c.C2982A:p.I994I;cytoBand=18q11.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs749928183;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=8.237e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.499e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.061e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=8.954e-06;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . 1:44:0,16 . . . . . . . . . . . . . . . . . . . . 18 28648071 46184;rs61731920 G A 130.68 . #_unique_end_positions=,18;#_unique_start_positions=,12;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0061;AF_ESP_clinvar_20171029_hg19=,0.0023;AF_EXAC_clinvar_20171029_hg19=,0.00061;AF_TGP_clinvar_20171029_hg19=,0.0016;ALLELEID_clinvar_20171029_hg19=,55349;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.9984|0.001597;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1864850|OMIM:610476|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Arrhythmogenic_right_ventricular_cardiomyopathy|_type_11|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000018.9:g.28648071G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_004949.4:c.*118C>T|_NM_024422.4:c.2616C>T;Coding_region_change_in_longest_transcript=,NM_004949.4:c.*118C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,22;GENEINFO_dbsnp_common_v150_hg19_refseq=,DSC2:1824;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:1824;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:1824;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:3036;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:3036;Homo_sapiens_refseq_GRCh37.p13_Genes=,DSC2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_024422.4|NM_004949.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene34637;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna50506|rna50507;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001624|3_prime_UTR_variant|SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:125645;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:125645;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene34637;QUAL=,130.68099045018522;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,28648071;RS_dbsnp_common_v150_hg19_refseq=,61731920;Read_count=,20;Read_coverage=,49;Read_direction_test_probability=,0.7369345027013197;Read_position_test_probability=,0.6470387070391723;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_024422.4|NM_004949.4;Reverse_read_coverage=,27;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=22;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.997733|0.00226664;U3_dbsnp_common_v150_hg19_refseq=,U3;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050028800305040536000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:1824|HGNC:HGNC:3036|MIM:125645;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:00512;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_024422.4|HPRD:00512|Genbank:NM_004949.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,desmocollin_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,DSC2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,DSC2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARVD11|CDHF2|DG2|DGII/III|DSC3;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,desmocollin_2|_transcript_variant_Dsc2a|desmocollin_2|_transcript_variant_Dsc2b;transcript_id=,NM_024422.4|NM_004949.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DSC2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DSC2:NM_024422:exon16:c.C2616T:p.C872C;cytoBand=18q12.1;genomicSuperDups=.;esp6500siv2_all=0.0023;esp6500siv2_ea=0.0001;esp6500siv2_all=0.0023;esp6500siv2_ea=0.0001;1000g2015aug_all=0.00159744;avsnp147=rs61731920;Kaviar_AF=0.0005886;Kaviar_AC=91;Kaviar_AN=154602;ExAC_ALL=0.0006;ExAC_AFR=0.0062;ExAC_AMR=8.645e-05;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0001;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=55349;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy,_type_11|not_specified;CLNDISDB=MedGen:C1864850,OMIM:610476|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0005;gnomAD_exome_AFR=0.0060;gnomAD_exome_AMR=0.0006;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=8.964e-05;gnomAD_exome_OTH=0.0007;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0016;gnomAD_genome_AFR=0.0054;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.67e-05;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . 1:40:0,18 . . . . . . . . . . . . . . . . . . . 18 28648975 36006;rs61731921 C T 200.00 . #_unique_end_positions=,42;#_unique_start_positions=,34;AC=3;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0023;AF_ESP_clinvar_20171029_hg19=,0.0342;AF_EXAC_clinvar_20171029_hg19=,0.04949;AF_TGP_clinvar_20171029_hg19=,0.0276;ALLELEID_clinvar_20171029_hg19=,44670;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0115;AN=3;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_077740.1:p.Arg798Gln|_NP_004940.1:p.Arg798Gln;Amino_acid_change_in_longest_transcript=,NP_004940.1:p.Arg798Gln;BaseQRankSum=,-0.49;CAF_dbsnp_common_v150_hg19_refseq=,0.9724|.|0.02756;CLNDISDB_clinvar_20171029_hg19=,MedGen:C0349788|Orphanet:ORPHA247|SNOMED_CT:253528005|SNOMED_CT:281170005|MedGen:C1864850|OMIM:610476|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNDN_clinvar_20171029_hg19=,Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy|_type_11|not_specified|Cardiovascular_phenotype|Cardiomyopathy|_ARVC;CLNHGVS_clinvar_20171029_hg19=,NC_000018.9:g.28648975C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:100804|UniProtKB_(protein):Q02487#VAR_062392;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_004949.4:c.2393G>A|_NM_024422.4:c.2393G>A;Coding_region_change_in_longest_transcript=,NM_004949.4:c.2393G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0020;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0646;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,62;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,DSC2:1824;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:1824;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:1824;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:3036;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:3036;Homo_sapiens_refseq_GRCh37.p13_Genes=,DSC2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_024422.4|NM_004949.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene34637;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna50506|rna50507;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:125645;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:125645;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene34637;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,28648975;RS_dbsnp_common_v150_hg19_refseq=,61731921;Read_count=,52;Read_coverage=,98;Read_direction_test_probability=,0.9943902013691855;Read_position_test_probability=,0.8673140513068054;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_024422.4|NM_004949.4;Reverse_read_coverage=,36;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0613;SF=7,12,32;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.969297|.|0.0307027;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050168000a05150536100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.0;db_xref=,GeneID:1824|HGNC:HGNC:3036|MIM:125645;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:00512;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_024422.4|HPRD:00512|Genbank:NM_004949.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,desmocollin_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,DSC2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,DSC2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARVD11|CDHF2|DG2|DGII/III|DSC3;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,desmocollin_2|_transcript_variant_Dsc2a|desmocollin_2|_transcript_variant_Dsc2b;transcript_id=,NM_024422.4|NM_004949.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DSC2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DSC2:NM_004949:exon15:c.G2393A:p.R798Q,DSC2:NM_024422:exon15:c.G2393A:p.R798Q;cytoBand=18q12.1;genomicSuperDups=.;esp6500siv2_all=0.0342;esp6500siv2_ea=0.0452;esp6500siv2_all=0.0342;esp6500siv2_ea=0.0452;1000g2015aug_all=0.0275559;avsnp147=rs61731921;Kaviar_AF=0.0472762;Kaviar_AC=7309;Kaviar_AN=154602;ExAC_ALL=0.0495;ExAC_AFR=0.0074;ExAC_AMR=0.0156;ExAC_EAS=0.0010;ExAC_FIN=0.1191;ExAC_NFE=0.0540;ExAC_OTH=0.0716;ExAC_SAS=0.0781;CLNALLELEID=44670;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_11|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1864850,OMIM:610476|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.159;SIFT_pred=T;Polyphen2_HDIV_score=0.011;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.009;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=1.15;MutationAssessor_pred=L;FATHMM_score=0.32;FATHMM_pred=T;PROVEAN_score=-0.77;PROVEAN_pred=N;VEST3_score=0.042;CADD_raw=0.324;CADD_phred=5.922;DANN_score=0.888;fathmm-MKL_coding_score=0.015;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.977;MetaSVM_pred=T;MetaLR_score=0.051;MetaLR_pred=T;integrated_fitCons_score=0.706;integrated_confidence_value=0;GERP++_RS=-5.21;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=-1.160;phastCons7way_vertebrate=0.041;phastCons20way_mammalian=0.000;SiPhy_29way_logOdds=15.866;GDI_full_10282015=.;dpsi_max_tissue=-0.1404;dpsi_zscore=-0.558;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0481;gnomAD_exome_AFR=0.0075;gnomAD_exome_AMR=0.0121;gnomAD_exome_ASJ=0.0279;gnomAD_exome_EAS=0.0006;gnomAD_exome_FIN=0.1185;gnomAD_exome_NFE=0.0517;gnomAD_exome_OTH=0.0476;gnomAD_exome_SAS=0.0770;gnomAD_genome_ALL=0.0442;gnomAD_genome_AFR=0.0077;gnomAD_genome_AMR=0.0144;gnomAD_genome_ASJ=0.0232;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.1216;gnomAD_genome_NFE=0.0521;gnomAD_genome_OTH=0.0789;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . 1:91:0,48 . . . . 1:145:0,66 . . . . . . . . . . . . . . . . . . . 1:131:0,58 . . . . . . . . . 18 28649042 46178;rs1893963 T C 200.00 . #_unique_end_positions=,39;#_unique_start_positions=,31;AC=3;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4720;AF_ESP_clinvar_20171029_hg19=,0.1912;AF_EXAC_clinvar_20171029_hg19=,0.11901;AF_TGP_clinvar_20171029_hg19=,0.1965;ALLELEID_clinvar_20171029_hg19=,55343;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1787;AN=3;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_004940.1:p.Ile776Val|_NP_077740.1:p.Ile776Val;Amino_acid_change_in_longest_transcript=,NP_004940.1:p.Ile776Val;BaseQRankSum=,0.35;CAF_dbsnp_common_v150_hg19_refseq=,0.8035|0.1965;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNDN_clinvar_20171029_hg19=,not_specified|Cardiovascular_phenotype|Cardiomyopathy|_ARVC;CLNHGVS_clinvar_20171029_hg19=,NC_000018.9:g.28649042T>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:69413|UniProtKB_(protein):Q02487#VAR_024388;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_004949.4:c.2326A>G|_NM_024422.4:c.2326A>G;Coding_region_change_in_longest_transcript=,NM_004949.4:c.2326A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0784;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0994;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,58;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,DSC2:1824;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:1824;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:1824;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:3036;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:3036;Homo_sapiens_refseq_GRCh37.p13_Genes=,DSC2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_024422.4|NM_004949.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene34637;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna50506|rna50507;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:125645;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:125645;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene34637;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,28649042;RS_dbsnp_common_v150_hg19_refseq=,1893963;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,69;Read_coverage=,129;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.807441330106067;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_024422.4|NM_004949.4;Reverse_read_coverage=,71;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0583;SF=22,23,38;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.767051|0.232949;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128000a0515053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.438776;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.075;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.0487805;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.077381;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.0625;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.155556;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0888889;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.466667;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.18;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.381119;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.0738636;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.416667;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.523;db_xref=,GeneID:1824|HGNC:HGNC:3036|MIM:125645;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:00512;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_024422.4|HPRD:00512|Genbank:NM_004949.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,desmocollin_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,DSC2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,DSC2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARVD11|CDHF2|DG2|DGII/III|DSC3;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,desmocollin_2|_transcript_variant_Dsc2a|desmocollin_2|_transcript_variant_Dsc2b;transcript_id=,NM_024422.4|NM_004949.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DSC2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DSC2:NM_004949:exon15:c.A2326G:p.I776V,DSC2:NM_024422:exon15:c.A2326G:p.I776V;cytoBand=18q12.1;genomicSuperDups=.;esp6500siv2_all=0.1912;esp6500siv2_ea=0.0837;esp6500siv2_all=0.1912;esp6500siv2_ea=0.0837;1000g2015aug_all=0.196486;avsnp147=rs1893963;Kaviar_AF=0.118148;Kaviar_AC=18266;Kaviar_AN=154602;ExAC_ALL=0.1190;ExAC_AFR=0.4196;ExAC_AMR=0.1784;ExAC_EAS=0.0968;ExAC_FIN=0.0593;ExAC_NFE=0.0842;ExAC_OTH=0.0993;ExAC_SAS=0.0654;CLNALLELEID=55343;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy,_type_11|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1864850,OMIM:610476|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_pred=B;LRT_score=0.155;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.54;MutationAssessor_pred=N;FATHMM_score=0.46;FATHMM_pred=T;PROVEAN_score=0.18;PROVEAN_pred=N;VEST3_score=0.01;CADD_raw=-1.683;CADD_phred=0.002;DANN_score=0.586;fathmm-MKL_coding_score=0.002;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.925;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.706;integrated_confidence_value=0;GERP++_RS=3.69;phyloP7way_vertebrate=0.002;phyloP20way_mammalian=-0.324;phastCons7way_vertebrate=0.571;phastCons20way_mammalian=0.003;SiPhy_29way_logOdds=10.511;GDI_full_10282015=.;dpsi_max_tissue=-0.0787;dpsi_zscore=-0.380;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM150230#"Arrhythmogenic_right_ventricular_cardiomyopathy";gnomAD_exome_ALL=0.1148;gnomAD_exome_AFR=0.4181;gnomAD_exome_AMR=0.1760;gnomAD_exome_ASJ=0.1013;gnomAD_exome_EAS=0.1004;gnomAD_exome_FIN=0.0590;gnomAD_exome_NFE=0.0837;gnomAD_exome_OTH=0.0961;gnomAD_exome_SAS=0.0665;gnomAD_genome_ALL=0.1712;gnomAD_genome_AFR=0.3981;gnomAD_genome_AMR=0.1671;gnomAD_genome_ASJ=0.1060;gnomAD_genome_EAS=0.1047;gnomAD_genome_FIN=0.0570;gnomAD_genome_NFE=0.0794;gnomAD_genome_OTH=0.0996;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . 1:107:0,55 1:129:0,71 . . . . . . . . . . . . . . 1:101:0,48 . . . 18 28672067 46188;rs117812913 T C 146.54 . #_unique_end_positions=,18;#_unique_start_positions=,13;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0082;AF_EXAC_clinvar_20171029_hg19=,0.00883;AF_TGP_clinvar_20171029_hg19=,0.0038;ALLELEID_clinvar_20171029_hg19=,55353;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.9962|0.003794;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1864850|OMIM:610476|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNDN_clinvar_20171029_hg19=,Arrhythmogenic_right_ventricular_cardiomyopathy|_type_11|not_specified|Cardiovascular_phenotype|Cardiomyopathy|_ARVC;CLNHGVS_clinvar_20171029_hg19=,NC_000018.9:g.28672067T>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_conflicting_interpretations;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:90218;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_004949.4:c.351A>G|_NM_024422.4:c.351A>G;Coding_region_change_in_longest_transcript=,NM_004949.4:c.351A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0179;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,25;GENEINFO_dbsnp_common_v150_hg19_refseq=,DSC2:1824;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:1824;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:1824;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:3036;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:3036;Homo_sapiens_refseq_GRCh37.p13_Genes=,DSC2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_024422.4|NM_004949.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene34637;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna50506|rna50507;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:125645;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:125645;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene34637;QUAL=,146.53559774527022;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,28672067;RS_dbsnp_common_v150_hg19_refseq=,117812913;Read_count=,21;Read_coverage=,44;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9339940205047622;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_024422.4|NM_004949.4;Reverse_read_coverage=,19;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;SF=28;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.996085|0.0039151;U5_dbsnp_common_v150_hg19_refseq=,U5;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128400305040436000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.669;db_xref=,GeneID:1824|HGNC:HGNC:3036|MIM:125645;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:00512;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_024422.4|HPRD:00512|Genbank:NM_004949.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,desmocollin_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,DSC2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,DSC2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARVD11|CDHF2|DG2|DGII/III|DSC3;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,desmocollin_2|_transcript_variant_Dsc2a|desmocollin_2|_transcript_variant_Dsc2b;transcript_id=,NM_024422.4|NM_004949.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DSC2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DSC2:NM_004949:exon3:c.A351G:p.T117T,DSC2:NM_024422:exon3:c.A351G:p.T117T;cytoBand=18q12.1;genomicSuperDups=.;esp6500siv2_all=0.0082;esp6500siv2_ea=0.0117;esp6500siv2_all=0.0082;esp6500siv2_ea=0.0117;1000g2015aug_all=0.00379393;avsnp147=rs117812913;Kaviar_AF=0.0087386;Kaviar_AC=1351;Kaviar_AN=154602;ExAC_ALL=0.0088;ExAC_AFR=0.0018;ExAC_AMR=0.0028;ExAC_EAS=0;ExAC_FIN=0.0187;ExAC_NFE=0.0127;ExAC_OTH=0.0066;ExAC_SAS=0.0025;CLNALLELEID=55353;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy,_type_11|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1864850,OMIM:610476|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.3412;dpsi_zscore=0.948;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0084;gnomAD_exome_AFR=0.0018;gnomAD_exome_AMR=0.0027;gnomAD_exome_ASJ=0.0010;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0190;gnomAD_exome_NFE=0.0125;gnomAD_exome_OTH=0.0086;gnomAD_exome_SAS=0.0024;gnomAD_genome_ALL=0.0101;gnomAD_genome_AFR=0.0010;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0169;gnomAD_genome_NFE=0.0151;gnomAD_genome_OTH=0.0153;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:38:0,19 . . . . . . . . . . . . . 18 28673565 46163;rs12954874 T C 47.06 . #_unique_end_positions=,20;#_unique_start_positions=,19;AC=9;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0840;AF_ESP_clinvar_20171029_hg19=,0.1071;AF_EXAC_clinvar_20171029_hg19=,0.11273;AF_TGP_clinvar_20171029_hg19=,0.1236;ALLELEID_clinvar_20171029_hg19=,55328;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1643;AN=9;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.8764|0.1236;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNDN_clinvar_20171029_hg19=,not_specified|Cardiovascular_phenotype|Cardiomyopathy|_ARVC;CLNHGVS_clinvar_20171029_hg19=,NC_000018.9:g.28673565T>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:21561;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_004949.4:c.111A>G|_NM_024422.4:c.111A>G;Coding_region_change_in_longest_transcript=,NM_004949.4:c.111A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1399;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1014;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,15;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,DSC2:1824;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:1824;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:1824;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:3036;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:3036;Homo_sapiens_refseq_GRCh37.p13_Genes=,DSC2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_024422.4|NM_004949.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene34637;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna50506|rna50507;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:125645;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:125645;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene34637;QUAL=,46.261924102493154;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,28673565;RS_dbsnp_common_v150_hg19_refseq=,12954874;Read_count=,21;Read_coverage=,30;Read_direction_test_probability=,0.9863268316892857;Read_position_test_probability=,0.8485980198758698;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_024422.4|NM_004949.4;Reverse_read_coverage=,15;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1544;SF=0,2,4,19,24,27,29,37,39;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.901985|0.098015;U5_dbsnp_common_v150_hg19_refseq=,U5;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05012840030517053e000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.0;db_xref=,GeneID:1824|HGNC:HGNC:3036|MIM:125645;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:00512;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_024422.4|HPRD:00512|Genbank:NM_004949.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,desmocollin_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,DSC2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,DSC2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ARVD11|CDHF2|DG2|DGII/III|DSC3;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,desmocollin_2|_transcript_variant_Dsc2a|desmocollin_2|_transcript_variant_Dsc2b;transcript_id=,NM_024422.4|NM_004949.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DSC2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DSC2:NM_004949:exon2:c.A111G:p.L37L,DSC2:NM_024422:exon2:c.A111G:p.L37L;cytoBand=18q12.1;genomicSuperDups=.;esp6500siv2_all=0.1071;esp6500siv2_ea=0.1210;esp6500siv2_all=0.1071;esp6500siv2_ea=0.1210;1000g2015aug_all=0.123602;avsnp147=rs12954874;Kaviar_AF=0.113071;Kaviar_AC=17481;Kaviar_AN=154602;ExAC_ALL=0.1127;ExAC_AFR=0.0818;ExAC_AMR=0.1652;ExAC_EAS=0.1332;ExAC_FIN=0.0425;ExAC_NFE=0.1111;ExAC_OTH=0.0806;ExAC_SAS=0.1210;CLNALLELEID=55328;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy,_type_11|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1864850,OMIM:610476|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.1416;dpsi_zscore=-1.550;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1145;gnomAD_exome_AFR=0.0807;gnomAD_exome_AMR=0.1624;gnomAD_exome_ASJ=0.1418;gnomAD_exome_EAS=0.1304;gnomAD_exome_FIN=0.0385;gnomAD_exome_NFE=0.1129;gnomAD_exome_OTH=0.1188;gnomAD_exome_SAS=0.1219;gnomAD_genome_ALL=0.0998;gnomAD_genome_AFR=0.0819;gnomAD_genome_AMR=0.1541;gnomAD_genome_ASJ=0.1424;gnomAD_genome_EAS=0.1166;gnomAD_genome_FIN=0.0370;gnomAD_genome_NFE=0.1185;gnomAD_genome_OTH=0.1063;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:29:0,20 . 1:11:0,8 . 1:16:0,5 . . . . . . . . . . . . . . 1:12:0,7 . . . . 1:17:0,11 . . 1:28:0,14 . 1:13:0,4 . . . . . . . 1:18:0,10 . 1:14:0,5 . . 18 29104503 246651 T A 124.02 . #_unique_end_positions=,15;#_unique_start_positions=,13;AC=1;AF_ESP_clinvar_20171029_hg19=,0.0002;AF_EXAC_clinvar_20171029_hg19=,0.00008;ALLELEID_clinvar_20171029_hg19=,245259;AN=1;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.19;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1857777|OMIM:610193;CLNDN_clinvar_20171029_hg19=,Arrhythmogenic_right_ventricular_cardiomyopathy|_type_10;CLNHGVS_clinvar_20171029_hg19=,NC_000018.9:g.29104503T>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_single_submitter;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;Coding_region_change=,NM_001943.4:c.783T>A;Coding_region_change_in_longest_transcript=,NM_001943.4:c.783T>A;Exact_match=,clinvar_20171029_hg19;Forward_read_coverage=,28;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:1829;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:1829;Genotype=,A/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:3049;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:3049;Homo_sapiens_refseq_GRCh37.p13_Genes=,DSG2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001943.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene34645;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna50517;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:125671;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:125671;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene34645;QUAL=,124.01678319974495;Read_count=,23;Read_coverage=,57;Read_direction_test_probability=,0.903389583651454;Read_position_test_probability=,0.8138271167643184;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001943.4;Reverse_read_coverage=,29;SF=39;conservation_score=,0.908;db_xref=,GeneID:1829|HGNC:HGNC:3049|MIM:125671;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001943.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,desmoglein_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,DSG2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,DSG2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CDHF5|HDGC;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,desmoglein_2;transcript_id=,NM_001943.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DSG2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DSG2:NM_001943:exon7:c.T783A:p.R261R;cytoBand=18q12.1;genomicSuperDups=.;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;1000g2015aug_all=.;avsnp147=rs369869320;Kaviar_AF=7.12e-05;Kaviar_AC=11;Kaviar_AN=154602;ExAC_ALL=8.334e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0002;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=245259;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy,_type_10;CLNDISDB=MedGen:C1857777,OMIM:610193;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.4973;dpsi_zscore=-1.089;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0001;gnomAD_exome_AFR=0;gnomAD_exome_AMR=8.939e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=4.486e-05;gnomAD_exome_NFE=0.0003;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=9.682e-05;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0001;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:51:0,20 . . 18 29104698 44329;rs2230233 C T 145.53 . #_unique_end_positions=,28;#_unique_start_positions=,23;AC=25;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.8578;AF_EXAC_clinvar_20171029_hg19=,0.41164;ALLELEID_clinvar_20171029_hg19=,53496;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4150;AN=25;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.38;CAF_dbsnp_common_v150_hg19_refseq=,0.4734|0.5266;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374|MedGen:CN230736|MedGen:CN239181|MedGen:CN239310;CLNDN_clinvar_20171029_hg19=,not_specified|Cardiovascular_phenotype|Cardiomyopathy|_ARVC|Dilated_Cardiomyopathy|_Dominant;CLNHGVS_clinvar_20171029_hg19=,NC_000018.9:g.29104698C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:21599;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001943.4:c.861C>T;Coding_region_change_in_longest_transcript=,NM_001943.4:c.861C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5020;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3757;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,23;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,DSG2:1829;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:1829;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:1829;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:3049;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:3049;Homo_sapiens_refseq_GRCh37.p13_Genes=,DSG2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001943.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene34645;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna50517;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:125671;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:125671;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene34645;QUAL=,133.9588119965784;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,29104698;RS_dbsnp_common_v150_hg19_refseq=,2230233;Read_count=,36;Read_coverage=,59;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9941637741920025;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001943.4;Reverse_read_coverage=,36;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3384;SF=0,3,5,6,9,12,14,17,20,22,23,24,25,26,27,29,32,34,37,38,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.434405|0.565595;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05032800030517053f000101;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.765306;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.380531;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.512195;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.458824;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.380682;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.406977;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.598837;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.844444;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.5;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.681818;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.329545;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.876106;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.971;db_xref=,GeneID:1829|HGNC:HGNC:3049|MIM:125671;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001943.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,desmoglein_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,DSG2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,DSG2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CDHF5|HDGC;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,desmoglein_2;transcript_id=,NM_001943.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DSG2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DSG2:NM_001943:exon8:c.C861T:p.N287N;cytoBand=18q12.1;genomicSuperDups=.;esp6500siv2_all=0.5059;esp6500siv2_ea=0.3787;esp6500siv2_all=0.5059;esp6500siv2_ea=0.3787;1000g2015aug_all=0.526558;avsnp147=rs2230233;Kaviar_AF=0.408766;Kaviar_AC=63196;Kaviar_AN=154602;ExAC_ALL=0.4116;ExAC_AFR=0.8002;ExAC_AMR=0.4009;ExAC_EAS=0.4927;ExAC_FIN=0.4107;ExAC_NFE=0.3687;ExAC_OTH=0.3789;ExAC_SAS=0.3219;CLNALLELEID=53496;CLNDN=not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN239181|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0300;dpsi_zscore=0.196;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.4077;gnomAD_exome_AFR=0.8037;gnomAD_exome_AMR=0.4123;gnomAD_exome_ASJ=0.3189;gnomAD_exome_EAS=0.4905;gnomAD_exome_FIN=0.4102;gnomAD_exome_NFE=0.3718;gnomAD_exome_OTH=0.3754;gnomAD_exome_SAS=0.3217;gnomAD_genome_ALL=0.5053;gnomAD_genome_AFR=0.7865;gnomAD_genome_AMR=0.4665;gnomAD_genome_ASJ=0.3311;gnomAD_genome_EAS=0.4920;gnomAD_genome_FIN=0.4029;gnomAD_genome_NFE=0.3792;gnomAD_genome_OTH=0.4020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 1:53:0,32 . . 1:43:0,19 . 1:34:0,9 1/1:14:0,14 . . 1:59:0,20 . . 1:59:0,24 . 1:54:0,28 . . 1:45:0,22 . . 1:85:0,36 . 1:58:0,25 1:61:0,25 1:45:0,26 1/1:37:0,37 1:62:0,34 1:61:0,26 . 1:61:0,34 . . 1:39:0,18 . 1:70:0,25 . . 1:56:0,34 1:37:0,17 1:55:0,18 1:66:0,28 1:46:0,11 18 29104714 44331;rs2230234 A G 155.89 . #_unique_end_positions=,15;#_unique_start_positions=,14;AC=13;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0030;AF_ESP_clinvar_20171029_hg19=,0.0636;AF_EXAC_clinvar_20171029_hg19=,0.06867;AF_TGP_clinvar_20171029_hg19=,0.0324;ALLELEID_clinvar_20171029_hg19=,53498;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0360;AN=13;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001934.2:p.Ile293Val;Amino_acid_change_in_longest_transcript=,NP_001934.2:p.Ile293Val;BaseQRankSum=,0.14;CAF_dbsnp_common_v150_hg19_refseq=,0.9677|0.03235|.;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374|MedGen:CN230736|MedGen:CN239181|MedGen:CN239310;CLNDN_clinvar_20171029_hg19=,not_specified|Cardiovascular_phenotype|Cardiomyopathy|_ARVC|Dilated_Cardiomyopathy|_Dominant;CLNHGVS_clinvar_20171029_hg19=,NC_000018.9:g.29104714A>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:21617|UniProtKB_(protein):Q14126#VAR_048509;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001943.4:c.877A>G;Coding_region_change_in_longest_transcript=,NM_001943.4:c.877A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0954;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,31;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,DSG2:1829;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:1829;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:1829;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:3049;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:3049;Homo_sapiens_refseq_GRCh37.p13_Genes=,DSG2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001943.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene34645;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna50517;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:125671;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:125671;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene34645;QUAL=,49.18933995150638;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,29104714;RS_dbsnp_common_v150_hg19_refseq=,2230234;Read_count=,16;Read_coverage=,66;Read_direction_test_probability=,0.9999937461108627;Read_position_test_probability=,0.4374951027992511;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001943.4;Reverse_read_coverage=,35;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0368;SF=2,7,8,10,14,17,18,19,21,32,33,35,36;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.942888|0.0571124|.;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050368000a0515053f100101;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.0102041;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.116667;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.0121951;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.0625;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.00568182;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.0306122;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.013986;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.0977011;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:1829|HGNC:HGNC:3049|MIM:125671;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001943.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,desmoglein_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,DSG2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,DSG2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CDHF5|HDGC;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,desmoglein_2;transcript_id=,NM_001943.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DSG2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DSG2:NM_001943:exon8:c.A877G:p.I293V;cytoBand=18q12.1;genomicSuperDups=.;esp6500siv2_all=0.0636;esp6500siv2_ea=0.0859;esp6500siv2_all=0.0636;esp6500siv2_ea=0.0859;1000g2015aug_all=0.0323482;avsnp147=rs2230234;Kaviar_AF=0.0683626;Kaviar_AC=10569;Kaviar_AN=154602;ExAC_ALL=0.0687;ExAC_AFR=0.0150;ExAC_AMR=0.0408;ExAC_EAS=0.0002;ExAC_FIN=0.1450;ExAC_NFE=0.0887;ExAC_OTH=0.0889;ExAC_SAS=0.0433;CLNALLELEID=53498;CLNDN=not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN239181|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.025;SIFT_pred=D;Polyphen2_HDIV_score=0.99;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.871;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.073;MutationTaster_pred=P;MutationAssessor_score=1.075;MutationAssessor_pred=L;FATHMM_score=0.98;FATHMM_pred=T;PROVEAN_score=-0.87;PROVEAN_pred=N;VEST3_score=0.086;CADD_raw=3.997;CADD_phred=23.6;DANN_score=0.998;fathmm-MKL_coding_score=0.936;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.048;MetaSVM_pred=T;MetaLR_score=0.007;MetaLR_pred=T;integrated_fitCons_score=0.732;integrated_confidence_value=0;GERP++_RS=5.35;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.199;phastCons7way_vertebrate=0.853;phastCons20way_mammalian=0.949;SiPhy_29way_logOdds=12.080;GDI_full_10282015=.;dpsi_max_tissue=0.2516;dpsi_zscore=0.816;hgmdCODING=HGMD::Cardiomyopathy,_arrhythmogenic_right_ventricular#24125834;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM1312995#"Cardiomyopathy_arrhythmogenic_right_ventricular";gnomAD_exome_ALL=0.0692;gnomAD_exome_AFR=0.0129;gnomAD_exome_AMR=0.0390;gnomAD_exome_ASJ=0.0763;gnomAD_exome_EAS=0.0003;gnomAD_exome_FIN=0.1455;gnomAD_exome_NFE=0.0869;gnomAD_exome_OTH=0.0816;gnomAD_exome_SAS=0.0448;gnomAD_genome_ALL=0.0710;gnomAD_genome_AFR=0.0125;gnomAD_genome_AMR=0.0525;gnomAD_genome_ASJ=0.0828;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.1514;gnomAD_genome_NFE=0.0929;gnomAD_genome_OTH=0.0969;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 . . 1:56:0,15 . . . . 1:38:0,22 1:82:0,39 . 1:57:0,27 . . . 1:66:0,30 . . 1:56:0,27 1:51:0,22 1:42:0,14 . 1:76:0,30 . . . . . . . . . . 1:48:0,23 1:32:0,9 . 1:61:0,26 1:64:0,29 . . . . . 18 29122618 44295;rs79241126 G A 200.00 . #_unique_end_positions=,31;#_unique_start_positions=,24;AC=2;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0015;AF_ESP_clinvar_20171029_hg19=,0.0584;AF_EXAC_clinvar_20171029_hg19=,0.05186;AF_TGP_clinvar_20171029_hg19=,0.0260;ALLELEID_clinvar_20171029_hg19=,53462;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0432;AN=2;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001934.2:p.Glu713Lys;Amino_acid_change_in_longest_transcript=,NP_001934.2:p.Glu713Lys;BaseQRankSum=,0.17;CAF_dbsnp_common_v150_hg19_refseq=,0.974|0.02596;CLNDISDB_clinvar_20171029_hg19=,MedGen:C0349788|Orphanet:ORPHA247|SNOMED_CT:253528005|SNOMED_CT:281170005|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNDN_clinvar_20171029_hg19=,Arrhythmogenic_right_ventricular_cardiomyopathy|not_specified|Cardiovascular_phenotype|Cardiomyopathy|_ARVC;CLNHGVS_clinvar_20171029_hg19=,NC_000018.9:g.29122618G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:21610|UniProtKB_(protein):Q14126#VAR_062389;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001943.4:c.2137G>A;Coding_region_change_in_longest_transcript=,NM_001943.4:c.2137G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0885;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,45;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,DSG2-AS1:100652770|DSG2:1829;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:1829|GeneID:100652770;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:1829;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:3049|HGNC:HGNC:51311;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:3049;Homo_sapiens_refseq_GRCh37.p13_Genes=,DSG2|DSG2-AS1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001943.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene34645|gene34646;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna50517;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:125671;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:125671;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene34645;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,29122618;RS_dbsnp_common_v150_hg19_refseq=,79241126;Read_count=,45;Read_coverage=,100;Read_direction_test_probability=,0.9732875739126831;Read_position_test_probability=,0.9844262535222645;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001943.4;Reverse_read_coverage=,55;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0092;SF=25,34;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.956213|0.0437873;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050028080a05150436000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.017;db_xref=,GeneID:1829|HGNC:HGNC:3049|MIM:125671|GeneID:100652770|HGNC:HGNC:51311;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001943.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,desmoglein_2|DSG2_antisense_RNA_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,DSG2|DSG2-AS1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,DSG2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding|lncRNA;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CDHF5|HDGC;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,desmoglein_2;transcript_id=,NM_001943.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DSG2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DSG2:NM_001943:exon14:c.G2137A:p.E713K;cytoBand=18q12.1;genomicSuperDups=.;esp6500siv2_all=0.0584;esp6500siv2_ea=0.0777;esp6500siv2_all=0.0584;esp6500siv2_ea=0.0777;1000g2015aug_all=0.0259585;avsnp147=rs79241126;Kaviar_AF=0.0534728;Kaviar_AC=8267;Kaviar_AN=154602;ExAC_ALL=0.0519;ExAC_AFR=0.0125;ExAC_AMR=0.0264;ExAC_EAS=0.0001;ExAC_FIN=0.0953;ExAC_NFE=0.0739;ExAC_OTH=0.0556;ExAC_SAS=0.0135;CLNALLELEID=53462;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.109;SIFT_pred=T;Polyphen2_HDIV_score=0.913;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.129;Polyphen2_HVAR_pred=B;LRT_score=0.050;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0.55;MutationAssessor_pred=N;FATHMM_score=0.21;FATHMM_pred=T;PROVEAN_score=-1.09;PROVEAN_pred=N;VEST3_score=0.117;CADD_raw=1.194;CADD_phred=11.71;DANN_score=0.979;fathmm-MKL_coding_score=0.044;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.097;MetaSVM_pred=T;MetaLR_score=0.004;MetaLR_pred=T;integrated_fitCons_score=0.719;integrated_confidence_value=0;GERP++_RS=3.21;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.045;phastCons7way_vertebrate=0.236;phastCons20way_mammalian=0.146;SiPhy_29way_logOdds=7.777;GDI_full_10282015=.;dpsi_max_tissue=-0.0909;dpsi_zscore=-0.421;hgmdCODING=HGMD::Cardiomyopathy,_arrhythmogenic_right_ventricular#16774985;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM068260#"Cardiomyopathy_arrhythmogenic_right_ventricular";gnomAD_exome_ALL=0.0531;gnomAD_exome_AFR=0.0116;gnomAD_exome_AMR=0.0312;gnomAD_exome_ASJ=0.0587;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0.0991;gnomAD_exome_NFE=0.0748;gnomAD_exome_OTH=0.0564;gnomAD_exome_SAS=0.0130;gnomAD_genome_ALL=0.0599;gnomAD_genome_AFR=0.0139;gnomAD_genome_AMR=0.0467;gnomAD_genome_ASJ=0.0567;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.1013;gnomAD_genome_NFE=0.0842;gnomAD_genome_OTH=0.0603;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . 1:96:0,45 . . . . . . . . 1:119:0,51 . . . . . . . 18 29122692 44297;rs74578148 C T 200.00 . #_unique_end_positions=,39;#_unique_start_positions=,28;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0121;AF_ESP_clinvar_20171029_hg19=,0.0028;AF_EXAC_clinvar_20171029_hg19=,0.00083;AF_TGP_clinvar_20171029_hg19=,0.0032;ALLELEID_clinvar_20171029_hg19=,53464;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.26;CAF_dbsnp_common_v150_hg19_refseq=,0.9968|0.003195;CLNDISDB_clinvar_20171029_hg19=,MedGen:C1857777|OMIM:610193|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Arrhythmogenic_right_ventricular_cardiomyopathy|_type_10|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000018.9:g.29122692C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001943.4:c.2211C>T;Coding_region_change_in_longest_transcript=,NM_001943.4:c.2211C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,41;GENEINFO_dbsnp_common_v150_hg19_refseq=,DSG2-AS1:100652770|DSG2:1829;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:1829|GeneID:100652770;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:1829;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:3049|HGNC:HGNC:51311;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:3049;Homo_sapiens_refseq_GRCh37.p13_Genes=,DSG2|DSG2-AS1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001943.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene34645|gene34646;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna50517;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:125671;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:125671;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene34645;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,29122692;RS_dbsnp_common_v150_hg19_refseq=,74578148;Read_count=,64;Read_coverage=,149;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.3736082746849029;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001943.4;Reverse_read_coverage=,108;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=24;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.996222|0.00377773;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128080305040436000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.002;db_xref=,GeneID:1829|HGNC:HGNC:3049|MIM:125671|GeneID:100652770|HGNC:HGNC:51311;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001943.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,desmoglein_2|DSG2_antisense_RNA_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,DSG2|DSG2-AS1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,DSG2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding|lncRNA;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CDHF5|HDGC;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,desmoglein_2;transcript_id=,NM_001943.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DSG2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DSG2:NM_001943:exon14:c.C2211T:p.G737G;cytoBand=18q12.1;genomicSuperDups=.;esp6500siv2_all=0.0028;esp6500siv2_ea=0.0001;esp6500siv2_all=0.0028;esp6500siv2_ea=0.0001;1000g2015aug_all=0.00319489;avsnp147=rs74578148;Kaviar_AF=0.0007762;Kaviar_AC=120;Kaviar_AN=154602;ExAC_ALL=0.0008;ExAC_AFR=0.0091;ExAC_AMR=0.0005;ExAC_EAS=0.0001;ExAC_FIN=0;ExAC_NFE=4.496e-05;ExAC_OTH=0.0011;ExAC_SAS=0;CLNALLELEID=53464;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy,_type_10|not_specified;CLNDISDB=MedGen:C1857777,OMIM:610193|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0919;dpsi_zscore=-0.424;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0006;gnomAD_exome_AFR=0.0086;gnomAD_exome_AMR=0.0004;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=5.798e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=3.585e-05;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0032;gnomAD_genome_AFR=0.0110;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.663e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . 1:137:0,60 . . . . . . . . . . . . . . . . . 18 29122696 . A T 200.00 . #_unique_end_positions=,28;#_unique_start_positions=,29;AC=1;AN=1;Amino_acid_change=,NP_001934.2:p.Ile739Phe;Amino_acid_change_in_longest_transcript=,NP_001934.2:p.Ile739Phe;BaseQRankSum=,0.17;Coding_region_change=,NM_001943.4:c.2215A>T;Coding_region_change_in_longest_transcript=,NM_001943.4:c.2215A>T;Forward_read_coverage=,33;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:1829|GeneID:100652770;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:1829;Genotype=,A/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:3049|HGNC:HGNC:51311;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:3049;Homo_sapiens_refseq_GRCh37.p13_Genes=,DSG2|DSG2-AS1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001943.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene34645|gene34646;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna50517;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:125671;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:125671;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene34645;QUAL=,200.0;Read_count=,53;Read_coverage=,106;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9489578584832463;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001943.4;Reverse_read_coverage=,73;SF=25;conservation_score=,0.0;db_xref=,GeneID:1829|HGNC:HGNC:3049|MIM:125671|GeneID:100652770|HGNC:HGNC:51311;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001943.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,desmoglein_2|DSG2_antisense_RNA_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,DSG2|DSG2-AS1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,DSG2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding|lncRNA;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CDHF5|HDGC;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,desmoglein_2;transcript_id=,NM_001943.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DSG2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DSG2:NM_001943:exon14:c.A2215T:p.I739F;cytoBand=18q12.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs772240008;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=8.282e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.499e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.161;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.057;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0.345;MutationAssessor_pred=N;FATHMM_score=0.29;FATHMM_pred=T;PROVEAN_score=-0.18;PROVEAN_pred=N;VEST3_score=0.209;CADD_raw=-0.410;CADD_phred=0.367;DANN_score=0.603;fathmm-MKL_coding_score=0.060;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.056;MetaSVM_pred=T;MetaLR_score=0.081;MetaLR_pred=T;integrated_fitCons_score=0.719;integrated_confidence_value=0;GERP++_RS=-10.7;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=0.231;phastCons7way_vertebrate=0.009;phastCons20way_mammalian=0.000;SiPhy_29way_logOdds=4.486;GDI_full_10282015=.;dpsi_max_tissue=-0.1182;dpsi_zscore=-0.502;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=8.129e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=1.793e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . 1:92:0,44 . . . . . . . . . . . . . . . . 18 29122799 44300;rs2278792 G A 171.39 . #_unique_end_positions=,19;#_unique_start_positions=,14;AC=13;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0333;AF_ESP_clinvar_20171029_hg19=,0.1973;AF_EXAC_clinvar_20171029_hg19=,0.26757;AF_TGP_clinvar_20171029_hg19=,0.2400;ALLELEID_clinvar_20171029_hg19=,53467;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2536;AN=13;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001934.2:p.Arg773Lys;Amino_acid_change_in_longest_transcript=,NP_001934.2:p.Arg773Lys;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.76|0.24;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374|MedGen:CN230736|MedGen:CN239181|MedGen:CN239310;CLNDN_clinvar_20171029_hg19=,not_specified|Cardiovascular_phenotype|Cardiomyopathy|_ARVC|Dilated_Cardiomyopathy|_Dominant;CLNHGVS_clinvar_20171029_hg19=,NC_000018.9:g.29122799G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:21624|UniProtKB_(protein):Q14126#VAR_048511;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001943.4:c.2318G>A;Coding_region_change_in_longest_transcript=,NM_001943.4:c.2318G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4643;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2624;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,16;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,DSG2-AS1:100652770|DSG2:1829;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:1829|GeneID:100652770;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:1829;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:3049|HGNC:HGNC:51311;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:3049;Homo_sapiens_refseq_GRCh37.p13_Genes=,DSG2|DSG2-AS1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001943.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene34645|gene34646;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna50517;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:125671;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:125671;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene34645;QUAL=,80.2941257334906;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,29122799;RS_dbsnp_common_v150_hg19_refseq=,2278792;Read_count=,20;Read_coverage=,33;Read_direction_test_probability=,0.9903314312601768;Read_position_test_probability=,0.9347087637774982;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001943.4;Reverse_read_coverage=,17;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2556;SF=5,6,9,12,14,23,25,26,27,29,32,34,38;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.816608|0.183392;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128080a0515053f000101;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.0612245;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.28125;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.3375;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.39881;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.241379;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.571429;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.535294;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.05;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.36;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.0454545;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.166667;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0132743;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.001;db_xref=,GeneID:1829|HGNC:HGNC:3049|MIM:125671|GeneID:100652770|HGNC:HGNC:51311;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001943.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,desmoglein_2|DSG2_antisense_RNA_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,DSG2|DSG2-AS1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,DSG2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding|lncRNA;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CDHF5|HDGC;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,desmoglein_2;transcript_id=,NM_001943.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DSG2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DSG2:NM_001943:exon14:c.G2318A:p.R773K;cytoBand=18q12.1;genomicSuperDups=.;esp6500siv2_all=0.1973;esp6500siv2_ea=0.2540;esp6500siv2_all=0.1973;esp6500siv2_ea=0.2540;1000g2015aug_all=0.240016;avsnp147=rs2278792;Kaviar_AF=0.256601;Kaviar_AC=39671;Kaviar_AN=154602;ExAC_ALL=0.2676;ExAC_AFR=0.0742;ExAC_AMR=0.2923;ExAC_EAS=0.4748;ExAC_FIN=0.3425;ExAC_NFE=0.2565;ExAC_OTH=0.2674;ExAC_SAS=0.2706;CLNALLELEID=53467;CLNDN=not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN239181|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.383;SIFT_pred=T;Polyphen2_HDIV_score=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.027;Polyphen2_HVAR_pred=B;LRT_score=0.270;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.35;MutationAssessor_pred=N;FATHMM_score=0.42;FATHMM_pred=T;PROVEAN_score=-0.35;PROVEAN_pred=N;VEST3_score=0.024;CADD_raw=2.152;CADD_phred=17.19;DANN_score=0.940;fathmm-MKL_coding_score=0.805;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.946;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=2.2;phyloP7way_vertebrate=-0.230;phyloP20way_mammalian=0.133;phastCons7way_vertebrate=0.757;phastCons20way_mammalian=0.996;SiPhy_29way_logOdds=10.588;GDI_full_10282015=.;dpsi_max_tissue=-0.0711;dpsi_zscore=-0.352;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2656;gnomAD_exome_AFR=0.0710;gnomAD_exome_AMR=0.2830;gnomAD_exome_ASJ=0.1685;gnomAD_exome_EAS=0.4665;gnomAD_exome_FIN=0.3377;gnomAD_exome_NFE=0.2551;gnomAD_exome_OTH=0.2517;gnomAD_exome_SAS=0.2464;gnomAD_genome_ALL=0.2286;gnomAD_genome_AFR=0.0777;gnomAD_genome_AMR=0.3280;gnomAD_genome_ASJ=0.1779;gnomAD_genome_EAS=0.4417;gnomAD_genome_FIN=0.3424;gnomAD_genome_NFE=0.2602;gnomAD_genome_OTH=0.2553;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 . . . . . 1:31:0,19 1:28:0,16 . . 1:58:0,31 . . 1:62:0,30 . 1:52:0,25 . . . . . . . . 1:49:0,21 . 1:52:0,29 1:54:0,28 1:56:0,28 . 1:62:0,31 . . 1:56:0,30 . 1:52:0,25 . . . 1:46:0,28 . . . 18 29125854 44302;rs1042769 A G 181.93 . #_unique_end_positions=,38;#_unique_start_positions=,38;AC=13;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3661;AF_ESP_clinvar_20171029_hg19=,0.1802;AF_EXAC_clinvar_20171029_hg19=,0.12844;AF_TGP_clinvar_20171029_hg19=,0.1975;ALLELEID_clinvar_20171029_hg19=,53469;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1383;AN=13;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.17;CAF_dbsnp_common_v150_hg19_refseq=,0.8025|0.1975;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374|MedGen:CN230736|MedGen:CN239181|MedGen:CN239310;CLNDN_clinvar_20171029_hg19=,not_specified|Cardiovascular_phenotype|Cardiomyopathy|_ARVC|Dilated_Cardiomyopathy|_Dominant;CLNHGVS_clinvar_20171029_hg19=,NC_000018.9:g.29125854A>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:52494;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001943.4:c.2505A>G;Coding_region_change_in_longest_transcript=,NM_001943.4:c.2505A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2222;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1004;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,63;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,DSG2-AS1:100652770|DSG2:1829;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:1829|GeneID:100652770;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:1829|GeneID:100652770;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:3049|HGNC:HGNC:51311;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:3049|HGNC:HGNC:51311;Homo_sapiens_refseq_GRCh37.p13_Genes=,DSG2|DSG2-AS1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001943.4|NR_045216.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene34645|gene34646;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna50517|rna50518;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:125671;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:125671;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene34645|gene34646;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,29125854;RS_dbsnp_common_v150_hg19_refseq=,1042769;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,53;Read_coverage=,104;Read_direction_test_probability=,0.7144746603227392;Read_position_test_probability=,0.7539113016261064;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001943.4|NR_045216.1;Reverse_read_coverage=,41;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0859;SF=0,3,6,17,18,20,22,24,25,37,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.781372|0.218628;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05012800030517053f000101;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.428571;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0929204;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.280488;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.182353;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.147727;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.104651;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.215116;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.372222;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.15;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.321678;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.142045;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.358407;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.966;db_xref=,GeneID:1829|HGNC:HGNC:3049|MIM:125671|GeneID:100652770|HGNC:HGNC:51311;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001943.4|Genbank:NR_045216.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,desmoglein_2|DSG2_antisense_RNA_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA|ncRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,DSG2|DSG2-AS1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,DSG2|DSG2-AS1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding|lncRNA;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CDHF5|HDGC;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,desmoglein_2|DSG2_antisense_RNA_1;transcript_id=,NM_001943.4|NR_045216.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA|lnc_RNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DSG2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DSG2:NM_001943:exon15:c.A2505G:p.T835T;cytoBand=18q12.1;genomicSuperDups=.;esp6500siv2_all=0.1801;esp6500siv2_ea=0.1076;esp6500siv2_all=0.1801;esp6500siv2_ea=0.1076;1000g2015aug_all=0.197484;avsnp147=rs1042769;Kaviar_AF=0.12745;Kaviar_AC=19704;Kaviar_AN=154602;ExAC_ALL=0.1284;ExAC_AFR=0.3545;ExAC_AMR=0.1220;ExAC_EAS=0.1942;ExAC_FIN=0.0714;ExAC_NFE=0.1076;ExAC_OTH=0.0978;ExAC_SAS=0.0735;CLNALLELEID=53469;CLNDN=not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN239181|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1248;gnomAD_exome_AFR=0.3544;gnomAD_exome_AMR=0.1267;gnomAD_exome_ASJ=0.1347;gnomAD_exome_EAS=0.1961;gnomAD_exome_FIN=0.0724;gnomAD_exome_NFE=0.1063;gnomAD_exome_OTH=0.1108;gnomAD_exome_SAS=0.0727;gnomAD_genome_ALL=0.1768;gnomAD_genome_AFR=0.3479;gnomAD_genome_AMR=0.1199;gnomAD_genome_ASJ=0.1490;gnomAD_genome_EAS=0.2045;gnomAD_genome_FIN=0.0647;gnomAD_genome_NFE=0.1080;gnomAD_genome_OTH=0.1245;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 1:93:0,47 . . 1:87:0,40 . . 1:51:0,21 . . . . . . . . . . 1:112:0,60 1:76:0,33 . 1:95:0,45 . 1:63:0,33 . 1:87:0,38 1:64:0,23 . . . . . . . . . . . 1:69:0,44 . 1:68:0,42 1:89:0,44 1:96:0,43 18 29126670 44315;rs1791235 T C 200.00 . #_unique_end_positions=,34;#_unique_start_positions=,24;AC=26;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7315;AF_ESP_clinvar_20171029_hg19=,0.4731;AF_EXAC_clinvar_20171029_hg19=,0.42332;ALLELEID_clinvar_20171029_hg19=,53482;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4280;AN=26;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.4571|0.5429;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374|MedGen:CN230736|MedGen:CN239181|MedGen:CN239310;CLNDN_clinvar_20171029_hg19=,not_specified|Cardiovascular_phenotype|Cardiomyopathy|_ARVC|Dilated_Cardiomyopathy|_Dominant;CLNHGVS_clinvar_20171029_hg19=,NC_000018.9:g.29126670T>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:21637;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001943.4:c.3321T>C;Coding_region_change_in_longest_transcript=,NM_001943.4:c.3321T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7361;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3748;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,23;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,DSG2-AS1:100652770|DSG2:1829;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:1829|GeneID:100652770;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:1829;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:3049|HGNC:HGNC:51311;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:3049;Homo_sapiens_refseq_GRCh37.p13_Genes=,DSG2|DSG2-AS1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001943.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene34645|gene34646;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna50517;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:125671;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:125671;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene34645;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,29126670;RS_dbsnp_common_v150_hg19_refseq=,1791235;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,50;Read_coverage=,103;Read_direction_test_probability=,0.9823520422668679;Read_position_test_probability=,0.9737297053619314;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001943.4;Reverse_read_coverage=,80;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3436;SF=0,3,5,6,9,12,14,17,18,20,22,23,24,25,26,27,29,32,34,37,38,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.476166|0.523834;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05012808030517053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.653061;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.376106;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.646341;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.617647;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.392045;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.697674;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.773256;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.727778;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.52;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.588028;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.335227;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.743363;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.849;db_xref=,GeneID:1829|HGNC:HGNC:3049|MIM:125671|GeneID:100652770|HGNC:HGNC:51311;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001943.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,desmoglein_2|DSG2_antisense_RNA_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,DSG2|DSG2-AS1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,DSG2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding|lncRNA;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CDHF5|HDGC;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,desmoglein_2;transcript_id=,NM_001943.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DSG2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DSG2:NM_001943:exon15:c.T3321C:p.V1107V;cytoBand=18q12.1;genomicSuperDups=.;esp6500siv2_all=0.4731;esp6500siv2_ea=0.3777;esp6500siv2_all=0.4731;esp6500siv2_ea=0.3777;1000g2015aug_all=0.542931;avsnp147=rs1791235;Kaviar_AF=0.419658;Kaviar_AC=64880;Kaviar_AN=154602;ExAC_ALL=0.4233;ExAC_AFR=0.6952;ExAC_AMR=0.4352;ExAC_EAS=0.7075;ExAC_FIN=0.4153;ExAC_NFE=0.3705;ExAC_OTH=0.3867;ExAC_SAS=0.3241;CLNALLELEID=53482;CLNDN=not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN239181|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.4220;gnomAD_exome_AFR=0.6961;gnomAD_exome_AMR=0.4447;gnomAD_exome_ASJ=0.3193;gnomAD_exome_EAS=0.7052;gnomAD_exome_FIN=0.4139;gnomAD_exome_NFE=0.3733;gnomAD_exome_OTH=0.3827;gnomAD_exome_SAS=0.3246;gnomAD_genome_ALL=0.4896;gnomAD_genome_AFR=0.6868;gnomAD_genome_AMR=0.4928;gnomAD_genome_ASJ=0.3311;gnomAD_genome_EAS=0.6954;gnomAD_genome_FIN=0.4066;gnomAD_genome_NFE=0.3807;gnomAD_genome_OTH=0.4051;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 1:93:0,47 . . 1:106:0,47 . 1:114:0,55 1/1:101:0,101 . . 1:122:0,56 . . 1:138:0,67 . 1:188:0,77 . . 1:111:0,45 1:103:0,42 . 1:152:0,50 . 1:178:0,80 1:180:0,91 1:152:0,74 1/1:109:0,109 1:163:0,81 1:184:0,84 . 1:168:0,73 . . 1:134:0,60 . 1:150:0,66 . . 1:101:0,64 1:128:0,55 1:150:0,69 1:125:0,57 1:141:0,78 18 29172865 13452;rs1800458 G A 200.00 . #_unique_end_positions=,26;#_unique_start_positions=,21;AC=3;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0015;AF_ESP_clinvar_20171029_hg19=,0.0574;AF_EXAC_clinvar_20171029_hg19=,0.04953;AF_TGP_clinvar_20171029_hg19=,0.0234;ALLELEID_clinvar_20171029_hg19=,28491;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0389;AN=3;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_000362.1:p.Gly26Ser;Amino_acid_change_in_longest_transcript=,NP_000362.1:p.Gly26Ser;BaseQRankSum=,0.21;CAF_dbsnp_common_v150_hg19_refseq=,0.9766|0.02336;CLNDISDB_clinvar_20171029_hg19=,.|MedGen:CN169374|MedGen:CN230736;CLNDN_clinvar_20171029_hg19=,TRANSTHYRETIN_POLYMORPHISM|not_specified|Cardiovascular_phenotype;CLNHGVS_clinvar_20171029_hg19=,NC_000018.9:g.29172865G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,ARUP_Laboratories|_Molecular_Genetics_and_Genomics:53482|OMIM_Allelic_Variant:176300.0036|UniProtKB_(protein):P02766#VAR_007546;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000371.3:c.76G>A;Coding_region_change_in_longest_transcript=,NM_000371.3:c.76G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0785;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,45;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TTR:7276;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7276;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7276;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:12405;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:12405;Homo_sapiens_refseq_GRCh37.p13_Genes=,TTR;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_000371.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene34647;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna50519;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:176300;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:176300;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;OM_dbsnp_common_v150_hg19_refseq=,OM;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene34647;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,29172865;RS_dbsnp_common_v150_hg19_refseq=,1800458;Read_count=,35;Read_coverage=,69;Read_direction_test_probability=,0.963903046014582;Read_position_test_probability=,0.7842375994559603;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_000371.3;Reverse_read_coverage=,24;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0092;SF=2,25,34;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.960986|0.0390137;TPA_dbsnp_common_v150_hg19_refseq=,TPA;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050378000a0515053f110100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.0102041;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0916667;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.00568182;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.04;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.0340909;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.002;db_xref=,GeneID:7276|HGNC:HGNC:12405|MIM:176300;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:01447;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_000371.3|HPRD:01447;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,transthyretin;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TTR;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TTR;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CTS|CTS1|HEL111|HsT2651|PALB|TBPA;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,transthyretin;transcript_id=,NM_000371.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TTR;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTR:NM_000371:exon2:c.G76A:p.G26S;cytoBand=18q12.1;genomicSuperDups=.;esp6500siv2_all=0.0574;esp6500siv2_ea=0.0780;esp6500siv2_all=0.0574;esp6500siv2_ea=0.0780;1000g2015aug_all=0.0233626;avsnp147=rs1800458;Kaviar_AF=0.0509825;Kaviar_AC=7882;Kaviar_AN=154602;ExAC_ALL=0.0495;ExAC_AFR=0.0139;ExAC_AMR=0.0225;ExAC_EAS=0.0002;ExAC_FIN=0.0939;ExAC_NFE=0.0709;ExAC_OTH=0.0396;ExAC_SAS=0.0130;CLNALLELEID=28491;CLNDN=TRANSTHYRETIN_POLYMORPHISM|not_specified|Cardiovascular_phenotype;CLNDISDB=.