CHR	start	gene	ref	alt	AC	1000g2015aug_all	CADD_raw	CLNDISDB	CLNDN	CLNSIG	ExAC_NFE	ExonicFunc.refGene	Func.refGene	MetaSVM_pred	esp6500siv2_ea	gnomAD_exome_NFE	gnomAD_genome_NFE	Score
chr1	2985885	PRDM16	C	G	79	0.360224	.	.	.	.	0.4481	.	intronic	.	0.3766	0.4203	0.4220	-1
chr1	2985923	PRDM16	C	T	2	.	.	.	.	.	.	.	intronic	.	.	.	.	2
chr1	3102751	PRDM16	G	A	1	0.00119808	3.057	MedGen:C3809288,OMIM:615373|MedGen:CN169374	Left_ventricular_noncompaction_8|not_specified	Benign/Likely_benign	0.0029	nonsynonymous_SNV	exonic	T	0.0025	0.0029	0.0035	0
chr1	3102762	PRDM16	G	A	1	.	.	.	.	.	3.105e-05	synonymous_SNV	exonic	.	.	2.716e-05	.	2
chr1	3102852	PRDM16	G	A	2	0.00119808	.	MedGen:C3809288,OMIM:615373|MedGen:CN169374	Left_ventricular_noncompaction_8|not_specified	Benign/Likely_benign	0.0033	synonymous_SNV	exonic	.	0.0029	0.0020	0.0014	0
chr1	3301721	PRDM16	C	T	63	0.340455	.	MedGen:CN169374	not_specified	Benign	0.2706	synonymous_SNV	exonic	.	0.2668	0.2715	0.2782	-1
chr1	3313114	PRDM16	G	C	1	.	4.714	.	.	.	.	nonsynonymous_SNV	exonic	T	.	9.44e-06	.	2
chr1	3319339	PRDM16	G	A	14	0.0213658	.	MedGen:CN169374	not_specified	Benign	0.0700	.	intronic	.	.	0.0716	0.0743	-1
chr1	3319461	PRDM16	C	T	3	0.0115815	.	MedGen:C3809288,OMIM:615373|MedGen:CN169374	Left_ventricular_noncompaction_8|not_specified	Benign	0.0100	synonymous_SNV	exonic	.	0.0107	0.0098	0.0106	-1
chr1	3322124	PRDM16	C	T	1	.	.	.	.	.	0	synonymous_SNV	exonic	.	.	1.853e-05	.	2
chr1	3328355	PRDM16	ACAT	ACAC,CCAT	1	.	1.557	.	.	.	.	nonsynonymous_SNV	exonic	T	.	.	.	2
chr1	3328356	PRDM16	CAT	CAC	16	.	.	.	.	.	.	frameshift_deletion\x3bframeshift_deletion\x3bframeshift_deletion	exonic\x3bexonic\x3bexonic	.	.	.	.	4
chr1	3328357	PRDM16	AT	AC,CT	16	.	.	.	.	.	.	synonymous_SNV	exonic	.	.	.	.	4
chr1	3328358	PRDM16	T	C	168	0.945088	-0.543	MedGen:CN169374	not_specified	Benign	0.8404	nonsynonymous_SNV	exonic	T	0.8356	0.8350	0.8459	-1
chr1	3328659	PRDM16	C	T	56	0.10603	3.424	MedGen:CN169374	not_specified	Benign	0.1636	nonsynonymous_SNV	exonic	T	0.1516	0.1563	0.1406	-1
chr1	3328948	PRDM16	C	G	1	0.000199681	1.423	MedGen:C3809288,OMIM:615373	Left_ventricular_noncompaction_8	Likely_benign	0.0005	nonsynonymous_SNV	exonic	T	0.0004	0.0004	0.0012	0
chr1	3329216	PRDM16	G	A	1	.	-0.077	.	.	.	0	nonsynonymous_SNV	exonic	T	.	0	.	2
chr1	3329263	PRDM16	C	T	1	0.0537141	.	MedGen:CN169374	not_specified	Benign	0.0461	synonymous_SNV	exonic	.	0.0155	0.0196	0.0207	-1
chr1	3329269	PRDM16	C	T	2	.	.	MedGen:C3809288,OMIM:615373|MedGen:CN169374	Left_ventricular_noncompaction_8|not_specified	Conflicting_interpretations_of_pathogenicity	0.0034	synonymous_SNV	exonic	.	0.0001	0.0011	0.0006	0
chr1	3329384	PRDM16	C	T	55	0.107029	.	MedGen:CN169374	not_specified	Benign	0.2361	.	intronic	.	0.1344	0.1476	0.1392	-1
chr1	3331099	PRDM16	C	T	1	0.00199681	.	.	.	.	0.0124	.	intronic	.	0.0098	0.0096	0.0075	-1
chr1	3335362	PRDM16	G	A	2	0.0233626	.	.	.	.	.	.	intronic	.	0.0185	.	0.0221	-1
chr1	3342128	PRDM16	G	A	2	0.00539137	.	MedGen:CN169374	not_specified	Benign	0.0185	.	intronic	.	0.0206	0.0203	0.0221	-1
chr1	3342326	PRDM16	G	C	1	.	.	MedGen:CN169374	not_specified	Likely_benign	0.0026	.	intronic	.	0.0019	0.0024	0.0047	0
chr1	3342804	PRDM16	G	T	64	0.379393	.	MedGen:CN169374	not_specified	Benign	0.2679	.	intronic	.	0.2724	0.2693	0.2621	-1
chr1	3350396	PRDM16	C	T	1	0.000998403	.	.	.	.	6.257e-05	.	UTR3	.	0.0001	6.376e-05	6.669e-05	0
chr1	3350409	PRDM16	G	A	3	0.0982428	.	.	.	.	0.0286	.	UTR3	.	0.0266	0.0277	0.0244	-1
chr1	11905995	na	C	A	15	0.0221645	.	.	.	.	.	.	ncRNA_intronic	.	0.0641	.	0.0516	-1
chr1	11906068	NPPA	A	G	30	0.179113	1.595	MedGen:CN169374	not_specified	Benign	0.1343	stoploss	exonic	.	0.1552	0.1405	0.1399	-1
chr1	11907430	NPPA	T	G	2	0.000599042	-0.738	MedGen:C2677294,OMIM:612201	Atrial_fibrillation,_familial,_6	Likely_benign	0.0028	nonsynonymous_SNV	exonic	T	0.0028	0.0029	0.0025	0
chr1	11907603	na	G	A	15	0.129593	.	MedGen:C0003811,OMIM:115000|MedGen:CN169374	Cardiac_arrhythmia|not_specified	Benign	0.0753	.	ncRNA_exonic	.	0.0877	0.0805	0.0878	-1
chr1	11907648	NPPA	C	T	8	0.0734824	0.267	.	.	.	0.0421	nonsynonymous_SNV	exonic	T	0.0471	0.0457	0.0459	-1
chr1	26383667	TRIM63	G	C	1	.	.	.	.	.	0.0002	.	intronic	.	.	0.0002	0.0001	1
chr1	26384973	TRIM63	G	A	1	0.000199681	11.873	MeSH:D030342,MedGen:C0950123|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005	Inborn_genetic_diseases|Primary_familial_hypertrophic_cardiomyopathy	Conflicting_interpretations_of_pathogenicity	0.0007	stopgain	exonic	.	0.0007	0.0005	0.0004	4
chr1	26385003	TRIM63	T	C	43	0.182308	1.211	.	.	.	0.2195	nonsynonymous_SNV	exonic	T	0.2165	0.2175	0.1920	-1
chr1	26386751	TRIM63	G	T	3	.	.	.	.	.	1.502e-05	.	intronic	.	.	8.962e-06	.	3
chr1	26386817	TRIM63	C	T	1	.	.	.	.	.	0.0002	synonymous_SNV	exonic	.	.	0.0001	6.67e-05	1
chr1	26387783	TRIM63	G	A	1	0.00119808	.	.	.	.	0.0017	synonymous_SNV	exonic	.	0.0026	0.0021	0.0021	0
chr1	26387820	TRIM63	G	A	1	.	6.834	.	.	.	0.0002	nonsynonymous_SNV	exonic	T	0.0006	0.0003	0.0001	1
chr1	26392824	TRIM63	C	A	8	0.0183706	.	.	.	.	0.0801	synonymous_SNV	exonic	.	0.0844	0.0864	0.1033	-1
chr1	26393843	TRIM63	G	A	1	0.000399361	7.006	MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005	Primary_familial_hypertrophic_cardiomyopathy	Likely_benign	0.0018	nonsynonymous_SNV	exonic	T	0.0020	0.0023	0.0015	1
chr1	26393974	TRIM63	C	T	1	0.0415335	.	.	.	.	0.0013	synonymous_SNV	exonic	.	0.0010	0.0011	0.0007	-1
chr1	74701107	TNNI3K	C	T	1	0.00559105	.	.	.	.	0.0124	.	UTR5	.	0.0136	0.0121	0.0129	-1
chr1	74715119	na	T	A	1	.	.	.	.	.	4.55e-05	.	intronic	.	0.0001	0.0001	6.663e-05	2
chr1	74737274	na	C	T	5	0.00579073	.	.	.	.	0.0086	.	intronic	.	0.0083	0.0077	0.0054	2
chr1	74801692	na	T	G	1	.	.	.	.	.	.	.	intronic	.	.	.	.	2
chr1	74808620	na	G	C	1	0.00119808	-2.697	.	.	.	0.0022	nonsynonymous_SNV	exonic	T	0.0016	0.0025	0.0025	0
chr1	74808631	na	C	T	1	0.00199681	5.184	.	.	.	0.0019	nonsynonymous_SNV	exonic	T	0.0024	0.0021	0.0017	1
chr1	74819077	na	T	G	222	0.939097	.	.	.	.	0.9439	.	intronic	.	0.9423	0.9427	0.9419	-1
chr1	74834656	na	ATGTGTGTGGT	ATGTGTGGT	2	.	.	.	.	.	0.0002	.	intronic	.	0.0016	0.0003	0.0001	0
chr1	74901733	na	TGTCTAC	TTTTTTT	2	.	.	.	.	.	.	.	intronic	.	.	.	.	2
chr1	74901736	na	CTAC	TTTT	2	.	.	.	.	.	.	.	intronic	.	.	.	.	2
chr1	74901739	na	CTTTTTTTTTTTTTTTTTTTTA	CTTTTTTTTTTTTTTTTTTTA,TTTTTTTTTTTTTTTTTTTTTA	2	.	.	.	.	.	.	.	intronic	.	.	.	.	2
chr1	74901829	na	A	C	12	0.0776757	.	.	.	.	0.0610	.	intronic	.	0.06	0.0618	0.0600	-1
chr1	74902244	na	A	G	12	0.0662939	.	.	.	.	0.0615	.	intronic	.	0.0619	0.0616	0.0623	-1
chr1	74929170	na	T	C	4	0.0209665	4.228	.	.	.	0.0060	nonsynonymous_SNV	exonic	D	0.0037	0.0050	0.0046	0
chr1	74954856	na	CTTTTTTC	CTTTTTTTC	5	0.081869	.	.	.	.	0.0137	.	intronic	.	0.0168	0.0141	0.0117	-1
chr1	74954952	na	A	C	2	0.00219649	.	.	.	.	0.0073	.	intronic	.	0.0091	0.0080	0.0061	0
chr1	74954971	na	C	G	1	0.000399361	.	.	.	.	0.0029	.	intronic	.	0.0010	0.0021	0.0015	0
chr1	74957823	na	CCTTCTTCTTCTTC	CCTTCTTCTTC	1	.	.	.	.	.	.	nonframeshift_deletion	exonic	.	.	.	.	2
chr1	74957911	na	A	G	1	.	5.878	.	.	.	.	nonsynonymous_SNV	exonic	T	.	.	.	3
chr1	75006027	na	A	G	136	0.324481	.	.	.	.	0.5609	.	intronic	.	0.5560	0.5610	0.5629	-1
chr1	75009699	na	T	C	1	0.0443291	.	.	.	.	0.0006	.	UTR3	.	0.0003	0.0006	0.0005	-1
chr1	78381726	NEXN	T	A	1	.	.	.	.	.	.	.	intronic	.	.	.	0	2
chr1	78383301	NEXN	T	C	1	0.000399361	.	MedGen:C2751084,OMIM:613122|MedGen:C3151267,OMIM:613876|MedGen:CN169374|MedGen:CN230736	Dilated_cardiomyopathy_1CC|Familial_hypertrophic_cardiomyopathy_20|not_specified|Cardiovascular_phenotype	Benign/Likely_benign	0.0003	synonymous_SNV	exonic	.	0.0005	0.0002	6.667e-05	-0.5
chr1	78390821	NEXN	CAAAAAGT	CAAAAGT	3	0.00938498	.	.	.	.	.	.	intronic	.	0.0251	.	0.0159	-1
chr1	78392446	NEXN	G	A	41	0.150759	5.664	Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310	Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant	Benign/Likely_benign	0.2142	nonsynonymous_SNV	exonic	T	0.2073	0.2106	0.2107	-0.5
chr1	78392503	NEXN	A	C	1	.	2.073	.	.	.	.	nonsynonymous_SNV	exonic	T	.	.	.	2
chr1	78392589	NEXN	T	A	1	0.000798722	.	Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN239310	Hypertrophic_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant	Conflicting_interpretations_of_pathogenicity	0.0017	.	intronic	.	0.0016	0.0021	0.0017	0.5
chr1	78395131	NEXN	A	C	2	0.00319489	3.628	Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2751084,OMIM:613122|MedGen:C3151267,OMIM:613876|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310	Hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1CC|Familial_hypertrophic_cardiomyopathy_20|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant	Conflicting_interpretations_of_pathogenicity	0.0028	nonsynonymous_SNV	exonic	T	0.0024	0.0032	0.0033	0.5
chr1	78395151	NEXN	G	A	1	.	3.549	.	.	.	.	nonsynonymous_SNV	exonic	T	.	.	.	2
chr1	78407911	NEXN	C	G	4	0.00119808	.	MedGen:CN169374	not_specified	Benign	0.0030	.	intronic	.	0.0032	0.0035	0.0037	1
chr1	78408380	NEXN	G	C	1	.	4.254	.	.	.	4.523e-05	nonsynonymous_SNV	exonic	T	0.0001	5.437e-05	.	2
chr1	112319731	KCND3	G	A	1	.	.	.	.	.	0	synonymous_SNV	exonic	.	.	0	.	2
chr1	112321032	KCND3	T	A	30	0.192692	.	.	.	.	0.1960	.	intronic	.	0.1974	0.1992	0.2087	-1
chr1	112323335	KCND3	G	A	1	.	4.189	MedGen:C1846367,OMIM:607346,Orphanet:ORPHA98772|MedGen:C4225340,OMIM:616399|MedGen:CN230736|MedGen:CN517202	Spinocerebellar_ataxia_19|Brugada_syndrome_9|Cardiovascular_phenotype|not_provided	Conflicting_interpretations_of_pathogenicity	0.0002	nonsynonymous_SNV	exonic	T	.	0.0001	6.665e-05	1
chr1	112329550	KCND3	TG	TT,GG	1	.	.	.	.	.	.	.	intronic	.	.	.	.	2
chr1	112329551	KCND3	G	T	29	0.192692	.	MedGen:CN169374	not_specified	Benign	0.1492	.	intronic	.	0.1417	0.1469	0.1559	-1
chr1	112524680	KCND3	C	G	2	0.0081869	.	MedGen:C1846367,OMIM:607346,Orphanet:ORPHA98772|MedGen:CN169374|MedGen:CN230736	Spinocerebellar_ataxia_19|not_specified|Cardiovascular_phenotype	Benign	0.0201	synonymous_SNV	exonic	.	0.0186	0.0214	0.0253	-1
chr1	112524698	KCND3	C	T	1	0.000798722	.	MedGen:CN169374	not_specified	Likely_benign	3.06e-05	synonymous_SNV	exonic	.	.	5.402e-05	0	0
chr1	112524708	KCND3	T	C	1	0.000199681	1.042	MedGen:C1846367,OMIM:607346,Orphanet:ORPHA98772|MedGen:CN169374|MedGen:CN230736	Spinocerebellar_ataxia_19|not_specified|Cardiovascular_phenotype	Conflicting_interpretations_of_pathogenicity	0.0004	nonsynonymous_SNV	exonic	D	0.0005	0.0003	0.0003	1
chr1	112524890	KCND3	C	T	1	.	.	MedGen:CN169374	not_specified	Likely_benign	0.0001	synonymous_SNV	exonic	.	.	0.0001	0.0001	2
chr1	112524974	KCND3	C	T	1	0.0451278	.	MedGen:C1846367,OMIM:607346,Orphanet:ORPHA98772|MedGen:CN169374|MedGen:CN230736	Spinocerebellar_ataxia_19|not_specified|Cardiovascular_phenotype	Benign	0.0008	synonymous_SNV	exonic	.	0.0010	0.0009	0.0011	-1
chr1	112525085	KCND3	G	A	18	0.0471246	.	MedGen:CN169374|MedGen:CN230736	not_specified|Cardiovascular_phenotype	Benign	0.1233	synonymous_SNV	exonic	.	0.1205	0.1253	0.1178	-1
chr1	115256406	NRAS	T	C	1	.	.	.	.	.	.	.	intronic	.	0.0001	.	.	2
chr1	116243868	CASQ2	A	G	20	0.0309505	.	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	Neural_tube_defect|Catecholaminergic_polymorphic_ventricular_tachycardia|Caudal_dysgenesis_syndrome|Ventricular_tachycardia,_catecholaminergic_polymorphic,_2|not_specified|Cardiovascular_phenotype	Benign/Likely_benign	0.0638	synonymous_SNV	exonic	.	0.0614	0.0631	0.0689	-1
chr1	116243877	CASQ2	G	A	95	0.425719	.	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	Neural_tube_defect|Catecholaminergic_polymorphic_ventricular_tachycardia|Caudal_dysgenesis_syndrome|Ventricular_tachycardia,_catecholaminergic_polymorphic,_2|not_specified|Cardiovascular_phenotype	Benign/Likely_benign	0.3619	synonymous_SNV	exonic	.	0.3573	0.3548	0.3609	-1
chr1	116245533	CASQ2	G	A	1	0.0175719	.	Human_Phenotype_Ontology:HP:0045005,MedGen:C0027794,OMIM:182940,SNOMED_CT:253098009|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:C1838569|MedGen:C2677794,OMIM:611938|MedGen:CN169374	Neural_tube_defect|Catecholaminergic_polymorphic_ventricular_tachycardia|Caudal_dysgenesis_syndrome|Ventricular_tachycardia,_catecholaminergic_polymorphic,_2|not_specified	Benign/Likely_benign	0.0010	.	intronic	.	0.0008	0.0007	0.0007	-1
chr1	116245655	CASQ2	G	C	50	0.216054	.	.	.	.	0.2308	.	intronic	.	0.2029	0.2144	0.2207	-1
chr1	116245680	CASQ2	C	T	1	.	.	.	.	.	.	.	intronic	.	.	.	.	2
chr1	116247790	CASQ2	G	A	82	0.428714	.	MedGen:CN169374	not_specified	Benign	0.3086	.	intronic	.	0.3197	0.3113	0.2918	-1
chr1	116247824	CASQ2	C	T	2	.	4.702	MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736	Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype	Conflicting_interpretations_of_pathogenicity	0.0008	nonsynonymous_SNV	exonic	T	0.0006	0.0006	0	0
chr1	116247826	CASQ2	T	C	1	0.000199681	5.950	MedGen:C1631597,Orphanet:ORPHA3286	Catecholaminergic_polymorphic_ventricular_tachycardia	Uncertain_significance	1.499e-05	nonsynonymous_SNV	exonic	D	.	8.961e-06	.	3
chr1	116260532	CASQ2	A	T	137	0.642772	.	MedGen:C2677794,OMIM:611938|MedGen:CN169374	Ventricular_tachycardia,_catecholaminergic_polymorphic,_2|not_specified	Benign	0.5441	.	intronic	.	0.5505	0.5478	0.5345	-1
chr1	116260544	CASQ2	C	T	65	0.250799	.	.	.	.	0.2315	.	intronic	.	0.2274	0.2347	0.2379	-1
chr1	116260570	CASQ2	T	C	3	0.0199681	.	.	.	.	.	.	intronic	.	0.0022	.	0.0007	-1
chr1	116269700	CASQ2	T	C	1	.	5.356	.	.	.	3.032e-05	nonsynonymous_SNV	exonic	D	0.0001	3.587e-05	.	4
chr1	116269768	CASQ2	A	C	1	0.00259585	.	.	.	.	0.0061	.	intronic	.	0.0064	0.0057	0.0054	0
chr1	116280971	CASQ2	G	C	1	0.000199681	.	MedGen:C1631597,Orphanet:ORPHA3286|MedGen:C2677794,OMIM:611938|MedGen:CN169374	Catecholaminergic_polymorphic_ventricular_tachycardia|Ventricular_tachycardia,_catecholaminergic_polymorphic,_2|not_specified	Conflicting_interpretations_of_pathogenicity	0.0003	.	intronic	.	.	0.0003	0.0005	1
chr1	116280980	CASQ2	C	G	1	.	.	.	.	.	0.0031	.	intronic	.	0.0012	0.0027	0.0020	0
chr1	116283343	CASQ2	A	G	197	0.64357	.	MedGen:C1631597,Orphanet:ORPHA3286|MedGen:C2677794,OMIM:611938|MedGen:CN169374	Catecholaminergic_polymorphic_ventricular_tachycardia|Ventricular_tachycardia,_catecholaminergic_polymorphic,_2|not_specified	Benign	0.8689	.	intronic	.	0.8780	0.8748	0.8575	-1
chr1	116283440	CASQ2	T	C	1	.	6.362	.	.	.	.	nonsynonymous_SNV	exonic	D	.	.	.	4
chr1	116310966	CASQ2	GT	GC	1	.	.	.	.	.	.	frameshift_deletion	exonic	.	.	.	.	2
chr1	116310967	CASQ2	TGA	CGA	91	0.401158	-1.622	MedGen:C1631597,Orphanet:ORPHA3286|MedGen:C2677794,OMIM:611938|MedGen:CN169374|MedGen:CN230736	Catecholaminergic_polymorphic_ventricular_tachycardia|Ventricular_tachycardia,_catecholaminergic_polymorphic,_2|not_specified|Cardiovascular_phenotype	Benign	0.2837	nonsynonymous_SNV	exonic	T	0.2891	0.2901	0.2547	-1
chr1	147230978	GJA5	G	A	5	0.0163738	.	MedGen:C1838539,OMIM:108770|MedGen:C3279693,OMIM:614049|MedGen:CN204347,Orphanet:ORPHA334	Atrial_standstill_1|Atrial_fibrillation,_familial,_11|Familial_atrial_fibrillation	Benign/Likely_benign	0.0069	synonymous_SNV	exonic	.	0.0064	0.0065	0.0047	-1
chr1	156084760	LMNA	C	T	3	0.00678914	.	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	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	Benign/Likely_benign	0.0371	synonymous_SNV	exonic	.	0.0126	0.0141	0.0116	-1.5
chr1	156084924	LMNA	G	A	2	.	7.100	.	.	.	2.488e-05	nonsynonymous_SNV	exonic	D	.	1.93e-05	.	4
chr1	156096612	LMNA	T	C	1	.	.	.	.	.	1.986e-05	synonymous_SNV	exonic	.	.	9.573e-06	0	2
chr1	156100467	LMNA	C	A	1	.	5.771	.	.	.	.	nonsynonymous_SNV	exonic	D	.	.	.	4
chr1	156104245	LMNA	C	T	1	0.000399361	5.482	EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:CN517202	Primary_dilated_cardiomyopathy|not_provided	Uncertain_significance	0	nonsynonymous_SNV	exonic	D	0.0001	8.953e-06	6.666e-05	3
chr1	156104292	LMNA	G	A	5	0.00798722	.	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	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	Benign/Likely_benign	0.0088	synonymous_SNV	exonic	.	0.0073	0.0083	0.0075	1.5
chr1	156105028	LMNA	T	C	31	0.193091	.	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	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	Benign	0.0745	synonymous_SNV	exonic	.	0.0751	0.0722	0.0712	-2
chr1	156105678	LMNA	CCA	CCC	3	.	.	.	.	.	.	.	intronic\x3bintronic	.	.	.	.	3
chr1	156105679	LMNA	CA	CC	4	.	.	.	.	.	.	.	intronic\x3bintronic	.	.	.	.	3
chr1	156105680	LMNA	A	C	4	.	.	.	.	.	.	.	intronic	.	.	.	.	3
chr1	156105704	LMNA	G	A	1	.	7.086	EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:CN043576|MedGen:CN517202	Primary_dilated_cardiomyopathy|Charcot-Marie-Tooth_disease,_type_2|not_provided	Pathogenic/Likely_pathogenic	.	nonsynonymous_SNV	exonic	D	.	.	6.669e-05	5
chr1	156105928	LMNA	G	A	29	0.192292	.	EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:CN169374|MedGen:CN517202	Primary_dilated_cardiomyopathy|not_specified|not_provided	Benign/Likely_benign	0.0733	.	intronic	.	0.0748	0.0713	0.0704	-1.5
chr1	156106161	LMNA	G	A	1	.	.	MedGen:CN043576|MedGen:CN169374	Charcot-Marie-Tooth_disease,_type_2|not_specified	Conflicting_interpretations_of_pathogenicity	0.0002	synonymous_SNV	exonic	.	.	0.0002	0	1
chr1	156106181	LMNA	TGGAT	TGGAC,GGGAT	1	.	5.610	.	.	.	.	nonsynonymous_SNV	exonic	D	.	.	.	4
chr1	156106185	LMNA	T	C,G	1	.	4.935	.	.	.	2.106e-05	nonsynonymous_SNV	exonic	D	.	9.45e-06	.	3
chr1	156106827	LMNA	G	A	1	.	.	MedGen:CN043576|MedGen:CN169374	Charcot-Marie-Tooth_disease,_type_2|not_specified	Conflicting_interpretations_of_pathogenicity	4.513e-05	.	intronic	.	.	2.688e-05	.	2
chr1	156106964	LMNA	C	T	1	.	13.679	.	.	.	.	stopgain	exonic	.	.	.	.	6
chr1	156107534	LMNA	C	T	50	0.220248	.	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	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	Benign	0.2817	synonymous_SNV\x3bsynonymous_SNV	exonic\x3bexonic	.	0.2531	0.2649	0.2486	-2
chr1	156107534	LMNA	C	T	8	0.220248	.	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	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	Benign	0.2817	synonymous_SNV\x3bsynonymous_SNV	exonic\x3bexonic	.	0.2531	0.2649	0.2486	-2
chr1	156108298	LMNA	C	T	1	.	4.715	MedGen:C1449563,OMIM:115200,Orphanet:ORPHA300751|MedGen:C1720860,OMIM:151660,Orphanet:ORPHA2348|MedGen:CN043412|MedGen:CN043576|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202	Dilated_cardiomyopathy_1A|Familial_partial_lipodystrophy_2|Mandibuloacral_dysplasia_with_type_A_lipodystrophy,_atypical|Charcot-Marie-Tooth_disease,_type_2|not_specified|Cardiovascular_phenotype|not_provided	Conflicting_interpretations_of_pathogenicity	0.0002	nonsynonymous_SNV	exonic	D	.	0.0001	6.675e-05	2.5
chr1	156108976	LMNA	G	C	31	0.185304	.	MedGen:CN517202	not_provided	not_provided	.	.	UTR3\x3bUTR3	.	0.0773	.	0.0708	-1
chr1	156108976	LMNA	G	C	3	0.185304	.	MedGen:CN517202	not_provided	not_provided	.	.	UTR3\x3bUTR3	.	0.0773	.	0.0708	-1
chr1	156109536	LMNA	G	A	5	0.00319489	.	.	.	.	0.0189	.	UTR3	.	.	0.0141	0.0106	-1
chr1	162257246	NOS1AP	A	G	3	0.00599042	.	.	.	.	0.0179	.	intronic	.	0.0174	0.0175	0.0128	-1
chr1	162270463	NOS1AP	G	A	1	0.00239617	2.037	.	.	.	0.0038	nonsynonymous_SNV\x3bnonsynonymous_SNV	exonic\x3bexonic	T	0.0043	0.0037	0.0048	0
chr1	162302846	NOS1AP	C	T	1	0.00319489	.	MedGen:CN517202	not_provided	Benign	0.0040	synonymous_SNV	exonic	.	0.0041	0.0039	0.0051	0