|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.043;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0.475;MutationAssessor_pred=N;FATHMM_score=-3.64;FATHMM_pred=D;PROVEAN_score=0.11;PROVEAN_pred=N;VEST3_score=0.1;CADD_raw=-0.088;CADD_phred=1.822;DANN_score=0.328;fathmm-MKL_coding_score=0.253;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.841;MetaSVM_pred=T;MetaLR_score=0.080;MetaLR_pred=T;integrated_fitCons_score=0.447;integrated_confidence_value=0;GERP++_RS=3.5;phyloP7way_vertebrate=-0.011;phyloP20way_mammalian=0.096;phastCons7way_vertebrate=0.013;phastCons20way_mammalian=0.012;SiPhy_29way_logOdds=8.142;GDI_full_10282015=.;dpsi_max_tissue=-3.7815;dpsi_zscore=-2.310;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM1611713#"Amyloidotic_polyneuropathy";gnomAD_exome_ALL=0.0507;gnomAD_exome_AFR=0.0127;gnomAD_exome_AMR=0.0239;gnomAD_exome_ASJ=0.0555;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0.0964;gnomAD_exome_NFE=0.0728;gnomAD_exome_OTH=0.0490;gnomAD_exome_SAS=0.0129;gnomAD_genome_ALL=0.0580;gnomAD_genome_AFR=0.0147;gnomAD_genome_AMR=0.0298;gnomAD_genome_ASJ=0.0533;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.1025;gnomAD_genome_NFE=0.0812;gnomAD_genome_OTH=0.0489;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . 1:66:0,32 . . . . . . . . . . . . . . . . . . . . . . 1:49:0,26 . . . . . . . . 1:75:0,32 . . . . . . . 18 32374041 179761 G A 200.00 . #_unique_end_positions=,43;#_unique_start_positions=,32;AC=1;ALLELEID_clinvar_20171029_hg19=,176544;AN=1;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.1;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000018.9:g.32374041G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_single_submitter;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;Coding_region_change=,NM_001128175.1:c.189G>A|_NM_001198938.1:c.189G>A|_NM_001198939.1:c.189G>A|_NM_001198940.1:c.189G>A|_NM_001198941.1:c.189G>A|_NM_001198945.1:c.189G>A|_NM_001390.4:c.189G>A|_NM_001391.5:c.189G>A|_NM_001392.4:c.189G>A|_NM_032975.3:c.189G>A|_NM_032978.6:c.189G>A|_NM_032979.4:c.189G>A;Coding_region_change_in_longest_transcript=,NM_001198939.1:c.189G>A;Exact_match=,clinvar_20171029_hg19;Forward_read_coverage=,79;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:1837;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:1837;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:3057;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:3057;Homo_sapiens_refseq_GRCh37.p13_Genes=,DTNA;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001392.4|NM_001198945.1|NM_032979.4|NM_032975.3|NM_001128175.1|NM_001198938.1|NM_001198940.1|NM_001198939.1|NM_001198941.1|NM_032978.6|NM_001391.5|NM_001390.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene34673;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna50547|rna50546|rna50545|rna50544|rna50551|rna50550|rna50549|rna50548|rna50553|rna50552|rna50555|rna50554;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:601239;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:601239;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene34673;QUAL=,200.0;Read_count=,76;Read_coverage=,132;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9941267221418199;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001392.4|NM_001198945.1|NM_032979.4|NM_032975.3|NM_001128175.1|NM_001198938.1|NM_001198940.1|NM_001198939.1|NM_001198941.1|NM_032978.6|NM_001391.5|NM_001390.4;Reverse_read_coverage=,53;SF=19;conservation_score=,1.0;db_xref=,GeneID:1837|HGNC:HGNC:3057|MIM:601239;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001392.4|Genbank:NM_001198945.1|Genbank:NM_032979.4|Genbank:NM_032975.3|Genbank:NM_001128175.1|Genbank:NM_001198938.1|Genbank:NM_001198940.1|Genbank:NM_001198939.1|Genbank:NM_001198941.1|Genbank:NM_032978.6|Genbank:NM_001391.5|Genbank:NM_001390.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,dystrobrevin_alpha;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,DTNA;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,DTNA;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,D18S892E|DRP3|DTN|DTN-A|LVNC1;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,dystrobrevin_alpha|_transcript_variant_7|dystrobrevin_alpha|_transcript_variant_17|dystrobrevin_alpha|_transcript_variant_5|dystrobrevin_alpha|_transcript_variant_2|dystrobrevin_alpha|_transcript_variant_9|dystrobrevin_alpha|_transcript_variant_10|dystrobrevin_alpha|_transcript_variant_12|dystrobrevin_alpha|_transcript_variant_11|dystrobrevin_alpha|_transcript_variant_13|dystrobrevin_alpha|_transcript_variant_4|dystrobrevin_alpha|_transcript_variant_3|dystrobrevin_alpha|_transcript_variant_1;transcript_id=,NM_001392.4|NM_001198945.1|NM_032979.4|NM_032975.3|NM_001128175.1|NM_001198938.1|NM_001198940.1|NM_001198939.1|NM_001198941.1|NM_032978.6|NM_001391.5|NM_001390.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DTNA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DTNA:NM_001390:exon3:c.G189A:p.R63R,DTNA:NM_001391:exon3:c.G189A:p.R63R,DTNA:NM_001198941:exon4:c.G189A:p.R63R,DTNA:NM_032978:exon4:c.G189A:p.R63R,DTNA:NM_001128175:exon5:c.G189A:p.R63R,DTNA:NM_001198938:exon5:c.G189A:p.R63R,DTNA:NM_001198939:exon5:c.G189A:p.R63R,DTNA:NM_001198940:exon5:c.G189A:p.R63R,DTNA:NM_001198945:exon5:c.G189A:p.R63R,DTNA:NM_001392:exon5:c.G189A:p.R63R,DTNA:NM_032975:exon5:c.G189A:p.R63R,DTNA:NM_032979:exon5:c.G189A:p.R63R;cytoBand=18q12.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs727505106;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=176544;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0529;dpsi_zscore=0.311;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=4.069e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=8.977e-06;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . 1:113:0,64 . . . . . . . . . . . . . . . . . . . . . . 18 32374177 180345 A G 200.00 . #_unique_end_positions=,50;#_unique_start_positions=,39;AC=1;ALLELEID_clinvar_20171029_hg19=,178731;AN=1;Amino_acid_change=,NP_001381.2:p.Ser109Gly|_NP_116760.2:p.Ser109Gly|_NP_116761.2:p.Ser109Gly|_NP_001383.2:p.Ser109Gly|_NP_001185870.1:p.Ser109Gly|_NP_001185868.1:p.Ser109Gly|_NP_116757.2:p.Ser109Gly|_NP_001185867.1:p.Ser109Gly|_NP_001185869.1:p.Ser109Gly|_NP_001121647.1:p.Ser109Gly|_NP_001185874.1:p.Ser109Gly|_NP_001382.2:p.Ser109Gly;Amino_acid_change_in_longest_transcript=,NP_001185868.1:p.Ser109Gly;BaseQRankSum=,0.11;CLNDISDB_clinvar_20171029_hg19=,MedGen:C0007193|Orphanet:ORPHA217604|SNOMED_CT:195021004|MedGen:C0949658|Orphanet:ORPHA155|SNOMED_CT:83978005;CLNDN_clinvar_20171029_hg19=,Primary_dilated_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy;CLNHGVS_clinvar_20171029_hg19=,NC_000018.9:g.32374177A>G;CLNREVSTAT_clinvar_20171029_hg19=,no_assertion_criteria_provided;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;Coding_region_change=,NM_001128175.1:c.325A>G|_NM_001198938.1:c.325A>G|_NM_001198939.1:c.325A>G|_NM_001198940.1:c.325A>G|_NM_001198941.1:c.325A>G|_NM_001198945.1:c.325A>G|_NM_001390.4:c.325A>G|_NM_001391.5:c.325A>G|_NM_001392.4:c.325A>G|_NM_032975.3:c.325A>G|_NM_032978.6:c.325A>G|_NM_032979.4:c.325A>G;Coding_region_change_in_longest_transcript=,NM_001198939.1:c.325A>G;Exact_match=,clinvar_20171029_hg19;Forward_read_coverage=,66;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:1837;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:1837;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:3057;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:3057;Homo_sapiens_refseq_GRCh37.p13_Genes=,DTNA;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001392.4|NM_001198945.1|NM_032979.4|NM_032975.3|NM_001128175.1|NM_001198938.1|NM_001198940.1|NM_001198939.1|NM_001198941.1|NM_032978.6|NM_001391.5|NM_001390.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene34673;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna50547|rna50546|rna50545|rna50544|rna50551|rna50550|rna50549|rna50548|rna50553|rna50552|rna50555|rna50554;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:601239;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:601239;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene34673;QUAL=,200.0;Read_count=,69;Read_coverage=,150;Read_direction_test_probability=,0.6838429913296353;Read_position_test_probability=,0.7125427158813789;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001392.4|NM_001198945.1|NM_032979.4|NM_032975.3|NM_001128175.1|NM_001198938.1|NM_001198940.1|NM_001198939.1|NM_001198941.1|NM_032978.6|NM_001391.5|NM_001390.4;Reverse_read_coverage=,84;SF=28;conservation_score=,1.0;db_xref=,GeneID:1837|HGNC:HGNC:3057|MIM:601239;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001392.4|Genbank:NM_001198945.1|Genbank:NM_032979.4|Genbank:NM_032975.3|Genbank:NM_001128175.1|Genbank:NM_001198938.1|Genbank:NM_001198940.1|Genbank:NM_001198939.1|Genbank:NM_001198941.1|Genbank:NM_032978.6|Genbank:NM_001391.5|Genbank:NM_001390.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,dystrobrevin_alpha;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,DTNA;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,DTNA;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,D18S892E|DRP3|DTN|DTN-A|LVNC1;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,dystrobrevin_alpha|_transcript_variant_7|dystrobrevin_alpha|_transcript_variant_17|dystrobrevin_alpha|_transcript_variant_5|dystrobrevin_alpha|_transcript_variant_2|dystrobrevin_alpha|_transcript_variant_9|dystrobrevin_alpha|_transcript_variant_10|dystrobrevin_alpha|_transcript_variant_12|dystrobrevin_alpha|_transcript_variant_11|dystrobrevin_alpha|_transcript_variant_13|dystrobrevin_alpha|_transcript_variant_4|dystrobrevin_alpha|_transcript_variant_3|dystrobrevin_alpha|_transcript_variant_1;transcript_id=,NM_001392.4|NM_001198945.1|NM_032979.4|NM_032975.3|NM_001128175.1|NM_001198938.1|NM_001198940.1|NM_001198939.1|NM_001198941.1|NM_032978.6|NM_001391.5|NM_001390.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DTNA;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DTNA:NM_001390:exon3:c.A325G:p.S109G,DTNA:NM_001391:exon3:c.A325G:p.S109G,DTNA:NM_001198941:exon4:c.A325G:p.S109G,DTNA:NM_032978:exon4:c.A325G:p.S109G,DTNA:NM_001128175:exon5:c.A325G:p.S109G,DTNA:NM_001198938:exon5:c.A325G:p.S109G,DTNA:NM_001198939:exon5:c.A325G:p.S109G,DTNA:NM_001198940:exon5:c.A325G:p.S109G,DTNA:NM_001198945:exon5:c.A325G:p.S109G,DTNA:NM_001392:exon5:c.A325G:p.S109G,DTNA:NM_032975:exon5:c.A325G:p.S109G,DTNA:NM_032979:exon5:c.A325G:p.S109G;cytoBand=18q12.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs730880094;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=178731;CLNDN=Primary_dilated_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Uncertain_significance;SIFT_score=0.227;SIFT_pred=T;Polyphen2_HDIV_score=0.031;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.06;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=1.14;MutationAssessor_pred=L;FATHMM_score=-0.02;FATHMM_pred=T;PROVEAN_score=-1.86;PROVEAN_pred=N;VEST3_score=0.558;CADD_raw=1.613;CADD_phred=13.92;DANN_score=0.992;fathmm-MKL_coding_score=0.841;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.941;MetaSVM_pred=T;MetaLR_score=0.165;MetaLR_pred=T;integrated_fitCons_score=0.661;integrated_confidence_value=0;GERP++_RS=4.27;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.199;phastCons7way_vertebrate=0.999;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=10.142;GDI_full_10282015=.;dpsi_max_tissue=0.0763;dpsi_zscore=0.404;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:140:0,64 . . . . . . . . . . . . . 18 32470291 137181;rs9944927 G A 194.76 . #_unique_end_positions=,87;#_unique_start_positions=,71;AC=25;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5946;AF_EXAC_clinvar_20171029_hg19=,0.24061;AF_TGP_clinvar_20171029_hg19=,0.2670;ALLELEID_clinvar_20171029_hg19=,140884;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1873;AN=25;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001185867.1:p.Glu688Lys;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.14;CAF_dbsnp_common_v150_hg19_refseq=,0.733|0.267;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000018.9:g.32470291G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001198938.1:c.2062G>A|_NM_001198939.1:c.*2593G>A|_NM_001198940.1:c.*2593G>A|_NM_001198942.1:c.*2593G>A|_NM_001198943.1:c.*2593G>A|_NM_001198944.1:c.*2593G>A|_NM_001390.4:c.*2593G>A|_NM_032975.3:c.*2593G>A|_NM_032980.3:c.*2593G>A;Coding_region_change_in_longest_transcript=,NM_001198939.1:c.*2593G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0139;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2187;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,83;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,DTNA:1837;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:1837;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:1837;Genotype=,A/A;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:3057;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:3057;Homo_sapiens_refseq_GRCh37.p13_Genes=,DTNA;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_032975.3|NM_001198938.1|NM_001198940.1|NM_001198939.1|NM_001390.4|NM_001198943.1|NM_001198944.1|NM_001198942.1|NM_032980.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene34673;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna50544|rna50550|rna50549|rna50548|rna50554|rna50556|rna50558|rna50557|rna50559;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant|SO:0001624|3_prime_UTR_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:601239;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:601239;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene34673;QUAL=,200.0;R3_dbsnp_common_v150_hg19_refseq=,R3;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,32470291;RS_dbsnp_common_v150_hg19_refseq=,9944927;Read_count=,183;Read_coverage=,183;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_032975.3|NM_001198938.1|NM_001198940.1|NM_001198939.1|NM_001390.4|NM_001198943.1|NM_001198944.1|NM_001198942.1|NM_032980.3;Reverse_read_coverage=,100;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1912;SF=0,1,3,4,5,8,12,15,18,19,23,24,25,37,38,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.620578|0.379422;U3_dbsnp_common_v150_hg19_refseq=,U3;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128840a0515053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.540816;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.216814;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.0294118;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.215909;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0232558;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0174419;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.566667;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.12;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.444056;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.210227;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.654867;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:1837|HGNC:HGNC:3057|MIM:601239;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_032975.3|Genbank:NM_001198938.1|Genbank:NM_001198940.1|Genbank:NM_001198939.1|Genbank:NM_001390.4|Genbank:NM_001198943.1|Genbank:NM_001198944.1|Genbank:NM_001198942.1|Genbank:NM_032980.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,dystrobrevin_alpha;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,DTNA;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,DTNA;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,D18S892E|DRP3|DTN|DTN-A|LVNC1;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,dystrobrevin_alpha|_transcript_variant_2|dystrobrevin_alpha|_transcript_variant_10|dystrobrevin_alpha|_transcript_variant_12|dystrobrevin_alpha|_transcript_variant_11|dystrobrevin_alpha|_transcript_variant_1|dystrobrevin_alpha|_transcript_variant_15|dystrobrevin_alpha|_transcript_variant_16|dystrobrevin_alpha|_transcript_variant_14|dystrobrevin_alpha|_transcript_variant_6;transcript_id=,NM_032975.3|NM_001198938.1|NM_001198940.1|NM_001198939.1|NM_001390.4|NM_001198943.1|NM_001198944.1|NM_001198942.1|NM_032980.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DTNA;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DTNA:NM_001198938:exon20:c.G2062A:p.E688K;cytoBand=18q12.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.266973;avsnp147=rs9944927;Kaviar_AF=0.0590484;Kaviar_AC=9129;Kaviar_AN=154602;ExAC_ALL=0.2406;ExAC_AFR=0.5520;ExAC_AMR=0.25;ExAC_EAS=0.0354;ExAC_FIN=0.5;ExAC_NFE=0.2485;ExAC_OTH=0.1818;ExAC_SAS=0.2201;CLNALLELEID=140884;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=2.2;FATHMM_pred=T;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=0.054;CADD_raw=2.442;CADD_phred=19.09;DANN_score=0.926;fathmm-MKL_coding_score=0.198;fathmm-MKL_coding_pred=N;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=0.638;integrated_confidence_value=0;GERP++_RS=4.71;phyloP7way_vertebrate=0.125;phyloP20way_mammalian=0.244;phastCons7way_vertebrate=0.996;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=6.417;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2017;gnomAD_exome_AFR=0.5731;gnomAD_exome_AMR=0.1306;gnomAD_exome_ASJ=0.2759;gnomAD_exome_EAS=0.0185;gnomAD_exome_FIN=0.1767;gnomAD_exome_NFE=0.2083;gnomAD_exome_OTH=0.2196;gnomAD_exome_SAS=0.2164;gnomAD_genome_ALL=0.2936;gnomAD_genome_AFR=0.5736;gnomAD_genome_AMR=0.1396;gnomAD_genome_ASJ=0.2867;gnomAD_genome_EAS=0.0092;gnomAD_genome_FIN=0.1879;gnomAD_genome_NFE=0.1994;gnomAD_genome_OTH=0.2249;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1/1:168:0,168 1:188:0,86 . 1:145:0,79 1:132:0,41 1/1:174:0,174 . . 1:213:0,105 . . . 1:189:0,91 . . 1/1:184:0,184 . . 1/1:143:0,143 1/1:132:0,132 . . . 1/1:171:0,171 1:226:0,101 1/1:134:0,134 . . . . . . . . . . . 1:124:0,54 1/1:144:0,144 . . 1/1:176:0,176 18 34156497 rs61735987 A G 46.17 . #_unique_end_positions=,4;#_unique_start_positions=,4;AC=2;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0113;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0072;AN=2;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_079411.2:p.Ile199Val|_NP_001268668.1:p.Ile199Val|_NP_001268669.1:p.Ile199Val;Amino_acid_change_in_longest_transcript=,NP_001268669.1:p.Ile199Val;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.9339|0.06609;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001281739.2:c.595A>G|_NM_001281740.2:c.595A>G|_NM_025135.4:c.595A>G;Coding_region_change_in_longest_transcript=,NM_001281740.2:c.595A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1567;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0020;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,5;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,FHOD3:80206;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:80206;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:80206;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:26178;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:26178;Homo_sapiens_refseq_GRCh37.p13_Genes=,FHOD3;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001281739.2|NM_025135.4|NM_001281740.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene34696;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna50618|rna50617|rna50616;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:609691;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:609691;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene34696;QUAL=,28.377357136832014;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,34156497;RS_dbsnp_common_v150_hg19_refseq=,61735987;Read_count=,5;Read_coverage=,14;Read_direction_test_probability=,0.8882592220672905;Read_position_test_probability=,0.9040795224182107;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001281739.2|NM_025135.4|NM_001281740.2;Reverse_read_coverage=,9;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1544;SF=0,1;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.983756|0.0162442;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050300000a05150536000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.904;db_xref=,GeneID:80206|HGNC:HGNC:26178|MIM:609691;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001281739.2|Genbank:NM_025135.4|Genbank:NM_001281740.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,formin_homology_2_domain_containing_3;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,FHOD3;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,FHOD3;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,FHOS2|Formactin2;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,formin_homology_2_domain_containing_3|_transcript_variant_2|formin_homology_2_domain_containing_3|_transcript_variant_1|formin_homology_2_domain_containing_3|_transcript_variant_3;transcript_id=,NM_001281739.2|NM_025135.4|NM_001281740.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FHOD3:NM_001281739:exon6:c.A595G:p.I199V,FHOD3:NM_001281740:exon6:c.A595G:p.I199V,FHOD3:NM_025135:exon6:c.A595G:p.I199V;cytoBand=18q12.2;genomicSuperDups=.;esp6500siv2_all=0.0099;esp6500siv2_ea=0.0043;esp6500siv2_all=0.0099;esp6500siv2_ea=0.0043;1000g2015aug_all=0.0660942;avsnp147=rs61735987;Kaviar_AF=0.0300449;Kaviar_AC=4645;Kaviar_AN=154602;ExAC_ALL=0.0325;ExAC_AFR=0.0229;ExAC_AMR=0.0079;ExAC_EAS=0.1450;ExAC_FIN=0.0023;ExAC_NFE=0.0051;ExAC_OTH=0.0288;ExAC_SAS=0.1204;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.31;SIFT_pred=T;Polyphen2_HDIV_score=0.034;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.035;Polyphen2_HVAR_pred=B;LRT_score=0.004;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=0.805;MutationAssessor_pred=L;FATHMM_score=2.2;FATHMM_pred=T;PROVEAN_score=-0.15;PROVEAN_pred=N;VEST3_score=0.068;CADD_raw=0.448;CADD_phred=7.022;DANN_score=0.919;fathmm-MKL_coding_score=0.699;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.971;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.693;integrated_confidence_value=0;GERP++_RS=0.728;phyloP7way_vertebrate=-0.027;phyloP20way_mammalian=-0.200;phastCons7way_vertebrate=0.993;phastCons20way_mammalian=0.970;SiPhy_29way_logOdds=8.472;GDI_full_10282015=.;dpsi_max_tissue=0.0546;dpsi_zscore=0.319;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0301;gnomAD_exome_AFR=0.0233;gnomAD_exome_AMR=0.0049;gnomAD_exome_ASJ=0.0022;gnomAD_exome_EAS=0.1443;gnomAD_exome_FIN=0.0022;gnomAD_exome_NFE=0.0053;gnomAD_exome_OTH=0.0189;gnomAD_exome_SAS=0.1187;gnomAD_genome_ALL=0.0170;gnomAD_genome_AFR=0.0201;gnomAD_genome_AMR=0.0060;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0.1504;gnomAD_genome_FIN=0.0023;gnomAD_genome_NFE=0.0051;gnomAD_genome_OTH=0.0173;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:13:0,4 1:23:0,9 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 18 34205551 rs60414347 C T 200.00 . #_unique_end_positions=,46;#_unique_start_positions=,55;AC=4;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0651;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0331;AN=4;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.12;CAF_dbsnp_common_v150_hg19_refseq=,0.9127|0.08726;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001281739.2:c.1035C>T|_NM_001281740.2:c.1035C>T|_NM_025135.4:c.1035C>T;Coding_region_change_in_longest_transcript=,NM_001281740.2:c.1035C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2262;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0447;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,163;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,FHOD3:80206;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:80206;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:80206;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:26178;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:26178;Homo_sapiens_refseq_GRCh37.p13_Genes=,FHOD3;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001281739.2|NM_025135.4|NM_001281740.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene34696;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna50618|rna50617|rna50616;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:609691;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:609691;Non-synonymous=,No;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene34696;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,34205551;RS_dbsnp_common_v150_hg19_refseq=,60414347;Read_count=,121;Read_coverage=,273;Read_direction_test_probability=,0.9994850373410397;Read_position_test_probability=,0.9232844396754856;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001281739.2|NM_025135.4|NM_001281740.2;Reverse_read_coverage=,110;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0562;SF=27,28,31,39;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.925922|0.0740779;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050100000305150536000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:80206|HGNC:HGNC:26178|MIM:609691;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001281739.2|Genbank:NM_025135.4|Genbank:NM_001281740.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,formin_homology_2_domain_containing_3;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,FHOD3;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,FHOD3;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,FHOS2|Formactin2;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,formin_homology_2_domain_containing_3|_transcript_variant_2|formin_homology_2_domain_containing_3|_transcript_variant_1|formin_homology_2_domain_containing_3|_transcript_variant_3;transcript_id=,NM_001281739.2|NM_025135.4|NM_001281740.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FHOD3:NM_001281739:exon10:c.C1035T:p.S345S,FHOD3:NM_001281740:exon10:c.C1035T:p.S345S,FHOD3:NM_025135:exon10:c.C1035T:p.S345S;cytoBand=18q12.2;genomicSuperDups=.;esp6500siv2_all=0.0656;esp6500siv2_ea=0.0604;esp6500siv2_all=0.0656;esp6500siv2_ea=0.0604;1000g2015aug_all=0.0872604;avsnp147=rs60414347;Kaviar_AF=0.0643135;Kaviar_AC=9943;Kaviar_AN=154602;ExAC_ALL=0.0669;ExAC_AFR=0.0823;ExAC_AMR=0.0233;ExAC_EAS=0.2172;ExAC_FIN=0.0204;ExAC_NFE=0.0594;ExAC_OTH=0.0554;ExAC_SAS=0.0567;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=0.998;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=1.25;FATHMM_pred=T;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=2.410;CADD_phred=18.89;DANN_score=0.862;fathmm-MKL_coding_score=0.312;fathmm-MKL_coding_pred=N;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=0.938;phyloP7way_vertebrate=0.033;phyloP20way_mammalian=-0.343;phastCons7way_vertebrate=0.982;phastCons20way_mammalian=0.962;SiPhy_29way_logOdds=9.548;GDI_full_10282015=.;dpsi_max_tissue=-0.0579;dpsi_zscore=-0.299;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0617;gnomAD_exome_AFR=0.0759;gnomAD_exome_AMR=0.0239;gnomAD_exome_ASJ=0.0814;gnomAD_exome_EAS=0.2221;gnomAD_exome_FIN=0.0206;gnomAD_exome_NFE=0.0583;gnomAD_exome_OTH=0.0552;gnomAD_exome_SAS=0.0486;gnomAD_genome_ALL=0.0677;gnomAD_genome_AFR=0.0815;gnomAD_genome_AMR=0.0263;gnomAD_genome_ASJ=0.08;gnomAD_genome_EAS=0.2454;gnomAD_genome_FIN=0.0192;gnomAD_genome_NFE=0.0555;gnomAD_genome_OTH=0.0418;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:235:0,106 1:282:0,155 . . 1:128:0,56 . . . . . . . 1:229:0,91 . . 18 34232543 rs62083981 G A 200.00 . #_unique_end_positions=,42;#_unique_start_positions=,42;AC=3;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0144;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0115;AN=3;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001268669.1:p.Ala433Thr;Amino_acid_change_in_longest_transcript=,NP_001268669.1:p.Ala433Thr;BaseQRankSum=,-0.03;CAF_dbsnp_common_v150_hg19_refseq=,0.9834|0.01657;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001281739.2:c.1197-5495G>A|_NM_001281740.2:c.1297G>A|_NM_025135.4:c.1197-5495G>A;Coding_region_change_in_longest_transcript=,NM_001281740.2:c.1297G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0298;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,100;GENEINFO_dbsnp_common_v150_hg19_refseq=,FHOD3:80206;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:80206;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:80206;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:26178;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:26178;Homo_sapiens_refseq_GRCh37.p13_Genes=,FHOD3;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001281740.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene34696;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna50616;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:609691;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:609691;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene34696;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,34232543;RS_dbsnp_common_v150_hg19_refseq=,62083981;Read_count=,69;Read_coverage=,151;Read_direction_test_probability=,0.9180072542555107;Read_position_test_probability=,0.9205315435233135;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001281740.2;Reverse_read_coverage=,51;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0266;SF=15,16,25;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.98015|0.0198503;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050100080a0514003e000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.08;db_xref=,GeneID:80206|HGNC:HGNC:26178|MIM:609691;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001281740.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,formin_homology_2_domain_containing_3;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,FHOD3;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,FHOD3;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,FHOS2|Formactin2;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,formin_homology_2_domain_containing_3|_transcript_variant_3;transcript_id=,NM_001281740.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FHOD3:NM_001281740:exon12:c.G1297A:p.A433T;cytoBand=18q12.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.0165735;avsnp147=rs62083981;Kaviar_AF=0.0063971;Kaviar_AC=989;Kaviar_AN=154602;ExAC_ALL=0.0340;ExAC_AFR=0.0093;ExAC_AMR=0.0063;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0383;ExAC_OTH=0.0455;ExAC_SAS=0.0352;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=1.58;FATHMM_pred=T;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=-0.091;CADD_phred=1.795;DANN_score=0.649;fathmm-MKL_coding_score=0.035;fathmm-MKL_coding_pred=N;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=0.615;integrated_confidence_value=0;GERP++_RS=0.197;phyloP7way_vertebrate=-1.190;phyloP20way_mammalian=-1.170;phastCons7way_vertebrate=0.002;phastCons20way_mammalian=0.000;SiPhy_29way_logOdds=3.929;GDI_full_10282015=.;dpsi_max_tissue=-0.7188;dpsi_zscore=-1.285;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0222;gnomAD_exome_AFR=0.0157;gnomAD_exome_AMR=0.0084;gnomAD_exome_ASJ=0.0307;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0371;gnomAD_exome_NFE=0.0274;gnomAD_exome_OTH=0.0162;gnomAD_exome_SAS=0.0317;gnomAD_genome_ALL=0.0237;gnomAD_genome_AFR=0.0202;gnomAD_genome_AMR=0.0131;gnomAD_genome_ASJ=0.0265;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0398;gnomAD_genome_NFE=0.0249;gnomAD_genome_OTH=0.0276;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . . . . . . . 1:135:0,61 1:104:0,52 . . . . . . . . 1:116:0,60 . . . . . . . . . . . . . . . . 18 34232610 rs2848901 C T 200.00 . #_unique_end_positions=,40;#_unique_start_positions=,40;AC=18;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2958;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4467;AN=18;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001268669.1:p.Ser455Leu;Amino_acid_change_in_longest_transcript=,NP_001268669.1:p.Ser455Leu;BaseQRankSum=,-0.17;CAF_dbsnp_common_v150_hg19_refseq=,0.6805|0.3195;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001281739.2:c.1197-5428C>T|_NM_001281740.2:c.1364C>T|_NM_025135.4:c.1197-5428C>T;Coding_region_change_in_longest_transcript=,NM_001281740.2:c.1364C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1825;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2863;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,101;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,FHOD3:80206;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:80206;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:80206;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:26178;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:26178;Homo_sapiens_refseq_GRCh37.p13_Genes=,FHOD3;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001281740.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene34696;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna50616;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:609691;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:609691;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene34696;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,34232610;RS_dbsnp_common_v150_hg19_refseq=,2848901;Read_count=,68;Read_coverage=,148;Read_direction_test_probability=,0.9686870069717739;Read_position_test_probability=,0.7972217052608449;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001281740.2;Reverse_read_coverage=,47;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4366;SF=2,8,10,11,14,17,18,19,22,24,30,35,37,39;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.703688|0.296312;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050100080a05170537000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.285714;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.261062;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.207317;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.164706;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.460227;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.267442;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.258824;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.294444;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.479592;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.34965;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.267045;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.234513;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.014;db_xref=,GeneID:80206|HGNC:HGNC:26178|MIM:609691;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001281740.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,formin_homology_2_domain_containing_3;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,FHOD3;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,FHOD3;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,FHOS2|Formactin2;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,formin_homology_2_domain_containing_3|_transcript_variant_3;transcript_id=,NM_001281740.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FHOD3:NM_001281740:exon12:c.C1364T:p.S455L;cytoBand=18q12.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.319489;avsnp147=rs2848901;Kaviar_AF=0.0853482;Kaviar_AC=13195;Kaviar_AN=154602;ExAC_ALL=0.3820;ExAC_AFR=0.3155;ExAC_AMR=0.5;ExAC_EAS=0.1888;ExAC_FIN=0.25;ExAC_NFE=0.3083;ExAC_OTH=0.2846;ExAC_SAS=0.4253;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=1.34;FATHMM_pred=T;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=1.357;CADD_phred=12.57;DANN_score=0.804;fathmm-MKL_coding_score=0.403;fathmm-MKL_coding_pred=N;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=0.615;integrated_confidence_value=0;GERP++_RS=5.37;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.826;phastCons7way_vertebrate=0.031;phastCons20way_mammalian=0.013;SiPhy_29way_logOdds=15.833;GDI_full_10282015=.;dpsi_max_tissue=-0.8262;dpsi_zscore=-1.362;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3350;gnomAD_exome_AFR=0.2950;gnomAD_exome_AMR=0.4875;gnomAD_exome_ASJ=0.2973;gnomAD_exome_EAS=0.1699;gnomAD_exome_FIN=0.1841;gnomAD_exome_NFE=0.2812;gnomAD_exome_OTH=0.3288;gnomAD_exome_SAS=0.4271;gnomAD_genome_ALL=0.2691;gnomAD_genome_AFR=0.2800;gnomAD_genome_AMR=0.4761;gnomAD_genome_ASJ=0.2616;gnomAD_genome_EAS=0.1691;gnomAD_genome_FIN=0.1806;gnomAD_genome_NFE=0.2817;gnomAD_genome_OTH=0.2848;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . 1:138:0,65 . . . . . 1:152:0,70 . 1:192:0,82 1:145:0,70 . . 1:265:0,133 . . 1:173:0,85 1:132:0,63 1:159:0,68 . . 1/1:215:0,215 . 1:214:0,100 . . . . . 1/1:144:0,144 . . . . 1/1:158:0,158 . 1/1:94:0,94 . 1:176:0,65 . . 18 34232657 rs72895597 G A 200.00 . #_unique_end_positions=,63;#_unique_start_positions=,55;AC=13;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0091;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1110;AN=13;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001268669.1:p.Gly471Arg;Amino_acid_change_in_longest_transcript=,NP_001268669.1:p.Gly471Arg;BaseQRankSum=,0.07;CAF_dbsnp_common_v150_hg19_refseq=,0.9297|0.07029;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001281739.2:c.1197-5381G>A|_NM_001281740.2:c.1411G>A|_NM_025135.4:c.1197-5381G>A;Coding_region_change_in_longest_transcript=,NM_001281740.2:c.1411G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0020;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2028;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,108;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,FHOD3:80206;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:80206;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:80206;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:26178;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:26178;Homo_sapiens_refseq_GRCh37.p13_Genes=,FHOD3;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001281740.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene34696;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna50616;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:609691;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:609691;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene34696;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,34232657;RS_dbsnp_common_v150_hg19_refseq=,72895597;Read_count=,131;Read_coverage=,228;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.8605318346575418;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001281740.2;Reverse_read_coverage=,120;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0583;SF=13,15,16,20,21,23,25,26,27,33,34,36,38;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.905042|0.0949584;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050100080a0515003e000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.0;db_xref=,GeneID:80206|HGNC:HGNC:26178|MIM:609691;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001281740.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,formin_homology_2_domain_containing_3;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,FHOD3;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,FHOD3;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,FHOS2|Formactin2;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,formin_homology_2_domain_containing_3|_transcript_variant_3;transcript_id=,NM_001281740.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FHOD3:NM_001281740:exon12:c.G1411A:p.G471R;cytoBand=18q12.2;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.0702875;avsnp147=rs72895597;Kaviar_AF=0.0329427;Kaviar_AC=5093;Kaviar_AN=154602;ExAC_ALL=0.1013;ExAC_AFR=0.0309;ExAC_AMR=0.0851;ExAC_EAS=0;ExAC_FIN=0.3333;ExAC_NFE=0.1429;ExAC_OTH=0.1567;ExAC_SAS=0.0885;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=1.55;FATHMM_pred=T;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=-0.089;CADD_phred=1.816;DANN_score=0.424;fathmm-MKL_coding_score=0.024;fathmm-MKL_coding_pred=N;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=0.615;integrated_confidence_value=0;GERP++_RS=-0.555;phyloP7way_vertebrate=-1.573;phyloP20way_mammalian=-3.821;phastCons7way_vertebrate=0.000;phastCons20way_mammalian=0.000;SiPhy_29way_logOdds=0.637;GDI_full_10282015=.;dpsi_max_tissue=0.2012;dpsi_zscore=0.725;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1186;gnomAD_exome_AFR=0.0271;gnomAD_exome_AMR=0.0735;gnomAD_exome_ASJ=0.1186;gnomAD_exome_EAS=0.0034;gnomAD_exome_FIN=0.2220;gnomAD_exome_NFE=0.1779;gnomAD_exome_OTH=0.1275;gnomAD_exome_SAS=0.0849;gnomAD_genome_ALL=0.1284;gnomAD_genome_AFR=0.0388;gnomAD_genome_AMR=0.0789;gnomAD_genome_ASJ=0.1258;gnomAD_genome_EAS=0.0031;gnomAD_genome_FIN=0.2302;gnomAD_genome_NFE=0.1720;gnomAD_genome_OTH=0.1471;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . . . . . 1:207:0,119 . 1:201:0,100 1:195:0,93 . . . 1:142:0,73 1:195:0,98 . 1:235:0,121 . 1:152:0,78 1:153:0,79 1:209:0,112 . . . . . 1:141:0,76 1:204:0,91 . 1:153:0,77 . 1:131:0,70 . . . 18 34238099 rs140934653 C T 135.97 . #_unique_end_positions=,15;#_unique_start_positions=,13;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0014;AN=1;Amino_acid_change=,NP_001268668.1:p.Pro420Ser|_NP_001268669.1:p.Pro595Ser|_NP_079411.2:p.Pro420Ser;Amino_acid_change_in_longest_transcript=,NP_001268669.1:p.Pro595Ser;BaseQRankSum=,0.0;Coding_region_change=,NM_001281739.2:c.1258C>T|_NM_001281740.2:c.1783C>T|_NM_025135.4:c.1258C>T;Coding_region_change_in_longest_transcript=,NM_001281740.2:c.1783C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;Exact_match=,1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,29;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:80206;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:80206;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:26178;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:26178;Homo_sapiens_refseq_GRCh37.p13_Genes=,FHOD3;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001281739.2|NM_025135.4|NM_001281740.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene34696;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna50618|rna50617|rna50616;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:609691;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:609691;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene34696;QUAL=,135.9665492319055;Read_count=,20;Read_coverage=,45;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.6976695021381438;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001281739.2|NM_025135.4|NM_001281740.2;Reverse_read_coverage=,16;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0020;SF=1;conservation_score=,0.423;db_xref=,GeneID:80206|HGNC:HGNC:26178|MIM:609691;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001281739.2|Genbank:NM_025135.4|Genbank:NM_001281740.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,formin_homology_2_domain_containing_3;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,FHOD3;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,FHOD3;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,FHOS2|Formactin2;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,formin_homology_2_domain_containing_3|_transcript_variant_2|formin_homology_2_domain_containing_3|_transcript_variant_1|formin_homology_2_domain_containing_3|_transcript_variant_3;transcript_id=,NM_001281739.2|NM_025135.4|NM_001281740.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FHOD3:NM_001281739:exon11:c.C1258T:p.P420S,FHOD3:NM_025135:exon11:c.C1258T:p.P420S,FHOD3:NM_001281740:exon14:c.C1783T:p.P595S;cytoBand=18q12.2;genomicSuperDups=.;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=0.000599042;avsnp147=rs140934653;Kaviar_AF=0.0004075;Kaviar_AC=63;Kaviar_AN=154602;ExAC_ALL=0.0004;ExAC_AFR=0;ExAC_AMR=0.0004;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0003;ExAC_OTH=0;ExAC_SAS=0.0016;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.981;SIFT_pred=T;Polyphen2_HDIV_score=0.007;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.005;Polyphen2_HVAR_pred=B;LRT_score=0.016;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=0.235;MutationAssessor_pred=N;FATHMM_score=2.14;FATHMM_pred=T;PROVEAN_score=-1.65;PROVEAN_pred=N;VEST3_score=0.245;CADD_raw=1.651;CADD_phred=14.13;DANN_score=0.875;fathmm-MKL_coding_score=0.378;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.006;MetaSVM_pred=T;MetaLR_score=0.014;MetaLR_pred=T;integrated_fitCons_score=0.706;integrated_confidence_value=0;GERP++_RS=1.42;phyloP7way_vertebrate=0.008;phyloP20way_mammalian=0.077;phastCons7way_vertebrate=0.003;phastCons20way_mammalian=0.013;SiPhy_29way_logOdds=3.824;GDI_full_10282015=.;dpsi_max_tissue=1.0943;dpsi_zscore=1.576;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0003;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0002;gnomAD_exome_ASJ=0.0003;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0003;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=0.0014;gnomAD_genome_ALL=6.461e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.665e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:DP:CLCAD2 . 1:38:0,18 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 18 34273279 rs61735993 C G 200.00 . #_unique_end_positions=,44;#_unique_start_positions=,40;AC=13;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0635;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1196;AN=13;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001268668.1:p.Ala518Gly|_NP_079411.2:p.Ala535Gly|_NP_001268669.1:p.Ala710Gly;Amino_acid_change_in_longest_transcript=,NP_001268669.1:p.Ala710Gly;BaseQRankSum=,0.14;CAF_dbsnp_common_v150_hg19_refseq=,0.9097|0.09026;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001281739.2:c.1553C>G|_NM_001281740.2:c.2129C>G|_NM_025135.4:c.1604C>G;Coding_region_change_in_longest_transcript=,NM_001281740.2:c.2129C>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2187;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,60;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,FHOD3:80206;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:80206;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:80206;Genotype=,C/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:26178;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:26178;Homo_sapiens_refseq_GRCh37.p13_Genes=,FHOD3;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001281739.2|NM_025135.4|NM_001281740.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene34696;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna50618|rna50617|rna50616;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:609691;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:609691;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene34696;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,34273279;RS_dbsnp_common_v150_hg19_refseq=,61735993;Read_count=,78;Read_coverage=,158;Read_direction_test_probability=,0.9999126599374121;Read_position_test_probability=,0.9982664979215731;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001281739.2|NM_025135.4|NM_001281740.2;Reverse_read_coverage=,98;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0654;SF=13,15,16,20,21,23,25,26,27,33,34,36,38;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.88028|0.11972;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050100000a0515013e000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.974;db_xref=,GeneID:80206|HGNC:HGNC:26178|MIM:609691;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001281739.2|Genbank:NM_025135.4|Genbank:NM_001281740.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,formin_homology_2_domain_containing_3;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,FHOD3;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,FHOD3;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,FHOS2|Formactin2;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,formin_homology_2_domain_containing_3|_transcript_variant_2|formin_homology_2_domain_containing_3|_transcript_variant_1|formin_homology_2_domain_containing_3|_transcript_variant_3;transcript_id=,NM_001281739.2|NM_025135.4|NM_001281740.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FHOD3:NM_001281739:exon13:c.C1553G:p.A518G,FHOD3:NM_025135:exon14:c.C1604G:p.A535G,FHOD3:NM_001281740:exon17:c.C2129G:p.A710G;cytoBand=18q12.2;genomicSuperDups=.;esp6500siv2_all=0.1443;esp6500siv2_ea=0.1810;esp6500siv2_all=0.1443;esp6500siv2_ea=0.1810;1000g2015aug_all=0.0902556;avsnp147=rs61735993;Kaviar_AF=0.136745;Kaviar_AC=21141;Kaviar_AN=154602;ExAC_ALL=0.1358;ExAC_AFR=0.0675;ExAC_AMR=0.0729;ExAC_EAS=0;ExAC_FIN=0.2008;ExAC_NFE=0.1783;ExAC_OTH=0.1723;ExAC_SAS=0.0937;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.057;SIFT_pred=T;Polyphen2_HDIV_score=0.994;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.97;Polyphen2_HVAR_pred=D;LRT_score=0.006;LRT_pred=N;MutationTaster_score=0.834;MutationTaster_pred=P;MutationAssessor_score=1.78;MutationAssessor_pred=L;FATHMM_score=2.15;FATHMM_pred=T;PROVEAN_score=-1.24;PROVEAN_pred=N;VEST3_score=0.047;CADD_raw=1.318;CADD_phred=12.36;DANN_score=0.995;fathmm-MKL_coding_score=0.938;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.099;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=4.69;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.883;phastCons7way_vertebrate=0.260;phastCons20way_mammalian=0.073;SiPhy_29way_logOdds=11.351;GDI_full_10282015=.;dpsi_max_tissue=-0.0543;dpsi_zscore=-0.284;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1340;gnomAD_exome_AFR=0.0661;gnomAD_exome_AMR=0.0773;gnomAD_exome_ASJ=0.1421;gnomAD_exome_EAS=0.0003;gnomAD_exome_FIN=0.1923;gnomAD_exome_NFE=0.1802;gnomAD_exome_OTH=0.1418;gnomAD_exome_SAS=0.0910;gnomAD_genome_ALL=0.1384;gnomAD_genome_AFR=0.0765;gnomAD_genome_AMR=0.0919;gnomAD_genome_ASJ=0.1391;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.1993;gnomAD_genome_NFE=0.1770;gnomAD_genome_OTH=0.15;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . . . . . 1:137:0,66 . 1:126:0,70 1:181:0,106 . . . 1:123:0,70 1:168:0,74 . 1:140:0,79 . 1:120:0,63 1:142:0,72 1:183:0,77 . . . . . 1:105:0,58 1:140:0,64 . 1:113:0,61 . 1:95:0,50 . . . 18 34273358 rs150630527 C A 200.00 . #_unique_end_positions=,35;#_unique_start_positions=,34;AC=2;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0014;AN=2;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.45;CAF_dbsnp_common_v150_hg19_refseq=,0.9982|0.001797;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001281739.2:c.1632C>A|_NM_001281740.2:c.2208C>A|_NM_025135.4:c.1683C>A;Coding_region_change_in_longest_transcript=,NM_001281740.2:c.2208C>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0020;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,28;GENEINFO_dbsnp_common_v150_hg19_refseq=,FHOD3:80206;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:80206;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:80206;Genotype=,A/C;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:26178;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:26178;Homo_sapiens_refseq_GRCh37.p13_Genes=,FHOD3;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001281739.2|NM_025135.4|NM_001281740.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene34696;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna50618|rna50617|rna50616;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:609691;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:609691;Non-synonymous=,No;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene34696;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,34273358;RS_dbsnp_common_v150_hg19_refseq=,150630527;Read_count=,64;Read_coverage=,111;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9667984825784868;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001281739.2|NM_025135.4|NM_001281740.2;Reverse_read_coverage=,83;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0061;SF=0,1;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.99818|0.00182018;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050000000305040036000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.928;db_xref=,GeneID:80206|HGNC:HGNC:26178|MIM:609691;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001281739.2|Genbank:NM_025135.4|Genbank:NM_001281740.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,formin_homology_2_domain_containing_3;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,FHOD3;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,FHOD3;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,FHOS2|Formactin2;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,formin_homology_2_domain_containing_3|_transcript_variant_2|formin_homology_2_domain_containing_3|_transcript_variant_1|formin_homology_2_domain_containing_3|_transcript_variant_3;transcript_id=,NM_001281739.2|NM_025135.4|NM_001281740.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FHOD3:NM_001281739:exon13:c.C1632A:p.S544S,FHOD3:NM_025135:exon14:c.C1683A:p.S561S,FHOD3:NM_001281740:exon17:c.C2208A:p.S736S;cytoBand=18q12.2;genomicSuperDups=.;esp6500siv2_all=0.0031;esp6500siv2_ea=0.0042;esp6500siv2_all=0.0031;esp6500siv2_ea=0.0042;1000g2015aug_all=0.00179712;avsnp147=rs150630527;Kaviar_AF=0.0034023;Kaviar_AC=526;Kaviar_AN=154602;ExAC_ALL=0.0034;ExAC_AFR=0.0008;ExAC_AMR=0.0060;ExAC_EAS=0.0002;ExAC_FIN=0.0011;ExAC_NFE=0.0037;ExAC_OTH=0.0023;ExAC_SAS=0.0047;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.2295;dpsi_zscore=0.778;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0033;gnomAD_exome_AFR=0.0009;gnomAD_exome_AMR=0.0037;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0.0012;gnomAD_exome_NFE=0.0041;gnomAD_exome_OTH=0.0059;gnomAD_exome_SAS=0.0053;gnomAD_genome_ALL=0.0026;gnomAD_genome_AFR=0.0014;gnomAD_genome_AMR=0.0072;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0006;gnomAD_genome_NFE=0.0037;gnomAD_genome_OTH=0.0031;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:DP:CLCAD2 1:95:0,55 1:102:0,55 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 18 34289142 rs61735994 A G 200.00 . #_unique_end_positions=,52;#_unique_start_positions=,42;AC=2;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0030;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0187;AN=2;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_079411.2:p.Gln599Arg|_NP_001268668.1:p.Gln582Arg|_NP_001268669.1:p.Gln774Arg;Amino_acid_change_in_longest_transcript=,NP_001268669.1:p.Gln774Arg;BaseQRankSum=,-0.04;CAF_dbsnp_common_v150_hg19_refseq=,0.985|0.01498;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001281739.2:c.1745A>G|_NM_001281740.2:c.2321A>G|_NM_025135.4:c.1796A>G;Coding_region_change_in_longest_transcript=,NM_001281740.2:c.2321A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0368;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,118;GENEINFO_dbsnp_common_v150_hg19_refseq=,FHOD3:80206;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:80206;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:80206;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:26178;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:26178;Homo_sapiens_refseq_GRCh37.p13_Genes=,FHOD3;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001281739.2|NM_025135.4|NM_001281740.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene34696;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna50618|rna50617|rna50616;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:609691;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:609691;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene34696;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,34289142;RS_dbsnp_common_v150_hg19_refseq=,61735994;Read_count=,99;Read_coverage=,201;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.4252470820668719;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001281739.2|NM_025135.4|NM_001281740.2;Reverse_read_coverage=,83;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0215;SF=8,30;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.97802|0.0219795;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050100000a05140536000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.001;db_xref=,GeneID:80206|HGNC:HGNC:26178|MIM:609691;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001281739.2|Genbank:NM_025135.4|Genbank:NM_001281740.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,formin_homology_2_domain_containing_3;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,FHOD3;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,FHOD3;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,FHOS2|Formactin2;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,formin_homology_2_domain_containing_3|_transcript_variant_2|formin_homology_2_domain_containing_3|_transcript_variant_1|formin_homology_2_domain_containing_3|_transcript_variant_3;transcript_id=,NM_001281739.2|NM_025135.4|NM_001281740.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FHOD3:NM_001281739:exon14:c.A1745G:p.Q582R,FHOD3:NM_025135:exon15:c.A1796G:p.Q599R,FHOD3:NM_001281740:exon18:c.A2321G:p.Q774R;cytoBand=18q12.2;genomicSuperDups=.;esp6500siv2_all=0.0241;esp6500siv2_ea=0.0335;esp6500siv2_all=0.0241;esp6500siv2_ea=0.0335;1000g2015aug_all=0.014976;avsnp147=rs61735994;Kaviar_AF=0.027891;Kaviar_AC=4312;Kaviar_AN=154602;ExAC_ALL=0.0287;ExAC_AFR=0.0056;ExAC_AMR=0.0172;ExAC_EAS=0.0003;ExAC_FIN=0.0256;ExAC_NFE=0.0385;ExAC_OTH=0.05;ExAC_SAS=0.0268;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.463;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.463;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=2.2;FATHMM_pred=T;PROVEAN_score=-1.18;PROVEAN_pred=N;VEST3_score=0.012;CADD_raw=-1.504;CADD_phred=0.003;DANN_score=0.379;fathmm-MKL_coding_score=0.196;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.034;MetaSVM_pred=T;MetaLR_score=0.008;MetaLR_pred=T;integrated_fitCons_score=0.638;integrated_confidence_value=0;GERP++_RS=-8.78;phyloP7way_vertebrate=-0.839;phyloP20way_mammalian=0.109;phastCons7way_vertebrate=0.013;phastCons20way_mammalian=0.180;SiPhy_29way_logOdds=8.720;GDI_full_10282015=.;dpsi_max_tissue=1.0492;dpsi_zscore=1.549;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0281;gnomAD_exome_AFR=0.0050;gnomAD_exome_AMR=0.0185;gnomAD_exome_ASJ=0.0612;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0.0250;gnomAD_exome_NFE=0.0360;gnomAD_exome_OTH=0.0368;gnomAD_exome_SAS=0.0275;gnomAD_genome_ALL=0.0221;gnomAD_genome_AFR=0.0070;gnomAD_genome_AMR=0.0203;gnomAD_genome_ASJ=0.0497;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0240;gnomAD_genome_NFE=0.0318;gnomAD_genome_OTH=0.0296;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . 1:183:0,87 . . . . . . . . . . . . . . . . . . . . . 1:174:0,87 . . . . . . . . . . . 18 34298542 rs78740177 G A 200.00 . #_unique_end_positions=,48;#_unique_start_positions=,41;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0129;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_079411.2:p.Arg919Gln|_NP_001268669.1:p.Arg1094Gln|_NP_001268668.1:p.Arg902Gln;Amino_acid_change_in_longest_transcript=,NP_001268669.1:p.Arg1094Gln;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.9962|0.003794;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001281739.2:c.2705G>A|_NM_001281740.2:c.3281G>A|_NM_025135.4:c.2756G>A;Coding_region_change_in_longest_transcript=,NM_001281740.2:c.3281G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0020;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,86;GENEINFO_dbsnp_common_v150_hg19_refseq=,FHOD3:80206;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:80206;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:80206;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:26178;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:26178;Homo_sapiens_refseq_GRCh37.p13_Genes=,FHOD3;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001281739.2|NM_025135.4|NM_001281740.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene34696;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna50618|rna50617|rna50616;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:609691;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:609691;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene34696;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,34298542;RS_dbsnp_common_v150_hg19_refseq=,78740177;Read_count=,70;Read_coverage=,111;Read_direction_test_probability=,0.9912634190528343;Read_position_test_probability=,0.9824206687956333;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001281739.2|NM_025135.4|NM_001281740.2;Reverse_read_coverage=,25;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=9;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.994608|0.00539185;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050100000a05040436000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:80206|HGNC:HGNC:26178|MIM:609691;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001281739.2|Genbank:NM_025135.4|Genbank:NM_001281740.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,formin_homology_2_domain_containing_3;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,FHOD3;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,FHOD3;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,FHOS2|Formactin2;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,formin_homology_2_domain_containing_3|_transcript_variant_2|formin_homology_2_domain_containing_3|_transcript_variant_1|formin_homology_2_domain_containing_3|_transcript_variant_3;transcript_id=,NM_001281739.2|NM_025135.4|NM_001281740.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FHOD3:NM_001281739:exon15:c.G2705A:p.R902Q,FHOD3:NM_025135:exon16:c.G2756A:p.R919Q,FHOD3:NM_001281740:exon19:c.G3281A:p.R1094Q;cytoBand=18q12.2;genomicSuperDups=.;esp6500siv2_all=0.0040;esp6500siv2_ea=0.0023;esp6500siv2_all=0.0040;esp6500siv2_ea=0.0023;1000g2015aug_all=0.00379393;avsnp147=rs78740177;Kaviar_AF=0.0023932;Kaviar_AC=370;Kaviar_AN=154602;ExAC_ALL=0.0025;ExAC_AFR=0.0124;ExAC_AMR=0.0034;ExAC_EAS=0.0001;ExAC_FIN=0;ExAC_NFE=0.0018;ExAC_OTH=0.0077;ExAC_SAS=0.0006;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.169;SIFT_pred=T;Polyphen2_HDIV_score=0.829;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.133;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=0.56;MutationAssessor_pred=N;FATHMM_score=2.28;FATHMM_pred=T;PROVEAN_score=-2.11;PROVEAN_pred=N;VEST3_score=0.356;CADD_raw=3.308;CADD_phred=22.9;DANN_score=1.000;fathmm-MKL_coding_score=0.950;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.026;MetaSVM_pred=T;MetaLR_score=0.017;MetaLR_pred=T;integrated_fitCons_score=0.615;integrated_confidence_value=0;GERP++_RS=4.46;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.953;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=0.988;SiPhy_29way_logOdds=15.686;GDI_full_10282015=.;dpsi_max_tissue=-0.0507;dpsi_zscore=-0.268;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0026;gnomAD_exome_AFR=0.0129;gnomAD_exome_AMR=0.0043;gnomAD_exome_ASJ=0.0001;gnomAD_exome_EAS=5.798e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0022;gnomAD_exome_OTH=0.0044;gnomAD_exome_SAS=0.0008;gnomAD_genome_ALL=0.0047;gnomAD_genome_AFR=0.0130;gnomAD_genome_AMR=0.0072;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0017;gnomAD_genome_OTH=0.0020;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:DP:CLCAD2 . . . . . . . . . 1:106:0,66 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 18 34310668 rs3744903 C T 152.16 . #_unique_end_positions=,18;#_unique_start_positions=,16;AC=25;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1505;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4452;AN=25;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.23;CAF_dbsnp_common_v150_hg19_refseq=,0.6805|0.3195;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001281739.2:c.2901C>T|_NM_001281740.2:c.3477C>T|_NM_025135.4:c.2952C>T;Coding_region_change_in_longest_transcript=,NM_001281740.2:c.3477C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3194;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3161;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,23;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,FHOD3:80206;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:80206;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:80206;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:26178;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:26178;Homo_sapiens_refseq_GRCh37.p13_Genes=,FHOD3;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001281739.2|NM_025135.4|NM_001281740.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene34696;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna50618|rna50617|rna50616;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:609691;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:609691;MTP_dbsnp_common_v150_hg19_refseq=,MTP;Non-synonymous=,No;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene34696;QUAL=,151.7643851980736;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,34310668;RS_dbsnp_common_v150_hg19_refseq=,3744903;Read_count=,23;Read_coverage=,50;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9253389300150187;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001281739.2|NM_025135.4|NM_001281740.2;Reverse_read_coverage=,27;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4622;SF=2,4,8,9,10,11,14,17,18,19,20,22,24,28,30,35,37,39;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.719211|0.280789;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05012800030517053f020101;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.135417;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.316667;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.353659;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.259036;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.539773;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.355556;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.366667;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.172222;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.46;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.297203;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.301136;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0666667;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.928;db_xref=,GeneID:80206|HGNC:HGNC:26178|MIM:609691;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001281739.2|Genbank:NM_025135.4|Genbank:NM_001281740.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,formin_homology_2_domain_containing_3;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,FHOD3;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,FHOD3;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,FHOS2|Formactin2;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,formin_homology_2_domain_containing_3|_transcript_variant_2|formin_homology_2_domain_containing_3|_transcript_variant_1|formin_homology_2_domain_containing_3|_transcript_variant_3;transcript_id=,NM_001281739.2|NM_025135.4|NM_001281740.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FHOD3:NM_001281739:exon16:c.C2901T:p.N967N,FHOD3:NM_025135:exon17:c.C2952T:p.N984N,FHOD3:NM_001281740:exon20:c.C3477T:p.N1159N;cytoBand=18q12.2;genomicSuperDups=.;esp6500siv2_all=0.2905;esp6500siv2_ea=0.3427;esp6500siv2_all=0.2905;esp6500siv2_ea=0.3427;1000g2015aug_all=0.319489;avsnp147=rs3744903;Kaviar_AF=0.33768;Kaviar_AC=52206;Kaviar_AN=154602;ExAC_ALL=0.3420;ExAC_AFR=0.1838;ExAC_AMR=0.5016;ExAC_EAS=0.3005;ExAC_FIN=0.2770;ExAC_NFE=0.3239;ExAC_OTH=0.3756;ExAC_SAS=0.4489;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.2136;dpsi_zscore=-0.713;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3510;gnomAD_exome_AFR=0.1815;gnomAD_exome_AMR=0.4927;gnomAD_exome_ASJ=0.3068;gnomAD_exome_EAS=0.2959;gnomAD_exome_FIN=0.2802;gnomAD_exome_NFE=0.3299;gnomAD_exome_OTH=0.3583;gnomAD_exome_SAS=0.4522;gnomAD_genome_ALL=0.2858;gnomAD_genome_AFR=0.1773;gnomAD_genome_AMR=0.4785;gnomAD_genome_ASJ=0.2781;gnomAD_genome_EAS=0.3035;gnomAD_genome_FIN=0.2723;gnomAD_genome_NFE=0.3368;gnomAD_genome_OTH=0.3289;Whole_Blood=Whole_Blood::0.33288::-0.170279;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . 1:46:0,21 . 1/1:27:0,27 . . . 1/1:45:0,45 1:34:0,11 1:58:0,22 1:48:0,22 . . 1:60:0,25 . . 1:41:0,25 1/1:34:0,34 1/1:34:0,34 1:71:0,43 . 1/1:52:0,52 . 1:55:0,20 . . . 1:58:0,24 . 1/1:47:0,47 . . . . 1:46:0,21 . 1/1:37:0,37 . 1:52:0,26 . . 18 34324091 rs2303510 G A 192.12 . #_unique_end_positions=,27;#_unique_start_positions=,25;AC=23;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4100;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3890;AN=23;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001268669.1:p.Val1326Ile|_NP_079411.2:p.Val1151Ile|_NP_001268668.1:p.Val1134Ile;Amino_acid_change_in_longest_transcript=,NP_001268669.1:p.Val1326Ile;BaseQRankSum=,0.16;CAF_dbsnp_common_v150_hg19_refseq=,0.6238|0.3762;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001281739.2:c.3400G>A|_NM_001281740.2:c.3976G>A|_NM_025135.4:c.3451G>A;Coding_region_change_in_longest_transcript=,NM_001281740.2:c.3976G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3204;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3042;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,53;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,FHOD3:80206;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:80206;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:80206;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:26178;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:26178;Homo_sapiens_refseq_GRCh37.p13_Genes=,FHOD3;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001281739.2|NM_025135.4|NM_001281740.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene34696;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna50618|rna50617|rna50616;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:609691;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:609691;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene34696;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,34324091;RS_dbsnp_common_v150_hg19_refseq=,2303510;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,37;Read_coverage=,97;Read_direction_test_probability=,0.673609772871411;Read_position_test_probability=,0.5963626936658959;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001281739.2|NM_025135.4|NM_001281740.2;Reverse_read_coverage=,44;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4530;SF=2,4,8,9,10,11,14,18,19,20,22,24,28,30,35,37;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.626176|0.373824;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050100000a0517053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.377551;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.283333;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.365854;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.276471;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.511364;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.355556;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.377778;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.405556;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.40625;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.405594;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.301136;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.358333;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:80206|HGNC:HGNC:26178|MIM:609691;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001281739.2|Genbank:NM_025135.4|Genbank:NM_001281740.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,formin_homology_2_domain_containing_3;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,FHOD3;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,FHOD3;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,FHOS2|Formactin2;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,formin_homology_2_domain_containing_3|_transcript_variant_2|formin_homology_2_domain_containing_3|_transcript_variant_1|formin_homology_2_domain_containing_3|_transcript_variant_3;transcript_id=,NM_001281739.2|NM_025135.4|NM_001281740.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FHOD3:NM_001281739:exon19:c.G3400A:p.V1134I,FHOD3:NM_025135:exon20:c.G3451A:p.V1151I,FHOD3:NM_001281740:exon23:c.G3976A:p.V1326I;cytoBand=18q12.2;genomicSuperDups=.;esp6500siv2_all=0.3555;esp6500siv2_ea=0.3263;esp6500siv2_all=0.3555;esp6500siv2_ea=0.3263;1000g2015aug_all=0.376198;avsnp147=rs2303510;Kaviar_AF=0.336212;Kaviar_AC=51979;Kaviar_AN=154602;ExAC_ALL=0.3415;ExAC_AFR=0.4148;ExAC_AMR=0.4085;ExAC_EAS=0.3013;ExAC_FIN=0.2648;ExAC_NFE=0.3054;ExAC_OTH=0.3620;ExAC_SAS=0.4450;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.147;SIFT_pred=T;Polyphen2_HDIV_score=0.976;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.622;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=0.73;MutationAssessor_pred=N;FATHMM_score=2.36;FATHMM_pred=T;PROVEAN_score=-0.44;PROVEAN_pred=N;VEST3_score=0.107;CADD_raw=3.145;CADD_phred=22.6;DANN_score=0.998;fathmm-MKL_coding_score=0.983;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.803;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.706;integrated_confidence_value=0;GERP++_RS=5.29;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=17.505;GDI_full_10282015=.;dpsi_max_tissue=1.7487;dpsi_zscore=1.882;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM131211#"Cardiomyopathy_hypertrophic_association_with";gnomAD_exome_ALL=0.3421;gnomAD_exome_AFR=0.4189;gnomAD_exome_AMR=0.4014;gnomAD_exome_ASJ=0.2872;gnomAD_exome_EAS=0.2966;gnomAD_exome_FIN=0.2708;gnomAD_exome_NFE=0.3112;gnomAD_exome_OTH=0.3386;gnomAD_exome_SAS=0.4468;gnomAD_genome_ALL=0.3346;gnomAD_genome_AFR=0.4000;gnomAD_genome_AMR=0.3807;gnomAD_genome_ASJ=0.2517;gnomAD_genome_EAS=0.3079;gnomAD_genome_FIN=0.2638;gnomAD_genome_NFE=0.3166;gnomAD_genome_OTH=0.3112;Whole_Blood=Whole_Blood::0.352304::-0.16943;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . 1:82:0,34 . 1/1:57:0,57 . . . 1/1:64:0,64 1:91:0,47 1:90:0,41 1:73:0,38 . . 1:98:0,44 . . . 1/1:73:0,73 1/1:83:0,83 1:86:0,38 . 1/1:95:0,95 . 1:82:0,33 . . . 1:92:0,50 . 1/1:94:0,94 . . . . 1:83:0,45 . 1/1:81:0,81 . . . . 18 34326982 rs16968267 G A 38.83 . #_unique_end_positions=,6;#_unique_start_positions=,5;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0552;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0029;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.28;CAF_dbsnp_common_v150_hg19_refseq=,0.985|0.01498;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001281739.2:c.3540G>A|_NM_001281740.2:c.4116G>A|_NM_025135.4:c.3591G>A;Coding_region_change_in_longest_transcript=,NM_001281740.2:c.4116G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,13;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,FHOD3:80206;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:80206;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:80206;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:26178;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:26178;Homo_sapiens_refseq_GRCh37.p13_Genes=,FHOD3;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001281739.2|NM_025135.4|NM_001281740.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene34696;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna50618|rna50617|rna50616;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:609691;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:609691;Non-synonymous=,No;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene34696;QUAL=,38.82684317697668;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,34326982;RS_dbsnp_common_v150_hg19_refseq=,16968267;Read_count=,7;Read_coverage=,19;Read_direction_test_probability=,0.9410317936878415;Read_position_test_probability=,0.893196972832415;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001281739.2|NM_025135.4|NM_001281740.2;Reverse_read_coverage=,6;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=25;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.975479|0.0245209;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050000000305150537000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.075;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:80206|HGNC:HGNC:26178|MIM:609691;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001281739.2|Genbank:NM_025135.4|Genbank:NM_001281740.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,formin_homology_2_domain_containing_3;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,FHOD3;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,FHOD3;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,FHOS2|Formactin2;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,formin_homology_2_domain_containing_3|_transcript_variant_2|formin_homology_2_domain_containing_3|_transcript_variant_1|formin_homology_2_domain_containing_3|_transcript_variant_3;transcript_id=,NM_001281739.2|NM_025135.4|NM_001281740.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FHOD3:NM_001281739:exon20:c.G3540A:p.K1180K,FHOD3:NM_025135:exon21:c.G3591A:p.K1197K,FHOD3:NM_001281740:exon24:c.G4116A:p.K1372K;cytoBand=18q12.2;genomicSuperDups=.;esp6500siv2_all=0.0183;esp6500siv2_ea=0.0002;esp6500siv2_all=0.0183;esp6500siv2_ea=0.0002;1000g2015aug_all=0.014976;avsnp147=rs16968267;Kaviar_AF=0.0046442;Kaviar_AC=718;Kaviar_AN=154602;ExAC_ALL=0.0049;ExAC_AFR=0.0548;ExAC_AMR=0.0022;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=2.999e-05;ExAC_OTH=0.0011;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0773;dpsi_zscore=0.408;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0039;gnomAD_exome_AFR=0.0555;gnomAD_exome_AMR=0.0026;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=4.478e-05;gnomAD_exome_OTH=0.0027;gnomAD_exome_SAS=3.25e-05;gnomAD_genome_ALL=0.0174;gnomAD_genome_AFR=0.0610;gnomAD_genome_AMR=0.0036;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0001;gnomAD_genome_OTH=0.0010;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . 1:18:0,6 . . . . . . . . . . . . . . . . 19 16591464 rs9305079 G A 123.78 . #_unique_end_positions=,14;#_unique_start_positions=,13;AC=63;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5318;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7493;AN=63;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.3494|0.6506|.;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_145046.4:c.972C>T;Coding_region_change_in_longest_transcript=,NM_145046.4:c.972C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6280;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6829;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,23;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,CALR3:125972;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:125972;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:125972;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:20407;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:20407;Homo_sapiens_refseq_GRCh37.p13_Genes=,CALR3;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_145046.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene35699;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna52202;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:611414;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:611414;NSN_dbsnp_common_v150_hg19_refseq=,NSN;Non-synonymous=,No;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene35699;QUAL=,125.06192666733236;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,16591464;RS_dbsnp_common_v150_hg19_refseq=,9305079;Read_count=,18;Read_coverage=,40;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9795020249077525;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_145046.4;Reverse_read_coverage=,17;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7311;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,24,25,26,27,28,29,30,31,32,33,34,35,37,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.355141|0.644859|.;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05030000070515053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.479592;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.690265;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.634146;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.630952;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.721591;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.674419;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.651163;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.472222;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.78;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.629371;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.761364;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.517699;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.927;db_xref=,GeneID:125972|HGNC:HGNC:20407|MIM:611414;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_145046.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,calreticulin_3;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CALR3;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,CALR3;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMH19|CRT2|CT93;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,calreticulin_3;transcript_id=,NM_145046.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CALR3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CALR3:NM_145046:exon8:c.C972T:p.Y324Y;cytoBand=19p13.11;genomicSuperDups=.;esp6500siv2_all=0.6539;esp6500siv2_ea=0.7043;esp6500siv2_all=0.6539;esp6500siv2_ea=0.7043;1000g2015aug_all=0.650559;avsnp147=rs9305079;Kaviar_AF=0.69243;Kaviar_AC=107051;Kaviar_AN=154602;ExAC_ALL=0.6984;ExAC_AFR=0.5479;ExAC_AMR=0.7731;ExAC_EAS=0.6365;ExAC_FIN=0.6176;ExAC_NFE=0.7109;ExAC_OTH=0.7148;ExAC_SAS=0.7541;CLNALLELEID=487993;CLNDN=Familial_hypertrophic_cardiomyopathy_19|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C3151266,OMIM:613875|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.9434;dpsi_zscore=1.487;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.7015;gnomAD_exome_AFR=0.5448;gnomAD_exome_AMR=0.7633;gnomAD_exome_ASJ=0.8167;gnomAD_exome_EAS=0.6337;gnomAD_exome_FIN=0.6147;gnomAD_exome_NFE=0.7065;gnomAD_exome_OTH=0.7240;gnomAD_exome_SAS=0.7535;gnomAD_genome_ALL=0.6492;gnomAD_genome_AFR=0.5520;gnomAD_genome_AMR=0.7315;gnomAD_genome_ASJ=0.8344;gnomAD_genome_EAS=0.6286;gnomAD_genome_FIN=0.6125;gnomAD_genome_NFE=0.7044;gnomAD_genome_OTH=0.7070;Whole_Blood=Whole_Blood::0.331978::-0.103932;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:33:0,16 1/1:32:0,32 1/1:27:0,27 1/1:25:0,25 1/1:24:0,24 1/1:18:0,18 1:21:0,10 1/1:33:0,33 1/1:42:0,42 1/1:33:0,33 1:47:0,18 1:30:0,16 1/1:29:0,29 1/1:22:0,22 1/1:44:0,44 1/1:34:0,34 1/1:33:0,33 1:41:0,19 1:44:0,17 1:25:0,14 1/1:36:0,36 1/1:41:0,41 1:25:0,11 . 1/1:22:0,22 1/1:20:0,20 1:37:0,19 1/1:38:0,38 1/1:38:0,38 1/1:40:0,40 1:44:0,23 1/1:35:0,35 1:36:0,16 1/1:31:0,31 1/1:40:0,40 1:49:0,30 . 1:32:0,17 . . 1/1:46:0,46 1/1:31:0,31 19 16593321 . C T 200.00 . #_unique_end_positions=,49;#_unique_start_positions=,37;AC=1;AN=1;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.02;Coding_region_change=,NM_145046.4:c.858G>A;Coding_region_change_in_longest_transcript=,NM_145046.4:c.858G>A;Forward_read_coverage=,57;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:125972;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:125972;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:20407;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:20407;Homo_sapiens_refseq_GRCh37.p13_Genes=,CALR3;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_145046.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene35699;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna52202;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:611414;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:611414;Non-synonymous=,No;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene35699;QUAL=,200.0;Read_count=,74;Read_coverage=,125;Read_direction_test_probability=,0.9610532750667127;Read_position_test_probability=,0.9765460201132894;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_145046.4;Reverse_read_coverage=,68;SF=21;conservation_score=,0.015;db_xref=,GeneID:125972|HGNC:HGNC:20407|MIM:611414;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_145046.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,calreticulin_3;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CALR3;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,CALR3;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMH19|CRT2|CT93;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,calreticulin_3;transcript_id=,NM_145046.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CALR3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CALR3:NM_145046:exon7:c.G858A:p.L286L;cytoBand=19p13.11;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-4.1754;dpsi_zscore=-2.376;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=3.227e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=6.66e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . 1:116:0,71 . . . . . . . . . . . . . . . . . . . . 19 16593359 192183;rs12459238 C T 200.00 . #_unique_end_positions=,30;#_unique_start_positions=,26;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0545;AF_ESP_clinvar_20171029_hg19=,0.0208;AF_EXAC_clinvar_20171029_hg19=,0.03012;AF_TGP_clinvar_20171029_hg19=,0.0421;ALLELEID_clinvar_20171029_hg19=,190007;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1340;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_659483.2:p.Val274Ile;Amino_acid_change_in_longest_transcript=,NP_659483.2:p.Val274Ile;BaseQRankSum=,-0.2;CAF_dbsnp_common_v150_hg19_refseq=,0.9579|.|0.04213;CLNDISDB_clinvar_20171029_hg19=,MedGen:C3151266|OMIM:613875|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Familial_hypertrophic_cardiomyopathy_19|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000019.9:g.16593359C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,UniProtKB_(protein):Q96L12#VAR_027946;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_145046.4:c.820G>A;Coding_region_change_in_longest_transcript=,NM_145046.4:c.820G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0308;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0070;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,40;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,CALR3:125972;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:125972;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:125972;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:20407;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:20407;Homo_sapiens_refseq_GRCh37.p13_Genes=,CALR3;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_145046.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene35699;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna52202;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:611414;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:611414;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene35699;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,16593359;RS_dbsnp_common_v150_hg19_refseq=,12459238;Read_count=,44;Read_coverage=,92;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.5124511899433288;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_145046.4;Reverse_read_coverage=,52;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0082;SF=37;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.967374|3.4343e-005|0.0325915;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050328000a05150537000101;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.0714286;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.00833333;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.0384615;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.0297619;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0444444;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0222222;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.091954;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.197917;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.0839161;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0666667;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.0;db_xref=,GeneID:125972|HGNC:HGNC:20407|MIM:611414;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_145046.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,calreticulin_3;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CALR3;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,CALR3;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMH19|CRT2|CT93;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,calreticulin_3;transcript_id=,NM_145046.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CALR3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CALR3:NM_145046:exon7:c.G820A:p.V274I;cytoBand=19p13.11;genomicSuperDups=.;esp6500siv2_all=0.0208;esp6500siv2_ea=0.0059;esp6500siv2_all=0.0208;esp6500siv2_ea=0.0059;1000g2015aug_all=0.0421326;avsnp147=rs12459238;Kaviar_AF=0.027781;Kaviar_AC=4295;Kaviar_AN=154602;ExAC_ALL=0.0301;ExAC_AFR=0.0515;ExAC_AMR=0.2145;ExAC_EAS=0.0229;ExAC_FIN=0.0030;ExAC_NFE=0.0048;ExAC_OTH=0.0143;ExAC_SAS=0.0052;CLNALLELEID=190007;CLNDN=Familial_hypertrophic_cardiomyopathy_19|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C3151266,OMIM:613875|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.225;SIFT_pred=T;Polyphen2_HDIV_score=0.009;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.005;Polyphen2_HVAR_pred=B;LRT_score=0.112;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.16;MutationAssessor_pred=N;FATHMM_score=0.77;FATHMM_pred=T;PROVEAN_score=-0.87;PROVEAN_pred=N;VEST3_score=0.019;CADD_raw=0.011;CADD_phred=2.695;DANN_score=0.753;fathmm-MKL_coding_score=0.059;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.092;MetaSVM_pred=T;MetaLR_score=0.002;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=-2.96;phyloP7way_vertebrate=-0.771;phyloP20way_mammalian=-0.713;phastCons7way_vertebrate=0.632;phastCons20way_mammalian=0.018;SiPhy_29way_logOdds=11.743;GDI_full_10282015=.;dpsi_max_tissue=0.8928;dpsi_zscore=1.454;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0345;gnomAD_exome_AFR=0.0506;gnomAD_exome_AMR=0.1902;gnomAD_exome_ASJ=0.0037;gnomAD_exome_EAS=0.0244;gnomAD_exome_FIN=0.0035;gnomAD_exome_NFE=0.0044;gnomAD_exome_OTH=0.0288;gnomAD_exome_SAS=0.0051;gnomAD_genome_ALL=0.0246;gnomAD_genome_AFR=0.0539;gnomAD_genome_AMR=0.1802;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0.0297;gnomAD_genome_FIN=0.0046;gnomAD_genome_NFE=0.0038;gnomAD_genome_OTH=0.0164;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:87:0,41 . . . . 19 16593573 rs10403020 G A 191.81 . #_unique_end_positions=,29;#_unique_start_positions=,26;AC=11;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1868;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1182;AN=11;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.19;CAF_dbsnp_common_v150_hg19_refseq=,0.8554|0.1446;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_145046.4:c.702C>T;Coding_region_change_in_longest_transcript=,NM_145046.4:c.702C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0992;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1581;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,30;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,CALR3:125972;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:125972;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:125972;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:20407;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:20407;Homo_sapiens_refseq_GRCh37.p13_Genes=,CALR3;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_145046.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene35699;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna52202;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:611414;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:611414;Non-synonymous=,No;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene35699;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,16593573;RS_dbsnp_common_v150_hg19_refseq=,10403020;Read_count=,43;Read_coverage=,87;Read_direction_test_probability=,0.9908296293620348;Read_position_test_probability=,0.45249418871831326;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_145046.4;Reverse_read_coverage=,57;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1391;SF=10,11,23,26,30,32,35,36,37,38,39;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.839412|0.160588;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05030000030515053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0375;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0612245;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.677;db_xref=,GeneID:125972|HGNC:HGNC:20407|MIM:611414;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_145046.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,calreticulin_3;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CALR3;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,CALR3;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMH19|CRT2|CT93;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,calreticulin_3;transcript_id=,NM_145046.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CALR3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CALR3:NM_145046:exon6:c.C702T:p.D234D;cytoBand=19p13.11;genomicSuperDups=.;esp6500siv2_all=0.1698;esp6500siv2_ea=0.1692;esp6500siv2_all=0.1698;esp6500siv2_ea=0.1692;1000g2015aug_all=0.144569;avsnp147=rs10403020;Kaviar_AF=0.146156;Kaviar_AC=22596;Kaviar_AN=154602;ExAC_ALL=0.1491;ExAC_AFR=0.1862;ExAC_AMR=0.0880;ExAC_EAS=0.0914;ExAC_FIN=0.1797;ExAC_NFE=0.1648;ExAC_OTH=0.1230;ExAC_SAS=0.1248;CLNALLELEID=488044;CLNDN=Familial_hypertrophic_cardiomyopathy_19|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C3151266,OMIM:613875|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.4608;dpsi_zscore=-1.052;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1407;gnomAD_exome_AFR=0.1797;gnomAD_exome_AMR=0.0947;gnomAD_exome_ASJ=0.0790;gnomAD_exome_EAS=0.0848;gnomAD_exome_FIN=0.1625;gnomAD_exome_NFE=0.1645;gnomAD_exome_OTH=0.1445;gnomAD_exome_SAS=0.1206;gnomAD_genome_ALL=0.1632;gnomAD_genome_AFR=0.1770;gnomAD_genome_AMR=0.1280;gnomAD_genome_ASJ=0.0695;gnomAD_genome_EAS=0.0779;gnomAD_genome_FIN=0.1672;gnomAD_genome_NFE=0.1682;gnomAD_genome_OTH=0.1497;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . . 1:79:0,39 1:94:0,48 . . . . . . . . . . . 1:112:0,48 . . 1:91:0,51 . . . 1:110:0,56 . 1:79:0,45 . . 1:81:0,40 1:91:0,48 1:66:0,27 1:73:0,32 1:98:0,29 . . 19 16601194 rs3810198 C T 184.22 . #_unique_end_positions=,17;#_unique_start_positions=,16;AC=63;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5673;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7493;AN=63;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.29;CAF_dbsnp_common_v150_hg19_refseq=,0.3411|0.6589;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_145046.4:c.381G>A;Coding_region_change_in_longest_transcript=,NM_145046.4:c.381G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6270;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6789;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,43;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,CALR3:125972;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:125972;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:125972;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:20407;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:20407;Homo_sapiens_refseq_GRCh37.p13_Genes=,CALR3;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_145046.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene35699;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna52202;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:611414;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:611414;Non-synonymous=,No;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene35699;QUAL=,127.15540677050812;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,16601194;RS_dbsnp_common_v150_hg19_refseq=,3810198;Read_count=,29;Read_coverage=,67;Read_direction_test_probability=,0.983287776595173;Read_position_test_probability=,0.3811055235531783;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_145046.4;Reverse_read_coverage=,24;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7311;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,24,25,26,27,28,29,30,31,32,33,34,35,37,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.337764|0.662236;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05030008030517053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.5;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.691964;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.6375;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.625;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.721591;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.662791;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.652941;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.494444;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.78;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.629371;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.755682;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.566372;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.013;db_xref=,GeneID:125972|HGNC:HGNC:20407|MIM:611414;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_145046.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,calreticulin_3;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CALR3;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,CALR3;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMH19|CRT2|CT93;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,calreticulin_3;transcript_id=,NM_145046.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CALR3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CALR3:NM_145046:exon3:c.G381A:p.Q127Q;cytoBand=19p13.11;genomicSuperDups=.;esp6500siv2_all=0.6680;esp6500siv2_ea=0.7038;esp6500siv2_all=0.6680;esp6500siv2_ea=0.7038;1000g2015aug_all=0.658946;avsnp147=rs3810198;Kaviar_AF=0.695373;Kaviar_AC=107506;Kaviar_AN=154602;ExAC_ALL=0.7014;ExAC_AFR=0.5905;ExAC_AMR=0.7727;ExAC_EAS=0.6366;ExAC_FIN=0.6179;ExAC_NFE=0.7102;ExAC_OTH=0.7137;ExAC_SAS=0.7530;CLNALLELEID=487995;CLNDN=Familial_hypertrophic_cardiomyopathy_19|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C3151266,OMIM:613875|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.2004;dpsi_zscore=0.724;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.7035;gnomAD_exome_AFR=0.5871;gnomAD_exome_AMR=0.7628;gnomAD_exome_ASJ=0.8214;gnomAD_exome_EAS=0.6336;gnomAD_exome_FIN=0.6149;gnomAD_exome_NFE=0.7052;gnomAD_exome_OTH=0.7236;gnomAD_exome_SAS=0.7527;gnomAD_genome_ALL=0.6600;gnomAD_genome_AFR=0.5927;gnomAD_genome_AMR=0.7315;gnomAD_genome_ASJ=0.8377;gnomAD_genome_EAS=0.6276;gnomAD_genome_FIN=0.6123;gnomAD_genome_NFE=0.7030;gnomAD_genome_OTH=0.7055;Whole_Blood=Whole_Blood::0.326558::-0.101898;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:55:0,21 1/1:51:0,51 1/1:78:0,78 1/1:56:0,56 1/1:40:0,40 1/1:56:0,56 1:44:0,21 1/1:57:0,57 1/1:80:0,80 1/1:58:0,58 1:72:0,36 1:68:0,34 1/1:56:0,56 1/1:65:0,65 1/1:101:0,101 1/1:76:0,76 1/1:59:0,59 1:81:0,45 1:53:0,21 1:55:0,31 1/1:114:0,114 1/1:60:0,60 1:84:0,38 . 1/1:70:0,70 1/1:60:0,60 1:71:0,29 1/1:83:0,83 1/1:86:0,86 1/1:47:0,47 1:63:0,34 1/1:61:0,61 1:69:0,37 1/1:52:0,52 1/1:68:0,68 1:60:0,30 . 1:48:0,31 . . 1/1:67:0,67 1/1:69:0,69 19 35524824 138998;rs55742440 T C 197.11 . #_unique_end_positions=,33;#_unique_start_positions=,30;AC=36;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5378;AF_ESP_clinvar_20171029_hg19=,0.4214;AF_EXAC_clinvar_20171029_hg19=,0.42618;AF_TGP_clinvar_20171029_hg19=,0.3776;ALLELEID_clinvar_20171029_hg19=,142701;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3890;AN=36;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_950238.1:p.Leu210Pro;Amino_acid_change_in_longest_transcript=,NP_950238.1:p.Leu210Pro;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.6224|0.3776;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000019.9:g.35524824T>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001037.4:c.448+181T>C|_NM_001321605.1:c.349+181T>C|_NM_199037.4:c.629T>C;Coding_region_change_in_longest_transcript=,NM_199037.4:c.629T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2411;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3897;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,38;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,SCN1B:6324;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:6324;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:6324;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:10586;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:10586;Homo_sapiens_refseq_GRCh37.p13_Genes=,SCN1B;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_199037.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene36058;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna52663;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant|SO:0001627|intron_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:600235;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:600235;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene36058;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,35524824;RS_dbsnp_common_v150_hg19_refseq=,55742440;Read_count=,51;Read_coverage=,105;Read_direction_test_probability=,0.7442237279682687;Read_position_test_probability=,0.7309979401661059;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_199037.4;Reverse_read_coverage=,67;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2812;SF=0,2,5,7,8,9,11,12,13,14,16,18,19,22,23,24,25,26,27,28,29,31,32,33,34,35,37,38,39;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.543513|0.456487;TPA_dbsnp_common_v150_hg19_refseq=,TPA;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050178080a0517053e100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.0;db_xref=,GeneID:6324|HGNC:HGNC:10586|MIM:600235;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:02581;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_199037.4|HPRD:02581;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,sodium_voltage-gated_channel_beta_subunit_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SCN1B;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SCN1B;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ATFB13|BRGDA5|GEFSP1;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,sodium_voltage-gated_channel_beta_subunit_1|_transcript_variant_b;transcript_id=,NM_199037.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SCN1B;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN1B:NM_199037:exon3:c.T629C:p.L210P;cytoBand=19q13.12;genomicSuperDups=.;esp6500siv2_all=0.4214;esp6500siv2_ea=0.3721;esp6500siv2_all=0.4214;esp6500siv2_ea=0.3721;1000g2015aug_all=0.377596;avsnp147=rs55742440;Kaviar_AF=0.295397;Kaviar_AC=45669;Kaviar_AN=154602;ExAC_ALL=0.4262;ExAC_AFR=0.5748;ExAC_AMR=0.4259;ExAC_EAS=0.3529;ExAC_FIN=0.5115;ExAC_NFE=0.4522;ExAC_OTH=0.4477;ExAC_SAS=0.3121;CLNALLELEID=142701;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=-2.75;FATHMM_pred=D;PROVEAN_score=1.83;PROVEAN_pred=N;VEST3_score=0.02;CADD_raw=-0.608;CADD_phred=0.120;DANN_score=0.596;fathmm-MKL_coding_score=0.000;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.983;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.581;integrated_confidence_value=0;GERP++_RS=-1.91;phyloP7way_vertebrate=-0.912;phyloP20way_mammalian=-0.503;phastCons7way_vertebrate=0.000;phastCons20way_mammalian=0.002;SiPhy_29way_logOdds=8.821;GDI_full_10282015=.;dpsi_max_tissue=-0.0207;dpsi_zscore=-0.109;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3685;gnomAD_exome_AFR=0.5300;gnomAD_exome_AMR=0.3167;gnomAD_exome_ASJ=0.4939;gnomAD_exome_EAS=0.2681;gnomAD_exome_FIN=0.4047;gnomAD_exome_NFE=0.3838;gnomAD_exome_OTH=0.4066;gnomAD_exome_SAS=0.2891;gnomAD_genome_ALL=0.4246;gnomAD_genome_AFR=0.5236;gnomAD_genome_AMR=0.3612;gnomAD_genome_ASJ=0.4801;gnomAD_genome_EAS=0.2727;gnomAD_genome_FIN=0.4043;gnomAD_genome_NFE=0.3918;gnomAD_genome_OTH=0.4064;Whole_Blood=Whole_Blood::0.376359::-0.190429;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:91:0,48 . 1:186:0,101 . . 1:153:0,72 . 1:148:0,72 1:167:0,85 1/1:172:0,172 . 1/1:169:0,169 1:197:0,104 1/1:165:0,165 1/1:288:0,288 . 1:161:0,74 . 1:179:0,88 1:168:0,71 . . 1:247:0,109 1:225:0,124 1:209:0,115 1:145:0,74 1:183:0,86 1:235:0,121 1/1:255:0,255 1/1:216:0,216 . 1:122:0,59 1:176:0,87 1:155:0,91 1:197:0,93 1/1:173:0,173 . 1:163:0,80 1:137:0,63 1:192:0,101 . . 19 35524939 138999;rs67701503 C A 200.00 . #_unique_end_positions=,44;#_unique_start_positions=,41;AC=17;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0885;AF_ESP_clinvar_20171029_hg19=,0.1248;AF_EXAC_clinvar_20171029_hg19=,0.14734;AF_TGP_clinvar_20171029_hg19=,0.1274;ALLELEID_clinvar_20171029_hg19=,142702;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1311;AN=17;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_950238.1:p.Ser248Arg;Amino_acid_change_in_longest_transcript=,NP_950238.1:p.Ser248Arg;BaseQRankSum=,-0.34;CAF_dbsnp_common_v150_hg19_refseq=,0.8726|0.1274;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000019.9:g.35524939C>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001037.4:c.448+296C>A|_NM_001321605.1:c.349+296C>A|_NM_199037.4:c.744C>A;Coding_region_change_in_longest_transcript=,NM_199037.4:c.744C>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1825;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1461;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,75;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,SCN1B:6324;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:6324;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:6324;Genotype=,A/C;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:10586;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:10586;Homo_sapiens_refseq_GRCh37.p13_Genes=,SCN1B;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_199037.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene36058;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna52663;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant|SO:0001627|intron_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:600235;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:600235;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene36058;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,35524939;RS_dbsnp_common_v150_hg19_refseq=,67701503;Read_count=,59;Read_coverage=,136;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9717851757165519;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_199037.4;Reverse_read_coverage=,61;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1012;SF=2,8,9,12,13,16,18,19,23,24,29,31,32,34,37,38,39;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.86929|0.13071;TPA_dbsnp_common_v150_hg19_refseq=,TPA;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050178080a0517053e100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.081;db_xref=,GeneID:6324|HGNC:HGNC:10586|MIM:600235;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:02581;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_199037.4|HPRD:02581;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,sodium_voltage-gated_channel_beta_subunit_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SCN1B;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SCN1B;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ATFB13|BRGDA5|GEFSP1;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,sodium_voltage-gated_channel_beta_subunit_1|_transcript_variant_b;transcript_id=,NM_199037.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SCN1B;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN1B:NM_199037:exon3:c.C744A:p.S248R;cytoBand=19q13.12;genomicSuperDups=.;esp6500siv2_all=0.1248;esp6500siv2_ea=0.1455;esp6500siv2_all=0.1248;esp6500siv2_ea=0.1455;1000g2015aug_all=0.127396;avsnp147=rs67701503;Kaviar_AF=0.0493008;Kaviar_AC=7622;Kaviar_AN=154602;ExAC_ALL=0.1473;ExAC_AFR=0.1034;ExAC_AMR=0.1348;ExAC_EAS=0.2047;ExAC_FIN=0.15;ExAC_NFE=0.1818;ExAC_OTH=0.1771;ExAC_SAS=0.1150;CLNALLELEID=142702;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=0.002;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.005;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=-2.54;FATHMM_pred=D;PROVEAN_score=-0.04;PROVEAN_pred=N;VEST3_score=0.031;CADD_raw=3.869;CADD_phred=23.5;DANN_score=0.991;fathmm-MKL_coding_score=0.217;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.994;MetaSVM_pred=T;MetaLR_score=0.003;MetaLR_pred=T;integrated_fitCons_score=0.517;integrated_confidence_value=0;GERP++_RS=1.88;phyloP7way_vertebrate=0.493;phyloP20way_mammalian=0.032;phastCons7way_vertebrate=0.352;phastCons20way_mammalian=0.698;SiPhy_29way_logOdds=7.859;GDI_full_10282015=.;dpsi_max_tissue=0.0199;dpsi_zscore=0.135;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1457;gnomAD_exome_AFR=0.0887;gnomAD_exome_AMR=0.0879;gnomAD_exome_ASJ=0.2564;gnomAD_exome_EAS=0.2125;gnomAD_exome_FIN=0.1833;gnomAD_exome_NFE=0.1515;gnomAD_exome_OTH=0.1589;gnomAD_exome_SAS=0.1141;gnomAD_genome_ALL=0.1505;gnomAD_genome_AFR=0.0912;gnomAD_genome_AMR=0.1053;gnomAD_genome_ASJ=0.2715;gnomAD_genome_EAS=0.2102;gnomAD_genome_FIN=0.1864;gnomAD_genome_NFE=0.1693;gnomAD_genome_OTH=0.1670;Whole_Blood=Whole_Blood::0.127371::-0.22583;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . 1:128:0,58 . . . . . 1:115:0,54 1:116:0,51 . . 1:141:0,64 1:136:0,64 . . 1:136:0,56 . 1:99:0,49 1:111:0,64 . . . 1:129:0,77 1:153:0,80 . . . . 1:131:0,58 . 1:76:0,38 1:81:0,40 . 1:133:0,61 . . 1:82:0,40 1:76:0,37 1:109:0,62 . . 19 35524944 36756;rs67486287 G C 200.00 . #_unique_end_positions=,44;#_unique_start_positions=,41;AC=17;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0582;AF_ESP_clinvar_20171029_hg19=,0.1164;AF_EXAC_clinvar_20171029_hg19=,0.14273;AF_TGP_clinvar_20171029_hg19=,0.1192;ALLELEID_clinvar_20171029_hg19=,45417;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1297;AN=17;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_950238.1:p.Arg250Thr;Amino_acid_change_in_longest_transcript=,NP_950238.1:p.Arg250Thr;BaseQRankSum=,0.28;CAF_dbsnp_common_v150_hg19_refseq=,0.8808|.|0.1192;CLNDISDB_clinvar_20171029_hg19=,MedGen:C0003811|OMIM:115000|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Cardiac_arrhythmia|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000019.9:g.35524944G>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001037.4:c.448+301G>C|_NM_001321605.1:c.349+301G>C|_NM_199037.4:c.749G>C;Coding_region_change_in_longest_transcript=,NM_199037.4:c.749G>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1825;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1461;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,71;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,SCN1B:6324;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:6324;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:6324;Genotype=,C/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:10586;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:10586;Homo_sapiens_refseq_GRCh37.p13_Genes=,SCN1B;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_199037.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene36058;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna52663;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant|SO:0001627|intron_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:600235;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:600235;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene36058;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,35524944;RS_dbsnp_common_v150_hg19_refseq=,67486287;Read_count=,60;Read_coverage=,133;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.8158022409608723;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_199037.4;Reverse_read_coverage=,62;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1012;SF=2,8,9,12,13,16,18,19,23,24,29,31,32,34,37,38,39;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.881791|0.000103029|0.118106;TPA_dbsnp_common_v150_hg19_refseq=,TPA;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050178080a0515053e100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.007;db_xref=,GeneID:6324|HGNC:HGNC:10586|MIM:600235;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:02581;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_199037.4|HPRD:02581;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,sodium_voltage-gated_channel_beta_subunit_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SCN1B;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SCN1B;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ATFB13|BRGDA5|GEFSP1;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,sodium_voltage-gated_channel_beta_subunit_1|_transcript_variant_b;transcript_id=,NM_199037.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SCN1B;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN1B:NM_199037:exon3:c.G749C:p.R250T;cytoBand=19q13.12;genomicSuperDups=.;esp6500siv2_all=0.1164;esp6500siv2_ea=0.1454;esp6500siv2_all=0.1164;esp6500siv2_ea=0.1454;1000g2015aug_all=0.119209;avsnp147=rs67486287;Kaviar_AF=0.0480912;Kaviar_AC=7435;Kaviar_AN=154602;ExAC_ALL=0.1427;ExAC_AFR=0.0759;ExAC_AMR=0.135;ExAC_EAS=0.2053;ExAC_FIN=0.15;ExAC_NFE=0.1828;ExAC_OTH=0.1789;ExAC_SAS=0.1095;CLNALLELEID=45417;CLNDN=Cardiac_arrhythmia|not_specified;CLNDISDB=MedGen:C0003811,OMIM:115000|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=0.218;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.058;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=-2.6;FATHMM_pred=D;PROVEAN_score=0.01;PROVEAN_pred=N;VEST3_score=0.044;CADD_raw=1.238;CADD_phred=11.94;DANN_score=0.931;fathmm-MKL_coding_score=0.096;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.015;MetaSVM_pred=T;MetaLR_score=0.003;MetaLR_pred=T;integrated_fitCons_score=0.517;integrated_confidence_value=0;GERP++_RS=1.84;phyloP7way_vertebrate=-0.155;phyloP20way_mammalian=0.147;phastCons7way_vertebrate=0.057;phastCons20way_mammalian=0.001;SiPhy_29way_logOdds=5.129;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=HGMD::Epilepsy,_idiopathic#21703448;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM115448#"Epilepsy_idiopathic";gnomAD_exome_ALL=0.1433;gnomAD_exome_AFR=0.0619;gnomAD_exome_AMR=0.0866;gnomAD_exome_ASJ=0.2561;gnomAD_exome_EAS=0.2125;gnomAD_exome_FIN=0.1833;gnomAD_exome_NFE=0.1515;gnomAD_exome_OTH=0.1590;gnomAD_exome_SAS=0.1091;gnomAD_genome_ALL=0.1431;gnomAD_genome_AFR=0.0662;gnomAD_genome_AMR=0.1038;gnomAD_genome_ASJ=0.2715;gnomAD_genome_EAS=0.2106;gnomAD_genome_FIN=0.1856;gnomAD_genome_NFE=0.1690;gnomAD_genome_OTH=0.1640;Whole_Blood=Whole_Blood::0.126016::-0.227413;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . 1:126:0,58 . . . . . 1:109:0,51 1:116:0,47 . . 1:130:0,58 1:136:0,63 . . 1:128:0,55 . 1:92:0,43 1:105:0,62 . . . 1:119:0,71 1:145:0,77 . . . . 1:124:0,52 . 1:71:0,36 1:84:0,41 . 1:124:0,54 . . 1:77:0,40 1:74:0,34 1:99:0,58 . . 19 35530073 130210;rs16969930 T C 200.00 . #_unique_end_positions=,74;#_unique_start_positions=,67;AC=2;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0008;AF_ESP_clinvar_20171029_hg19=,0.0237;AF_EXAC_clinvar_20171029_hg19=,0.02399;AF_TGP_clinvar_20171029_hg19=,0.0156;ALLELEID_clinvar_20171029_hg19=,135657;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0130;AN=2;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;CAF_dbsnp_common_v150_hg19_refseq=,0.9844|0.01558;CLNDISDB_clinvar_20171029_hg19=,EFO:EFO_0005137|MedGen:C2748542|MedGen:C1142166|Orphanet:ORPHA130|SNOMED_CT:418818005|MedGen:C2748541|OMIM:612838|MedGen:C3502809|MedGen:CN169374|MedGen:CN230736;CLNDN_clinvar_20171029_hg19=,Cardiac_conduction_defect|_nonspecific|Brugada_syndrome|Brugada_syndrome_5|Generalized_epilepsy_with_febrile_seizures_plus|not_specified|Cardiovascular_phenotype;CLNHGVS_clinvar_20171029_hg19=,NC_000019.9:g.35530073T>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:63448;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001037.4:c.501T>C|_NM_001321605.1:c.402T>C|_NM_002151.2:c.-1582T>C|_NM_182983.2:c.-2162T>C|_NM_199037.4:c.*5071T>C;Coding_region_change_in_longest_transcript=,NM_001321605.1:c.402T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0318;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,90;GENEINFO_dbsnp_common_v150_hg19_refseq=,SCN1B:6324|HPN:3249;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:6324;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:6324;Genotype=,C/C;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:10586;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:10586;Homo_sapiens_refseq_GRCh37.p13_Genes=,SCN1B;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001037.4|NM_001321605.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene36058;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna52662|rna52664;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:600235;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:600235;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene36058;QUAL=,200.0;R5_dbsnp_common_v150_hg19_refseq=,R5;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,35530073;RS_dbsnp_common_v150_hg19_refseq=,16969930;Read_count=,139;Read_coverage=,139;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001037.4|NM_001321605.1;Reverse_read_coverage=,49;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0368;SF=21;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.984305|0.0156948;TPA_dbsnp_common_v150_hg19_refseq=,TPA;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050178020305140536100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.999;db_xref=,GeneID:6324|HGNC:HGNC:10586|MIM:600235;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:02581;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001037.4|HPRD:02581|Genbank:NM_001321605.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,sodium_voltage-gated_channel_beta_subunit_1;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SCN1B;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,SCN1B;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ATFB13|BRGDA5|GEFSP1;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,sodium_voltage-gated_channel_beta_subunit_1|_transcript_variant_a|sodium_voltage-gated_channel_beta_subunit_1|_transcript_variant_c;transcript_id=,NM_001037.4|NM_001321605.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SCN1B;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SCN1B:NM_001037:exon4:c.T501C:p.I167I;cytoBand=19q13.12;genomicSuperDups=.;esp6500siv2_all=0.0237;esp6500siv2_ea=0.0321;esp6500siv2_all=0.0237;esp6500siv2_ea=0.0321;1000g2015aug_all=0.0155751;avsnp147=rs16969930;Kaviar_AF=0.0241459;Kaviar_AC=3733;Kaviar_AN=154602;ExAC_ALL=0.0240;ExAC_AFR=0.0070;ExAC_AMR=0.0093;ExAC_EAS=0;ExAC_FIN=0.0125;ExAC_NFE=0.0311;ExAC_OTH=0.0275;ExAC_SAS=0.0332;CLNALLELEID=135657;CLNDN=Cardiac_conduction_defect,_nonspecific|Brugada_syndrome|Brugada_syndrome_5|Generalized_epilepsy_with_febrile_seizures_plus|not_specified|Cardiovascular_phenotype;CLNDISDB=EFO:EFO_0005137,MedGen:C2748542|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C2748541,OMIM:612838|MedGen:C3502809,Orphanet:ORPHA36387|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.2737;dpsi_zscore=1.672;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0232;gnomAD_exome_AFR=0.0063;gnomAD_exome_AMR=0.0095;gnomAD_exome_ASJ=0.0323;gnomAD_exome_EAS=5.798e-05;gnomAD_exome_FIN=0.0131;gnomAD_exome_NFE=0.0315;gnomAD_exome_OTH=0.0191;gnomAD_exome_SAS=0.0342;gnomAD_genome_ALL=0.0191;gnomAD_genome_AFR=0.0073;gnomAD_genome_AMR=0.0119;gnomAD_genome_ASJ=0.0232;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0155;gnomAD_genome_NFE=0.0290;gnomAD_genome_OTH=0.0204;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . 1/1:128:0,128 . . . . . . . . . . . . . . . . . . . . 19 46273830 . G A 200.00 . #_unique_end_positions=,63;#_unique_start_positions=,64;AC=1;AN=1;Amino_acid_change=,NP_001275694.1:p.Pro512Leu|_NP_001075031.1:p.Pro596Leu;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-1.1;Coding_region_change=,NM_001081560.2:c.1791C>T|_NM_001081562.2:c.1787C>T|_NM_001081563.2:c.1836C>T|_NM_001288764.1:c.1884C>T|_NM_001288765.1:c.1535C>T|_NM_001288766.1:c.*61C>T|_NM_004409.4:c.1806C>T|_NM_175875.4:c.-1728C>T;Coding_region_change_in_longest_transcript=,NM_001081563.2:c.1836C>T;Forward_read_coverage=,141;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:1760;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:1760;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:2933;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:2933;Homo_sapiens_refseq_GRCh37.p13_Genes=,DMPK;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001288765.1|NM_001081563.2|NM_001288766.1|NM_001081562.2|NM_004409.4|NM_001081560.2|NM_001288764.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene36501;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna53587|rna53586|rna53581|rna53582|rna53584|rna53583|rna53585;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:605377;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:605377;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene36501;QUAL=,200.0;Read_count=,138;Read_coverage=,262;Read_direction_test_probability=,0.9933091857919064;Read_position_test_probability=,0.9762035235419184;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001288765.1|NM_001081563.2|NM_001288766.1|NM_001081562.2|NM_004409.4|NM_001081560.2|NM_001288764.1;Reverse_read_coverage=,121;SF=27;conservation_score=,0.055;db_xref=,GeneID:1760|HGNC:HGNC:2933|MIM:605377;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001288765.1|Genbank:NM_001081563.2|Genbank:NM_001288766.1|Genbank:NM_001081562.2|Genbank:NM_004409.4|Genbank:NM_001081560.2|Genbank:NM_001288764.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,dystrophia_myotonica_protein_kinase;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,DMPK;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,DMPK;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,DM|DM1|DM1PK|DMK|MDPK|MT-PK;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,dystrophia_myotonica_protein_kinase|_transcript_variant_6|dystrophia_myotonica_protein_kinase|_transcript_variant_1|dystrophia_myotonica_protein_kinase|_transcript_variant_7|dystrophia_myotonica_protein_kinase|_transcript_variant_4|dystrophia_myotonica_protein_kinase|_transcript_variant_2|dystrophia_myotonica_protein_kinase|_transcript_variant_3|dystrophia_myotonica_protein_kinase|_transcript_variant_5;transcript_id=,NM_001288765.1|NM_001081563.2|NM_001288766.1|NM_001081562.2|NM_004409.4|NM_001081560.2|NM_001288764.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DMPK;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DMPK:NM_001288765:exon13:c.C1535T:p.P512L,DMPK:NM_001081562:exon15:c.C1787T:p.P596L;cytoBand=19q13.32;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=0.982;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.36;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=N;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=-0.16;FATHMM_pred=T;PROVEAN_score=-0.99;PROVEAN_pred=N;VEST3_score=.;CADD_raw=1.244;CADD_phred=11.98;DANN_score=0.887;fathmm-MKL_coding_score=0.150;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.913;MetaSVM_pred=T;MetaLR_score=0.167;MetaLR_pred=T;integrated_fitCons_score=0.442;integrated_confidence_value=0;GERP++_RS=1.91;phyloP7way_vertebrate=-0.045;phyloP20way_mammalian=0.953;phastCons7way_vertebrate=0.986;phastCons20way_mammalian=0.244;SiPhy_29way_logOdds=8.510;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:229:0,118 . . . . . . . . . . . . . . 19 46273830 . G A 200.00 . #_unique_end_positions=,63;#_unique_start_positions=,64;AC=1;AN=1;Amino_acid_change=,NP_001275694.1:p.Pro512Leu|_NP_001075031.1:p.Pro596Leu;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-1.1;Coding_region_change=,NM_001081560.2:c.1791C>T|_NM_001081562.2:c.1787C>T|_NM_001081563.2:c.1836C>T|_NM_001288764.1:c.1884C>T|_NM_001288765.1:c.1535C>T|_NM_001288766.1:c.*61C>T|_NM_004409.4:c.1806C>T|_NM_175875.4:c.-1728C>T;Coding_region_change_in_longest_transcript=,NM_001081563.2:c.1836C>T;Forward_read_coverage=,141;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:1760;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:1760;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:2933;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:2933;Homo_sapiens_refseq_GRCh37.p13_Genes=,DMPK;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001288765.1|NM_001081563.2|NM_001288766.1|NM_001081562.2|NM_004409.4|NM_001081560.2|NM_001288764.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene36501;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna53587|rna53586|rna53581|rna53582|rna53584|rna53583|rna53585;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:605377;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:605377;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene36501;QUAL=,200.0;Read_count=,138;Read_coverage=,262;Read_direction_test_probability=,0.9933091857919064;Read_position_test_probability=,0.9762035235419184;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001288765.1|NM_001081563.2|NM_001288766.1|NM_001081562.2|NM_004409.4|NM_001081560.2|NM_001288764.1;Reverse_read_coverage=,121;SF=27;conservation_score=,0.055;db_xref=,GeneID:1760|HGNC:HGNC:2933|MIM:605377;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001288765.1|Genbank:NM_001081563.2|Genbank:NM_001288766.1|Genbank:NM_001081562.2|Genbank:NM_004409.4|Genbank:NM_001081560.2|Genbank:NM_001288764.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,dystrophia_myotonica_protein_kinase;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,DMPK;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,DMPK;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,DM|DM1|DM1PK|DMK|MDPK|MT-PK;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,dystrophia_myotonica_protein_kinase|_transcript_variant_6|dystrophia_myotonica_protein_kinase|_transcript_variant_1|dystrophia_myotonica_protein_kinase|_transcript_variant_7|dystrophia_myotonica_protein_kinase|_transcript_variant_4|dystrophia_myotonica_protein_kinase|_transcript_variant_2|dystrophia_myotonica_protein_kinase|_transcript_variant_3|dystrophia_myotonica_protein_kinase|_transcript_variant_5;transcript_id=,NM_001288765.1|NM_001081563.2|NM_001288766.1|NM_001081562.2|NM_004409.4|NM_001081560.2|NM_001288764.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DMPK;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DMPK:NM_001288765:exon13:c.C1535T:p.P512L,DMPK:NM_001081562:exon15:c.C1787T:p.P596L;cytoBand=19q13.32;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=0.982;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.36;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=N;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=-0.16;FATHMM_pred=T;PROVEAN_score=-0.99;PROVEAN_pred=N;VEST3_score=.;CADD_raw=1.244;CADD_phred=11.98;DANN_score=0.887;fathmm-MKL_coding_score=0.150;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.913;MetaSVM_pred=T;MetaLR_score=0.167;MetaLR_pred=T;integrated_fitCons_score=0.442;integrated_confidence_value=0;GERP++_RS=1.91;phyloP7way_vertebrate=-0.045;phyloP20way_mammalian=0.953;phastCons7way_vertebrate=0.986;phastCons20way_mammalian=0.244;SiPhy_29way_logOdds=8.510;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:229:0,118 . . . . . . . . . . . . . . 19 46273830 . G A 200.00 . #_unique_end_positions=,63;#_unique_start_positions=,64;AC=1;AN=1;Amino_acid_change=,NP_001275694.1:p.Pro512Leu|_NP_001075031.1:p.Pro596Leu;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-1.1;Coding_region_change=,NM_001081560.2:c.1791C>T|_NM_001081562.2:c.1787C>T|_NM_001081563.2:c.1836C>T|_NM_001288764.1:c.1884C>T|_NM_001288765.1:c.1535C>T|_NM_001288766.1:c.*61C>T|_NM_004409.4:c.1806C>T|_NM_175875.4:c.-1728C>T;Coding_region_change_in_longest_transcript=,NM_001081563.2:c.1836C>T;Forward_read_coverage=,141;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:1760;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:1760;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:2933;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:2933;Homo_sapiens_refseq_GRCh37.p13_Genes=,DMPK;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001288765.1|NM_001081563.2|NM_001288766.1|NM_001081562.2|NM_004409.4|NM_001081560.2|NM_001288764.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene36501;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna53587|rna53586|rna53581|rna53582|rna53584|rna53583|rna53585;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:605377;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:605377;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene36501;QUAL=,200.0;Read_count=,138;Read_coverage=,262;Read_direction_test_probability=,0.9933091857919064;Read_position_test_probability=,0.9762035235419184;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001288765.1|NM_001081563.2|NM_001288766.1|NM_001081562.2|NM_004409.4|NM_001081560.2|NM_001288764.1;Reverse_read_coverage=,121;SF=27;conservation_score=,0.055;db_xref=,GeneID:1760|HGNC:HGNC:2933|MIM:605377;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001288765.1|Genbank:NM_001081563.2|Genbank:NM_001288766.1|Genbank:NM_001081562.2|Genbank:NM_004409.4|Genbank:NM_001081560.2|Genbank:NM_001288764.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,dystrophia_myotonica_protein_kinase;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,DMPK;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,DMPK;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,DM|DM1|DM1PK|DMK|MDPK|MT-PK;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,dystrophia_myotonica_protein_kinase|_transcript_variant_6|dystrophia_myotonica_protein_kinase|_transcript_variant_1|dystrophia_myotonica_protein_kinase|_transcript_variant_7|dystrophia_myotonica_protein_kinase|_transcript_variant_4|dystrophia_myotonica_protein_kinase|_transcript_variant_2|dystrophia_myotonica_protein_kinase|_transcript_variant_3|dystrophia_myotonica_protein_kinase|_transcript_variant_5;transcript_id=,NM_001288765.1|NM_001081563.2|NM_001288766.1|NM_001081562.2|NM_004409.4|NM_001081560.2|NM_001288764.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DMPK;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DMPK:NM_001288765:exon13:c.C1535T:p.P512L,DMPK:NM_001081562:exon15:c.C1787T:p.P596L;cytoBand=19q13.32;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=0.982;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.36;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=N;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=-0.16;FATHMM_pred=T;PROVEAN_score=-0.99;PROVEAN_pred=N;VEST3_score=.;CADD_raw=1.244;CADD_phred=11.98;DANN_score=0.887;fathmm-MKL_coding_score=0.150;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.913;MetaSVM_pred=T;MetaLR_score=0.167;MetaLR_pred=T;integrated_fitCons_score=0.442;integrated_confidence_value=0;GERP++_RS=1.91;phyloP7way_vertebrate=-0.045;phyloP20way_mammalian=0.953;phastCons7way_vertebrate=0.986;phastCons20way_mammalian=0.244;SiPhy_29way_logOdds=8.510;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:229:0,118 . . . . . . . . . . . . . . 19 46274624 rs146680240 G A 200.00 . #_unique_end_positions=,41;#_unique_start_positions=,32;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0072;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_004400.4:p.Thr544Met|_NP_001075032.1:p.Thr554Met|_NP_001275693.1:p.Thr570Met|_NP_001275694.1:p.Thr455Met|_NP_001075031.1:p.Thr539Met|_NP_001075029.1:p.Thr539Met;Amino_acid_change_in_longest_transcript=,NP_001075032.1:p.Thr554Met;BaseQRankSum=,-0.24;CAF_dbsnp_common_v150_hg19_refseq=,0.9944|0.005591;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001081560.2:c.1616C>T|_NM_001081562.2:c.1616C>T|_NM_001081563.2:c.1661C>T|_NM_001288764.1:c.1709C>T|_NM_001288765.1:c.1364C>T|_NM_001288766.1:c.1585+202C>T|_NM_004409.4:c.1631C>T|_NM_175875.4:c.-2522C>T;Coding_region_change_in_longest_transcript=,NM_001081563.2:c.1661C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0169;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,60;GENEINFO_dbsnp_common_v150_hg19_refseq=,DMPK:1760;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:1760;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:1760;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:2933;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:2933;Homo_sapiens_refseq_GRCh37.p13_Genes=,DMPK;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001288765.1|NM_001081563.2|NM_001081562.2|NM_004409.4|NM_001081560.2|NM_001288764.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene36501;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna53587|rna53586|rna53582|rna53584|rna53583|rna53585;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:605377;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:605377;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene36501;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,46274624;RS_dbsnp_common_v150_hg19_refseq=,146680240;Read_count=,60;Read_coverage=,102;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9821586688341246;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001288765.1|NM_001081563.2|NM_001081562.2|NM_004409.4|NM_001081560.2|NM_001288764.1;Reverse_read_coverage=,42;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0061;SF=0;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.990624|0.00937564;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050000080a05040436000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:1760|HGNC:HGNC:2933|MIM:605377;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001288765.1|Genbank:NM_001081563.2|Genbank:NM_001081562.2|Genbank:NM_004409.4|Genbank:NM_001081560.2|Genbank:NM_001288764.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,dystrophia_myotonica_protein_kinase;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,DMPK;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,DMPK;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,DM|DM1|DM1PK|DMK|MDPK|MT-PK;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,dystrophia_myotonica_protein_kinase|_transcript_variant_6|dystrophia_myotonica_protein_kinase|_transcript_variant_1|dystrophia_myotonica_protein_kinase|_transcript_variant_4|dystrophia_myotonica_protein_kinase|_transcript_variant_2|dystrophia_myotonica_protein_kinase|_transcript_variant_3|dystrophia_myotonica_protein_kinase|_transcript_variant_5;transcript_id=,NM_001288765.1|NM_001081563.2|NM_001081562.2|NM_004409.4|NM_001081560.2|NM_001288764.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DMPK;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DMPK:NM_001288765:exon11:c.C1364T:p.T455M,DMPK:NM_001081563:exon12:c.C1661T:p.T554M,DMPK:NM_001081560:exon13:c.C1616T:p.T539M,DMPK:NM_001081562:exon13:c.C1616T:p.T539M,DMPK:NM_004409:exon13:c.C1631T:p.T544M,DMPK:NM_001288764:exon14:c.C1709T:p.T570M;cytoBand=19q13.32;genomicSuperDups=.;esp6500siv2_all=0.0114;esp6500siv2_ea=0.0149;esp6500siv2_all=0.0114;esp6500siv2_ea=0.0149;1000g2015aug_all=0.00559105;avsnp147=rs146680240;Kaviar_AF=0.0115134;Kaviar_AC=1780;Kaviar_AN=154602;ExAC_ALL=0.0118;ExAC_AFR=0.0033;ExAC_AMR=0.0021;ExAC_EAS=0;ExAC_FIN=0.0289;ExAC_NFE=0.0161;ExAC_OTH=0.0108;ExAC_SAS=0.0063;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.141;SIFT_pred=T;Polyphen2_HDIV_score=0.909;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.249;Polyphen2_HVAR_pred=B;LRT_score=0.055;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=0.345;MutationAssessor_pred=N;FATHMM_score=-0.37;FATHMM_pred=T;PROVEAN_score=-0.93;PROVEAN_pred=N;VEST3_score=0.068;CADD_raw=3.047;CADD_phred=22.4;DANN_score=0.991;fathmm-MKL_coding_score=0.743;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.978;MetaSVM_pred=T;MetaLR_score=0.106;MetaLR_pred=T;integrated_fitCons_score=0.726;integrated_confidence_value=0;GERP++_RS=3.2;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.066;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=8.057;GDI_full_10282015=.;dpsi_max_tissue=4.2945;dpsi_zscore=2.478;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0122;gnomAD_exome_AFR=0.0029;gnomAD_exome_AMR=0.0034;gnomAD_exome_ASJ=0.0027;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0295;gnomAD_exome_NFE=0.0168;gnomAD_exome_OTH=0.0096;gnomAD_exome_SAS=0.0059;gnomAD_genome_ALL=0.0130;gnomAD_genome_AFR=0.0030;gnomAD_genome_AMR=0.0036;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0289;gnomAD_genome_NFE=0.0170;gnomAD_genome_OTH=0.0184;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:88:0,52 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 19 46275976 128903;rs527221 G C 156.84 . #_unique_end_positions=,17;#_unique_start_positions=,16;AC=9;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0530;AF_ESP_clinvar_20171029_hg19=,0.0974;AF_EXAC_clinvar_20171029_hg19=,0.14694;AF_TGP_clinvar_20171029_hg19=,0.1452;ALLELEID_clinvar_20171029_hg19=,134350;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1902;AN=9;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001075029.1:p.Leu418Val|_NP_001075031.1:p.Leu418Val|_NP_001275694.1:p.Leu334Val|_NP_001275695.1:p.Leu418Val|_NP_004400.4:p.Leu423Val|_NP_001075032.1:p.Leu433Val|_NP_001275693.1:p.Leu449Val;Amino_acid_change_in_longest_transcript=,NP_001075032.1:p.Leu433Val;BaseQRankSum=,-0.09;CAF_dbsnp_common_v150_hg19_refseq=,0.8548|0.1452;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000019.9:g.46275976G>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_single_submitter;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,UniProtKB_(protein):Q09013#VAR_058334;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001081560.2:c.1252C>G|_NM_001081562.2:c.1252C>G|_NM_001081563.2:c.1297C>G|_NM_001288764.1:c.1345C>G|_NM_001288765.1:c.1000C>G|_NM_001288766.1:c.1252C>G|_NM_004409.4:c.1267C>G|_NM_175875.4:c.-3874C>G;Coding_region_change_in_longest_transcript=,NM_001081563.2:c.1297C>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1796;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1113;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,25;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,DMPK:1760;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:1760;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:1760;Genotype=,C/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:2933;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:2933;Homo_sapiens_refseq_GRCh37.p13_Genes=,DMPK;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001288765.1|NM_001081563.2|NM_001288766.1|NM_001081562.2|NM_004409.4|NM_001081560.2|NM_001288764.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene36501;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna53587|rna53586|rna53581|rna53582|rna53584|rna53583|rna53585;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:605377;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:605377;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene36501;QUAL=,146.12167089368796;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,46275976;RS_dbsnp_common_v150_hg19_refseq=,527221;Read_count=,24;Read_coverage=,61;Read_direction_test_probability=,0.7729150264641805;Read_position_test_probability=,0.7401524194296312;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001288765.1|NM_001081563.2|NM_001288766.1|NM_001081562.2|NM_004409.4|NM_001081560.2|NM_001288764.1;Reverse_read_coverage=,36;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2372;SF=0,4,6,22,29,31,34,39,40;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.901882|0.098118;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050168000a0515053f100100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0916667;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.155556;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.197674;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0677966;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:1760|HGNC:HGNC:2933|MIM:605377;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001288765.1|Genbank:NM_001081563.2|Genbank:NM_001288766.1|Genbank:NM_001081562.2|Genbank:NM_004409.4|Genbank:NM_001081560.2|Genbank:NM_001288764.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,dystrophia_myotonica_protein_kinase;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,DMPK;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,DMPK;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,DM|DM1|DM1PK|DMK|MDPK|MT-PK;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,dystrophia_myotonica_protein_kinase|_transcript_variant_6|dystrophia_myotonica_protein_kinase|_transcript_variant_1|dystrophia_myotonica_protein_kinase|_transcript_variant_7|dystrophia_myotonica_protein_kinase|_transcript_variant_4|dystrophia_myotonica_protein_kinase|_transcript_variant_2|dystrophia_myotonica_protein_kinase|_transcript_variant_3|dystrophia_myotonica_protein_kinase|_transcript_variant_5;transcript_id=,NM_001288765.1|NM_001081563.2|NM_001288766.1|NM_001081562.2|NM_004409.4|NM_001081560.2|NM_001288764.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DMPK;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DMPK:NM_001288765:exon8:c.C1000G:p.L334V,DMPK:NM_001081563:exon9:c.C1297G:p.L433V,DMPK:NM_001081560:exon10:c.C1252G:p.L418V,DMPK:NM_001081562:exon10:c.C1252G:p.L418V,DMPK:NM_001288766:exon10:c.C1252G:p.L418V,DMPK:NM_004409:exon10:c.C1267G:p.L423V,DMPK:NM_001288764:exon11:c.C1345G:p.L449V;cytoBand=19q13.32;genomicSuperDups=.;esp6500siv2_all=0.0974;esp6500siv2_ea=0.1129;esp6500siv2_all=0.0974;esp6500siv2_ea=0.1129;1000g2015aug_all=0.145168;avsnp147=rs527221;Kaviar_AF=0.137463;Kaviar_AC=21252;Kaviar_AN=154602;ExAC_ALL=0.1469;ExAC_AFR=0.0702;ExAC_AMR=0.2314;ExAC_EAS=0.1873;ExAC_FIN=0.1425;ExAC_NFE=0.1182;ExAC_OTH=0.1301;ExAC_SAS=0.2358;CLNALLELEID=134350;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=0.462;SIFT_pred=T;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.973;Polyphen2_HVAR_pred=D;LRT_score=0.004;LRT_pred=N;MutationTaster_score=0.085;MutationTaster_pred=P;MutationAssessor_score=1.735;MutationAssessor_pred=L;FATHMM_score=-0.18;FATHMM_pred=T;PROVEAN_score=-0.24;PROVEAN_pred=N;VEST3_score=0.144;CADD_raw=2.333;CADD_phred=18.38;DANN_score=0.997;fathmm-MKL_coding_score=0.801;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.001;MetaSVM_pred=T;MetaLR_score=0.002;MetaLR_pred=T;integrated_fitCons_score=0.672;integrated_confidence_value=0;GERP++_RS=3.87;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.953;phastCons7way_vertebrate=0.988;phastCons20way_mammalian=0.987;SiPhy_29way_logOdds=11.524;GDI_full_10282015=.;dpsi_max_tissue=-0.3702;dpsi_zscore=-0.948;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1383;gnomAD_exome_AFR=0.0650;gnomAD_exome_AMR=0.2223;gnomAD_exome_ASJ=0.1224;gnomAD_exome_EAS=0.1825;gnomAD_exome_FIN=0.1361;gnomAD_exome_NFE=0.1127;gnomAD_exome_OTH=0.1460;gnomAD_exome_SAS=0.2222;gnomAD_genome_ALL=0.1163;gnomAD_genome_AFR=0.0648;gnomAD_genome_AMR=0.1862;gnomAD_genome_ASJ=0.1358;gnomAD_genome_EAS=0.1716;gnomAD_genome_FIN=0.1385;gnomAD_genome_NFE=0.1273;gnomAD_genome_OTH=0.1715;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:57:0,23 . . . 1:39:0,17 . 1:39:0,23 . . . . . . . . . . . . . . . 1:115:0,60 . . . . . . 1:59:0,22 . 1:33:0,15 . . 1:64:0,33 . . . . 1:74:0,39 1:75:0,32 . 19 47258842 96105;rs2287717 C T 200.00 . #_unique_end_positions=,61;#_unique_start_positions=,56;AC=11;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1664;AF_ESP_clinvar_20171029_hg19=,0.1419;AF_EXAC_clinvar_20171029_hg19=,0.17007;AF_TGP_clinvar_20171029_hg19=,0.1502;ALLELEID_clinvar_20171029_hg19=,101999;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1311;AN=11;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.72;CAF_dbsnp_common_v150_hg19_refseq=,0.8498|0.1502;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000019.9:g.47258842C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001039885.2:c.135C>T|_NM_024301.4:c.135C>T;Coding_region_change_in_longest_transcript=,NM_001039885.2:c.135C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1319;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1431;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,186;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,FKRP:79147;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:79147;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:79147;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:17997;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:17997;Homo_sapiens_refseq_GRCh37.p13_Genes=,FKRP;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_024301.4|NM_001039885.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene36542;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna53642|rna53641;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:606596;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:606596;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene36542;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,47258842;RS_dbsnp_common_v150_hg19_refseq=,2287717;Read_count=,127;Read_coverage=,296;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9623781005362132;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_024301.4|NM_001039885.2;Reverse_read_coverage=,110;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1677;SF=9,10,11,12,13,18,23,32,34,38,39;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.860155|0.139845;U5_dbsnp_common_v150_hg19_refseq=,U5;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05012840030515053e000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.014;db_xref=,GeneID:79147|HGNC:HGNC:17997|MIM:606596;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:05962;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_024301.4|HPRD:05962|Genbank:NM_001039885.