chr1	162313735	NOS1AP	C	T	90	0.430911	.	.	.	.	0.3647	synonymous_SNV	exonic	.	0.3571	0.3580	0.3632	-1
chr1	162324996	NOS1AP	C	T	2	0.0303514	.	.	.	.	0.0015	synonymous_SNV	exonic	.	0.0017	0.0015	0.0012	-1
chr1	162326761	NOS1AP	C	T	1	.	.	.	.	.	.	synonymous_SNV	exonic	.	.	.	.	2
chr1	162326851	NOS1AP	C	T	1	0.00159744	.	MedGen:C0003811,OMIM:115000	Cardiac_arrhythmia	Likely_benign	0.0088	synonymous_SNV	exonic	.	0.0073	0.0093	0.0083	0
chr1	162335256	NOS1AP	C	T	35	0.250799	.	.	.	.	0.1195	synonymous_SNV\x3bsynonymous_SNV	exonic\x3bexonic	.	0.1199	0.1169	0.1075	-1
chr1	162335256	NOS1AP	C	T	4	0.250799	.	.	.	.	0.1195	synonymous_SNV\x3bsynonymous_SNV	exonic\x3bexonic	.	0.1199	0.1169	0.1075	-1
chr1	162336953	NOS1AP	C	T	1	0.00499201	3.671	MedGen:C0003811,OMIM:115000	Cardiac_arrhythmia	Uncertain_significance	9.072e-05	nonsynonymous_SNV	exonic	T	0.0002	0.0001	0.0001	0
chr1	201328705	TNNT2	G	A	6	0.0113818	.	.	.	.	0.0364	.	intronic	.	0.0283	0.0301	0.0266	-1
chr1	201328824	TNNT2	G	A	24	0.277157	.	MedGen:CN169374	not_specified	Benign	0.1326	.	intronic	.	0.1020	0.0985	0.0993	-1
chr1	201330366	TNNT2	G	C	5	0.0579073	.	MedGen:CN169374	not_specified	Likely_benign	0.0026	.	intronic	.	0.0008	0.0020	0.0025	-1
chr1	201330429	TNNT2	T	C	5	0.0974441	2.213	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	Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_restrictive_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided	Benign/Likely_benign	0.0162	nonsynonymous_SNV	exonic	T	0.0148	0.0151	0.0179	-1.5
chr1	201331068	TNNT2	A	G	1	0.000199681	5.995	Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C0340429,Orphanet:ORPHA217635,SNOMED_CT:233878008|MedGen:C1832243,OMIM:601494|MedGen:C1861864,OMIM:115195|MedGen:C2676271,OMIM:612422|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310	Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_restrictive_cardiomyopathy|Left_ventricular_noncompaction_6|Familial_hypertrophic_cardiomyopathy_2|Familial_restrictive_cardiomyopathy_3|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant	Conflicting_interpretations_of_pathogenicity	0.0001	nonsynonymous_SNV	exonic	D	0.0002	0.0002	0.0005	3.5
chr1	201331144	TNNT2	G	A	1	.	6.918	.	.	.	.	nonsynonymous_SNV\x3bnonsynonymous_SNV\x3bnonsynonymous_SNV	exonic\x3bexonic\x3bexonic	D	.	.	.	2
chr1	201331231	TNNT2	G	A	1	0.00339457	.	.	.	.	0.0172	.	intronic	.	0.0107	0.0133	0.0132	-1
chr1	201331240	TNNT2	C	T	1	0.0341454	.	.	.	.	0.0006	nonsynonymous_SNV	exonic	.	.	0.0005	0.0003	-1
chr1	201331256	TNNT2	G	A	2	0.00179712	.	.	.	.	0.0040	.	intronic	.	0.0013	0.0018	0.0015	0
chr1	201334382	TNNT2	G	A	166	0.695088	.	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	Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_restrictive_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant	Benign/Likely_benign	0.7147	synonymous_SNV	exonic	.	0.7184	0.7096	0.7202	-1.5
chr1	201334795	TNNT2	C	T	21	0.0824681	.	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	Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_restrictive_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant	Benign/Likely_benign	0.0624	synonymous_SNV	exonic	.	0.0634	0.0619	0.0617	-1.5
chr1	201336028	TNNT2	G	C	1	0.028754	.	MedGen:CN169374	not_specified	Likely_benign	0.0003	.	intronic	.	0.0001	0.0003	0.0002	-1
chr1	201336984	TNNT2	C	T	97	0.285543	.	MedGen:CN169374	not_specified	Benign	0.4552	.	intronic\x3bintronic	.	0.4466	0.4556	0.4630	-1
chr1	201336984	TNNT2	C	T	13	0.285543	.	MedGen:CN169374	not_specified	Benign	0.4552	.	intronic\x3bintronic	.	0.4466	0.4556	0.4630	-1
chr1	201337340	TNNT2	G	A	1	.	0.566	MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C1832243,OMIM:601494|MedGen:C1861864,OMIM:115195|MedGen:C2676271,OMIM:612422|MedGen:CN169374|MedGen:CN221599|MedGen:CN517202	Primary_familial_hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_6|Familial_hypertrophic_cardiomyopathy_2|Familial_restrictive_cardiomyopathy_3|not_specified|Increased_left_ventricular_wall_thickness|not_provided	Conflicting_interpretations_of_pathogenicity	0.0006	nonsynonymous_SNV	exonic	D	0.0005	0.0007	0.0005	1
chr1	201338553	TNNT2	T	C	168	0.734625	.	.	.	.	.	.	intronic	.	0.7219	.	0.7224	-1
chr1	201338896	TNNT2	T	C	150	0.529952	.	.	.	.	0.6175	.	intronic	.	0.6210	0.6161	0.6255	-1
chr1	201339043	TNNT2	C	T,A	150	0.0495208	.	.	.	.	.	.	intronic	.	.	.	0.0025	-1
chr1	201339044	TNNT2	G	A	10	0.0678914	.	.	.	.	.	.	intronic	.	0.1009	.	0.1003	-1
chr1	201341175	TNNT2	CAGAAGAGAAGT	CAGAAGT	148	0.520367	.	.	.	.	0.6146	.	intronic	.	.	0.6134	0.6170	-1
chr1	201341216	TNNT2	G	C	1	0.00319489	.	.	.	.	0.0002	.	intronic	.	0.0001	0.0003	0.0002	0
chr1	201341225	TNNT2	C	T	1	0.00219649	.	.	.	.	0.0065	.	intronic\x3bintronic	.	0.0069	0.0075	0.0063	0
chr1	201341341	TNNT2	C	T	172	0.771765	.	.	.	.	.	.	intronic	.	0.7244	.	0.7258	-1
chr1	201342385	TNNT2	T	C	1	.	1.538	MedGen:CN169374	not_specified	Likely_benign	0	.	UTR5	T	.	2.685e-05	6.683e-05	2
chr1	227069677	PSEN2	T	C	182	0.735623	.	MedGen:CN043596|MedGen:CN169374|MedGen:CN239310	Early-Onset_Familial_Alzheimer_Disease|not_specified|Dilated_Cardiomyopathy,_Dominant	Benign/Likely_benign	0.7801	synonymous_SNV	exonic	.	0.7801	0.7788	0.7619	-1.5
chr1	227069737	PSEN2	C	T	142	0.443291	.	MedGen:C1847200,OMIM:606889|MedGen:CN043596|MedGen:CN169374|MedGen:CN239310	Alzheimer_disease,_type_4|Early-Onset_Familial_Alzheimer_Disease|not_specified|Dilated_Cardiomyopathy,_Dominant	Benign/Likely_benign	0.5425	synonymous_SNV	exonic	.	0.5388	0.5342	0.5173	-1.5
chr1	227071449	PSEN2	G	A	2	0.0179712	2.001	MedGen:C0002395,OMIM:104300,SNOMED_CT:26929004|MedGen:C1847200,OMIM:606889|MedGen:CN043596|MedGen:CN239310|MedGen:CN517202	Alzheimer's_disease|Alzheimer_disease,_type_4|Early-Onset_Familial_Alzheimer_Disease|Dilated_Cardiomyopathy,_Dominant|not_provided	Benign/Likely_benign	0.0036	nonsynonymous_SNV	exonic	D	0.0026	0.0024	0.0015	-0.5
chr1	227071469	PSEN2	C	G	1	.	0.784	MedGen:CN517202	not_provided	Uncertain_significance	0.0002	nonsynonymous_SNV	exonic	D	.	0.0002	6.667e-05	2
chr1	227071525	PSEN2	C	T	142	0.443291	.	MedGen:C1847200,OMIM:606889|MedGen:CN043596|MedGen:CN169374|MedGen:CN239310	Alzheimer_disease,_type_4|Early-Onset_Familial_Alzheimer_Disease|not_specified|Dilated_Cardiomyopathy,_Dominant	Benign/Likely_benign	0.5418	synonymous_SNV	exonic	.	0.5395	0.5348	0.5179	-1.5
chr1	227075772	PSEN2	G	A	1	.	.	.	.	.	0	.	intronic	.	.	0	.	2
chr1	227075813	PSEN2	A	G	2	0.000399361	1.890	.	.	.	0.0003	nonsynonymous_SNV	exonic	D	0.0003	0.0003	0.0004	2
chr1	227075920	PSEN2	A	G	2	0.00419329	.	.	.	.	.	.	intronic	.	0.0113	.	0.0214	-1
chr1	227076671	PSEN2	T	C	4	0.0291534	.	MedGen:CN043596|MedGen:CN169374|MedGen:CN239310	Early-Onset_Familial_Alzheimer_Disease|not_specified|Dilated_Cardiomyopathy,_Dominant	Likely_benign	0.0064	synonymous_SNV	exonic	.	0.0073	0.0062	0.0057	-1.5
chr1	227078955	PSEN2	T	C	183	0.722843	.	.	.	.	0.7860	.	intronic	.	0.7797	0.7796	0.7624	-1
chr1	227081847	PSEN2	CCAG	CCAA	6	.	.	.	.	.	.	.	intronic\x3bintronic	.	.	.	.	4
chr1	227081848	PSEN2	CAG	CAA	2	.	.	.	.	.	.	.	intronic\x3bintronic	.	.	.	.	2
chr1	227081850	PSEN2	G	A	137	0.574081	.	.	.	.	0.5668	.	intronic	.	0.5608	0.5551	0.5390	-1
chr1	228399479	C1orf145	ACCC	ACCG,CCCC	137	.	.	.	.	.	.	.	ncRNA_intronic	.	.	.	.	4
chr1	228399480	C1orf145	CCC	CCG	12	.	.	.	.	.	.	.	ncRNA_intronic\x3bncRNA_intronic\x3bncRNA_intronic	.	.	.	.	4
chr1	228399481	C1orf145	CC	CG	2	.	.	.	.	.	.	.	ncRNA_intronic\x3bncRNA_intronic\x3bncRNA_intronic	.	.	.	.	2
chr1	228399482	C1orf145	C	G	122	0.721046	.	.	.	.	0.6207	.	ncRNA_intronic	.	0.6129	0.6047	0.6098	-1
chr1	228399766	OBSCN	T	C	140	0.726238	.	.	.	.	0.6233	synonymous_SNV	exonic	.	0.6178	0.6077	0.6101	-1
chr1	228399799	OBSCN	C	T	8	0.0507188	.	.	.	.	0.0482	synonymous_SNV	exonic	.	0.037	0.0415	0.0477	-1
chr1	228399980	OBSCN	G	A	1	0.000399361	0.913	.	.	.	0.0008	nonsynonymous_SNV	exonic	T	.	0.0015	0.0013	0
chr1	228400152	OBSCN	T	G	1	.	3.598	.	.	.	.	nonsynonymous_SNV	exonic	T	.	5.042e-05	7.028e-05	2
chr1	228401183	OBSCN	G	C	1	0.000998403	4.903	.	.	.	0.0002	nonsynonymous_SNV	exonic	D	.	9.569e-05	0.0002	1
chr1	228401329	OBSCN	C	T	2	0.00339457	.	.	.	.	0.0130	synonymous_SNV	exonic	.	0.0074	0.0074	0.0067	-1
chr1	228401978	OBSCN	G	A	1	.	.	.	.	.	3.11e-05	synonymous_SNV	exonic	.	.	5.462e-05	0.0002	2
chr1	228402047	OBSCN	A	G	140	0.719848	.	.	.	.	0.6132	synonymous_SNV	exonic	.	0.6095	0.6117	0.6098	-1
chr1	228402063	OBSCN	T	C	1	.	-1.102	.	.	.	4.554e-05	nonsynonymous_SNV	exonic	T	.	6.312e-05	.	2
chr1	228402121	OBSCN	AGTT	GGTT	140	0.719649	3.331	.	.	.	0.6122	nonsynonymous_SNV	exonic	T	0.6065	0.6117	0.6104	-1
chr1	228402129	OBSCN	G	A	1	.	6.651	.	.	.	0.0004	nonsynonymous_SNV	exonic	D	0.0002	0.0001	.	3
chr1	228402508	OBSCN	C	T	89	0.275759	.	.	.	.	0.4016	synonymous_SNV	exonic	.	0.3900	0.3857	0.3888	-1
chr1	228404198	OBSCN	G	A	11	0.0535144	.	.	.	.	0.0822	synonymous_SNV	exonic	.	0.0367	0.0404	0.0461	-1
chr1	228404305	OBSCN	G	A	2	0.00279553	-0.246	.	.	.	0.0171	nonsynonymous_SNV	exonic	T	0.0084	0.0089	0.0085	-1
chr1	228404377	OBSCN	G	A	1	0.000998403	2.131	.	.	.	0	nonsynonymous_SNV	exonic	T	.	5.634e-05	0	0
chr1	228404382	OBSCN	G	A	1	.	1.029	.	.	.	9.327e-05	nonsynonymous_SNV	exonic	T	0.0001	2.862e-05	.	2
chr1	228404777	OBSCN	C	T	1	.	0.550	.	.	.	3.055e-05	nonsynonymous_SNV	exonic	T	0.0001	8.998e-05	.	2
chr1	228404997	OBSCN	C	T	7	0.0169728	.	.	.	.	0.0407	.	intronic	.	0.0401	0.0415	0.0410	-1
chr1	228407010	OBSCN	C	T	90	0.285343	.	.	.	.	0.4470	.	intronic	.	.	0.3863	0.3856	-1
chr1	228407059	OBSCN	G	T	7	0.0135783	.	.	.	.	0.0377	synonymous_SNV	exonic	.	.	0.0369	0.0370	-1
chr1	228407260	OBSCN	G	A	90	0.277157	.	.	.	.	0.4158	synonymous_SNV	exonic	.	.	0.3813	0.3852	-1
chr1	228407265	OBSCN	G	A	2	0.0429313	0.971	.	.	.	0.0358	nonsynonymous_SNV	exonic	.	.	0.0266	0.0339	-1
chr1	228412227	OBSCN	TG	CA,CG	2	0.41254	.	.	.	.	0.3914	synonymous_SNV	exonic	.	.	0.3905	0.3890	-1
chr1	228412308	OBSCN	G	A	93	0.41254	.	.	.	.	0.3933	synonymous_SNV	exonic	.	0.3925	0.3930	0.3944	-1
chr1	228412370	OBSCN	C	T	1	0.00179712	1.159	.	.	.	3.013e-05	nonsynonymous_SNV	exonic	T	.	2.692e-05	0	0
chr1	228430865	OBSCN	T	G	1	0.00798722	.	.	.	.	0.0001	.	intronic	.	.	7.499e-05	6.659e-05	0
chr1	228431095	OBSCN	A	G	144	0.616613	.	.	.	.	0.6797	synonymous_SNV	exonic	.	0.6828	0.6767	0.6910	-1
chr1	228432108	OBSCN	C	A,T	144	0.000399361	0.991	.	.	.	5.994e-05	nonsynonymous_SNV	exonic	T	0.0002	7.162e-05	6.663e-05	3
chr1	228432264	OBSCN	A	T	8	0.0171725	0.066	.	.	.	0.0425	nonsynonymous_SNV	exonic	T	0.0401	0.0419	0.0395	-1
chr1	228433171	OBSCN	C	T	1	0.000798722	0.182	.	.	.	0.0009	nonsynonymous_SNV	exonic	T	0.0005	0.0007	0.0005	0
chr1	228433217	OBSCN	A	G	144	0.616613	.	.	.	.	0.6794	synonymous_SNV	exonic	.	0.6825	0.6768	0.6913	-1
chr1	228433346	OBSCN	C	T	2	0.0587061	.	.	.	.	0.0039	synonymous_SNV	exonic	.	0.0028	0.0033	0.0029	-1
chr1	228434322	OBSCN	A	G	1	.	2.410	.	.	.	2.998e-05	nonsynonymous_SNV	exonic	T	.	1.791e-05	.	2
chr1	228434395	OBSCN	T	C	144	0.617612	.	.	.	.	0.6794	synonymous_SNV	exonic	.	0.6833	0.6768	0.6906	-1
chr1	228434420	OBSCN	G	T	1	.	1.831	.	.	.	3e-05	nonsynonymous_SNV	exonic	T	.	1.791e-05	.	2
chr1	228434467	OBSCN	T	C,G	1	.	.	.	.	.	.	synonymous_SNV	exonic	.	.	0	.	2
chr1	228437772	OBSCN	G	A	1	0.0611022	.	.	.	.	0.0028	synonymous_SNV	exonic	.	0.0025	0.0027	0.0026	-1
chr1	228444385	OBSCN	T	C	2	0.0157748	-3.108	.	.	.	0.0015	nonsynonymous_SNV	exonic	T	0.0015	0.0016	0.0009	-1
chr1	228444565	OBSCN	T	A	230	1	0.030	.	.	.	1	nonsynonymous_SNV	exonic	T	.	1	1	-1
chr1	228447315	OBSCN	TGGTACAAGGACG	TG	1	.	.	.	.	.	.	frameshift_deletion	exonic	.	.	.	.	2
chr1	228447457	OBSCN	C	G	1	.	2.368	.	.	.	.	nonsynonymous_SNV	exonic	T	.	.	.	2
chr1	228447463	OBSCN	G	A	6	0.00239617	0.355	.	.	.	0.0133	nonsynonymous_SNV	exonic	T	0.0110	0.0120	0.0103	-1
chr1	228447490	OBSCN	G	A	2	0.0153754	.	.	.	.	0.0016	.	intronic	.	0.0013	0.0016	0.0009	-1
chr1	228451826	OBSCN	C	T	52	0.30631	0.352	.	.	.	0.2922	nonsynonymous_SNV	exonic	T	0.2810	0.2892	0.3003	-1
chr1	228451850	OBSCN	C	T	1	.	-0.663	.	.	.	1.504e-05	nonsynonymous_SNV	exonic	T	.	1.791e-05	.	2
chr1	228452016	OBSCN	G	C	7	0.00399361	-1.319	.	.	.	0.0190	nonsynonymous_SNV	exonic	T	0.0195	0.0186	0.0189	-1
chr1	228452032	OBSCN	G	A	2	0.0571086	3.095	.	.	.	0.0043	nonsynonymous_SNV	exonic	T	0.0044	0.0042	0.0031	-1
chr1	228459861	OBSCN	C	T	1	.	.	.	.	.	0	synonymous_SNV	exonic	.	.	0	6.669e-05	2
chr1	228461097	OBSCN	C	G	5	0.00219649	1.035	.	.	.	0.0079	nonsynonymous_SNV	exonic	T	.	0.0074	0.0097	2
chr1	228461129	OBSCN	A	G	152	0.69349	-0.541	.	.	.	0.6973	nonsynonymous_SNV	exonic	T	0.6953	0.6933	0.7098	-1
chr1	228461187	OBSCN	T	C	5	0.00958466	.	.	.	.	0.0226	synonymous_SNV	exonic	.	0.0250	0.0219	0.0200	-1
chr1	228461200	OBSCN	A	G	1	.	3.916	.	.	.	.	nonsynonymous_SNV	exonic	T	.	8.985e-06	.	2
chr1	228461757	OBSCN	G	A	52	0.206669	.	.	.	.	0.1897	.	intronic	.	0.1774	0.1830	0.1770	-1
chr1	228461767	OBSCN	C	T	1	.	.	.	.	.	0.0002	.	intronic	.	.	0.0001	6.677e-05	1
chr1	228461999	OBSCN	C	T	2	0.000399361	1.078	.	.	.	0.0014	nonsynonymous_SNV	exonic	T	0.0014	0.0014	0.0009	0
chr1	228462520	OBSCN	C	T	1	0.00179712	.	.	.	.	0.0006	synonymous_SNV	exonic	.	0.0002	0.0005	0.0007	0
chr1	228464246	OBSCN	GAT	GAG	2	.	.	.	.	.	.	frameshift_deletion	exonic	.	.	.	.	2
chr1	228464248	OBSCN	T	G	150	0.695487	-0.460	.	.	.	0.6998	nonsynonymous_SNV	exonic	T	0.6965	0.6944	0.7121	-1
chr1	228464255	OBSCN	T	C	2	0.00259585	4.777	.	.	.	0.0115	nonsynonymous_SNV	exonic	T	0.0109	0.0105	0.0102	-1
chr1	228464276	OBSCN	T	C	152	0.663538	-0.742	.	.	.	0.6993	nonsynonymous_SNV	exonic	T	0.6960	0.6931	0.7115	-1
chr1	228464303	OBSCN	G	T	9	0.00459265	1.771	.	.	.	0.0290	nonsynonymous_SNV	exonic	T	0.0278	0.0253	0.0274	-1
chr1	228464633	OBSCN	C	G	1	0.00299521	2.771	.	.	.	0.0069	nonsynonymous_SNV	exonic	T	0.0026	0.0010	0.0007	0
chr1	228464713	OBSCN	G	A	1	.	.	.	.	.	0.0004	synonymous_SNV	exonic	.	0.0005	0.0001	6.688e-05	0
chr1	228464841	OBSCN	TC	TG	2	.	.	.	.	.	.	.	intronic	.	.	.	.	2
chr1	228464842	OBSCN	C	G	149	0.69369	.	.	.	.	0.7158	.	intronic	.	0.6953	0.6887	0.7050	-1
chr1	228465031	OBSCN	G	A	1	0.000399361	.	.	.	.	0.0031	.	intronic	.	0.0022	0.0030	0.0018	0
chr1	228465346	OBSCN	A	G	89	0.330072	3.591	.	.	.	0.5114	nonsynonymous_SNV	exonic	.	.	0.3862	0.3808	-1
chr1	228465359	OBSCN	G	A	1	.	5.982	.	.	.	0.0001	nonsynonymous_SNV	exonic	.	.	3.278e-05	.	3
chr1	228465370	OBSCN	T	G	146	0.669529	.	.	.	.	0.7351	.	intronic	.	.	0.6986	0.7141	-1
chr1	228465427	OBSCN	G	A	1	0.00259585	.	.	.	.	6.294e-05	.	intronic	.	.	7.216e-05	6.671e-05	0
chr1	228466650	OBSCN	G	A	1	0.000199681	5.169	.	.	.	0.0001	nonsynonymous_SNV	exonic	T	.	6.316e-05	0	2
chr1	228466862	OBSCN	C	T	8	0.0421326	.	.	.	.	0.0370	.	intronic	.	0.0331	0.0355	0.0363	-1
chr1	228466908	OBSCN	G	A	1	.	4.883	.	.	.	.	nonsynonymous_SNV	exonic	T	.	.	.	2
chr1	228467072	OBSCN	C	G	1	0.00299521	.	.	.	.	0.0132	synonymous_SNV	exonic	.	0.0101	0.0124	0.0206	-1
chr1	228467095	OBSCN	T	C,G	1	.	3.503	.	.	.	.	nonsynonymous_SNV	exonic	T	.	.	.	2
chr1	228467162	OBSCN	C	T	2	0.0255591	.	.	.	.	0.0017	.	intronic	.	0.0018	0.0018	0.0012	-1
chr1	228467711	OBSCN	G	A	9	0.0836661	3.250	.	.	.	0.0370	nonsynonymous_SNV	exonic	T	0.0184	0.0218	0.0221	-1
chr1	228467881	OBSCN	G	A	1	0.000599042	.	.	.	.	0.0005	synonymous_SNV	exonic	.	0.0002	0.0003	6.682e-05	0
chr1	228468161	OBSCN	G	A	1	.	.	.	.	.	5.497e-05	.	intronic	.	.	1.951e-05	.	2
chr1	228468244	OBSCN	G	A	9	0.113618	.	.	.	.	0.0230	synonymous_SNV	exonic	.	0.0183	0.0219	0.0225	-1
chr1	228468458	OBSCN	G	A	57	0.31889	1.572	.	.	.	0.3115	nonsynonymous_SNV	exonic	T	0.2785	0.3061	0.3193	-1
chr1	228469801	OBSCN	G	C	5	0.0111821	5.043	.	.	.	0.0216	nonsynonymous_SNV	exonic	T	0.0219	0.0211	0.0214	0
chr1	228469870	OBSCN	C	T	9	0.0872604	2.777	.	.	.	0.0222	nonsynonymous_SNV	exonic	T	0.0178	0.0210	0.0217	-1
chr1	228469903	OBSCN	AG	TT	2	.	.	.	.	.	.	nonframeshift_substitution	exonic	.	.	.	.	2
chr1	228470995	OBSCN	G	T	56	0.318091	.	.	.	.	0.3709	.	intronic	.	0.2859	0.2972	0.3185	-1
chr1	228471247	OBSCN	G	A	1	.	.	.	.	.	.	synonymous_SNV	exonic	.	.	.	.	2
chr1	228471294	OBSCN	C	T	1	.	0.639	.	.	.	0.0004	nonsynonymous_SNV	exonic	T	0.0005	0.0004	0.0004	0
chr1	228471379	OBSCN	G	C	85	0.230232	.	.	.	.	0.3727	synonymous_SNV	exonic	.	0.3681	0.3719	0.3705	-1
chr1	228474032	OBSCN	G	A	1	0.00958466	.	.	.	.	0.0081	synonymous_SNV	exonic	.	0.0028	0.0012	0.0009	0
chr1	228475456	OBSCN	C	T	1	.	.	.	.	.	0.0002	synonymous_SNV	exonic	.	0.0001	0.0002	0.0002	1
chr1	228475848	OBSCN	G	A	55	0.302716	4.107	.	.	.	0.3041	nonsynonymous_SNV	exonic	T	0.2973	0.3017	0.3168	-1
chr1	228476018	OBSCN	C	T	1	.	.	.	.	.	4.548e-05	synonymous_SNV	exonic	.	.	3.684e-05	.	2
chr1	228476366	OBSCN	GA	TT	9	.	.	.	.	.	.	nonframeshift_substitution	exonic	.	.	.	.	4
chr1	228476414	OBSCN	G	A	9	0.0938498	.	.	.	.	0.0225	synonymous_SNV	exonic	.	0.0186	0.0218	0.0224	-1
chr1	228476420	OBSCN	C	T	1	0.000199681	.	.	.	.	0.0028	synonymous_SNV	exonic	.	0.0039	0.0028	0.0027	0
chr1	228476484	OBSCN	G	A	1	0.00798722	6.121	.	.	.	0.0001	nonsynonymous_SNV	exonic	D	.	8.056e-05	6.669e-05	2
chr1	228479664	OBSCN	T	C	1	.	.	.	.	.	0.0002	synonymous_SNV	exonic	.	0.0002	0.0002	0.0002	1
chr1	228479825	OBSCN	C	T	2	0.000399361	.	.	.	.	0.0016	synonymous_SNV	exonic	.	0.0021	0.0017	0.0011	0
chr1	228480282	OBSCN	A	G	152	0.698882	.	.	.	.	0.7029	synonymous_SNV	exonic	.	0.7022	0.6999	0.7148	-1
chr1	228480317	OBSCN	C	T	1	0.00738818	5.205	.	.	.	7.492e-05	nonsynonymous_SNV	exonic	T	.	7.161e-05	6.673e-05	1
chr1	228480335	OBSCN	G	T	1	.	5.443	.	.	.	5.993e-05	nonsynonymous_SNV	exonic	D	.	7.161e-05	6.668e-05	4
chr1	228480382	OBSCN	G	A	2	.	5.585	.	.	.	0	nonsynonymous_SNV	exonic	D	.	8.952e-06	0	4
chr1	228480441	OBSCN	G	A	1	0.00958466	.	.	.	.	0.0030	synonymous_SNV	exonic	.	0.0032	0.0012	0.0009	0
chr1	228481046	OBSCN	TCCCCCA	TCCCCCCA	1	.	.	.	.	.	7.728e-05	.	intronic	.	.	6.335e-05	.	2
chr1	228481854	OBSCN	C	T	1	0.000199681	.	.	.	.	0.0006	synonymous_SNV	exonic	.	0.0004	0.0003	0.0003	0
chr1	228481917	OBSCN	G	A	5	0.00878594	.	.	.	.	0.0193	synonymous_SNV	exonic	.	0.0229	0.0188	0.0157	-1
chr1	228482010	OBSCN	C	T	90	0.381989	.	.	.	.	0.4961	synonymous_SNV	exonic	.	0.4953	0.497	0.5212	-1
chr1	228482028	OBSCN	G	C	53	0.21246	.	.	.	.	0.1837	synonymous_SNV	exonic	.	0.1766	0.1808	0.1697	-1
chr1	228482059	OBSCN	G	A	2	0.00798722	5.747	.	.	.	0.0327	nonsynonymous_SNV	exonic	T	0.0421	0.0352	0.0357	0
chr1	228482569	OBSCN	G	A	5	0.0127796	.	.	.	.	0.0324	synonymous_SNV	exonic	.	0.0324	0.0338	0.0346	-1
chr1	228486404	OBSCN	C	T	49	0.165935	0.548	.	.	.	0.1816	nonsynonymous_SNV	exonic	T	0.1788	0.1769	0.1673	-1
chr1	228487176	OBSCN	CATG	CG	1	.	.	.	.	.	0.0003	frameshift_deletion	exonic	.	.	0.0003	0.0003	1
chr1	228487677	OBSCN	C	G	1	.	.	.	.	.	1.581e-05	synonymous_SNV	exonic	.	.	9.158e-06	.	2
chr1	228487853	OBSCN	A	G	2	0.033746	.	.	.	.	0.0018	.	intronic	.	0.0015	0.0018	0.0011	-1
chr1	228491633	OBSCN	G	A	9	0.052516	0.427	.	.	.	0.0391	nonsynonymous_SNV	exonic	T	0.0397	0.0372	0.0372	-1
chr1	228492044	OBSCN	G	A	91	0.369209	.	.	.	.	0.4986	synonymous_SNV	exonic	.	0.4905	0.4974	0.5219	-1
chr1	228492069	OBSCN	C	T	1	.	.	.	.	.	4.52e-05	synonymous_SNV	exonic	.	.	5.379e-05	.	2
chr1	228492220	OBSCN	C	T	7	0.00539137	2.422	.	.	.	0.0176	nonsynonymous_SNV	exonic	T	0.0158	0.0179	0.0175	-1
chr1	228494209	OBSCN	T	C	1	0.000599042	.	.	.	.	0.0016	synonymous_SNV	exonic	.	0.0010	0.0016	0.0011	0
chr1	228494216	OBSCN	C	T	2	0.000399361	2.032	.	.	.	0.0015	nonsynonymous_SNV	exonic	T	0.0013	0.0014	0.0008	0
chr1	228494357	OBSCN	C	T	49	0.166733	.	.	.	.	0.1894	.	intronic	.	0.1716	0.1765	0.1683	-1
chr1	228494696	OBSCN	G	A	60	0.308506	.	.	.	.	0.2636	synonymous_SNV	exonic	.	0.1945	0.2031	0.1925	-1
chr1	228494790	OBSCN	G	A	91	0.26857	2.944	.	.	.	0.4976	nonsynonymous_SNV	exonic	T	0.4939	0.4972	0.5210	-1
chr1	228495983	OBSCN	G	A	1	.	2.180	.	.	.	0.0023	nonsynonymous_SNV	exonic	T	0.0017	0.0025	0.0018	0
chr1	228496013	OBSCN	C	T	2	0.000599042	4.963	.	.	.	0.0007	nonsynonymous_SNV	exonic	T	0.0001	0.0006	0.0003	0
chr1	228496014	OBSCN	G	A	51	0.213059	.	.	.	.	0.2152	synonymous_SNV	exonic	.	0.1772	0.1819	0.1705	-1
chr1	228496023	OBSCN	C	T	1	0.000199681	.	.	.	.	0.0007	synonymous_SNV	exonic	.	0.0001	0.0005	0.0003	0
chr1	228496066	OBSCN	G	T	2	0.00638978	4.677	.	.	.	0.0628	nonsynonymous_SNV	exonic	T	0.0313	0.0418	0.0431	-1
chr1	228497271	OBSCN	C	A	1	0.000599042	.	.	.	.	0.0032	.	intronic	.	0.0041	0.0026	0.0030	0
chr1	228497286	OBSCN	C	A	9	0.0932508	.	.	.	.	0.0227	.	intronic	.	0.0188	0.0218	0.0224	-1
chr1	228503566	OBSCN	G	A	2	0.033746	1.362	.	.	.	0.0021	nonsynonymous_SNV	exonic	T	0.0017	0.0018	0.0013	-1
chr1	228503580	OBSCN	G	A	1	.	3.941	.	.	.	.	nonsynonymous_SNV	exonic	T	.	0	.	2
chr1	228503677	OBSCN	A	G	152	0.700879	-2.279	.	.	.	0.7111	nonsynonymous_SNV	exonic	T	0.7056	0.6950	0.7144	-1
chr1	228503711	OBSCN	G	A	4	0.0129792	.	.	.	.	0.0523	synonymous_SNV	exonic	.	0.0327	0.0380	0.0432	-1
chr1	228504472	OBSCN	T	C	152	0.699281	-1.304	.	.	.	0.7040	nonsynonymous_SNV	exonic	T	0.7008	0.6982	0.7147	-1
chr1	228504507	OBSCN	G	T	2	0.00499201	.	.	.	.	0.0256	synonymous_SNV	exonic	.	0.0203	0.0220	0.0176	-1
chr1	228504574	OBSCN	G	A	1	0.00519169	1.672	.	.	.	0.0001	nonsynonymous_SNV	exonic	T	0.0001	9.653e-05	0	0
chr1	228504591	OBSCN	C	A	49	0.145367	1.476	.	.	.	0.2674	nonsynonymous_SNV	exonic	T	0.1672	0.1833	0.1681	-1
chr1	228504669	OBSCN	G	A	49	0.145567	.	.	.	.	0.2135	synonymous_SNV	exonic	.	0.1453	0.1818	0.1725	-1
chr1	228504670	OBSCN	C	T	91	0.330272	3.693	.	.	.	0.5071	nonsynonymous_SNV	exonic	T	0.4398	0.4992	0.5236	-1
chr1	228504701	OBSCN	GCT	GCTCCCT	151	.	.	.	.	.	.	.	intronic	.	.	.	.	4
chr1	228505204	OBSCN	GCA	ACA	60	0.315296	3.357	.	.	.	0.2095	nonsynonymous_SNV	exonic	T	0.1944	0.2031	0.1924	-1
chr1	228505235	OBSCN	A	G	1	.	.	.	.	.	0.0003	synonymous_SNV	exonic	.	0.0005	0.0004	0.0004	0
chr1	228505257	OBSCN	G	A	1	0.000399361	3.689	.	.	.	0.0008	nonsynonymous_SNV	exonic	T	0.0006	0.0005	0.0002	0
chr1	228505326	OBSCN	C	A	1	.	4.051	.	.	.	.	nonsynonymous_SNV	exonic	T	.	0	.	2
chr1	228505431	OBSCN	C	T	1	0.00738818	.	.	.	.	7.817e-05	synonymous_SNV	exonic	.	.	7.511e-05	6.674e-05	0
chr1	228505667	OBSCN	TC	TG	2	.	.	.	.	.	.	frameshift_deletion	exonic	.	.	.	.	2
chr1	228505668	OBSCN	C	G	150	0.699281	0.755	.	.	.	0.7027	nonsynonymous_SNV	exonic	T	0.7016	0.6997	0.7146	-1
chr1	228505699	OBSCN	T	C	152	0.705871	.	.	.	.	0.7045	synonymous_SNV	exonic	.	0.7008	0.7007	0.7147	-1
chr1	228505727	OBSCN	C	T	9	0.086262	2.382	.	.	.	0.0226	nonsynonymous_SNV	exonic	T	0.0186	0.0218	0.0222	-1
chr1	228505739	OBSCN	G	A	49	0.173123	0.313	.	.	.	0.1804	nonsynonymous_SNV	exonic	T	0.1735	0.1780	0.1681	-1
chr1	228506649	OBSCN	G	A	1	.	.	.	.	.	0	synonymous_SNV	exonic	.	.	0	.	2
chr1	228506661	OBSCN	G	A	10	0.0107827	.	.	.	.	0.0592	synonymous_SNV	exonic	.	0.0230	0.0234	0.0184	-1
chr1	228509427	OBSCN	A	G	152	0.684704	-0.311	.	.	.	0.7021	nonsynonymous_SNV	exonic	T	0.6968	0.6995	0.7147	-1
chr1	228509681	OBSCN	G	T	1	0.000599042	3.543	.	.	.	0.0009	nonsynonymous_SNV	exonic	T	0.0019	0.0010	0.0026	0
chr1	228509797	OBSCN	G	A	1	.	.	.	.	.	1.644e-05	synonymous_SNV	exonic	.	.	9.161e-06	.	2
chr1	228520597	OBSCN	C	T	1	.	7.382	.	.	.	0.0002	nonsynonymous_SNV	exonic	T	0.0006	0.0003	0.0003	1
chr1	228520880	OBSCN	C	T	75	0.341853	.	.	.	.	0.4551	.	intronic	.	0.4158	0.4122	0.4488	-1
chr1	228520972	OBSCN	CC	CG	2	.	.	.	.	.	.	frameshift_deletion	exonic	.	.	.	.	2
chr1	228520973	OBSCN	C	G	72	0.335064	1.995	.	.	.	0.4651	nonsynonymous_SNV	exonic	T	0.4179	0.4187	0.4485	-1
chr1	228522483	OBSCN	C	T	8	0.034345	.	.	.	.	0.0484	.	intronic	.	0.0328	0.0369	0.0369	-1
chr1	228522776	OBSCN	C	A	2	0.0357428	.	.	.	.	0.0040	.	intronic	.	0.0017	0.0019	0.0011	-1
chr1	228523005	OBSCN	TGGGGGT	TGGGGGGT,TGGGGGG	2	.	.	.	.	.	.	.	intronic	.	0.1070	.	.	-1
chr1	228523011	OBSCN	T	G	8	.	.	.	.	.	.	.	intronic	.	.	0.0333	0	-1
chr1	228523447	OBSCN	TG	CA,CG	8	0.813498	.	.	.	.	0.8273	.	intronic	.	0.8251	0.8253	0.8306	-1
chr1	228523476	OBSCN	C	T	1	.	.	.	.	.	.	.	intronic	.	.	8.953e-06	.	2
chr1	228523602	OBSCN	C	T	2	0.0447284	.	.	.	.	0.0019	.	intronic	.	0.0023	0.0019	0.0014	-1
chr1	228523618	OBSCN	G	A	101	0.474241	.	.	.	.	.	.	intronic	.	0.5195	.	0.5431	-1
chr1	228523866	OBSCN	C	G	1	0.00119808	.	.	.	.	0.0047	.	intronic	.	0.0031	0.0039	0.0021	0
chr1	228524756	OBSCN	T	C	3	0.000399361	5.525	.	.	.	0.0015	nonsynonymous_SNV	exonic	T	0.0017	0.0017	0.0011	2
chr1	228524961	OBSCN	C	A	74	0.239816	.	.	.	.	0.4306	synonymous_SNV	exonic	.	0.4226	0.4274	0.4482	-1
chr1	228525008	OBSCN	G	A	40	0.0766773	4.879	.	.	.	0.1499	nonsynonymous_SNV	exonic	T	0.1356	0.1403	0.1305	-1
chr1	228525627	OBSCN	C	A	74	0.240216	.	.	.	.	0.4565	.	intronic	.	0.4221	0.4218	0.4463	-1
chr1	228525823	OBSCN	C	T	2	0.000998403	6.985	.	.	.	0.0004	nonsynonymous_SNV	exonic	T	0.0004	0.0007	0.0005	1
chr1	228526011	OBSCN	C	T	38	0.117612	.	.	.	.	0.1745	synonymous_SNV	exonic	.	0.1578	0.1490	0.1545	-1
chr1	228526087	OBSCN	G	A	1	.	.	.	.	.	0.0001	.	intronic	.	.	6.554e-05	0	2
chr1	228526578	OBSCN	T	A	6	0.00439297	4.894	.	.	.	0.0137	nonsynonymous_SNV	exonic	T	0.0095	0.0104	0.0106	-1
chr1	228526619	OBSCN	G	A	2	0.000399361	3.667	.	.	.	0.0008	nonsynonymous_SNV	exonic	T	0.0001	0.0005	0.0005	0
chr1	228526665	OBSCN	T	C,G	2	.	.	.	.	.	.	synonymous_SNV	exonic	.	.	.	.	2
chr1	228526742	OBSCN	CCACACACACACACACACACACACACACACACACACG	CCACACACACACACACACACACACACACACACACG,CCACACACACACACACACACACACACACACACACACACG,CCACACACACACACACACACACACACACACACG,CCACACACACACACACACACACACACACACACACACACACACG,CCACACACACACACACACACACACACACACACACACACACG	2	.	.	.	.	.	0.1081	.	intronic	.	.	0.1567	0.0823	-1
chr1	228528185	OBSCN	C	T	1	.	.	.	.	.	0	.	intronic	.	.	0	.	2
chr1	228528410	OBSCN	TCG	TCA	2	.	.	.	.	.	.	.	intronic	.	.	.	.	2
chr1	228528412	OBSCN	G	A	74	0.351837	.	.	.	.	0.4383	.	intronic	.	0.4247	0.4300	0.4487	-1
chr1	228528563	OBSCN	CA	GA	104	0.538738	0.194	.	.	.	0.5577	nonsynonymous_SNV	exonic	T	0.5203	0.5185	0.5473	-1
chr1	228528940	OBSCN	C	T	1	.	6.618	.	.	.	.	nonsynonymous_SNV	exonic	T	.	0	.	3
chr1	228529119	OBSCN	CAC	CAAC	2	0.0363419	.	.	.	.	0.0020	.	intronic	.	0.0021	0.0018	0.0012	-1
chr1	228529129	OBSCN	C	A	26	0.138179	.	.	.	.	0.1101	.	intronic	.	0.0945	0.0990	0.1036	-1
chr1	228529848	OBSCN	C	T	1	0.0185703	.	.	.	.	3.356e-05	synonymous_SNV	exonic	.	0.0002	5.842e-05	0.0003	-1
chr1	228538568	OBSCN	C	G	2	0.00119808	5.894	.	.	.	0.0038	nonsynonymous_SNV	exonic	T	0.0041	0.0027	0.0022	1
chr1	228538625	OBSCN	G	A	1	.	0.772	.	.	.	1.56e-05	nonsynonymous_SNV	exonic	T	.	.	6.671e-05	2
chr1	228538668	OBSCN	AT	GT	2	.	.	.	.	.	.	.	intronic	.	.	.	.	2
chr1	228540724	OBSCN	G	A	1	.	4.994	.	.	.	.	nonsynonymous_SNV	exonic	T	.	.	.	2
chr1	228543800	OBSCN	C	T	29	0.172125	.	.	.	.	.	.	intronic	.	0.0899	.	0.0976	-1
chr1	228547511	OBSCN	G	A	2	0.0469249	.	.	.	.	0.0038	synonymous_SNV	exonic	.	0.0024	0.0022	0.0022	-1
chr1	228547647	OBSCN	A	G	1	.	0.103	.	.	.	.	nonsynonymous_SNV	exonic	T	.	.	.	2
chr1	228547769	OBSCN	C	T	6	0.00479233	.	.	.	.	0.0176	synonymous_SNV	exonic	.	0.0106	0.0103	0.0110	-1
chr1	228547900	OBSCN	AC	AT,CC	6	.	-0.179	.	.	.	.	nonsynonymous_SNV	exonic	T	.	.	.	4
chr1	228547901	OBSCN	C	T	75	0.298722	.	.	.	.	0.2981	synonymous_SNV	exonic	.	0.3011	0.2996	0.2846	-1
chr1	228548116	OBSCN	C	A	2	0.0357428	1.109	.	.	.	0.0019	nonsynonymous_SNV	exonic	T	0.0018	0.0018	0.0012	-1
chr1	228548197	OBSCN	G	A	28	0.147764	-0.089	.	.	.	0.0996	nonsynonymous_SNV	exonic	T	0.0857	0.0907	0.0958	-1
chr1	228548288	OBSCN	T	A,G	28	.	.	.	.	.	.	synonymous_SNV	exonic	.	.	.	.	4
chr1	228550344	OBSCN	G	A	4	0.000199681	.	.	.	.	0.0008	synonymous_SNV	exonic	.	0.0007	0.0007	0.0005	1
chr1	228550425	OBSCN	GC	GT	1	.	.	.	.	.	.	frameshift_deletion	exonic	.	.	.	.	2
chr1	228550426	OBSCN	C	T	27	0.146965	-0.124	.	.	.	0.1364	nonsynonymous_SNV	exonic	T	0.0834	0.0910	0.0959	-1
chr1	228550429	OBSCN	C	T	9	0.0443291	0.627	.	.	.	0.0622	nonsynonymous_SNV	exonic	T	0.0362	0.0374	0.0360	-1
chr1	228553245	OBSCN	C	T	2	.	.	.	.	.	.	synonymous_SNV	exonic	.	.	1.842e-05	.	2
chr1	228554558	OBSCN	C	T	1	.	.	.	.	.	.	synonymous_SNV	exonic	.	.	1.452e-05	.	2
chr1	228554691	OBSCN	C	T	1	.	.	.	.	.	0.0001	synonymous_SNV	exonic	.	.	4.893e-05	0.0001	2
chr1	228555672	OBSCN	GCC	GC	1	.	.	.	.	.	.	.	intronic	.	.	.	.	2
chr1	228556014	OBSCN	C	T	2	0.00159744	.	.	.	.	0.0023	.	intronic	.	0.0011	0.0010	0.0011	0
chr1	228556781	OBSCN	C	T	1	0.033746	.	.	.	.	.	.	intronic	.	0.0006	.	0.0027	-1
chr1	228556788	OBSCN	C	T	86	0.320487	.	.	.	.	0.3910	.	intronic	.	0.3585	0.3722	0.3616	-1
chr1	228557681	OBSCN	G	A	1	.	7.200	.	.	.	0.0002	nonsynonymous_SNV	exonic	T	0.0004	0.0001	6.693e-05	2
chr1	228557938	OBSCN	T	C	1	.	4.882	.	.	.	9.236e-05	nonsynonymous_SNV	exonic	T	.	0.0001	0.0001	2
chr1	228558849	OBSCN	C	T	2	0.00519169	.	.	.	.	0.0018	synonymous_SNV	exonic	.	0.0018	0.0015	0.0009	0
chr1	228558892	OBSCN	C	T	15	0.033746	6.518	.	.	.	0.0775	nonsynonymous_SNV	exonic	T	0.0650	0.0658	0.0713	0
chr1	228558952	OBSCN	T	G	1	0.00219649	2.292	.	.	.	0.0158	nonsynonymous_SNV	exonic	T	0.0103	0.0092	0.0119	-1
chr1	228558992	OBSCN	CCAG	CG	1	0.00199681	.	.	.	.	0.0099	frameshift_deletion	exonic	.	0.0038	0.0051	0.0090	0
chr1	228559263	OBSCN	C	T	1	0.000399361	.	.	.	.	9.929e-05	synonymous_SNV	exonic	.	.	2.647e-05	0	1
chr1	228559386	OBSCN	G	A	2	0.122204	.	.	.	.	0.0026	synonymous_SNV	exonic	.	0.0034	0.0018	0.0020	-1
chr1	228559430	OBSCN	G	A	6	0.0217652	-0.220	.	.	.	0.0364	nonsynonymous_SNV	exonic	T	0.0309	0.0366	0.0372	-1
chr1	228559654	OBSCN	G	A	8	0.00499201	1.765	.	.	.	0.0156	nonsynonymous_SNV	exonic	T	0.0152	0.0137	0.0112	-1
chr1	228559957	OBSCN	G	A	1	.	2.980	.	.	.	6.692e-05	nonsynonymous_SNV	exonic	T	0.0002	0.0001	6.675e-05	1
chr1	228559966	OBSCN	CC	CT	1	.	.	.	.	.	.	frameshift_deletion	exonic	.	.	.	.	2
chr1	228559967	OBSCN	C	T	5	0.00499201	2.939	.	.	.	0.0326	nonsynonymous_SNV	exonic	T	0.0136	0.0139	0.0110	-1
chr1	228559994	OBSCN	CGA	TGA	126	0.589058	2.792	.	.	.	0.5975	nonsynonymous_SNV	exonic	T	0.5033	0.5120	0.4981	-1
chr1	228560137	OBSCN	TCA	TCG,GCA	126	.	2.951	.	.	.	.	nonsynonymous_SNV	exonic	T	.	.	.	4
chr1	228560138	OBSCN	CA	CG	22	.	.	.	.	.	.	frameshift_deletion\x3bframeshift_deletion	exonic\x3bexonic	.	.	.	.	4
chr1	228560139	OBSCN	A	G	179	0.974241	.	.	.	.	0.9239	synonymous_SNV	exonic	.	0.9259	0.9205	0.9202	-1
chr1	228560447	OBSCN	T	C	1	.	3.513	.	.	.	4.965e-05	nonsynonymous_SNV	exonic	T	0.0002	5.412e-05	0	1
chr1	228560592	OBSCN	A	G	1	0.000199681	.	.	.	.	0.0007	synonymous_SNV	exonic	.	0.0005	0.0004	6.678e-05	0
chr1	228560700	OBSCN	T	C	160	0.757987	.	.	.	.	0.5550	synonymous_SNV	exonic	.	0.5485	0.5490	0.5350	-1
chr1	228562031	OBSCN	G	A	2	0.0145767	.	.	.	.	0.0027	synonymous_SNV	exonic	.	0.0012	0.0014	0.0009	-1
chr1	228562350	OBSCN	T	C	7	0.00519169	.	.	.	.	0.0261	synonymous_SNV	exonic	.	0.0280	0.0253	0.0283	-1
chr1	228562413	OBSCN	G	A	1	.	.	.	.	.	7.747e-05	synonymous_SNV	exonic	.	.	7.208e-05	6.676e-05	2
chr1	228562438	OBSCN	G	A	1	0.000199681	-0.095	.	.	.	0.0002	nonsynonymous_SNV	exonic	T	.	0.0002	6.684e-05	1
chr1	228563773	OBSCN	C	T	1	0.000199681	.	.	.	.	0.0006	synonymous_SNV	exonic	.	0.0007	0.0004	0.0003	0
chr1	228564601	OBSCN	C	T	1	0.123802	.	.	.	.	0.0038	.	intronic	.	0.0027	0.0016	0.0015	-1
chr1	228564602	OBSCN	G	A	2	0.0145767	.	.	.	.	0.0021	.	intronic	.	0.0014	0.0018	0.0010	-1
chr1	228564884	OBSCN	G	A	30	0.140775	1.749	.	.	.	0.1419	nonsynonymous_SNV	exonic	T	0.0847	0.0935	0.0981	-1
chr1	228565208	OBSCN	C	T	4	0.0117812	.	.	.	.	0.0437	synonymous_SNV	exonic	.	0.0354	0.0385	0.0430	-1
chr1	228565209	OBSCN	G	A	2	0.00179712	7.258	.	.	.	0.0019	nonsynonymous_SNV	exonic	T	0.0010	0.0010	0.0004	1
chr1	228565266	OBSCN	C	T	1	.	-0.434	.	.	.	3.063e-05	nonsynonymous_SNV	exonic	T	.	1.793e-05	.	2
chr1	228565329	OBSCN	G	A	2	0.00499201	3.334	.	.	.	0.0222	nonsynonymous_SNV	exonic	T	0.0231	0.0225	0.0180	-1
chr1	228566084	OBSCN	G	A	1	.	6.597	.	.	.	0.0003	nonsynonymous_SNV	exonic	T	.	0.0003	0.0002	2
chr1	229567660	ACTA1	CGGCGGGGAGC	CGGGCGGGGAGC,CGGGGGGGGAGC	1	.	.	MedGen:CN169374	not_specified	Benign	.	.	intronic	.	.	.	.	2
chr1	229567663	ACTA1	CGG	GGG,CGGG	1	.	.	.	.	.	.	.	intronic	.	.	.	.	2
chr1	229568632	ACTA1	A	G	53	0.273962	.	MedGen:C0206157,Orphanet:ORPHA607,SNOMED_CT:75072002|MedGen:C0340429,Orphanet:ORPHA217635,SNOMED_CT:233878008|MedGen:CN169374|MedGen:CN235628	Nemaline_myopathy|Familial_restrictive_cardiomyopathy|not_specified|Congenital_fiber-type_disproportion	Benign/Likely_benign	0.1808	.	intronic	.	0.1807	0.1743	0.1643	-1
chr1	229568637	ACTA1	C	G	51	0.211861	.	MedGen:C0206157,Orphanet:ORPHA607,SNOMED_CT:75072002|MedGen:C0340429,Orphanet:ORPHA217635,SNOMED_CT:233878008|MedGen:CN169374|MedGen:CN235628	Nemaline_myopathy|Familial_restrictive_cardiomyopathy|not_specified|Congenital_fiber-type_disproportion	Benign/Likely_benign	0.1769	.	intronic	.	0.1751	0.1715	0.1622	-1
chr1	236849952	ACTN2	C	T	7	0.0115815	.	Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2677338,OMIM:612158|MedGen:CN169374|MedGen:CN239310	Hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1AA|not_specified|Dilated_Cardiomyopathy,_Dominant	Benign/Likely_benign	0.0379	.	UTR5	.	0.0399	0.0351	0.0323	-1.5
chr1	236882303	ACTN2	T	C	230	0.992612	.	MedGen:CN169374	not_specified	Benign	0.9999	synonymous_SNV	exonic	.	0.9998	1.0000	1	-1
chr1	236883421	ACTN2	C	T	230	0.920727	.	MedGen:CN169374	not_specified	Benign	0.9953	synonymous_SNV	exonic	.	0.9953	0.9951	0.9949	-1
chr1	236891098	ACTN2	G	A	1	0.000599042	.	.	.	.	0.0016	.	intronic	.	0.0013	0.0015	0.0009	0
chr1	236894647	ACTN2	G	A	74	0.491613	.	.	.	.	0.3134	.	intronic	.	0.3102	0.3086	0.2938	-1
chr1	236899042	ACTN2	G	A	29	0.195887	.	MedGen:CN169374	not_specified	Benign	0.1386	.	intronic	.	0.1356	0.1341	0.1276	-1
chr1	236900554	ACTN2	C	T	10	0.00539137	.	.	.	.	0.0236	.	intronic	.	0.0266	0.0230	0.0231	-1
chr1	236902592	ACTN2	TGC	TGG	2	.	.	.	.	.	.	.	intronic\x3bintronic	.	.	.	.	2
chr1	236902593	ACTN2	GC	GG	24	.	.	.	.	.	.	.	intronic\x3bintronic	.	.	.	.	4
chr1	236902594	ACTN2	C	G	159	0.767572	.	Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2677338,OMIM:612158|MedGen:CN169374|MedGen:CN239310	Hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1AA|not_specified|Dilated_Cardiomyopathy,_Dominant	Benign/Likely_benign	0.7749	.	intronic	.	0.7763	0.7764	0.7852	-1.5
chr1	236907966	ACTN2	G	A	7	0.0347444	.	Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C2677338,OMIM:612158|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310	Hypertrophic_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1AA|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant	Benign/Likely_benign	0.0113	synonymous_SNV	exonic	.	0.0144	0.0116	0.0109	-1.5
chr1	236911012	ACTN2	G	A	1	.	.	Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C2677338,OMIM:612158|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310	Hypertrophic_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1AA|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant	Conflicting_interpretations_of_pathogenicity	0.0010	synonymous_SNV	exonic	.	0.0005	0.0009	0.0013	0.5
chr1	236914754	ACTN2	T	C	1	0.00119808	.	MedGen:C2677338,OMIM:612158|MedGen:CN169374	Dilated_cardiomyopathy_1AA|not_specified	Benign	0.0018	.	intronic	.	0.0014	0.0019	0.0013	-1
chr1	236917274	ACTN2	C	A	1	.	2.155	.	.	.	.	nonsynonymous_SNV	exonic	T	.	.	.	2
chr1	236917283	ACTN2	C	T	2	.	14.373	.	.	.	.	stopgain	exonic	.	.	.	.	6
chr1	236917318	ACTN2	T	G	2	.	.	.	.	.	.	synonymous_SNV	exonic	.	.	.	.	2
chr1	236917330	ACTN2	GTT	GTG	2	.	.	.	.	.	.	frameshift_deletion	exonic	.	.	.	.	2
chr1	236924298	ACTN2	T	C	1	0.0275559	.	MedGen:CN169374	not_specified	Benign	2.997e-05	.	intronic	.	.	8.056e-05	6.662e-05	-1
chr1	236925844	ACTN2	G	A	39	0.196086	.	Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2677338,OMIM:612158|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310	Hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1AA|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant	Benign/Likely_benign	0.1447	synonymous_SNV	exonic	.	0.1392	0.1441	0.1429	-1.5
chr1	237205892	RYR2	G	A	1	0.000998403	.	.	.	.	0.0018	.	intronic	.	0.0016	0.0015	0.0022	0
chr1	237494291	RYR2	C	T	2	.	.	.	.	.	6.004e-05	.	intronic	.	.	5.376e-05	.	2
chr1	237519223	RYR2	ATTTGTTTGTTTGT	ATTTGTTTGTTTGTTTGT	1	.	.	.	.	.	.	.	intronic	.	.	.	.	2
chr1	237527615	RYR2	G	A	2	0.00459265	.	.	.	.	0.0021	.	intronic	.	0.0009	0.0006	0.0007	0
chr1	237527741	RYR2	G	T	1	0.00239617	.	.	.	.	.	.	intronic	.	.	.	0	0
chr1	237540615	RYR2	A	C	53	0.362819	.	MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN239181	Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiomyopathy,_ARVC	Benign/Likely_benign	0.2482	.	intronic	.	0.2293	0.2366	0.2498	-1
chr1	237551376	RYR2	T	A	115	0.55651	.	MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN239181	Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiomyopathy,_ARVC	Benign/Likely_benign	0.5716	.	intronic	.	0.5597	0.5652	0.5458	-1
chr1	237551439	RYR2	G	C	1	.	3.463	.	.	.	.	nonsynonymous_SNV	exonic	T	.	.	.	2
chr1	237586384	RYR2	T	C	36	0.170128	.	MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN239181	Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiomyopathy,_ARVC	Benign/Likely_benign	0.1016	.	intronic	.	0.0985	0.0994	0.0891	-1
chr1	237608842	RYR2	C	T	5	0.00658946	.	MedGen:CN169374	not_specified	Benign	0.0077	.	intronic	.	0.0060	0.0084	0.0077	2
chr1	237617757	RYR2	C	T	123	0.535743	.	MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181	Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC	Benign/Likely_benign	0.5907	synonymous_SNV	exonic	.	0.6005	0.5953	0.5988	-1
chr1	237619874	RYR2	GATTTTTTTTTTTTTTAACG	GATTTTTTTTTTTTTTTAACG,TATTTTTTTTTTTTTTAACG	123	.	.	.	.	.	.	.	intronic	.	.	.	.	4
chr1	237619875	RYR2	ATTTTTTTTTTTTTTAACG	ATTTTTTTTTTTTTAACG,ATTTTTTTTTTTTTTTAACG,ATTTTTTTTTTTTAACG,TTTTTTTTTTTTTTTAACG	123	0.0115815	.	.	.	.	.	.	intronic	.	.	.	.	-1
chr1	237620034	RYR2	G	A	1	0.0599042	.	Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181	Cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC	Benign/Likely_benign	0.0009	synonymous_SNV	exonic	.	0.0012	0.0008	0.0012	-1
chr1	237620049	RYR2	T	C	113	0.53115	.	MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN239181	Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiomyopathy,_ARVC	Benign/Likely_benign	0.5449	.	intronic	.	0.5441	0.5458	0.5521	-1
chr1	237655173	RYR2	A	T	8	0.0215655	.	MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181	Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC	Benign/Likely_benign	0.0369	synonymous_SNV	exonic	.	0.0180	0.0244	0.0229	-1
chr1	237656289	RYR2	C	T	4	0.00219649	.	Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181	Cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC	Benign/Likely_benign	0.0117	synonymous_SNV	exonic	.	0.0083	0.0072	0.0052	-1
chr1	237664004	RYR2	C	G	3	0.00459265	.	Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN239181	Cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiomyopathy,_ARVC	Benign/Likely_benign	0.0124	.	intronic	.	0.0124	0.0122	0.0180	-1