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,fukutin_related_protein;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,FKRP;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,FKRP;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LGMD2I|MDC1C|MDDGA5|MDDGB5|MDDGC5;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,fukutin_related_protein|_transcript_variant_1|fukutin_related_protein|_transcript_variant_2;transcript_id=,NM_024301.4|NM_001039885.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FKRP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FKRP:NM_001039885:exon4:c.C135T:p.A45A,FKRP:NM_024301:exon4:c.C135T:p.A45A;cytoBand=19q13.32;genomicSuperDups=.;esp6500siv2_all=0.1419;esp6500siv2_ea=0.1418;esp6500siv2_all=0.1419;esp6500siv2_ea=0.1418;1000g2015aug_all=0.15016;avsnp147=rs2287717;Kaviar_AF=0.133756;Kaviar_AC=20679;Kaviar_AN=154602;ExAC_ALL=0.1701;ExAC_AFR=0.1775;ExAC_AMR=0.1714;ExAC_EAS=0.1575;ExAC_FIN=0.1612;ExAC_NFE=0.1651;ExAC_OTH=0.1650;ExAC_SAS=0.1909;CLNALLELEID=101999;CLNDN=Limb-girdle_muscular_dystrophy-dystroglycanopathy,_type_C5|Congenital_muscular_dystrophy-dystroglycanopathy_(with_or_without_mental_retardation)_type_B5|Congenital_muscular_dystrophy-dystroglycanopathy_with_brain_and_eye_anomalies_type_A5|not_specified;CLNDISDB=MedGen:C1846672,OMIM:607155,Orphanet:ORPHA34515|MedGen:C1847759,OMIM:606612|MedGen:C3150413,OMIM:613153|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1422;gnomAD_exome_AFR=0.1528;gnomAD_exome_AMR=0.1447;gnomAD_exome_ASJ=0.1274;gnomAD_exome_EAS=0.1299;gnomAD_exome_FIN=0.1160;gnomAD_exome_NFE=0.1404;gnomAD_exome_OTH=0.1327;gnomAD_exome_SAS=0.1712;gnomAD_genome_ALL=0.1381;gnomAD_genome_AFR=0.1495;gnomAD_genome_AMR=0.1340;gnomAD_genome_ASJ=0.1225;gnomAD_genome_EAS=0.1233;gnomAD_genome_FIN=0.1293;gnomAD_genome_NFE=0.1368;gnomAD_genome_OTH=0.1212;Whole_Blood=Whole_Blood::0.138211::0.201013;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . 1:262:0,116 1:291:0,133 1:251:0,118 1:291:0,133 1:208:0,104 . . . . 1:227:0,110 . . . . 1:342:0,162 . . . . . . . . 1:227:0,104 . 1:227:0,95 . . . 1:168:0,93 1:250:0,127 . . 19 47258956 96107;rs149030303 C T 200.00 . #_unique_end_positions=,66;#_unique_start_positions=,63;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0008;AF_ESP_clinvar_20171029_hg19=,0.0095;AF_EXAC_clinvar_20171029_hg19=,0.01610;AF_TGP_clinvar_20171029_hg19=,0.0062;ALLELEID_clinvar_20171029_hg19=,102001;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0014;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.55;CAF_dbsnp_common_v150_hg19_refseq=,0.9938|0.00619;CLNDISDB_clinvar_20171029_hg19=,MedGen:C0265221|Orphanet:ORPHA899|SNOMED_CT:111504002|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Walker-Warburg_congenital_muscular_dystrophy|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000019.9:g.47258956C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001039885.2:c.249C>T|_NM_024301.4:c.249C>T;Coding_region_change_in_longest_transcript=,NM_001039885.2:c.249C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0099;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,174;GENEINFO_dbsnp_common_v150_hg19_refseq=,FKRP:79147;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:79147;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:79147;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:17997;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:17997;Homo_sapiens_refseq_GRCh37.p13_Genes=,FKRP;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_024301.4|NM_001039885.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene36542;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna53642|rna53641;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:606596;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:606596;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene36542;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,47258956;RS_dbsnp_common_v150_hg19_refseq=,149030303;Read_count=,171;Read_coverage=,382;Read_direction_test_probability=,0.9538032159196204;Read_position_test_probability=,0.7692175914684172;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_024301.4|NM_001039885.2;Reverse_read_coverage=,208;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0194;SF=29;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.993063|0.00693729;U5_dbsnp_common_v150_hg19_refseq=,U5;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128400305040036000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.519;db_xref=,GeneID:79147|HGNC:HGNC:17997|MIM:606596;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:05962;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_024301.4|HPRD:05962|Genbank:NM_001039885.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,fukutin_related_protein;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,FKRP;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,FKRP;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LGMD2I|MDC1C|MDDGA5|MDDGB5|MDDGC5;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,fukutin_related_protein|_transcript_variant_1|fukutin_related_protein|_transcript_variant_2;transcript_id=,NM_024301.4|NM_001039885.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FKRP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FKRP:NM_001039885:exon4:c.C249T:p.A83A,FKRP:NM_024301:exon4:c.C249T:p.A83A;cytoBand=19q13.32;genomicSuperDups=.;esp6500siv2_all=0.0095;esp6500siv2_ea=0.0134;esp6500siv2_all=0.0095;esp6500siv2_ea=0.0134;1000g2015aug_all=0.0061901;avsnp147=rs149030303;Kaviar_AF=0.0091719;Kaviar_AC=1418;Kaviar_AN=154602;ExAC_ALL=0.0161;ExAC_AFR=0.0032;ExAC_AMR=0.0014;ExAC_EAS=0;ExAC_FIN=0.0261;ExAC_NFE=0.0214;ExAC_OTH=0.0126;ExAC_SAS=0.0206;CLNALLELEID=102001;CLNDN=Walker-Warburg_congenital_muscular_dystrophy|not_specified;CLNDISDB=MedGen:C0265221,Orphanet:ORPHA899,SNOMED_CT:111504002|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0108;gnomAD_exome_AFR=0.0022;gnomAD_exome_AMR=0.0023;gnomAD_exome_ASJ=0.0125;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0159;gnomAD_exome_NFE=0.0141;gnomAD_exome_OTH=0.0112;gnomAD_exome_SAS=0.0174;gnomAD_genome_ALL=0.0088;gnomAD_genome_AFR=0.0023;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0126;gnomAD_genome_NFE=0.0133;gnomAD_genome_OTH=0.0071;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:355:0,158 . . . . . . . . . . . . 19 47259048 96108;rs143793528 C G 200.00 . #_unique_end_positions=,52;#_unique_start_positions=,56;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0015;AF_ESP_clinvar_20171029_hg19=,0.0077;AF_EXAC_clinvar_20171029_hg19=,0.02240;AF_TGP_clinvar_20171029_hg19=,0.0062;ALLELEID_clinvar_20171029_hg19=,102002;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0043;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_077277.1:p.Ala114Gly|_NP_001034974.1:p.Ala114Gly;Amino_acid_change_in_longest_transcript=,NP_001034974.1:p.Ala114Gly;BaseQRankSum=,0.13;CAF_dbsnp_common_v150_hg19_refseq=,0.9938|0.00619;CLNDISDB_clinvar_20171029_hg19=,MedGen:C0265221|Orphanet:ORPHA899|SNOMED_CT:111504002|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Walker-Warburg_congenital_muscular_dystrophy|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000019.9:g.47259048C>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_conflicting_interpretations;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,ARUP_Laboratories|_Molecular_Genetics_and_Genomics:54234|HGMD:CM013802|UniProtKB_(protein):Q9H9S5#VAR_018280;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001039885.2:c.341C>G|_NM_024301.4:c.341C>G;Coding_region_change_in_longest_transcript=,NM_001039885.2:c.341C>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0169;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,90;GENEINFO_dbsnp_common_v150_hg19_refseq=,FKRP:79147;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:79147;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:79147;Genotype=,C/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:17997;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:17997;Homo_sapiens_refseq_GRCh37.p13_Genes=,FKRP;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_024301.4|NM_001039885.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene36542;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna53642|rna53641;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:606596;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:606596;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene36542;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,47259048;RS_dbsnp_common_v150_hg19_refseq=,143793528;Read_count=,110;Read_coverage=,211;Read_direction_test_probability=,0.9990294530433665;Read_position_test_probability=,0.9907128782574836;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_024301.4|NM_001039885.2;Reverse_read_coverage=,121;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0092;SF=6;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.991861|0.0081393;U5_dbsnp_common_v150_hg19_refseq=,U5;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128400a05040036000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.953;db_xref=,GeneID:79147|HGNC:HGNC:17997|MIM:606596;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:05962;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_024301.4|HPRD:05962|Genbank:NM_001039885.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,fukutin_related_protein;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,FKRP;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,FKRP;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LGMD2I|MDC1C|MDDGA5|MDDGB5|MDDGC5;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,fukutin_related_protein|_transcript_variant_1|fukutin_related_protein|_transcript_variant_2;transcript_id=,NM_024301.4|NM_001039885.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FKRP;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FKRP:NM_001039885:exon4:c.C341G:p.A114G,FKRP:NM_024301:exon4:c.C341G:p.A114G;cytoBand=19q13.32;genomicSuperDups=.;esp6500siv2_all=0.0077;esp6500siv2_ea=0.0106;esp6500siv2_all=0.0077;esp6500siv2_ea=0.0106;1000g2015aug_all=0.0061901;avsnp147=rs143793528;Kaviar_AF=0.0057826;Kaviar_AC=894;Kaviar_AN=154602;ExAC_ALL=0.0224;ExAC_AFR=0.0052;ExAC_AMR=0.0215;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0384;ExAC_OTH=0;ExAC_SAS=0.0157;CLNALLELEID=102002;CLNDN=Walker-Warburg_congenital_muscular_dystrophy|Limb-girdle_muscular_dystrophy-dystroglycanopathy,_type_C5|not_specified;CLNDISDB=MedGen:C0265221,Orphanet:ORPHA899,SNOMED_CT:111504002|MedGen:C1846672,OMIM:607155,Orphanet:ORPHA34515|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.319;SIFT_pred=T;Polyphen2_HDIV_score=0.006;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.005;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_pred=D;MutationTaster_score=0.893;MutationTaster_pred=D;MutationAssessor_score=1.245;MutationAssessor_pred=L;FATHMM_score=-3.64;FATHMM_pred=D;PROVEAN_score=-1.04;PROVEAN_pred=N;VEST3_score=0.077;CADD_raw=0.398;CADD_phred=6.593;DANN_score=0.951;fathmm-MKL_coding_score=0.831;fathmm-MKL_coding_pred=D;MetaSVM_score=0.924;MetaSVM_pred=D;MetaLR_score=0.904;MetaLR_pred=D;integrated_fitCons_score=0.660;integrated_confidence_value=0;GERP++_RS=4.79;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.870;phastCons7way_vertebrate=0.973;phastCons20way_mammalian=0.030;SiPhy_29way_logOdds=12.451;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=HGMD::Muscular_dystrophy,_congenital#11592034;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM013802#"Muscular_dystrophy_congenital";gnomAD_exome_ALL=0.0104;gnomAD_exome_AFR=0.0011;gnomAD_exome_AMR=0.0079;gnomAD_exome_ASJ=0.0177;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0063;gnomAD_exome_NFE=0.0148;gnomAD_exome_OTH=0.0154;gnomAD_exome_SAS=0.0092;gnomAD_genome_ALL=0.0087;gnomAD_genome_AFR=0.0035;gnomAD_genome_AMR=0.0120;gnomAD_genome_ASJ=0.0166;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0100;gnomAD_genome_NFE=0.0117;gnomAD_genome_OTH=0.0133;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:DP:CLCAD2 . . . . . . 1:195:0,100 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 19 47259134 129057;rs148206382 C A 200.00 . #_unique_end_positions=,75;#_unique_start_positions=,67;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0036;AF_EXAC_clinvar_20171029_hg19=,0.01043;AF_TGP_clinvar_20171029_hg19=,0.0026;ALLELEID_clinvar_20171029_hg19=,134503;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0029;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001034974.1:p.Arg143Ser|_NP_077277.1:p.Arg143Ser;Amino_acid_change_in_longest_transcript=,NP_001034974.1:p.Arg143Ser;BaseQRankSum=,-0.47;CAF_dbsnp_common_v150_hg19_refseq=,0.9974|0.002596;CLNDISDB_clinvar_20171029_hg19=,MedGen:C0265221|Orphanet:ORPHA899|SNOMED_CT:111504002|MedGen:CN169374|MedGen:CN517202;CLNDN_clinvar_20171029_hg19=,Walker-Warburg_congenital_muscular_dystrophy|not_specified|not_provided;CLNHGVS_clinvar_20171029_hg19=,NC_000019.9:g.47259134C>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,ARUP_Laboratories|_Molecular_Genetics_and_Genomics:158011|HGMD:CM013803|UniProtKB_(protein):Q9H9S5#VAR_018282;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001039885.2:c.427C>A|_NM_024301.4:c.427C>A;Coding_region_change_in_longest_transcript=,NM_001039885.2:c.427C>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0099;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,90;GENEINFO_dbsnp_common_v150_hg19_refseq=,FKRP:79147;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:79147;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:79147;Genotype=,A/C;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:17997;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:17997;Homo_sapiens_refseq_GRCh37.p13_Genes=,FKRP;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_024301.4|NM_001039885.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene36542;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna53642|rna53641;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:606596;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:606596;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene36542;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,47259134;RS_dbsnp_common_v150_hg19_refseq=,148206382;Read_count=,153;Read_coverage=,281;Read_direction_test_probability=,0.9829330441503982;Read_position_test_probability=,0.9700836398345541;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_024301.4|NM_001039885.2;Reverse_read_coverage=,191;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;SF=1;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.997184|0.00281613;U5_dbsnp_common_v150_hg19_refseq=,U5;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050168400a05040036100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.788;db_xref=,GeneID:79147|HGNC:HGNC:17997|MIM:606596;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:05962;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_024301.4|HPRD:05962|Genbank:NM_001039885.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,fukutin_related_protein;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,FKRP;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,FKRP;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LGMD2I|MDC1C|MDDGA5|MDDGB5|MDDGC5;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,fukutin_related_protein|_transcript_variant_1|fukutin_related_protein|_transcript_variant_2;transcript_id=,NM_024301.4|NM_001039885.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FKRP;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FKRP:NM_001039885:exon4:c.C427A:p.R143S,FKRP:NM_024301:exon4:c.C427A:p.R143S;cytoBand=19q13.32;genomicSuperDups=.;esp6500siv2_all=0.0036;esp6500siv2_ea=0.0049;esp6500siv2_all=0.0036;esp6500siv2_ea=0.0049;1000g2015aug_all=0.00259585;avsnp147=rs148206382;Kaviar_AF=0.0018434;Kaviar_AC=285;Kaviar_AN=154602;ExAC_ALL=0.0104;ExAC_AFR=0;ExAC_AMR=0.0395;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0173;ExAC_OTH=0.0588;ExAC_SAS=0.0077;CLNALLELEID=134503;CLNDN=Walker-Warburg_congenital_muscular_dystrophy|not_specified|not_provided;CLNDISDB=MedGen:C0265221,Orphanet:ORPHA899,SNOMED_CT:111504002|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.576;SIFT_pred=T;Polyphen2_HDIV_score=0.18;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.041;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_pred=D;MutationTaster_score=0.977;MutationTaster_pred=D;MutationAssessor_score=1.5;MutationAssessor_pred=L;FATHMM_score=-4.04;FATHMM_pred=D;PROVEAN_score=-1.75;PROVEAN_pred=N;VEST3_score=0.769;CADD_raw=1.067;CADD_phred=11.04;DANN_score=0.967;fathmm-MKL_coding_score=0.674;fathmm-MKL_coding_pred=D;MetaSVM_score=0.868;MetaSVM_pred=D;MetaLR_score=0.899;MetaLR_pred=D;integrated_fitCons_score=0.660;integrated_confidence_value=0;GERP++_RS=3.6;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.870;phastCons7way_vertebrate=0.940;phastCons20way_mammalian=0.395;SiPhy_29way_logOdds=9.116;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=HGMD::Muscular_dystrophy,_limb_girdle#11741828;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM013803#"Muscular_dystrophy_limb_girdle";gnomAD_exome_ALL=0.0045;gnomAD_exome_AFR=0.0011;gnomAD_exome_AMR=0.0050;gnomAD_exome_ASJ=0.0036;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0068;gnomAD_exome_OTH=0.0056;gnomAD_exome_SAS=0.0037;gnomAD_genome_ALL=0.0029;gnomAD_genome_AFR=0.0010;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0049;gnomAD_genome_OTH=0.0051;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:DP:CLCAD2 . 1:244:0,135 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 19 49669370 . A G 200.00 . #_unique_end_positions=,44;#_unique_start_positions=,44;AC=1;AN=1;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;Coding_region_change=,NM_001195227.1:c.165A>G|_NM_001321281.1:c.165A>G|_NM_001321282.1:c.-1208A>G|_NM_001321283.1:c.-74-2147A>G|_NM_001321285.1:c.-237-2440A>G|_NM_017636.3:c.165A>G;Coding_region_change_in_longest_transcript=,NM_017636.3:c.165A>G;Forward_read_coverage=,101;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:54795;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:54795;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:17993;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:17993;Homo_sapiens_refseq_GRCh37.p13_Genes=,TRPM4;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001321281.1|NM_001321282.1|NM_001195227.1|NM_017636.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene36662;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna53845|rna53844|rna53849|rna53848;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:606936;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:606936;Non-synonymous=,No;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene36662;QUAL=,200.0;Read_count=,83;Read_coverage=,172;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9660057559529286;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001321281.1|NM_001321282.1|NM_001195227.1|NM_017636.3;Reverse_read_coverage=,71;SF=34;conservation_score=,0.896;db_xref=,GeneID:54795|HGNC:HGNC:17993|MIM:606936;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001321281.1|Genbank:NM_001321282.1|Genbank:NM_001195227.1|Genbank:NM_017636.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,transient_receptor_potential_cation_channel_subfamily_M_member_4;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TRPM4;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TRPM4;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,hTRPM4|LTrpC4|PFHB1B|TRPM4B;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,transient_receptor_potential_cation_channel_subfamily_M_member_4|_transcript_variant_3|transient_receptor_potential_cation_channel_subfamily_M_member_4|_transcript_variant_4|transient_receptor_potential_cation_channel_subfamily_M_member_4|_transcript_variant_2|transient_receptor_potential_cation_channel_subfamily_M_member_4|_transcript_variant_1;transcript_id=,NM_001321281.1|NM_001321282.1|NM_001195227.1|NM_017636.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TRPM4:NM_001195227:exon3:c.A165G:p.A55A,TRPM4:NM_017636:exon3:c.A165G:p.A55A;cytoBand=19q13.33;genomicSuperDups=.;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;1000g2015aug_all=.;avsnp147=rs376808923;Kaviar_AF=0.0001358;Kaviar_AC=21;Kaviar_AN=154602;ExAC_ALL=0.0003;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0004;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.5077;dpsi_zscore=1.782;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0001;gnomAD_exome_AFR=7.59e-05;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0002;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0001;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0001;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:154:0,73 . . . . . . . 19 49671207 220959;rs113984787 G A 200.00 . #_unique_end_positions=,35;#_unique_start_positions=,33;AC=3;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0144;AF_ESP_clinvar_20171029_hg19=,0.0176;AF_EXAC_clinvar_20171029_hg19=,0.02114;AF_TGP_clinvar_20171029_hg19=,0.0160;ALLELEID_clinvar_20171029_hg19=,222811;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0115;AN=3;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001182156.1:p.Ala101Thr|_NP_060106.2:p.Ala101Thr;Amino_acid_change_in_longest_transcript=,NP_060106.2:p.Ala101Thr;BaseQRankSum=,-0.01;CAF_dbsnp_common_v150_hg19_refseq=,0.984|0.01597;CLNDISDB_clinvar_20171029_hg19=,Gene:8184|MedGen:C1970298|OMIM:604559|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Progressive_familial_heart_block_type_1B|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000019.9:g.49671207G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001195227.1:c.301G>A|_NM_001321281.1:c.268-603G>A|_NM_001321282.1:c.-1105-310G>A|_NM_001321283.1:c.-74-310G>A|_NM_001321285.1:c.-237-603G>A|_NM_017636.3:c.301G>A;Coding_region_change_in_longest_transcript=,NM_017636.3:c.301G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0189;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,72;GENEINFO_dbsnp_common_v150_hg19_refseq=,TRPM4:54795;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:54795;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:54795;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:17993;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:17993;Homo_sapiens_refseq_GRCh37.p13_Genes=,TRPM4;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001195227.1|NM_017636.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene36662;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna53849|rna53848;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant|SO:0001627|intron_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:606936;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:606936;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene36662;QUAL=,200.0;R5_dbsnp_common_v150_hg19_refseq=,R5;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,49671207;RS_dbsnp_common_v150_hg19_refseq=,113984787;Read_count=,54;Read_coverage=,111;Read_direction_test_probability=,0.5034404685746432;Read_position_test_probability=,0.41767685996217485;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001195227.1|NM_017636.3;Reverse_read_coverage=,39;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0348;SF=1,35,39;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.984855|0.0151453;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x0501000a0a05140536000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.069;db_xref=,GeneID:54795|HGNC:HGNC:17993|MIM:606936;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001195227.1|Genbank:NM_017636.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,transient_receptor_potential_cation_channel_subfamily_M_member_4;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TRPM4;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TRPM4;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,hTRPM4|LTrpC4|PFHB1B|TRPM4B;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,transient_receptor_potential_cation_channel_subfamily_M_member_4|_transcript_variant_2|transient_receptor_potential_cation_channel_subfamily_M_member_4|_transcript_variant_1;transcript_id=,NM_001195227.1|NM_017636.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TRPM4:NM_001195227:exon4:c.G301A:p.A101T,TRPM4:NM_017636:exon4:c.G301A:p.A101T;cytoBand=19q13.33;genomicSuperDups=.;esp6500siv2_all=0.0176;esp6500siv2_ea=0.0187;esp6500siv2_all=0.0176;esp6500siv2_ea=0.0187;1000g2015aug_all=0.0159744;avsnp147=rs113984787;Kaviar_AF=0.0197151;Kaviar_AC=3048;Kaviar_AN=154602;ExAC_ALL=0.0211;ExAC_AFR=0.0145;ExAC_AMR=0.0076;ExAC_EAS=0.0002;ExAC_FIN=0.0358;ExAC_NFE=0.0222;ExAC_OTH=0.0253;ExAC_SAS=0.0352;CLNALLELEID=222811;CLNDN=Progressive_familial_heart_block_type_1B|not_specified|Cardiovascular_phenotype;CLNDISDB=Gene:8184,MedGen:C1970298,OMIM:604559|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.358;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.005;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=-0.99;MutationAssessor_pred=N;FATHMM_score=4.12;FATHMM_pred=T;PROVEAN_score=0.7;PROVEAN_pred=N;VEST3_score=0.026;CADD_raw=0.454;CADD_phred=7.068;DANN_score=0.954;fathmm-MKL_coding_score=0.009;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.895;MetaSVM_pred=T;MetaLR_score=0.002;MetaLR_pred=T;integrated_fitCons_score=0.646;integrated_confidence_value=0;GERP++_RS=2.27;phyloP7way_vertebrate=-0.804;phyloP20way_mammalian=-0.166;phastCons7way_vertebrate=0.357;phastCons20way_mammalian=0.892;SiPhy_29way_logOdds=7.937;GDI_full_10282015=.;dpsi_max_tissue=-0.1062;dpsi_zscore=-0.468;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=7.614e-05;gnomAD_exome_AFR=0.0003;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0.0002;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0003;gnomAD_exome_NFE=2.801e-05;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0094;gnomAD_genome_AFR=0.0062;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0.0137;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0146;gnomAD_genome_NFE=0.0114;gnomAD_genome_OTH=0.0118;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . 1:98:0,48 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:79:0,34 . . . 1:107:0,47 . . 19 49671212 220960;rs111783027 T G 200.00 . #_unique_end_positions=,36;#_unique_start_positions=,35;AC=3;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0144;AF_ESP_clinvar_20171029_hg19=,0.0176;AF_TGP_clinvar_20171029_hg19=,0.0160;ALLELEID_clinvar_20171029_hg19=,222812;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0115;AN=3;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.34;CAF_dbsnp_common_v150_hg19_refseq=,0.984|0.01597;CLNDISDB_clinvar_20171029_hg19=,Gene:8184|MedGen:C1970298|OMIM:604559|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Progressive_familial_heart_block_type_1B|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000019.9:g.49671212T>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001195227.1:c.306T>G|_NM_001321281.1:c.268-598T>G|_NM_001321282.1:c.-1105-305T>G|_NM_001321283.1:c.-74-305T>G|_NM_001321285.1:c.-237-598T>G|_NM_017636.3:c.306T>G;Coding_region_change_in_longest_transcript=,NM_017636.3:c.306T>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0189;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,82;GENEINFO_dbsnp_common_v150_hg19_refseq=,TRPM4:54795;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:54795;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:54795;Genotype=,G/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:17993;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:17993;Homo_sapiens_refseq_GRCh37.p13_Genes=,TRPM4;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001195227.1|NM_017636.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene36662;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna53849|rna53848;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001627|intron_variant|SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:606936;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:606936;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene36662;QUAL=,200.0;R5_dbsnp_common_v150_hg19_refseq=,R5;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,49671212;RS_dbsnp_common_v150_hg19_refseq=,111783027;Read_count=,61;Read_coverage=,120;Read_direction_test_probability=,0.4910748324150104;Read_position_test_probability=,0.6099001120810581;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001195227.1|NM_017636.3;Reverse_read_coverage=,38;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0348;SF=1,35,39;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.984855|0.0151453;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x0501000a0305140136000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.218;db_xref=,GeneID:54795|HGNC:HGNC:17993|MIM:606936;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001195227.1|Genbank:NM_017636.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,transient_receptor_potential_cation_channel_subfamily_M_member_4;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TRPM4;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TRPM4;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,hTRPM4|LTrpC4|PFHB1B|TRPM4B;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,transient_receptor_potential_cation_channel_subfamily_M_member_4|_transcript_variant_2|transient_receptor_potential_cation_channel_subfamily_M_member_4|_transcript_variant_1;transcript_id=,NM_001195227.1|NM_017636.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TRPM4:NM_001195227:exon4:c.T306G:p.V102V,TRPM4:NM_017636:exon4:c.T306G:p.V102V;cytoBand=19q13.33;genomicSuperDups=.;esp6500siv2_all=0.0176;esp6500siv2_ea=0.0187;esp6500siv2_all=0.0176;esp6500siv2_ea=0.0187;1000g2015aug_all=0.0159744;avsnp147=rs111783027;Kaviar_AF=0.0031242;Kaviar_AC=483;Kaviar_AN=154602;ExAC_ALL=0.0211;ExAC_AFR=0.0145;ExAC_AMR=0.0076;ExAC_EAS=0.0002;ExAC_FIN=0.0358;ExAC_NFE=0.0222;ExAC_OTH=0.0253;ExAC_SAS=0.0352;CLNALLELEID=222812;CLNDN=Progressive_familial_heart_block_type_1B|not_specified|Cardiovascular_phenotype;CLNDISDB=Gene:8184,MedGen:C1970298,OMIM:604559|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.6782;dpsi_zscore=1.854;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=8.879e-05;gnomAD_exome_AFR=0.0003;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0.0002;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0005;gnomAD_exome_NFE=1.867e-05;gnomAD_exome_OTH=0.0002;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0094;gnomAD_genome_AFR=0.0062;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0.0137;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0146;gnomAD_genome_NFE=0.0113;gnomAD_genome_OTH=0.0118;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . 1:107:0,55 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:87:0,40 . . . 1:123:0,61 . . 19 49671281 329846;rs34333830 G A 200.00 . #_unique_end_positions=,42;#_unique_start_positions=,36;AC=3;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0885;AF_ESP_clinvar_20171029_hg19=,0.0551;AF_EXAC_clinvar_20171029_hg19=,0.06297;AF_TGP_clinvar_20171029_hg19=,0.0911;ALLELEID_clinvar_20171029_hg19=,334052;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0346;AN=3;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.09;CAF_dbsnp_common_v150_hg19_refseq=,0.9089|0.09105;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374|MedGen:CN206278|Orphanet:ORPHA871;CLNDN_clinvar_20171029_hg19=,not_specified|Progressive_familial_heart_block;CLNHGVS_clinvar_20171029_hg19=,NC_000019.9:g.49671281G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:63622;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001195227.1:c.375G>A|_NM_001321281.1:c.268-529G>A|_NM_001321282.1:c.-1105-236G>A|_NM_001321283.1:c.-74-236G>A|_NM_001321285.1:c.-237-529G>A|_NM_017636.3:c.375G>A;Coding_region_change_in_longest_transcript=,NM_017636.3:c.375G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1617;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0497;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,94;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TRPM4:54795;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:54795;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:54795;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:17993;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:17993;Homo_sapiens_refseq_GRCh37.p13_Genes=,TRPM4;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001195227.1|NM_017636.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene36662;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna53849|rna53848;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001627|intron_variant|SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:606936;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:606936;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene36662;QUAL=,200.0;R5_dbsnp_common_v150_hg19_refseq=,R5;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,49671281;RS_dbsnp_common_v150_hg19_refseq=,34333830;Read_count=,66;Read_coverage=,140;Read_direction_test_probability=,0.8705344743353713;Read_position_test_probability=,0.8584288890507811;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001195227.1|NM_017636.3;Reverse_read_coverage=,46;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1043;SF=6,10,19;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.928944|0.0710557;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x0501000a0305150036000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.0;db_xref=,GeneID:54795|HGNC:HGNC:17993|MIM:606936;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001195227.1|Genbank:NM_017636.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,transient_receptor_potential_cation_channel_subfamily_M_member_4;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TRPM4;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TRPM4;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,hTRPM4|LTrpC4|PFHB1B|TRPM4B;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,transient_receptor_potential_cation_channel_subfamily_M_member_4|_transcript_variant_2|transient_receptor_potential_cation_channel_subfamily_M_member_4|_transcript_variant_1;transcript_id=,NM_001195227.1|NM_017636.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TRPM4:NM_001195227:exon4:c.G375A:p.S125S,TRPM4:NM_017636:exon4:c.G375A:p.S125S;cytoBand=19q13.33;genomicSuperDups=.;esp6500siv2_all=0.0551;esp6500siv2_ea=0.0423;esp6500siv2_all=0.0551;esp6500siv2_ea=0.0423;1000g2015aug_all=0.0910543;avsnp147=rs34333830;Kaviar_AF=0.060355;Kaviar_AC=9331;Kaviar_AN=154602;ExAC_ALL=0.0630;ExAC_AFR=0.0825;ExAC_AMR=0.0406;ExAC_EAS=0.1578;ExAC_FIN=0.0309;ExAC_NFE=0.0500;ExAC_OTH=0.0665;ExAC_SAS=0.0817;CLNALLELEID=334052;CLNDN=not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN206278,Orphanet:ORPHA871|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.2111;dpsi_zscore=-1.584;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0606;gnomAD_exome_AFR=0.0786;gnomAD_exome_AMR=0.0380;gnomAD_exome_ASJ=0.1158;gnomAD_exome_EAS=0.1568;gnomAD_exome_FIN=0.0311;gnomAD_exome_NFE=0.0456;gnomAD_exome_OTH=0.0613;gnomAD_exome_SAS=0.0794;gnomAD_genome_ALL=0.0585;gnomAD_genome_AFR=0.0793;gnomAD_genome_AMR=0.0525;gnomAD_genome_ASJ=0.1589;gnomAD_genome_EAS=0.1623;gnomAD_genome_FIN=0.0341;gnomAD_genome_NFE=0.0403;gnomAD_genome_OTH=0.0410;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . 1:125:0,59 . . . 1:201:0,87 . . . . . . . . 1:169:0,81 . . . . . . . . . . . . . . . . . . . . . . 19 49671838 . G A 200.00 . #_unique_end_positions=,59;#_unique_start_positions=,55;AC=1;AN=1;Amino_acid_change=,NP_001182156.1:p.Arg214His|_NP_060106.2:p.Arg214His|_NP_001308212.1:p.Arg40His|_NP_001308210.1:p.Arg99His;Amino_acid_change_in_longest_transcript=,NP_060106.2:p.Arg214His;BaseQRankSum=,-0.02;Coding_region_change=,NM_001195227.1:c.641G>A|_NM_001321281.1:c.296G>A|_NM_001321282.1:c.-913G>A|_NM_001321283.1:c.119G>A|_NM_001321285.1:c.-209G>A|_NM_017636.3:c.641G>A;Coding_region_change_in_longest_transcript=,NM_017636.3:c.641G>A;Forward_read_coverage=,133;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:54795;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:54795;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:17993;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:17993;Homo_sapiens_refseq_GRCh37.p13_Genes=,TRPM4;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001321285.1|NM_001321281.1|NM_001321283.1|NM_001321282.1|NM_001195227.1|NM_017636.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene36662;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna53847|rna53845|rna53846|rna53844|rna53849|rna53848;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:606936;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:606936;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene36662;QUAL=,200.0;Read_count=,103;Read_coverage=,229;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9317588630752786;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001321285.1|NM_001321281.1|NM_001321283.1|NM_001321282.1|NM_001195227.1|NM_017636.3;Reverse_read_coverage=,96;SF=12;conservation_score=,0.081;db_xref=,GeneID:54795|HGNC:HGNC:17993|MIM:606936;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001321285.1|Genbank:NM_001321281.1|Genbank:NM_001321283.1|Genbank:NM_001321282.1|Genbank:NM_001195227.1|Genbank:NM_017636.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,transient_receptor_potential_cation_channel_subfamily_M_member_4;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TRPM4;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TRPM4;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,hTRPM4|LTrpC4|PFHB1B|TRPM4B;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,transient_receptor_potential_cation_channel_subfamily_M_member_4|_transcript_variant_6|transient_receptor_potential_cation_channel_subfamily_M_member_4|_transcript_variant_3|transient_receptor_potential_cation_channel_subfamily_M_member_4|_transcript_variant_5|transient_receptor_potential_cation_channel_subfamily_M_member_4|_transcript_variant_4|transient_receptor_potential_cation_channel_subfamily_M_member_4|_transcript_variant_2|transient_receptor_potential_cation_channel_subfamily_M_member_4|_transcript_variant_1;transcript_id=,NM_001321285.1|NM_001321281.1|NM_001321283.1|NM_001321282.1|NM_001195227.1|NM_017636.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TRPM4:NM_001195227:exon6:c.G641A:p.R214H,TRPM4:NM_017636:exon6:c.G641A:p.R214H;cytoBand=19q13.33;genomicSuperDups=.;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;1000g2015aug_all=.;avsnp147=rs145878044;Kaviar_AF=9.06e-05;Kaviar_AC=14;Kaviar_AN=154602;ExAC_ALL=0.0001;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0.0002;ExAC_FIN=0;ExAC_NFE=0.0002;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.148;SIFT_pred=T;Polyphen2_HDIV_score=0.054;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.01;Polyphen2_HVAR_pred=B;LRT_score=0.243;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=0.805;MutationAssessor_pred=L;FATHMM_score=4.08;FATHMM_pred=T;PROVEAN_score=-0.06;PROVEAN_pred=N;VEST3_score=0.094;CADD_raw=0.370;CADD_phred=6.353;DANN_score=0.994;fathmm-MKL_coding_score=0.011;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.991;MetaSVM_pred=T;MetaLR_score=0.011;MetaLR_pred=T;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=-1.47;phyloP7way_vertebrate=0.609;phyloP20way_mammalian=-0.357;phastCons7way_vertebrate=0.892;phastCons20way_mammalian=0.003;SiPhy_29way_logOdds=10.336;GDI_full_10282015=.;dpsi_max_tissue=0.0367;dpsi_zscore=0.234;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=7.317e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=2.979e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=5.798e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0001;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=3.236e-05;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:DP:CLCAD2 . . . . . . . . . . . . 1:211:0,96 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 19 49671980 220961;rs111930830 G A 200.00 . #_unique_end_positions=,56;#_unique_start_positions=,45;AC=3;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0144;AF_ESP_clinvar_20171029_hg19=,0.0176;AF_EXAC_clinvar_20171029_hg19=,0.04005;AF_TGP_clinvar_20171029_hg19=,0.0158;ALLELEID_clinvar_20171029_hg19=,222814;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0101;AN=3;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.26;CAF_dbsnp_common_v150_hg19_refseq=,0.9842|0.01577;CLNDISDB_clinvar_20171029_hg19=,Gene:8184|MedGen:C1970298|OMIM:604559|MedGen:CN169374|MedGen:CN206278|Orphanet:ORPHA871;CLNDN_clinvar_20171029_hg19=,Progressive_familial_heart_block_type_1B|not_specified|Progressive_familial_heart_block;CLNHGVS_clinvar_20171029_hg19=,NC_000019.9:g.49671980G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:110343;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001195227.1:c.783G>A|_NM_001321281.1:c.438G>A|_NM_001321282.1:c.-771G>A|_NM_001321283.1:c.261G>A|_NM_001321285.1:c.-67G>A|_NM_017636.3:c.783G>A;Coding_region_change_in_longest_transcript=,NM_017636.3:c.783G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0189;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,33;GENEINFO_dbsnp_common_v150_hg19_refseq=,TRPM4:54795;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:54795;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:54795;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:17993;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:17993;Homo_sapiens_refseq_GRCh37.p13_Genes=,TRPM4;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001321285.1|NM_001321281.1|NM_001321283.1|NM_001321282.1|NM_001195227.1|NM_017636.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene36662;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna53847|rna53845|rna53846|rna53844|rna53849|rna53848;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001623|5_prime_UTR_variant|SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:606936;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:606936;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene36662;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,49671980;RS_dbsnp_common_v150_hg19_refseq=,111930830;Read_count=,91;Read_coverage=,182;Read_direction_test_probability=,0.9379592802754917;Read_position_test_probability=,0.3382498294203842;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001321285.1|NM_001321281.1|NM_001321283.1|NM_001321282.1|NM_001195227.1|NM_017636.3;Reverse_read_coverage=,149;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0348;SF=1,35,39;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.983962|0.0160382;U5_dbsnp_common_v150_hg19_refseq=,U5;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050100400305140536000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:54795|HGNC:HGNC:17993|MIM:606936;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001321285.1|Genbank:NM_001321281.1|Genbank:NM_001321283.1|Genbank:NM_001321282.1|Genbank:NM_001195227.1|Genbank:NM_017636.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,transient_receptor_potential_cation_channel_subfamily_M_member_4;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TRPM4;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TRPM4;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,hTRPM4|LTrpC4|PFHB1B|TRPM4B;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,transient_receptor_potential_cation_channel_subfamily_M_member_4|_transcript_variant_6|transient_receptor_potential_cation_channel_subfamily_M_member_4|_transcript_variant_3|transient_receptor_potential_cation_channel_subfamily_M_member_4|_transcript_variant_5|transient_receptor_potential_cation_channel_subfamily_M_member_4|_transcript_variant_4|transient_receptor_potential_cation_channel_subfamily_M_member_4|_transcript_variant_2|transient_receptor_potential_cation_channel_subfamily_M_member_4|_transcript_variant_1;transcript_id=,NM_001321285.1|NM_001321281.1|NM_001321283.1|NM_001321282.1|NM_001195227.1|NM_017636.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TRPM4:NM_001195227:exon6:c.G783A:p.K261K,TRPM4:NM_017636:exon6:c.G783A:p.K261K;cytoBand=19q13.33;genomicSuperDups=.;esp6500siv2_all=0.0176;esp6500siv2_ea=0.0185;esp6500siv2_all=0.0176;esp6500siv2_ea=0.0185;1000g2015aug_all=0.0157748;avsnp147=rs111930830;Kaviar_AF=0.0187643;Kaviar_AC=2901;Kaviar_AN=154602;ExAC_ALL=0.0400;ExAC_AFR=0.0266;ExAC_AMR=0.0190;ExAC_EAS=0.0003;ExAC_FIN=0.0961;ExAC_NFE=0.0435;ExAC_OTH=0.0531;ExAC_SAS=0.0485;CLNALLELEID=222814;CLNDN=Progressive_familial_heart_block_type_1B|not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype;CLNDISDB=Gene:8184,MedGen:C1970298,OMIM:604559|MedGen:CN169374|MedGen:CN206278,Orphanet:ORPHA871|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0639;dpsi_zscore=-0.324;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0220;gnomAD_exome_AFR=0.0171;gnomAD_exome_AMR=0.0067;gnomAD_exome_ASJ=0.0314;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0.0387;gnomAD_exome_NFE=0.0225;gnomAD_exome_OTH=0.0196;gnomAD_exome_SAS=0.0367;gnomAD_genome_ALL=0.0244;gnomAD_genome_AFR=0.0142;gnomAD_genome_AMR=0.0060;gnomAD_genome_ASJ=0.0298;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0350;gnomAD_genome_NFE=0.0307;gnomAD_genome_OTH=0.0367;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . 1:171:0,86 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:130:0,65 . . . 1:155:0,89 . . 19 49674846 386319;rs141997826 C T 200.00 . #_unique_end_positions=,50;#_unique_start_positions=,44;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;ALLELEID_clinvar_20171029_hg19=,377819;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0014;AN=1;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-1.53;CLNDISDB_clinvar_20171029_hg19=,Gene:8184|MedGen:C1970298|OMIM:604559|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Progressive_familial_heart_block_type_1B|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000019.9:g.49674846C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;Coding_region_change=,NM_001195227.1:c.870C>T|_NM_001321281.1:c.525C>T|_NM_001321282.1:c.-684C>T|_NM_001321283.1:c.348C>T|_NM_001321285.1:c.21C>T|_NM_017636.3:c.870C>T;Coding_region_change_in_longest_transcript=,NM_017636.3:c.870C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0030;Exact_match=,clinvar_20171029_hg19|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,104;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:54795;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:54795;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:17993;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:17993;Homo_sapiens_refseq_GRCh37.p13_Genes=,TRPM4;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001321285.1|NM_001321281.1|NM_001321283.1|NM_001321282.1|NM_001195227.1|NM_017636.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene36662;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna53847|rna53845|rna53846|rna53844|rna53849|rna53848;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:606936;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:606936;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene36662;QUAL=,200.0;Read_count=,72;Read_coverage=,161;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.855185519313962;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001321285.1|NM_001321281.1|NM_001321283.1|NM_001321282.1|NM_001195227.1|NM_017636.3;Reverse_read_coverage=,57;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=15;conservation_score=,0.392;db_xref=,GeneID:54795|HGNC:HGNC:17993|MIM:606936;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001321285.1|Genbank:NM_001321281.1|Genbank:NM_001321283.1|Genbank:NM_001321282.1|Genbank:NM_001195227.1|Genbank:NM_017636.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,transient_receptor_potential_cation_channel_subfamily_M_member_4;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TRPM4;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TRPM4;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,hTRPM4|LTrpC4|PFHB1B|TRPM4B;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,transient_receptor_potential_cation_channel_subfamily_M_member_4|_transcript_variant_6|transient_receptor_potential_cation_channel_subfamily_M_member_4|_transcript_variant_3|transient_receptor_potential_cation_channel_subfamily_M_member_4|_transcript_variant_5|transient_receptor_potential_cation_channel_subfamily_M_member_4|_transcript_variant_4|transient_receptor_potential_cation_channel_subfamily_M_member_4|_transcript_variant_2|transient_receptor_potential_cation_channel_subfamily_M_member_4|_transcript_variant_1;transcript_id=,NM_001321285.1|NM_001321281.1|NM_001321283.1|NM_001321282.1|NM_001195227.1|NM_017636.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TRPM4:NM_001195227:exon8:c.C870T:p.N290N,TRPM4:NM_017636:exon8:c.C870T:p.N290N;cytoBand=19q13.33;genomicSuperDups=.;esp6500siv2_all=0.0038;esp6500siv2_ea=0.0056;esp6500siv2_all=0.0038;esp6500siv2_ea=0.0056;1000g2015aug_all=0.000798722;avsnp147=rs141997826;Kaviar_AF=0.003247;Kaviar_AC=502;Kaviar_AN=154602;ExAC_ALL=0.0031;ExAC_AFR=0.0004;ExAC_AMR=0.0015;ExAC_EAS=0.0001;ExAC_FIN=0.0074;ExAC_NFE=0.0045;ExAC_OTH=0.0045;ExAC_SAS=0.0003;CLNALLELEID=377819;CLNDN=Progressive_familial_heart_block_type_1B|not_specified|Cardiovascular_phenotype;CLNDISDB=Gene:8184,MedGen:C1970298,OMIM:604559|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0507;dpsi_zscore=0.301;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0032;gnomAD_exome_AFR=0.0005;gnomAD_exome_AMR=0.0012;gnomAD_exome_ASJ=0.0026;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0.0070;gnomAD_exome_NFE=0.0046;gnomAD_exome_OTH=0.0044;gnomAD_exome_SAS=0.0003;gnomAD_genome_ALL=0.0047;gnomAD_genome_AFR=0.0003;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0066;gnomAD_genome_NFE=0.0074;gnomAD_genome_OTH=0.0071;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:DP:CLCAD2 . . . . . . . . . . . . . . . 1:151:0,69 . . . . . . . . . . . . . . . . . . . . . . . . . . 19 49675017 329852;rs61732831 G T 200.00 . #_unique_end_positions=,25;#_unique_start_positions=,24;AC=3;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0008;AF_ESP_clinvar_20171029_hg19=,0.0275;AF_EXAC_clinvar_20171029_hg19=,0.05088;AF_TGP_clinvar_20171029_hg19=,0.0597;ALLELEID_clinvar_20171029_hg19=,334064;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0259;AN=3;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.45;CAF_dbsnp_common_v150_hg19_refseq=,0.9403|0.0597;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374|MedGen:CN206278|Orphanet:ORPHA871;CLNDN_clinvar_20171029_hg19=,not_specified|Progressive_familial_heart_block;CLNHGVS_clinvar_20171029_hg19=,NC_000019.9:g.49675017G>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:80464;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001195227.1:c.1041G>T|_NM_001321281.1:c.696G>T|_NM_001321282.1:c.-513G>T|_NM_001321283.1:c.519G>T|_NM_001321285.1:c.192G>T|_NM_017636.3:c.1041G>T;Coding_region_change_in_longest_transcript=,NM_017636.3:c.1041G>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1617;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0417;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,25;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TRPM4:54795;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:54795;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:54795;Genotype=,G/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:17993;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:17993;Homo_sapiens_refseq_GRCh37.p13_Genes=,TRPM4;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001321285.1|NM_001321281.1|NM_001321283.1|NM_001321282.1|NM_001195227.1|NM_017636.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene36662;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna53847|rna53845|rna53846|rna53844|rna53849|rna53848;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001623|5_prime_UTR_variant|SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:606936;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:606936;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene36662;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,49675017;RS_dbsnp_common_v150_hg19_refseq=,61732831;Read_count=,31;Read_coverage=,63;Read_direction_test_probability=,0.9890509891657466;Read_position_test_probability=,0.9493204340820355;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001321285.1|NM_001321281.1|NM_001321283.1|NM_001321282.1|NM_001195227.1|NM_017636.3;Reverse_read_coverage=,38;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0767;SF=6,10,19;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.964661|0.035339;U5_dbsnp_common_v150_hg19_refseq=,U5;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05010040030515053e000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.987;db_xref=,GeneID:54795|HGNC:HGNC:17993|MIM:606936;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001321285.1|Genbank:NM_001321281.1|Genbank:NM_001321283.1|Genbank:NM_001321282.1|Genbank:NM_001195227.1|Genbank:NM_017636.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,transient_receptor_potential_cation_channel_subfamily_M_member_4;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TRPM4;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TRPM4;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,hTRPM4|LTrpC4|PFHB1B|TRPM4B;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,transient_receptor_potential_cation_channel_subfamily_M_member_4|_transcript_variant_6|transient_receptor_potential_cation_channel_subfamily_M_member_4|_transcript_variant_3|transient_receptor_potential_cation_channel_subfamily_M_member_4|_transcript_variant_5|transient_receptor_potential_cation_channel_subfamily_M_member_4|_transcript_variant_4|transient_receptor_potential_cation_channel_subfamily_M_member_4|_transcript_variant_2|transient_receptor_potential_cation_channel_subfamily_M_member_4|_transcript_variant_1;transcript_id=,NM_001321285.1|NM_001321281.1|NM_001321283.1|NM_001321282.1|NM_001195227.1|NM_017636.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TRPM4:NM_001195227:exon8:c.G1041T:p.L347L,TRPM4:NM_017636:exon8:c.G1041T:p.L347L;cytoBand=19q13.33;genomicSuperDups=.;esp6500siv2_all=0.0275;esp6500siv2_ea=0.0372;esp6500siv2_all=0.0275;esp6500siv2_ea=0.0372;1000g2015aug_all=0.0597045;avsnp147=rs61732831;Kaviar_AF=0.0467782;Kaviar_AC=7232;Kaviar_AN=154602;ExAC_ALL=0.0509;ExAC_AFR=0.0075;ExAC_AMR=0.0339;ExAC_EAS=0.1597;ExAC_FIN=0.0338;ExAC_NFE=0.0455;ExAC_OTH=0.0489;ExAC_SAS=0.0595;CLNALLELEID=334064;CLNDN=not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN206278,Orphanet:ORPHA871|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0902;dpsi_zscore=-0.419;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0481;gnomAD_exome_AFR=0.0068;gnomAD_exome_AMR=0.0285;gnomAD_exome_ASJ=0.0747;gnomAD_exome_EAS=0.1534;gnomAD_exome_FIN=0.0314;gnomAD_exome_NFE=0.0418;gnomAD_exome_OTH=0.0438;gnomAD_exome_SAS=0.0564;gnomAD_genome_ALL=0.0355;gnomAD_genome_AFR=0.0068;gnomAD_genome_AMR=0.0370;gnomAD_genome_ASJ=0.0861;gnomAD_genome_EAS=0.1592;gnomAD_genome_FIN=0.0341;gnomAD_genome_NFE=0.0381;gnomAD_genome_OTH=0.0348;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . 1:59:0,29 . . . 1:116:0,41 . . . . . . . . 1:101:0,41 . . . . . . . . . . . . . . . . . . . . . . 19 49686028 241175;rs568416785 CCAAAGCCCCAGCCCTAAAAGGGGGAGCTGCGGAGCT C 200.00 . #_unique_end_positions=,61;#_unique_start_positions=,54;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0030;ALLELEID_clinvar_20171029_hg19=,243379;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0072;AN=1;Amino_acid_change=,NP_001308212.1:p.Lys313_Leu324del|_NP_001182156.1:p.Lys487_Leu498del|_NP_001308210.1:p.Lys372_Leu383del|_NP_001308214.1:p.Lys133_Leu144del|_NP_060106.2:p.Lys487_Leu498del;Amino_acid_change_in_longest_transcript=,NP_060106.2:p.Lys487_Leu498del;BaseQRankSum=,0.89;CLNDISDB_clinvar_20171029_hg19=,Gene:8184|MedGen:C1970298|OMIM:604559|MedGen:C1142166|Orphanet:ORPHA130|SNOMED_CT:418818005;CLNDN_clinvar_20171029_hg19=,Progressive_familial_heart_block_type_1B|Brugada_syndrome;CLNHGVS_clinvar_20171029_hg19=,NC_000019.9:g.49686030_49686065del;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_conflicting_interpretations;CLNVCSO_clinvar_20171029_hg19=,SO:0000159;CLNVC_clinvar_20171029_hg19=,Deletion;Coding_region_change=,NM_001195227.1:c.1459_1494del|_NM_001321281.1:c.1114_1149del|_NM_001321282.1:c.-95_-60del|_NM_001321283.1:c.937_972del|_NM_001321285.1:c.397_432del|_NM_017636.3:c.1459_1494del;Coding_region_change_in_longest_transcript=,NM_017636.3:c.1459_1494del;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0089;Exact_match=,clinvar_20171029_hg19|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,92;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:54795;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:54795;Genotype=,complex;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:17993;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:17993;Homo_sapiens_refseq_GRCh37.p13_Genes=,TRPM4;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001321285.1|NM_001321281.1|NM_001321283.1|NM_001321282.1|NM_001195227.1|NM_017636.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene36662;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna53847|rna53845|rna53846|rna53844|rna53849|rna53848;MC_clinvar_20171029_hg19=,SO:0001623|5_prime_UTR_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:606936;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:606936;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene36662;QUAL=,200.0;Read_count=,100;Read_coverage=,186;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9331738458113554;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001321285.1|NM_001321281.1|NM_001321283.1|NM_001321282.1|NM_001195227.1|NM_017636.3;Reverse_read_coverage=,94;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0041;SF=0;Start_by_3'_rule=,49686029;Symbols_by_3'_rule=,49686029:_AAAGCCCCAGCCCTAAAAGGGGGAGCTGCGGAGCTC;conservation_score=,0.07311111111111109;db_xref=,GeneID:54795|HGNC:HGNC:17993|MIM:606936;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001321285.1|Genbank:NM_001321281.1|Genbank:NM_001321283.1|Genbank:NM_001321282.1|Genbank:NM_001195227.1|Genbank:NM_017636.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,transient_receptor_potential_cation_channel_subfamily_M_member_4;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TRPM4;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TRPM4;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,hTRPM4|LTrpC4|PFHB1B|TRPM4B;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,transient_receptor_potential_cation_channel_subfamily_M_member_4|_transcript_variant_6|transient_receptor_potential_cation_channel_subfamily_M_member_4|_transcript_variant_3|transient_receptor_potential_cation_channel_subfamily_M_member_4|_transcript_variant_5|transient_receptor_potential_cation_channel_subfamily_M_member_4|_transcript_variant_4|transient_receptor_potential_cation_channel_subfamily_M_member_4|_transcript_variant_2|transient_receptor_potential_cation_channel_subfamily_M_member_4|_transcript_variant_1;transcript_id=,NM_001321285.1|NM_001321281.1|NM_001321283.1|NM_001321282.1|NM_001195227.1|NM_017636.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=nonframeshift_deletion;AAChange.refGene=TRPM4:NM_001195227:exon11:c.1458_1493del:p.486_498del,TRPM4:NM_017636:exon11:c.1458_1493del:p.486_498del;cytoBand=19q13.33;genomicSuperDups=.;esp6500siv2_all=0.0074;esp6500siv2_ea=0.0098;esp6500siv2_all=0.0074;esp6500siv2_ea=0.0098;1000g2015aug_all=0.00439297;avsnp147=rs568416785;Kaviar_AF=0.0002264;Kaviar_AC=35;Kaviar_AN=154602;ExAC_ALL=0.0083;ExAC_AFR=0.0021;ExAC_AMR=0.0084;ExAC_EAS=0.0001;ExAC_FIN=0.0050;ExAC_NFE=0.0112;ExAC_OTH=0.0104;ExAC_SAS=0.0059;CLNALLELEID=243379;CLNDN=Progressive_familial_heart_block_type_1B|Brugada_syndrome|Cardiovascular_phenotype;CLNDISDB=Gene:8184,MedGen:C1970298,OMIM:604559|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN230736;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0078;gnomAD_exome_AFR=0.0017;gnomAD_exome_AMR=0.0059;gnomAD_exome_ASJ=0.0143;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0.0035;gnomAD_exome_NFE=0.0111;gnomAD_exome_OTH=0.0101;gnomAD_exome_SAS=0.0061;gnomAD_genome_ALL=0.0071;gnomAD_genome_AFR=0.0022;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0.0132;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0060;gnomAD_genome_NFE=0.0113;gnomAD_genome_OTH=0.0071;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:149:0,81 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 19 49692270 . G A 200.00 . #_unique_end_positions=,55;#_unique_start_positions=,60;AC=1;AN=1;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.75;Coding_region_change=,NM_001195227.1:c.1941G>A|_NM_001321281.1:c.1596G>A|_NM_001321282.1:c.333G>A|_NM_001321283.1:c.1419G>A|_NM_001321285.1:c.879G>A|_NM_017636.3:c.1941G>A;Coding_region_change_in_longest_transcript=,NM_017636.3:c.1941G>A;Forward_read_coverage=,125;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:54795;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:54795;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:17993;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:17993;Homo_sapiens_refseq_GRCh37.p13_Genes=,TRPM4;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001321285.1|NM_001321281.1|NM_001321283.1|NM_001321282.1|NM_001195227.1|NM_017636.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene36662;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna53847|rna53845|rna53846|rna53844|rna53849|rna53848;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:606936;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:606936;Non-synonymous=,No;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene36662;QUAL=,200.0;Read_count=,118;Read_coverage=,253;Read_direction_test_probability=,0.9921828183387161;Read_position_test_probability=,0.9571371677693611;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001321285.1|NM_001321281.1|NM_001321283.1|NM_001321282.1|NM_001195227.1|NM_017636.3;Reverse_read_coverage=,128;SF=30;conservation_score=,0.939;db_xref=,GeneID:54795|HGNC:HGNC:17993|MIM:606936;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001321285.1|Genbank:NM_001321281.1|Genbank:NM_001321283.1|Genbank:NM_001321282.1|Genbank:NM_001195227.1|Genbank:NM_017636.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,transient_receptor_potential_cation_channel_subfamily_M_member_4;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TRPM4;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TRPM4;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,hTRPM4|LTrpC4|PFHB1B|TRPM4B;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,transient_receptor_potential_cation_channel_subfamily_M_member_4|_transcript_variant_6|transient_receptor_potential_cation_channel_subfamily_M_member_4|_transcript_variant_3|transient_receptor_potential_cation_channel_subfamily_M_member_4|_transcript_variant_5|transient_receptor_potential_cation_channel_subfamily_M_member_4|_transcript_variant_4|transient_receptor_potential_cation_channel_subfamily_M_member_4|_transcript_variant_2|transient_receptor_potential_cation_channel_subfamily_M_member_4|_transcript_variant_1;transcript_id=,NM_001321285.1|NM_001321281.1|NM_001321283.1|NM_001321282.1|NM_001195227.1|NM_017636.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TRPM4:NM_001195227:exon14:c.G1941A:p.P647P,TRPM4:NM_017636:exon14:c.G1941A:p.P647P;cytoBand=19q13.33;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs779169668;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=8.259e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.503e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.3140;dpsi_zscore=-0.873;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=1.227e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=2.728e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:221:0,104 . . . . . . . . . . . 19 49699866 329864;rs3745301 C T 200.00 . #_unique_end_positions=,60;#_unique_start_positions=,58;AC=6;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1384;AF_ESP_clinvar_20171029_hg19=,0.0628;AF_EXAC_clinvar_20171029_hg19=,0.10012;AF_TGP_clinvar_20171029_hg19=,0.1124;ALLELEID_clinvar_20171029_hg19=,350218;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0648;AN=6;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.14;CAF_dbsnp_common_v150_hg19_refseq=,0.8876|0.1124;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374|MedGen:CN206278|Orphanet:ORPHA871;CLNDN_clinvar_20171029_hg19=,not_specified|Progressive_familial_heart_block;CLNHGVS_clinvar_20171029_hg19=,NC_000019.9:g.49699866C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:63650;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001195227.1:c.2211-3691C>T|_NM_001321281.1:c.2035C>T|_NM_001321282.1:c.772C>T|_NM_001321283.1:c.1858C>T|_NM_001321285.1:c.1318C>T|_NM_017636.3:c.2380C>T;Coding_region_change_in_longest_transcript=,NM_017636.3:c.2380C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1875;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0577;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,132;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TRPM4:54795;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:54795;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:54795;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:17993;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:17993;Homo_sapiens_refseq_GRCh37.p13_Genes=,TRPM4;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001321285.1|NM_001321281.1|NM_001321283.1|NM_001321282.1|NM_017636.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene36662;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna53847|rna53845|rna53846|rna53844|rna53848;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001627|intron_variant|SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:606936;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:606936;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene36662;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,49699866;RS_dbsnp_common_v150_hg19_refseq=,3745301;Read_count=,108;Read_coverage=,199;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9245213864147928;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001321285.1|NM_001321281.1|NM_001321283.1|NM_001321282.1|NM_017636.3;Reverse_read_coverage=,67;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0900;SF=6,10,12,19,23,38;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.907755|0.0922453;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05010008030515053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.153061;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0619469;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.256098;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.229412;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.0738636;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.139535;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.104651;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.122222;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.1;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.111888;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.0795455;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.146018;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:54795|HGNC:HGNC:17993|MIM:606936;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001321285.1|Genbank:NM_001321281.1|Genbank:NM_001321283.1|Genbank:NM_001321282.1|Genbank:NM_017636.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,transient_receptor_potential_cation_channel_subfamily_M_member_4;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TRPM4;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TRPM4;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,hTRPM4|LTrpC4|PFHB1B|TRPM4B;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,transient_receptor_potential_cation_channel_subfamily_M_member_4|_transcript_variant_6|transient_receptor_potential_cation_channel_subfamily_M_member_4|_transcript_variant_3|transient_receptor_potential_cation_channel_subfamily_M_member_4|_transcript_variant_5|transient_receptor_potential_cation_channel_subfamily_M_member_4|_transcript_variant_4|transient_receptor_potential_cation_channel_subfamily_M_member_4|_transcript_variant_1;transcript_id=,NM_001321285.1|NM_001321281.1|NM_001321283.1|NM_001321282.1|NM_017636.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TRPM4:NM_017636:exon17:c.C2380T:p.L794L;cytoBand=19q13.33;genomicSuperDups=.;esp6500siv2_all=0.0628;esp6500siv2_ea=0.0411;esp6500siv2_all=0.0628;esp6500siv2_ea=0.0411;1000g2015aug_all=0.11242;avsnp147=rs3745301;Kaviar_AF=0.0482982;Kaviar_AC=7467;Kaviar_AN=154602;ExAC_ALL=0.1001;ExAC_AFR=0.1405;ExAC_AMR=0.1383;ExAC_EAS=0.2843;ExAC_FIN=0.1358;ExAC_NFE=0.0910;ExAC_OTH=0.0960;ExAC_SAS=0.0641;CLNALLELEID=350218;CLNDN=not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN206278,Orphanet:ORPHA871|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0294;dpsi_zscore=0.193;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0693;gnomAD_exome_AFR=0.1190;gnomAD_exome_AMR=0.0584;gnomAD_exome_ASJ=0.0959;gnomAD_exome_EAS=0.1880;gnomAD_exome_FIN=0.0303;gnomAD_exome_NFE=0.0515;gnomAD_exome_OTH=0.0742;gnomAD_exome_SAS=0.0621;gnomAD_genome_ALL=0.0744;gnomAD_genome_AFR=0.1202;gnomAD_genome_AMR=0.0728;gnomAD_genome_ASJ=0.1358;gnomAD_genome_EAS=0.1851;gnomAD_genome_FIN=0.0350;gnomAD_genome_NFE=0.0461;gnomAD_genome_OTH=0.0418;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . 1:178:0,96 . . . 1:225:0,98 . 1:272:0,141 . . . . . . 1:179:0,80 . . . 1:305:0,144 . . . . . . . . . . . . . . 1:166:0,81 . . . 19 49705249 329870;rs1175810 G A 200.00 . #_unique_end_positions=,49;#_unique_start_positions=,46;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0802;AF_ESP_clinvar_20171029_hg19=,0.0325;AF_EXAC_clinvar_20171029_hg19=,0.00897;AF_TGP_clinvar_20171029_hg19=,0.0234;ALLELEID_clinvar_20171029_hg19=,350222;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0159;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.37;CAF_dbsnp_common_v150_hg19_refseq=,0.9766|0.02336;CLNDISDB_clinvar_20171029_hg19=,Gene:8184|MedGen:C1970298|OMIM:604559|MedGen:CN169374|MedGen:CN206278|Orphanet:ORPHA871;CLNDN_clinvar_20171029_hg19=,Progressive_familial_heart_block_type_1B|not_specified|Progressive_familial_heart_block;CLNHGVS_clinvar_20171029_hg19=,NC_000019.9:g.49705249G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:548110;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001195227.1:c.2547G>A|_NM_001321281.1:c.2637G>A|_NM_001321282.1:c.1374G>A|_NM_001321283.1:c.2460G>A|_NM_001321285.1:c.1920G>A|_NM_017636.3:c.2982G>A;Coding_region_change_in_longest_transcript=,NM_017636.3:c.2982G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,150;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TRPM4:54795;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:54795;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:54795;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:17993;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:17993;Homo_sapiens_refseq_GRCh37.p13_Genes=,TRPM4;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001321285.1|NM_001321281.1|NM_001321283.1|NM_001321282.1|NM_001195227.1|NM_017636.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene36662;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna53847|rna53845|rna53846|rna53844|rna53849|rna53848;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:606936;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:606936;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene36662;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,49705249;RS_dbsnp_common_v150_hg19_refseq=,1175810;Read_count=,91;Read_coverage=,190;Read_direction_test_probability=,0.8736771495855812;Read_position_test_probability=,0.8685613690412115;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001321285.1|NM_001321281.1|NM_001321283.1|NM_001321282.1|NM_001195227.1|NM_017636.3;Reverse_read_coverage=,40;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=16;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.956796|0.0432035;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050100000305150537000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.0816327;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.105556;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.02;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.146853;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.106195;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.0;db_xref=,GeneID:54795|HGNC:HGNC:17993|MIM:606936;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001321285.1|Genbank:NM_001321281.1|Genbank:NM_001321283.1|Genbank:NM_001321282.1|Genbank:NM_001195227.1|Genbank:NM_017636.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,transient_receptor_potential_cation_channel_subfamily_M_member_4;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TRPM4;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TRPM4;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,hTRPM4|LTrpC4|PFHB1B|TRPM4B;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,transient_receptor_potential_cation_channel_subfamily_M_member_4|_transcript_variant_6|transient_receptor_potential_cation_channel_subfamily_M_member_4|_transcript_variant_3|transient_receptor_potential_cation_channel_subfamily_M_member_4|_transcript_variant_5|transient_receptor_potential_cation_channel_subfamily_M_member_4|_transcript_variant_4|transient_receptor_potential_cation_channel_subfamily_M_member_4|_transcript_variant_2|transient_receptor_potential_cation_channel_subfamily_M_member_4|_transcript_variant_1;transcript_id=,NM_001321285.1|NM_001321281.1|NM_001321283.1|NM_001321282.1|NM_001195227.1|NM_017636.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TRPM4:NM_001195227:exon19:c.G2547A:p.S849S,TRPM4:NM_017636:exon20:c.G2982A:p.S994S;cytoBand=19q13.33;genomicSuperDups=.;esp6500siv2_all=0.0324;esp6500siv2_ea=0.0002;esp6500siv2_all=0.0324;esp6500siv2_ea=0.0002;1000g2015aug_all=0.0233626;avsnp147=rs1175810;Kaviar_AF=0.0084992;Kaviar_AC=1314;Kaviar_AN=154602;ExAC_ALL=0.0090;ExAC_AFR=0.0954;ExAC_AMR=0.0050;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0003;ExAC_OTH=0.0022;ExAC_SAS=0.0010;CLNALLELEID=350222;CLNDN=Progressive_familial_heart_block_type_1B|not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype;CLNDISDB=Gene:8184,MedGen:C1970298,OMIM:604559|MedGen:CN169374|MedGen:CN206278,Orphanet:ORPHA871|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1912;dpsi_zscore=-0.670;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0073;gnomAD_exome_AFR=0.0959;gnomAD_exome_AMR=0.0064;gnomAD_exome_ASJ=0.0002;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0004;gnomAD_exome_OTH=0.0057;gnomAD_exome_SAS=0.0011;gnomAD_genome_ALL=0.0284;gnomAD_genome_AFR=0.0988;gnomAD_genome_AMR=0.0095;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0003;gnomAD_genome_OTH=0.0051;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . 1:168:0,77 . . . . . . . . . . . . . . . . . . . . . . . . . 19 49714497 381692;rs150391806 C T 200.00 . #_unique_end_positions=,51;#_unique_start_positions=,40;AC=2;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;ALLELEID_clinvar_20171029_hg19=,377844;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0058;AN=2;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001308212.1:p.Pro1030Leu|_NP_001182156.1:p.Pro1059Leu|_NP_001308210.1:p.Pro1089Leu|_NP_060106.2:p.Pro1204Leu|_NP_001308211.1:p.Pro668Leu|_NP_001308214.1:p.Pro850Leu;Amino_acid_change_in_longest_transcript=,NP_060106.2:p.Pro1204Leu;BaseQRankSum=,0.1;CAF_dbsnp_common_v150_hg19_refseq=,0.9984|0.001597;CLNDISDB_clinvar_20171029_hg19=,Gene:8184|MedGen:C1970298|OMIM:604559|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Progressive_familial_heart_block_type_1B|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000019.9:g.49714497C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,ARUP_Laboratories|_Molecular_Genetics_and_Genomics:50171;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001195227.1:c.3176C>T|_NM_001321281.1:c.3266C>T|_NM_001321282.1:c.2003C>T|_NM_001321283.1:c.3089C>T|_NM_001321285.1:c.2549C>T|_NM_017636.3:c.3611C>T;Coding_region_change_in_longest_transcript=,NM_017636.3:c.3611C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0030;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,67;GENEINFO_dbsnp_common_v150_hg19_refseq=,TRPM4:54795;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:54795;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:54795;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:17993;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:17993;Homo_sapiens_refseq_GRCh37.p13_Genes=,TRPM4;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001321285.1|NM_001321281.1|NM_001321283.1|NM_001321282.1|NM_001195227.1|NM_017636.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene36662;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna53847|rna53845|rna53846|rna53844|rna53849|rna53848;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:606936;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:606936;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;OM_dbsnp_common_v150_hg19_refseq=,OM;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene36662;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,49714497;RS_dbsnp_common_v150_hg19_refseq=,150391806;Read_count=,93;Read_coverage=,210;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9750658466940885;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001321285.1|NM_001321281.1|NM_001321283.1|NM_001321282.1|NM_001195227.1|NM_017636.3;Reverse_read_coverage=,143;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;SF=35,39;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.996257|0.00374339;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050060000a05040436110100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.702;db_xref=,GeneID:54795|HGNC:HGNC:17993|MIM:606936;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001321285.1|Genbank:NM_001321281.1|Genbank:NM_001321283.1|Genbank:NM_001321282.1|Genbank:NM_001195227.1|Genbank:NM_017636.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,transient_receptor_potential_cation_channel_subfamily_M_member_4;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TRPM4;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TRPM4;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,hTRPM4|LTrpC4|PFHB1B|TRPM4B;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,transient_receptor_potential_cation_channel_subfamily_M_member_4|_transcript_variant_6|transient_receptor_potential_cation_channel_subfamily_M_member_4|_transcript_variant_3|transient_receptor_potential_cation_channel_subfamily_M_member_4|_transcript_variant_5|transient_receptor_potential_cation_channel_subfamily_M_member_4|_transcript_variant_4|transient_receptor_potential_cation_channel_subfamily_M_member_4|_transcript_variant_2|transient_receptor_potential_cation_channel_subfamily_M_member_4|_transcript_variant_1;transcript_id=,NM_001321285.1|NM_001321281.1|NM_001321283.1|NM_001321282.1|NM_001195227.1|NM_017636.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TRPM4:NM_001195227:exon23:c.C3176T:p.P1059L,TRPM4:NM_017636:exon24:c.C3611T:p.P1204L;cytoBand=19q13.33;genomicSuperDups=.;esp6500siv2_all=0.0022;esp6500siv2_ea=0.0033;esp6500siv2_all=0.0022;esp6500siv2_ea=0.0033;1000g2015aug_all=0.00159744;avsnp147=rs150391806;Kaviar_AF=0.0027361;Kaviar_AC=423;Kaviar_AN=154602;ExAC_ALL=0.0038;ExAC_AFR=0.0002;ExAC_AMR=0.0032;ExAC_EAS=0.0017;ExAC_FIN=0.0144;ExAC_NFE=0.0051;ExAC_OTH=0.0025;ExAC_SAS=0.0012;CLNALLELEID=377844;CLNDN=Progressive_familial_heart_block_type_1B|not_specified|Cardiovascular_phenotype;CLNDISDB=Gene:8184,MedGen:C1970298,OMIM:604559|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.251;SIFT_pred=T;Polyphen2_HDIV_score=0.93;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.213;Polyphen2_HVAR_pred=B;LRT_score=1.000;LRT_pred=U;MutationTaster_score=0.996;MutationTaster_pred=D;MutationAssessor_score=0.55;MutationAssessor_pred=N;FATHMM_score=0.4;FATHMM_pred=T;PROVEAN_score=-1.81;PROVEAN_pred=N;VEST3_score=0.269;CADD_raw=4.157;CADD_phred=23.8;DANN_score=0.985;fathmm-MKL_coding_score=0.459;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.033;MetaSVM_pred=T;MetaLR_score=0.052;MetaLR_pred=T;integrated_fitCons_score=0.733;integrated_confidence_value=0;GERP++_RS=2.49;phyloP7way_vertebrate=0.598;phyloP20way_mammalian=0.065;phastCons7way_vertebrate=0.083;phastCons20way_mammalian=0.004;SiPhy_29way_logOdds=6.309;GDI_full_10282015=.;dpsi_max_tissue=-1.7296;dpsi_zscore=-1.808;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM131521#"Brugada_syndrome";gnomAD_exome_ALL=0.0035;gnomAD_exome_AFR=0.0004;gnomAD_exome_AMR=0.0025;gnomAD_exome_ASJ=0.0051;gnomAD_exome_EAS=0.0001;gnomAD_exome_FIN=0.0098;gnomAD_exome_NFE=0.0039;gnomAD_exome_OTH=0.0041;gnomAD_exome_SAS=0.0016;gnomAD_genome_ALL=0.0035;gnomAD_genome_AFR=0.0008;gnomAD_genome_AMR=0.0036;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.0077;gnomAD_genome_NFE=0.0042;gnomAD_genome_OTH=0.0051;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:178:0,83 . . . 1:219:0,109 . . 19 55665410 43391;rs3729841 C T 191.91 . #_unique_end_positions=,38;#_unique_start_positions=,39;AC=6;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0030;AF_ESP_clinvar_20171029_hg19=,0.0485;AF_EXAC_clinvar_20171029_hg19=,0.06598;AF_TGP_clinvar_20171029_hg19=,0.0477;ALLELEID_clinvar_20171029_hg19=,52561;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0346;AN=6;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.08;CAF_dbsnp_common_v150_hg19_refseq=,0.9523|0.04772;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C0008780|Orphanet:ORPHA244|MedGen:CN169374|MedGen:CN230736;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Primary_ciliary_dyskinesia|not_specified|Cardiovascular_phenotype;CLNHGVS_clinvar_20171029_hg19=,NC_000019.9:g.55665410C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000363.4:c.537G>A|_NM_001126132.2:c.-4893G>A|_NM_001126133.2:c.-4893G>A|_NM_001291774.1:c.-4988G>A|_NM_003283.5:c.-4893G>A;Coding_region_change_in_longest_transcript=,NM_000363.4:c.537G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0565;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0626;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,41;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TNNI3:7137;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7137;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7137;Genotype=,T/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:11947;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:11947;Homo_sapiens_refseq_GRCh37.p13_Genes=,TNNI3;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_000363.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene37048;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna54673;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:191044;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:191044;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene37048;QUAL=,159.54589770191004;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,55665410;RS_dbsnp_common_v150_hg19_refseq=,3729841;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,65;Read_coverage=,65;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_000363.4;Reverse_read_coverage=,24;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0930;SF=4,19,21,26,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.953359|0.046641;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050368000305150537100100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.0306122;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.116667;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.0609756;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.0764706;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.0965909;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0333333;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0174419;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.05;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.0795455;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.99;db_xref=,GeneID:7137|HGNC:HGNC:11947|MIM:191044;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_000363.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,troponin_I3|_cardiac_type;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TNNI3;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TNNI3;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1FF|CMD2A|CMH7|cTnI|RCM1|TNNC1;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,troponin_I3|_cardiac_type;transcript_id=,NM_000363.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TNNI3;GeneDetail.refGene=.;ExonicFunc.refGene=unknown;AAChange.refGene=UNKNOWN;cytoBand=19q13.42;genomicSuperDups=.;esp6500siv2_all=0.0485;esp6500siv2_ea=0.0658;esp6500siv2_all=0.0485;esp6500siv2_ea=0.0658;1000g2015aug_all=0.0477236;avsnp147=rs3729841;Kaviar_AF=0.0637314;Kaviar_AC=9853;Kaviar_AN=154602;ExAC_ALL=0.0660;ExAC_AFR=0.0124;ExAC_AMR=0.0333;ExAC_EAS=0.0448;ExAC_FIN=0.0631;ExAC_NFE=0.0718;ExAC_OTH=0.0944;ExAC_SAS=0.1065;CLNALLELEID=52561;CLNDN=Hypertrophic_cardiomyopathy|Ciliary_dyskinesia|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.2164;dpsi_zscore=0.754;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0653;gnomAD_exome_AFR=0.0113;gnomAD_exome_AMR=0.0359;gnomAD_exome_ASJ=0.0966;gnomAD_exome_EAS=0.0454;gnomAD_exome_FIN=0.0583;gnomAD_exome_NFE=0.0710;gnomAD_exome_OTH=0.0845;gnomAD_exome_SAS=0.1061;gnomAD_genome_ALL=0.0484;gnomAD_genome_AFR=0.0125;gnomAD_genome_AMR=0.0418;gnomAD_genome_ASJ=0.0828;gnomAD_genome_EAS=0.0469;gnomAD_genome_FIN=0.0600;gnomAD_genome_NFE=0.0649;gnomAD_genome_OTH=0.0738;Whole_Blood=Whole_Blood::0.0501355::0.686074;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . 1/1:59:0,59 . . . . . . . . . . . . . . 1:84:0,47 . 1:118:0,44 . . . . 1:99:0,43 . . . . . . . . . . . . . . 1:72:0,28 19 55667647 43366;rs3729711 C A 200.00 . #_unique_end_positions=,54;#_unique_start_positions=,66;AC=4;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0023;AF_ESP_clinvar_20171029_hg19=,0.0368;AF_EXAC_clinvar_20171029_hg19=,0.04615;AF_TGP_clinvar_20171029_hg19=,0.0228;ALLELEID_clinvar_20171029_hg19=,52536;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0274;AN=4;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.08;CAF_dbsnp_common_v150_hg19_refseq=,0.9772|0.02276;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C0008780|Orphanet:ORPHA244|MedGen:CN169374|MedGen:CN230736;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Primary_ciliary_dyskinesia|not_specified|Cardiovascular_phenotype;CLNHGVS_clinvar_20171029_hg19=,NC_000019.9:g.55667647C>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:23827;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000363.4:c.204G>T;Coding_region_change_in_longest_transcript=,NM_000363.4:c.204G>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0696;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,122;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TNNI3:7137;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:7137;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:7137;Genotype=,A/C;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:11947;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:11947;Homo_sapiens_refseq_GRCh37.p13_Genes=,TNNI3;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_000363.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene37048;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna54673;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:191044;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:191044;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene37048;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,55667647;RS_dbsnp_common_v150_hg19_refseq=,3729711;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,152;Read_coverage=,315;Read_direction_test_probability=,0.9749008632377177;Read_position_test_probability=,0.972585123941925;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_000363.4;Reverse_read_coverage=,193;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0215;SF=8,18,24,29;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.964487|0.0355131;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05032800030515053f000101;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.0752212;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.0284091;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.02;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.0034965;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.0965909;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.00442478;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:7137|HGNC:HGNC:11947|MIM:191044;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_000363.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,troponin_I3|_cardiac_type;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TNNI3;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TNNI3;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMD1FF|CMD2A|CMH7|cTnI|RCM1|TNNC1;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,troponin_I3|_cardiac_type;transcript_id=,NM_000363.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TNNI3;GeneDetail.refGene=.;ExonicFunc.refGene=unknown;AAChange.refGene=UNKNOWN;cytoBand=19q13.42;genomicSuperDups=.;esp6500siv2_all=0.0368;esp6500siv2_ea=0.0505;esp6500siv2_all=0.0368;esp6500siv2_ea=0.0505;1000g2015aug_all=0.0227636;avsnp147=rs3729711;Kaviar_AF=3.88e-05;Kaviar_AC=6;Kaviar_AN=154602;ExAC_ALL=0.0461;ExAC_AFR=0.0086;ExAC_AMR=0.0151;ExAC_EAS=0;ExAC_FIN=0.0951;ExAC_NFE=0.0649;ExAC_OTH=0.0406;ExAC_SAS=0.0236;CLNALLELEID=52536;CLNDN=Hypertrophic_cardiomyopathy|Ciliary_dyskinesia|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=2.843;CADD_phred=21.6;DANN_score=0.934;fathmm-MKL_coding_score=0.656;fathmm-MKL_coding_pred=D;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=0.726;integrated_confidence_value=0;GERP++_RS=2.15;phyloP7way_vertebrate=0.008;phyloP20way_mammalian=0.024;phastCons7way_vertebrate=0.986;phastCons20way_mammalian=0.993;SiPhy_29way_logOdds=3.418;GDI_full_10282015=.;dpsi_max_tissue=0.4293;dpsi_zscore=1.056;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0408;gnomAD_exome_AFR=0.0069;gnomAD_exome_AMR=0.0160;gnomAD_exome_ASJ=0.0440;gnomAD_exome_EAS=5.94e-05;gnomAD_exome_FIN=0.0803;gnomAD_exome_NFE=0.0567;gnomAD_exome_OTH=0.0438;gnomAD_exome_SAS=0.0214;gnomAD_genome_ALL=0.0416;gnomAD_genome_AFR=0.0098;gnomAD_genome_AMR=0.0310;gnomAD_genome_ASJ=0.0265;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0877;gnomAD_genome_NFE=0.0546;gnomAD_genome_OTH=0.0439;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . 1:271:0,131 . . . . . . . . . 1:223:0,93 . . . . . 1:312:0,152 . . . . 1:300:0,145 . . . . . . . . . . . . 20 30408306 36652;rs34396614 C G 200.00 . #_unique_end_positions=,60;#_unique_start_positions=,63;AC=5;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0158;AF_EXAC_clinvar_20171029_hg19=,0.01338;AF_TGP_clinvar_20171029_hg19=,0.0084;ALLELEID_clinvar_20171029_hg19=,45314;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0202;AN=5;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_149109.1:p.Pro144Ala;Amino_acid_change_in_longest_transcript=,NP_149109.1:p.Pro144Ala;BaseQRankSum=,-0.17;CAF_dbsnp_common_v150_hg19_refseq=,0.9916|0.008387|.;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C0878544|Orphanet:ORPHA167848|SNOMED_CT:85898001|MedGen:C3495498|OMIM:192600|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000020.10:g.30408306C>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_conflicting_interpretations;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:76043|UniProtKB_(protein):Q9H1R3#VAR_040862;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_033118.3:c.430C>G;Coding_region_change_in_longest_transcript=,NM_033118.3:c.430C>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0278;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,66;GENEINFO_dbsnp_common_v150_hg19_refseq=,MYLK2:85366;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:85366;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:85366;Genotype=,C/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:16243;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:16243;Homo_sapiens_refseq_GRCh37.p13_Genes=,MYLK2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_033118.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene37641;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna55654;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:606566;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:606566;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene37641;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,30408306;RS_dbsnp_common_v150_hg19_refseq=,34396614;Read_count=,111;Read_coverage=,245;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.6125435153321341;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_033118.3;Reverse_read_coverage=,179;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=6,11,16,34,37;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.984649|0.0153513|.;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050168000a05040536100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.141;db_xref=,GeneID:85366|HGNC:HGNC:16243|MIM:606566;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:05953;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_033118.3|HPRD:05953;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,myosin_light_chain_kinase_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MYLK2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MYLK2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,KMLC|MLCK|MLCK2|skMLCK;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,myosin_light_chain_kinase_2;transcript_id=,NM_033118.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYLK2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYLK2:NM_033118:exon3:c.C430G:p.P144A;cytoBand=20q11.21;genomicSuperDups=.;esp6500siv2_all=0.0158;esp6500siv2_ea=0.0202;esp6500siv2_all=0.0158;esp6500siv2_ea=0.0202;1000g2015aug_all=0.00838658;avsnp147=rs34396614;Kaviar_AF=0.0137838;Kaviar_AC=2131;Kaviar_AN=154602;ExAC_ALL=0.0134;ExAC_AFR=0.0041;ExAC_AMR=0.0175;ExAC_EAS=0;ExAC_FIN=0.0077;ExAC_NFE=0.0194;ExAC_OTH=0.0150;ExAC_SAS=0.0017;CLNALLELEID=45314;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3495498,OMIM:192600|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.994;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=N;MutationAssessor_score=1.1;MutationAssessor_pred=L;FATHMM_score=-0.32;FATHMM_pred=T;PROVEAN_score=-1.77;PROVEAN_pred=N;VEST3_score=0.093;CADD_raw=4.119;CADD_phred=23.8;DANN_score=0.992;fathmm-MKL_coding_score=0.051;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.876;MetaSVM_pred=T;MetaLR_score=0.153;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=3.72;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.852;phastCons7way_vertebrate=0.312;phastCons20way_mammalian=0.943;SiPhy_29way_logOdds=9.771;GDI_full_10282015=.;dpsi_max_tissue=-0.2317;dpsi_zscore=-0.745;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0140;gnomAD_exome_AFR=0.0036;gnomAD_exome_AMR=0.0187;gnomAD_exome_ASJ=0.0032;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0082;gnomAD_exome_NFE=0.0212;gnomAD_exome_OTH=0.0196;gnomAD_exome_SAS=0.0016;gnomAD_genome_ALL=0.0125;gnomAD_genome_AFR=0.0044;gnomAD_genome_AMR=0.0131;gnomAD_genome_ASJ=0.0099;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0054;gnomAD_genome_NFE=0.0203;gnomAD_genome_OTH=0.0112;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . 1:223:0,102 . . . . 1:227:0,99 . . . . 1:256:0,111 . . . . . . . . . . . . . . . . . 1:243:0,109 . . 1:175:0,69 . . . . 20 30409452 46528;rs6058469 T C 190.15 . #_unique_end_positions=,42;#_unique_start_positions=,38;AC=10;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1490;AF_ESP_clinvar_20171029_hg19=,0.1009;AF_EXAC_clinvar_20171029_hg19=,0.06785;AF_TGP_clinvar_20171029_hg19=,0.0721;ALLELEID_clinvar_20171029_hg19=,55693;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0836;AN=10;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.02;CAF_dbsnp_common_v150_hg19_refseq=,0.9279|0.07208;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000020.10:g.30409452T>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:54551;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_033118.3:c.684T>C;Coding_region_change_in_longest_transcript=,NM_033118.3:c.684T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0815;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,57;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,MYLK2:85366;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:85366;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:85366;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:16243;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:16243;Homo_sapiens_refseq_GRCh37.p13_Genes=,MYLK2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_033118.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene37641;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna55654;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:606566;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:606566;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene37641;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,30409452;RS_dbsnp_common_v150_hg19_refseq=,6058469;Read_count=,74;Read_coverage=,139;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9909369821433259;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_033118.3;Reverse_read_coverage=,82;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0235;SF=0,5,8,9,12,14,29,31,35;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.898654|0.101346;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128000305150536000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.711;db_xref=,GeneID:85366|HGNC:HGNC:16243|MIM:606566;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:05953;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_033118.3|HPRD:05953;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,myosin_light_chain_kinase_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MYLK2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MYLK2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,KMLC|MLCK|MLCK2|skMLCK;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,myosin_light_chain_kinase_2;transcript_id=,NM_033118.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYLK2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYLK2:NM_033118:exon4:c.T684C:p.I228I;cytoBand=20q11.21;genomicSuperDups=.;esp6500siv2_all=0.1009;esp6500siv2_ea=0.0802;esp6500siv2_all=0.1009;esp6500siv2_ea=0.0802;1000g2015aug_all=0.0720847;avsnp147=rs6058469;Kaviar_AF=0.0680134;Kaviar_AC=10515;Kaviar_AN=154602;ExAC_ALL=0.0678;ExAC_AFR=0.1439;ExAC_AMR=0.0442;ExAC_EAS=0.0005;ExAC_FIN=0.0736;ExAC_NFE=0.0791;ExAC_OTH=0.0843;ExAC_SAS=0.0236;CLNALLELEID=55693;CLNDN=Hypertrophic_cardiomyopathy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.2077;dpsi_zscore=0.738;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0650;gnomAD_exome_AFR=0.1405;gnomAD_exome_AMR=0.0456;gnomAD_exome_ASJ=0.0819;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0.0708;gnomAD_exome_NFE=0.0781;gnomAD_exome_OTH=0.0777;gnomAD_exome_SAS=0.0256;gnomAD_genome_ALL=0.0805;gnomAD_genome_AFR=0.1317;gnomAD_genome_AMR=0.0477;gnomAD_genome_ASJ=0.0596;gnomAD_genome_EAS=0.0012;gnomAD_genome_FIN=0.0696;gnomAD_genome_NFE=0.0654;gnomAD_genome_OTH=0.0602;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:123:0,65 . . . . 1:128:0,68 . . 1:97:0,61 1:119:0,50 . . 1:136:0,73 . 1:168:0,102 . . . . . . . . . . . . . . 1:132:0,67 . 1:65:0,25 . . . 1/1:109:0,109 . . . . . . 20 30411298 164504;rs142620954 C T 200.00 . #_unique_end_positions=,40;#_unique_start_positions=,30;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0002;AF_EXAC_clinvar_20171029_hg19=,0.00119;AF_TGP_clinvar_20171029_hg19=,0.0006;ALLELEID_clinvar_20171029_hg19=,176229;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_149109.1:p.Pro264Leu;Amino_acid_change_in_longest_transcript=,NP_149109.1:p.Pro264Leu;BaseQRankSum=,-0.17;CAF_dbsnp_common_v150_hg19_refseq=,0.9994|0.000599;CLNDISDB_clinvar_20171029_hg19=,MedGen:C3495498|OMIM:192600|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Familial_hypertrophic_cardiomyopathy_1|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000020.10:g.30411298C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_conflicting_interpretations;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_033118.3:c.791C>T;Coding_region_change_in_longest_transcript=,NM_033118.3:c.791C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0030;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,105;GENEINFO_dbsnp_common_v150_hg19_refseq=,MYLK2:85366;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:85366;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:85366;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:16243;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:16243;Homo_sapiens_refseq_GRCh37.p13_Genes=,MYLK2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_033118.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene37641;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna55654;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:606566;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:606566;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene37641;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,30411298;RS_dbsnp_common_v150_hg19_refseq=,142620954;Read_count=,61;Read_coverage=,148;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9989289664302857;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_033118.3;Reverse_read_coverage=,43;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=29;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.999897|0.000103029;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050028000a05040436000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.933;db_xref=,GeneID:85366|HGNC:HGNC:16243|MIM:606566;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:05953;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_033118.3|HPRD:05953;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,myosin_light_chain_kinase_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MYLK2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MYLK2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,KMLC|MLCK|MLCK2|skMLCK;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,myosin_light_chain_kinase_2;transcript_id=,NM_033118.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYLK2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYLK2:NM_033118:exon5:c.C791T:p.P264L;cytoBand=20q11.21;genomicSuperDups=.;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0002;1000g2015aug_all=0.000599042;avsnp147=rs142620954;Kaviar_AF=0.0009508;Kaviar_AC=147;Kaviar_AN=154602;ExAC_ALL=0.0012;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0.0146;ExAC_NFE=0.0007;ExAC_OTH=0.0033;ExAC_SAS=0;CLNALLELEID=176229;CLNDN=Familial_hypertrophic_cardiomyopathy_1|not_specified;CLNDISDB=MedGen:C3495498,OMIM:192600|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.007;SIFT_pred=D;Polyphen2_HDIV_score=0.973;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.435;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=2.33;MutationAssessor_pred=M;FATHMM_score=-0.48;FATHMM_pred=T;PROVEAN_score=-7.73;PROVEAN_pred=D;VEST3_score=0.222;CADD_raw=6.299;CADD_phred=29.1;DANN_score=0.987;fathmm-MKL_coding_score=0.791;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.210;MetaSVM_pred=T;MetaLR_score=0.339;MetaLR_pred=T;integrated_fitCons_score=0.616;integrated_confidence_value=0;GERP++_RS=3.77;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.834;phastCons7way_vertebrate=0.983;phastCons20way_mammalian=0.852;SiPhy_29way_logOdds=14.338;GDI_full_10282015=.;dpsi_max_tissue=0.0834;dpsi_zscore=0.430;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0016;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0155;gnomAD_exome_NFE=0.0004;gnomAD_exome_OTH=0.0027;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0034;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0146;gnomAD_genome_NFE=0.0032;gnomAD_genome_OTH=0.0071;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:126:0,55 . . . . . . . . . . . . 20 30414503 46517;rs17340492 C T 200.00 . #_unique_end_positions=,47;#_unique_start_positions=,39;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0142;AF_EXAC_clinvar_20171029_hg19=,0.01074;AF_TGP_clinvar_20171029_hg19=,0.0050;ALLELEID_clinvar_20171029_hg19=,55682;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0072;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.85;CAF_dbsnp_common_v150_hg19_refseq=,0.995|0.004992;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C3495498|OMIM:192600|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000020.10:g.30414503C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_conflicting_interpretations;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:54586;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_033118.3:c.1068C>T;Coding_region_change_in_longest_transcript=,NM_033118.3:c.1068C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0189;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,77;GENEINFO_dbsnp_common_v150_hg19_refseq=,MYLK2:85366;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:85366;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:85366;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:16243;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:16243;Homo_sapiens_refseq_GRCh37.p13_Genes=,MYLK2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_033118.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene37641;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna55654;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:606566;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:606566;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene37641;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,30414503;RS_dbsnp_common_v150_hg19_refseq=,17340492;Read_count=,65;Read_coverage=,153;Read_direction_test_probability=,0.9999899302779939;Read_position_test_probability=,0.9989543362627166;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_033118.3;Reverse_read_coverage=,76;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;SF=16;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.9898|0.0101999;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05032800030504053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.995;db_xref=,GeneID:85366|HGNC:HGNC:16243|MIM:606566;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:05953;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_033118.3|HPRD:05953;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,myosin_light_chain_kinase_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MYLK2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MYLK2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,KMLC|MLCK|MLCK2|skMLCK;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,myosin_light_chain_kinase_2;transcript_id=,NM_033118.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYLK2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYLK2:NM_033118:exon7:c.C1068T:p.V356V;cytoBand=20q11.21;genomicSuperDups=.;esp6500siv2_all=0.0141;esp6500siv2_ea=0.0185;esp6500siv2_all=0.0141;esp6500siv2_ea=0.0185;1000g2015aug_all=0.00499201;avsnp147=rs17340492;Kaviar_AF=0.0106661;Kaviar_AC=1649;Kaviar_AN=154602;ExAC_ALL=0.0107;ExAC_AFR=0.0035;ExAC_AMR=0.0056;ExAC_EAS=0;ExAC_FIN=0.0206;ExAC_NFE=0.0157;ExAC_OTH=0.0110;ExAC_SAS=0.0005;CLNALLELEID=55682;CLNDN=Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3495498,OMIM:192600|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.0964;dpsi_zscore=-0.438;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0115;gnomAD_exome_AFR=0.0025;gnomAD_exome_AMR=0.0074;gnomAD_exome_ASJ=0.0136;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0228;gnomAD_exome_NFE=0.0163;gnomAD_exome_OTH=0.0129;gnomAD_exome_SAS=0.0003;gnomAD_genome_ALL=0.0109;gnomAD_genome_AFR=0.0040;gnomAD_genome_AMR=0.0107;gnomAD_genome_ASJ=0.0099;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0232;gnomAD_genome_NFE=0.0132;gnomAD_genome_OTH=0.0102;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . 1:137:0,59 . . . . . . . . . . . . . . . . . . . . . . . . . 20 30414528 36649;rs76530988 G A 200.00 . #_unique_end_positions=,57;#_unique_start_positions=,52;AC=3;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0030;AF_ESP_clinvar_20171029_hg19=,0.0205;AF_EXAC_clinvar_20171029_hg19=,0.02061;AF_TGP_clinvar_20171029_hg19=,0.0096;ALLELEID_clinvar_20171029_hg19=,45311;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0202;AN=3;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.02;CAF_dbsnp_common_v150_hg19_refseq=,0.9904|0.009585;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C0878544|Orphanet:ORPHA167848|SNOMED_CT:85898001|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Cardiomyopathy|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000020.10:g.30414528G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:29083;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_033118.3:c.1082+11G>A;Coding_region_change_in_longest_transcript=,NM_033118.3:c.1082+11G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0298;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,143;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,MYLK2:85366;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:85366;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:16243;Homo_sapiens_refseq_GRCh37.p13_Genes=,MYLK2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene37641;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001627|intron_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:606566;Non-synonymous=,-;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;QUAL=,200.0;RSPOS_dbsnp_common_v150_hg19_refseq=,30414528;RS_dbsnp_common_v150_hg19_refseq=,76530988;Read_count=,98;Read_coverage=,236;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.828190469802581;Reverse_read_coverage=,93;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=23,24,38;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.986572|0.0134281;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050068080005050436100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.0;db_xref=,GeneID:85366|HGNC:HGNC:16243|MIM:606566;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:05953;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,myosin_light_chain_kinase_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MYLK2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,KMLC|MLCK|MLCK2|skMLCK;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYLK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=20q11.21;genomicSuperDups=.;esp6500siv2_all=0.0205;esp6500siv2_ea=0.0265;esp6500siv2_all=0.0205;esp6500siv2_ea=0.0265;1000g2015aug_all=0.00958466;avsnp147=rs76530988;Kaviar_AF=0.0202779;Kaviar_AC=3135;Kaviar_AN=154602;ExAC_ALL=0.0206;ExAC_AFR=0.0062;ExAC_AMR=0.0113;ExAC_EAS=0.0001;ExAC_FIN=0.0393;ExAC_NFE=0.0300;ExAC_OTH=0.0199;ExAC_SAS=0.0018;CLNALLELEID=45311;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1748;dpsi_zscore=0.672;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0204;gnomAD_exome_AFR=0.0052;gnomAD_exome_AMR=0.0111;gnomAD_exome_ASJ=0.0375;gnomAD_exome_EAS=5.798e-05;gnomAD_exome_FIN=0.0403;gnomAD_exome_NFE=0.0281;gnomAD_exome_OTH=0.0212;gnomAD_exome_SAS=0.0019;gnomAD_genome_ALL=0.0203;gnomAD_genome_AFR=0.0056;gnomAD_genome_AMR=0.0275;gnomAD_genome_ASJ=0.0430;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0399;gnomAD_genome_NFE=0.0257;gnomAD_genome_OTH=0.0173;Whole_Blood=Whole_Blood::0.0271003::0.447299;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . 1:216:0,90 1:219:0,114 . . . . . . . . . . . . . 1:138:0,74 . . . 20 30414560 rs41293108 C G 200.00 . #_unique_end_positions=,57;#_unique_start_positions=,54;AC=10;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1490;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0836;AN=10;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.13;CAF_dbsnp_common_v150_hg19_refseq=,0.9279|0.07208;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_033118.3:c.1083-40C>G;Coding_region_change_in_longest_transcript=,NM_033118.3:c.1083-40C>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0815;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,86;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,MYLK2:85366;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:85366;Genotype=,C/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:16243;Homo_sapiens_refseq_GRCh37.p13_Genes=,MYLK2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene37641;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:606566;Non-synonymous=,-;Other_variants_within_codon=,No;QUAL=,200.0;RSPOS_dbsnp_common_v150_hg19_refseq=,30414560;RS_dbsnp_common_v150_hg19_refseq=,41293108;Read_count=,89;Read_coverage=,170;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.992362189113559;Reverse_read_coverage=,84;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0235;SF=0,5,8,9,12,14,29,31,35;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.898654|0.101346;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050100080005150536000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.0;db_xref=,GeneID:85366|HGNC:HGNC:16243|MIM:606566;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:05953;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,myosin_light_chain_kinase_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MYLK2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,KMLC|MLCK|MLCK2|skMLCK;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYLK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=20q11.21;genomicSuperDups=.;esp6500siv2_all=0.1006;esp6500siv2_ea=0.08;esp6500siv2_all=0.1006;esp6500siv2_ea=0.08;1000g2015aug_all=0.0720847;avsnp147=rs41293108;Kaviar_AF=0.0672824;Kaviar_AC=10402;Kaviar_AN=154602;ExAC_ALL=0.0677;ExAC_AFR=0.1433;ExAC_AMR=0.0443;ExAC_EAS=0.0005;ExAC_FIN=0.0739;ExAC_NFE=0.0789;ExAC_OTH=0.0833;ExAC_SAS=0.0236;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1813;dpsi_zscore=0.686;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0650;gnomAD_exome_AFR=0.1403;gnomAD_exome_AMR=0.0456;gnomAD_exome_ASJ=0.0820;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0.0707;gnomAD_exome_NFE=0.0782;gnomAD_exome_OTH=0.0779;gnomAD_exome_SAS=0.0256;gnomAD_genome_ALL=0.0805;gnomAD_genome_AFR=0.1317;gnomAD_genome_AMR=0.0477;gnomAD_genome_ASJ=0.0596;gnomAD_genome_EAS=0.0012;gnomAD_genome_FIN=0.0699;gnomAD_genome_NFE=0.0654;gnomAD_genome_OTH=0.0601;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:153:0,83 . . . . 1:272:0,116 . . 1:178:0,79 1:171:0,82 . . 1:220:0,108 . 1:282:0,125 . . . . . . . . . . . . . . 1:224:0,118 . 1:145:0,73 . . . 1/1:177:0,177 . . . . . . 20 30414560 rs41293108 C G 200.00 . #_unique_end_positions=,57;#_unique_start_positions=,54;AC=10;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1490;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0836;AN=10;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.13;CAF_dbsnp_common_v150_hg19_refseq=,0.9279|0.07208;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_033118.3:c.1083-40C>G;Coding_region_change_in_longest_transcript=,NM_033118.3:c.1083-40C>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0010;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0815;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,86;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,MYLK2:85366;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:85366;Genotype=,C/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:16243;Homo_sapiens_refseq_GRCh37.p13_Genes=,MYLK2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene37641;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:606566;Non-synonymous=,-;Other_variants_within_codon=,No;QUAL=,200.0;RSPOS_dbsnp_common_v150_hg19_refseq=,30414560;RS_dbsnp_common_v150_hg19_refseq=,41293108;Read_count=,89;Read_coverage=,170;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.992362189113559;Reverse_read_coverage=,84;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0235;SF=0,5,8,9,12,14,29,31,35;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.898654|0.101346;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050100080005150536000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.0;db_xref=,GeneID:85366|HGNC:HGNC:16243|MIM:606566;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:05953;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,myosin_light_chain_kinase_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MYLK2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,KMLC|MLCK|MLCK2|skMLCK;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYLK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=20q11.21;genomicSuperDups=.;esp6500siv2_all=0.1006;esp6500siv2_ea=0.08;esp6500siv2_all=0.1006;esp6500siv2_ea=0.08;1000g2015aug_all=0.0720847;avsnp147=rs41293108;Kaviar_AF=0.0672824;Kaviar_AC=10402;Kaviar_AN=154602;ExAC_ALL=0.0677;ExAC_AFR=0.1433;ExAC_AMR=0.0443;ExAC_EAS=0.0005;ExAC_FIN=0.0739;ExAC_NFE=0.0789;ExAC_OTH=0.0833;ExAC_SAS=0.0236;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1813;dpsi_zscore=0.686;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0650;gnomAD_exome_AFR=0.1403;gnomAD_exome_AMR=0.0456;gnomAD_exome_ASJ=0.0820;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0.0707;gnomAD_exome_NFE=0.0782;gnomAD_exome_OTH=0.0779;gnomAD_exome_SAS=0.0256;gnomAD_genome_ALL=0.0805;gnomAD_genome_AFR=0.1317;gnomAD_genome_AMR=0.0477;gnomAD_genome_ASJ=0.0596;gnomAD_genome_EAS=0.0012;gnomAD_genome_FIN=0.0699;gnomAD_genome_NFE=0.0654;gnomAD_genome_OTH=0.0601;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:153:0,83 . . . . 1:272:0,116 . . 1:178:0,79 1:171:0,82 . . 1:220:0,108 . 1:282:0,125 . . . . . . . . . . . . . . 1:224:0,118 . 1:145:0,73 . . . 1/1:177:0,177 . . . . . . 20 30414578 rs11699351 G A 200.00 . #_unique_end_positions=,57;#_unique_start_positions=,48;AC=4;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0030;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0303;AN=4;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.28;CAF_dbsnp_common_v150_hg19_refseq=,0.9798|0.02017;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_033118.3:c.1083-22G>A;Coding_region_change_in_longest_transcript=,NM_033118.3:c.1083-22G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0497;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,89;GENEINFO_dbsnp_common_v150_hg19_refseq=,MYLK2:85366;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:85366;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:16243;Homo_sapiens_refseq_GRCh37.p13_Genes=,MYLK2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene37641;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:606566;Non-synonymous=,-;Other_variants_within_codon=,No;QUAL=,200.0;RSPOS_dbsnp_common_v150_hg19_refseq=,30414578;RS_dbsnp_common_v150_hg19_refseq=,11699351;Read_count=,90;Read_coverage=,206;Read_direction_test_probability=,0.9911017523527134;Read_position_test_probability=,0.8363158621588788;Reverse_read_coverage=,117;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0266;SF=3,15,19,32;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.976372|0.023628;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050100080005140536000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.126;db_xref=,GeneID:85366|HGNC:HGNC:16243|MIM:606566;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:05953;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,myosin_light_chain_kinase_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MYLK2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,KMLC|MLCK|MLCK2|skMLCK;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYLK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=20q11.21;genomicSuperDups=.;esp6500siv2_all=0.0341;esp6500siv2_ea=0.0469;esp6500siv2_all=0.0341;esp6500siv2_ea=0.0469;1000g2015aug_all=0.0201677;avsnp147=rs11699351;Kaviar_AF=0.0336218;Kaviar_AC=5198;Kaviar_AN=154602;ExAC_ALL=0.0331;ExAC_AFR=0.0068;ExAC_AMR=0.0207;ExAC_EAS=0;ExAC_FIN=0.0436;ExAC_NFE=0.0432;ExAC_OTH=0.0332;ExAC_SAS=0.0308;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1904;dpsi_zscore=-0.668;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0334;gnomAD_exome_AFR=0.0062;gnomAD_exome_AMR=0.0207;gnomAD_exome_ASJ=0.0301;gnomAD_exome_EAS=5.8e-05;gnomAD_exome_FIN=0.0423;gnomAD_exome_NFE=0.0444;gnomAD_exome_OTH=0.0451;gnomAD_exome_SAS=0.0320;gnomAD_genome_ALL=0.0282;gnomAD_genome_AFR=0.0068;gnomAD_genome_AMR=0.0191;gnomAD_genome_ASJ=0.0464;gnomAD_genome_EAS=0.0012;gnomAD_genome_FIN=0.0427;gnomAD_genome_NFE=0.0400;gnomAD_genome_OTH=0.0357;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . 1:192:0,84 . . . . . . . . . . . 1:227:0,103 . . . 1:190:0,90 . . . . . . . . . . . . 1:218:0,98 . . . . . . . . . 20 30414578 rs11699351 G A 200.00 . #_unique_end_positions=,57;#_unique_start_positions=,48;AC=4;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0030;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0303;AN=4;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.28;CAF_dbsnp_common_v150_hg19_refseq=,0.9798|0.02017;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_033118.3:c.1083-22G>A;Coding_region_change_in_longest_transcript=,NM_033118.3:c.1083-22G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0497;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,89;GENEINFO_dbsnp_common_v150_hg19_refseq=,MYLK2:85366;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:85366;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:16243;Homo_sapiens_refseq_GRCh37.p13_Genes=,MYLK2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene37641;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:606566;Non-synonymous=,-;Other_variants_within_codon=,No;QUAL=,200.0;RSPOS_dbsnp_common_v150_hg19_refseq=,30414578;RS_dbsnp_common_v150_hg19_refseq=,11699351;Read_count=,90;Read_coverage=,206;Read_direction_test_probability=,0.9911017523527134;Read_position_test_probability=,0.8363158621588788;Reverse_read_coverage=,117;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0266;SF=3,15,19,32;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.976372|0.023628;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050100080005140536000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.126;db_xref=,GeneID:85366|HGNC:HGNC:16243|MIM:606566;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:05953;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,myosin_light_chain_kinase_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MYLK2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,KMLC|MLCK|MLCK2|skMLCK;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYLK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=20q11.21;genomicSuperDups=.;esp6500siv2_all=0.0341;esp6500siv2_ea=0.0469;esp6500siv2_all=0.0341;esp6500siv2_ea=0.0469;1000g2015aug_all=0.0201677;avsnp147=rs11699351;Kaviar_AF=0.0336218;Kaviar_AC=5198;Kaviar_AN=154602;ExAC_ALL=0.0331;ExAC_AFR=0.0068;ExAC_AMR=0.0207;ExAC_EAS=0;ExAC_FIN=0.0436;ExAC_NFE=0.0432;ExAC_OTH=0.0332;ExAC_SAS=0.0308;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.1904;dpsi_zscore=-0.668;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0334;gnomAD_exome_AFR=0.0062;gnomAD_exome_AMR=0.0207;gnomAD_exome_ASJ=0.0301;gnomAD_exome_EAS=5.8e-05;gnomAD_exome_FIN=0.0423;gnomAD_exome_NFE=0.0444;gnomAD_exome_OTH=0.0451;gnomAD_exome_SAS=0.0320;gnomAD_genome_ALL=0.0282;gnomAD_genome_AFR=0.0068;gnomAD_genome_AMR=0.0191;gnomAD_genome_ASJ=0.0464;gnomAD_genome_EAS=0.0012;gnomAD_genome_FIN=0.0427;gnomAD_genome_NFE=0.0400;gnomAD_genome_OTH=0.0357;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . 1:192:0,84 . . . . . . . . . . . 1:227:0,103 . . . 1:190:0,90 . . . . . . . . . . . . 1:218:0,98 . . . . . . . . . 20 42743454 137611;rs6093935 A G 159.41 . #_unique_end_positions=,16;#_unique_start_positions=,14;AC=14;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4690;AF_ESP_clinvar_20171029_hg19=,0.3544;AF_EXAC_clinvar_20171029_hg19=,0.31197;AF_TGP_clinvar_20171029_hg19=,0.2574;ALLELEID_clinvar_20171029_hg19=,141314;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2190;AN=14;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.7426|0.2574;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374|MedGen:CN230736;CLNDN_clinvar_20171029_hg19=,not_specified|Cardiovascular_phenotype;CLNHGVS_clinvar_20171029_hg19=,NC_000020.10:g.42743454A>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_020433.4:c.2073T>C;Coding_region_change_in_longest_transcript=,NM_020433.4:c.2073T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1101;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3101;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,15;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,JPH2:57158;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:57158;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:57158;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:14202;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:14202;Homo_sapiens_refseq_GRCh37.p13_Genes=,JPH2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_020433.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene37868;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna56011;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:605267;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:605267;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene37868;QUAL=,132.27048513162447;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,42743454;RS_dbsnp_common_v150_hg19_refseq=,6093935;Read_count=,19;Read_coverage=,36;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.6577579982681618;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_020433.4;Reverse_read_coverage=,21;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0961;SF=4,5,9,10,15,23,25,27,28,30,31,38,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.635243|0.364757;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05016800030515053f100100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.479592;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.305085;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.097561;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.105882;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.0909091;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.111111;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0333333;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.422222;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.2;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.440141;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.255682;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.458333;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.996;db_xref=,GeneID:57158|HGNC:HGNC:14202|MIM:605267;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_020433.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,junctophilin_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,JPH2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,JPH2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMH17|JP-2|JP2;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,junctophilin_2|_transcript_variant_1;transcript_id=,NM_020433.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=JPH2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=JPH2:NM_020433:exon5:c.T2073C:p.F691F;cytoBand=20q13.12;genomicSuperDups=.;esp6500siv2_all=0.3544;esp6500siv2_ea=0.3065;esp6500siv2_all=0.3544;esp6500siv2_ea=0.3065;1000g2015aug_all=0.257388;avsnp147=rs6093935;Kaviar_AF=0.247313;Kaviar_AC=38235;Kaviar_AN=154602;ExAC_ALL=0.3120;ExAC_AFR=0.4795;ExAC_AMR=0.2489;ExAC_EAS=0.1095;ExAC_FIN=0.3875;ExAC_NFE=0.3485;ExAC_OTH=0.2893;ExAC_SAS=0.1401;CLNALLELEID=141314;CLNDN=Familial_hypertrophic_cardiomyopathy_17|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C3151264,OMIM:613873|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=1.8819;dpsi_zscore=1.930;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2472;gnomAD_exome_AFR=0.4470;gnomAD_exome_AMR=0.1486;gnomAD_exome_ASJ=0.3223;gnomAD_exome_EAS=0.0872;gnomAD_exome_FIN=0.2801;gnomAD_exome_NFE=0.2967;gnomAD_exome_OTH=0.2716;gnomAD_exome_SAS=0.1199;gnomAD_genome_ALL=0.3289;gnomAD_genome_AFR=0.4602;gnomAD_genome_AMR=0.1579;gnomAD_genome_ASJ=0.3477;gnomAD_genome_EAS=0.0858;gnomAD_genome_FIN=0.2740;gnomAD_genome_NFE=0.3031;gnomAD_genome_OTH=0.2955;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . 1:34:0,17 1:72:0,32 . . . 1:54:0,24 1:78:0,50 . . . . 1:57:0,39 . . . . . . . 1:71:0,30 . 1:40:0,16 . 1:73:0,39 1:62:0,29 . 1:51:0,28 1:36:0,13 . . . . . . 1:60:0,31 . 1:51:0,28 1:45:0,30 20 42744587 137609;rs74352869 G C 200.00 . #_unique_end_positions=,44;#_unique_start_positions=,33;AC=11;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2345;AF_ESP_clinvar_20171029_hg19=,0.1883;AF_EXAC_clinvar_20171029_hg19=,0.21320;AF_TGP_clinvar_20171029_hg19=,0.1530;ALLELEID_clinvar_20171029_hg19=,141312;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1254;AN=11;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.847|0.153;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374|MedGen:CN230736;CLNDN_clinvar_20171029_hg19=,not_specified|Cardiovascular_phenotype;CLNHGVS_clinvar_20171029_hg19=,NC_000020.10:g.42744587G>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_020433.4:c.1728C>G;Coding_region_change_in_longest_transcript=,NM_020433.4:c.1728C>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0804;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2247;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,28;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,JPH2:57158;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:57158;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:57158;Genotype=,C/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:14202;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:14202;Homo_sapiens_refseq_GRCh37.p13_Genes=,JPH2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_020433.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene37868;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna56011;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:605267;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:605267;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene37868;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,42744587;RS_dbsnp_common_v150_hg19_refseq=,74352869;Read_count=,67;Read_coverage=,173;Read_direction_test_probability=,0.9997138976384141;Read_position_test_probability=,0.8839890298973898;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_020433.4;Reverse_read_coverage=,145;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0634;SF=1,4,5,9,10,23,25,27,28,38,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.765643|0.234357;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050168000305170536100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.947;db_xref=,GeneID:57158|HGNC:HGNC:14202|MIM:605267;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_020433.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,junctophilin_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,JPH2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,JPH2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMH17|JP-2|JP2;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,junctophilin_2|_transcript_variant_1;transcript_id=,NM_020433.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=JPH2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=JPH2:NM_020433:exon4:c.C1728G:p.P576P;cytoBand=20q13.12;genomicSuperDups=.;esp6500siv2_all=0.1883;esp6500siv2_ea=0.1887;esp6500siv2_all=0.1883;esp6500siv2_ea=0.1887;1000g2015aug_all=0.152955;avsnp147=rs74352869;Kaviar_AF=0.139054;Kaviar_AC=21498;Kaviar_AN=154602;ExAC_ALL=0.2132;ExAC_AFR=0.2989;ExAC_AMR=0.1504;ExAC_EAS=0.0773;ExAC_FIN=0.2840;ExAC_NFE=0.2759;ExAC_OTH=0.2117;ExAC_SAS=0.0946;CLNALLELEID=141312;CLNDN=Familial_hypertrophic_cardiomyopathy_17|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C3151264,OMIM:613873|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1959;dpsi_zscore=0.714;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1698;gnomAD_exome_AFR=0.2514;gnomAD_exome_AMR=0.1070;gnomAD_exome_ASJ=0.2308;gnomAD_exome_EAS=0.0635;gnomAD_exome_FIN=0.2176;gnomAD_exome_NFE=0.2230;gnomAD_exome_OTH=0.1839;gnomAD_exome_SAS=0.0840;gnomAD_genome_ALL=0.2249;gnomAD_genome_AFR=0.2603;gnomAD_genome_AMR=0.1079;gnomAD_genome_ASJ=0.2417;gnomAD_genome_EAS=0.0696;gnomAD_genome_FIN=0.2137;gnomAD_genome_NFE=0.2293;gnomAD_genome_OTH=0.2342;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . 1:163:0,65 . . 1:51:0,25 1:97:0,42 . . . 1:149:0,73 1:198:0,108 . . . . . . . . . . . . 1:219:0,114 . 1:126:0,52 . 1:211:0,98 1:209:0,104 . . . . . . . . . 1:142:0,82 . . 1:129:0,70 20 42744690 . C A 200.00 . #_unique_end_positions=,22;#_unique_start_positions=,16;AC=1;AN=1;Amino_acid_change=,NP_065166.2:p.Arg542Leu;Amino_acid_change_in_longest_transcript=,NP_065166.2:p.Arg542Leu;BaseQRankSum=,-0.18;Coding_region_change=,NM_020433.4:c.1625G>T;Coding_region_change_in_longest_transcript=,NM_020433.4:c.1625G>T;Forward_read_coverage=,21;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:57158;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:57158;Genotype=,A/C;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:14202;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:14202;Homo_sapiens_refseq_GRCh37.p13_Genes=,JPH2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_020433.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene37868;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna56011;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:605267;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:605267;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene37868;QUAL=,200.0;Read_count=,47;Read_coverage=,86;Read_direction_test_probability=,0.9376084431499359;Read_position_test_probability=,0.9082822662844459;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_020433.4;Reverse_read_coverage=,65;SF=31;conservation_score=,0.597;db_xref=,GeneID:57158|HGNC:HGNC:14202|MIM:605267;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_020433.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,junctophilin_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,JPH2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,JPH2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMH17|JP-2|JP2;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,junctophilin_2|_transcript_variant_1;transcript_id=,NM_020433.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=JPH2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=JPH2:NM_020433:exon4:c.G1625T:p.R542L;cytoBand=20q13.12;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.163;SIFT_pred=T;Polyphen2_HDIV_score=0.006;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.011;Polyphen2_HVAR_pred=B;LRT_score=0.062;LRT_pred=N;MutationTaster_score=0.999;MutationTaster_pred=N;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=0.25;FATHMM_pred=T;PROVEAN_score=-1.75;PROVEAN_pred=N;VEST3_score=0.08;CADD_raw=1.679;CADD_phred=14.29;DANN_score=0.936;fathmm-MKL_coding_score=0.411;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.089;MetaSVM_pred=T;MetaLR_score=0.080;MetaLR_pred=T;integrated_fitCons_score=0.598;integrated_confidence_value=0;GERP++_RS=-5.6;phyloP7way_vertebrate=-0.405;phyloP20way_mammalian=-0.539;phastCons7way_vertebrate=0.651;phastCons20way_mammalian=0.323;SiPhy_29way_logOdds=4.972;GDI_full_10282015=.;dpsi_max_tissue=-0.0300;dpsi_zscore=-0.164;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=1.216e-05;gnomAD_exome_AFR=0.0001;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0;gnomAD_exome_OTH=0;gnomAD_exome_SAS=3.954e-05;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:72:0,40 . . . . . . . . . . 20 42744722 . G A 3.66 . #_unique_end_positions=,1;#_unique_start_positions=,2;AC=1;AN=1;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.39;Coding_region_change=,NM_020433.4:c.1593C>T;Coding_region_change_in_longest_transcript=,NM_020433.4:c.1593C>T;Forward_read_coverage=,12;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:57158;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:57158;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:14202;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:14202;Homo_sapiens_refseq_GRCh37.p13_Genes=,JPH2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_020433.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene37868;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna56011;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:605267;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:605267;Non-synonymous=,No;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene37868;QUAL=,3.6641455122823876;Read_count=,4;Read_coverage=,24;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.5906156901367785;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_020433.4;Reverse_read_coverage=,12;SF=4;conservation_score=,0.035;db_xref=,GeneID:57158|HGNC:HGNC:14202|MIM:605267;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_020433.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,junctophilin_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,JPH2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,JPH2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMH17|JP-2|JP2;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,junctophilin_2|_transcript_variant_1;transcript_id=,NM_020433.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=JPH2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=JPH2:NM_020433:exon4:c.C1593T:p.G531G;cytoBand=20q13.12;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.1703;dpsi_zscore=0.662;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . 1:13:0,2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 20 42744802 30458;rs140740776 C T 123.18 . #_unique_end_positions=,23;#_unique_start_positions=,21;AC=2;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0204;AF_ESP_clinvar_20171029_hg19=,0.0071;AF_EXAC_clinvar_20171029_hg19=,0.05298;AF_TGP_clinvar_20171029_hg19=,0.0154;ALLELEID_clinvar_20171029_hg19=,39415;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0029;AN=2;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_065166.2:p.Gly505Ser;Amino_acid_change_in_longest_transcript=,NP_065166.2:p.Gly505Ser;BaseQRankSum=,-0.27;CAF_dbsnp_common_v150_hg19_refseq=,0.9846|.|0.01538;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C3151264|OMIM:613873|MedGen:CN169374|MedGen:CN230736;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_17|not_specified|Cardiovascular_phenotype;CLNHGVS_clinvar_20171029_hg19=,NC_000020.10:g.42744802C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_conflicting_interpretations;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,HGMD:CM073153|OMIM_Allelic_Variant:605267.0004|UniProtKB_(protein):Q9BR39#VAR_065475;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_020433.4:c.1513G>A;Coding_region_change_in_longest_transcript=,NM_020433.4:c.1513G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0040;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0109;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,18;GENEINFO_dbsnp_common_v150_hg19_refseq=,JPH2:57158;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:57158;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:57158;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:14202;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:14202;Homo_sapiens_refseq_GRCh37.p13_Genes=,JPH2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_020433.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene37868;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna56011;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:605267;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:605267;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;OM_dbsnp_common_v150_hg19_refseq=,OM;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene37868;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,42744802;RS_dbsnp_common_v150_hg19_refseq=,140740776;Read_count=,42;Read_coverage=,103;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.5281238469512984;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_020433.4;Reverse_read_coverage=,85;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0337;SF=29,39;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.98695|.|0.0130503;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050168000a05140036110100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.005;db_xref=,GeneID:57158|HGNC:HGNC:14202|MIM:605267;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_020433.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,junctophilin_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,JPH2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,JPH2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMH17|JP-2|JP2;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,junctophilin_2|_transcript_variant_1;transcript_id=,NM_020433.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=JPH2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=JPH2:NM_020433:exon4:c.G1513A:p.G505S;cytoBand=20q13.12;genomicSuperDups=.;esp6500siv2_all=0.0071;esp6500siv2_ea=0.004;esp6500siv2_all=0.0071;esp6500siv2_ea=0.004;1000g2015aug_all=0.0153754;avsnp147=rs140740776;Kaviar_AF=0.003564;Kaviar_AC=551;Kaviar_AN=154602;ExAC_ALL=0.0530;ExAC_AFR=0.1042;ExAC_AMR=0.0227;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0368;ExAC_OTH=0;ExAC_SAS=0.0728;CLNALLELEID=39415;CLNDN=Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_17|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3151264,OMIM:613873|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.617;SIFT_pred=T;Polyphen2_HDIV_score=0.019;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_pred=B;LRT_score=0.122;LRT_pred=U;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=1.39;MutationAssessor_pred=L;FATHMM_score=0.26;FATHMM_pred=T;PROVEAN_score=0.13;PROVEAN_pred=N;VEST3_score=0.125;CADD_raw=0.202;CADD_phred=4.698;DANN_score=0.803;fathmm-MKL_coding_score=0.024;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.061;MetaSVM_pred=T;MetaLR_score=0.039;MetaLR_pred=T;integrated_fitCons_score=0.598;integrated_confidence_value=0;GERP++_RS=1.03;phyloP7way_vertebrate=-0.070;phyloP20way_mammalian=-0.649;phastCons7way_vertebrate=0.046;phastCons20way_mammalian=0.001;SiPhy_29way_logOdds=3.534;GDI_full_10282015=.;dpsi_max_tissue=-0.1187;dpsi_zscore=-0.503;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM073153#"Cardiomyopathy_hypertrophic";gnomAD_exome_ALL=0.0091;gnomAD_exome_AFR=0.0211;gnomAD_exome_AMR=0.0035;gnomAD_exome_ASJ=0.0209;gnomAD_exome_EAS=0.0019;gnomAD_exome_FIN=0.0145;gnomAD_exome_NFE=0.0050;gnomAD_exome_OTH=0.0158;gnomAD_exome_SAS=0.0283;gnomAD_genome_ALL=0.0117;gnomAD_genome_AFR=0.0204;gnomAD_genome_AMR=0.0073;gnomAD_genome_ASJ=0.0166;gnomAD_genome_EAS=0.0012;gnomAD_genome_FIN=0.0098;gnomAD_genome_NFE=0.0081;gnomAD_genome_OTH=0.0165;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:91:0,38 . . . . . . . . . 1:34:0,24 . . 20 42747247 137607;rs3810510 C T 193.39 . #_unique_end_positions=,25;#_unique_start_positions=,16;AC=13;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3933;AF_ESP_clinvar_20171029_hg19=,0.1971;AF_EXAC_clinvar_20171029_hg19=,0.18458;AF_TGP_clinvar_20171029_hg19=,0.2704;ALLELEID_clinvar_20171029_hg19=,141310;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1009;AN=13;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_065166.2:p.Ala396Thr;Amino_acid_change_in_longest_transcript=,NP_065166.2:p.Ala396Thr;BaseQRankSum=,-0.2;CAF_dbsnp_common_v150_hg19_refseq=,0.7296|.