chr1	237670140	RYR2	A	G	153	0.699481	.	MedGen:CN169374	not_specified	Benign	0.6691	.	intronic	.	0.6578	0.6648	0.6682	-1
chr1	237674973	RYR2	C	G	1	.	.	.	.	.	.	.	intronic	.	.	.	.	2
chr1	237675119	RYR2	C	A	2	.	.	.	.	.	.	.	intronic	.	.	.	.	2
chr1	237711797	RYR2	A	G	215	0.830272	.	MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181	Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC	Benign/Likely_benign	0.9594	synonymous_SNV	exonic	.	0.9585	0.9589	0.9567	-1
chr1	237730032	RYR2	A	G	1	0.000599042	6.511	EFO:EFO_0004278,MeSH:D016757,MedGen:C0085298,SNOMED_CT:95281009|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN517202	Sudden_cardiac_death|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|not_provided	Conflicting_interpretations_of_pathogenicity	0.0006	nonsynonymous_SNV	exonic	T	0.0008	0.0007	0.0008	1
chr1	237730059	RYR2	C	T	4	0.00239617	2.658	MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202	Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|not_provided	Benign/Likely_benign	0.0114	nonsynonymous_SNV	exonic	T	0.0130	0.0124	0.0149	-1
chr1	237753074	RYR2	ATTTTTTTTTTCTTCCCA	ATTTTTTTTTCTTCCCA	96	0.285144	.	Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:CN169374	Cardiomyopathy|not_specified	Benign/Likely_benign	0.4969	.	intronic	.	0.4430	0.4791	0.4511	-1
chr1	237755076	RYR2	A	G	7	0.0071885	1.769	MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181	Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC	Benign/Likely_benign	0.0242	nonsynonymous_SNV	exonic	T	0.0218	0.0234	0.0272	-1
chr1	237765297	RYR2	A	T	1	.	.	.	.	.	.	.	intronic	.	.	.	.	2
chr1	237765333	RYR2	G	A	1	0.00119808	.	MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181	Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC	Benign/Likely_benign	0.0021	synonymous_SNV	exonic	.	0.0016	0.0014	0.0018	0
chr1	237774051	RYR2	C	T	3	0.0638978	.	MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN239181	Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiomyopathy,_ARVC	Benign/Likely_benign	0.0016	.	intronic	.	0.0012	0.0006	0.0008	-1
chr1	237774057	RYR2	G	C	3	0.0171725	.	MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181	Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC	Benign/Likely_benign	0.0014	.	intronic	.	0.0007	0.0005	0.0006	-1
chr1	237777429	RYR2	T	C	1	.	.	MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736	Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype	Benign/Likely_benign	0.0002	synonymous_SNV	exonic	.	.	0.0001	0.0001	1
chr1	237777828	RYR2	A	G	1	0.0623003	.	MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181	Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC	Benign/Likely_benign	0.0007	synonymous_SNV	exonic	.	0.0013	0.0007	0.0003	-1
chr1	237778082	RYR2	G	A	5	0.00978435	-1.771	MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181	Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC	Benign/Likely_benign	0.0237	nonsynonymous_SNV	exonic	T	0.0234	0.0264	0.0280	-1
chr1	237778084	RYR2	G	A	8	0.076278	0.814	Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181	Cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC	Benign/Likely_benign	0.0307	nonsynonymous_SNV	exonic	T	0.0311	0.0308	0.0263	-1
chr1	237780626	RYR2	G	A	1	.	4.322	MedGen:C1631597,Orphanet:ORPHA3286	Catecholaminergic_polymorphic_ventricular_tachycardia	Uncertain_significance	9.761e-05	nonsynonymous_SNV	exonic	T	.	3.601e-05	0.0002	2
chr1	237780671	RYR2	C	T	1	.	3.786	.	.	.	3.012e-05	nonsynonymous_SNV	exonic	T	0.0001	8.975e-06	.	2
chr1	237780695	RYR2	T	G	1	.	4.681	MedGen:CN169374	not_specified	Uncertain_significance	6.004e-05	nonsynonymous_SNV	exonic	T	.	5.385e-05	.	2
chr1	237787132	RYR2	A	T	1	.	2.144	.	.	.	.	nonsynonymous_SNV	exonic	T	.	.	.	2
chr1	237787196	RYR2	TTATTAATTGT	TT	1	.	.	.	.	.	.	.	intronic	.	.	.	.	2
chr1	237794696	RYR2	C	G	1	.	.	.	.	.	.	.	intronic	.	.	.	.	2
chr1	237801770	RYR2	T	C	230	0.954872	.	MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181	Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC	Benign/Likely_benign	0.9997	synonymous_SNV	exonic	.	0.9994	0.9998	0.9999	-1
chr1	237801796	RYR2	G	A	1	0.0145767	.	MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181	Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC	Benign/Likely_benign	0.0007	.	intronic	.	0.0007	0.0007	0.0003	-1
chr1	237804317	RYR2	G	T	1	.	.	.	.	.	1.999e-05	.	intronic	.	.	0	.	2
chr1	237811766	RYR2	C	T	3	0.00159744	.	Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181	Cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC	Benign/Likely_benign	0.0081	synonymous_SNV	exonic	.	0.0067	0.0060	0.0065	1
chr1	237811889	RYR2	C	T	1	0.00139776	.	MedGen:C0003811,OMIM:115000|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN239181	Cardiac_arrhythmia|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiomyopathy,_ARVC	Benign/Likely_benign	0.0061	synonymous_SNV	exonic	.	0.0052	0.0045	0.0057	0
chr1	237814783	RYR2	C	T	98	0.554912	.	MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181	Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC	Benign/Likely_benign	0.4739	synonymous_SNV	exonic	.	0.4361	0.4232	0.4477	-1
chr1	237823256	RYR2	A	C	15	0.0407348	.	MedGen:CN169374	not_specified	Benign	0.0776	.	intronic	.	0.0530	0.0532	0.0522	-1
chr1	237829825	RYR2	C	T	1	.	2.980	.	.	.	3.657e-05	nonsynonymous_SNV	exonic	D	.	3.612e-05	0	3
chr1	237829952	RYR2	G	A	1	0.00119808	.	.	.	.	.	.	intronic	.	0.0041	.	0.0023	0
chr1	237838001	RYR2	G	A	1	0.00179712	.	.	.	.	0.0142	.	intronic	.	0.0079	0.0103	0.0134	-1
chr1	237841390	RYR2	A	G	70	0.0992412	2.365	Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181	Cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC	Benign/Likely_benign	0.3459	nonsynonymous_SNV	exonic	T	0.3042	0.3066	0.3170	-1
chr1	237843729	RYR2	G	C	1	.	.	.	.	.	0.0002	.	intronic	.	0.0001	0.0002	0	1
chr1	237850716	RYR2	C	T	1	0.00139776	.	.	.	.	0.0084	.	intronic	.	0.0064	0.0050	0.0042	0
chr1	237850816	RYR2	C	T	1	0.000399361	.	MedGen:CN169374	not_specified	Benign	0.0025	.	intronic	.	0.0024	0.0023	0.0020	0
chr1	237850825	RYR2	A	T	1	.	.	.	.	.	0.0014	.	intronic	.	.	0.0009	0.0006	0
chr1	237850826	RYR2	TAC	TAAC	2	0.00119808	.	.	.	.	0.0038	.	intronic	.	0.0032	0.0032	0.0033	0
chr1	237863717	RYR2	CT	CG	20	.	.	.	.	.	.	frameshift_deletion	exonic	.	.	.	.	4
chr1	237863718	RYR2	T	G	210	0.969249	.	MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181	Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC	Benign/Likely_benign	0.9994	synonymous_SNV	exonic	.	0.9995	0.9994	0.9993	-1
chr1	237872887	RYR2	T	C	15	0.00938498	.	MedGen:C0003811,OMIM:115000|MedGen:CN169374	Cardiac_arrhythmia|not_specified	Uncertain_significance	0.0186	.	intronic	.	0.0166	0.0153	0.0114	-1
chr1	237875040	RYR2	C	T	1	0.000599042	.	MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN239181	Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiomyopathy,_ARVC	Conflicting_interpretations_of_pathogenicity	0.0014	.	intronic	.	0.0004	0.0007	6.661e-05	0
chr1	237875068	RYR2	C	T	2	0.00339457	.	Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736	Cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype	Benign/Likely_benign	0.0054	synonymous_SNV	exonic	.	0.0033	0.0039	0.0030	0
chr1	237881770	RYR2	C	T	230	0.960463	.	MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181	Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC	Benign/Likely_benign	0.9995	synonymous_SNV	exonic	.	0.9995	0.9995	0.9995	-1
chr1	237886514	RYR2	G	A	1	0.00159744	.	MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN239181	Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiomyopathy,_ARVC	Conflicting_interpretations_of_pathogenicity	0.0003	synonymous_SNV	exonic	.	0.0006	0.0003	0.0001	0
chr1	237890437	RYR2	C	T	230	0.960264	.	MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181	Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC	Benign/Likely_benign	0.9994	synonymous_SNV	exonic	.	0.9995	0.9995	0.9995	-1
chr1	237893674	RYR2	CT	TT	230	0.985224	.	MedGen:CN169374	not_specified	Benign	0.9999	.	intronic	.	0.9998	0.9998	0.9998	-1
chr1	237905568	RYR2	TCCTTTTTTTTTTTTTTTAAATATACA	TCCCTTTTTTTTTTTTTTTAAATATACA,TCCCTTTTTTTTTTTTTTAAATATACA,TCCTTTTTTTTTTTTTTTTAAATATACA,TCCTTTTTTTTTTTTTTAAATATACA	230	.	.	MedGen:CN169374	not_specified	Likely_benign	0.2724	.	intronic\x3bintronic\x3bintronic	.	.	.	0.0087	-1
chr1	237905569	RYR2	CCTTTTTTTTTTTTTTTAAATATACA	CCTTTTTTTTTTTTTTAAATATACA,ACTTTTTTTTTTTTTTTAAATATACA,TCTTTTTTTTTTTTTTTAAATATACA	230	.	.	.	.	.	.	.	intronic	.	.	.	.	4
chr1	237905570	RYR2	CTTTTTTTTTTTTTTTA	CTTTTTTTTTTTTTTTTA,CTTTTTTTTTTTTTTA	230	.	.	MedGen:CN169374	not_specified	Likely_benign	0.2724	.	intronic\x3bintronic\x3bintronic	.	.	.	0.0087	-1
chr1	237905571	RYR2	T	C	7	.	.	MedGen:CN169374	not_specified	Benign	0.1644	.	intronic\x3bintronic	.	.	0.0948	0.0051	-1
chr1	237919725	RYR2	T	G	2	0.00239617	.	.	.	.	0.0065	.	intronic	.	0.0091	0.0076	0.0082	0
chr1	237923053	RYR2	C	T	158	0.761581	.	MedGen:CN169374	not_specified	Benign	0.6849	.	intronic	.	0.6923	0.6833	0.6808	-1
chr1	237923081	RYR2	G	A	1	.	4.805	.	.	.	.	nonsynonymous_SNV	exonic	D	.	.	.	3
chr1	237924352	RYR2	G	A	2	.	.	.	.	.	0	.	intronic	.	.	3.068e-05	6.661e-05	2
chr1	237934206	RYR2	C	T	1	0.0061901	.	MedGen:C0003811,OMIM:115000|MedGen:CN169374	Cardiac_arrhythmia|not_specified	Conflicting_interpretations_of_pathogenicity	0.0229	.	intronic	.	0.0227	0.0285	0.0295	-1
chr1	237941945	RYR2	G	A	19	0.0445288	.	MedGen:CN169374	not_specified	Likely_benign	0.0427	.	intronic	.	0.0458	0.0452	0.0483	-1
chr1	237942082	RYR2	AACTGC	AC	14	0.00978435	.	MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN239181	Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiomyopathy,_ARVC	Benign/Likely_benign	0.0141	.	intronic	.	0.0158	0.0153	0.0123	-1
chr1	237946964	RYR2	T	C	67	0.414736	.	MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN239181	Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiomyopathy,_ARVC	Benign/Likely_benign	0.4541	.	intronic	.	0.3387	0.3349	0.3411	-1
chr1	237947000	RYR2	C	T	14	0.0123802	.	MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181	Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC	Benign/Likely_benign	0.0170	synonymous_SNV	exonic	.	0.0173	0.0154	0.0130	-1
chr1	237947244	RYR2	C	A	1	.	-0.415	.	.	.	4.639e-05	nonsynonymous_SNV	exonic	T	.	3.625e-05	.	2
chr1	237947781	RYR2	C	T	1	.	12.220	.	.	.	3.074e-05	stopgain	exonic	.	0.0001	9.073e-06	.	6
chr1	237948286	RYR2	A	G	8	0.0107827	0.618	Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN239181	Cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiomyopathy,_ARVC	Benign/Likely_benign	0.0147	.	intronic	.	0.0092	0.0107	0.0080	-1
chr1	237951451	RYR2	A	G	122	0.636581	.	MedGen:CN169374	not_specified	Benign	0.5490	.	intronic	.	0.5443	0.5343	0.5375	-1
chr1	237957146	RYR2	G	A	143	0.734026	.	MedGen:CN169374	not_specified	Benign	0.6639	.	intronic	.	0.6579	0.6539	0.6755	-1
chr1	237957161	RYR2	A	G	146	0.757588	.	MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN239181	Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiomyopathy,_ARVC	Benign/Likely_benign	0.6873	.	intronic	.	0.6785	0.6791	0.6941	-1
chr1	237957309	RYR2	A	C	137	0.750799	.	MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN239181	Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiomyopathy,_ARVC	Benign/Likely_benign	0.6717	.	intronic	.	0.6684	0.6715	0.6851	-1
chr1	237965123	RYR2	A	G	1	0.000199681	.	.	.	.	1.633e-05	.	intronic	.	.	9.555e-06	0	1
chr1	237965131	RYR2	GCATTTTTTTTTTTTGTCATTG	ACATTTTTTTTTTTTGTCATTG,ACATTTTTTTTTTTTTGTCATTG,ACATTTTTTTTTTTTTTGTCATTG,GCATTTTTTTTTTTGTCATTG,TCATTTTTTTTTTTTGTCATTG	1	.	.	.	.	.	.	.	intronic	.	.	.	.	2
chr1	237965133	RYR2	ATTTTTTTTTTTTGTCATTG	ATTTTTTTTTTTTTGTCATTG,ATTTTTTTTTTTGTCATTG	1	.	.	MedGen:CN169374	not_specified	Benign/Likely_benign	0.1446	.	intronic\x3bintronic	.	.	0.1302	0.0033	-1
chr1	237972189	RYR2	A	G	6	0.0091853	.	MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN239181	Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiomyopathy,_ARVC	Benign/Likely_benign	0.0087	.	intronic	.	0.0078	0.0090	0.0074	2
chr1	237991767	RYR2	T	C	5	0.00938498	.	.	.	.	0.0111	.	intronic	.	0.0072	0.0091	0.0082	-1
chr1	237993798	RYR2	C	T	4	0.00159744	.	.	.	.	0.0040	.	intronic	.	0.0037	0.0033	0.0029	1
chr1	237993877	RYR2	G	C	1	.	.	MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181	Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC	Conflicting_interpretations_of_pathogenicity	0.0001	synonymous_SNV	exonic	.	.	0.0001	0.0001	2
chr1	237993968	RYR2	T	C	1	0.00599042	.	.	.	.	0.0005	.	intronic	.	0.0006	0.0004	6.66e-05	0
chr1	237995837	RYR2	C	G	3	0.00179712	.	Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN239181|MedGen:CN517202	Cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiomyopathy,_ARVC|not_provided	Benign/Likely_benign	0.0083	.	intronic	.	0.0107	0.0087	0.0089	-1
chr10	18430167	CACNB2	G	C	1	0.00798722	.	.	.	.	0.0366	.	intronic	.	0.0274	0.0172	0.0139	-1
chr10	18430220	CACNB2	G	A	36	0.107628	.	.	.	.	.	.	intronic	.	.	.	0.1135	-1
chr10	18439810	CACNB2	AGTCA	TGTCA,TTTTT	36	.	.	.	.	.	.	frameshift_substitution	exonic	.	.	.	.	4
chr10	18439811	CACNB2	G	T	5	.	4.792	MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005	Brugada_syndrome	Uncertain_significance	.	.	splicing	.	.	0.0004	0.0024	7
chr10	18439813	CACNB2	CA	TA,AA,TT	5	.	.	.	.	.	.	nonframeshift_substitution	exonic	.	.	.	.	4
chr10	18439925	CACNB2	GT	GC,TT	5	.	.	.	.	.	.	.	intronic	.	.	.	.	4
chr10	18439926	CACNB2	T	C	17	0.0632987	.	.	.	.	0.1292	.	intronic	.	0.1213	0.1275	0.1093	-1
chr10	18629941	CACNB2	G	A	2	0.000798722	.	.	.	.	0.0044	.	intronic	.	0.0057	0.0054	0.0045	0
chr10	18789724	CACNB2	T	G	85	0.229832	.	MedGen:C2678477,OMIM:611876|MedGen:CN169374	Brugada_syndrome_4|not_specified	Benign	0.3240	.	intronic	.	0.3157	0.3230	0.3179	-1
chr10	18795447	CACNB2	G	C	1	0.00179712	2.683	MedGen:C2678477,OMIM:611876|MedGen:C3150852,OMIM:613601|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202	Brugada_syndrome_4|Early_repolarization_associated_with_ventricular_fibrillation|not_specified|Cardiovascular_phenotype|not_provided	Conflicting_interpretations_of_pathogenicity	0.0013	nonsynonymous_SNV	exonic	T	0.0012	0.0014	0.0009	0
chr10	18816565	CACNB2	G	A	6	0.00359425	.	MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C2678477,OMIM:611876|MedGen:CN230736|MedGen:CN517202	Brugada_syndrome|Brugada_syndrome_4|Cardiovascular_phenotype|not_provided	Conflicting_interpretations_of_pathogenicity	0.0112	synonymous_SNV	exonic	.	0.0124	0.0116	0.0112	-1
chr10	18816633	CACNB2	C	T	27	0.239417	.	MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374	Brugada_syndrome|not_specified	Likely_benign	0.1597	.	intronic	.	0.1603	0.1604	0.1784	-1
chr10	18828191	CACNB2	C	T	2	0.00279553	2.546	MedGen:C2678477,OMIM:611876|MedGen:CN230736	Brugada_syndrome_4|Cardiovascular_phenotype	Benign/Likely_benign	0.0063	synonymous_SNV	exonic	.	0.0083	0.0076	0.0084	0
chr10	18828371	CACNB2	C	T	28	0.23722	.	MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736	Brugada_syndrome|not_specified|Cardiovascular_phenotype	Benign/Likely_benign	0.1593	synonymous_SNV	exonic	.	0.1615	0.1600	0.1784	-1
chr10	18828426	CACNB2	C	G	1	.	5.821	.	.	.	.	nonsynonymous_SNV	exonic	D	.	0	.	4
chr10	18828455	CACNB2	C	T	1	0.00778754	.	MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C2678477,OMIM:611876|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202	Brugada_syndrome|Brugada_syndrome_4|not_specified|Cardiovascular_phenotype|not_provided	Benign/Likely_benign	0.0002	synonymous_SNV	exonic	.	0.0002	9.858e-05	6.68e-05	0
chr10	18828630	CACNB2	AGGGAT	AGGGAG,TGGGAT,CGGGAT	1	.	.	.	.	.	.	synonymous_SNV	exonic	.	.	.	.	2
chr10	18828635	CACNB2	T	G	45	0.0970447	2.791	MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736	Brugada_syndrome|not_specified|Cardiovascular_phenotype	Benign/Likely_benign	0.1826	nonsynonymous_SNV	exonic	T	0.1729	0.1809	0.1766	-1
chr10	18828661	CACNB2	CCG	CCT	6	.	.	MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005	Brugada_syndrome	Uncertain_significance	3.196e-05	.	UTR3\x3bUTR3	.	.	0	.	4
chr10	18828662	CACNB2	CG	CT	4	.	.	MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005	Brugada_syndrome	Uncertain_significance	3.196e-05	.	UTR3\x3bUTR3	.	.	0	.	3
chr10	18828663	CACNB2	G	T	107	0.774361	.	MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C2678477,OMIM:611876|MedGen:CN169374	Brugada_syndrome|Brugada_syndrome_4|not_specified	Benign/Likely_benign	0.7877	.	UTR3	.	.	0.7836	0.7942	-1
chr10	18828666	CACNB2	TGTGTTTTTTTTTTTTTTTTTTTGAAGTC	GGTGTTTTTTTTTTTTTTTTTTGAAGTC	2	.	.	.	.	.	.	.	UTR3	.	.	.	.	2
chr10	18828669	CACNB2	GTTTTTTTTTTTTTTTTTTTG	GTTTTTTTTTTTTTTTTG,GCTTTTTTTTTTTTTTTTTTG	2	0.0756789	.	MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005	Brugada_syndrome	Likely_benign	0.2713	.	UTR3\x3bUTR3	.	.	0.0916	0.1957	-1
chr10	18828670	CACNB2	T	C	2	0.0756789	.	MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005	Brugada_syndrome	Likely_benign	0.2713	.	UTR3\x3bUTR3	.	.	0.0916	0.1957	-1
chr10	21074724	NEBL	T	C	22	0.0666933	.	MedGen:CN169374|MedGen:CN230736	not_specified|Cardiovascular_phenotype	Benign	0.0737	synonymous_SNV	exonic	.	0.0762	0.0734	0.0776	-1
chr10	21076100	NEBL	C	A	3	0.221845	.	.	.	.	0.0298	.	intronic	.	0.0238	0.0213	0.0177	-1
chr10	21101816	NEBL	G	A	1	.	.	.	.	.	3.001e-05	synonymous_SNV	exonic	.	.	1.793e-05	.	2
chr10	21106525	NEBL	A	G	1	0.000798722	.	MedGen:CN169374	not_specified	Conflicting_interpretations_of_pathogenicity	0.0002	.	intronic	.	0.0002	0.0003	6.66e-05	0
chr10	21108377	NEBL	C	T	44	0.183706	.	MedGen:CN169374|MedGen:CN230736	not_specified|Cardiovascular_phenotype	Benign	0.2958	synonymous_SNV	exonic	.	0.2952	0.2986	0.3057	-1
chr10	21112111	NEBL	A	T	64	0.302117	.	.	.	.	0.3146	.	intronic	.	0.2187	0.2795	0.2738	-1
chr10	21112137	NEBL	A	T	5	0.124601	2.904	MedGen:CN169374|MedGen:CN230736	not_specified|Cardiovascular_phenotype	Benign	0.0231	nonsynonymous_SNV	exonic	T	0.0224	0.0216	0.0187	-1
chr10	21115347	NEBL	A	G	5	0.00559105	.	.	.	.	0.0126	.	intronic	.	0.0131	0.0121	0.0096	-1
chr10	21120116	NEBL	A	G	102	0.46905	.	MedGen:CN169374	not_specified	Benign	0.3503	.	intronic	.	0.3458	0.3524	0.3394	-1
chr10	21134282	NEBL	C	G	39	0.0385383	5.403	MedGen:CN169374|MedGen:CN230736	not_specified|Cardiovascular_phenotype	Benign	0.0832	nonsynonymous_SNV	exonic	T	0.0828	0.0808	0.0742	0
chr10	21139389	NEBL	T	C	39	0.038738	1.032	MedGen:CN169374|MedGen:CN230736	not_specified|Cardiovascular_phenotype	Benign	0.0833	nonsynonymous_SNV	exonic	T	0.0834	0.0811	0.0743	-1
chr10	21141440	NEBL	AGGGAGGGT	AGGAGGGT	62	0.252796	.	.	.	.	0.2575	.	intronic	.	0.2555	0.2637	0.2586	-1
chr10	21141469	NEBL	T	C	230	0.952476	.	MedGen:CN169374|MedGen:CN230736	not_specified|Cardiovascular_phenotype	Benign	0.9993	.	intronic	.	0.9994	0.9994	0.9997	-1
chr10	21147144	NEBL	G	A	5	0.0543131	.	.	.	.	0.0073	.	intronic	.	0.0052	0.0064	0.0065	-1
chr10	21157673	NEBL	C	T,A	5	.	10.623	.	.	.	.	stopgain	exonic	.	.	.	.	8
chr10	21169720	NEBL	T	C	1	0.00179712	.	EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:CN169374|MedGen:CN230736	Primary_dilated_cardiomyopathy|not_specified|Cardiovascular_phenotype	Conflicting_interpretations_of_pathogenicity	0.0045	.	intronic	.	0.0040	0.0047	0.0052	0.5
chr10	21177128	NEBL	G	C	3	0.000599042	9.147	EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN169374	Primary_dilated_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|not_specified	Conflicting_interpretations_of_pathogenicity	0.0021	stopgain	exonic	.	0.0017	0.0023	0.0027	5.5
chr10	21177143	NEBL	GAAAAAAAAACAGGAAAAAAATAAATAAATAAACTT	GAAAAAAAAACAGGAAAAAATAAATAAATAAACTT,TAAAAAAAAACAGGAAAAAAATAAATAAATAAACTT	3	.	.	.	.	.	.	.	intronic	.	.	.	.	3
chr10	21177156	NEBL	GAAAAAAATAAATAAATAAACTT	GAAAAAATAAATAAATAAACTT	126	0.540535	.	.	.	.	0.6507	.	intronic\x3bintronic	.	0.6444	0.6390	0.6549	-1
chr10	21178792	NEBL	G	A	1	.	.	EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:CN169374	Primary_dilated_cardiomyopathy|not_specified	Likely_benign	0.0003	synonymous_SNV	exonic	.	.	0.0003	6.665e-05	0.5
chr10	21178889	NEBL	G	T	3	0.00119808	.	MedGen:CN169374	not_specified	Benign/Likely_benign	0.0047	.	intronic	.	0.0070	0.0055	0.0044	1
chr10	21185931	NEBL	A	G	1	0.00119808	.	EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:CN169374	Primary_dilated_cardiomyopathy|not_specified	Benign	0.0013	synonymous_SNV	exonic	.	0.0008	0.0015	0.0015	-1
chr10	21461410	NEBL	GAAAAAAAAAAAAAACATTTAAAAATACAG	GAAAAAAAAAAAAACATTTAAAAATACAG,AAAAAAAAAAAAAAACATTTAAAAATACAG,TAAAAAAAAAAAAAACATTTAAAAATACAG,GAAAAAAAAAAAAAAACATTTAAAAATACAG	1	0.353634	.	MedGen:CN169374	not_specified	not_provided	0.2116	.	intronic	.	.	0.2908	0.2007	-1
chr10	21462769	NEBL	G	A	1	0.0163738	.	MedGen:CN169374	not_specified	Benign	0.0044	.	UTR5	.	0.0052	0.0047	0.0033	-1
chr10	21462805	NEBL	C	A	1	.	.	.	.	.	5.427e-05	.	UTR5	.	.	5.957e-05	0.0001	2
chr10	67726514	CTNNA3	A	C	67	0.352636	.	MedGen:CN169374	not_specified	Benign	0.3036	.	intronic	.	0.3110	0.3028	0.3127	-1
chr10	67862992	CTNNA3	C	T	1	0.000399361	6.023	MedGen:C3810138,OMIM:615616|MedGen:CN517202	Arrhythmogenic_right_ventricular_dysplasia,_familial,_13|not_provided	Conflicting_interpretations_of_pathogenicity	0.0008	nonsynonymous_SNV	exonic	T	0.0007	0.0010	0.0007	1
chr10	68040240	CTNNA3	G	T	10	0.0690895	.	MedGen:C3810138,OMIM:615616|MedGen:CN169374	Arrhythmogenic_right_ventricular_dysplasia,_familial,_13|not_specified	Benign	0.0210	synonymous_SNV	exonic	.	0.0205	0.0181	0.0161	-1
chr10	68040325	CTNNA3	C	T	97	0.485024	0.202	.	.	.	0.3747	nonsynonymous_SNV	exonic	T	0.3621	0.3655	0.3892	-1
chr10	68040380	CTNNA3	C	G	2	.	5.286	MedGen:C3810138,OMIM:615616	Arrhythmogenic_right_ventricular_dysplasia,_familial,_13	Uncertain_significance	6.056e-05	.	splicing	.	0.0001	4.555e-05	6.675e-05	6
chr10	68138902	CTNNA3	T	C	1	.	.	.	.	.	0.0003	.	intronic	.	0.0002	0.0002	0.0001	1
chr10	68139039	CTNNA3	G	A	2	0.00499201	4.125	MedGen:C3810138,OMIM:615616	Arrhythmogenic_right_ventricular_dysplasia,_familial,_13	Benign	0.0165	nonsynonymous_SNV	exonic	T	0.0151	0.0133	0.0139	-1
chr10	68280359	CTNNA3	A	G	1	0.0401358	.	.	.	.	0.0002	.	intronic	.	.	0.0002	0.0005	-1
chr10	68280453	CTNNA3	T	A	2	0.000599042	1.014	MedGen:C3810138,OMIM:615616	Arrhythmogenic_right_ventricular_dysplasia,_familial,_13	Likely_benign	0.0013	nonsynonymous_SNV	exonic	T	0.0015	0.0018	0.0015	0
chr10	68979348	CTNNA3	T	C	3	0.0323482	.	.	.	.	0.0011	.	intronic	.	0.0010	0.0011	0.0009	-1
chr10	68979411	CTNNA3	G	A	1	.	-0.583	.	.	.	.	nonsynonymous_SNV	exonic	T	.	8.958e-06	.	2
chr10	69281585	CTNNA3	A	C	21	0.187101	.	.	.	.	0.1131	.	intronic	.	0.1113	0.1108	0.1357	-1
chr10	69281701	CTNNA3	A	T	10	0.0113818	2.461	MedGen:C3810138,OMIM:615616	Arrhythmogenic_right_ventricular_dysplasia,_familial,_13	Benign	0.0252	nonsynonymous_SNV	exonic	T	0.0253	0.0247	0.0270	-1
chr10	69281732	CTNNA3	A	G	24	0.0593051	.	MedGen:CN169374	not_specified	Benign	0.0535	.	intronic	.	0.0592	0.0553	0.0539	-1
chr10	69299372	CTNNA3	T	G	7	0.0147764	.	MedGen:C3810138,OMIM:615616	Arrhythmogenic_right_ventricular_dysplasia,_familial,_13	Benign	0.0183	synonymous_SNV	exonic	.	0.0226	0.0199	0.0176	-1
chr10	69299446	CTNNA3	T	A	37	0.195487	.	MedGen:CN169374	not_specified	Benign	0.1056	.	intronic	.	0.1024	0.1047	0.0960	-1
chr10	69366602	CTNNA3	T	C	68	0.529952	.	MedGen:CN169374	not_specified	Benign	0.2901	.	intronic	.	0.2893	0.2871	0.2905	-1
chr10	69881837	MYPN	T	C	1	.	.	.	.	.	2.999e-05	synonymous_SNV	exonic	.	.	2.688e-05	.	2
chr10	69896557	MYPN	G	C	1	0.00139776	.	.	.	.	.	.	intronic	.	.	.	0	0
chr10	69905257	MYPN	C	T	1	0.000998403	.	MedGen:C3714995,OMIM:615248|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202	Dilated_cardiomyopathy_1KK|not_specified|Cardiovascular_phenotype|not_provided	Benign/Likely_benign	0.0023	synonymous_SNV	exonic	.	0.0035	0.0028	0.0024	-0.5
chr10	69905300	MYPN	G	A	29	0.295927	.	MedGen:C3714995,OMIM:615248|MedGen:CN169374	Dilated_cardiomyopathy_1KK|not_specified	Benign	0.0783	.	intronic	.	0.0807	0.0778	0.0747	-2
chr10	69908113	MYPN	C	T	6	0.00339457	.	MedGen:C3714995,OMIM:615248|MedGen:CN169374|MedGen:CN230736	Dilated_cardiomyopathy_1KK|not_specified|Cardiovascular_phenotype	Benign/Likely_benign	0.0073	synonymous_SNV	exonic	.	0.0087	0.0078	0.0068	1.5
chr10	69908157	MYPN	T	C	7	0.120607	0.535	MedGen:C3714995,OMIM:615248|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202	Dilated_cardiomyopathy_1KK|not_specified|Cardiovascular_phenotype|not_provided	Benign	0.0155	nonsynonymous_SNV	exonic	T	0.0147	0.0160	0.0178	-2
chr10	69908241	MYPN	G	A	20	0.121605	.	MedGen:C3714995,OMIM:615248|MedGen:CN169374	Dilated_cardiomyopathy_1KK|not_specified	Benign	0.0618	.	intronic	.	0.0643	0.0608	0.0557	-2
chr10	69909802	MYPN	G	A	30	0.0842652	.	MedGen:CN169374|MedGen:CN230736|MedGen:CN517202	not_specified|Cardiovascular_phenotype|not_provided	Benign	0.0880	synonymous_SNV	exonic	.	0.0826	0.0854	0.0795	-1
chr10	69909844	MYPN	C	A	2	0.00199681	.	MedGen:C3714995,OMIM:615248|MedGen:CN169374|MedGen:CN230736	Dilated_cardiomyopathy_1KK|not_specified|Cardiovascular_phenotype	Benign/Likely_benign	0.0010	synonymous_SNV	exonic	.	0.0008	0.0007	0.0006	-0.5
chr10	69909899	MYPN	G	A	31	0.14996	.	.	.	.	0.0893	.	intronic	.	0.0826	0.0860	0.0803	-1
chr10	69921472	MYPN	T	A	1	0.000399361	.	MedGen:C3714995,OMIM:615248|MedGen:CN169374	Dilated_cardiomyopathy_1KK|not_specified	Benign/Likely_benign	0.0010	.	intronic	.	0.0007	0.0007	0.0002	-0.5
chr10	69925596	MYPN	G	C	1	0.00199681	.	MedGen:C3714995,OMIM:615248	Dilated_cardiomyopathy_1KK	Benign	0.0119	.	intronic	.	0.0095	0.0116	0.0118	-2
chr10	69926097	MYPN	TA	CA	143	0.482628	.	MedGen:CN169374|MedGen:CN230736|MedGen:CN517202	not_specified|Cardiovascular_phenotype|not_provided	Benign	0.6868	synonymous_SNV	exonic	.	0.6960	0.6904	0.7102	-1
chr10	69926319	MYPN	C	A	46	0.116613	.	MedGen:CN169374|MedGen:CN230736|MedGen:CN517202	not_specified|Cardiovascular_phenotype|not_provided	Benign	0.1679	synonymous_SNV	exonic	.	0.1735	0.1614	0.1621	-1
chr10	69926324	MYPN	CC	CT	2	.	.	.	.	.	.	frameshift_deletion	exonic	.	.	.	.	2
chr10	69926325	MYPN	C	T	49	0.157748	.	MedGen:CN169374|MedGen:CN230736|MedGen:CN517202	not_specified|Cardiovascular_phenotype|not_provided	Benign	0.1823	synonymous_SNV	exonic	.	0.1866	0.1760	0.1790	-1
chr10	69926334	MYPN	C	G	92	0.316494	0.756	MedGen:CN169374|MedGen:CN230736|MedGen:CN517202	not_specified|Cardiovascular_phenotype|not_provided	Benign	0.5038	nonsynonymous_SNV	exonic	T	0.5095	0.5137	0.5306	-1
chr10	69926385	MYPN	C	T	1	0.000599042	.	MedGen:C3714995,OMIM:615248|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202	Dilated_cardiomyopathy_1KK|not_specified|Cardiovascular_phenotype|not_provided	Benign/Likely_benign	0.0012	synonymous_SNV	exonic	.	0.0007	0.0010	0.0011	-0.5
chr10	69933890	MYPN	C	G	1	.	-0.209	.	.	.	.	nonsynonymous_SNV	exonic	T	.	.	.	2
chr10	69933921	MYPN	G	A	90	0.335863	0.657	MedGen:CN169374|MedGen:CN230736|MedGen:CN517202	not_specified|Cardiovascular_phenotype|not_provided	Benign	0.4801	nonsynonymous_SNV	exonic	T	0.48	0.4878	0.5016	-1
chr10	69933969	MYPN	G	A	90	0.32508	1.882	MedGen:CN169374|MedGen:CN230736|MedGen:CN517202	not_specified|Cardiovascular_phenotype|not_provided	Benign	0.4795	nonsynonymous_SNV	exonic	T	0.4798	0.4873	0.5011	-1
chr10	69934012	MYPN	C	A	5	0.0429313	.	MedGen:C3714995,OMIM:615248|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202	Dilated_cardiomyopathy_1KK|not_specified|Cardiovascular_phenotype|not_provided	Benign	0.0144	synonymous_SNV	exonic	.	0.0123	0.0143	0.0164	-2
chr10	69934258	MYPN	C	G	106	0.471446	2.029	MedGen:CN169374|MedGen:CN230736|MedGen:CN517202	not_specified|Cardiovascular_phenotype|not_provided	Benign	0.5520	nonsynonymous_SNV	exonic	T	0.5509	0.5577	0.5682	-1
chr10	69934259	MYPN	G	A	4	0.0103834	2.875	MedGen:C3714995,OMIM:615248|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202	Dilated_cardiomyopathy_1KK|not_specified|Cardiovascular_phenotype|not_provided	Benign	0.0278	nonsynonymous_SNV	exonic	T	0.035	0.0292	0.0245	-2
chr10	69935235	MYPN	T	C	230	0.982428	.	MedGen:C3714995,OMIM:615248|MedGen:CN169374	Dilated_cardiomyopathy_1KK|not_specified	Benign	0.9996	.	intronic	.	0.9990	0.9997	0.9997	-2
chr10	69948844	MYPN	T	C	230	0.984625	.	MedGen:CN169374|MedGen:CN517202	not_specified|not_provided	Benign	0.9997	synonymous_SNV	exonic	.	0.9994	0.9999	0.9998	-1
chr10	69948892	MYPN	G	C	2	0.0141773	.	MedGen:C3714995,OMIM:615248|MedGen:CN169374	Dilated_cardiomyopathy_1KK|not_specified	Benign	0.0024	.	intronic	.	0.0019	0.0022	0.0020	-2
chr10	69957222	MYPN	G	A	1	.	8.057	MedGen:C3714995,OMIM:615248	Dilated_cardiomyopathy_1KK	Uncertain_significance	1.5e-05	nonsynonymous_SNV	exonic	T	.	5.375e-05	0.0001	3
chr10	69959174	MYPN	C	T	3	0.00259585	5.849	EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:C3714995,OMIM:615248|MedGen:CN169374|MedGen:CN169882|MedGen:CN230736|MedGen:CN517202	Primary_dilated_cardiomyopathy|Dilated_cardiomyopathy_1KK|not_specified|Familial_hypertrophic_cardiomyopathy_22|Cardiovascular_phenotype|not_provided	Conflicting_interpretations_of_pathogenicity	0.0033	nonsynonymous_SNV	exonic	T	0.0024	0.0027	0.0022	2.5
chr10	69959241	MYPN	CC	CA	2	.	.	.	.	.	.	frameshift_deletion	exonic	.	.	.	.	2
chr10	69959242	MYPN	C	A	92	0.340256	6.536	MedGen:C3714995,OMIM:615248|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202	Dilated_cardiomyopathy_1KK|not_specified|Cardiovascular_phenotype|not_provided	Benign	0.4806	nonsynonymous_SNV	exonic	T	0.4786	0.4879	0.5020	-1
chr10	69959345	MYPN	GCTGGGAC	GC	94	.	.	.	.	.	.	.	intronic	.	.	.	.	4
chr10	75830501	VCL	C	T	1	.	12.748	MedGen:CN169374	not_specified	Uncertain_significance	1.498e-05	stopgain	exonic	.	.	1.793e-05	.	6
chr10	75849851	VCL	G	A	1	.	3.794	MedGen:C1969639,OMIM:611407	Dilated_cardiomyopathy_1W	Uncertain_significance	1.499e-05	nonsynonymous_SNV	exonic	T	.	4.48e-05	6.661e-05	2
chr10	75849921	VCL	T	C	3	0.00199681	.	MedGen:C1969639,OMIM:611407|MedGen:CN169374|MedGen:CN230736	Dilated_cardiomyopathy_1W|not_specified|Cardiovascular_phenotype	Benign	0.0062	synonymous_SNV	exonic	.	0.0056	0.0062	0.0047	0
chr10	75854083	VCL	C	T	6	0.0696885	.	MedGen:C1969639,OMIM:611407|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310	Dilated_cardiomyopathy_1W|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant	Benign/Likely_benign	0.0060	synonymous_SNV	exonic	.	0.0062	0.0052	0.0037	-1.5
chr10	75854182	VCL	G	A	6	0.0694888	.	MedGen:C1969639,OMIM:611407|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310	Dilated_cardiomyopathy_1W|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant	Benign/Likely_benign	0.0062	synonymous_SNV	exonic	.	0.0062	0.0051	0.0037	-1.5
chr10	75855541	VCL	C	T	1	0.00319489	.	MedGen:C1969639,OMIM:611407|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310	Dilated_cardiomyopathy_1W|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant	Conflicting_interpretations_of_pathogenicity	0.0028	synonymous_SNV	exonic	.	0.0015	0.0022	0.0022	0.5
chr10	75863620	VCL	C	G	1	.	3.464	.	.	.	.	nonsynonymous_SNV	exonic	T	.	.	.	2
chr10	75865065	VCL	G	A	147	0.324681	.	MedGen:CN169374|MedGen:CN230736|MedGen:CN239310	not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant	Benign/Likely_benign	0.5852	synonymous_SNV	exonic	.	0.5895	0.5798	0.5824	-1.5
chr10	75871735	VCL	C	G	194	0.623003	.	MedGen:CN169374|MedGen:CN230736|MedGen:CN239310	not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant	Benign/Likely_benign	0.7428	synonymous_SNV	exonic	.	0.7521	0.7412	0.7447	-1.5
chr10	75874667	VCL	A	T	2	0.000998403	.	MedGen:C1969639,OMIM:611407|MedGen:CN169374|MedGen:CN239310	Dilated_cardiomyopathy_1W|not_specified|Dilated_Cardiomyopathy,_Dominant	Conflicting_interpretations_of_pathogenicity	0.0058	.	intronic	.	0.0038	0.0045	0.0045	0.5
chr10	88439933	LDB3	G	A	1	0.000399361	.	.	.	.	1.587e-05	.	intronic	.	.	1.804e-05	0	1
chr10	88441198	LDB3	C	T	1	.	.	.	.	.	1.575e-05	synonymous_SNV	exonic	.	.	9.246e-06	.	2
chr10	88441336	LDB3	C	T	2	0.000199681	.	MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN230736	Myofibrillar_myopathy,_ZASP-related|not_specified|Cardiovascular_phenotype	Benign/Likely_benign	0.0040	synonymous_SNV	exonic	.	0.0027	0.0031	0.0025	0
chr10	88441404	LDB3	G	A	1	.	-0.488	MedGen:CN169374	not_specified	Uncertain_significance	1.563e-05	nonsynonymous_SNV	exonic	T	0.0001	9.025e-06	0	2
chr10	88445385	LDB3	G	C	177	0.624201	.	MedGen:CN169374	not_specified	Benign	0.7452	.	intronic	.	0.7528	0.7447	0.7454	-1
chr10	88446811	LDB3	G	A	7	0.0613019	.	Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN239310|MedGen:CN239446	Left_ventricular_noncompaction_cardiomyopathy|Myofibrillar_myopathy,_ZASP-related|not_specified|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant	Benign/Likely_benign	0.0363	.	intronic	.	0.0396	0.0360	0.0414	-1.5
chr10	88446830	LDB3	G	A	1	0.00778754	3.591	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	Primary_dilated_cardiomyopathy|Dilated_cardiomyopathy_1C|Myofibrillar_myopathy,_ZASP-related|not_specified|Cardiovascular_phenotype|not_provided	Conflicting_interpretations_of_pathogenicity	0.0043	nonsynonymous_SNV	exonic	T	0.0040	0.0040	0.0029	0.5
chr10	88446985	LDB3	T	C	7	0.0567093	.	Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446	Left_ventricular_noncompaction_cardiomyopathy|Myofibrillar_myopathy,_ZASP-related|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant	Benign/Likely_benign	0.0361	synonymous_SNV	exonic	.	0.0407	0.0360	0.0414	-1.5
chr10	88447027	LDB3	T	C	2	0.00339457	.	Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446	Left_ventricular_noncompaction_cardiomyopathy|Myofibrillar_myopathy,_ZASP-related|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant	Conflicting_interpretations_of_pathogenicity	0.0056	synonymous_SNV	exonic	.	0.0036	0.0048	0.0044	0.5
chr10	88447036	LDB3	G	A	1	.	.	Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN239310|MedGen:CN239446	Left_ventricular_noncompaction_cardiomyopathy|Myofibrillar_myopathy,_ZASP-related|not_specified|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant	Conflicting_interpretations_of_pathogenicity	7.53e-05	.	intronic	.	.	6.287e-05	.	2.5
chr10	88458996	LDB3	TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTG	TTCTCTCTCTCTCTCTCTCTCTCTG,TTCTCTCTCTCTCTCTCTCTCTCTCTCTG,TTCTCTCTCTCTCTCTCTCTCTCTCTG	1	0.109824	.	MedGen:CN169374	not_specified	Benign/Likely_benign	0.1476	.	intronic	.	.	0.1547	0.0808	-1
chr10	88459095	LDB3	T	C	1	.	.	MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912	Myofibrillar_myopathy,_ZASP-related	Likely_benign	1.501e-05	synonymous_SNV	exonic	.	.	2.688e-05	.	2
chr10	88466465	LDB3	C	T	7	0.0201677	.	Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN230736	Cardiomyopathy|Myofibrillar_myopathy,_ZASP-related|not_specified|Cardiovascular_phenotype	Benign	0.0489	synonymous_SNV	exonic	.	0.0369	0.0442	0.0477	-1
chr10	88469744	LDB3	GCCCCTG	GCCCTG	1	.	.	.	.	.	.	frameshift_deletion	exonic	.	.	9.04e-06	.	2
chr10	88476200	LDB3	G	C	2	.	1.192	.	.	.	.	nonsynonymous_SNV	exonic	T	.	0	.	2
chr10	88476217	LDB3	A	C	1	.	.	.	.	.	.	synonymous_SNV	exonic	.	.	0	.	2
chr10	88476505	LDB3	C	T	1	.	.	MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN230736	Myofibrillar_myopathy,_ZASP-related|not_specified|Cardiovascular_phenotype	Likely_benign	0.0012	synonymous_SNV	exonic	.	0.0007	0.0009	0.0051	0
chr10	88485931	LDB3	C	T	2	0.00139776	.	MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202	Myofibrillar_myopathy,_ZASP-related|not_specified|Cardiovascular_phenotype|not_provided	Benign/Likely_benign	0.0039	synonymous_SNV	exonic	.	0.0043	0.0048	0.0046	0
chr10	88492621	LDB3	C	T	1	.	.	.	.	.	0	.	intronic	.	.	0	6.663e-05	2
chr10	92675322	ANKRD1	G	A	2	0.000199681	4.179	EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|Gene:6893,Human_Phenotype_Ontology:HP:0005160,MedGen:C0036400,OMIM:106700,Orphanet:ORPHA185|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN119551|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202	Primary_dilated_cardiomyopathy|Total_anomalous_pulmonary_venous_return|Primary_familial_hypertrophic_cardiomyopathy|ANKRD1-related_dilated_cardiomyopathy|not_specified|Cardiovascular_phenotype|not_provided	Conflicting_interpretations_of_pathogenicity	0.0048	nonsynonymous_SNV	exonic	T	0.0058	0.0035	0.0026	0.5
chr10	92675649	ANKRD1	GAAAACG	GAAACG	46	0.178714	.	MedGen:CN169374|MedGen:CN239310|MedGen:CN517202	not_specified|Dilated_Cardiomyopathy,_Dominant|not_provided	Benign/Likely_benign	0.1657	.	intronic	.	0.1575	0.1591	0.1705	-1.5
chr10	92678738	ANKRD1	AAAATAAATAAATATATATATATATATATATATATAG	AAAATATATATATATATATATATATATATATATAG,AAAATATATATATATATATATATATATAG	46	.	.	Gene:6893,Human_Phenotype_Ontology:HP:0005160,MedGen:C0036400,OMIM:106700,Orphanet:ORPHA185|Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:CN119551|MedGen:CN169374|MedGen:CN239310	Total_anomalous_pulmonary_venous_return|Cardiomyopathy|ANKRD1-related_dilated_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant	Conflicting_interpretations_of_pathogenicity	0.1255	.	intronic	.	.	0.0657	0.0093	-0.5
chr10	92678740	ANKRD1	AATAAATAAATATATATATATATATATATATATAG	AATATATATATATATATATATATATATATATATAG,AATATATATATATATAG,AATATATATAG,AATATATATATATATATATATATATATATATAG,AATATATGTATATATAG,AATATATATATATATATATATATATATAG	46	.	.	Gene:6893,Human_Phenotype_Ontology:HP:0005160,MedGen:C0036400,OMIM:106700,Orphanet:ORPHA185|Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:CN169374	Total_anomalous_pulmonary_venous_return|Cardiomyopathy|not_specified	Benign	0.0427	.	intronic\x3bintronic	.	.	0.0303	0.0447	-1
chr10	92678742	ANKRD1	TAAATAAATATATATATATATATATATATATAG	TATATATATATATATATATATATATATATATAG,TATATATATATATATATATATATATAG	46	.	.	Gene:6893,Human_Phenotype_Ontology:HP:0005160,MedGen:C0036400,OMIM:106700,Orphanet:ORPHA185|Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:CN169374	Total_anomalous_pulmonary_venous_return|Cardiomyopathy|not_specified	Benign	0.0427	.	intronic\x3bintronic	.	.	0.0303	0.0447	-1
chr10	92678744	ANKRD1	AATAAATATATATATATATATATATATATAG	TATATATATATATATATATATATATATATAG,TATGTATATATATATATATATATATATATAG,TATAAATATATATATATATATATATATATAG	46	0.810104	.	MedGen:CN169374|MedGen:CN239310	not_specified|Dilated_Cardiomyopathy,_Dominant	Benign/Likely_benign	0.0120	.	intronic	.	.	0.0017	0.0083	-1.5
chr10	92678748	ANKRD1	A	T	1	0.784545	.	MedGen:CN169374|MedGen:CN517202	not_specified|not_provided	Benign	0.0429	.	intronic	.	.	0.0085	0.0626	-1