|0.2704;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374|MedGen:CN230736;CLNDN_clinvar_20171029_hg19=,not_specified|Cardiovascular_phenotype;CLNHGVS_clinvar_20171029_hg19=,NC_000020.10:g.42747247C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,UniProtKB_(protein):Q9BR39#VAR_053447;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_020433.4:c.1186G>A;Coding_region_change_in_longest_transcript=,NM_020433.4:c.1186G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3571;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1163;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,13;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,JPH2:57158;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:57158;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:57158;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:14202;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:14202;Homo_sapiens_refseq_GRCh37.p13_Genes=,JPH2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_020433.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene37868;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna56011;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:605267;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:605267;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene37868;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,42747247;RS_dbsnp_common_v150_hg19_refseq=,3810510;Read_count=,34;Read_coverage=,60;Read_direction_test_probability=,0.4372352505858824;Read_position_test_probability=,0.40823349461668645;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_020433.4;Reverse_read_coverage=,47;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2935;SF=6,8,12,19,21,22,24,27,31,36,37;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.768768|.|0.231232;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050168000a0515053f100101;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.357143;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.141593;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.317073;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.333333;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.289773;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.369048;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.47093;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.404494;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.11;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.328671;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.147727;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.410714;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.998;db_xref=,GeneID:57158|HGNC:HGNC:14202|MIM:605267;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_020433.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,junctophilin_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,JPH2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,JPH2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMH17|JP-2|JP2;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,junctophilin_2|_transcript_variant_1;transcript_id=,NM_020433.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=JPH2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=JPH2:NM_020433:exon3:c.G1186A:p.A396T;cytoBand=20q13.12;genomicSuperDups=.;esp6500siv2_all=0.1971;esp6500siv2_ea=0.1290;esp6500siv2_all=0.1971;esp6500siv2_ea=0.1290;1000g2015aug_all=0.270367;avsnp147=rs3810510;Kaviar_AF=0.17732;Kaviar_AC=27414;Kaviar_AN=154602;ExAC_ALL=0.1846;ExAC_AFR=0.3438;ExAC_AMR=0.0907;ExAC_EAS=0.3714;ExAC_FIN=0.1023;ExAC_NFE=0.1362;ExAC_OTH=0.1789;ExAC_SAS=0.2811;CLNALLELEID=141310;CLNDN=Long_QT_syndrome|Familial_hypertrophic_cardiomyopathy_17|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C3151264,OMIM:613873|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.118;SIFT_pred=T;Polyphen2_HDIV_score=0.967;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.605;Polyphen2_HVAR_pred=P;LRT_score=0.097;LRT_pred=N;MutationTaster_score=0.006;MutationTaster_pred=P;MutationAssessor_score=1.53;MutationAssessor_pred=L;FATHMM_score=0.06;FATHMM_pred=T;PROVEAN_score=-2.54;PROVEAN_pred=D;VEST3_score=0.102;CADD_raw=5.490;CADD_phred=26.2;DANN_score=0.998;fathmm-MKL_coding_score=0.903;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.000;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.516;integrated_confidence_value=0;GERP++_RS=3.84;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.852;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=0.956;SiPhy_29way_logOdds=11.654;GDI_full_10282015=.;dpsi_max_tissue=1.6128;dpsi_zscore=1.827;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1768;gnomAD_exome_AFR=0.3488;gnomAD_exome_AMR=0.0963;gnomAD_exome_ASJ=0.1564;gnomAD_exome_EAS=0.3660;gnomAD_exome_FIN=0.1031;gnomAD_exome_NFE=0.1342;gnomAD_exome_OTH=0.1575;gnomAD_exome_SAS=0.2848;gnomAD_genome_ALL=0.1983;gnomAD_genome_AFR=0.3399;gnomAD_genome_AMR=0.1050;gnomAD_genome_ASJ=0.1159;gnomAD_genome_EAS=0.3668;gnomAD_genome_FIN=0.1030;gnomAD_genome_NFE=0.1291;gnomAD_genome_OTH=0.1656;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:DP:CLCAD2 . . . . . . 1:58:0,33 . 1/1:83:0,83 . . . 1:90:0,38 . . . . . . 1:64:0,23 . 1:107:0,55 1:125:0,61 . 1:90:0,50 . . 1:120:0,59 . . . 1:73:0,34 . . . . 1/1:65:0,65 1:71:0,28 . . . . 20 42747254 137606;rs7268512 G A 200.00 . #_unique_end_positions=,17;#_unique_start_positions=,18;AC=4;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0719;AF_ESP_clinvar_20171029_hg19=,0.0939;AF_EXAC_clinvar_20171029_hg19=,0.07155;AF_TGP_clinvar_20171029_hg19=,0.0487;ALLELEID_clinvar_20171029_hg19=,141309;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0447;AN=4;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.9513|0.04872;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374|MedGen:CN230736;CLNDN_clinvar_20171029_hg19=,not_specified|Cardiovascular_phenotype;CLNHGVS_clinvar_20171029_hg19=,NC_000020.10:g.42747254G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_020433.4:c.1179C>T;Coding_region_change_in_longest_transcript=,NM_020433.4:c.1179C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0109;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0895;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,14;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,JPH2:57158;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:57158;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:57158;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:14202;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:14202;Homo_sapiens_refseq_GRCh37.p13_Genes=,JPH2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_020433.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene37868;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna56011;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:605267;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:605267;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene37868;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,42747254;RS_dbsnp_common_v150_hg19_refseq=,7268512;Read_count=,30;Read_coverage=,72;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9990043043363884;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_020433.4;Reverse_read_coverage=,58;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0174;SF=1,5,10,27;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.915722|0.0842778;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050168000305150536100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.966;db_xref=,GeneID:57158|HGNC:HGNC:14202|MIM:605267;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_020433.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,junctophilin_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,JPH2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,JPH2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMH17|JP-2|JP2;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,junctophilin_2|_transcript_variant_1;transcript_id=,NM_020433.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=JPH2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=JPH2:NM_020433:exon3:c.C1179T:p.H393H;cytoBand=20q13.12;genomicSuperDups=.;esp6500siv2_all=0.0939;esp6500siv2_ea=0.1027;esp6500siv2_all=0.0939;esp6500siv2_ea=0.1027;1000g2015aug_all=0.048722;avsnp147=rs7268512;Kaviar_AF=0.0727675;Kaviar_AC=11250;Kaviar_AN=154602;ExAC_ALL=0.0715;ExAC_AFR=0.0805;ExAC_AMR=0.0392;ExAC_EAS=0.0094;ExAC_FIN=0.0786;ExAC_NFE=0.0937;ExAC_OTH=0.0622;ExAC_SAS=0.0295;CLNALLELEID=141309;CLNDN=Familial_hypertrophic_cardiomyopathy_17|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C3151264,OMIM:613873|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.3260;dpsi_zscore=0.927;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0689;gnomAD_exome_AFR=0.0782;gnomAD_exome_AMR=0.0423;gnomAD_exome_ASJ=0.0574;gnomAD_exome_EAS=0.0084;gnomAD_exome_FIN=0.0786;gnomAD_exome_NFE=0.0951;gnomAD_exome_OTH=0.0731;gnomAD_exome_SAS=0.0289;gnomAD_genome_ALL=0.0840;gnomAD_genome_AFR=0.0783;gnomAD_genome_AMR=0.0501;gnomAD_genome_ASJ=0.0695;gnomAD_genome_EAS=0.0148;gnomAD_genome_FIN=0.0704;gnomAD_genome_NFE=0.1001;gnomAD_genome_OTH=0.0845;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . 1:64:0,27 . . . 1:76:0,34 . . . . 1:89:0,39 . . . . . . . . . . . . . . . . 1:114:0,55 . . . . . . . . . . . . . . 20 42788735 225099 C T 141.91 . #_unique_end_positions=,16;#_unique_start_positions=,13;AC=1;AF_EXAC_clinvar_20171029_hg19=,0.00010;ALLELEID_clinvar_20171029_hg19=,226979;AN=1;Amino_acid_change=,NP_065166.2:p.Arg231Gln;Amino_acid_change_in_longest_transcript=,NP_065166.2:p.Arg231Gln;BaseQRankSum=,0.0;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MeSH:D030342|MedGen:C0950123;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Inborn_genetic_diseases;CLNHGVS_clinvar_20171029_hg19=,NC_000020.10:g.42788735C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;Coding_region_change=,NM_020433.4:c.692G>A;Coding_region_change_in_longest_transcript=,NM_020433.4:c.692G>A;Exact_match=,clinvar_20171029_hg19;Forward_read_coverage=,3;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:57158;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:57158;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:14202;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:14202;Homo_sapiens_refseq_GRCh37.p13_Genes=,JPH2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_020433.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene37868;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna56011;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:605267;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:605267;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene37868;QUAL=,141.91161776628067;Read_count=,24;Read_coverage=,43;Read_direction_test_probability=,0.8312871267108893;Read_position_test_probability=,0.9103183667140287;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_020433.4;Reverse_read_coverage=,40;SF=1;conservation_score=,0.873;db_xref=,GeneID:57158|HGNC:HGNC:14202|MIM:605267;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_020433.4;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,junctophilin_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,JPH2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,JPH2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMH17|JP-2|JP2;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,junctophilin_2|_transcript_variant_1;transcript_id=,NM_020433.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=JPH2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=JPH2:NM_020433:exon2:c.G692A:p.R231Q;cytoBand=20q13.12;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs761591158;Kaviar_AF=5.17e-05;Kaviar_AC=8;Kaviar_AN=154602;ExAC_ALL=9.477e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0004;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=226979;CLNDN=Hypertrophic_cardiomyopathy|Inborn_genetic_diseases;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MeSH:D030342,MedGen:C0950123;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.071;SIFT_pred=T;Polyphen2_HDIV_score=0.968;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.194;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=U;MutationTaster_score=0.625;MutationTaster_pred=N;MutationAssessor_score=2.195;MutationAssessor_pred=M;FATHMM_score=-0.11;FATHMM_pred=T;PROVEAN_score=-2.39;PROVEAN_pred=N;VEST3_score=0.178;CADD_raw=4.748;CADD_phred=24.7;DANN_score=0.999;fathmm-MKL_coding_score=0.191;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.868;MetaSVM_pred=T;MetaLR_score=0.157;MetaLR_pred=T;integrated_fitCons_score=0.516;integrated_confidence_value=0;GERP++_RS=3.03;phyloP7way_vertebrate=0.787;phyloP20way_mammalian=0.626;phastCons7way_vertebrate=0.340;phastCons20way_mammalian=0.092;SiPhy_29way_logOdds=6.421;GDI_full_10282015=.;dpsi_max_tissue=-0.0500;dpsi_zscore=-0.265;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0002;gnomAD_exome_AFR=0.0002;gnomAD_exome_AMR=0.0003;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0004;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0004;gnomAD_genome_AFR=0.0002;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0006;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:DP:CLCAD2 . 1:41:0,22 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 20 42815190 137602;rs1883790 G A 189.27 . #_unique_end_positions=,93;#_unique_start_positions=,78;AC=66;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9607;ALLELEID_clinvar_20171029_hg19=,141305;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.8948;AN=66;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.28;CAF_dbsnp_common_v150_hg19_refseq=,0.1458|0.8542;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374|MedGen:CN230736;CLNDN_clinvar_20171029_hg19=,not_specified|Cardiovascular_phenotype;CLNHGVS_clinvar_20171029_hg19=,NC_000020.10:g.42815190G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,ARUP_Laboratories|_Molecular_Genetics_and_Genomics:49062;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_020433.4:c.156C>T|_NM_175913.3:c.156C>T;Coding_region_change_in_longest_transcript=,NM_020433.4:c.156C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7450;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.8270;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,100;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,JPH2:57158;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:57158;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:57158;Genotype=,A/A;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:14202;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:14202;Homo_sapiens_refseq_GRCh37.p13_Genes=,JPH2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_020433.4|NM_175913.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene37868;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna56011|rna56012;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:605267;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:605267;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene37868;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,42815190;RS_dbsnp_common_v150_hg19_refseq=,1883790;Read_count=,210;Read_coverage=,210;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_020433.4|NM_175913.3;Reverse_read_coverage=,110;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.8221;SF=1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,19,20,21,22,23,24,25,26,27,28,29,30,31,32,34,35,36,37,38,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.132186|0.867814;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05016800030515053f100100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.94898;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.831858;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.756098;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.758824;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.863636;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.686047;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.738372;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.927778;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.88;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.883803;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.818182;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.973451;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.986;db_xref=,GeneID:57158|HGNC:HGNC:14202|MIM:605267;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_020433.4|Genbank:NM_175913.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,junctophilin_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,JPH2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,JPH2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CMH17|JP-2|JP2;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,junctophilin_2|_transcript_variant_1|junctophilin_2|_transcript_variant_2;transcript_id=,NM_020433.4|NM_175913.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=JPH2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=JPH2:NM_020433:exon1:c.C156T:p.Y52Y,JPH2:NM_175913:exon1:c.C156T:p.Y52Y;cytoBand=20q13.12;genomicSuperDups=.;esp6500siv2_all=0.8663;esp6500siv2_ea=0.8293;esp6500siv2_all=0.8663;esp6500siv2_ea=0.8293;1000g2015aug_all=0.854233;avsnp147=rs1883790;Kaviar_AF=0.83832;Kaviar_AC=129606;Kaviar_AN=154602;ExAC_ALL=0.8450;ExAC_AFR=0.9394;ExAC_AMR=0.9240;ExAC_EAS=0.7468;ExAC_FIN=0.8417;ExAC_NFE=0.8316;ExAC_OTH=0.8565;ExAC_SAS=0.8359;CLNALLELEID=141305;CLNDN=Familial_hypertrophic_cardiomyopathy_17|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C3151264,OMIM:613873|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.8455;gnomAD_exome_AFR=0.9388;gnomAD_exome_AMR=0.9157;gnomAD_exome_ASJ=0.8447;gnomAD_exome_EAS=0.7481;gnomAD_exome_FIN=0.8464;gnomAD_exome_NFE=0.8292;gnomAD_exome_OTH=0.8395;gnomAD_exome_SAS=0.8367;gnomAD_genome_ALL=0.8612;gnomAD_genome_AFR=0.9363;gnomAD_genome_AMR=0.9043;gnomAD_genome_ASJ=0.8113;gnomAD_genome_EAS=0.7379;gnomAD_genome_FIN=0.8314;gnomAD_genome_NFE=0.8375;gnomAD_genome_OTH=0.8432;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . 1/1:199:0,199 1:179:0,83 1/1:192:0,192 1/1:148:0,148 1:209:0,95 1:136:0,61 1/1:179:0,179 1/1:212:0,212 1/1:169:0,169 1/1:244:0,244 1/1:211:0,211 1:199:0,95 1:242:0,113 1/1:301:0,300 1:206:0,95 1:273:0,134 1/1:233:0,233 . 1:185:0,93 1:151:0,68 1/1:249:0,249 1/1:297:0,297 1/1:253:0,253 1/1:239:0,239 1/1:135:0,135 1:210:0,107 1/1:243:0,243 1/1:257:0,257 1/1:246:0,246 1/1:203:0,203 1/1:174:0,174 1/1:198:0,198 . 1/1:213:0,213 1:174:0,78 1/1:173:0,173 1/1:143:0,143 1/1:137:0,137 1/1:223:0,223 1:226:0,122 1/1:143:0,143 20 61039958 rs6061550 T C 197.46 . #_unique_end_positions=,41;#_unique_start_positions=,34;AC=44;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.8442;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4510;AN=44;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.18;CAF_dbsnp_common_v150_hg19_refseq=,0.3708|0.6292;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_080473.4:c.1128A>G;Coding_region_change_in_longest_transcript=,NM_080473.4:c.1128A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5238;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4791;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,77;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,GATA5:140628;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:140628;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:140628;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15802;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15802;Homo_sapiens_refseq_GRCh37.p13_Genes=,GATA5;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_080473.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene38175;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna56580;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:611496;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:611496;Non-synonymous=,No;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene38175;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,61039958;RS_dbsnp_common_v150_hg19_refseq=,6061550;Read_count=,74;Read_coverage=,155;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9739628223459659;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_080473.4;Reverse_read_coverage=,78;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7280;SF=1,2,3,4,5,7,8,9,10,13,14,15,16,17,19,20,21,23,24,25,26,29,30,31,32,33,34,35,36,37,38,39,40;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05010000030517053e000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.994;db_xref=,GeneID:140628|HGNC:HGNC:15802|MIM:611496;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:17029;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_080473.4|HPRD:17029;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GATA_binding_protein_5;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GATA5;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GATA5;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,bB379O24.1|GATAS;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GATA_binding_protein_5;transcript_id=,NM_080473.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GATA5;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GATA5:NM_080473:exon7:c.A1128G:p.P376P;cytoBand=20q13.33;genomicSuperDups=.;esp6500siv2_all=0.6006;esp6500siv2_ea=0.5094;esp6500siv2_all=0.6006;esp6500siv2_ea=0.5094;1000g2015aug_all=0.629193;avsnp147=rs6061550;Kaviar_AF=0.532716;Kaviar_AC=82359;Kaviar_AN=154602;ExAC_ALL=0.5504;ExAC_AFR=0.7971;ExAC_AMR=0.4291;ExAC_EAS=0.5205;ExAC_FIN=0.5229;ExAC_NFE=0.5152;ExAC_OTH=0.5491;ExAC_SAS=0.6518;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.5374;gnomAD_exome_AFR=0.8023;gnomAD_exome_AMR=0.4333;gnomAD_exome_ASJ=0.5052;gnomAD_exome_EAS=0.5123;gnomAD_exome_FIN=0.5147;gnomAD_exome_NFE=0.5142;gnomAD_exome_OTH=0.5200;gnomAD_exome_SAS=0.6482;gnomAD_genome_ALL=0.6055;gnomAD_genome_AFR=0.8005;gnomAD_genome_AMR=0.4432;gnomAD_genome_ASJ=0.5265;gnomAD_genome_EAS=0.5012;gnomAD_genome_FIN=0.5152;gnomAD_genome_NFE=0.5374;gnomAD_genome_OTH=0.5619;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . 1:130:0,61 1:131:0,65 1/1:102:0,102 1:101:0,48 1:150:0,64 . 1:115:0,52 1:126:0,59 1/1:116:0,116 1:143:0,61 . . 1:142:0,54 1:199:0,97 1:166:0,77 1:171:0,84 1/1:150:0,150 . 1:122:0,58 1:112:0,61 1/1:123:0,123 . 1:174:0,79 1:176:0,77 1:96:0,47 1/1:125:0,125 . . 1/1:148:0,148 1:108:0,54 1:89:0,39 1/1:159:0,158 1/1:114:0,114 1/1:106:0,106 1:139:0,81 1:106:0,46 1/1:88:0,88 1:108:0,48 1:159:0,82 1/1:136:0,136 . 20 61040453 rs6061243 C G 193.79 . #_unique_end_positions=,32;#_unique_start_positions=,28;AC=42;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7171;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4755;AN=42;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.4655|0.5345|.;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_080473.4:c.981G>C;Coding_region_change_in_longest_transcript=,NM_080473.4:c.981G>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4613;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4642;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,35;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,GATA5:140628;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:140628;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:140628;Genotype=,C/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15802;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15802;Homo_sapiens_refseq_GRCh37.p13_Genes=,GATA5;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_080473.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene38175;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna56580;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:611496;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:611496;Non-synonymous=,No;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene38175;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,61040453;RS_dbsnp_common_v150_hg19_refseq=,6061243;Read_count=,39;Read_coverage=,69;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9448074433975161;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_080473.4;Reverse_read_coverage=,34;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4775;SF=0,1,2,5,6,7,8,9,11,12,13,15,16,18,19,21,22,23,25,26,27,28,29,30,31,32,33,34,36,37,38,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05012800030515053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.464912;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.5;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.512195;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.801724;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.011;db_xref=,GeneID:140628|HGNC:HGNC:15802|MIM:611496;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:17029;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_080473.4|HPRD:17029;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GATA_binding_protein_5;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GATA5;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GATA5;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,bB379O24.1|GATAS;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GATA_binding_protein_5;transcript_id=,NM_080473.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GATA5;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GATA5:NM_080473:exon6:c.G981C:p.S327S;cytoBand=20q13.33;genomicSuperDups=.;esp6500siv2_all=0.5395;esp6500siv2_ea=0.4841;esp6500siv2_all=0.5395;esp6500siv2_ea=0.4841;1000g2015aug_all=0.534545;avsnp147=rs6061243;Kaviar_AF=0.469942;Kaviar_AC=72654;Kaviar_AN=154602;ExAC_ALL=0.4965;ExAC_AFR=0.6694;ExAC_AMR=0.4595;ExAC_EAS=0.4920;ExAC_FIN=0.4878;ExAC_NFE=0.4912;ExAC_OTH=0.5235;ExAC_SAS=0.4408;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.7884;dpsi_zscore=-1.335;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.4856;gnomAD_exome_AFR=0.6681;gnomAD_exome_AMR=0.4604;gnomAD_exome_ASJ=0.4207;gnomAD_exome_EAS=0.4802;gnomAD_exome_FIN=0.4670;gnomAD_exome_NFE=0.4921;gnomAD_exome_OTH=0.4783;gnomAD_exome_SAS=0.4363;gnomAD_genome_ALL=0.5419;gnomAD_genome_AFR=0.6670;gnomAD_genome_AMR=0.4617;gnomAD_genome_ASJ=0.4205;gnomAD_genome_EAS=0.4665;gnomAD_genome_FIN=0.4693;gnomAD_genome_NFE=0.5042;gnomAD_genome_OTH=0.4949;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:64:0,38 1:133:0,71 1/1:167:0,167 . . 1:115:0,67 1:86:0,45 1/1:140:0,140 1:141:0,74 1:143:0,81 . 1:139:0,81 1:121:0,68 1:145:0,80 . 1:143:0,62 1:155:0,86 . 1:112:0,69 1/1:125:0,125 . 1/1:158:0,158 1:216:0,114 1:221:0,115 . 1:136:0,56 1:127:0,67 1:159:0,106 1:214:0,110 1/1:161:0,161 1/1:142:0,142 1/1:98:0,98 1:137:0,77 1:115:0,66 1:115:0,63 . 1:110:0,53 1:103:0,62 1:108:0,52 1:166:0,95 1/1:129:0,129 1:120:0,56 20 61040951 rs6587239 C T 181.72 . #_unique_end_positions=,11;#_unique_start_positions=,11;AC=41;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7224;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4769;AN=41;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.19;CAF_dbsnp_common_v150_hg19_refseq=,0.4704|.|0.5296;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_080473.4:c.852G>A;Coding_region_change_in_longest_transcript=,NM_080473.4:c.852G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4315;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4622;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,18;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,GATA5:140628;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:140628;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:140628;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15802;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15802;Homo_sapiens_refseq_GRCh37.p13_Genes=,GATA5;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_080473.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene38175;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna56580;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:611496;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:611496;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,No;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene38175;QUAL=,62.30851588403664;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,61040951;RS_dbsnp_common_v150_hg19_refseq=,6587239;Read_count=,17;Read_coverage=,46;Read_direction_test_probability=,0.8031058012664698;Read_position_test_probability=,0.783189851806789;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_080473.4;Reverse_read_coverage=,28;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4765;SF=0,1,2,5,6,7,8,9,11,12,13,15,16,18,19,21,22,23,25,26,27,28,29,30,31,32,33,34,37,38,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128000b0515053f000101;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.663265;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.477876;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.4375;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.388235;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.465909;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.44186;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.517442;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.761111;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.42;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.56993;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.4375;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.734513;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.992;db_xref=,GeneID:140628|HGNC:HGNC:15802|MIM:611496;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:17029;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_080473.4|HPRD:17029;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GATA_binding_protein_5;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GATA5;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GATA5;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,bB379O24.1|GATAS;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GATA_binding_protein_5;transcript_id=,NM_080473.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GATA5;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GATA5:NM_080473:exon5:c.G852A:p.K284K;cytoBand=20q13.33;genomicSuperDups=.;esp6500siv2_all=0.5360;esp6500siv2_ea=0.4776;esp6500siv2_all=0.5360;esp6500siv2_ea=0.4776;1000g2015aug_all=0.529553;avsnp147=rs6587239;Kaviar_AF=0.442724;Kaviar_AC=68446;Kaviar_AN=154602;ExAC_ALL=0.5461;ExAC_AFR=0.6845;ExAC_AMR=0.5418;ExAC_EAS=0.5244;ExAC_FIN=0.5655;ExAC_NFE=0.5459;ExAC_OTH=0.5856;ExAC_SAS=0.4710;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.8121;dpsi_zscore=-1.352;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.4727;gnomAD_exome_AFR=0.6652;gnomAD_exome_AMR=0.4560;gnomAD_exome_ASJ=0.4139;gnomAD_exome_EAS=0.4436;gnomAD_exome_FIN=0.4586;gnomAD_exome_NFE=0.4787;gnomAD_exome_OTH=0.4684;gnomAD_exome_SAS=0.4315;gnomAD_genome_ALL=0.5378;gnomAD_genome_AFR=0.6703;gnomAD_genome_AMR=0.4594;gnomAD_genome_ASJ=0.4139;gnomAD_genome_EAS=0.4308;gnomAD_genome_FIN=0.4642;gnomAD_genome_NFE=0.4993;gnomAD_genome_OTH=0.4898;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:37:0,12 1:81:0,41 1/1:73:0,73 . . 1:70:0,30 1:47:0,21 1/1:61:0,61 1:78:0,42 1:80:0,40 . 1:92:0,49 1:74:0,37 1:73:0,26 . 1:89:0,45 1:92:0,48 . 1:50:0,18 1/1:52:0,52 . 1/1:82:0,82 1:103:0,53 1:115:0,52 . 1:62:0,33 1:80:0,37 1:92:0,48 1:92:0,46 1/1:77:0,77 1/1:81:0,81 1/1:47:0,47 1:77:0,38 1:61:0,24 1:75:0,33 . . 1:57:0,26 1:78:0,43 1:79:0,35 1/1:77:0,77 1:65:0,35 20 61048549 rs41305803 G A 197.39 . #_unique_end_positions=,29;#_unique_start_positions=,29;AC=45;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4501;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4380;AN=45;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.87;CAF_dbsnp_common_v150_hg19_refseq=,0.6118|0.3882;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_080473.4:c.609C>T;Coding_region_change_in_longest_transcript=,NM_080473.4:c.609C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3403;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4404;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,39;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,GATA5:140628;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:140628;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:140628;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15802;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15802;Homo_sapiens_refseq_GRCh37.p13_Genes=,GATA5;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_080473.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene38175;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna56580;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:611496;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:611496;Non-synonymous=,No;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene38175;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,61048549;RS_dbsnp_common_v150_hg19_refseq=,41305803;Read_count=,47;Read_coverage=,112;Read_direction_test_probability=,0.9752493893549936;Read_position_test_probability=,0.6213732468158499;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_080473.4;Reverse_read_coverage=,73;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2648;SF=0,2,3,4,5,6,7,8,9,10,11,12,13,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,34,35,36,37,38,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05030000030517053e000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.189;db_xref=,GeneID:140628|HGNC:HGNC:15802|MIM:611496;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:17029;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_080473.4|HPRD:17029;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GATA_binding_protein_5;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GATA5;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GATA5;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,bB379O24.1|GATAS;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GATA_binding_protein_5;transcript_id=,NM_080473.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GATA5;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GATA5:NM_080473:exon3:c.C609T:p.D203D;cytoBand=20q13.33;genomicSuperDups=.;esp6500siv2_all=0.4308;esp6500siv2_ea=0.4344;esp6500siv2_all=0.4308;esp6500siv2_ea=0.4344;1000g2015aug_all=0.388179;avsnp147=rs41305803;Kaviar_AF=0.383902;Kaviar_AC=59352;Kaviar_AN=154602;ExAC_ALL=0.4429;ExAC_AFR=0.4618;ExAC_AMR=0.4787;ExAC_EAS=0.4120;ExAC_FIN=0.4961;ExAC_NFE=0.4679;ExAC_OTH=0.4612;ExAC_SAS=0.3045;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.0152;dpsi_zscore=0.104;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.4062;gnomAD_exome_AFR=0.4235;gnomAD_exome_AMR=0.4314;gnomAD_exome_ASJ=0.4049;gnomAD_exome_EAS=0.3686;gnomAD_exome_FIN=0.4108;gnomAD_exome_NFE=0.4383;gnomAD_exome_OTH=0.4247;gnomAD_exome_SAS=0.2714;gnomAD_genome_ALL=0.4237;gnomAD_genome_AFR=0.4263;gnomAD_genome_AMR=0.4378;gnomAD_genome_ASJ=0.4205;gnomAD_genome_EAS=0.3586;gnomAD_genome_FIN=0.4086;gnomAD_genome_NFE=0.4330;gnomAD_genome_OTH=0.4104;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:98:0,38 . 1/1:137:0,137 1:144:0,63 1:75:0,36 1/1:143:0,143 1:114:0,32 1:132:0,54 1:178:0,95 1:123:0,62 1:169:0,82 1:146:0,66 1:158:0,72 1:162:0,64 . 1:163:0,74 1/1:162:0,162 1/1:144:0,144 1:141:0,60 1:149:0,77 1:171:0,78 1:174:0,82 1:213:0,105 1/1:148:0,148 1:178:0,74 1:112:0,58 1:147:0,71 1/1:197:0,197 1:164:0,84 1:185:0,92 1:158:0,93 1/1:92:0,92 . . 1:161:0,58 1:163:0,80 1:109:0,46 1:125:0,51 1/1:119:0,119 . 1:150:0,63 1:133:0,66 20 61050379 rs6142775 T G 79.97 . #_unique_end_positions=,8;#_unique_start_positions=,8;AC=12;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0734;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1888;AN=12;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_536721.1:p.Thr67Pro;Amino_acid_change_in_longest_transcript=,NP_536721.1:p.Thr67Pro;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.8574|0.1426;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_080473.4:c.199A>C;Coding_region_change_in_longest_transcript=,NM_080473.4:c.199A>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1042;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1610;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,20;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,GATA5:140628;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:140628;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:140628;Genotype=,G/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:15802;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:15802;Homo_sapiens_refseq_GRCh37.p13_Genes=,GATA5;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_080473.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene38175;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna56580;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:611496;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:611496;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene38175;QUAL=,57.949785022138805;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,61050379;RS_dbsnp_common_v150_hg19_refseq=,6142775;Read_count=,10;Read_coverage=,25;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9810438754004221;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_080473.4;Reverse_read_coverage=,5;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2239;SF=1,7,11,19,29,32,34,35,37,39,40;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050100000a05150136000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.427;db_xref=,GeneID:140628|HGNC:HGNC:15802|MIM:611496;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:17029;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_080473.4|HPRD:17029;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GATA_binding_protein_5;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GATA5;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GATA5;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,bB379O24.1|GATAS;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GATA_binding_protein_5;transcript_id=,NM_080473.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GATA5;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=GATA5:NM_080473:exon2:c.A199C:p.T67P;cytoBand=20q13.33;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.142572;avsnp147=rs6142775;Kaviar_AF=0.0343851;Kaviar_AC=5316;Kaviar_AN=154602;ExAC_ALL=0.2564;ExAC_AFR=0.2;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=0.2407;ExAC_OTH=.;ExAC_SAS=0.3571;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.851;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.948;MutationTaster_pred=P;MutationAssessor_score=-0.55;MutationAssessor_pred=N;FATHMM_score=-4.73;FATHMM_pred=D;PROVEAN_score=0.56;PROVEAN_pred=N;VEST3_score=0.114;CADD_raw=0.113;CADD_phred=3.744;DANN_score=0.440;fathmm-MKL_coding_score=0.231;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.686;MetaSVM_pred=T;MetaLR_score=0.005;MetaLR_pred=T;integrated_fitCons_score=0.598;integrated_confidence_value=0;GERP++_RS=1.8;phyloP7way_vertebrate=-0.071;phyloP20way_mammalian=-0.428;phastCons7way_vertebrate=0.035;phastCons20way_mammalian=0.004;SiPhy_29way_logOdds=6.326;GDI_full_10282015=.;dpsi_max_tissue=-0.0268;dpsi_zscore=-0.146;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1625;gnomAD_exome_AFR=0.0625;gnomAD_exome_AMR=0.225;gnomAD_exome_ASJ=0.0882;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.1567;gnomAD_exome_NFE=0.1733;gnomAD_exome_OTH=0.1471;gnomAD_exome_SAS=0.1667;gnomAD_genome_ALL=0.1524;gnomAD_genome_AFR=0.0988;gnomAD_genome_AMR=0.2141;gnomAD_genome_ASJ=0.16;gnomAD_genome_EAS=0.1210;gnomAD_genome_FIN=0.1588;gnomAD_genome_NFE=0.1805;gnomAD_genome_OTH=0.1738;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . 1:20:0,8 . . . . . 1:44:0,15 . . . 1:18:0,4 . . . . . . . 1:24:0,7 . . . . . . . . . 1:56:0,23 . . 1:37:0,16 . 1:39:0,15 1:48:0,17 . 1:13:0,5 . 1/1:24:0,24 1:33:0,14 . 21 35742799 67615;rs2234916 A G 200.00 . #_unique_end_positions=,24;#_unique_start_positions=,23;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0049;AF_EXAC_clinvar_20171029_hg19=,0.00380;AF_TGP_clinvar_20171029_hg19=,0.0014;ALLELEID_clinvar_20171029_hg19=,78511;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_751951.1:p.Thr8Ala;Amino_acid_change_in_longest_transcript=,NP_751951.1:p.Thr8Ala;BaseQRankSum=,-0.23;CAF_dbsnp_common_v150_hg19_refseq=,0.9986|0.001398;CLNDISDB_clinvar_20171029_hg19=,MedGen:C3150953|OMIM:613693|MedGen:CN169374|MedGen:CN221566|MedGen:CN230736|MedGen:CN517202;CLNDN_clinvar_20171029_hg19=,Long_QT_syndrome_6|not_specified|Long_QT_syndrome|_drug-associated|Cardiovascular_phenotype|not_provided;CLNHGVS_clinvar_20171029_hg19=,NC_000021.8:g.35742799A>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,UniProtKB_(protein):Q9Y6J6#VAR_008375;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_058182.4:c.-5145A>G|_NM_172201.1:c.22A>G;Coding_region_change_in_longest_transcript=,NM_172201.1:c.22A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0070;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,34;GENEINFO_dbsnp_common_v150_hg19_refseq=,KCNE2:9992;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:9992;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:9992;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:6242;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:6242;Homo_sapiens_refseq_GRCh37.p13_Genes=,KCNE2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_172201.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene38540;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna57071;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:603796;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:603796;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene38540;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,35742799;RS_dbsnp_common_v150_hg19_refseq=,2234916;Read_count=,30;Read_coverage=,59;Read_direction_test_probability=,0.9118890895094127;Read_position_test_probability=,0.8296701757234441;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_172201.1;Reverse_read_coverage=,25;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=40;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.996634|0.00336562;TPA_dbsnp_common_v150_hg19_refseq=,TPA;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050178000a05040536100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.922;db_xref=,GeneID:9992|HGNC:HGNC:6242|MIM:603796;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:04813;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_172201.1|HPRD:04813;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,potassium_voltage-gated_channel_subfamily_E_regulatory_subunit_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,KCNE2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,KCNE2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ATFB4|LQT5|LQT6|MIRP1;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,potassium_voltage-gated_channel_subfamily_E_regulatory_subunit_2;transcript_id=,NM_172201.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KCNE2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=KCNE2:NM_172201:exon2:c.A22G:p.T8A;cytoBand=21q22.11;genomicSuperDups=.;esp6500siv2_all=0.0049;esp6500siv2_ea=0.0069;esp6500siv2_all=0.0049;esp6500siv2_ea=0.0069;1000g2015aug_all=0.00139776;avsnp147=rs2234916;Kaviar_AF=0.0040426;Kaviar_AC=625;Kaviar_AN=154602;ExAC_ALL=0.0038;ExAC_AFR=0.0012;ExAC_AMR=0.0027;ExAC_EAS=0;ExAC_FIN=0.0053;ExAC_NFE=0.0054;ExAC_OTH=0.0055;ExAC_SAS=0.0009;CLNALLELEID=78511;CLNDN=Long_QT_syndrome_6|not_specified|Long_QT_syndrome,_drug-associated|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C3150953,OMIM:613693|MedGen:CN169374|MedGen:CN221566|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.991;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.996;MutationTaster_pred=D;MutationAssessor_score=1.04;MutationAssessor_pred=L;FATHMM_score=-3.29;FATHMM_pred=D;PROVEAN_score=-2.63;PROVEAN_pred=D;VEST3_score=0.824;CADD_raw=4.000;CADD_phred=23.6;DANN_score=0.995;fathmm-MKL_coding_score=0.993;fathmm-MKL_coding_pred=D;MetaSVM_score=0.702;MetaSVM_pred=D;MetaLR_score=0.766;MetaLR_pred=D;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.53;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.199;phastCons7way_vertebrate=0.868;phastCons20way_mammalian=0.968;SiPhy_29way_logOdds=15.319;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM003449#"Long_QT_interval_drug_induced_association_with";gnomAD_exome_ALL=0.0037;gnomAD_exome_AFR=0.0009;gnomAD_exome_AMR=0.0025;gnomAD_exome_ASJ=0.0017;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0038;gnomAD_exome_NFE=0.0060;gnomAD_exome_OTH=0.0033;gnomAD_exome_SAS=0.0009;gnomAD_genome_ALL=0.0040;gnomAD_genome_AFR=0.0009;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0.0033;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0034;gnomAD_genome_NFE=0.0064;gnomAD_genome_OTH=0.0051;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=3 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:55:0,28 . 21 35742947 6054;rs74315448 T C 200.00 . #_unique_end_positions=,35;#_unique_start_positions=,35;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0004;AF_EXAC_clinvar_20171029_hg19=,0.00088;AF_TGP_clinvar_20171029_hg19=,0.0008;ALLELEID_clinvar_20171029_hg19=,21093;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0014;AN=1;Amino_acid_change=,NP_751951.1:p.Ile57Thr;Amino_acid_change_in_longest_transcript=,NP_751951.1:p.Ile57Thr;BaseQRankSum=,0.01;CLNDISDB_clinvar_20171029_hg19=,MedGen:C0003811|OMIM:115000|MedGen:C3150953|OMIM:613693|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNDN_clinvar_20171029_hg19=,Cardiac_arrhythmia|Long_QT_syndrome_6|not_specified|Cardiovascular_phenotype|not_provided;CLNHGVS_clinvar_20171029_hg19=,NC_000021.8:g.35742947T>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_conflicting_interpretations;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,OMIM_Allelic_Variant:603796.0003|UniProtKB_(protein):Q9Y6J6#VAR_008378;Coding_region_change=,NM_058182.4:c.-4997T>C|_NM_172201.1:c.170T>C;Coding_region_change_in_longest_transcript=,NM_172201.1:c.170T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0030;Exact_match=,clinvar_20171029_hg19|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,46;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:9992;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:9992;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:6242;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:6242;Homo_sapiens_refseq_GRCh37.p13_Genes=,KCNE2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_172201.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene38540;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna57071;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:603796;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:603796;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene38540;QUAL=,200.0;Read_count=,47;Read_coverage=,92;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.972732663240413;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_172201.1;Reverse_read_coverage=,46;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=3;conservation_score=,0.924;db_xref=,GeneID:9992|HGNC:HGNC:6242|MIM:603796;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:04813;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_172201.1|HPRD:04813;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,potassium_voltage-gated_channel_subfamily_E_regulatory_subunit_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,KCNE2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,KCNE2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ATFB4|LQT5|LQT6|MIRP1;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,potassium_voltage-gated_channel_subfamily_E_regulatory_subunit_2;transcript_id=,NM_172201.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KCNE2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=KCNE2:NM_172201:exon2:c.T170C:p.I57T;cytoBand=21q22.11;genomicSuperDups=.;esp6500siv2_all=0.0004;esp6500siv2_ea=0.0002;esp6500siv2_all=0.0004;esp6500siv2_ea=0.0002;1000g2015aug_all=0.000798722;avsnp147=rs74315448;Kaviar_AF=0.0008603;Kaviar_AC=133;Kaviar_AN=154602;ExAC_ALL=0.0009;ExAC_AFR=0.0002;ExAC_AMR=0.0010;ExAC_EAS=0;ExAC_FIN=0.0002;ExAC_NFE=0.0011;ExAC_OTH=0.0055;ExAC_SAS=0.0009;CLNALLELEID=21093;CLNDN=Cardiac_arrhythmia|Long_QT_syndrome_6|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C0003811,OMIM:115000|MedGen:C3150953,OMIM:613693|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.002;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.918;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.999;MutationTaster_pred=A;MutationAssessor_score=1.5;MutationAssessor_pred=L;FATHMM_score=-3.06;FATHMM_pred=D;PROVEAN_score=-3.39;PROVEAN_pred=D;VEST3_score=0.982;CADD_raw=5.453;CADD_phred=26.1;DANN_score=0.999;fathmm-MKL_coding_score=0.961;fathmm-MKL_coding_pred=D;MetaSVM_score=0.631;MetaSVM_pred=D;MetaLR_score=0.747;MetaLR_pred=D;integrated_fitCons_score=0.549;integrated_confidence_value=0;GERP++_RS=5.66;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=1.061;phastCons7way_vertebrate=0.996;phastCons20way_mammalian=0.994;SiPhy_29way_logOdds=15.564;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=HGMD::Cardiac_arrhythmia#10219239;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM993509#"Cardiac_arrhythmia";gnomAD_exome_ALL=0.0011;gnomAD_exome_AFR=0.0002;gnomAD_exome_AMR=0.0020;gnomAD_exome_ASJ=0.0012;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0011;gnomAD_exome_OTH=0.0035;gnomAD_exome_SAS=0.0010;gnomAD_genome_ALL=0.0002;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0001;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=6 GT:DP:CLCAD2 . . . 1:89:0,46 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 21 35821821 132651;rs1805127 T C 189.78 . #_unique_end_positions=,41;#_unique_start_positions=,34;AC=48;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7247;ALLELEID_clinvar_20171029_hg19=,136399;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6138;AN=48;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001257333.1:p.Ser38Gly|_NP_001121142.1:p.Ser38Gly|_NP_001121141.1:p.Ser38Gly|_NP_001257331.1:p.Ser38Gly|_NP_000210.2:p.Ser38Gly|_NP_001257332.1:p.Ser38Gly|_NP_001121140.1:p.Ser38Gly|_NP_001257334.1:p.Ser38Gly;Amino_acid_change_in_longest_transcript=,NP_000210.2:p.Ser38Gly;BaseQRankSum=,0.41;CAF_dbsnp_common_v150_hg19_refseq=,0.3261|0.6739;CLNDISDB_clinvar_20171029_hg19=,MeSH:D008133|MedGen:C0023976|SNOMED_CT:9651007|MedGen:C0022387|Orphanet:ORPHA90647|SNOMED_CT:373905003|MedGen:C2751629|OMIM:613035|MedGen:CN119492|SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNDN_clinvar_20171029_hg19=,Long_QT_syndrome|Jervell_and_Lange-Nielsen_syndrome|Hearing_loss|_noise-induced|_susceptibility_to|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype|not_provided;CLNHGVS_clinvar_20171029_hg19=,NC_000021.8:g.35821821T>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:29672|UniProtKB_(protein):P15382#VAR_001558;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000219.5:c.112A>G|_NM_001127668.3:c.112A>G|_NM_001127669.3:c.112A>G|_NM_001127670.3:c.112A>G|_NM_001270402.2:c.112A>G|_NM_001270403.2:c.112A>G|_NM_001270404.2:c.112A>G|_NM_001270405.2:c.112A>G;Coding_region_change_in_longest_transcript=,NM_000219.5:c.112A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7083;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6243;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,74;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,KCNE1B:102723475|KCNE1:3753;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:3753;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:3753;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:6240;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:6240;Homo_sapiens_refseq_GRCh37.p13_Genes=,KCNE1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001127670.3|NM_001127669.3|NM_001127668.3|NM_001270405.2|NM_001270403.2|NM_001270404.2|NM_001270402.2|NM_000219.5;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene38543;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna57081|rna57079|rna57080|rna57078|rna57077|rna57075|rna57076|rna57074;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:176261;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:176261;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene38543;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,35821821;RS_dbsnp_common_v150_hg19_refseq=,1805127;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,76;Read_coverage=,188;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9985935139060227;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001127670.3|NM_001127669.3|NM_001127668.3|NM_001270405.2|NM_001270403.2|NM_001270404.2|NM_001270402.2|NM_000219.5;Reverse_read_coverage=,114;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6636;SF=1,3,4,6,7,9,10,11,12,13,14,15,16,18,19,20,21,22,23,24,25,26,27,30,31,33,34,35,36,37,38,39,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,1;TOPMED_dbsnp_common_v150_hg19_refseq=,0.311835|0.688165;TPA_dbsnp_common_v150_hg19_refseq=,TPA;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050378080a0515053f100140;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.744898;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.608333;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.670732;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.755952;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.693182;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.6;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.711111;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.755556;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.63;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.807692;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.585227;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.783333;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.0;db_xref=,GeneID:3753|HGNC:HGNC:6240|MIM:176261;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001127670.3|Genbank:NM_001127669.3|Genbank:NM_001127668.3|Genbank:NM_001270405.2|Genbank:NM_001270403.2|Genbank:NM_001270404.2|Genbank:NM_001270402.2|Genbank:NM_000219.5;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,potassium_voltage-gated_channel_subfamily_E_regulatory_subunit_1;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,KCNE1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,KCNE1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ISK|JLNS|JLNS2|LQT2/5|LQT5|MinK;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,potassium_voltage-gated_channel_subfamily_E_regulatory_subunit_1|_transcript_variant_1|potassium_voltage-gated_channel_subfamily_E_regulatory_subunit_1|_transcript_variant_4|potassium_voltage-gated_channel_subfamily_E_regulatory_subunit_1|_transcript_variant_3|potassium_voltage-gated_channel_subfamily_E_regulatory_subunit_1|_transcript_variant_8|potassium_voltage-gated_channel_subfamily_E_regulatory_subunit_1|_transcript_variant_6|potassium_voltage-gated_channel_subfamily_E_regulatory_subunit_1|_transcript_variant_7|potassium_voltage-gated_channel_subfamily_E_regulatory_subunit_1|_transcript_variant_5|potassium_voltage-gated_channel_subfamily_E_regulatory_subunit_1|_transcript_variant_2;transcript_id=,NM_001127670.3|NM_001127669.3|NM_001127668.3|NM_001270405.2|NM_001270403.2|NM_001270404.2|NM_001270402.2|NM_000219.5;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KCNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=KCNE1:NM_001127670:exon2:c.A112G:p.S38G,KCNE1:NM_001270404:exon2:c.A112G:p.S38G,KCNE1:NM_001127668:exon3:c.A112G:p.S38G,KCNE1:NM_001127669:exon3:c.A112G:p.S38G,KCNE1:NM_001270402:exon3:c.A112G:p.S38G,KCNE1:NM_001270403:exon3:c.A112G:p.S38G,KCNE1:NM_001270405:exon3:c.A112G:p.S38G,KCNE1:NM_000219:exon4:c.A112G:p.S38G;cytoBand=21q22.12;genomicSuperDups=.;esp6500siv2_all=0.6619;esp6500siv2_ea=0.6369;esp6500siv2_all=0.6619;esp6500siv2_ea=0.6369;1000g2015aug_all=0.673922;avsnp147=rs1805127;Kaviar_AF=0.640548;Kaviar_AC=99030;Kaviar_AN=154602;ExAC_ALL=0.6477;ExAC_AFR=0.7107;ExAC_AMR=0.5946;ExAC_EAS=0.7218;ExAC_FIN=0.5624;ExAC_NFE=0.6443;ExAC_OTH=0.6427;ExAC_SAS=0.6549;CLNALLELEID=136399;CLNDN=Long_QT_syndrome|Jervell_and_Lange-Nielsen_syndrome|Hearing_loss,_noise-induced,_susceptibility_to|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0022387,Orphanet:ORPHA90647,SNOMED_CT:373905003|MedGen:C2751629,OMIM:613035|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.401;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.774;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.11;MutationAssessor_pred=N;FATHMM_score=-3.09;FATHMM_pred=D;PROVEAN_score=-0.43;PROVEAN_pred=N;VEST3_score=0.236;CADD_raw=-1.420;CADD_phred=0.003;DANN_score=0.891;fathmm-MKL_coding_score=0.004;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.957;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=0.18;phyloP7way_vertebrate=-0.203;phyloP20way_mammalian=-0.954;phastCons7way_vertebrate=0.009;phastCons20way_mammalian=0.000;SiPhy_29way_logOdds=5.877;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM062783#"Noise-induced_hearing_loss_susceptibility_to_association";gnomAD_exome_ALL=0.6418;gnomAD_exome_AFR=0.7117;gnomAD_exome_AMR=0.5917;gnomAD_exome_ASJ=0.6991;gnomAD_exome_EAS=0.7109;gnomAD_exome_FIN=0.5716;gnomAD_exome_NFE=0.6420;gnomAD_exome_OTH=0.6541;gnomAD_exome_SAS=0.6524;gnomAD_genome_ALL=0.6592;gnomAD_genome_AFR=0.7092;gnomAD_genome_AMR=0.5622;gnomAD_genome_ASJ=0.7133;gnomAD_genome_EAS=0.7323;gnomAD_genome_FIN=0.5809;gnomAD_genome_NFE=0.6458;gnomAD_genome_OTH=0.6429;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . 1:169:0,71 . 1/1:183:0,183 1:115:0,65 . 1/1:116:0,116 1/1:168:0,168 . 1:151:0,86 1:222:0,119 1/1:164:0,164 1/1:172:0,172 1:188:0,102 1:241:0,123 1:161:0,91 1/1:195:0,195 . 1:146:0,72 1/1:146:0,146 1/1:157:0,157 1:227:0,92 1/1:242:0,242 1/1:234:0,234 1/1:240:0,240 1:131:0,60 1:149:0,86 1:235:0,128 . . 1:223:0,102 1:126:0,49 . 1:150:0,79 1/1:179:0,179 1/1:171:0,171 1:135:0,78 1:133:0,62 1/1:113:0,113 1/1:200:0,200 . 1:133:0,69 21 35821833 . A G 200.00 . #_unique_end_positions=,48;#_unique_start_positions=,40;AC=1;AN=1;Amino_acid_change=,NP_001257331.1:p.Ser34Pro|_NP_001257333.1:p.Ser34Pro|_NP_001121142.1:p.Ser34Pro|_NP_001121141.1:p.Ser34Pro|_NP_001257334.1:p.Ser34Pro|_NP_001121140.1:p.Ser34Pro|_NP_001257332.1:p.Ser34Pro|_NP_000210.2:p.Ser34Pro;Amino_acid_change_in_longest_transcript=,NP_000210.2:p.Ser34Pro;BaseQRankSum=,0.1;Coding_region_change=,NM_000219.5:c.100T>C|_NM_001127668.3:c.100T>C|_NM_001127669.3:c.100T>C|_NM_001127670.3:c.100T>C|_NM_001270402.2:c.100T>C|_NM_001270403.2:c.100T>C|_NM_001270404.2:c.100T>C|_NM_001270405.2:c.100T>C;Coding_region_change_in_longest_transcript=,NM_000219.5:c.100T>C;Forward_read_coverage=,80;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:3753;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:3753;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:6240;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:6240;Homo_sapiens_refseq_GRCh37.p13_Genes=,KCNE1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001127670.3|NM_001127669.3|NM_001127668.3|NM_001270405.2|NM_001270403.2|NM_001270404.2|NM_001270402.2|NM_000219.5;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene38543;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna57081|rna57079|rna57080|rna57078|rna57077|rna57075|rna57076|rna57074;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:176261;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:176261;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene38543;QUAL=,200.0;Read_count=,81;Read_coverage=,179;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.7166589992794131;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001127670.3|NM_001127669.3|NM_001127668.3|NM_001270405.2|NM_001270403.2|NM_001270404.2|NM_001270402.2|NM_000219.5;Reverse_read_coverage=,99;SF=34;conservation_score=,0.057;db_xref=,GeneID:3753|HGNC:HGNC:6240|MIM:176261;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001127670.3|Genbank:NM_001127669.3|Genbank:NM_001127668.3|Genbank:NM_001270405.2|Genbank:NM_001270403.2|Genbank:NM_001270404.2|Genbank:NM_001270402.2|Genbank:NM_000219.5;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,potassium_voltage-gated_channel_subfamily_E_regulatory_subunit_1;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,KCNE1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,KCNE1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ISK|JLNS|JLNS2|LQT2/5|LQT5|MinK;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,potassium_voltage-gated_channel_subfamily_E_regulatory_subunit_1|_transcript_variant_1|potassium_voltage-gated_channel_subfamily_E_regulatory_subunit_1|_transcript_variant_4|potassium_voltage-gated_channel_subfamily_E_regulatory_subunit_1|_transcript_variant_3|potassium_voltage-gated_channel_subfamily_E_regulatory_subunit_1|_transcript_variant_8|potassium_voltage-gated_channel_subfamily_E_regulatory_subunit_1|_transcript_variant_6|potassium_voltage-gated_channel_subfamily_E_regulatory_subunit_1|_transcript_variant_7|potassium_voltage-gated_channel_subfamily_E_regulatory_subunit_1|_transcript_variant_5|potassium_voltage-gated_channel_subfamily_E_regulatory_subunit_1|_transcript_variant_2;transcript_id=,NM_001127670.3|NM_001127669.3|NM_001127668.3|NM_001270405.2|NM_001270403.2|NM_001270404.2|NM_001270402.2|NM_000219.5;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KCNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=KCNE1:NM_001127670:exon2:c.T100C:p.S34P,KCNE1:NM_001270404:exon2:c.T100C:p.S34P,KCNE1:NM_001127668:exon3:c.T100C:p.S34P,KCNE1:NM_001127669:exon3:c.T100C:p.S34P,KCNE1:NM_001270402:exon3:c.T100C:p.S34P,KCNE1:NM_001270403:exon3:c.T100C:p.S34P,KCNE1:NM_001270405:exon3:c.T100C:p.S34P,KCNE1:NM_000219:exon4:c.T100C:p.S34P;cytoBand=21q22.12;genomicSuperDups=.;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=7.7e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=.;avsnp147=rs376479233;Kaviar_AF=1.94e-05;Kaviar_AC=3;Kaviar_AN=154602;ExAC_ALL=2.479e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=4.513e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.004;Polyphen2_HVAR_pred=B;LRT_score=0.096;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=2.08;MutationAssessor_pred=M;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=0.448;CADD_raw=1.577;CADD_phred=13.72;DANN_score=0.974;fathmm-MKL_coding_score=0.075;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.438;MetaSVM_pred=T;MetaLR_score=0.610;MetaLR_pred=D;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=-3.06;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=0.785;phastCons7way_vertebrate=0.004;phastCons20way_mammalian=0.277;SiPhy_29way_logOdds=1.240;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=1.219e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=2.688e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:167:0,76 . . . . . . . 21 35821849 178611;rs17173510 C T 200.00 . #_unique_end_positions=,59;#_unique_start_positions=,46;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;AF_ESP_clinvar_20171029_hg19=,0.0042;AF_EXAC_clinvar_20171029_hg19=,0.00362;AF_TGP_clinvar_20171029_hg19=,0.0038;ALLELEID_clinvar_20171029_hg19=,176235;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0144;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.1;CAF_dbsnp_common_v150_hg19_refseq=,0.9962|0.003794;CLNDISDB_clinvar_20171029_hg19=,MeSH:D008133|MedGen:C0023976|SNOMED_CT:9651007|MedGen:C0022387|Orphanet:ORPHA90647|SNOMED_CT:373905003|MedGen:CN119492|SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736;CLNDN_clinvar_20171029_hg19=,Long_QT_syndrome|Jervell_and_Lange-Nielsen_syndrome|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype;CLNHGVS_clinvar_20171029_hg19=,NC_000021.8:g.35821849C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:270247;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000219.5:c.84G>A|_NM_001127668.3:c.84G>A|_NM_001127669.3:c.84G>A|_NM_001127670.3:c.84G>A|_NM_001270402.2:c.84G>A|_NM_001270403.2:c.84G>A|_NM_001270404.2:c.84G>A|_NM_001270405.2:c.84G>A;Coding_region_change_in_longest_transcript=,NM_000219.5:c.84G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0089;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,59;GENEINFO_dbsnp_common_v150_hg19_refseq=,KCNE1B:102723475|KCNE1:3753;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:3753;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:3753;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:6240;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:6240;Homo_sapiens_refseq_GRCh37.p13_Genes=,KCNE1;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001127670.3|NM_001127669.3|NM_001127668.3|NM_001270405.2|NM_001270403.2|NM_001270404.2|NM_001270402.2|NM_000219.5;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene38543;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna57081|rna57079|rna57080|rna57078|rna57077|rna57075|rna57076|rna57074;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:176261;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:176261;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene38543;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,35821849;RS_dbsnp_common_v150_hg19_refseq=,17173510;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,80;Read_coverage=,138;Read_direction_test_probability=,0.9711828044073707;Read_position_test_probability=,0.8773864680185725;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001127670.3|NM_001127669.3|NM_001127668.3|NM_001270405.2|NM_001270403.2|NM_001270404.2|NM_001270402.2|NM_000219.5;Reverse_read_coverage=,79;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=6;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.997356|0.00264441;TPA_dbsnp_common_v150_hg19_refseq=,TPA;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05033808030504003e000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.0;db_xref=,GeneID:3753|HGNC:HGNC:6240|MIM:176261;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001127670.3|Genbank:NM_001127669.3|Genbank:NM_001127668.3|Genbank:NM_001270405.2|Genbank:NM_001270403.2|Genbank:NM_001270404.2|Genbank:NM_001270402.2|Genbank:NM_000219.5;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,potassium_voltage-gated_channel_subfamily_E_regulatory_subunit_1;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,KCNE1;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,KCNE1;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,ISK|JLNS|JLNS2|LQT2/5|LQT5|MinK;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,potassium_voltage-gated_channel_subfamily_E_regulatory_subunit_1|_transcript_variant_1|potassium_voltage-gated_channel_subfamily_E_regulatory_subunit_1|_transcript_variant_4|potassium_voltage-gated_channel_subfamily_E_regulatory_subunit_1|_transcript_variant_3|potassium_voltage-gated_channel_subfamily_E_regulatory_subunit_1|_transcript_variant_8|potassium_voltage-gated_channel_subfamily_E_regulatory_subunit_1|_transcript_variant_6|potassium_voltage-gated_channel_subfamily_E_regulatory_subunit_1|_transcript_variant_7|potassium_voltage-gated_channel_subfamily_E_regulatory_subunit_1|_transcript_variant_5|potassium_voltage-gated_channel_subfamily_E_regulatory_subunit_1|_transcript_variant_2;transcript_id=,NM_001127670.3|NM_001127669.3|NM_001127668.3|NM_001270405.2|NM_001270403.2|NM_001270404.2|NM_001270402.2|NM_000219.5;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KCNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCNE1:NM_001127670:exon2:c.G84A:p.S28S,KCNE1:NM_001270404:exon2:c.G84A:p.S28S,KCNE1:NM_001127668:exon3:c.G84A:p.S28S,KCNE1:NM_001127669:exon3:c.G84A:p.S28S,KCNE1:NM_001270402:exon3:c.G84A:p.S28S,KCNE1:NM_001270403:exon3:c.G84A:p.S28S,KCNE1:NM_001270405:exon3:c.G84A:p.S28S,KCNE1:NM_000219:exon4:c.G84A:p.S28S;cytoBand=21q22.12;genomicSuperDups=.;esp6500siv2_all=0.0042;esp6500siv2_ea=0.0056;esp6500siv2_all=0.0042;esp6500siv2_ea=0.0056;1000g2015aug_all=0.00379393;avsnp147=rs17173510;Kaviar_AF=0.0039003;Kaviar_AC=603;Kaviar_AN=154602;ExAC_ALL=0.0036;ExAC_AFR=0.0012;ExAC_AMR=0.0051;ExAC_EAS=0.0006;ExAC_FIN=0.0024;ExAC_NFE=0.0051;ExAC_OTH=0.0033;ExAC_SAS=6.058e-05;CLNALLELEID=176235;CLNDN=Long_QT_syndrome|Jervell_and_Lange-Nielsen_syndrome|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0022387,Orphanet:ORPHA90647,SNOMED_CT:373905003|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0036;gnomAD_exome_AFR=0.0010;gnomAD_exome_AMR=0.0048;gnomAD_exome_ASJ=0.0001;gnomAD_exome_EAS=0.0007;gnomAD_exome_FIN=0.0021;gnomAD_exome_NFE=0.0055;gnomAD_exome_OTH=0.0044;gnomAD_exome_SAS=6.498e-05;gnomAD_genome_ALL=0.0032;gnomAD_genome_AFR=0.0011;gnomAD_genome_AMR=0.0036;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0020;gnomAD_genome_NFE=0.0049;gnomAD_genome_OTH=0.0061;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:DP:CLCAD2 . . . . . . 1:132:0,77 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 22 19867771 263385;rs1139795 C T 194.23 . #_unique_end_positions=,24;#_unique_start_positions=,23;AC=12;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6415;AF_ESP_clinvar_20171029_hg19=,0.2919;AF_EXAC_clinvar_20171029_hg19=,0.18532;AF_TGP_clinvar_20171029_hg19=,0.2692;ALLELEID_clinvar_20171029_hg19=,259119;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1729;AN=12;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.7308|0.2692;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374|MedGen:CN230736;CLNDN_clinvar_20171029_hg19=,not_specified|Cardiovascular_phenotype;CLNHGVS_clinvar_20171029_hg19=,NC_000022.10:g.19867771C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_006440.4:c.1206G>A;Coding_region_change_in_longest_transcript=,NM_006440.4:c.1206G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0327;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1581;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,34;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TXNRD2:10587;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:10587;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:10587;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:18155;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:18155;Homo_sapiens_refseq_GRCh37.p13_Genes=,TXNRD2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_006440.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene38905;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna57661;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:606448;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:606448;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene38905;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,19867771;RS_dbsnp_common_v150_hg19_refseq=,1139795;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,34;Read_coverage=,79;Read_direction_test_probability=,0.8191362249914605;Read_position_test_probability=,0.5650243442149254;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_006440.4;Reverse_read_coverage=,45;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1922;SF=7,11,13,14,15,20,23,25,29,35,38;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.660599|0.339401;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05030000030515053e000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.108;db_xref=,GeneID:10587|HGNC:HGNC:18155|MIM:606448;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:18519|HPRD:05921;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_006440.4|HPRD:18519|HPRD:05921;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,thioredoxin_reductase_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TXNRD2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TXNRD2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SELZ|TR|TR-BETA|TR3|TRXR2;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,thioredoxin_reductase_2|_transcript_variant_1;transcript_id=,NM_006440.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TXNRD2;GeneDetail.refGene=.;ExonicFunc.refGene=unknown;AAChange.refGene=UNKNOWN;cytoBand=22q11.21;genomicSuperDups=.;esp6500siv2_all=0.2919;esp6500siv2_ea=0.1615;esp6500siv2_all=0.2919;esp6500siv2_ea=0.1615;1000g2015aug_all=0.269169;avsnp147=rs1139795;Kaviar_AF=0.180043;Kaviar_AC=27835;Kaviar_AN=154602;ExAC_ALL=0.1853;ExAC_AFR=0.5661;ExAC_AMR=0.1439;ExAC_EAS=0.0323;ExAC_FIN=0.0962;ExAC_NFE=0.1620;ExAC_OTH=0.1852;ExAC_SAS=0.1949;CLNALLELEID=259119;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-2.0958;dpsi_zscore=-1.931;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1751;gnomAD_exome_AFR=0.5660;gnomAD_exome_AMR=0.1472;gnomAD_exome_ASJ=0.2005;gnomAD_exome_EAS=0.0292;gnomAD_exome_FIN=0.0905;gnomAD_exome_NFE=0.1619;gnomAD_exome_OTH=0.1838;gnomAD_exome_SAS=0.1922;gnomAD_genome_ALL=0.2499;gnomAD_genome_AFR=0.5430;gnomAD_genome_AMR=0.1527;gnomAD_genome_ASJ=0.2384;gnomAD_genome_EAS=0.0241;gnomAD_genome_FIN=0.0948;gnomAD_genome_NFE=0.1510;gnomAD_genome_OTH=0.1687;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . 1:70:0,29 . . . 1:98:0,54 . 1:101:0,49 1:130:0,64 1:89:0,53 . . . . 1:84:0,37 . . 1:108:0,54 . 1:98:0,50 . . . 1:128:0,60 . . . . . 1/1:90:0,90 . . 1:70:0,25 . . . 22 19868218 263369;rs1139793 A G 192.79 . #_unique_end_positions=,24;#_unique_start_positions=,22;AC=65;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.9516;ALLELEID_clinvar_20171029_hg19=,259118;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6239;AN=65;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_006431.2:p.Ile370Thr;Amino_acid_change_in_longest_transcript=,NP_006431.2:p.Ile370Thr;BaseQRankSum=,-0.22;CAF_dbsnp_common_v150_hg19_refseq=,0.2817|0.7183;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374|MedGen:CN230736;CLNDN_clinvar_20171029_hg19=,not_specified|Cardiovascular_phenotype;CLNHGVS_clinvar_20171029_hg19=,NC_000022.10:g.19868218A>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_006440.4:c.1109T>C;Coding_region_change_in_longest_transcript=,NM_006440.4:c.1109T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6230;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7217;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,32;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TXNRD2:10587;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:10587;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:10587;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:18155;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:18155;Homo_sapiens_refseq_GRCh37.p13_Genes=,TXNRD2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_006440.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene38905;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna57661;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:606448;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:606448;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene38905;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,19868218;RS_dbsnp_common_v150_hg19_refseq=,1139793;Read_count=,41;Read_coverage=,78;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9540523808281115;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_006440.4;Reverse_read_coverage=,46;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5644;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.177669|0.822331;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050328000a0515053f000101;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.918367;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.677966;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.719512;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.611765;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.585227;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.588889;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.6;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.948864;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.653061;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.942857;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.770115;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.983333;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.763;db_xref=,GeneID:10587|HGNC:HGNC:18155|MIM:606448;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:18519|HPRD:05921;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_006440.4|HPRD:18519|HPRD:05921;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,thioredoxin_reductase_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TXNRD2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TXNRD2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SELZ|TR|TR-BETA|TR3|TRXR2;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,thioredoxin_reductase_2|_transcript_variant_1;transcript_id=,NM_006440.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TXNRD2;GeneDetail.refGene=.;ExonicFunc.refGene=unknown;AAChange.refGene=UNKNOWN;cytoBand=22q11.21;genomicSuperDups=.;esp6500siv2_all=0.7961;esp6500siv2_ea=0.7377;esp6500siv2_all=0.7961;esp6500siv2_ea=0.7377;1000g2015aug_all=0.718251;avsnp147=rs1139793;Kaviar_AF=0.69829;Kaviar_AC=107957;Kaviar_AN=154602;ExAC_ALL=0.7012;ExAC_AFR=0.9150;ExAC_AMR=0.5511;ExAC_EAS=0.6030;ExAC_FIN=0.6915;ExAC_NFE=0.7400;ExAC_OTH=0.6950;ExAC_SAS=0.5808;CLNALLELEID=259118;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.271;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=0.997;MutationTaster_pred=P;MutationAssessor_score=-1.14;MutationAssessor_pred=N;FATHMM_score=0.55;FATHMM_pred=T;PROVEAN_score=-1.35;PROVEAN_pred=N;VEST3_score=0.111;CADD_raw=2.110;CADD_phred=16.92;DANN_score=0.780;fathmm-MKL_coding_score=0.035;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.981;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.733;integrated_confidence_value=0;GERP++_RS=5.38;phyloP7way_vertebrate=-0.177;phyloP20way_mammalian=0.135;phastCons7way_vertebrate=0.740;phastCons20way_mammalian=0.106;SiPhy_29way_logOdds=13.614;GDI_full_10282015=.;dpsi_max_tissue=-0.2286;dpsi_zscore=-0.740;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.6915;gnomAD_exome_AFR=0.9204;gnomAD_exome_AMR=0.5612;gnomAD_exome_ASJ=0.7683;gnomAD_exome_EAS=0.5926;gnomAD_exome_FIN=0.6864;gnomAD_exome_NFE=0.7391;gnomAD_exome_OTH=0.7085;gnomAD_exome_SAS=0.5794;gnomAD_genome_ALL=0.7663;gnomAD_genome_AFR=0.9145;gnomAD_genome_AMR=0.6244;gnomAD_genome_ASJ=0.7914;gnomAD_genome_EAS=0.5772;gnomAD_genome_FIN=0.6794;gnomAD_genome_NFE=0.7310;gnomAD_genome_OTH=0.7177;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:63:0,31 1:91:0,46 1/1:63:0,63 1/1:99:0,99 1/1:64:0,63 1:86:0,47 1:76:0,43 1/1:76:0,76 1/1:102:0,102 1:88:0,45 1/1:112:0,111 1:98:0,52 1:122:0,60 1/1:91:0,91 1/1:140:0,140 1/1:92:0,92 1:112:0,54 1/1:119:0,119 . 1/1:80:0,80 1:87:0,39 1:116:0,57 1/1:166:0,166 1:123:0,66 1/1:100:0,100 1/1:88:0,88 1/1:76:0,76 1:115:0,58 1/1:98:0,98 1:120:0,73 1/1:101:0,101 1/1:56:0,56 1/1:82:0,82 1/1:87:0,87 1/1:88:0,88 1/1:87:0,87 1/1:92:0,92 1:76:0,46 1:76:0,38 1:106:0,54 1/1:96:0,96 1:79:0,43 22 19868228 263358;rs35544159 G A 200.00 . #_unique_end_positions=,25;#_unique_start_positions=,28;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0545;AF_ESP_clinvar_20171029_hg19=,0.0179;AF_EXAC_clinvar_20171029_hg19=,0.00709;AF_TGP_clinvar_20171029_hg19=,0.0170;ALLELEID_clinvar_20171029_hg19=,259128;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0130;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.21;CAF_dbsnp_common_v150_hg19_refseq=,0.983|0.01697;CLNDISDB_clinvar_20171029_hg19=,MedGen:C0007193|Orphanet:ORPHA217604|SNOMED_CT:195021004|MedGen:CN169374|MedGen:CN230736;CLNDN_clinvar_20171029_hg19=,Primary_dilated_cardiomyopathy|not_specified|Cardiovascular_phenotype;CLNHGVS_clinvar_20171029_hg19=,NC_000022.10:g.19868228G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_006440.4:c.1099C>T;Coding_region_change_in_longest_transcript=,NM_006440.4:c.1099C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0040;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,30;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TXNRD2:10587;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:10587;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:10587;Genotype=,A/G;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:18155;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:18155;Homo_sapiens_refseq_GRCh37.p13_Genes=,TXNRD2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_006440.4;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene38905;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna57661;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:606448;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:606448;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene38905;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,19868228;RS_dbsnp_common_v150_hg19_refseq=,35544159;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,42;Read_coverage=,79;Read_direction_test_probability=,0.8621881052966902;Read_position_test_probability=,0.8000585860327909;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_006440.4;Reverse_read_coverage=,49;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0000;SF=7;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.979221|0.020779;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050300000305150136000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:10587|HGNC:HGNC:18155|MIM:606448;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:18519|HPRD:05921;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_006440.4|HPRD:18519|HPRD:05921;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,thioredoxin_reductase_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TXNRD2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TXNRD2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SELZ|TR|TR-BETA|TR3|TRXR2;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,thioredoxin_reductase_2|_transcript_variant_1;transcript_id=,NM_006440.4;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TXNRD2;GeneDetail.refGene=.;ExonicFunc.refGene=unknown;AAChange.refGene=UNKNOWN;cytoBand=22q11.21;genomicSuperDups=.;esp6500siv2_all=0.0179;esp6500siv2_ea=0.0044;esp6500siv2_all=0.0179;esp6500siv2_ea=0.0044;1000g2015aug_all=0.0169728;avsnp147=rs35544159;Kaviar_AF=0.006811;Kaviar_AC=1053;Kaviar_AN=154602;ExAC_ALL=0.0071;ExAC_AFR=0.0478;ExAC_AMR=0.0067;ExAC_EAS=0;ExAC_FIN=0.0002;ExAC_NFE=0.0044;ExAC_OTH=0.0035;ExAC_SAS=0.0007;CLNALLELEID=259128;CLNDN=Primary_dilated_cardiomyopathy|not_specified|Cardiovascular_phenotype;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.2662;dpsi_zscore=-0.802;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0066;gnomAD_exome_AFR=0.0474;gnomAD_exome_AMR=0.0066;gnomAD_exome_ASJ=0.0147;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0006;gnomAD_exome_NFE=0.0039;gnomAD_exome_OTH=0.0083;gnomAD_exome_SAS=0.0008;gnomAD_genome_ALL=0.0123;gnomAD_genome_AFR=0.0387;gnomAD_genome_AMR=0.0060;gnomAD_genome_ASJ=0.0167;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0.0021;gnomAD_genome_OTH=0.0051;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-10 GT:DP:CLCAD2 . . . . . . . 1:66:0,33 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 22 19882984 263411;rs5992495 T G 200.00 . #_unique_end_positions=,60;#_unique_start_positions=,55;AC=13;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5507;AF_ESP_clinvar_20171029_hg19=,0.2709;AF_EXAC_clinvar_20171029_hg19=,0.18788;AF_TGP_clinvar_20171029_hg19=,0.2512;ALLELEID_clinvar_20171029_hg19=,259130;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1599;AN=13;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001269441.1:p.Ser299Arg|_NP_006431.2:p.Ser299Arg;Amino_acid_change_in_longest_transcript=,NP_006431.2:p.Ser299Arg;BaseQRankSum=,0.1;CAF_dbsnp_common_v150_hg19_refseq=,0.7488|0.2512;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374|MedGen:CN230736;CLNDN_clinvar_20171029_hg19=,not_specified|Cardiovascular_phenotype;CLNHGVS_clinvar_20171029_hg19=,NC_000022.10:g.19882984T>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001282512.1:c.895A>C|_NM_006440.4:c.895A>C;Coding_region_change_in_longest_transcript=,NM_006440.4:c.895A>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0516;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1730;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,121;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TXNRD2:10587;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:10587;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:10587;Genotype=,G/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:18155;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:18155;Homo_sapiens_refseq_GRCh37.p13_Genes=,TXNRD2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_006440.4|NM_001282512.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene38905;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna57661|rna57662;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:606448;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:606448;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene38905;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,19882984;RS_dbsnp_common_v150_hg19_refseq=,5992495;Read_count=,111;Read_coverage=,223;Read_direction_test_probability=,0.9754633003219462;Read_position_test_probability=,0.6327912540234963;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_006440.4|NM_001282512.1;Reverse_read_coverage=,102;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1973;SF=1,5,6,7,10,14,15,18,23,25,27,35,38;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.68203|0.31797;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050328000a0515053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.479592;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.20354;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.0731707;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.0588235;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.272727;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0465116;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0411765;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.61236;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.11;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.485816;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.125;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.65;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.002;db_xref=,GeneID:10587|HGNC:HGNC:18155|MIM:606448;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:18519|HPRD:05921;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_006440.4|HPRD:18519|HPRD:05921|Genbank:NM_001282512.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,thioredoxin_reductase_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TXNRD2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TXNRD2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SELZ|TR|TR-BETA|TR3|TRXR2;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,thioredoxin_reductase_2|_transcript_variant_1|thioredoxin_reductase_2|_transcript_variant_2;transcript_id=,NM_006440.4|NM_001282512.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TXNRD2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TXNRD2:NM_001282512:exon11:c.A895C:p.S299R;cytoBand=22q11.21;genomicSuperDups=.;esp6500siv2_all=0.2709;esp6500siv2_ea=0.1662;esp6500siv2_all=0.2709;esp6500siv2_ea=0.1662;1000g2015aug_all=0.251198;avsnp147=rs5992495;Kaviar_AF=0.185929;Kaviar_AC=28745;Kaviar_AN=154602;ExAC_ALL=0.1879;ExAC_AFR=0.5139;ExAC_AMR=0.1389;ExAC_EAS=0.0655;ExAC_FIN=0.1259;ExAC_NFE=0.1665;ExAC_OTH=0.1778;ExAC_SAS=0.2041;CLNALLELEID=259130;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.495;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_pred=B;LRT_score=0.134;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=1.2;FATHMM_pred=T;PROVEAN_score=-0.64;PROVEAN_pred=N;VEST3_score=0.142;CADD_raw=-1.829;CADD_phred=0.002;DANN_score=0.245;fathmm-MKL_coding_score=0.017;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.952;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.706;integrated_confidence_value=0;GERP++_RS=-2.79;phyloP7way_vertebrate=-0.767;phyloP20way_mammalian=-2.460;phastCons7way_vertebrate=0.019;phastCons20way_mammalian=0.000;SiPhy_29way_logOdds=3.766;GDI_full_10282015=.;dpsi_max_tissue=0.2281;dpsi_zscore=0.775;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1790;gnomAD_exome_AFR=0.5226;gnomAD_exome_AMR=0.1379;gnomAD_exome_ASJ=0.1877;gnomAD_exome_EAS=0.0634;gnomAD_exome_FIN=0.1186;gnomAD_exome_NFE=0.1666;gnomAD_exome_OTH=0.1752;gnomAD_exome_SAS=0.2041;gnomAD_genome_ALL=0.2514;gnomAD_genome_AFR=0.5162;gnomAD_genome_AMR=0.1256;gnomAD_genome_ASJ=0.1933;gnomAD_genome_EAS=0.0580;gnomAD_genome_FIN=0.1348;gnomAD_genome_NFE=0.1572;gnomAD_genome_OTH=0.2002;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . 1:199:0,97 . . . 1:258:0,131 1:155:0,76 1:167:0,87 . . 1:240:0,103 . . . 1:274:0,145 1:206:0,106 . . 1:165:0,86 . . . . 1:268:0,139 . 1:175:0,79 . 1:260:0,122 . . . . . . . 1:205:0,102 . . 1:177:0,92 . . . 22 19906511 263409;rs11541479 G A 200.00 . #_unique_end_positions=,36;#_unique_start_positions=,34;AC=11;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3661;AF_ESP_clinvar_20171029_hg19=,0.2113;AF_EXAC_clinvar_20171029_hg19=,0.14628;AF_TGP_clinvar_20171029_hg19=,0.1681;ALLELEID_clinvar_20171029_hg19=,259140;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1167;AN=11;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.29;CAF_dbsnp_common_v150_hg19_refseq=,0.8319|0.1681;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374|MedGen:CN230736;CLNDN_clinvar_20171029_hg19=,not_specified|Cardiovascular_phenotype;CLNHGVS_clinvar_20171029_hg19=,NC_000022.10:g.19906511G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001282512.1:c.246C>T|_NM_006440.4:c.246C>T;Coding_region_change_in_longest_transcript=,NM_006440.4:c.246C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0129;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1531;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,21;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TXNRD2:10587;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:10587;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:10587;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:18155;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:18155;Homo_sapiens_refseq_GRCh37.p13_Genes=,TXNRD2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_006440.4|NM_001282512.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene38905;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna57661|rna57662;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:606448;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:606448;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene38905;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,19906511;RS_dbsnp_common_v150_hg19_refseq=,11541479;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,63;Read_coverage=,102;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9655500319415887;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_006440.4|NM_001282512.1;Reverse_read_coverage=,81;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1125;SF=1,5,6,10,14,15,18,23,27,35,38;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.761952|0.238048;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05030000030515053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.397959;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.183036;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.0365854;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.0176471;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.130682;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0174419;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.344444;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.08;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.25;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.130682;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.39823;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.833;db_xref=,GeneID:10587|HGNC:HGNC:18155|MIM:606448;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:18519|HPRD:05921;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_006440.4|HPRD:18519|HPRD:05921|Genbank:NM_001282512.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,thioredoxin_reductase_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TXNRD2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TXNRD2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SELZ|TR|TR-BETA|TR3|TRXR2;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,thioredoxin_reductase_2|_transcript_variant_1|thioredoxin_reductase_2|_transcript_variant_2;transcript_id=,NM_006440.4|NM_001282512.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TXNRD2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TXNRD2:NM_001282512:exon4:c.C246T:p.L82L;cytoBand=22q11.21;genomicSuperDups=.;esp6500siv2_all=0.2113;esp6500siv2_ea=0.1476;esp6500siv2_all=0.2113;esp6500siv2_ea=0.1476;1000g2015aug_all=0.168131;avsnp147=rs11541479;Kaviar_AF=0.141783;Kaviar_AC=21920;Kaviar_AN=154602;ExAC_ALL=0.1463;ExAC_AFR=0.3763;ExAC_AMR=0.0842;ExAC_EAS=0.0126;ExAC_FIN=0.1250;ExAC_NFE=0.1510;ExAC_OTH=0.1578;ExAC_SAS=0.1154;CLNALLELEID=259140;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.2325;dpsi_zscore=-0.746;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1355;gnomAD_exome_AFR=0.3716;gnomAD_exome_AMR=0.0831;gnomAD_exome_ASJ=0.1627;gnomAD_exome_EAS=0.0116;gnomAD_exome_FIN=0.1131;gnomAD_exome_NFE=0.1457;gnomAD_exome_OTH=0.1472;gnomAD_exome_SAS=0.1135;gnomAD_genome_ALL=0.1985;gnomAD_genome_AFR=0.3737;gnomAD_genome_AMR=0.0885;gnomAD_genome_ASJ=0.1457;gnomAD_genome_EAS=0.0100;gnomAD_genome_FIN=0.1289;gnomAD_genome_NFE=0.1431;gnomAD_genome_OTH=0.1612;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . 1:91:0,55 . . . 1:114:0,57 1:97:0,52 . . . 1:135:0,67 . . . 1:163:0,87 1:107:0,53 . . 1:101:0,52 . . . . 1:154:0,74 . . . 1:110:0,46 . . . . . . . 1:103:0,49 . . 1:102:0,42 . . . 22 19907099 263343;rs5748469 C A 188.66 . #_unique_end_positions=,22;#_unique_start_positions=,21;AC=31;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2171;AF_ESP_clinvar_20171029_hg19=,0.2956;AF_EXAC_clinvar_20171029_hg19=,0.44449;AF_TGP_clinvar_20171029_hg19=,0.4830;ALLELEID_clinvar_20171029_hg19=,259137;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5346;AN=31;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_001269441.1:p.Ala66Ser|_NP_006431.2:p.Ala66Ser;Amino_acid_change_in_longest_transcript=,NP_006431.2:p.Ala66Ser;BaseQRankSum=,0.21;CAF_dbsnp_common_v150_hg19_refseq=,0.517|0.483;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374|MedGen:CN230736;CLNDN_clinvar_20171029_hg19=,not_specified|Cardiovascular_phenotype;CLNHGVS_clinvar_20171029_hg19=,NC_000022.10:g.19907099C>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001282512.1:c.196G>T|_NM_006440.4:c.196G>T;Coding_region_change_in_longest_transcript=,NM_006440.4:c.196G>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.8690;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3549;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,34;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TXNRD2:10587;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:10587;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:10587;Genotype=,A/C;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:18155;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:18155;Homo_sapiens_refseq_GRCh37.p13_Genes=,TXNRD2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_006440.4|NM_001282512.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene38905;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna57661|rna57662;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:606448;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:606448;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene38905;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,19907099;RS_dbsnp_common_v150_hg19_refseq=,5748469;Read_count=,33;Read_coverage=,74;Read_direction_test_probability=,0.6403941701719256;Read_position_test_probability=,0.818882111781061;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_006440.4|NM_001282512.1;Reverse_read_coverage=,40;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5399;SF=0,1,2,5,6,7,8,9,11,15,16,17,18,19,21,22,25,26,31,32,33,36,37,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.677806|0.322194;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050328080a0517053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.265306;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.325893;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.878049;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.882353;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.460227;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.848837;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.848837;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.255556;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.612245;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.200704;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.366279;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.209091;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:10587|HGNC:HGNC:18155|MIM:606448;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:18519|HPRD:05921;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_006440.4|HPRD:18519|HPRD:05921|Genbank:NM_001282512.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,thioredoxin_reductase_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TXNRD2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TXNRD2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SELZ|TR|TR-BETA|TR3|TRXR2;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,thioredoxin_reductase_2|_transcript_variant_1|thioredoxin_reductase_2|_transcript_variant_2;transcript_id=,NM_006440.4|NM_001282512.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TXNRD2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TXNRD2:NM_001282512:exon3:c.G196T:p.A66S;cytoBand=22q11.21;genomicSuperDups=.;esp6500siv2_all=0.2956;esp6500siv2_ea=0.3312;esp6500siv2_all=0.2956;esp6500siv2_ea=0.3312;1000g2015aug_all=0.483027;avsnp147=rs5748469;Kaviar_AF=0.309356;Kaviar_AC=47827;Kaviar_AN=154602;ExAC_ALL=0.4445;ExAC_AFR=0.2673;ExAC_AMR=0.5702;ExAC_EAS=0.7942;ExAC_FIN=0.4653;ExAC_NFE=0.4078;ExAC_OTH=0.5167;ExAC_SAS=0.4973;CLNALLELEID=259137;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.069;SIFT_pred=T;Polyphen2_HDIV_score=0.997;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.99;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.001;MutationTaster_pred=P;MutationAssessor_score=4.24;MutationAssessor_pred=H;FATHMM_score=0.7;FATHMM_pred=T;PROVEAN_score=-1.95;PROVEAN_pred=N;VEST3_score=0.194;CADD_raw=6.178;CADD_phred=28.6;DANN_score=0.996;fathmm-MKL_coding_score=0.959;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.955;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.706;integrated_confidence_value=0;GERP++_RS=3.96;phyloP7way_vertebrate=0.033;phyloP20way_mammalian=0.852;phastCons7way_vertebrate=0.028;phastCons20way_mammalian=0.975;SiPhy_29way_logOdds=15.975;GDI_full_10282015=.;dpsi_max_tissue=-0.5891;dpsi_zscore=-1.176;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.4468;gnomAD_exome_AFR=0.2220;gnomAD_exome_AMR=0.6137;gnomAD_exome_ASJ=0.4187;gnomAD_exome_EAS=0.8557;gnomAD_exome_FIN=0.4735;gnomAD_exome_NFE=0.3327;gnomAD_exome_OTH=0.4239;gnomAD_exome_SAS=0.5044;gnomAD_genome_ALL=0.3842;gnomAD_genome_AFR=0.2403;gnomAD_genome_AMR=0.6127;gnomAD_genome_ASJ=0.4536;gnomAD_genome_EAS=0.8759;gnomAD_genome_FIN=0.4773;gnomAD_genome_NFE=0.3772;gnomAD_genome_OTH=0.4131;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=1 GT:DP:CLCAD2 1:54:0,24 1:65:0,38 1/1:75:0,75 . . 1:97:0,35 1:50:0,28 1:76:0,39 1:98:0,40 1:78:0,39 . 1:84:0,33 . . . 1:80:0,32 1/1:86:0,86 1/1:103:0,103 1:71:0,31 1:76:0,30 . 1:125:0,62 1:148:0,68 . . 1:77:0,29 1:70:0,23 . . . . 1:63:0,29 1:94:0,42 1:69:0,27 . . 1:70:0,39 1:65:0,23 . 1:106:0,46 1/1:85:0,85 1/1:76:0,76 22 19907118 263370;rs5748470 G A 183.43 . #_unique_end_positions=,20;#_unique_start_positions=,19;AC=42;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3918;AF_ESP_clinvar_20171029_hg19=,0.4538;ALLELEID_clinvar_20171029_hg19=,259134;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6297;AN=42;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.26;CAF_dbsnp_common_v150_hg19_refseq=,0.4032|0.5968;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374|MedGen:CN230736;CLNDN_clinvar_20171029_hg19=,not_specified|Cardiovascular_phenotype;CLNHGVS_clinvar_20171029_hg19=,NC_000022.10:g.19907118G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001282512.1:c.177C>T|_NM_006440.4:c.177C>T;Coding_region_change_in_longest_transcript=,NM_006440.4:c.177C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.8810;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5060;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,26;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,TXNRD2:10587;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:10587;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:10587;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:18155;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:18155;Homo_sapiens_refseq_GRCh37.p13_Genes=,TXNRD2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_006440.4|NM_001282512.1;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene38905;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna57661|rna57662;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:606448;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:606448;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene38905;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,19907118;RS_dbsnp_common_v150_hg19_refseq=,5748470;Read_count=,29;Read_coverage=,66;Read_direction_test_probability=,0.781754368073343;Read_position_test_probability=,0.6056291656887447;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_006440.4|NM_001282512.1;Reverse_read_coverage=,40;S3D_dbsnp_common_v150_hg19_refseq=,S3D;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6513;SF=0,1,2,5,6,7,8,9,10,11,14,15,16,17,18,19,21,22,23,25,26,27,31,32,33,35,36,37,38,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;TOPMED_dbsnp_common_v150_hg19_refseq=,0.528917|0.471083;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05030008030517053f000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.459184;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.509009;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.914634;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.894118;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.597701;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.848837;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.866279;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.444444;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.68;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.342657;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.488636;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.370536;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.981;db_xref=,GeneID:10587|HGNC:HGNC:18155|MIM:606448;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:18519|HPRD:05921;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_006440.4|HPRD:18519|HPRD:05921|Genbank:NM_001282512.1;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,thioredoxin_reductase_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TXNRD2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TXNRD2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,SELZ|TR|TR-BETA|TR3|TRXR2;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,thioredoxin_reductase_2|_transcript_variant_1|thioredoxin_reductase_2|_transcript_variant_2;transcript_id=,NM_006440.4|NM_001282512.1;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TXNRD2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TXNRD2:NM_001282512:exon3:c.C177T:p.A59A;cytoBand=22q11.21;genomicSuperDups=.;esp6500siv2_all=0.4538;esp6500siv2_ea=0.4793;esp6500siv2_all=0.4538;esp6500siv2_ea=0.4793;1000g2015aug_all=0.596845;avsnp147=rs5748470;Kaviar_AF=0.414833;Kaviar_AC=64134;Kaviar_AN=154602;ExAC_ALL=0.5649;ExAC_AFR=0.4302;ExAC_AMR=0.6263;ExAC_EAS=0.8092;ExAC_FIN=0.5712;ExAC_NFE=0.5426;ExAC_OTH=0.6339;ExAC_SAS=0.6157;CLNALLELEID=259134;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.5922;dpsi_zscore=-1.179;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.5712;gnomAD_exome_AFR=0.3910;gnomAD_exome_AMR=0.6922;gnomAD_exome_ASJ=0.5833;gnomAD_exome_EAS=0.8687;gnomAD_exome_FIN=0.5855;gnomAD_exome_NFE=0.4826;gnomAD_exome_OTH=0.5656;gnomAD_exome_SAS=0.6204;gnomAD_genome_ALL=0.5249;gnomAD_genome_AFR=0.4119;gnomAD_genome_AMR=0.6899;gnomAD_genome_ASJ=0.5993;gnomAD_genome_EAS=0.8856;gnomAD_genome_FIN=0.6070;gnomAD_genome_NFE=0.5193;gnomAD_genome_OTH=0.5626;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1:52:0,24 1/1:62:0,62 1/1:73:0,73 . . 1/1:101:0,101 1/1:53:0,53 1:73:0,36 1:104:0,43 1:74:0,30 1:104:0,54 1:85:0,32 . . 1:126:0,48 1/1:78:0,78 1/1:77:0,77 1/1:94:0,94 1/1:65:0,65 1:78:0,32 . 1:123:0,58 1:148:0,68 1:134:0,68 . 1:78:0,32 1:66:0,19 1:136:0,57 . . . 1:60:0,31 1:93:0,39 1:68:0,26 . 1:81:0,43 1:70:0,35 1:67:0,24 1:46:0,19 1:108:0,42 1/1:78:0,78 1/1:80:0,80 X 31496350 166667;rs1800280 C T 180.27 . #_unique_end_positions=,28;#_unique_start_positions=,27;AC=84;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7579;ALLELEID_clinvar_20171029_hg19=,177478;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6254;AN=84;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_003997.1:p.Arg2937Gln|_NP_004014.1:p.Arg477Gln|_NP_004003.1:p.Arg1593Gln|_NP_004002.2:p.Arg1596Gln|_NP_004001.1:p.Arg2814Gln|_NP_000100.2:p.Arg2929Gln|_NP_004013.1:p.Arg477Gln|_NP_004004.1:p.Arg477Gln|_NP_004005.1:p.Arg208Gln|_NP_004011.2:p.Arg477Gln|_NP_004012.1:p.Arg477Gln|_NP_004000.1:p.Arg2933Gln;Amino_acid_change_in_longest_transcript=,NP_004001.1:p.Arg2814Gln;CAF_dbsnp_common_v150_hg19_refseq=,0.1181|0.8819;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000023.10:g.31496350C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,ARUP_Laboratories|_Molecular_Genetics_and_Genomics:47061|HGMD:CM135605;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000109.3:c.8786G>A|_NM_004006.2:c.8810G>A|_NM_004009.3:c.8798G>A|_NM_004010.3:c.8441G>A|_NM_004011.3:c.4787G>A|_NM_004012.3:c.4778G>A|_NM_004013.2:c.1430G>A|_NM_004014.2:c.623G>A|_NM_004020.3:c.1430G>A|_NM_004021.2:c.1430G>A|_NM_004022.2:c.1430G>A|_NM_004023.2:c.1430G>A;Coding_region_change_in_longest_transcript=,NM_004010.3:c.8441G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7034;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.7147;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-TSI;Forward_read_coverage=,36;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,DMD:1756;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:1756;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:1756;Genotype=,T/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:2928;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:2928;Homo_sapiens_refseq_GRCh37.p13_Genes=,DMD;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_004014.2|NM_004023.2|NM_004020.3|NM_004022.2|NM_004021.2|NM_004013.2|NM_004012.3|NM_004011.3|NM_004010.3|NM_004009.3|NM_004006.2|NM_000109.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene40014;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna59272|rna59267|rna59268|rna59269|rna59270|rna59271|rna59266|rna59265|rna59264|rna59263|rna59262|rna59261;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:300377;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:300377;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence|The_RefSeq_transcript_has_2_substitutions_compared_to_this_genomic_sequence|The_RefSeq_transcript_has_3_substitutions_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene40014;QUAL=,156.53559774527022;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,31496350;RS_dbsnp_common_v150_hg19_refseq=,1800280;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,57;Read_coverage=,57;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_004014.2|NM_004023.2|NM_004020.3|NM_004022.2|NM_004021.2|NM_004013.2|NM_004012.3|NM_004011.3|NM_004010.3|NM_004009.3|NM_004006.2|NM_000109.3;Reverse_read_coverage=,21;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4755;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050168000a0515053f100101;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.963415;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.947059;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.6875;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.8;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.948864;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:1756|HGNC:HGNC:2928|MIM:300377;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_004014.2|Genbank:NM_004023.2|Genbank:NM_004020.3|Genbank:NM_004022.2|Genbank:NM_004021.2|Genbank:NM_004013.2|Genbank:NM_004012.3|Genbank:NM_004011.3|Genbank:NM_004010.3|Genbank:NM_004009.3|Genbank:NM_004006.2|Genbank:NM_000109.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,dystrophin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,DMD;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,DMD;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,BMD|CMD3B|DXS142|DXS164|DXS206|DXS230|DXS239|DXS268|DXS269|DXS270|DXS272|MRX85;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,dystrophin|_transcript_variant_Dp116|dystrophin|_transcript_variant_Dp140bc|dystrophin|_transcript_variant_Dp140c|dystrophin|_transcript_variant_D140ab|dystrophin|_transcript_variant_Dp140b|dystrophin|_transcript_variant_Dp140|dystrophin|_transcript_variant_Dp260-2|dystrophin|_transcript_variant_Dp260-1|dystrophin|_transcript_variant_Dp427p2|dystrophin|_transcript_variant_Dp427p1|dystrophin|_transcript_variant_Dp427m|dystrophin|_transcript_variant_Dp427c;transcript_id=,NM_004014.2|NM_004023.2|NM_004020.3|NM_004022.2|NM_004021.2|NM_004013.2|NM_004012.3|NM_004011.3|NM_004010.3|NM_004009.3|NM_004006.2|NM_000109.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DMD;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DMD:NM_004014:exon5:c.G623A:p.R208Q,DMD:NM_004013:exon16:c.G1430A:p.R477Q,DMD:NM_004020:exon16:c.G1430A:p.R477Q,DMD:NM_004021:exon16:c.G1430A:p.R477Q,DMD:NM_004022:exon16:c.G1430A:p.R477Q,DMD:NM_004023:exon16:c.G1430A:p.R477Q,DMD:NM_004011:exon31:c.G4787A:p.R1596Q,DMD:NM_004012:exon31:c.G4778A:p.R1593Q,DMD:NM_000109:exon59:c.G8786A:p.R2929Q,DMD:NM_004006:exon59:c.G8810A:p.R2937Q,DMD:NM_004009:exon59:c.G8798A:p.R2933Q,DMD:NM_004010:exon59:c.G8441A:p.R2814Q;cytoBand=Xp21.2;genomicSuperDups=.;esp6500siv2_all=0.9568;esp6500siv2_ea=0.9392;esp6500siv2_all=0.9568;esp6500siv2_ea=0.9392;1000g2015aug_all=0.881854;avsnp147=rs1800280;Kaviar_AF=0.0006662;Kaviar_AC=103;Kaviar_AN=154602;ExAC_ALL=0.9045;ExAC_AFR=0.9888;ExAC_AMR=0.7877;ExAC_EAS=0.9234;ExAC_FIN=0.9421;ExAC_NFE=0.9459;ExAC_OTH=0.9300;ExAC_SAS=0.7103;CLNALLELEID=177478;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.624;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.003;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=1.01;FATHMM_pred=T;PROVEAN_score=0.26;PROVEAN_pred=N;VEST3_score=0.203;CADD_raw=2.138;CADD_phred=17.10;DANN_score=0.834;fathmm-MKL_coding_score=0.307;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.945;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=4.23;phyloP7way_vertebrate=0.084;phyloP20way_mammalian=0.154;phastCons7way_vertebrate=0.995;phastCons20way_mammalian=0.995;SiPhy_29way_logOdds=8.899;GDI_full_10282015=.;dpsi_max_tissue=-0.1909;dpsi_zscore=-0.669;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM135605#"Muscular_dystrophy_Duchenne";gnomAD_exome_ALL=0.8970;gnomAD_exome_AFR=0.9900;gnomAD_exome_AMR=0.7949;gnomAD_exome_ASJ=0.9789;gnomAD_exome_EAS=0.9222;gnomAD_exome_FIN=0.9416;gnomAD_exome_NFE=0.9407;gnomAD_exome_OTH=0.9166;gnomAD_exome_SAS=0.7056;gnomAD_genome_ALL=0.9524;gnomAD_genome_AFR=0.9879;gnomAD_genome_AMR=0.8336;gnomAD_genome_ASJ=0.9565;gnomAD_genome_EAS=0.9268;gnomAD_genome_FIN=0.9410;gnomAD_genome_NFE=0.9457;gnomAD_genome_OTH=0.9392;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 1/1:48:0,48 1/1:81:0,81 1/1:72:0,72 1/1:53:0,53 1/1:49:0,49 1/1:98:0,98 1/1:97:0,97 1/1:54:0,54 1/1:146:0,146 1/1:63:0,63 1/1:176:0,176 1/1:127:0,127 1/1:132:0,132 1/1:156:0,156 1/1:175:0,174 1/1:125:0,125 1/1:76:0,76 1/1:82:0,82 1/1:127:0,127 1/1:50:0,50 1/1:56:0,56 1/1:72:0,72 1/1:75:0,75 1/1:66:0,66 1/1:177:0,177 1/1:57:0,57 1/1:47:0,47 1/1:151:0,151 1/1:188:0,188 1/1:82:0,82 1/1:141:0,141 1/1:83:0,83 1/1:124:0,124 1/1:69:0,69 1/1:66:0,66 1/1:116:0,116 1/1:94:0,94 1/1:114:0,114 1/1:45:0,45 1/1:47:0,47 1/1:66:0,66 1/1:83:0,83 X 31496398 11269;rs1800279 T C 200.00 . #_unique_end_positions=,36;#_unique_start_positions=,32;AC=4;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0015;AF_ESP_clinvar_20171029_hg19=,0.0206;AF_EXAC_clinvar_20171029_hg19=,0.02629;AF_TGP_clinvar_20171029_hg19=,0.0148;ALLELEID_clinvar_20171029_hg19=,26308;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0115;AN=4;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_003997.1:p.His2921Arg|_NP_004004.1:p.His461Arg|_NP_004011.2:p.His461Arg|_NP_004003.1:p.His1577Arg|_NP_004013.1:p.His461Arg|_NP_004000.1:p.His2917Arg|_NP_004002.2:p.His1580Arg|_NP_000100.2:p.His2913Arg|_NP_004014.1:p.His461Arg|_NP_004012.1:p.His461Arg|_NP_004005.1:p.His192Arg|_NP_004001.1:p.His2798Arg;Amino_acid_change_in_longest_transcript=,NP_004001.1:p.His2798Arg;BaseQRankSum=,0.01;CAF_dbsnp_common_v150_hg19_refseq=,0.9852|0.01483;CLNDISDB_clinvar_20171029_hg19=,MedGen:C0013264|OMIM:310200|Orphanet:ORPHA98896|SNOMED_CT:76670001|MedGen:C0917713|OMIM:300376|Orphanet:ORPHA98895|SNOMED_CT:387732009|MedGen:C3668940|OMIM:302045|MedGen:CN169374|MedGen:CN230736;CLNDN_clinvar_20171029_hg19=,Duchenne_muscular_dystrophy|Becker_muscular_dystrophy|Dilated_cardiomyopathy_3B|not_specified|Cardiovascular_phenotype;CLNHGVS_clinvar_20171029_hg19=,NC_000023.10:g.31496398T>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_conflicting_interpretations;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,ARUP_Laboratories|_Molecular_Genetics_and_Genomics:72851|Illumina_Clinical_Services_Laboratory|Illumina:99122|OMIM_Allelic_Variant:300377.0063;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000109.3:c.8738A>G|_NM_004006.2:c.8762A>G|_NM_004009.3:c.8750A>G|_NM_004010.3:c.8393A>G|_NM_004011.3:c.4739A>G|_NM_004012.3:c.4730A>G|_NM_004013.2:c.1382A>G|_NM_004014.2:c.575A>G|_NM_004020.3:c.1382A>G|_NM_004021.2:c.1382A>G|_NM_004022.2:c.1382A>G|_NM_004023.2:c.1382A>G;Coding_region_change_in_longest_transcript=,NM_004010.3:c.8393A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0249;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,31;GENEINFO_dbsnp_common_v150_hg19_refseq=,DMD:1756;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:1756;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:1756;Genotype=,C/C;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:2928;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:2928;Homo_sapiens_refseq_GRCh37.p13_Genes=,DMD;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_004014.2|NM_004023.2|NM_004020.3|NM_004022.2|NM_004021.2|NM_004013.2|NM_004012.3|NM_004011.3|NM_004010.3|NM_004009.3|NM_004006.2|NM_000109.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene40014;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna59272|rna59267|rna59268|rna59269|rna59270|rna59271|rna59266|rna59265|rna59264|rna59263|rna59262|rna59261;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:300377;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:300377;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution_compared_to_this_genomic_sequence|The_RefSeq_transcript_has_2_substitutions_compared_to_this_genomic_sequence|The_RefSeq_transcript_has_3_substitutions_compared_to_this_genomic_sequence;OM_dbsnp_common_v150_hg19_refseq=,OM;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene40014;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,31496398;RS_dbsnp_common_v150_hg19_refseq=,1800279;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,60;Read_coverage=,60;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_004014.2|NM_004023.2|NM_004020.3|NM_004022.2|NM_004021.2|NM_004013.2|NM_004012.3|NM_004011.3|NM_004010.3|NM_004009.3|NM_004006.2|NM_000109.3;Reverse_read_coverage=,29;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0215;SF=7,14,18;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050168000a05140536110100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.99;db_xref=,GeneID:1756|HGNC:HGNC:2928|MIM:300377;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_004014.2|Genbank:NM_004023.2|Genbank:NM_004020.3|Genbank:NM_004022.2|Genbank:NM_004021.2|Genbank:NM_004013.2|Genbank:NM_004012.3|Genbank:NM_004011.3|Genbank:NM_004010.3|Genbank:NM_004009.3|Genbank:NM_004006.2|Genbank:NM_000109.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,dystrophin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,DMD;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,DMD;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,BMD|CMD3B|DXS142|DXS164|DXS206|DXS230|DXS239|DXS268|DXS269|DXS270|DXS272|MRX85;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,dystrophin|_transcript_variant_Dp116|dystrophin|_transcript_variant_Dp140bc|dystrophin|_transcript_variant_Dp140c|dystrophin|_transcript_variant_D140ab|dystrophin|_transcript_variant_Dp140b|dystrophin|_transcript_variant_Dp140|dystrophin|_transcript_variant_Dp260-2|dystrophin|_transcript_variant_Dp260-1|dystrophin|_transcript_variant_Dp427p2|dystrophin|_transcript_variant_Dp427p1|dystrophin|_transcript_variant_Dp427m|dystrophin|_transcript_variant_Dp427c;transcript_id=,NM_004014.2|NM_004023.2|NM_004020.3|NM_004022.2|NM_004021.2|NM_004013.2|NM_004012.3|NM_004011.3|NM_004010.3|NM_004009.3|NM_004006.2|NM_000109.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DMD;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DMD:NM_004014:exon5:c.A575G:p.H192R,DMD:NM_004013:exon16:c.A1382G:p.H461R,DMD:NM_004020:exon16:c.A1382G:p.H461R,DMD:NM_004021:exon16:c.A1382G:p.H461R,DMD:NM_004022:exon16:c.A1382G:p.H461R,DMD:NM_004023:exon16:c.A1382G:p.H461R,DMD:NM_004011:exon31:c.A4739G:p.H1580R,DMD:NM_004012:exon31:c.A4730G:p.H1577R,DMD:NM_000109:exon59:c.A8738G:p.H2913R,DMD:NM_004006:exon59:c.A8762G:p.H2921R,DMD:NM_004009:exon59:c.A8750G:p.H2917R,DMD:NM_004010:exon59:c.A8393G:p.H2798R;cytoBand=Xp21.2;genomicSuperDups=.;esp6500siv2_all=0.0205;esp6500siv2_ea=0.0297;esp6500siv2_all=0.0205;esp6500siv2_ea=0.0297;1000g2015aug_all=0.0148344;avsnp147=rs1800279;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=0.0263;ExAC_AFR=0.0044;ExAC_AMR=0.0171;ExAC_EAS=0;ExAC_FIN=0.0407;ExAC_NFE=0.0340;ExAC_OTH=0.0427;ExAC_SAS=0.0265;CLNALLELEID=26308;CLNDN=Duchenne_muscular_dystrophy|Becker_muscular_dystrophy|Dilated_cardiomyopathy_3B|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED_CT:76670001|MedGen:C0917713,OMIM:300376,Orphanet:ORPHA98895,SNOMED_CT:387732009|MedGen:C3668940,OMIM:302045|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.01;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.005;Polyphen2_HVAR_pred=B;LRT_score=0.181;LRT_pred=N;MutationTaster_score=0.000;MutationTaster_pred=A;MutationAssessor_score=-1.61;MutationAssessor_pred=N;FATHMM_score=1.46;FATHMM_pred=T;PROVEAN_score=0.8;PROVEAN_pred=N;VEST3_score=0.307;CADD_raw=-0.113;CADD_phred=1.633;DANN_score=0.696;fathmm-MKL_coding_score=0.863;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.994;MetaSVM_pred=T;MetaLR_score=0.006;MetaLR_pred=T;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=2.92;phyloP7way_vertebrate=0.037;phyloP20way_mammalian=0.144;phastCons7way_vertebrate=0.985;phastCons20way_mammalian=0.803;SiPhy_29way_logOdds=8.318;GDI_full_10282015=.;dpsi_max_tissue=0.0277;dpsi_zscore=0.183;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0258;gnomAD_exome_AFR=0.0033;gnomAD_exome_AMR=0.0148;gnomAD_exome_ASJ=0.0221;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0420;gnomAD_exome_NFE=0.0330;gnomAD_exome_OTH=0.0353;gnomAD_exome_SAS=0.0280;gnomAD_genome_ALL=0.0245;gnomAD_genome_AFR=0.0036;gnomAD_genome_AMR=0.0146;gnomAD_genome_ASJ=0.0158;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0512;gnomAD_genome_NFE=0.0318;gnomAD_genome_OTH=0.0362;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:DP:CLCAD2 . . . . . . . 1/1:51:0,51 . . . . . . 1:168:0,86 . . . 1:118:0,54 . . . . . . . . . . . . . . . . . . . . . . . X 31697636 94776;rs1801188 A G 126.31 . #_unique_end_positions=,21;#_unique_start_positions=,18;AC=20;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0711;AF_ESP_clinvar_20171029_hg19=,0.1679;AF_EXAC_clinvar_20171029_hg19=,0.17125;AF_TGP_clinvar_20171029_hg19=,0.1812;ALLELEID_clinvar_20171029_hg19=,100676;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1182;AN=20;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.49;CAF_dbsnp_common_v150_hg19_refseq=,0.8188|0.1812;CLNDISDB_clinvar_20171029_hg19=,MedGen:C3668940|OMIM:302045|MedGen:CN169374|MedGen:CN230736;CLNDN_clinvar_20171029_hg19=,Dilated_cardiomyopathy_3B|not_specified|Cardiovascular_phenotype;CLNHGVS_clinvar_20171029_hg19=,NC_000023.10:g.31697636A>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,ARUP_Laboratories|_Molecular_Genetics_and_Genomics:49132|Illumina_Clinical_Services_Laboratory|Illumina:47139;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000109.3:c.7704T>C|_NM_004006.2:c.7728T>C|_NM_004009.3:c.7716T>C|_NM_004010.3:c.7359T>C|_NM_004011.3:c.3705T>C|_NM_004012.3:c.3696T>C|_NM_004013.2:c.348T>C|_NM_004020.3:c.348T>C|_NM_004021.2:c.348T>C|_NM_004022.2:c.348T>C|_NM_004023.2:c.348T>C;Coding_region_change_in_longest_transcript=,NM_004010.3:c.7359T>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2887;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1193;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,15;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,DMD:1756;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:1756;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:1756;Genotype=,G/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:2928;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:2928;Homo_sapiens_refseq_GRCh37.p13_Genes=,DMD;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_004023.2|NM_004020.3|NM_004022.2|NM_004021.2|NM_004013.2|NM_004012.3|NM_004011.3|NM_004010.3|NM_004009.3|NM_004006.2|NM_000109.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene40014;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna59267|rna59268|rna59269|rna59270|rna59271|rna59266|rna59265|rna59264|rna59263|rna59262|rna59261;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:300377;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:300377;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_2_substitutions_compared_to_this_genomic_sequence|The_RefSeq_transcript_has_3_substitutions_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene40014;QUAL=,94.98399160642566;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,31697636;RS_dbsnp_common_v150_hg19_refseq=,1801188;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,24;Read_coverage=,24;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_004023.2|NM_004020.3|NM_004022.2|NM_004021.2|NM_004013.2|NM_004012.3|NM_004011.3|NM_004010.3|NM_004009.3|NM_004006.2|NM_000109.3;Reverse_read_coverage=,9;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0992;SF=4,11,16,20,23,25,27,29,31,37,38,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128000305150537000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.0408163;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.148649;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.329268;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.364706;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.147727;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.465116;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.465116;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.0842697;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.07;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.0422535;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.151163;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.0733945;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:1756|HGNC:HGNC:2928|MIM:300377;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_004023.2|Genbank:NM_004020.3|Genbank:NM_004022.2|Genbank:NM_004021.2|Genbank:NM_004013.2|Genbank:NM_004012.3|Genbank:NM_004011.3|Genbank:NM_004010.3|Genbank:NM_004009.3|Genbank:NM_004006.2|Genbank:NM_000109.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,dystrophin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,DMD;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,DMD;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,BMD|CMD3B|DXS142|DXS164|DXS206|DXS230|DXS239|DXS268|DXS269|DXS270|DXS272|MRX85;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,dystrophin|_transcript_variant_Dp140bc|dystrophin|_transcript_variant_Dp140c|dystrophin|_transcript_variant_D140ab|dystrophin|_transcript_variant_Dp140b|dystrophin|_transcript_variant_Dp140|dystrophin|_transcript_variant_Dp260-2|dystrophin|_transcript_variant_Dp260-1|dystrophin|_transcript_variant_Dp427p2|dystrophin|_transcript_variant_Dp427p1|dystrophin|_transcript_variant_Dp427m|dystrophin|_transcript_variant_Dp427c;transcript_id=,NM_004023.2|NM_004020.3|NM_004022.2|NM_004021.2|NM_004013.2|NM_004012.3|NM_004011.3|NM_004010.3|NM_004009.3|NM_004006.2|NM_000109.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DMD;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DMD:NM_004013:exon10:c.T348C:p.N116N,DMD:NM_004020:exon10:c.T348C:p.N116N,DMD:NM_004021:exon10:c.T348C:p.N116N,DMD:NM_004022:exon10:c.T348C:p.N116N,DMD:NM_004023:exon10:c.T348C:p.N116N,DMD:NM_004011:exon25:c.T3705C:p.N1235N,DMD:NM_004012:exon25:c.T3696C:p.N1232N,DMD:NM_000109:exon53:c.T7704C:p.N2568N,DMD:NM_004006:exon53:c.T7728C:p.N2576N,DMD:NM_004009:exon53:c.T7716C:p.N2572N,DMD:NM_004010:exon53:c.T7359C:p.N2453N;cytoBand=Xp21.1;genomicSuperDups=.;esp6500siv2_all=0.1679;esp6500siv2_ea=0.2027;esp6500siv2_all=0.1679;esp6500siv2_ea=0.2027;1000g2015aug_all=0.181192;avsnp147=rs1801188;Kaviar_AF=0.166059;Kaviar_AC=25673;Kaviar_AN=154602;ExAC_ALL=0.1713;ExAC_AFR=0.1012;ExAC_AMR=0.0759;ExAC_EAS=0.3561;ExAC_FIN=0.1303;ExAC_NFE=0.1871;ExAC_OTH=0.1873;ExAC_SAS=0.1391;CLNALLELEID=100676;CLNDN=Duchenne_muscular_dystrophy|Becker_muscular_dystrophy|Dilated_cardiomyopathy_3B|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED_CT:76670001|MedGen:C0917713,OMIM:300376,Orphanet:ORPHA98895,SNOMED_CT:387732009|MedGen:C3668940,OMIM:302045|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.5237;dpsi_zscore=1.155;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1693;gnomAD_exome_AFR=0.0996;gnomAD_exome_AMR=0.0826;gnomAD_exome_ASJ=0.1780;gnomAD_exome_EAS=0.3481;gnomAD_exome_FIN=0.1266;gnomAD_exome_NFE=0.1943;gnomAD_exome_OTH=0.1756;gnomAD_exome_SAS=0.1419;gnomAD_genome_ALL=0.1572;gnomAD_genome_AFR=0.0954;gnomAD_genome_AMR=0.1015;gnomAD_genome_ASJ=0.15;gnomAD_genome_EAS=0.3494;gnomAD_genome_FIN=0.1350;gnomAD_genome_NFE=0.1815;gnomAD_genome_OTH=0.1715;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 . . . . 1/1:22:0,22 . . . . . . 1:44:0,23 . . . . 1/1:21:0,21 . . . 1/1:47:0,47 . . 1/1:28:0,28 . 1/1:17:0,17 . 1:85:0,38 . 1/1:32:0,32 . 1:32:0,18 . . . . . 1:60:0,28 1/1:12:0,12 . . 1/1:33:0,33 X 31893307 166706;rs1800275 T G 68.05 . #_unique_end_positions=,10;#_unique_start_positions=,10;AC=17;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1135;AF_ESP_clinvar_20171029_hg19=,0.2046;AF_EXAC_clinvar_20171029_hg19=,0.27806;AF_TGP_clinvar_20171029_hg19=,0.1833;ALLELEID_clinvar_20171029_hg19=,177498;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3314;AN=17;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_004000.1:p.Lys2362Gln|_NP_003997.1:p.Lys2366Gln|_NP_004001.1:p.Lys2243Gln|_NP_004003.1:p.Lys1022Gln|_NP_000100.2:p.Lys2358Gln|_NP_004002.2:p.Lys1025Gln;Amino_acid_change_in_longest_transcript=,NP_004001.1:p.Lys2243Gln;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.8167|0.1833;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000023.10:g.31893307T>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,ARUP_Laboratories|_Molecular_Genetics_and_Genomics:47072;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000109.3:c.7072A>C|_NM_004006.2:c.7096A>C|_NM_004009.3:c.7084A>C|_NM_004010.3:c.6727A>C|_NM_004011.3:c.3073A>C|_NM_004012.3:c.3064A>C|_NM_004013.2:c.-285A>C|_NM_004020.3:c.-285A>C|_NM_004021.2:c.-285A>C|_NM_004022.2:c.-285A>C|_NM_004023.2:c.-285A>C;Coding_region_change_in_longest_transcript=,NM_004010.3:c.6727A>C;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0774;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1581;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,4;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,DMD:1756;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:1756;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:1756;Genotype=,G/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:2928;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:2928;Homo_sapiens_refseq_GRCh37.p13_Genes=,DMD;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_004023.2|NM_004020.3|NM_004022.2|NM_004021.2|NM_004013.2|NM_004012.3|NM_004011.3|NM_004010.3|NM_004009.3|NM_004006.2|NM_000109.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene40014;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna59267|rna59268|rna59269|rna59270|rna59271|rna59266|rna59265|rna59264|rna59263|rna59262|rna59261;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001623|5_prime_UTR_variant|SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:300377;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:300377;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_2_substitutions_compared_to_this_genomic_sequence|The_RefSeq_transcript_has_3_substitutions_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene40014;QUAL=,67.88449810159034;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,31893307;RS_dbsnp_common_v150_hg19_refseq=,1800275;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,13;Read_coverage=,13;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_004023.2|NM_004020.3|NM_004022.2|NM_004021.2|NM_004013.2|NM_004012.3|NM_004011.3|NM_004010.3|NM_004009.3|NM_004006.2|NM_000109.3;Reverse_read_coverage=,9;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0767;SF=6,11,12,15,18,27,28,32,33,35,37,40;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;U5_dbsnp_common_v150_hg19_refseq=,U5;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050168400a05170537100101;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.233333;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.1;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.170455;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.158333;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.995;db_xref=,GeneID:1756|HGNC:HGNC:2928|MIM:300377;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_004023.2|Genbank:NM_004020.3|Genbank:NM_004022.2|Genbank:NM_004021.2|Genbank:NM_004013.2|Genbank:NM_004012.3|Genbank:NM_004011.3|Genbank:NM_004010.3|Genbank:NM_004009.3|Genbank:NM_004006.2|Genbank:NM_000109.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,dystrophin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,DMD;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,DMD;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,BMD|CMD3B|DXS142|DXS164|DXS206|DXS230|DXS239|DXS268|DXS269|DXS270|DXS272|MRX85;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,dystrophin|_transcript_variant_Dp140bc|dystrophin|_transcript_variant_Dp140c|dystrophin|_transcript_variant_D140ab|dystrophin|_transcript_variant_Dp140b|dystrophin|_transcript_variant_Dp140|dystrophin|_transcript_variant_Dp260-2|dystrophin|_transcript_variant_Dp260-1|dystrophin|_transcript_variant_Dp427p2|dystrophin|_transcript_variant_Dp427p1|dystrophin|_transcript_variant_Dp427m|dystrophin|_transcript_variant_Dp427c;transcript_id=,NM_004023.2|NM_004020.3|NM_004022.2|NM_004021.2|NM_004013.2|NM_004012.3|NM_004011.3|NM_004010.3|NM_004009.3|NM_004006.2|NM_000109.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=splicing;Gene.refGene=DMD;GeneDetail.refGene=NM_004006:exon48:c.7095+1A>C,NM_004010:exon48:c.6726+1A>C,NM_004009:exon48:c.7083+1A>C,NM_004011:exon20:c.3072+1A>C,NM_004012:exon20:c.3063+1A>C,NM_000109:exon48:c.7071+1A>C;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=Xp21.1;genomicSuperDups=.;esp6500siv2_all=0.2046;esp6500siv2_ea=0.2178;esp6500siv2_all=0.2046;esp6500siv2_ea=0.2178;1000g2015aug_all=0.183311;avsnp147=rs1800275;Kaviar_AF=0.208329;Kaviar_AC=32208;Kaviar_AN=154602;ExAC_ALL=0.2781;ExAC_AFR=0.2023;ExAC_AMR=0.5924;ExAC_EAS=0.1232;ExAC_FIN=0.2630;ExAC_NFE=0.2685;ExAC_OTH=0.2315;ExAC_SAS=0.1754;CLNALLELEID=177498;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.288;SIFT_pred=T;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.994;Polyphen2_HVAR_pred=D;LRT_score=0.002;LRT_pred=U;MutationTaster_score=0.689;MutationTaster_pred=P;MutationAssessor_score=0.205;MutationAssessor_pred=N;FATHMM_score=1.24;FATHMM_pred=T;PROVEAN_score=-0.36;PROVEAN_pred=N;VEST3_score=0.454;CADD_raw=1.905;CADD_phred=15.62;DANN_score=0.987;fathmm-MKL_coding_score=0.887;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.014;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=5.18;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=1.061;phastCons7way_vertebrate=0.729;phastCons20way_mammalian=0.987;SiPhy_29way_logOdds=12.909;GDI_full_10282015=.;dpsi_max_tissue=2.0639;dpsi_zscore=1.988;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.2342;gnomAD_exome_AFR=0.1709;gnomAD_exome_AMR=0.5172;gnomAD_exome_ASJ=0.1878;gnomAD_exome_EAS=0.0988;gnomAD_exome_FIN=0.1941;gnomAD_exome_NFE=0.2076;gnomAD_exome_OTH=0.2181;gnomAD_exome_SAS=0.1374;gnomAD_genome_ALL=0.2011;gnomAD_genome_AFR=0.1573;gnomAD_genome_AMR=0.4651;gnomAD_genome_ASJ=0.1720;gnomAD_genome_EAS=0.1015;gnomAD_genome_FIN=0.1922;gnomAD_genome_NFE=0.2224;gnomAD_genome_OTH=0.2103;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=6 GT:DP:CLCAD2 . . . . . . 1/1:13:0,13 . . . . 1:22:0,8 1:24:0,7 . . 1:25:0,10 . . 1:27:0,11 . . . . . . . . 1/1:27:0,27 1/1:18:0,18 . . . 1:24:0,15 1/1:15:0,15 . 1:23:0,8 . 1:15:0,8 . . 1/1:17:0,17 . X 31986607 94741;rs1800273 G A 132.73 . #_unique_end_positions=,23;#_unique_start_positions=,24;AC=5;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0008;AF_ESP_clinvar_20171029_hg19=,0.0266;AF_EXAC_clinvar_20171029_hg19=,0.02605;AF_TGP_clinvar_20171029_hg19=,0.0130;ALLELEID_clinvar_20171029_hg19=,100641;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0231;AN=5;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_003997.1:p.Arg2155Trp|_NP_004000.1:p.Arg2151Trp|_NP_004001.1:p.Arg2032Trp|_NP_000100.2:p.Arg2147Trp|_NP_004002.2:p.Arg814Trp|_NP_004003.1:p.Arg811Trp;Amino_acid_change_in_longest_transcript=,NP_004001.1:p.Arg2032Trp;BaseQRankSum=,0.27;CAF_dbsnp_common_v150_hg19_refseq=,0.987|0.01298;CLNDISDB_clinvar_20171029_hg19=,MedGen:C0013264|OMIM:310200|Orphanet:ORPHA98896|SNOMED_CT:76670001|MedGen:C3668940|OMIM:302045|MedGen:CN169374|MedGen:CN230736;CLNDN_clinvar_20171029_hg19=,Duchenne_muscular_dystrophy|Dilated_cardiomyopathy_3B|not_specified|Cardiovascular_phenotype;CLNHGVS_clinvar_20171029_hg19=,NC_000023.10:g.31986607G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,ARUP_Laboratories|_Molecular_Genetics_and_Genomics:72214|Illumina_Clinical_Services_Laboratory|Illumina:88928;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000109.3:c.6439C>T|_NM_004006.2:c.6463C>T|_NM_004009.3:c.6451C>T|_NM_004010.3:c.6094C>T|_NM_004011.3:c.2440C>T|_NM_004012.3:c.2431C>T|_NM_004013.2:c.-918C>T|_NM_004020.3:c.-918C>T|_NM_004021.2:c.-918C>T|_NM_004022.2:c.-918C>T|_NM_004023.2:c.-918C>T;Coding_region_change_in_longest_transcript=,NM_004010.3:c.6094C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0249;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,8;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,DMD:1756;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:1756;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:1756;Genotype=,A/A;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:2928;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:2928;Homo_sapiens_refseq_GRCh37.p13_Genes=,DMD;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_004023.2|NM_004020.3|NM_004022.2|NM_004021.2|NM_004013.2|NM_004012.3|NM_004011.3|NM_004010.3|NM_004009.3|NM_004006.2|NM_000109.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene40014;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna59267|rna59268|rna59269|rna59270|rna59271|rna59266|rna59265|rna59264|rna59263|rna59262|rna59261;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant|SO:0001623|5_prime_UTR_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:300377;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:300377;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_2_substitutions_compared_to_this_genomic_sequence|The_RefSeq_transcript_has_3_substitutions_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene40014;QUAL=,113.3039020846465;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,31986607;RS_dbsnp_common_v150_hg19_refseq=,1800273;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,30;Read_coverage=,30;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_004023.2|NM_004020.3|NM_004022.2|NM_004021.2|NM_004013.2|NM_004012.3|NM_004011.3|NM_004010.3|NM_004009.3|NM_004006.2|NM_000109.3;Reverse_read_coverage=,22;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0072;SF=25,36,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;U5_dbsnp_common_v150_hg19_refseq=,U5;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128400a05150536000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.988;db_xref=,GeneID:1756|HGNC:HGNC:2928|MIM:300377;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_004023.2|Genbank:NM_004020.3|Genbank:NM_004022.2|Genbank:NM_004021.2|Genbank:NM_004013.2|Genbank:NM_004012.3|Genbank:NM_004011.3|Genbank:NM_004010.3|Genbank:NM_004009.3|Genbank:NM_004006.2|Genbank:NM_000109.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,dystrophin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,DMD;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,DMD;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,BMD|CMD3B|DXS142|DXS164|DXS206|DXS230|DXS239|DXS268|DXS269|DXS270|DXS272|MRX85;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,dystrophin|_transcript_variant_Dp140bc|dystrophin|_transcript_variant_Dp140c|dystrophin|_transcript_variant_D140ab|dystrophin|_transcript_variant_Dp140b|dystrophin|_transcript_variant_Dp140|dystrophin|_transcript_variant_Dp260-2|dystrophin|_transcript_variant_Dp260-1|dystrophin|_transcript_variant_Dp427p2|dystrophin|_transcript_variant_Dp427p1|dystrophin|_transcript_variant_Dp427m|dystrophin|_transcript_variant_Dp427c;transcript_id=,NM_004023.2|NM_004020.3|NM_004022.2|NM_004021.2|NM_004013.2|NM_004012.3|NM_004011.3|NM_004010.3|NM_004009.3|NM_004006.2|NM_000109.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DMD;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DMD:NM_004011:exon17:c.C2440T:p.R814W,DMD:NM_004012:exon17:c.C2431T:p.R811W,DMD:NM_000109:exon45:c.C6439T:p.R2147W,DMD:NM_004006:exon45:c.C6463T:p.R2155W,DMD:NM_004009:exon45:c.C6451T:p.R2151W,DMD:NM_004010:exon45:c.C6094T:p.R2032W;cytoBand=Xp21.1;genomicSuperDups=.;esp6500siv2_all=0.0266;esp6500siv2_ea=0.0378;esp6500siv2_all=0.0266;esp6500siv2_ea=0.0378;1000g2015aug_all=0.0129801;avsnp147=rs1800273;Kaviar_AF=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;ExAC_ALL=0.0260;ExAC_AFR=0.0057;ExAC_AMR=0.0125;ExAC_EAS=0;ExAC_FIN=0.0342;ExAC_NFE=0.0393;ExAC_OTH=0.0339;ExAC_SAS=0.0057;CLNALLELEID=100641;CLNDN=Duchenne_muscular_dystrophy|Becker_muscular_dystrophy|Dilated_cardiomyopathy_3B|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED_CT:76670001|MedGen:C0917713,OMIM:300376,Orphanet:ORPHA98895,SNOMED_CT:387732009|MedGen:C3668940,OMIM:302045|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.179;SIFT_pred=T;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.825;Polyphen2_HVAR_pred=P;LRT_score=0.094;LRT_pred=U;MutationTaster_score=0.974;MutationTaster_pred=P;MutationAssessor_score=0.695;MutationAssessor_pred=N;FATHMM_score=1.25;FATHMM_pred=T;PROVEAN_score=-1.37;PROVEAN_pred=N;VEST3_score=0.252;CADD_raw=5.113;CADD_phred=25.3;DANN_score=0.998;fathmm-MKL_coding_score=0.885;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.960;MetaSVM_pred=T;MetaLR_score=0.030;MetaLR_pred=T;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=2.52;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.089;phastCons7way_vertebrate=0.548;phastCons20way_mammalian=0.988;SiPhy_29way_logOdds=13.794;GDI_full_10282015=.;dpsi_max_tissue=-0.5466;dpsi_zscore=-1.137;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0264;gnomAD_exome_AFR=0.0054;gnomAD_exome_AMR=0.0184;gnomAD_exome_ASJ=0.0203;gnomAD_exome_EAS=7.808e-05;gnomAD_exome_FIN=0.0325;gnomAD_exome_NFE=0.0410;gnomAD_exome_OTH=0.0276;gnomAD_exome_SAS=0.0049;gnomAD_genome_ALL=0.0269;gnomAD_genome_AFR=0.0057;gnomAD_genome_AMR=0.0129;gnomAD_genome_ASJ=0.0106;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0354;gnomAD_genome_NFE=0.0404;gnomAD_genome_OTH=0.0277;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-3 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:28:0,28 . . . . . . . . . . 1:61:0,37 . . . . 1/1:35:0,35 X 32305793 390847 C T 57.03 . #_unique_end_positions=,9;#_unique_start_positions=,8;AC=1;ALLELEID_clinvar_20171029_hg19=,379237;AN=1;Amino_acid_change=,NP_004002.2:p.Ser707Asn|_NP_003997.1:p.Ser2048Asn|_NP_000100.2:p.Ser2040Asn|_NP_004003.1:p.Ser704Asn|_NP_004001.1:p.Ser1925Asn|_NP_004000.1:p.Ser2044Asn;Amino_acid_change_in_longest_transcript=,NP_004001.1:p.Ser1925Asn;BaseQRankSum=,0.0;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000023.10:g.32305793C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_single_submitter;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;Coding_region_change=,NM_000109.3:c.6119G>A|_NM_004006.2:c.6143G>A|_NM_004009.3:c.6131G>A|_NM_004010.3:c.5774G>A|_NM_004011.3:c.2120G>A|_NM_004012.3:c.2111G>A;Coding_region_change_in_longest_transcript=,NM_004010.3:c.5774G>A;Exact_match=,clinvar_20171029_hg19;Forward_read_coverage=,7;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:1756;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:1756;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:2928;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:2928;Homo_sapiens_refseq_GRCh37.p13_Genes=,DMD;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_004012.3|NM_004011.3|NM_004010.3|NM_004009.3|NM_004006.2|NM_000109.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene40014;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna59266|rna59265|rna59264|rna59263|rna59262|rna59261;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:300377;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:300377;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_2_substitutions_compared_to_this_genomic_sequence|The_RefSeq_transcript_has_3_substitutions_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene40014;QUAL=,57.02723114681781;Read_count=,9;Read_coverage=,25;Read_direction_test_probability=,0.4593564467849691;Read_position_test_probability=,0.4334893360351527;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_004012.3|NM_004011.3|NM_004010.3|NM_004009.3|NM_004006.2|NM_000109.3;Reverse_read_coverage=,18;SF=13;conservation_score=,1.0;db_xref=,GeneID:1756|HGNC:HGNC:2928|MIM:300377;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_004012.3|Genbank:NM_004011.3|Genbank:NM_004010.3|Genbank:NM_004009.3|Genbank:NM_004006.2|Genbank:NM_000109.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,dystrophin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,DMD;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,DMD;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,BMD|CMD3B|DXS142|DXS164|DXS206|DXS230|DXS239|DXS268|DXS269|DXS270|DXS272|MRX85;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,dystrophin|_transcript_variant_Dp260-2|dystrophin|_transcript_variant_Dp260-1|dystrophin|_transcript_variant_Dp427p2|dystrophin|_transcript_variant_Dp427p1|dystrophin|_transcript_variant_Dp427m|dystrophin|_transcript_variant_Dp427c;transcript_id=,NM_004012.3|NM_004011.3|NM_004010.3|NM_004009.3|NM_004006.2|NM_000109.