chr10	92678760	ANKRD1	TAT	GAG	1	.	.	.	.	.	.	.	intronic	.	.	.	.	2
chr10	92678765	ANKRD1	A	G	97	0.441094	.	.	.	.	0.6758	.	intronic	.	.	0.6641	0.5462	-1
chr10	101473218	COX15	A	G	199	0.827077	0.914	MedGen:C0268237,OMIM:220110,Orphanet:ORPHA254905,SNOMED_CT:67434000|MedGen:CN169374	Hepatic_failure,_early-onset,_and_neurologic_disorder_due_to_cytochrome_C_oxidase_deficiency|not_specified	Benign	0.8737	nonsynonymous_SNV	exonic	T	0.8733	0.8763	0.8814	-1
chr10	101473302	COX15	A	G	1	.	.	.	.	.	.	.	UTR3	.	.	.	.	2
chr10	101474340	COX15	A	C	1	.	.	.	.	.	1.499e-05	.	UTR3	.	.	9.162e-06	.	2
chr10	101474499	COX15	T	C	48	0.233427	.	.	.	.	0.2828	.	intronic	.	0.2957	0.2904	0.3256	-1
chr10	101491829	COX15	C	A	1	0.00638978	.	MedGen:CN169374	not_specified	Benign	0.0004	.	UTR5	.	0.0005	0.0003	0.0003	0
chr10	112404302	RBM20	GGCGT	AGCGT	35	0.222244	.	MedGen:CN169374|MedGen:CN230736|MedGen:CN239310	not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant	Benign/Likely_benign	0.1372	synonymous_SNV	exonic	.	.	0.1492	0.1394	-1.5
chr10	112540883	RBM20	ACCCCCCA	ACCCCCCCA	1	.	.	.	.	.	.	frameshift_insertion	exonic	.	.	.	.	2
chr10	112541062	RBM20	G	A	1	0.0271565	5.048	MedGen:C2750995,OMIM:613172|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310	Dilated_cardiomyopathy_1DD|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant	Benign/Likely_benign	0.0017	nonsynonymous_SNV	exonic	T	0.0016	0.0012	0.0003	-0.5
chr10	112541506	RBM20	G	A	1	.	2.886	MedGen:C2750995,OMIM:613172	Dilated_cardiomyopathy_1DD	Uncertain_significance	0.0001	nonsynonymous_SNV	exonic	T	.	1.782e-05	.	2
chr10	112543217	RBM20	G	A	162	0.788139	.	.	.	.	0.7966	.	intronic	.	0.7879	0.7960	0.8062	-1
chr10	112544063	RBM20	A	C	127	0.633986	.	.	.	.	0.5824	.	intronic	.	0.5698	0.5772	0.5783	-1
chr10	112544125	RBM20	C	T	1	0.00199681	3.738	EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:C2750995,OMIM:613172|MedGen:CN169374|MedGen:CN230736	Primary_dilated_cardiomyopathy|Dilated_cardiomyopathy_1DD|not_specified|Cardiovascular_phenotype	Conflicting_interpretations_of_pathogenicity	0.0095	nonsynonymous_SNV	exonic	T	0.0104	0.0078	0.0063	-0.5
chr10	112544655	RBM20	C	T	37	0.164137	.	MedGen:CN169374|MedGen:CN239310	not_specified|Dilated_Cardiomyopathy,_Dominant	Benign/Likely_benign	0.2137	.	intronic	.	0.2200	0.2240	0.2270	-1.5
chr10	112570130	RBM20	G	C	8	0.0365415	.	MedGen:C2750995,OMIM:613172|MedGen:CN169374|MedGen:CN239310	Dilated_cardiomyopathy_1DD|not_specified|Dilated_Cardiomyopathy,_Dominant	Benign/Likely_benign	0.0253	.	intronic	.	0.0245	0.0229	0.0225	-1.5
chr10	112570243	RBM20	T	C	95	0.316494	.	.	.	.	0.3895	.	intronic	.	0.3755	0.3846	0.3705	-1
chr10	112572458	RBM20	G	C	230	0.991014	.	MedGen:C2750995,OMIM:613172|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310	Dilated_cardiomyopathy_1DD|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant	Benign/Likely_benign	0.9998	nonsynonymous_SNV	exonic	.	0.9994	0.9997	0.9997	-1.5
chr10	112572527	RBM20	G	A	1	.	6.711	.	.	.	.	nonsynonymous_SNV	exonic	D	.	1.728e-05	.	4
chr10	112581138	RBM20	A	G	1	0.000399361	4.173	Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C2750995,OMIM:613172|MedGen:CN169374	Cardiomyopathy|Dilated_cardiomyopathy_1DD|not_specified	Uncertain_significance	0.0001	nonsynonymous_SNV	exonic	D	.	0.0002	0.0002	2
chr10	112581683	RBM20	G	A	1	.	.	.	.	.	.	synonymous_SNV	exonic	.	.	.	.	2
chr10	112583189	RBM20	CTTTTTTTTTTTTTTTTTTTTTTTTTTTG	CTTTTTTTTTTTTTTG,CTTTTTTTTTTTTTG	1	.	.	.	.	.	0.1866	.	intronic	.	.	0.1871	0.1368	-1
chr10	112583218	RBM20	C	T	2	.	.	MedGen:CN169374	not_specified	Benign	0.0025	.	intronic	.	.	0.0028	0.0066	0
chr10	112590810	RBM20	G	C	230	0.969649	.	MedGen:C2750995,OMIM:613172|MedGen:CN169374|MedGen:CN239310	Dilated_cardiomyopathy_1DD|not_specified|Dilated_Cardiomyopathy,_Dominant	Benign/Likely_benign	0.9998	.	intronic	.	0.9994	0.9998	0.9998	-1.5
chr10	112595719	RBM20	G	C	201	0.697085	5.504	MedGen:C2750995,OMIM:613172|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310	Dilated_cardiomyopathy_1DD|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant	Benign/Likely_benign	0.8681	nonsynonymous_SNV	exonic	T	0.8724	0.8665	0.8760	-0.5
chr10	121411171	BAG3	G	A	1	0.000199681	.	MedGen:CN169374|MedGen:CN239310|MedGen:CN239446	not_specified|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant	Benign/Likely_benign	0.0052	.	UTR5	.	0.0037	0.0040	0.0035	-0.5
chr10	121429394	BAG3	G	A	5	0.00738818	2.270	MedGen:C2751831,OMIM:612954,Orphanet:ORPHA199340|MedGen:C3151293,OMIM:613881|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446|MedGen:CN517202	Myofibrillar_myopathy,_BAG3-related|Dilated_cardiomyopathy_1HH|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant|not_provided	Benign/Likely_benign	0.0301	nonsynonymous_SNV	exonic	T	0.0326	0.0312	0.0351	-1.5
chr10	121429633	BAG3	T	C	40	0.0964457	4.176	MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446	not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant	Benign	0.2214	nonsynonymous_SNV	exonic	T	0.2073	0.2177	0.2062	-2
chr10	121429645	BAG3	G	A	1	0.00179712	0.668	MedGen:C2751831,OMIM:612954,Orphanet:ORPHA199340|MedGen:C3151293,OMIM:613881|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446|MedGen:CN517202	Myofibrillar_myopathy,_BAG3-related|Dilated_cardiomyopathy_1HH|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant|not_provided	Benign/Likely_benign	0.0046	nonsynonymous_SNV	exonic	T	.	0.0036	0.0029	-0.5
chr10	121432002	BAG3	A	G	1	.	4.801	MedGen:C2751831,OMIM:612954,Orphanet:ORPHA199340|MedGen:C3151293,OMIM:613881|MedGen:CN169374	Myofibrillar_myopathy,_BAG3-related|Dilated_cardiomyopathy_1HH|not_specified	Uncertain_significance	6.021e-05	nonsynonymous_SNV	exonic	T	0.0001	3.594e-05	.	2
chr10	121432040	BAG3	C	T	1	0.000199681	2.527	MedGen:CN169374	not_specified	Likely_benign	1.507e-05	nonsynonymous_SNV	exonic	T	.	1.804e-05	0	1
chr10	121432089	BAG3	A	T	1	.	5.939	.	.	.	0	nonsynonymous_SNV	exonic	D	.	0	0	4
chr10	121436068	BAG3	T	G	20	0.155751	.	MedGen:C2751831,OMIM:612954,Orphanet:ORPHA199340|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446|MedGen:CN517202	Myofibrillar_myopathy,_BAG3-related|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant|not_provided	Benign	0.0846	synonymous_SNV	exonic	.	0.0881	0.0861	0.0958	-2
chr10	121436286	BAG3	C	T	20	0.155551	3.244	MedGen:C2751831,OMIM:612954,Orphanet:ORPHA199340|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446|MedGen:CN517202	Myofibrillar_myopathy,_BAG3-related|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant|not_provided	Benign	0.0844	nonsynonymous_SNV	exonic	T	0.0877	0.0860	0.0960	-2
chr10	121436362	BAG3	A	G	195	0.70647	.	MedGen:C2751831,OMIM:612954,Orphanet:ORPHA199340|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446|MedGen:CN517202	Myofibrillar_myopathy,_BAG3-related|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant|not_provided	Benign	0.7819	synonymous_SNV	exonic	.	0.7792	0.7841	0.7798	-2
chr11	534197	HRAS	C	T	6	0.0766773	.	MedGen:CN169374	not_specified	Benign	0.0401	.	intronic	.	0.0431	0.0417	0.0474	-1
chr11	534242	HRAS	A	G	89	0.297125	.	MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374|MedGen:CN517202	Rasopathy|not_specified|not_provided	Benign	0.3297	synonymous_SNV	exonic	.	0.3441	0.3384	0.3542	-1
chr11	534332	HRAS	G	A	20	0.0357428	.	MedGen:C0587248,OMIM:218040,Orphanet:ORPHA3071,SNOMED_CT:309776008|MedGen:CN169374|MedGen:CN517202	Costello_syndrome|not_specified|not_provided	Benign	0.0573	.	UTR5	.	0.0462	0.0500	0.0430	-1
chr11	2466368	KCNQ1	C	A	2	.	6.197	.	.	.	.	nonsynonymous_SNV	exonic	D	.	.	.	4
chr11	2466419	KCNQ1	G	A	2	.	3.160	.	.	.	.	nonsynonymous_SNV	exonic	D	.	.	.	3
chr11	2466433	KCNQ1	C	A	1	.	.	MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374	Long_QT_syndrome|not_specified	Likely_benign	.	synonymous_SNV	exonic	.	.	0	0	2
chr11	2466436	KCNQ1	C	A	1	.	2.245	.	.	.	.	nonsynonymous_SNV	exonic	D	.	.	.	3
chr11	2591837	KCNQ1	C	T	1	.	.	.	.	.	4.616e-05	.	intronic	.	.	6.34e-05	.	2
chr11	2592673	KCNQ1	A	C	2	.	.	.	.	.	.	.	intronic	.	.	.	.	2
chr11	2594106	KCNQ1	C	T	1	0.000399361	.	MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736	Long_QT_syndrome|not_specified|Cardiovascular_phenotype	Benign/Likely_benign	0.0009	synonymous_SNV	exonic	.	0.0002	0.0004	0.0003	0
chr11	2594172	KCNQ1	C	T	1	.	6.011	MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1141890,Orphanet:ORPHA768,SNOMED_CT:442917000|MedGen:CN169374|MedGen:CN230736	Long_QT_syndrome|Congenital_long_QT_syndrome|not_specified|Cardiovascular_phenotype	Uncertain_significance	1.526e-05	nonsynonymous_SNV	exonic	D	.	3.594e-05	6.674e-05	4
chr11	2606414	KCNQ1	C	T	1	.	.	.	.	.	3.008e-05	.	intronic	.	.	2.688e-05	.	2
chr11	2608850	KCNQ1	G	T	3	0.000599042	0.832	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:CN517202	Long_QT_syndrome|Jervell_and_Lange-Nielsen_syndrome|short_QT_syndrome|Romano-Ward_syndrome|not_specified|Familial_atrial_fibrillation|not_provided	Conflicting_interpretations_of_pathogenicity	0.0012	nonsynonymous_SNV	exonic	D	0.0008	0.0012	0.0004	2
chr11	2683177	KCNQ1OT1	C	T	2	0.0129792	.	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	Long_QT_syndrome|Jervell_and_Lange-Nielsen_syndrome|short_QT_syndrome|Romano-Ward_syndrome|not_specified|Familial_atrial_fibrillation	Benign/Likely_benign	0.0112	.	ncRNA_exonic	.	0.0138	0.0128	0.0136	-1
chr11	2790163	KCNQ1	T	C	37	0.0461262	.	MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0003811,OMIM:115000|MedGen:C0022387,Orphanet:ORPHA90647,SNOMED_CT:373905003|MedGen:C2348199,Orphanet:ORPHA51083|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN204347,Orphanet:ORPHA334	Long_QT_syndrome|Cardiac_arrhythmia|Jervell_and_Lange-Nielsen_syndrome|short_QT_syndrome|Romano-Ward_syndrome|not_specified|Familial_atrial_fibrillation	Benign/Likely_benign	0.1177	.	intronic	.	0.1172	0.1165	0.1083	-1
chr11	2797237	KCNQ1	G	A	36	0.180911	.	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	Long_QT_syndrome|Jervell_and_Lange-Nielsen_syndrome|short_QT_syndrome|Romano-Ward_syndrome|not_specified|Familial_atrial_fibrillation|Cardiovascular_phenotype	Benign	0.2836	synonymous_SNV	exonic	.	0.1932	0.1866	0.2029	-1
chr11	2797320	KCNQ1	AGGT	GGGT	148	0.668331	.	.	.	.	0.6840	.	intronic	.	0.6891	0.6784	0.6863	-1
chr11	2798305	KCNQ1	T	C	46	0.223842	.	.	.	.	0.2406	.	intronic	.	0.2302	0.2356	0.2468	-1
chr11	2799299	KCNQ1	G	T	5	0.0133786	.	.	.	.	0.0484	.	intronic	.	0.0511	0.0514	0.0608	-1
chr11	2869063	KCNQ1	G	A	1	.	-0.549	MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN517202	Long_QT_syndrome|not_specified|not_provided	Uncertain_significance	0	nonsynonymous_SNV	exonic	D	.	1.455e-05	0	3
chr11	2869188	KCNQ1	C	T	44	0.0832668	.	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	Long_QT_syndrome|Jervell_and_Lange-Nielsen_syndrome|short_QT_syndrome|Romano-Ward_syndrome|not_specified|Familial_atrial_fibrillation|Cardiovascular_phenotype	Benign	0.3658	synonymous_SNV	exonic	.	0.2328	0.2550	0.2676	-1
chr11	6629665	ILK	C	T	52	0.314696	.	MedGen:CN169374|MedGen:CN230736	not_specified|Cardiovascular_phenotype	Benign	0.2634	synonymous_SNV	exonic	.	0.25	0.2605	0.2609	-1
chr11	6629915	ILK	T	G	1	.	.	.	.	.	4.496e-05	.	intronic	.	.	3.581e-05	.	2
chr11	6630028	ILK	TCCCCCAT	TCCCCAT	230	1	.	Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:CN169374	Cardiomyopathy|not_specified	Benign	1.0000	.	intronic	.	.	1.0000	1	-1
chr11	6630410	ILK	T	C	46	0.120807	.	.	.	.	0.2542	.	intronic	.	0.2548	0.2530	0.2603	-1
chr11	6630524	ILK	C	T	3	0.000399361	.	MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005	Primary_familial_hypertrophic_cardiomyopathy	Benign	0.0009	.	intronic	.	0.0010	0.0008	0.0004	1
chr11	6630833	ILK	G	A	52	0.347444	.	MedGen:CN169374|MedGen:CN230736	not_specified|Cardiovascular_phenotype	Benign	0.2642	synonymous_SNV	exonic	.	0.2514	0.2615	0.2613	-1
chr11	6631016	ILK	C	T	48	0.160144	.	MedGen:CN169374|MedGen:CN230736	not_specified|Cardiovascular_phenotype	Benign	0.2594	synonymous_SNV	exonic	.	0.2647	0.2581	0.2689	-1
chr11	6631300	ILK	G	A	6	0.00579073	.	.	.	.	0.0173	.	intronic	.	0.0177	0.0164	0.0124	-1
chr11	6631361	ILK	C	T	2	0.019369	.	MedGen:CN169374	not_specified	Benign	0.0051	.	intronic	.	0.0068	0.0050	0.0080	-1
chr11	19204234	CSRP3	C	A	2	.	2.913	MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005	Primary_familial_hypertrophic_cardiomyopathy	Uncertain_significance	0.0001	nonsynonymous_SNV	exonic	T	0.0003	0.0001	6.661e-05	1
chr11	19207841	CSRP3	C	T	25	0.0427316	.	Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310	Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant	Benign/Likely_benign	0.1124	synonymous_SNV	exonic	.	0.1073	0.1089	0.0981	-1.5
chr11	19207878	CSRP3	C	T	1	0.000199681	4.863	Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1843808,OMIM:607482|MedGen:C2677491,OMIM:612124|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202	Hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1M|Familial_hypertrophic_cardiomyopathy_12|not_specified|Cardiovascular_phenotype|not_provided	Conflicting_interpretations_of_pathogenicity	0.0020	nonsynonymous_SNV	exonic	T	0.0008	0.0015	0.0040	0.5
chr11	19209703	CSRP3	A	G	1	.	.	MedGen:C1843808,OMIM:607482|MedGen:C2677491,OMIM:612124	Dilated_cardiomyopathy_1M|Familial_hypertrophic_cardiomyopathy_12	Likely_benign	2.998e-05	synonymous_SNV	exonic	.	.	2.694e-05	.	1.5
chr11	47353498	MYBPC3	G	A	33	0.356629	.	.	.	.	.	.	intronic	.	0.1747	.	0.1750	-1
chr11	47353695	MYBPC3	C	T	1	.	4.508	Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN169374	Hypertrophic_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|not_specified	Uncertain_significance	6.02e-05	nonsynonymous_SNV	exonic	T	0.0004	5.375e-05	.	1
chr11	47354485	MYBPC3	A	G	1	.	6.209	.	.	.	.	nonsynonymous_SNV	exonic	D	.	.	6.685e-05	4
chr11	47354787	MYBPC3	C	T	66	0.476238	.	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	Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant	Benign/Likely_benign	0.3910	synonymous_SNV	exonic	.	0.3039	0.3187	0.3157	-1.5
chr11	47354905	MYBPC3	T	C	28	0.0329473	.	MedGen:CN169374	not_specified	Benign	0.1510	.	intronic	.	0.1060	0.1074	0.1200	-1
chr11	47355191	MYBPC3	C	T	1	.	3.321	Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374	Hypertrophic_cardiomyopathy|not_specified	Conflicting_interpretations_of_pathogenicity	9.022e-05	nonsynonymous_SNV	exonic	T	0.0001	0.0001	0.0001	2
chr11	47357416	MYBPC3	G	A,C	1	.	.	.	.	.	.	.	intronic	.	.	.	.	2
chr11	47358997	MYBPC3	G	A	8	0.048123	.	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	Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant	Benign/Likely_benign	0.0385	synonymous_SNV	exonic	.	0.0351	0.0385	0.0411	-1.5
chr11	47359343	MYBPC3	C	T	1	.	5.608	EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN517202	Primary_dilated_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|not_provided	Likely_pathogenic	0	nonsynonymous_SNV	exonic	T	0.0001	1.856e-05	.	3.5
chr11	47360053	MYBPC3	G	C	8	0.0694888	.	MedGen:C1861862,OMIM:115197|MedGen:CN169374	Familial_hypertrophic_cardiomyopathy_4|not_specified	Benign	0.0392	.	intronic	.	0.0363	0.0393	0.0421	-1
chr11	47360123	MYBPC3	T	C	1	.	.	.	.	.	.	synonymous_SNV	exonic	.	.	.	.	2
chr11	47360129	MYBPC3	C	T	1	.	.	Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374	Hypertrophic_cardiomyopathy|not_specified	Likely_benign	0	synonymous_SNV	exonic	.	.	0	.	2
chr11	47360829	MYBPC3	G	A	1	.	.	.	.	.	0	.	intronic	.	.	0	.	2
chr11	47362642	MYBPC3	C	T	1	0.00898562	.	MedGen:CN169374	not_specified	Benign	0.0272	.	intronic	.	0.0192	0.0218	0.0229	-1
chr11	47364189	MYBPC3	C	T	1	0.00179712	0.092	Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C1861862,OMIM:115197|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202	Hypertrophic_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Cardiovascular_phenotype|not_provided	Benign/Likely_benign	0.0002	nonsynonymous_SNV	exonic	T	0.0008	0.0002	0.0001	0
chr11	47364259	MYBPC3	G	C	1	.	.	MedGen:CN169374	not_specified	Likely_benign	9.002e-05	synonymous_SNV	exonic	.	.	8.057e-05	0	2
chr11	47365199	MYBPC3	G	A	73	0.249601	.	MedGen:CN169374	not_specified	Benign	0.3310	.	intronic	.	0.3084	0.3074	0.2921	-1
chr11	47367871	MYBPC3	C	T	2	0.000798722	4.274	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	Primary_dilated_cardiomyopathy|Hypertrophic_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1A|Familial_hypertrophic_cardiomyopathy_4|not_specified|Cardiovascular_phenotype|not_provided	Benign/Likely_benign	0.0078	nonsynonymous_SNV	exonic	T	0.0038	0.0056	0.0093	-0.5
chr11	47368153	MYBPC3	G	T	1	0.00838658	.	MedGen:CN169374	not_specified	Benign	0.0257	.	intronic	.	0.0242	0.0255	0.0248	-1
chr11	47369312	MYBPC3	C	T	1	.	.	.	.	.	.	.	intronic	.	.	.	.	2
chr11	47369443	MYBPC3	G	A	31	0.0611022	.	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	Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant	Benign/Likely_benign	0.2120	synonymous_SNV	exonic	.	0.1184	0.1256	0.1173	-1.5
chr11	47370041	MYBPC3	T	C	31	0.0670927	0.243	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	Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant	Benign/Likely_benign	0.1393	nonsynonymous_SNV	exonic	T	0.1263	0.1305	0.1209	-1.5
chr11	47371414	MYBPC3	C	T	5	0.00199681	2.583	Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C1861862,OMIM:115197|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202	Hypertrophic_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Cardiovascular_phenotype|not_provided	Conflicting_interpretations_of_pathogenicity	0.0034	nonsynonymous_SNV	exonic	T	0.0034	0.0033	0.0026	2
chr11	47371442	MYBPC3	G	A	2	0.0249601	.	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	Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant	Benign/Likely_benign	0.0501	synonymous_SNV	exonic	.	0.0463	0.0478	0.0470	-1.5
chr11	47371484	MYBPC3	AGGGGCGA	AGGGCGA	171	0.610823	.	Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1861862,OMIM:115197|MedGen:CN169374|MedGen:CN239310	Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Dilated_Cardiomyopathy,_Dominant	Benign/Likely_benign	0.7343	.	intronic	.	0.7248	0.7173	0.7226	-1.5
chr11	47371578	MYBPC3	G	A	5	0.00838658	.	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	Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant	Benign/Likely_benign	0.0487	synonymous_SNV	exonic	.	0.0307	0.0318	0.0302	-1.5
chr11	47371598	MYBPC3	C	T	11	0.0329473	4.662	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	Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant	Benign/Likely_benign	0.1402	nonsynonymous_SNV	exonic	T	0.0864	0.0933	0.1009	-1.5
chr11	47372090	MYBPC3	T	G	2	.	.	.	.	.	.	synonymous_SNV	exonic	.	.	.	.	2
chr11	47372197	MYBPC3	A	C	1	.	.	.	.	.	.	.	intronic	.	.	.	.	2
chr11	47372887	MYBPC3	C	T	1	.	.	.	.	.	0.0001	synonymous_SNV	exonic	.	0.0001	3.079e-05	.	2
chr11	74168411	KCNE3	A	G	25	0.141174	.	MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736	Brugada_syndrome|not_specified|Cardiovascular_phenotype	Benign/Likely_benign	0.1151	synonymous_SNV	exonic	.	0.1084	0.1106	0.1314	-1
chr11	111781047	CRYAB	A	C	79	0.239816	-0.652	Human_Phenotype_Ontology:HP:0001115,MedGen:C1850191|MedGen:C1837317,OMIM:608810,Orphanet:ORPHA399058|MedGen:CN169374|MedGen:CN230736|MedGen:CN239446	Posterior_polar_cataract|Alpha-B_crystallinopathy|not_specified|Cardiovascular_phenotype|Myofibrillar_Myopathy,_Dominant	Benign	0.2914	.	intronic	T	0.3000	0.2894	0.2783	-1
chr11	111782284	CRYAB	C	T	4	0.0091853	.	Human_Phenotype_Ontology:HP:0001115,MedGen:C1850191|MedGen:C1837317,OMIM:608810,Orphanet:ORPHA399058|MedGen:C3554649,OMIM:615184|MedGen:CN169374|MedGen:CN230736|MedGen:CN239446	Posterior_polar_cataract|Alpha-B_crystallinopathy|Dilated_cardiomyopathy_1II|not_specified|Cardiovascular_phenotype|Myofibrillar_Myopathy,_Dominant	Benign	0.0232	synonymous_SNV	exonic	.	0.0226	0.0206	0.0210	-2
chr11	118015771	SCN4B	C	T	1	.	3.981	.	.	.	.	.	splicing	.	.	.	.	6
chr11	118015832	SCN4B	G	A	10	0.0349441	.	MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678484,OMIM:611819|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736	Long_QT_syndrome|Long_QT_syndrome_10|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype	Benign/Likely_benign	0.0398	synonymous_SNV	exonic	.	0.0374	0.0392	0.0372	-1
chr11	118023323	SCN4B	C	T	1	.	.	.	.	.	.	.	intronic	.	.	9.206e-06	.	2
chr11	118037813	SCN2B	G	T	101	0.514377	.	MedGen:CN169374	not_specified	Benign	0.4739	.	intronic	.	0.4707	0.4661	0.4683	-1
chr11	123504813	SCN3B	T	G	1	0.000599042	.	MedGen:CN169374	not_specified	Benign	0.0006	.	intronic	.	0.0007	0.0009	0.0011	0
chr11	123504959	SCN3B	C	G	146	0.750599	.	.	.	.	0.5550	.	intronic	.	0.5523	0.5519	0.5424	-1
chr11	123513161	SCN3B	G	A	25	0.0820687	.	MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736	Brugada_syndrome|not_specified|Cardiovascular_phenotype	Benign/Likely_benign	0.0915	synonymous_SNV	exonic	.	0.0896	0.0880	0.0882	-1
chr11	123513209	SCN3B	C	T	2	.	.	MedGen:C2751088,OMIM:613120|MedGen:CN169374|MedGen:CN230736	Brugada_syndrome_7|not_specified|Cardiovascular_phenotype	Benign/Likely_benign	0.0010	synonymous_SNV	exonic	.	0.0008	0.0010	0.0009	0
chr11	123524411	SCN3B	G	A	28	0.142173	.	.	.	.	0.1402	.	intronic	.	0.1395	0.1415	0.1368	-1
chr11	123524504	SCN3B	A	G	1	.	.	.	.	.	1.5e-05	synonymous_SNV	exonic	.	.	2.686e-05	.	2
chr11	128781339	KCNJ5	T	C	211	0.869808	.	MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN229602,Orphanet:ORPHA235936|MedGen:CN230736	Romano-Ward_syndrome|not_specified|Familial_hyperaldosteronism|Cardiovascular_phenotype	Benign	0.8296	synonymous_SNV	exonic	.	0.8250	0.8274	0.8249	-1
chr11	128781800	KCNJ5	G	T	1	.	6.848	.	.	.	.	nonsynonymous_SNV	exonic	D	.	.	.	4
chr11	128781978	KCNJ5	T	G	211	0.866214	.	MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN229602,Orphanet:ORPHA235936|MedGen:CN230736	Romano-Ward_syndrome|not_specified|Familial_hyperaldosteronism|Cardiovascular_phenotype	Benign	0.8277	synonymous_SNV	exonic	.	0.8216	0.8250	0.8212	-1
chr11	128782002	KCNJ5	T	C	211	0.867013	.	MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN229602,Orphanet:ORPHA235936|MedGen:CN230736	Romano-Ward_syndrome|not_specified|Familial_hyperaldosteronism|Cardiovascular_phenotype	Benign	0.8276	synonymous_SNV	exonic	.	0.8216	0.8248	0.8211	-1
chr11	128782012	KCNJ5	C	G	230	0.995008	0.157	MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN229602,Orphanet:ORPHA235936|MedGen:CN230736	Romano-Ward_syndrome|not_specified|Familial_hyperaldosteronism|Cardiovascular_phenotype	Benign	0.9791	nonsynonymous_SNV	exonic	T	0.9820	0.9792	0.9776	-1
chr11	128782112	KCNJ5	C	T	2	0.076278	.	MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN229602,Orphanet:ORPHA235936	Long_QT_syndrome|Romano-Ward_syndrome|not_specified|Familial_hyperaldosteronism	Benign	0.0110	.	intronic	.	0.0083	0.0100	0.0073	-1
chr11	128786294	KCNJ5	G	A	189	0.735823	.	MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN229602,Orphanet:ORPHA235936	Romano-Ward_syndrome|not_specified|Familial_hyperaldosteronism	Benign	0.7338	.	intronic	.	0.7279	0.7323	0.7287	-1
chr12	2224449	CACNA1C	G	A	3	0.000399361	4.638	MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202	Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype|not_provided	Benign/Likely_benign	0.0117	nonsynonymous_SNV	exonic	D	0.0032	0.0054	0.0049	0
chr12	2224511	CACNA1C	C	T	8	0.0117812	.	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	Long_QT_syndrome|Cardiac_arrhythmia|Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype	Benign/Likely_benign	0.0383	synonymous_SNV	exonic	.	0.0235	0.0265	0.0218	-1
chr12	2229476	CACNA1C	G	A	8	0.0253594	.	MedGen:C0003811,OMIM:115000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374	Cardiac_arrhythmia|Brugada_syndrome|Timothy_syndrome|not_specified	Benign/Likely_benign	0.0265	.	intronic	.	0.0265	0.0266	0.0219	-1
chr12	2558186	CACNA1C	G	A	46	0.120407	.	MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736	Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype	Benign	0.2489	synonymous_SNV	exonic	.	0.2146	0.2094	0.2123	-1
chr12	2558243	CACNA1C	C	T	1	0.000399361	.	MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374	Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|not_specified	Benign/Likely_benign	0.0002	synonymous_SNV	exonic	.	.	6.281e-05	.	1
chr12	2558298	CACNA1C	GTT	ATC	57	.	.	.	.	.	.	.	intronic	.	.	.	.	4
chr12	2595283	CACNA1C	C	T	1	0.0133786	.	MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736	Long_QT_syndrome|not_specified|Cardiovascular_phenotype	Benign	0.0001	synonymous_SNV	exonic	.	0.0002	8.254e-05	0	-1
chr12	2595423	CACNA1C	T	C	2	0.000199681	0.051	MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202	Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype|not_provided	Conflicting_interpretations_of_pathogenicity	0.0009	nonsynonymous_SNV	exonic	T	0.0012	0.0009	0.0007	0
chr12	2613716	CACNA1C	C	T	30	0.0782748	.	MedGen:CN169374	not_specified	Benign	0.0824	.	intronic	.	0.0868	0.0817	0.0716	-1
chr12	2614070	CACNA1C	G	T	2	0.000399361	.	MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736	Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype	Conflicting_interpretations_of_pathogenicity	0.0034	synonymous_SNV	exonic	.	0.0034	0.0033	0.0027	0
chr12	2659082	CACNA1C	G	T	57	0.294928	.	.	.	.	0.3105	.	intronic	.	0.2256	0.2304	0.2286	-1
chr12	2659241	CACNA1C	G	C	1	.	.	.	.	.	6.373e-05	.	intronic	.	.	4.646e-05	0.0001	2
chr12	2694552	CACNA1C	C	T	1	.	3.595	MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374	Long_QT_syndrome|not_specified	Uncertain_significance	3.576e-05	nonsynonymous_SNV	exonic	D	.	8.158e-05	0.0001	3
chr12	2694638	CACNA1C	C	T	26	0.145567	.	MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736	Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype	Benign	0.1305	synonymous_SNV	exonic	.	0.0786	0.0851	0.0765	-1
chr12	2694967	CACNA1C	CTA	CTGTA	1	0.0453275	.	.	.	.	0.0005	.	intronic	.	0.0006	0.0005	0.0003	-1
chr12	2695136	CACNA1C	C	T	2	0.00638978	.	.	.	.	.	.	intronic	.	0.0189	.	0.0209	-1
chr12	2702366	CACNA1C	G	A	1	.	.	.	.	.	6.273e-05	.	intronic	.	.	3.606e-05	.	2
chr12	2702389	CACNA1C	TGAGGAGGAGC	TGAGGAGC	1	.	.	MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374	Long_QT_syndrome|not_specified	Conflicting_interpretations_of_pathogenicity	0.0004	nonframeshift_deletion	exonic	.	0.0020	0.0003	0.0004	0
chr12	2706632	CACNA1C	T	G	1	.	.	.	.	.	.	synonymous_SNV	exonic	.	.	.	.	2
chr12	2706720	CACNA1C	G	C	222	0.951278	.	.	.	.	.	.	intronic	.	0.9739	.	0.9762	-1
chr12	2711010	CACNA1C	C	G	1	.	.	MedGen:CN169374	not_specified	Likely_benign	3.001e-05	.	intronic	.	.	1.791e-05	.	2
chr12	2715861	CACNA1C	C	T	1	.	.	.	.	.	0.0001	.	intronic	.	.	6.146e-05	.	2
chr12	2715862	CACNA1C	G	A	1	.	.	.	.	.	2.477e-05	.	intronic	.	.	2.063e-05	0	2
chr12	2721131	CACNA1C	C	A	1	0.000399361	.	MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736	Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype	Conflicting_interpretations_of_pathogenicity	0.0024	synonymous_SNV	exonic	.	0.0029	0.0021	0.0015	0
chr12	2721137	CACNA1C	C	T	55	0.259185	.	MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736	Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype	Benign	0.1852	synonymous_SNV	exonic	.	.	0.1838	0.1901	-1
chr12	2757710	CACNA1C	G	A	1	0.00319489	.	.	.	.	7.501e-05	.	intronic	.	0.0001	7.171e-05	0	0
chr12	2757754	CACNA1C	AGT	AGC,GGT,CGT	1	.	.	.	.	.	.	.	intronic	.	.	.	.	2
chr12	2757755	CACNA1C	GT	GC	12	.	.	.	.	.	.	.	intronic\x3bintronic	.	.	.	.	4
chr12	2760898	CACNA1C	C	T	14	0.023762	.	MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736	Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype	Benign/Likely_benign	0.0683	synonymous_SNV\x3bsynonymous_SNV	exonic\x3bexonic	.	0.0673	0.0672	0.0676	-1
chr12	2760898	CACNA1C	C	T	1	0.023762	.	MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736	Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype	Benign/Likely_benign	0.0683	synonymous_SNV\x3bsynonymous_SNV	exonic\x3bexonic	.	0.0673	0.0672	0.0676	-1
chr12	2762997	CACNA1C	C	A	1	.	.	MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN230736	Long_QT_syndrome|Cardiovascular_phenotype	Conflicting_interpretations_of_pathogenicity	6.084e-05	.	intronic	.	.	3.593e-05	0	2
chr12	2763103	CACNA1C	G	T	1	.	.	.	.	.	0.0006	.	intronic	.	0.0007	0.0006	0.0003	0
chr12	2774833	CACNA1C	T	C	2	0.0385383	.	MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736	Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype	Benign	0.0031	synonymous_SNV	exonic	.	0.0035	0.0033	0.0027	-1
chr12	2775964	CACNA1C	G	A	1	.	.	.	.	.	4.314e-05	.	intronic	.	.	1.201e-05	.	2
chr12	2778210	na	G	A	1	.	.	MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374	Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|not_specified	Conflicting_interpretations_of_pathogenicity	0.0002	.	ncRNA_intronic	.	0.0002	0.0002	0.0002	1
chr12	2788615	CACNA1C	C	T	3	0.00299521	.	MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736	Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype	Benign/Likely_benign	0.0261	synonymous_SNV	exonic	.	0.0072	0.0094	0.0130	-1
chr12	2788668	CACNA1C	C	G	1	0.000399361	2.872	MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0007196,Orphanet:ORPHA217632|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN517202	Long_QT_syndrome|Cardiomyopathy,_restrictive|Brugada_syndrome|Timothy_syndrome|not_specified|not_provided	Conflicting_interpretations_of_pathogenicity	0.0010	nonsynonymous_SNV	exonic	T	.	0.0006	0.0005	0
chr12	2788810	CACNA1C	C	T	18	0.019369	.	MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736	Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype	Benign/Likely_benign	0.0675	synonymous_SNV	exonic	.	0.0613	0.0646	0.0690	-1
chr12	2788879	CACNA1C	G	A	145	0.526358	.	MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736	Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype	Benign	0.7349	synonymous_SNV	exonic	.	0.7295	0.7229	0.7396	-1
chr12	2788949	CACNA1C	C	G	1	.	1.294	.	.	.	.	nonsynonymous_SNV	exonic	D	.	1.435e-05	.	3
chr12	2791130	CACNA1C	CGA	TGG,CGG	1	.	.	.	.	.	.	frameshift_deletion	exonic	.	.	.	.	2
chr12	2791205	CACNA1C	A	G	230	1	.	MedGen:CN169374	not_specified	Benign	1	nonsynonymous_SNV	exonic	.	1	1	1	-1
chr12	2791722	CACNA1C	C	T	1	0.000199681	.	MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736	Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype	Likely_benign	0.0008	synonymous_SNV	exonic	.	0.0006	0.0009	0.0005	0
chr12	2794932	CACNA1C	A	G	1	0.00938498	.	MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202	Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype|not_provided	Benign/Likely_benign	0.0001	synonymous_SNV	exonic	.	0.0002	0.0001	6.666e-05	0
chr12	2794977	CACNA1C	G	A	1	0.0359425	.	MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736	Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype	Benign/Likely_benign	0.0299	synonymous_SNV	exonic	.	.	0.0237	0.0206	-1
chr12	2795019	na	C	T	1	.	.	MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374	Brugada_syndrome|Timothy_syndrome|not_specified	Benign/Likely_benign	0.0166	.	ncRNA_intronic	.	.	0.0070	0.0039	-1
chr12	2797746	CACNA1C	G	A	1	0.00319489	2.269	MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:C2348199,Orphanet:ORPHA51083|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202	Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|short_QT_syndrome|not_specified|Cardiovascular_phenotype|not_provided	Conflicting_interpretations_of_pathogenicity	0.0021	nonsynonymous_SNV	exonic	T	0.0022	0.0016	0.0012	0
chr12	2797829	CACNA1C	G	A	1	0.000399361	-0.813	.	.	.	6.189e-05	nonsynonymous_SNV	exonic	T	.	7.229e-05	.	1
chr12	2800273	CACNA1C	G	A	1	.	3.985	.	.	.	.	nonsynonymous_SNV	exonic	T	.	.	.	2
chr12	5153493	KCNA5	G	A	1	0.00299521	.	MedGen:C2677106,OMIM:612240|MedGen:CN204347,Orphanet:ORPHA334	Atrial_fibrillation,_familial,_7|Familial_atrial_fibrillation	Conflicting_interpretations_of_pathogenicity	0.0010	synonymous_SNV	exonic	.	0.0003	0.0003	0.0002	0
chr12	5153573	KCNA5	G	A	2	0.000199681	-0.949	.	.	.	0.0010	nonsynonymous_SNV	exonic	T	0.0006	0.0005	0.0005	0
chr12	5153694	KCNA5	C	T	5	0.0147764	.	MedGen:C2677106,OMIM:612240|MedGen:CN204347,Orphanet:ORPHA334	Atrial_fibrillation,_familial,_7|Familial_atrial_fibrillation	Benign/Likely_benign	0.0390	synonymous_SNV	exonic	.	0.0411	0.0403	0.0411	-1
chr12	5153883	KCNA5	C	T	1	0.000599042	.	MedGen:C2677106,OMIM:612240	Atrial_fibrillation,_familial,_7	Benign	0.0050	synonymous_SNV	exonic	.	0.0062	0.0055	0.0039	0
chr12	5154064	KCNA5	G	A	1	0.0081869	1.589	MedGen:C2677106,OMIM:612240|MedGen:CN169374|MedGen:CN204347,Orphanet:ORPHA334	Atrial_fibrillation,_familial,_7|not_specified|Familial_atrial_fibrillation	Benign/Likely_benign	0.0120	nonsynonymous_SNV	exonic	T	0.0127	0.0127	0.0183	-1
chr12	5154462	KCNA5	T	C	229	0.98103	.	MedGen:C2677106,OMIM:612240|MedGen:CN169374|MedGen:CN204347,Orphanet:ORPHA334	Atrial_fibrillation,_familial,_7|not_specified|Familial_atrial_fibrillation	Benign/Likely_benign	0.9999	synonymous_SNV	exonic	.	0.9999	0.9999	0.9999	-1
chr12	5155046	KCNA5	G	A	1	0.00319489	0.664	MedGen:C2677106,OMIM:612240|MedGen:CN029323,OMIM:601144|MedGen:CN169374	Atrial_fibrillation,_familial,_7|Brugada_syndrome_1|not_specified	Benign	0.0083	nonsynonymous_SNV	exonic	T	0.0093	0.0097	0.0080	0
chr12	21918667	KCNJ8	G	A	1	0.000199681	2.046	MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202	Brugada_syndrome|not_specified|Cardiovascular_phenotype|not_provided	Conflicting_interpretations_of_pathogenicity	0.0025	nonsynonymous_SNV	exonic	T	0.0022	0.0008	0.0005	0
chr12	21958259	ABCC9	TAGAAAA	TA	1	.	.	.	.	.	.	.	intronic	.	.	.	.	2
chr12	21958998	ABCC9	CAAAAAAAAAAAAGTGT	CAAAAAAAAAAAGTGT,CAAAAAAAAAAAAAGTGT	1	.	.	MedGen:CN169374	not_specified	Benign	0.0365	.	intronic	.	.	0.0766	0.0014	-1
chr12	21965027	ABCC9	A	C	1	.	.	.	.	.	1.499e-05	synonymous_SNV	exonic	.	.	8.97e-06	.	2
chr12	21965105	ABCC9	A	G	1	.	.	.	.	.	3.007e-05	.	intronic	.	.	2.701e-05	.	2
chr12	21967618	ABCC9	C	T	1	.	.	MedGen:C1837839,OMIM:608569|MedGen:CN169374	Dilated_cardiomyopathy_1O|not_specified	Likely_benign	0.0001	synonymous_SNV	exonic	.	0.0001	0.0001	0.0003	1.5
chr12	21981892	ABCC9	C	T	1	.	.	MedGen:C1837839,OMIM:608569|MedGen:CN169374	Dilated_cardiomyopathy_1O|not_specified	Uncertain_significance	0.0001	synonymous_SNV	exonic	.	0.0001	0.0001	0.0004	2
chr12	22001193	ABCC9	T	C	1	0.000399361	.	MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517|MedGen:CN169374|MedGen:CN204347,Orphanet:ORPHA334|MedGen:CN239310	Hypertrichotic_osteochondrodysplasia|not_specified|Familial_atrial_fibrillation|Dilated_Cardiomyopathy,_Dominant	Conflicting_interpretations_of_pathogenicity	0.0009	.	intronic	.	0.0013	0.0008	0.0003	0.5
chr12	22005167	ABCC9	C	T	3	0.00259585	.	Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517|MedGen:CN169374|MedGen:CN204347,Orphanet:ORPHA334|MedGen:CN239310	Cardiomyopathy|Hypertrichotic_osteochondrodysplasia|not_specified|Familial_atrial_fibrillation|Dilated_Cardiomyopathy,_Dominant	Conflicting_interpretations_of_pathogenicity	0.0093	.	intronic	.	0.0098	0.0096	0.0139	1.5
chr12	22005422	ABCC9	G	A	2	0.00159744	.	EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:C1837839,OMIM:608569|MedGen:CN169374|MedGen:CN230736	Primary_dilated_cardiomyopathy|Dilated_cardiomyopathy_1O|not_specified|Cardiovascular_phenotype	Benign	0.0055	synonymous_SNV	exonic	.	0.0065	0.0054	0.0049	-1
chr12	22016003	ABCC9	AGAAAAAAAAAAACACCAGG	AGAAAAAAAAAACACCAGG	8	0.360423	.	MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517|MedGen:CN169374|MedGen:CN204347,Orphanet:ORPHA334|MedGen:CN239310	Hypertrichotic_osteochondrodysplasia|not_specified|Familial_atrial_fibrillation|Dilated_Cardiomyopathy,_Dominant	Benign/Likely_benign	0.4122	.	intronic\x3bintronic	.	.	0.4112	0.3188	-1.5
chr12	22016004	ABCC9	GAAAAAAAAAAACACCAGG	GAAAAAAAAAACACCAGG,TAAAAAAAAAAACACCAGG,GAAAAAAAAAAAACACCAGG,CAAAAAAAAAAACACCAGG	8	.	.	.	.	.	.	.	intronic	.	.	.	.	4
chr12	22017410	ABCC9	C	T	3	0.00399361	2.389	Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001658,MedGen:C0027051,SNOMED_CT:22298006|MedGen:C1837839,OMIM:608569|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202	Cardiomyopathy|Myocardial_infarction|Dilated_cardiomyopathy_1O|not_specified|Cardiovascular_phenotype|not_provided	Benign/Likely_benign	0.0107	nonsynonymous_SNV	exonic	T	0.0132	0.0115	0.0089	-1.5
chr12	22017422	ABCC9	AGC	GGC	230	0.998203	.	MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517|MedGen:CN169374|MedGen:CN204347,Orphanet:ORPHA334|MedGen:CN239310	Hypertrichotic_osteochondrodysplasia|not_specified|Familial_atrial_fibrillation|Dilated_Cardiomyopathy,_Dominant	Benign/Likely_benign	1	.	intronic	.	1	1	1	-1.5
chr12	22017476	ABCC9	C	T	1	.	.	.	.	.	.	.	intronic	.	.	.	0.0002	2
chr12	22017482	ABCC9	GTAAC	GTAAG,TTAAC	1	.	.	.	.	.	.	.	intronic	.	.	.	.	2
chr12	22017486	ABCC9	C	G	228	0.998203	.	.	.	.	.	.	intronic	.	1	.	1	-1
chr12	22035732	ABCC9	G	A	1	.	4.864	MedGen:CN169374	not_specified	Uncertain_significance	7.494e-05	nonsynonymous_SNV	exonic	D	0.0002	0.0001	0.0003	2
chr12	22040868	ABCC9	A	G	1	.	.	.	.	.	3.015e-05	synonymous_SNV	exonic	.	.	1.804e-05	.	2
chr12	22063112	ABCC9	ATTA	ATTG,TTTA	1	.	4.560	.	.	.	.	nonsynonymous_SNV	exonic	D	.	.	.	3
chr12	22063113	ABCC9	TTA	TTG,ATA	1	.	6.252	.	.	.	.	nonsynonymous_SNV	exonic	D	.	.	.	4
chr12	22063114	ABCC9	TA	TG	2	.	.	.	.	.	.	frameshift_deletion\x3bframeshift_deletion\x3bframeshift_deletion	exonic\x3bexonic\x3bexonic	.	.	.	.	2
chr12	22063115	ABCC9	AGGA	GGGA	224	0.997204	.	MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517|MedGen:CN169374|MedGen:CN204347,Orphanet:ORPHA334|MedGen:CN230736|MedGen:CN239310	Hypertrichotic_osteochondrodysplasia|not_specified|Familial_atrial_fibrillation|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant	Benign/Likely_benign	1.0000	synonymous_SNV	exonic	.	1	1	1	-1.5
chr12	22063251	ABCC9	CAAAAAAAAAAAAAAG	CAAAAAAAAAAAAAG	65	0.375799	.	Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517|MedGen:CN169374|MedGen:CN204347,Orphanet:ORPHA334|MedGen:CN239310	Cardiomyopathy|Hypertrichotic_osteochondrodysplasia|not_specified|Familial_atrial_fibrillation|Dilated_Cardiomyopathy,_Dominant	Benign/Likely_benign	0.4473	.	intronic	.	.	0.4459	0.4674	-1.5
chr12	22063749	ABCC9	T	C	230	0.991613	.	MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517|MedGen:CN169374|MedGen:CN204347,Orphanet:ORPHA334|MedGen:CN239310	Hypertrichotic_osteochondrodysplasia|not_specified|Familial_atrial_fibrillation|Dilated_Cardiomyopathy,_Dominant	Benign/Likely_benign	0.9998	.	intronic	.	0.9998	0.9999	0.9997	-1.5