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DMD;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DMD:NM_004011:exon15:c.G2120A:p.S707N,DMD:NM_004012:exon15:c.G2111A:p.S704N,DMD:NM_000109:exon43:c.G6119A:p.S2040N,DMD:NM_004006:exon43:c.G6143A:p.S2048N,DMD:NM_004009:exon43:c.G6131A:p.S2044N,DMD:NM_004010:exon43:c.G5774A:p.S1925N;cytoBand=Xp21.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs200494003;Kaviar_AF=0.00011;Kaviar_AC=17;Kaviar_AN=154602;ExAC_ALL=0.0001;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0002;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=379237;CLNDN=Duchenne_muscular_dystrophy|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED_CT:76670001|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.302;SIFT_pred=T;Polyphen2_HDIV_score=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.028;Polyphen2_HVAR_pred=B;LRT_score=0.631;LRT_pred=U;MutationTaster_score=1.000;MutationTaster_pred=N;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=0.79;FATHMM_pred=T;PROVEAN_score=-0.74;PROVEAN_pred=N;VEST3_score=0.062;CADD_raw=0.749;CADD_phred=9.145;DANN_score=0.763;fathmm-MKL_coding_score=0.637;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.088;MetaSVM_pred=T;MetaLR_score=0.063;MetaLR_pred=T;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=3.17;phyloP7way_vertebrate=0.067;phyloP20way_mammalian=0.205;phastCons7way_vertebrate=0.950;phastCons20way_mammalian=0.989;SiPhy_29way_logOdds=6.586;GDI_full_10282015=.;dpsi_max_tissue=-0.0484;dpsi_zscore=-0.258;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0001;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0.0017;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0001;gnomAD_exome_OTH=0.0003;gnomAD_exome_SAS=0;gnomAD_genome_ALL=4.679e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=9.508e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=2 GT:DP:CLCAD2 . . . . . . . . . . . . . 1:25:0,9 . . . . . . . . . . . . . . . . . . . . . . . . . . . . X 32380996 94657;rs1801187 C T 165.53 . #_unique_end_positions=,29;#_unique_start_positions=,28;AC=53;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0219;AF_ESP_clinvar_20171029_hg19=,0.3331;AF_TGP_clinvar_20171029_hg19=,0.4652;ALLELEID_clinvar_20171029_hg19=,100557;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4914;AN=53;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_004000.1:p.Arg1741His|_NP_003997.1:p.Arg1745His|_NP_004002.2:p.Arg404His|_NP_000100.2:p.Arg1737His|_NP_004003.1:p.Arg401His|_NP_004001.1:p.Arg1622His;Amino_acid_change_in_longest_transcript=,NP_004001.1:p.Arg1622His;BaseQRankSum=,-0.23;CAF_dbsnp_common_v150_hg19_refseq=,0.5348|0.4652;CLNDISDB_clinvar_20171029_hg19=,MedGen:C3668940|OMIM:302045|MedGen:CN169374|MedGen:CN230736;CLNDN_clinvar_20171029_hg19=,Dilated_cardiomyopathy_3B|not_specified|Cardiovascular_phenotype;CLNHGVS_clinvar_20171029_hg19=,NC_000023.10:g.32380996C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,ARUP_Laboratories|_Molecular_Genetics_and_Genomics:47086|Illumina_Clinical_Services_Laboratory|Illumina:47154;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000109.3:c.5210G>A|_NM_004006.2:c.5234G>A|_NM_004009.3:c.5222G>A|_NM_004010.3:c.4865G>A|_NM_004011.3:c.1211G>A|_NM_004012.3:c.1202G>A;Coding_region_change_in_longest_transcript=,NM_004010.3:c.4865G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5288;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3529;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI;Forward_read_coverage=,12;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,DMD:1756;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:1756;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:1756;Genotype=,T/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:2928;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:2928;Homo_sapiens_refseq_GRCh37.p13_Genes=,DMD;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_004012.3|NM_004011.3|NM_004010.3|NM_004009.3|NM_004006.2|NM_000109.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene40014;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna59266|rna59265|rna59264|rna59263|rna59262|rna59261;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:300377;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:300377;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_2_substitutions_compared_to_this_genomic_sequence|The_RefSeq_transcript_has_3_substitutions_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene40014;QUAL=,131.35704355596994;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,32380996;RS_dbsnp_common_v150_hg19_refseq=,1801187;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,38;Read_coverage=,38;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_004012.3|NM_004011.3|NM_004010.3|NM_004009.3|NM_004006.2|NM_000109.3;Reverse_read_coverage=,26;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5092;SF=3,5,6,7,8,10,11,12,13,14,16,17,18,19,22,23,24,26,27,28,29,30,31,32,33,34,35,37,38,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128000a0515053f000101;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.0816327;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.768293;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.770588;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.585227;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.0277778;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.74;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.146853;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.471264;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:1756|HGNC:HGNC:2928|MIM:300377;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_004012.3|Genbank:NM_004011.3|Genbank:NM_004010.3|Genbank:NM_004009.3|Genbank:NM_004006.2|Genbank:NM_000109.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,dystrophin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,DMD;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,DMD;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,BMD|CMD3B|DXS142|DXS164|DXS206|DXS230|DXS239|DXS268|DXS269|DXS270|DXS272|MRX85;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,dystrophin|_transcript_variant_Dp260-2|dystrophin|_transcript_variant_Dp260-1|dystrophin|_transcript_variant_Dp427p2|dystrophin|_transcript_variant_Dp427p1|dystrophin|_transcript_variant_Dp427m|dystrophin|_transcript_variant_Dp427c;transcript_id=,NM_004012.3|NM_004011.3|NM_004010.3|NM_004009.3|NM_004006.2|NM_000109.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DMD;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DMD:NM_004011:exon9:c.G1211A:p.R404H,DMD:NM_004012:exon9:c.G1202A:p.R401H,DMD:NM_000109:exon37:c.G5210A:p.R1737H,DMD:NM_004006:exon37:c.G5234A:p.R1745H,DMD:NM_004009:exon37:c.G5222A:p.R1741H,DMD:NM_004010:exon37:c.G4865A:p.R1622H;cytoBand=Xp21.1;genomicSuperDups=.;esp6500siv2_all=0.3331;esp6500siv2_ea=0.4770;esp6500siv2_all=0.3331;esp6500siv2_ea=0.4770;1000g2015aug_all=0.465166;avsnp147=rs1801187;Kaviar_AF=0.482982;Kaviar_AC=74670;Kaviar_AN=154602;ExAC_ALL=0.5142;ExAC_AFR=0.0782;ExAC_AMR=0.7450;ExAC_EAS=0.7371;ExAC_FIN=0.5348;ExAC_NFE=0.4823;ExAC_OTH=0.5008;ExAC_SAS=0.6657;CLNALLELEID=100557;CLNDN=Duchenne_muscular_dystrophy|Becker_muscular_dystrophy|Dilated_cardiomyopathy_3B|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED_CT:76670001|MedGen:C0917713,OMIM:300376,Orphanet:ORPHA98895,SNOMED_CT:387732009|MedGen:C3668940,OMIM:302045|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.006;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.997;Polyphen2_HVAR_pred=D;LRT_score=0.003;LRT_pred=U;MutationTaster_score=0.004;MutationTaster_pred=P;MutationAssessor_score=2.25;MutationAssessor_pred=M;FATHMM_score=0.74;FATHMM_pred=T;PROVEAN_score=-2.41;PROVEAN_pred=N;VEST3_score=0.4;CADD_raw=6.788;CADD_phred=32;DANN_score=1.000;fathmm-MKL_coding_score=0.961;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.904;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=5.24;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.892;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=0.940;SiPhy_29way_logOdds=17.920;GDI_full_10282015=.;dpsi_max_tissue=-0.4638;dpsi_zscore=-1.055;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.5294;gnomAD_exome_AFR=0.0713;gnomAD_exome_AMR=0.7287;gnomAD_exome_ASJ=0.4467;gnomAD_exome_EAS=0.7340;gnomAD_exome_FIN=0.5289;gnomAD_exome_NFE=0.4775;gnomAD_exome_OTH=0.5219;gnomAD_exome_SAS=0.6587;gnomAD_genome_ALL=0.3913;gnomAD_genome_AFR=0.0789;gnomAD_genome_AMR=0.6987;gnomAD_genome_ASJ=0.4293;gnomAD_genome_EAS=0.7234;gnomAD_genome_FIN=0.5224;gnomAD_genome_NFE=0.4730;gnomAD_genome_OTH=0.5245;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-3 GT:DP:CLCAD2 . . . 1/1:34:0,34 . 1/1:72:0,72 1:71:0,31 1/1:21:0,21 1/1:74:0,74 . 1/1:106:0,106 1/1:65:0,65 1/1:69:0,69 1:89:0,47 1:91:0,46 . 1/1:50:0,50 1/1:36:0,36 1:63:0,30 1/1:23:0,23 . . 1/1:43:0,43 1/1:40:0,40 1/1:76:0,76 . 1/1:35:0,35 1/1:91:0,91 1/1:83:0,83 1/1:53:0,53 1:90:0,46 1:59:0,34 1:58:0,29 1/1:27:0,27 1/1:33:0,33 1/1:67:0,67 . 1/1:65:0,65 1/1:32:0,32 . . 1/1:27:0,27 X 32398728 94637;rs398123965 C T 94.39 . #_unique_end_positions=,13;#_unique_start_positions=,10;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0;AF_EXAC_clinvar_20171029_hg19=,0.00015;AF_TGP_clinvar_20171029_hg19=,0.0005;ALLELEID_clinvar_20171029_hg19=,100537;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0;AN=1;Amino_acid_change=,NP_000100.2:p.Val1574Ile|_NP_004000.1:p.Val1578Ile|_NP_003997.1:p.Val1582Ile|_NP_004003.1:p.Val238Ile|_NP_004001.1:p.Val1459Ile|_NP_004002.2:p.Val241Ile;Amino_acid_change_in_longest_transcript=,NP_004001.1:p.Val1459Ile;BaseQRankSum=,-0.36;CLNDISDB_clinvar_20171029_hg19=,MedGen:C3668940|OMIM:302045|MedGen:CN169374|MedGen:CN517202;CLNDN_clinvar_20171029_hg19=,Dilated_cardiomyopathy_3B|not_specified|not_provided;CLNHGVS_clinvar_20171029_hg19=,NC_000023.10:g.32398728C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_conflicting_interpretations;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,ARUP_Laboratories|_Molecular_Genetics_and_Genomics:145300|Illumina_Clinical_Services_Laboratory|Illumina:669593;Coding_region_change=,NM_000109.3:c.4720G>A|_NM_004006.2:c.4744G>A|_NM_004009.3:c.4732G>A|_NM_004010.3:c.4375G>A|_NM_004011.3:c.721G>A|_NM_004012.3:c.712G>A;Coding_region_change_in_longest_transcript=,NM_004010.3:c.4375G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0;Exact_match=,clinvar_20171029_hg19|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,17;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:1756;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:1756;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:2928;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:2928;Homo_sapiens_refseq_GRCh37.p13_Genes=,DMD;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_004012.3|NM_004011.3|NM_004010.3|NM_004009.3|NM_004006.2|NM_000109.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene40014;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna59266|rna59265|rna59264|rna59263|rna59262|rna59261;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:300377;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:300377;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_2_substitutions_compared_to_this_genomic_sequence|The_RefSeq_transcript_has_3_substitutions_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene40014;QUAL=,94.39078872877568;Read_count=,15;Read_coverage=,38;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.6915787085629355;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_004012.3|NM_004011.3|NM_004010.3|NM_004009.3|NM_004006.2|NM_000109.3;Reverse_read_coverage=,21;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.002;SF=18;conservation_score=,0.979;db_xref=,GeneID:1756|HGNC:HGNC:2928|MIM:300377;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_004012.3|Genbank:NM_004011.3|Genbank:NM_004010.3|Genbank:NM_004009.3|Genbank:NM_004006.2|Genbank:NM_000109.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,dystrophin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,DMD;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,DMD;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,BMD|CMD3B|DXS142|DXS164|DXS206|DXS230|DXS239|DXS268|DXS269|DXS270|DXS272|MRX85;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,dystrophin|_transcript_variant_Dp260-2|dystrophin|_transcript_variant_Dp260-1|dystrophin|_transcript_variant_Dp427p2|dystrophin|_transcript_variant_Dp427p1|dystrophin|_transcript_variant_Dp427m|dystrophin|_transcript_variant_Dp427c;transcript_id=,NM_004012.3|NM_004011.3|NM_004010.3|NM_004009.3|NM_004006.2|NM_000109.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DMD;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DMD:NM_004011:exon6:c.G721A:p.V241I,DMD:NM_004012:exon6:c.G712A:p.V238I,DMD:NM_000109:exon34:c.G4720A:p.V1574I,DMD:NM_004006:exon34:c.G4744A:p.V1582I,DMD:NM_004009:exon34:c.G4732A:p.V1578I,DMD:NM_004010:exon34:c.G4375A:p.V1459I;cytoBand=Xp21.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.000529801;avsnp147=rs398123965;Kaviar_AF=0.0001617;Kaviar_AC=25;Kaviar_AN=154602;ExAC_ALL=0.0001;ExAC_AFR=0.0001;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0;ExAC_OTH=0;ExAC_SAS=0.0012;CLNALLELEID=100537;CLNDN=Duchenne_muscular_dystrophy|Dilated_cardiomyopathy_3B|not_specified;CLNDISDB=MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED_CT:76670001|MedGen:C3668940,OMIM:302045|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.74;SIFT_pred=T;Polyphen2_HDIV_score=0.07;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.032;Polyphen2_HVAR_pred=B;LRT_score=0.747;LRT_pred=U;MutationTaster_score=0.999;MutationTaster_pred=N;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=0.76;FATHMM_pred=T;PROVEAN_score=-0.12;PROVEAN_pred=N;VEST3_score=0.088;CADD_raw=2.357;CADD_phred=18.54;DANN_score=0.320;fathmm-MKL_coding_score=0.908;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.084;MetaSVM_pred=T;MetaLR_score=0.071;MetaLR_pred=T;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=4.48;phyloP7way_vertebrate=0.868;phyloP20way_mammalian=0.890;phastCons7way_vertebrate=0.997;phastCons20way_mammalian=0.987;SiPhy_29way_logOdds=7.605;GDI_full_10282015=.;dpsi_max_tissue=2.0203;dpsi_zscore=1.974;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0001;gnomAD_exome_AFR=8.175e-05;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=1.255e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0.0013;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=4 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . 1:30:0,13 . . . . . . . . . . . . . . . . . . . . . . . X 32490403 94539;rs199986217 G A 98.22 . #_unique_end_positions=,19;#_unique_start_positions=,17;AC=2;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0;AF_ESP_clinvar_20171029_hg19=,0.0003;AF_EXAC_clinvar_20171029_hg19=,0.00017;AF_TGP_clinvar_20171029_hg19=,0.0003;ALLELEID_clinvar_20171029_hg19=,100439;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0;AN=2;Amino_acid_change=,NP_000100.2:p.Arg935Cys|_NP_004000.1:p.Arg939Cys|_NP_004001.1:p.Arg820Cys|_NP_003997.1:p.Arg943Cys;Amino_acid_change_in_longest_transcript=,NP_004001.1:p.Arg820Cys;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000023.10:g.32490403G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;Coding_region_change=,NM_000109.3:c.2803C>T|_NM_004006.2:c.2827C>T|_NM_004009.3:c.2815C>T|_NM_004010.3:c.2458C>T;Coding_region_change_in_longest_transcript=,NM_004010.3:c.2458C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.001;Exact_match=,clinvar_20171029_hg19|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,14;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:1756;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:1756;Genotype=,A/A;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:2928;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:2928;Homo_sapiens_refseq_GRCh37.p13_Genes=,DMD;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_004010.3|NM_004009.3|NM_004006.2|NM_000109.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene40014;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna59264|rna59263|rna59262|rna59261;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:300377;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:300377;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_3_substitutions_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene40014;QUAL=,98.21823379193418;Read_count=,26;Read_coverage=,26;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_004010.3|NM_004009.3|NM_004006.2|NM_000109.3;Reverse_read_coverage=,12;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0;SF=21;conservation_score=,0.87;db_xref=,GeneID:1756|HGNC:HGNC:2928|MIM:300377;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_004010.3|Genbank:NM_004009.3|Genbank:NM_004006.2|Genbank:NM_000109.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,dystrophin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,DMD;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,DMD;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,BMD|CMD3B|DXS142|DXS164|DXS206|DXS230|DXS239|DXS268|DXS269|DXS270|DXS272|MRX85;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,dystrophin|_transcript_variant_Dp427p2|dystrophin|_transcript_variant_Dp427p1|dystrophin|_transcript_variant_Dp427m|dystrophin|_transcript_variant_Dp427c;transcript_id=,NM_004010.3|NM_004009.3|NM_004006.2|NM_000109.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DMD;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DMD:NM_000109:exon22:c.C2803T:p.R935C,DMD:NM_004006:exon22:c.C2827T:p.R943C,DMD:NM_004009:exon22:c.C2815T:p.R939C,DMD:NM_004010:exon22:c.C2458T:p.R820C;cytoBand=Xp21.1;genomicSuperDups=.;esp6500siv2_all=0.0003;esp6500siv2_ea=0.0004;esp6500siv2_all=0.0003;esp6500siv2_ea=0.0004;1000g2015aug_all=0.000264901;avsnp147=rs199986217;Kaviar_AF=0.0002135;Kaviar_AC=33;Kaviar_AN=154602;ExAC_ALL=0.0002;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0003;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=100439;CLNDN=Duchenne_muscular_dystrophy|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED_CT:76670001|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.014;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.877;Polyphen2_HVAR_pred=P;LRT_score=0.003;LRT_pred=U;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=0.895;MutationAssessor_pred=L;FATHMM_score=0.61;FATHMM_pred=T;PROVEAN_score=-2.95;PROVEAN_pred=D;VEST3_score=0.536;CADD_raw=6.261;CADD_phred=28.9;DANN_score=0.999;fathmm-MKL_coding_score=0.972;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.726;MetaSVM_pred=T;MetaLR_score=0.192;MetaLR_pred=T;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=5.05;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.902;phastCons7way_vertebrate=0.899;phastCons20way_mammalian=0.973;SiPhy_29way_logOdds=17.601;GDI_full_10282015=.;dpsi_max_tissue=-1.2184;dpsi_zscore=-1.588;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM153226#"Stargardt_macular_dystrophy";gnomAD_exome_ALL=0.0002;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0004;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0.0002;gnomAD_genome_ALL=0.0001;gnomAD_genome_AFR=0.0002;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0002;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=5 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . 1/1:23:0,23 . . . . . . . . . . . . . . . . . . . . X 32503194 166842;rs228406 T C 167.64 . #_unique_end_positions=,24;#_unique_start_positions=,22;AC=54;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.4834;ALLELEID_clinvar_20171029_hg19=,177575;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5893;AN=54;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_003997.1:p.Asp882Gly|_NP_004001.1:p.Asp759Gly|_NP_004000.1:p.Asp878Gly|_NP_000100.2:p.Asp874Gly;Amino_acid_change_in_longest_transcript=,NP_004001.1:p.Asp759Gly;BaseQRankSum=,0.0;CAF_dbsnp_common_v150_hg19_refseq=,0.2517|0.7483;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000023.10:g.32503194T>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,ARUP_Laboratories|_Molecular_Genetics_and_Genomics:47099;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000109.3:c.2621A>G|_NM_004006.2:c.2645A>G|_NM_004009.3:c.2633A>G|_NM_004010.3:c.2276A>G;Coding_region_change_in_longest_transcript=,NM_004010.3:c.2276A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.6607;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5219;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI;Forward_read_coverage=,10;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,DMD:1756;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:1756;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:1756;Genotype=,C/C;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:2928;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:2928;Homo_sapiens_refseq_GRCh37.p13_Genes=,DMD;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_004010.3|NM_004009.3|NM_004006.2|NM_000109.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene40014;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna59264|rna59263|rna59262|rna59261;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:300377;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:300377;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_3_substitutions_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene40014;QUAL=,113.05245174043588;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,32503194;RS_dbsnp_common_v150_hg19_refseq=,228406;Read_count=,30;Read_coverage=,30;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_004010.3|NM_004009.3|NM_004006.2|NM_000109.3;Reverse_read_coverage=,20;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.5992;SF=3,4,5,6,8,10,11,12,13,14,15,16,17,18,19,20,23,26,27,28,29,30,31,32,33,34,35,37,38,39,40,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050168000a0517053f100101;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.663265;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.914634;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.888235;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.795455;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.61236;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.86;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.646853;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.613636;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.992;db_xref=,GeneID:1756|HGNC:HGNC:2928|MIM:300377;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_004010.3|Genbank:NM_004009.3|Genbank:NM_004006.2|Genbank:NM_000109.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,dystrophin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,DMD;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,DMD;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,BMD|CMD3B|DXS142|DXS164|DXS206|DXS230|DXS239|DXS268|DXS269|DXS270|DXS272|MRX85;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,dystrophin|_transcript_variant_Dp427p2|dystrophin|_transcript_variant_Dp427p1|dystrophin|_transcript_variant_Dp427m|dystrophin|_transcript_variant_Dp427c;transcript_id=,NM_004010.3|NM_004009.3|NM_004006.2|NM_000109.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DMD;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DMD:NM_000109:exon21:c.A2621G:p.D874G,DMD:NM_004006:exon21:c.A2645G:p.D882G,DMD:NM_004009:exon21:c.A2633G:p.D878G,DMD:NM_004010:exon21:c.A2276G:p.D759G;cytoBand=Xp21.1;genomicSuperDups=.;esp6500siv2_all=0.6502;esp6500siv2_ea=0.6629;esp6500siv2_all=0.6502;esp6500siv2_ea=0.6629;1000g2015aug_all=0.748344;avsnp147=rs228406;Kaviar_AF=0.0004528;Kaviar_AC=70;Kaviar_AN=154602;ExAC_ALL=0.7211;ExAC_AFR=0.6282;ExAC_AMR=0.8661;ExAC_EAS=0.8837;ExAC_FIN=0.8215;ExAC_NFE=0.6644;ExAC_OTH=0.7211;ExAC_SAS=0.7829;CLNALLELEID=177575;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.523;SIFT_pred=T;Polyphen2_HDIV_score=0.004;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.013;Polyphen2_HVAR_pred=B;LRT_score=0.185;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=0.73;FATHMM_pred=T;PROVEAN_score=0.45;PROVEAN_pred=N;VEST3_score=0.056;CADD_raw=0.631;CADD_phred=8.366;DANN_score=0.803;fathmm-MKL_coding_score=0.573;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.978;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=3.07;phyloP7way_vertebrate=-2.035;phyloP20way_mammalian=-0.288;phastCons7way_vertebrate=0.802;phastCons20way_mammalian=0.978;SiPhy_29way_logOdds=5.710;GDI_full_10282015=.;dpsi_max_tissue=-0.0637;dpsi_zscore=-0.323;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.7295;gnomAD_exome_AFR=0.6262;gnomAD_exome_AMR=0.8538;gnomAD_exome_ASJ=0.6110;gnomAD_exome_EAS=0.8862;gnomAD_exome_FIN=0.8121;gnomAD_exome_NFE=0.6613;gnomAD_exome_OTH=0.7125;gnomAD_exome_SAS=0.7806;gnomAD_genome_ALL=0.6958;gnomAD_genome_AFR=0.6291;gnomAD_genome_AMR=0.8068;gnomAD_genome_ASJ=0.6243;gnomAD_genome_EAS=0.8869;gnomAD_genome_FIN=0.8215;gnomAD_genome_NFE=0.6750;gnomAD_genome_OTH=0.7336;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . 1/1:28:0,28 1/1:28:0,28 1:52:0,23 1/1:48:0,48 . 1:49:0,23 . 1/1:77:0,77 1:66:0,29 1/1:59:0,59 1:57:0,27 1:88:0,39 1/1:62:0,62 1/1:42:0,42 1/1:27:0,27 1:69:0,36 1/1:26:0,26 1/1:57:0,57 . . 1/1:23:0,23 . . 1/1:42:0,42 1:83:0,37 1/1:80:0,80 1/1:44:0,44 1:78:0,41 1:36:0,20 1/1:73:0,72 1/1:21:0,21 1/1:39:0,39 1/1:72:0,72 . 1:79:0,44 1/1:36:0,36 1/1:43:0,43 1/1:35:0,35 1/1:33:0,33 X 32509625 94510;rs72468681 A C 200.00 . #_unique_end_positions=,20;#_unique_start_positions=,14;AC=1;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0015;AF_ESP_clinvar_20171029_hg19=,0.0060;AF_EXAC_clinvar_20171029_hg19=,0.00767;AF_TGP_clinvar_20171029_hg19=,0.0029;ALLELEID_clinvar_20171029_hg19=,100410;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0;AN=1;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_004000.1:p.Asn793Lys|_NP_000100.2:p.Asn789Lys|_NP_004001.1:p.Asn674Lys|_NP_003997.1:p.Asn797Lys;Amino_acid_change_in_longest_transcript=,NP_004001.1:p.Asn674Lys;BaseQRankSum=,-0.72;CAF_dbsnp_common_v150_hg19_refseq=,0.9971|0.002914;CLNDISDB_clinvar_20171029_hg19=,EFO:EFO_0000407|Human_Phenotype_Ontology:HP:0001644|MedGen:CN001497|MedGen:C0013264|OMIM:310200|Orphanet:ORPHA98896|SNOMED_CT:76670001|MedGen:CN169374|MedGen:CN230736;CLNDN_clinvar_20171029_hg19=,Dilated_cardiomyopathy|Duchenne_muscular_dystrophy|not_specified|Cardiovascular_phenotype;CLNHGVS_clinvar_20171029_hg19=,NC_000023.10:g.32509625A>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000109.3:c.2367T>G|_NM_004006.2:c.2391T>G|_NM_004009.3:c.2379T>G|_NM_004010.3:c.2022T>G;Coding_region_change_in_longest_transcript=,NM_004010.3:c.2022T>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.008;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,11;GENEINFO_dbsnp_common_v150_hg19_refseq=,DMD:1756;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:1756;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:1756;Genotype=,A/C;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:2928;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:2928;Homo_sapiens_refseq_GRCh37.p13_Genes=,DMD;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_004010.3|NM_004009.3|NM_004006.2|NM_000109.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene40014;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna59264|rna59263|rna59262|rna59261;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:300377;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:300377;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_3_substitutions_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene40014;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,32509625;RS_dbsnp_common_v150_hg19_refseq=,72468681;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,31;Read_coverage=,67;Read_direction_test_probability=,0.809081533584478;Read_position_test_probability=,0.4589689891086265;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_004010.3|NM_004009.3|NM_004006.2|NM_000109.3;Reverse_read_coverage=,56;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.001;SF=14;SSR_dbsnp_common_v150_hg19_refseq=,0;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050028000a05040536000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.995;db_xref=,GeneID:1756|HGNC:HGNC:2928|MIM:300377;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_004010.3|Genbank:NM_004009.3|Genbank:NM_004006.2|Genbank:NM_000109.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,dystrophin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,DMD;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,DMD;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,BMD|CMD3B|DXS142|DXS164|DXS206|DXS230|DXS239|DXS268|DXS269|DXS270|DXS272|MRX85;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,dystrophin|_transcript_variant_Dp427p2|dystrophin|_transcript_variant_Dp427p1|dystrophin|_transcript_variant_Dp427m|dystrophin|_transcript_variant_Dp427c;transcript_id=,NM_004010.3|NM_004009.3|NM_004006.2|NM_000109.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DMD;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DMD:NM_000109:exon20:c.T2367G:p.N789K,DMD:NM_004006:exon20:c.T2391G:p.N797K,DMD:NM_004009:exon20:c.T2379G:p.N793K,DMD:NM_004010:exon20:c.T2022G:p.N674K;cytoBand=Xp21.1;genomicSuperDups=.;esp6500siv2_all=0.0060;esp6500siv2_ea=0.0083;esp6500siv2_all=0.0060;esp6500siv2_ea=0.0083;1000g2015aug_all=0.00291391;avsnp147=rs72468681;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=0.0077;ExAC_AFR=0.0025;ExAC_AMR=0.0019;ExAC_EAS=0;ExAC_FIN=0.0086;ExAC_NFE=0.0116;ExAC_OTH=0.0075;ExAC_SAS=0.0051;CLNALLELEID=100410;CLNDN=Primary_dilated_cardiomyopathy|Duchenne_muscular_dystrophy|not_specified|Cardiovascular_phenotype;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED_CT:76670001|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.832;SIFT_pred=T;Polyphen2_HDIV_score=0.856;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.554;Polyphen2_HVAR_pred=P;LRT_score=0.001;LRT_pred=U;MutationTaster_score=0.656;MutationTaster_pred=D;MutationAssessor_score=1.79;MutationAssessor_pred=L;FATHMM_score=1.35;FATHMM_pred=T;PROVEAN_score=-0.77;PROVEAN_pred=N;VEST3_score=0.162;CADD_raw=2.887;CADD_phred=21.8;DANN_score=0.978;fathmm-MKL_coding_score=0.864;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.942;MetaSVM_pred=T;MetaLR_score=0.058;MetaLR_pred=T;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=0.181;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=-0.132;phastCons7way_vertebrate=0.996;phastCons20way_mammalian=0.990;SiPhy_29way_logOdds=8.684;GDI_full_10282015=.;dpsi_max_tissue=-0.0802;dpsi_zscore=-0.385;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0065;gnomAD_exome_AFR=0.0018;gnomAD_exome_AMR=0.0018;gnomAD_exome_ASJ=0.0007;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0066;gnomAD_exome_NFE=0.0110;gnomAD_exome_OTH=0.0063;gnomAD_exome_SAS=0.0041;gnomAD_genome_ALL=0.0068;gnomAD_genome_AFR=0.0013;gnomAD_genome_AMR=0.0016;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0057;gnomAD_genome_NFE=0.0112;gnomAD_genome_OTH=0.0083;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-10 GT:DP:CLCAD2 . . . . . . . . . . . . . . 1:61:0,28 . . . . . . . . . . . . . . . . . . . . . . . . . . . X 32591931 94476;rs5927083 T C 176.06 . #_unique_end_positions=,25;#_unique_start_positions=,20;AC=4;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1362;AF_ESP_clinvar_20171029_hg19=,0.1335;AF_EXAC_clinvar_20171029_hg19=,0.11654;AF_TGP_clinvar_20171029_hg19=,0.1105;ALLELEID_clinvar_20171029_hg19=,100376;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0504;AN=4;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.12;CAF_dbsnp_common_v150_hg19_refseq=,0.8895|0.1105;CLNDISDB_clinvar_20171029_hg19=,MedGen:C3668940|OMIM:302045|MedGen:CN169374|MedGen:CN230736;CLNDN_clinvar_20171029_hg19=,Dilated_cardiomyopathy_3B|not_specified|Cardiovascular_phenotype;CLNHGVS_clinvar_20171029_hg19=,NC_000023.10:g.32591931T>C;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,ARUP_Laboratories|_Molecular_Genetics_and_Genomics:51225|HGMD:CS081890|Illumina_Clinical_Services_Laboratory|Illumina:59454;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000109.3:c.1611A>G|_NM_004006.2:c.1635A>G|_NM_004009.3:c.1623A>G|_NM_004010.3:c.1266A>G;Coding_region_change_in_longest_transcript=,NM_004010.3:c.1266A>G;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0149;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0865;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CEU|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-HCB|HAPMAP_phase_3_ensembl_v87_hg19-JPT|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI|HAPMAP_phase_3_ensembl_v87_hg19-YRI;Forward_read_coverage=,33;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,DMD:1756;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:1756;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:1756;Genotype=,C/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:2928;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:2928;Homo_sapiens_refseq_GRCh37.p13_Genes=,DMD;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_004010.3|NM_004009.3|NM_004006.2|NM_000109.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene40014;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna59264|rna59263|rna59262|rna59261;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:300377;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:300377;Non-synonymous=,No;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_3_substitutions_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene40014;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,32591931;RS_dbsnp_common_v150_hg19_refseq=,5927083;Read_count=,35;Read_coverage=,79;Read_direction_test_probability=,0.9937240261470713;Read_position_test_probability=,0.8641034621591546;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_004010.3|NM_004009.3|NM_004006.2|NM_000109.3;Reverse_read_coverage=,46;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1022;SF=5,29,37;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050128000305150537000100;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.153061;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CEU=,0.119469;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.0609756;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.0176471;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.107955;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-HCB=,0.0348837;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-JPT=,0.0;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.133333;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.02;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.108392;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.12069;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-YRI=,0.132743;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.01;db_xref=,GeneID:1756|HGNC:HGNC:2928|MIM:300377;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_004010.3|Genbank:NM_004009.3|Genbank:NM_004006.2|Genbank:NM_000109.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,dystrophin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,DMD;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,DMD;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,BMD|CMD3B|DXS142|DXS164|DXS206|DXS230|DXS239|DXS268|DXS269|DXS270|DXS272|MRX85;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,dystrophin|_transcript_variant_Dp427p2|dystrophin|_transcript_variant_Dp427p1|dystrophin|_transcript_variant_Dp427m|dystrophin|_transcript_variant_Dp427c;transcript_id=,NM_004010.3|NM_004009.3|NM_004006.2|NM_000109.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DMD;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DMD:NM_000109:exon14:c.A1611G:p.R537R,DMD:NM_004006:exon14:c.A1635G:p.R545R,DMD:NM_004009:exon14:c.A1623G:p.R541R,DMD:NM_004010:exon14:c.A1266G:p.R422R;cytoBand=Xp21.1;genomicSuperDups=.;esp6500siv2_all=0.1335;esp6500siv2_ea=0.1225;esp6500siv2_all=0.1335;esp6500siv2_ea=0.1225;1000g2015aug_all=0.110464;avsnp147=rs5927083;Kaviar_AF=8.41e-05;Kaviar_AC=13;Kaviar_AN=154602;ExAC_ALL=0.1165;ExAC_AFR=0.1656;ExAC_AMR=0.0405;ExAC_EAS=0.0222;ExAC_FIN=0.1147;ExAC_NFE=0.1329;ExAC_OTH=0.1041;ExAC_SAS=0.1332;CLNALLELEID=100376;CLNDN=Duchenne_muscular_dystrophy|Becker_muscular_dystrophy|Dilated_cardiomyopathy_3B|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED_CT:76670001|MedGen:C0917713,OMIM:300376,Orphanet:ORPHA98895,SNOMED_CT:387732009|MedGen:C3668940,OMIM:302045|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-1.1331;dpsi_zscore=-1.546;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CS081890#"Muscular_dystrophy_Becker";gnomAD_exome_ALL=0.1069;gnomAD_exome_AFR=0.1593;gnomAD_exome_AMR=0.0453;gnomAD_exome_ASJ=0.1544;gnomAD_exome_EAS=0.0187;gnomAD_exome_FIN=0.0987;gnomAD_exome_NFE=0.1272;gnomAD_exome_OTH=0.1130;gnomAD_exome_SAS=0.1214;gnomAD_genome_ALL=0.1241;gnomAD_genome_AFR=0.1634;gnomAD_genome_AMR=0.0583;gnomAD_genome_ASJ=0.0914;gnomAD_genome_EAS=0.0134;gnomAD_genome_FIN=0.0885;gnomAD_genome_NFE=0.1269;gnomAD_genome_OTH=0.1169;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-6 GT:DP:CLCAD2 . . . . . 1:65:0,28 . . . . . . . . . . . . . . . . . . . . . . . 1/1:33:0,33 . . . . . . . 1:62:0,25 . . . . X 32591950 368251 C T 148.75 . #_unique_end_positions=,20;#_unique_start_positions=,12;AC=1;ALLELEID_clinvar_20171029_hg19=,352220;AN=1;Amino_acid_change=,NP_003997.1:p.Arg539Gln|_NP_004000.1:p.Arg535Gln|_NP_004001.1:p.Arg416Gln|_NP_000100.2:p.Arg531Gln;Amino_acid_change_in_longest_transcript=,NP_004001.1:p.Arg416Gln;BaseQRankSum=,0.22;CLNDISDB_clinvar_20171029_hg19=,MedGen:C3668940|OMIM:302045;CLNDN_clinvar_20171029_hg19=,Dilated_cardiomyopathy_3B;CLNHGVS_clinvar_20171029_hg19=,NC_000023.10:g.32591950C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_single_submitter;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:764765;Coding_region_change=,NM_000109.3:c.1592G>A|_NM_004006.2:c.1616G>A|_NM_004009.3:c.1604G>A|_NM_004010.3:c.1247G>A;Coding_region_change_in_longest_transcript=,NM_004010.3:c.1247G>A;Exact_match=,clinvar_20171029_hg19;Forward_read_coverage=,8;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:1756;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:1756;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:2928;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:2928;Homo_sapiens_refseq_GRCh37.p13_Genes=,DMD;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_004010.3|NM_004009.3|NM_004006.2|NM_000109.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene40014;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna59264|rna59263|rna59262|rna59261;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:300377;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:300377;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_3_substitutions_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene40014;QUAL=,148.75408524143378;Read_count=,22;Read_coverage=,50;Read_direction_test_probability=,0.8999790475705007;Read_position_test_probability=,0.7316503169418067;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_004010.3|NM_004009.3|NM_004006.2|NM_000109.3;Reverse_read_coverage=,42;SF=13;conservation_score=,1.0;db_xref=,GeneID:1756|HGNC:HGNC:2928|MIM:300377;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_004010.3|Genbank:NM_004009.3|Genbank:NM_004006.2|Genbank:NM_000109.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,dystrophin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,DMD;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,DMD;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,BMD|CMD3B|DXS142|DXS164|DXS206|DXS230|DXS239|DXS268|DXS269|DXS270|DXS272|MRX85;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,dystrophin|_transcript_variant_Dp427p2|dystrophin|_transcript_variant_Dp427p1|dystrophin|_transcript_variant_Dp427m|dystrophin|_transcript_variant_Dp427c;transcript_id=,NM_004010.3|NM_004009.3|NM_004006.2|NM_000109.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DMD;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DMD:NM_000109:exon14:c.G1592A:p.R531Q,DMD:NM_004006:exon14:c.G1616A:p.R539Q,DMD:NM_004009:exon14:c.G1604A:p.R535Q,DMD:NM_004010:exon14:c.G1247A:p.R416Q;cytoBand=Xp21.1;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=352220;CLNDN=Dilated_cardiomyopathy_3B;CLNDISDB=MedGen:C3668940,OMIM:302045;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.343;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.998;Polyphen2_HVAR_pred=D;LRT_score=0.019;LRT_pred=U;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=2.625;MutationAssessor_pred=M;FATHMM_score=1.16;FATHMM_pred=T;PROVEAN_score=-0.32;PROVEAN_pred=N;VEST3_score=0.774;CADD_raw=6.992;CADD_phred=33;DANN_score=0.999;fathmm-MKL_coding_score=0.986;fathmm-MKL_coding_pred=D;MetaSVM_score=1.063;MetaSVM_pred=D;MetaLR_score=0.928;MetaLR_pred=D;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=5.2;phyloP7way_vertebrate=0.868;phyloP20way_mammalian=0.801;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=0.999;SiPhy_29way_logOdds=17.937;GDI_full_10282015=.;dpsi_max_tissue=-0.3934;dpsi_zscore=-0.975;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=1.13e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=3.784e-05;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=1.262e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=10 GT:DP:CLCAD2 . . . . . . . . . . . . . 1:47:0,21 . . . . . . . . . . . . . . . . . . . . . . . . . . . . X 32663135 282487 T G 200.00 . #_unique_end_positions=,26;#_unique_start_positions=,25;AC=1;AF_ESP_clinvar_20171029_hg19=,0.0007;AF_EXAC_clinvar_20171029_hg19=,0.00062;ALLELEID_clinvar_20171029_hg19=,266724;AN=1;Amino_acid_change=,NP_003997.1:p.Gln365His|_NP_004001.1:p.Gln242His|_NP_000100.2:p.Gln357His|_NP_004000.1:p.Gln361His;Amino_acid_change_in_longest_transcript=,NP_004001.1:p.Gln242His;BaseQRankSum=,0.36;CLNDISDB_clinvar_20171029_hg19=,MedGen:C0013264|OMIM:310200|Orphanet:ORPHA98896|SNOMED_CT:76670001|MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,Duchenne_muscular_dystrophy|not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000023.10:g.32663135T>G;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;Coding_region_change=,NM_000109.3:c.1071A>C|_NM_004006.2:c.1095A>C|_NM_004009.3:c.1083A>C|_NM_004010.3:c.726A>C;Coding_region_change_in_longest_transcript=,NM_004010.3:c.726A>C;Exact_match=,clinvar_20171029_hg19;Forward_read_coverage=,42;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:1756;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:1756;Genotype=,G/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:2928;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:2928;Homo_sapiens_refseq_GRCh37.p13_Genes=,DMD;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_004010.3|NM_004009.3|NM_004006.2|NM_000109.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene40014;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna59264|rna59263|rna59262|rna59261;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:300377;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:300377;Non-synonymous=,Yes;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_3_substitutions_compared_to_this_genomic_sequence;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene40014;QUAL=,200.0;Read_count=,36;Read_coverage=,84;Read_direction_test_probability=,0.8065414401773269;Read_position_test_probability=,0.8704878445965458;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_004010.3|NM_004009.3|NM_004006.2|NM_000109.3;Reverse_read_coverage=,42;SF=11;conservation_score=,0.998;db_xref=,GeneID:1756|HGNC:HGNC:2928|MIM:300377;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_004010.3|Genbank:NM_004009.3|Genbank:NM_004006.2|Genbank:NM_000109.3;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,dystrophin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,DMD;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,DMD;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,BMD|CMD3B|DXS142|DXS164|DXS206|DXS230|DXS239|DXS268|DXS269|DXS270|DXS272|MRX85;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,dystrophin|_transcript_variant_Dp427p2|dystrophin|_transcript_variant_Dp427p1|dystrophin|_transcript_variant_Dp427m|dystrophin|_transcript_variant_Dp427c;transcript_id=,NM_004010.3|NM_004009.3|NM_004006.2|NM_000109.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DMD;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DMD:NM_000109:exon10:c.A1071C:p.Q357H,DMD:NM_004006:exon10:c.A1095C:p.Q365H,DMD:NM_004009:exon10:c.A1083C:p.Q361H,DMD:NM_004010:exon10:c.A726C:p.Q242H;cytoBand=Xp21.1;genomicSuperDups=.;esp6500siv2_all=0.0007;esp6500siv2_ea=0.0009;esp6500siv2_all=0.0007;esp6500siv2_ea=0.0009;1000g2015aug_all=.;avsnp147=rs1800266;Kaviar_AF=0.0005757;Kaviar_AC=89;Kaviar_AN=154602;ExAC_ALL=0.0006;ExAC_AFR=0.0002;ExAC_AMR=0.0001;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0006;ExAC_OTH=0.0032;ExAC_SAS=0.0018;CLNALLELEID=266724;CLNDN=Duchenne_muscular_dystrophy|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED_CT:76670001|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.009;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.998;Polyphen2_HVAR_pred=D;LRT_score=0.003;LRT_pred=U;MutationTaster_score=0.997;MutationTaster_pred=D;MutationAssessor_score=2.35;MutationAssessor_pred=M;FATHMM_score=0.69;FATHMM_pred=T;PROVEAN_score=-2.68;PROVEAN_pred=D;VEST3_score=0.652;CADD_raw=4.306;CADD_phred=24.0;DANN_score=0.993;fathmm-MKL_coding_score=0.932;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.665;MetaSVM_pred=T;MetaLR_score=0.255;MetaLR_pred=T;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=0.443;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=0.141;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=0.999;SiPhy_29way_logOdds=9.100;GDI_full_10282015=.;dpsi_max_tissue=-0.1998;dpsi_zscore=-0.687;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0005;gnomAD_exome_AFR=0.0002;gnomAD_exome_AMR=0.0001;gnomAD_exome_ASJ=0.0003;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0006;gnomAD_exome_OTH=0.0017;gnomAD_exome_SAS=0.0015;gnomAD_genome_ALL=0.0003;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0005;gnomAD_genome_OTH=0.0014;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:DP:CLCAD2 . . . . . . . . . . . 1:74:0,33 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . X 108867996 419988 C T 200.00 . #_unique_end_positions=,34;#_unique_start_positions=,32;AC=1;ALLELEID_clinvar_20171029_hg19=,411092;AN=1;Amino_acid_change=,NP_036414.1:p.Arg85His;Amino_acid_change_in_longest_transcript=,NP_036414.1:p.Arg85His;BaseQRankSum=,-0.18;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000023.10:g.108867996C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_single_submitter;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;Coding_region_change=,NM_012282.3:c.254G>A;Coding_region_change_in_longest_transcript=,NM_012282.3:c.254G>A;Exact_match=,clinvar_20171029_hg19;Forward_read_coverage=,84;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:23630;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:23630;Genotype=,C/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:6241;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:6241;Homo_sapiens_refseq_GRCh37.p13_Genes=,KCNE5;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_012282.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene40960;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna60393;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:300328;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:300328;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene40960;QUAL=,200.0;Read_count=,66;Read_coverage=,170;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9791552224157754;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_012282.3;Reverse_read_coverage=,86;SF=32;conservation_score=,1.0;db_xref=,GeneID:23630|HGNC:HGNC:6241|MIM:300328;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:02268;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_012282.3|HPRD:02268;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,potassium_voltage-gated_channel_subfamily_E_regulatory_subunit_5;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,KCNE5;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,KCNE5;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,KCNE1L;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,potassium_voltage-gated_channel_subfamily_E_regulatory_subunit_5;transcript_id=,NM_012282.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KCNE5;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=KCNE5:NM_012282:exon1:c.G254A:p.R85H;cytoBand=Xq23;genomicSuperDups=.;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs750897913;Kaviar_AF=3.88e-05;Kaviar_AC=6;Kaviar_AN=154602;ExAC_ALL=4.308e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=7.974e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.997;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.994;MutationTaster_pred=D;MutationAssessor_score=1.59;MutationAssessor_pred=L;FATHMM_score=-1.15;FATHMM_pred=T;PROVEAN_score=-4.58;PROVEAN_pred=D;VEST3_score=0.59;CADD_raw=7.190;CADD_phred=34;DANN_score=0.999;fathmm-MKL_coding_score=0.793;fathmm-MKL_coding_pred=D;MetaSVM_score=0.198;MetaSVM_pred=D;MetaLR_score=0.566;MetaLR_pred=D;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=4.8;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.932;phastCons7way_vertebrate=0.988;phastCons20way_mammalian=0.999;SiPhy_29way_logOdds=17.341;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM142060#"Atrial_fibrillation_lone_early-onset";gnomAD_exome_ALL=2.868e-05;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=6.475e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=4.659e-05;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=9.649e-05;gnomAD_genome_OTH=0;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=10 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1:147:0,58 . . . . . . . . . X 108868153 381189;rs17003955 G A 200.00 . #_unique_end_positions=,55;#_unique_start_positions=,49;AC=11;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0023;ALLELEID_clinvar_20171029_hg19=,378909;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0447;AN=11;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_036414.1:p.Pro33Ser;Amino_acid_change_in_longest_transcript=,NP_036414.1:p.Pro33Ser;BaseQRankSum=,-0.45;CAF_dbsnp_common_v150_hg19_refseq=,0.9481|0.05192;CLNDISDB_clinvar_20171029_hg19=,MedGen:CN169374;CLNDN_clinvar_20171029_hg19=,not_specified;CLNHGVS_clinvar_20171029_hg19=,NC_000023.10:g.108868153G>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_single_submitter;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_012282.3:c.97C>T;Coding_region_change_in_longest_transcript=,NM_012282.3:c.97C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.001;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.1292;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,148;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,KCNE5:23630;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:23630;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:23630;Genotype=,A/G;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:6241;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:6241;Homo_sapiens_refseq_GRCh37.p13_Genes=,KCNE5;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_012282.3;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene40960;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna60393;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:300328;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:300328;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene40960;QUAL=,200.0;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,108868153;RS_dbsnp_common_v150_hg19_refseq=,17003955;Read_count=,135;Read_coverage=,262;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9976415118405657;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_012282.3;Reverse_read_coverage=,114;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0317;SF=10,13,14,18,28,32,39,41;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;TPA_dbsnp_common_v150_hg19_refseq=,TPA;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050138000a05150536000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.005;db_xref=,GeneID:23630|HGNC:HGNC:6241|MIM:300328;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:02268;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_012282.3|HPRD:02268;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,potassium_voltage-gated_channel_subfamily_E_regulatory_subunit_5;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,KCNE5;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,KCNE5;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,KCNE1L;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,potassium_voltage-gated_channel_subfamily_E_regulatory_subunit_5;transcript_id=,NM_012282.3;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KCNE5;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=KCNE5:NM_012282:exon1:c.C97T:p.P33S;cytoBand=Xq23;genomicSuperDups=.;esp6500siv2_all=0.0968;esp6500siv2_ea=0.1424;esp6500siv2_all=0.0968;esp6500siv2_ea=0.1424;1000g2015aug_all=0.0519205;avsnp147=rs17003955;Kaviar_AF=0.0867841;Kaviar_AC=13417;Kaviar_AN=154602;ExAC_ALL=0.1248;ExAC_AFR=0.0241;ExAC_AMR=0.0527;ExAC_EAS=0.0005;ExAC_FIN=0.1572;ExAC_NFE=0.1836;ExAC_OTH=0.1616;ExAC_SAS=0.0647;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.405;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_pred=B;LRT_score=0.610;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=-0.37;FATHMM_pred=T;PROVEAN_score=-0.8;PROVEAN_pred=N;VEST3_score=0.048;CADD_raw=-2.020;CADD_phred=0.001;DANN_score=0.759;fathmm-MKL_coding_score=0.121;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.091;MetaSVM_pred=T;MetaLR_score=0.001;MetaLR_pred=T;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=1.04;phyloP7way_vertebrate=-1.392;phyloP20way_mammalian=0.076;phastCons7way_vertebrate=0.000;phastCons20way_mammalian=0.257;SiPhy_29way_logOdds=0.560;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.1098;gnomAD_exome_AFR=0.0186;gnomAD_exome_AMR=0.0493;gnomAD_exome_ASJ=0.1979;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0.1285;gnomAD_exome_NFE=0.1677;gnomAD_exome_OTH=0.1245;gnomAD_exome_SAS=0.0565;gnomAD_genome_ALL=0.0983;gnomAD_genome_AFR=0.0188;gnomAD_genome_AMR=0.0522;gnomAD_genome_ASJ=0.2147;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.1213;gnomAD_genome_NFE=0.1475;gnomAD_genome_OTH=0.1304;Whole_Blood=Whole_Blood::0.128134::0.178;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . . . 1:221:0,113 . . 1:228:0,135 1:313:0,157 . . . 1:187:0,92 . . . . . . . . . 1/1:238:0,238 . . . 1:193:0,94 . . . . . . 1/1:111:0,111 . 1/1:81:0,81 X 119573071 45573;rs144140265 C T 131.47 . #_unique_end_positions=,28;#_unique_start_positions=,20;AC=2;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0;AF_ESP_clinvar_20171029_hg19=,0.0045;AF_EXAC_clinvar_20171029_hg19=,0.00406;AF_TGP_clinvar_20171029_hg19=,0.0024;ALLELEID_clinvar_20171029_hg19=,54739;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0043;AN=2;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,NP_054701.1:p.Val391Ile;Amino_acid_change_in_longest_transcript=,;CAF_dbsnp_common_v150_hg19_refseq=,0.9976|0.002384;CLNDISDB_clinvar_20171029_hg19=,MedGen:C0878677|OMIM:300257|Orphanet:ORPHA34587|SNOMED_CT:419097006|MedGen:CN169374|MedGen:CN517202;CLNDN_clinvar_20171029_hg19=,Danon_disease|not_specified|not_provided;CLNHGVS_clinvar_20171029_hg19=,NC_000023.10:g.119573071C>T;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001122606.1:c.1093+2514G>A|_NM_002294.2:c.1093+2514G>A|_NM_013995.2:c.1171G>A;Coding_region_change_in_longest_transcript=,NM_002294.2:c.1093+2514G>A;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.001;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.004;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,26;GENEINFO_dbsnp_common_v150_hg19_refseq=,LAMP2:3920;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:3920;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:3920;Genotype=,T/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:6501;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:6501;Homo_sapiens_refseq_GRCh37.p13_Genes=,LAMP2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_013995.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene41102;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna60588;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;LSD_dbsnp_common_v150_hg19_refseq=,LSD;MC_clinvar_20171029_hg19=,SO:0001583|missense_variant|SO:0001627|intron_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:309060;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:309060;NSM_dbsnp_common_v150_hg19_refseq=,NSM;Non-synonymous=,Yes;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene41102;QUAL=,131.47054742122148;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,119573071;RS_dbsnp_common_v150_hg19_refseq=,144140265;Read_count=,34;Read_coverage=,34;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_013995.2;Reverse_read_coverage=,8;SAO_dbsnp_common_v150_hg19_refseq=,1;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.001;SF=20;SSR_dbsnp_common_v150_hg19_refseq=,0;TOPMED_dbsnp_common_v150_hg19_refseq=,0.997046|0.0029537;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x050068080a05040436100100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,1.0;db_xref=,GeneID:3920|HGNC:HGNC:6501|MIM:309060;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:02396;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_013995.2|HPRD:02396;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lysosomal_associated_membrane_protein_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LAMP2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,LAMP2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CD107b|LAMP-2|LAMPB|LGP110;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,lysosomal_associated_membrane_protein_2|_transcript_variant_B;transcript_id=,NM_013995.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMP2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMP2:NM_013995:exon9:c.G1171A:p.V391I;cytoBand=Xq24;genomicSuperDups=.;esp6500siv2_all=0.0044;esp6500siv2_ea=0.0065;esp6500siv2_all=0.0044;esp6500siv2_ea=0.0065;1000g2015aug_all=0.00238411;avsnp147=rs144140265;Kaviar_AF=0.004282;Kaviar_AC=662;Kaviar_AN=154602;ExAC_ALL=0.0041;ExAC_AFR=0.0006;ExAC_AMR=0.0009;ExAC_EAS=0.0003;ExAC_FIN=0.0013;ExAC_NFE=0.0061;ExAC_OTH=0.0047;ExAC_SAS=0.0038;CLNALLELEID=54739;CLNDN=Danon_disease|not_specified|not_provided;CLNDISDB=MedGen:C0878677,OMIM:300257,Orphanet:ORPHA34587,SNOMED_CT:419097006|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.003;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.004;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=-0.605;MutationAssessor_pred=N;FATHMM_score=1.61;FATHMM_pred=T;PROVEAN_score=0.43;PROVEAN_pred=N;VEST3_score=0.172;CADD_raw=2.464;CADD_phred=19.23;DANN_score=0.538;fathmm-MKL_coding_score=0.741;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.982;MetaSVM_pred=T;MetaLR_score=0.016;MetaLR_pred=T;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=3.5;phyloP7way_vertebrate=0.033;phyloP20way_mammalian=0.892;phastCons7way_vertebrate=0.999;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=4.286;GDI_full_10282015=.;dpsi_max_tissue=.;dpsi_zscore=.;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=id:CM152320#"Vacuolar_myopathy";gnomAD_exome_ALL=0.0039;gnomAD_exome_AFR=0.0007;gnomAD_exome_AMR=0.0007;gnomAD_exome_ASJ=0.0007;gnomAD_exome_EAS=0.0003;gnomAD_exome_FIN=0.0013;gnomAD_exome_NFE=0.0069;gnomAD_exome_OTH=0.0035;gnomAD_exome_SAS=0.0037;gnomAD_genome_ALL=0.0033;gnomAD_genome_AFR=0.0008;gnomAD_genome_AMR=0.0017;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0.0010;gnomAD_genome_FIN=0.0034;gnomAD_genome_NFE=0.0051;gnomAD_genome_OTH=0.0028;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . . . . . 1/1:34:0,34 . . . . . . . . . . . . . . . . . . . . . X 119590533 44416;rs12097 T A 74.92 . #_unique_end_positions=,10;#_unique_start_positions=,10;AC=25;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2466;AF_ESP_clinvar_20171029_hg19=,0.3986;AF_EXAC_clinvar_20171029_hg19=,0.42800;AF_TGP_clinvar_20171029_hg19=,0.3809;ALLELEID_clinvar_20171029_hg19=,53583;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2622;AN=25;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;BaseQRankSum=,-0.39;CAF_dbsnp_common_v150_hg19_refseq=,0.6191|0.3809;CLNDISDB_clinvar_20171029_hg19=,Human_Phenotype_Ontology:HP:0001639|MedGen:C0007194|Orphanet:ORPHA217569|MedGen:C0878677|OMIM:300257|Orphanet:ORPHA34587|SNOMED_CT:419097006|MedGen:CN169374|MedGen:CN230736;CLNDN_clinvar_20171029_hg19=,Hypertrophic_cardiomyopathy|Danon_disease|not_specified|Cardiovascular_phenotype;CLNHGVS_clinvar_20171029_hg19=,NC_000023.10:g.119590533T>A;CLNREVSTAT_clinvar_20171029_hg19=,criteria_provided|_multiple_submitters|_no_conflicts;CLNVCSO_clinvar_20171029_hg19=,SO:0001483;CLNVC_clinvar_20171029_hg19=,single_nucleotide_variant;CLNVI_clinvar_20171029_hg19=,Illumina_Clinical_Services_Laboratory|Illumina:47207;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_001122606.1:c.156A>T|_NM_002294.2:c.156A>T|_NM_013995.2:c.156A>T;Coding_region_change_in_longest_transcript=,NM_002294.2:c.156A>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2817;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.3519;Exact_match=,clinvar_20171029_hg19|dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19|HAPMAP_phase_3_ensembl_v87_hg19-ASW|HAPMAP_phase_3_ensembl_v87_hg19-CHB|HAPMAP_phase_3_ensembl_v87_hg19-CHD|HAPMAP_phase_3_ensembl_v87_hg19-GIH|HAPMAP_phase_3_ensembl_v87_hg19-LWK|HAPMAP_phase_3_ensembl_v87_hg19-MEX|HAPMAP_phase_3_ensembl_v87_hg19-MKK|HAPMAP_phase_3_ensembl_v87_hg19-TSI;Forward_read_coverage=,10;G5A_dbsnp_common_v150_hg19_refseq=,G5A;G5_dbsnp_common_v150_hg19_refseq=,G5;GENEINFO_dbsnp_common_v150_hg19_refseq=,LAMP2:3920;GNO_dbsnp_common_v150_hg19_refseq=,GNO;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:3920;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:3920;Genotype=,A/T;HD_dbsnp_common_v150_hg19_refseq=,HD;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:6501;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:6501;Homo_sapiens_refseq_GRCh37.p13_Genes=,LAMP2;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NM_001122606.1|NM_002294.2|NM_013995.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene41102;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna60586|rna60587|rna60588;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MC_clinvar_20171029_hg19=,SO:0001819|synonymous_variant;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:309060;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:309060;Non-synonymous=,No;ORIGIN_clinvar_20171029_hg19=,1;Other_variants_within_codon=,No;PMC_dbsnp_common_v150_hg19_refseq=,PMC;PM_dbsnp_common_v150_hg19_refseq=,PM;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene41102;QUAL=,78.65937727178128;REF_dbsnp_common_v150_hg19_refseq=,REF;RSPOS_dbsnp_common_v150_hg19_refseq=,119590533;RS_dbsnp_common_v150_hg19_refseq=,12097;RV_dbsnp_common_v150_hg19_refseq=,RV;Read_count=,13;Read_coverage=,26;Read_direction_test_probability=,1.0;Read_position_test_probability=,0.9842752755170333;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NM_001122606.1|NM_002294.2|NM_013995.2;Reverse_read_coverage=,16;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.2986;SF=8,9,11,12,13,15,17,18,20,21,24,27,28,31,35,36,37,39;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;SYN_dbsnp_common_v150_hg19_refseq=,SYN;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x05012808030517053f000101;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-ASW=,0.438776;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHB=,0.439024;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-CHD=,0.341176;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-GIH=,0.397727;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-LWK=,0.303371;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MEX=,0.34;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-MKK=,0.401408;Variant_freq_HAPMAP_phase_3_ensembl_v87_hg19-TSI=,0.411765;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.006;db_xref=,GeneID:3920|HGNC:HGNC:6501|MIM:309060;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:02396;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NM_001122606.1|HPRD:02396|Genbank:NM_002294.2|Genbank:NM_013995.2;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,lysosomal_associated_membrane_protein_2;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,LAMP2;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,LAMP2;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,CD107b|LAMP-2|LAMPB|LGP110;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,lysosomal_associated_membrane_protein_2|_transcript_variant_C|lysosomal_associated_membrane_protein_2|_transcript_variant_A|lysosomal_associated_membrane_protein_2|_transcript_variant_B;transcript_id=,NM_001122606.1|NM_002294.2|NM_013995.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,mRNA;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMP2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMP2:NM_001122606:exon2:c.A156T:p.V52V,LAMP2:NM_002294:exon2:c.A156T:p.V52V,LAMP2:NM_013995:exon2:c.A156T:p.V52V;cytoBand=Xq24;genomicSuperDups=.;esp6500siv2_all=0.3986;esp6500siv2_ea=0.4261;esp6500siv2_all=0.3986;esp6500siv2_ea=0.4261;1000g2015aug_all=0.380927;avsnp147=rs12097;Kaviar_AF=0.373727;Kaviar_AC=57779;Kaviar_AN=154602;ExAC_ALL=0.4280;ExAC_AFR=0.3712;ExAC_AMR=0.3301;ExAC_EAS=0.4138;ExAC_FIN=0.4945;ExAC_NFE=0.4528;ExAC_OTH=0.4165;ExAC_SAS=0.4478;CLNALLELEID=53583;CLNDN=Hypertrophic_cardiomyopathy|Danon_disease|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C0878677,OMIM:300257,Orphanet:ORPHA34587,SNOMED_CT:419097006|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=-0.6022;dpsi_zscore=-1.188;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.3895;gnomAD_exome_AFR=0.3442;gnomAD_exome_AMR=0.3115;gnomAD_exome_ASJ=0.4072;gnomAD_exome_EAS=0.3817;gnomAD_exome_FIN=0.4445;gnomAD_exome_NFE=0.4100;gnomAD_exome_OTH=0.3740;gnomAD_exome_SAS=0.3989;gnomAD_genome_ALL=0.4039;gnomAD_genome_AFR=0.3573;gnomAD_genome_AMR=0.3436;gnomAD_genome_ASJ=0.4348;gnomAD_genome_EAS=0.3719;gnomAD_genome_FIN=0.4629;gnomAD_genome_NFE=0.4223;gnomAD_genome_OTH=0.3971;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=-2 GT:DP:CLCAD2 . . . . . . . . 1:21:0,10 1/1:12:0,12 . 1:23:0,11 1:21:0,11 1/1:22:0,22 . 1:29:0,19 . 1/1:15:0,15 1:27:0,16 . 1/1:21:0,21 1/1:13:0,13 . . 1:25:0,11 . . 1:22:0,11 1:17:0,12 . . 1:19:0,7 . . . 1:23:0,12 1:30:0,13 1/1:22:0,22 . 1/1:10:0,10 . . X 153641619 rs41313420 C T 200.00 . #_unique_end_positions=,58;#_unique_start_positions=,48;AC=2;AFR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0;AMR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0101;AN=2;ASP_dbsnp_common_v150_hg19_refseq=,ASP;Amino_acid_change=,;Amino_acid_change_in_longest_transcript=,;CAF_dbsnp_common_v150_hg19_refseq=,0.9955|0.004503;COMMON_dbsnp_common_v150_hg19_refseq=,1;Coding_region_change=,NM_000116.4:c.284+30C>T|_NM_001009932.2:c.-1822G>A|_NM_001009933.2:c.-1564G>A|_NM_001009934.2:c.-1479G>A|_NM_001303465.1:c.338+30C>T|_NM_001303620.1:c.-4259G>A|_NM_006730.3:c.-4813G>A|_NM_181311.3:c.284+30C>T|_NM_181312.3:c.284+30C>T|_NM_181313.3:c.284+30C>T;Coding_region_change_in_longest_transcript=,NM_001303465.1:c.338+30C>T;EAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0;EUR_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0.0099;Exact_match=,dbsnp_common_v150_hg19_refseq|1000GENOMES-phase_3_ensembl_v87_hg19;Forward_read_coverage=,38;GENEINFO_dbsnp_common_v150_hg19_refseq=,TAZ:6901|DNASE1L1:1774;GeneID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,GeneID:6901;GeneID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,GeneID:6901;Genotype=,T/T;HGNC_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HGNC:HGNC:11577;HGNC_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,HGNC:HGNC:11577;Homo_sapiens_refseq_GRCh37.p13_Genes=,TAZ;Homo_sapiens_refseq_GRCh37.p13_mRNA=,NR_024048.2;Homopolymer=,No;Homopolymer_length=,1;Hyper-allelic=,no;ID_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,gene41555;ID_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,rna61210;INT_dbsnp_common_v150_hg19_refseq=,INT;KGPhase1_dbsnp_common_v150_hg19_refseq=,KGPhase1;KGPhase3_dbsnp_common_v150_hg19_refseq=,KGPhase3;MIM_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,MIM:300394;MIM_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,MIM:300394;Non-synonymous=,-;Note_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,The_RefSeq_transcript_has_1_substitution|_1_non-frameshifting_indel_compared_to_this_genomic_sequence;Other_variants_within_codon=,No;Parent_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,gene41555;QUAL=,200.0;R5_dbsnp_common_v150_hg19_refseq=,R5;RSPOS_dbsnp_common_v150_hg19_refseq=,153641619;RS_dbsnp_common_v150_hg19_refseq=,41313420;Read_count=,132;Read_coverage=,132;Read_direction_test_probability=,1.0;Read_position_test_probability=,1.0;RefSeq_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,NR_024048.2;Reverse_read_coverage=,94;SAO_dbsnp_common_v150_hg19_refseq=,0;SAS_AF_1000GENOMES-phase_3_ensembl_v87_hg19=,0;SF=16;SLO_dbsnp_common_v150_hg19_refseq=,SLO;SSR_dbsnp_common_v150_hg19_refseq=,0;VC_dbsnp_common_v150_hg19_refseq=,SNV;VLD_dbsnp_common_v150_hg19_refseq=,VLD;VP_dbsnp_common_v150_hg19_refseq=,0x0501000a0005040036000100;WGT_dbsnp_common_v150_hg19_refseq=,1;conservation_score=,0.015;db_xref=,GeneID:6901|HGNC:HGNC:11577|MIM:300394;db_xref_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,HPRD:02316;db_xref_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,Genbank:NR_024048.2|HPRD:02316;description_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,tafazzin;exception_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,annotated_by_transcript_or_proteomic_data;gbkey_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;gbkey_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,misc_RNA;gene_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,TAZ;gene_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,TAZ;gene_biotype_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,protein_coding;gene_synonym_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,BTHS|CMD3A|EFE|EFE2|G4.5|LVNCX|Taz1;product_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,tafazzin|_transcript_variant_5;transcript_id=,NR_024048.2;type_(Homo_sapiens_refseq_GRCh37.p13_Genes)=,Gene;type_(Homo_sapiens_refseq_GRCh37.p13_mRNA)=,transcript;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TAZ;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=Xq28;genomicSuperDups=.;esp6500siv2_all=0.0063;esp6500siv2_ea=0.0089;esp6500siv2_all=0.0063;esp6500siv2_ea=0.0089;1000g2015aug_all=0.00450331;avsnp147=rs41313420;Kaviar_AF=0.0050517;Kaviar_AC=781;Kaviar_AN=154602;ExAC_ALL=0.0060;ExAC_AFR=0.0011;ExAC_AMR=0.0034;ExAC_EAS=0;ExAC_FIN=0.0012;ExAC_NFE=0.0100;ExAC_OTH=0.0040;ExAC_SAS=0.0009;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;GDI_full_10282015=.;dpsi_max_tissue=0.3849;dpsi_zscore=1.003;hgmdCODING=.;hgmdSPLICE=.;hgmdPROM=.;hgmdPRO=.;gnomAD_exome_ALL=0.0049;gnomAD_exome_AFR=0.0008;gnomAD_exome_AMR=0.0028;gnomAD_exome_ASJ=0.0060;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0010;gnomAD_exome_NFE=0.0089;gnomAD_exome_OTH=0.0021;gnomAD_exome_SAS=0.0010;gnomAD_genome_ALL=0.0037;gnomAD_genome_AFR=0.0012;gnomAD_genome_AMR=0.0113;gnomAD_genome_ASJ=0.0055;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0011;gnomAD_genome_NFE=0.0057;gnomAD_genome_OTH=0.0028;Whole_Blood=.;Liver=.;ALLELE_END;COSO_score=0 GT:DP:CLCAD2 . . . . . . . . . . . . . . . . 1/1:113:0,113 . . . . . . . . . . . . . . . . . . . . . . . . .