chr12	22066006	ABCC9	GAAAAAAAAAAG	TAAAAAAAAAAG,GAAAAAAAAAG	230	.	.	.	.	.	0.0229	.	intronic	.	0.0198	0.0199	0.0168	-1
chr12	22068591	ABCC9	C	T	1	0.000399361	.	MedGen:CN169374	not_specified	Likely_benign	0.0001	.	intronic	.	0.0001	0.0002	.	1
chr12	22068849	ABCC9	G	T	141	0.644768	.	MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517|MedGen:CN169374|MedGen:CN204347,Orphanet:ORPHA334|MedGen:CN230736|MedGen:CN239310	Hypertrichotic_osteochondrodysplasia|not_specified|Familial_atrial_fibrillation|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant	Benign/Likely_benign	0.6025	.	intronic	.	0.5925	0.5915	0.5917	-1.5
chr12	22070051	ABCC9	G	T	1	0.000798722	.	MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517|MedGen:CN169374|MedGen:CN204347,Orphanet:ORPHA334|MedGen:CN239310	Hypertrichotic_osteochondrodysplasia|not_specified|Familial_atrial_fibrillation|Dilated_Cardiomyopathy,_Dominant	Conflicting_interpretations_of_pathogenicity	0.0042	.	intronic	.	0.0040	0.0040	0.0042	0.5
chr12	22078910	ABCC9	A	G	1	.	.	MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517|MedGen:C1837839,OMIM:608569|MedGen:CN169374|MedGen:CN204347,Orphanet:ORPHA334|MedGen:CN230736|MedGen:CN239310	Hypertrichotic_osteochondrodysplasia|Dilated_cardiomyopathy_1O|not_specified|Familial_atrial_fibrillation|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant	Conflicting_interpretations_of_pathogenicity	0.0012	synonymous_SNV	exonic	.	0.0010	0.0013	0.0018	0.5
chr12	22079020	ABCC9	G	A	1	0.00179712	.	.	.	.	0.0031	.	intronic	.	0.0035	0.0038	0.0040	0
chr12	22089561	ABCC9	G	A	1	.	.	MedGen:C1837839,OMIM:608569|MedGen:CN169374	Dilated_cardiomyopathy_1O|not_specified	Likely_benign	0.0001	synonymous_SNV	exonic	.	.	9.87e-05	0	1.5
chr12	25362777	KRAS	A	G	49	0.175519	.	MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:C1275081,Orphanet:ORPHA1340,SNOMED_CT:403770008|MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374	Noonan_syndrome|Cardio-facio-cutaneous_syndrome|Rasopathy|not_specified	Benign	0.2216	synonymous_SNV	exonic	.	0.2160	0.2223	0.2119	-1
chr12	25362854	KRAS	C	T	1	0.0836661	.	MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:C1275081,Orphanet:ORPHA1340,SNOMED_CT:403770008|MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374	Noonan_syndrome|Cardio-facio-cutaneous_syndrome|Rasopathy|not_specified	Benign/Likely_benign	0.0060	.	intronic	.	0.0049	0.0044	0.0030	-1
chr12	25368434	KRAS	T	A	1	.	2.061	.	.	.	.	nonsynonymous_SNV	exonic	T	.	.	.	2
chr12	25368462	KRAS	C	T	230	0.997604	.	MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374	Rasopathy|not_specified	Benign	1	synonymous_SNV	exonic	.	1	1	1	-1
chr12	25380209	KRAS	G	A	1	.	.	MedGen:CN166718,Orphanet:ORPHA98733	Rasopathy	Likely_benign	6.028e-05	synonymous_SNV	exonic	.	.	4.488e-05	.	2
chr12	32945486	PKP2	G	T	5	0.0339457	.	.	.	.	.	.	intronic	.	0.0283	.	0.0253	-1
chr12	32945495	PKP2	C	T	154	0.450479	.	.	.	.	.	.	intronic	.	.	.	0.6571	-1
chr12	32949029	PKP2	ACT	AGCT	25	0.318291	.	MedGen:C1836906,OMIM:609040|MedGen:CN169374|MedGen:CN239181	Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified|Cardiomyopathy,_ARVC	Benign/Likely_benign	0.1396	.	intronic	.	0.1393	0.1401	0.1401	-1
chr12	32949101	PKP2	G	T	2	0.000599042	7.211	MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1836906,OMIM:609040|MedGen:CN169374|MedGen:CN221565|MedGen:CN230736	Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified|Arrhythmogenic_right_ventricular_dysplasia/cardiomyopathy|Cardiovascular_phenotype	Conflicting_interpretations_of_pathogenicity	0.0012	nonsynonymous_SNV	exonic	T	0.0006	0.0010	0.0005	1
chr12	32949251	PKP2	AACA	AA,AAA	2	0.304912	.	MedGen:CN169374	not_specified	Benign	0.1115	.	intronic\x3bintronic	.	0.1207	0.0915	0.1204	-1
chr12	32949252	PKP2	ACA	AA,AAA	2	.	.	.	.	.	0.0198	.	intronic	.	.	0.0092	0.0007	-1
chr12	32955330	PKP2	G	A	4	0.0716853	.	MedGen:C1836906,OMIM:609040|MedGen:CN169374|MedGen:CN239181	Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified|Cardiomyopathy,_ARVC	Benign/Likely_benign	0.0133	.	intronic	.	0.0117	0.0125	0.0099	-1
chr12	32974345	PKP2	T	C	1	.	4.047	.	.	.	2.998e-05	nonsynonymous_SNV	exonic	T	.	1.791e-05	.	2
chr12	32974352	PKP2	G	A	1	0.000199681	7.044	EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:C1836906,OMIM:609040|MedGen:CN169374|MedGen:CN230736	Primary_dilated_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified|Cardiovascular_phenotype	Uncertain_significance	0.0002	nonsynonymous_SNV	exonic	D	.	0.0002	6.664e-05	3
chr12	32994073	PKP2	G	A	1	0.00379393	0.934	MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1836906,OMIM:609040|MedGen:CN169374|MedGen:CN221565|MedGen:CN230736	Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified|Arrhythmogenic_right_ventricular_dysplasia/cardiomyopathy|Cardiovascular_phenotype	Conflicting_interpretations_of_pathogenicity	0.0025	nonsynonymous_SNV	exonic	T	0.0023	0.0027	0.0016	0
chr12	33003706	PKP2	T	C	1	0.00159744	4.775	MedGen:C1836906,OMIM:609040|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202	Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified|Cardiovascular_phenotype|not_provided	Conflicting_interpretations_of_pathogenicity	6.005e-05	nonsynonymous_SNV	exonic	T	.	4.498e-05	0	0
chr12	33021868	PKP2	C	T	1	.	7.091	.	.	.	0	nonsynonymous_SNV	exonic	T	.	8.956e-06	0	3
chr12	33021934	PKP2	A	G	44	0.151358	0.112	MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1836906,OMIM:609040|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181	Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC	Benign/Likely_benign	0.2099	nonsynonymous_SNV	exonic	T	0.2301	0.2200	0.2192	-1
chr12	33030802	PKP2	T	C	1	0.000998403	-1.051	MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C1836906,OMIM:609040|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181	Arrhythmogenic_right_ventricular_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC	Conflicting_interpretations_of_pathogenicity	0.0029	nonsynonymous_SNV	exonic	T	0.0022	0.0010	0.0007	0
chr12	33031395	PKP2	G	A	1	0.00119808	2.985	MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1836906,OMIM:609040|MedGen:CN169374|MedGen:CN230736|MedGen:CN232456	Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified|Cardiovascular_phenotype|Dysplasia,_arrhythmogenic_right_ventricular	Conflicting_interpretations_of_pathogenicity	0.0033	nonsynonymous_SNV	exonic	T	0.0029	0.0037	0.0027	0
chr12	33031884	PKP2	G	T	1	.	.	MedGen:C1836906,OMIM:609040|MedGen:CN169374|MedGen:CN239181	Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified|Cardiomyopathy,_ARVC	Conflicting_interpretations_of_pathogenicity	0.0006	synonymous_SNV	exonic	.	0.0002	0.0004	.	0
chr12	33049457	PKP2	C	A	7	0.0131789	3.446	MedGen:C1836906,OMIM:609040|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181	Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC	Benign/Likely_benign	0.0289	nonsynonymous_SNV	exonic	T	0.0261	0.0260	0.0297	-1
chr12	33049482	PKP2	G	T	1	.	3.114	MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1836906,OMIM:609040|MedGen:CN169374	Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified	Conflicting_interpretations_of_pathogenicity	0.0003	nonsynonymous_SNV	exonic	T	0.0004	0.0003	0.0005	1
chr12	33049590	PKP2	C	T	2	0.00299521	6.871	MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1836906,OMIM:609040|MedGen:CN169374|MedGen:CN230736|MedGen:CN232456|MedGen:CN239181|MedGen:CN517202	Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified|Cardiovascular_phenotype|Dysplasia,_arrhythmogenic_right_ventricular|Cardiomyopathy,_ARVC|not_provided	Benign/Likely_benign	0.0231	nonsynonymous_SNV	exonic	D	0.0068	0.0097	0.0077	1
chr12	98926748	TMPO	T	G	1	0.0191693	2.731	Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C2674876,OMIM:610168|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310	Cardiomyopathy|Loeys-Dietz_syndrome_2|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant	Benign/Likely_benign	0.0004	nonsynonymous_SNV	exonic	T	0.0006	0.0004	0.0004	-1.5
chr12	98926863	TMPO	GTTTATTTC	GTTATTTC	1	.	.	.	.	.	.	frameshift_deletion	exonic	.	.	.	.	2
chr12	98926912	TMPO	T	G	1	0.0191693	2.192	Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C2674876,OMIM:610168|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310	Cardiomyopathy|Loeys-Dietz_syndrome_2|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant	Benign/Likely_benign	0.0004	nonsynonymous_SNV	exonic	T	0.0006	0.0004	0.0004	-1.5
chr12	98926985	TMPO	C	G	1	0.0299521	3.863	Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C2674876,OMIM:610168|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310	Cardiomyopathy|Loeys-Dietz_syndrome_2|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant	Benign/Likely_benign	0.0013	nonsynonymous_SNV	exonic	T	0.0017	0.0007	0.0012	-1.5
chr12	98927469	TMPO	G	C	1	0.0191693	-0.265	Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C2674876,OMIM:610168|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310	Cardiomyopathy|Loeys-Dietz_syndrome_2|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant	Benign/Likely_benign	0.0004	nonsynonymous_SNV	exonic	T	0.0006	0.0004	0.0004	-1.5
chr12	98927830	TMPO	C	G	26	0.0589058	1.914	MedGen:CN169374|MedGen:CN230736|MedGen:CN239310	not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant	Benign/Likely_benign	0.0989	nonsynonymous_SNV	exonic	T	0.0965	0.0986	0.0957	-1.5
chr12	98938323	TMPO	T	C	1	.	.	.	.	.	.	.	intronic	.	.	.	.	2
chr12	98940133	TMPO	T	C	1	0.0191693	.	MedGen:CN169374	not_specified	Benign	0.0004	.	intronic	.	0.0006	0.0004	0.0004	-1
chr12	98940228	TMPO	ATT	ATTT	9	.	.	.	.	.	.	.	intronic	.	.	.	.	4
chr12	111350999	MYL2	G	A,T	9	0.00439297	.	.	.	.	0.0142	.	intronic	.	.	0.0155	0.0181	-1
chr12	111351002	MYL2	CAG	CG	1	0.0449281	.	.	.	.	0.0004	.	intronic	.	0.0005	0.0004	0.0002	-1
chr12	111351003	MYL2	AGGGGGC	AGGGGGGC	14	0.10024	.	MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN169374|MedGen:CN517202	Primary_familial_hypertrophic_cardiomyopathy|not_specified|not_provided	Benign	0.0702	.	intronic	.	0.0664	0.0653	0.0729	-1
chr12	111351029	MYL2	TCCCCCACAG	TCCCCACAG,ACCCCCACAG,GCCCCCACAG	14	.	.	.	.	.	.	.	intronic	.	.	.	.	4
chr12	111351140	MYL2	C	T	1	.	.	Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374	Hypertrophic_cardiomyopathy|not_specified	Conflicting_interpretations_of_pathogenicity	2.999e-05	.	intronic	.	.	5.371e-05	6.667e-05	2
chr12	111351186	MYL2	C	T	14	0.102636	.	MedGen:CN517202	not_provided	not_provided	.	.	intronic	.	0.0644	.	0.0727	-1
chr12	111351963	MYL2	G	C	1	.	.	.	.	.	.	.	intronic	.	.	0	.	2
chr12	111351973	MYL2	CA	CAGA	2	.	.	.	.	.	.	.	intronic	.	.	.	.	2
chr12	111353556	MYL2	A	G	17	0.115216	.	Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1834460,OMIM:608758|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202	Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_10|not_specified|Cardiovascular_phenotype|not_provided	Benign/Likely_benign	0.0848	synonymous_SNV	exonic	.	0.0801	0.0873	0.0908	-1
chr12	111357011	MYL2	G	A	1	0.0445288	.	Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1834460,OMIM:608758|MedGen:CN169374	Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_10|not_specified	Benign/Likely_benign	0.0004	.	intronic	.	0.0005	0.0004	0.0004	-1
chr12	111358266	MYL2	C	T	1	0.0155751	.	.	.	.	.	.	intronic	.	0.0116	.	0.0145	-1
chr12	112856954	PTPN11	G	C	3	0.0632987	.	MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:CN169374	Noonan_syndrome|not_specified	Benign	0.0111	.	intronic	.	.	0.0139	0.0180	-1
chr12	112891203	PTPN11	G	C	2	0.00599042	.	MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374	Noonan_syndrome|Rasopathy|not_specified	Benign	0.0145	.	intronic	.	0.0127	0.0155	0.0147	-1
chr12	112910815	PTPN11	A	C	1	.	1.802	.	.	.	3.048e-05	nonsynonymous_SNV	exonic	T	.	6.509e-05	.	2
chr12	112915434	PTPN11	C	T	13	0.0365415	.	MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:CN169374	Noonan_syndrome|not_specified	Benign	0.0790	.	intronic	.	0.0741	0.0820	0.0795	-1
chr12	112915480	PTPN11	C	T	1	.	.	MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374	Rasopathy|not_specified	Benign	7.492e-05	synonymous_SNV	exonic	.	.	4.478e-05	0	2
chr12	112919869	PTPN11	C	A	3	0.0429313	.	MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:C0175704,Orphanet:ORPHA500|MedGen:C0410530,OMIM:156250,Orphanet:ORPHA2499,SNOMED_CT:205481009|MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374	Noonan_syndrome|Noonan_syndrome_with_multiple_lentigines|Metachondromatosis|Rasopathy|not_specified	Benign/Likely_benign	0.0105	.	intronic	.	0.0107	0.0109	0.0166	-1
chr12	112924312	PTPN11	T	C	1	.	6.219	.	.	.	.	nonsynonymous_SNV\x3bnonsynonymous_SNV	exonic\x3bexonic	D	.	.	.	2
chr12	114823243	TBX5	A	G	1	.	.	.	.	.	0.0004	.	intronic	.	0.0007	0.0004	0.0003	0
chr12	114823318	TBX5	C	G	1	.	6.571	.	.	.	.	nonsynonymous_SNV	exonic	D	.	.	.	4
chr12	114836450	TBX5	C	G	1	.	.	.	.	.	8.489e-05	synonymous_SNV	exonic	.	.	6.32e-05	.	2
chr14	23851325	MYH6	G	A	1	0.0485224	.	.	.	.	.	.	intronic	.	0.0041	.	0.0043	-1
chr14	23852497	MYH6	T	C	1	0.0848642	.	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	Atrial_septal_defect|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant	Benign/Likely_benign	0.0035	synonymous_SNV	exonic	.	0.0069	0.0041	0.0046	-1.5
chr14	23853702	MYH6	C	T	1	.	.	.	.	.	.	synonymous_SNV	exonic	.	.	8.954e-06	.	2
chr14	23854155	MYH6	G	A	18	0.0363419	.	Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310	Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant	Benign/Likely_benign	0.1066	synonymous_SNV	exonic	.	0.1158	0.1089	0.1111	-1.5
chr14	23854272	MYH6	T	C	21	0.072484	.	MedGen:CN169374	not_specified	Benign	0.0877	.	intronic	.	0.0844	0.0831	0.0785	-1
chr14	23855314	MYH6	C	T	1	0.00339457	.	MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN230736	Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype	Benign/Likely_benign	0.0004	synonymous_SNV	exonic	.	0.0002	0.0004	0.0004	0
chr14	23855320	MYH6	G	A	18	0.0365415	.	Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310	Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant	Benign/Likely_benign	0.1067	synonymous_SNV	exonic	.	0.1159	0.1090	0.1111	-1.5
chr14	23855349	MYH6	C	T	1	0.00179712	.	Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN239310	Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant	Conflicting_interpretations_of_pathogenicity	1.503e-05	.	intronic	.	.	8.968e-06	0	0.5
chr14	23855357	MYH6	T	A	1	0.0489217	.	Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:CN169374	Cardiomyopathy|not_specified	Conflicting_interpretations_of_pathogenicity	0.0033	.	intronic	.	0.0059	0.0039	0.0043	-1
chr14	23855569	MYH6	A	G	114	0.492812	.	Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310	Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant	Benign/Likely_benign	0.4821	synonymous_SNV	exonic	.	0.4855	0.4772	0.4524	-1.5
chr14	23855645	MYH6	A	G	1	0.048722	1.714	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	Atrial_septal_defect|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant	Benign/Likely_benign	0.0031	nonsynonymous_SNV	exonic	T	0.0019	0.0031	0.0045	-1.5
chr14	23855705	MYH6	T	A	1	0.0491214	1.421	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	Atrial_septal_defect|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant	Benign/Likely_benign	0.0032	nonsynonymous_SNV	exonic	T	0.0034	0.0031	0.0042	-1.5
chr14	23855844	MYH6	T	G	3	0.00419329	.	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:CN169374|MedGen:CN239310	Atrial_septal_defect|Cardiomyopathy|Hypertrophic_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant	Conflicting_interpretations_of_pathogenicity	0	.	intronic	.	.	0	0	1.5
chr14	23855849	MYH6	C	T,G	3	.	.	.	.	.	.	.	intronic	.	.	.	.	3
chr14	23856714	MYH6	G	A	11	0.019369	.	.	.	.	0.0409	.	intronic	.	0.0417	0.0379	0.0341	-1
chr14	23856861	MYH6	C	T	1	0.0325479	.	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	Atrial_septal_defect|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant	Benign/Likely_benign	0.0034	synonymous_SNV	exonic	.	0.0057	0.0040	0.0043	-1.5
chr14	23857351	MYH6	G	A	74	0.419728	.	Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN239310	Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant	Benign/Likely_benign	0.3592	.	intronic	.	0.3660	0.3605	0.3456	-1.5
chr14	23857531	MYH6	G	A	1	.	4.078	.	.	.	3.005e-05	nonsynonymous_SNV	exonic	D	0.0001	2.687e-05	0.0002	3
chr14	23858099	MYH6	T	C	2	.	3.514	MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005	Primary_familial_hypertrophic_cardiomyopathy	Uncertain_significance	.	nonsynonymous_SNV	exonic	D	.	.	.	3
chr14	23858232	MYH6	C	T	17	0.0347444	.	Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310	Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant	Benign/Likely_benign	0.1103	synonymous_SNV	exonic	.	0.1172	0.1116	0.1166	-1.5
chr14	23858270	MYH6	GAGGGGGGGGGGCACC	GAGGGGGGGGCACC	2	.	.	MedGen:C2750467,OMIM:613251|MedGen:CN169374	Familial_hypertrophic_cardiomyopathy_14|not_specified	Benign	0.1486	.	intronic\x3bintronic	.	.	0.1598	0.1710	-1
chr14	23858271	MYH6	AGGGGGGGGGGCACC	AGGGGGGGGGCACC,AGGCGGGGGCACC,AGGGGGGGGCACC,AGGGGGGGGGGCCCC,AGGGCGGGGGGCACC,AGGGGGGGGGGGCACC,GGGGGGGGGGGCACC,CGGGGGGGGGGCACC	2	.	.	MedGen:C2750467,OMIM:613251	Familial_hypertrophic_cardiomyopathy_14	Likely_benign	0	.	intronic	.	.	0	0.0002	2
chr14	23858272	MYH6	G	A	1	0.0119808	.	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:CN239310	Atrial_septal_defect|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_14|not_specified|Dilated_Cardiomyopathy,_Dominant	Benign/Likely_benign	0.0021	.	intronic	.	.	0.0004	0.0004	-1.5
chr14	23858275	MYH6	G	C	1	0.0279553	.	Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN239310	Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant	Benign/Likely_benign	0.0073	.	intronic\x3bintronic	.	.	0.0073	0.0074	-1.5
chr14	23858697	MYH6	C	G	1	0.00419329	6.301	MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202	Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype|not_provided	Benign/Likely_benign	0.0026	nonsynonymous_SNV	exonic	D	0.0044	0.0029	0.0027	2
chr14	23858875	MYH6	G	A	1	.	.	.	.	.	7.493e-05	synonymous_SNV	exonic	.	.	4.476e-05	.	2
chr14	23859425	MYH6	G	A	1	.	.	MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN230736	Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype	Benign/Likely_benign	0.0011	synonymous_SNV	exonic	.	.	0.0008	0.0018	0
chr14	23859610	MYH6	C	T	33	0.0728834	5.149	Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310	Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant	Benign/Likely_benign	0.1217	nonsynonymous_SNV	exonic	T	.	0.1183	0.1101	-0.5
chr14	23859657	MYH6	TGG	TG	1	.	.	.	.	.	.	.	intronic	.	.	.	.	2
chr14	23861811	MYH6	A	G	95	0.3748	0.873	Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310	Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant	Benign/Likely_benign	0.3635	nonsynonymous_SNV	exonic	T	0.3737	0.3631	0.3678	-1.5
chr14	23862710	MYH6	C	T	3	0.00419329	.	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	Atrial_septal_defect|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant	Benign/Likely_benign	0.0129	synonymous_SNV	exonic	.	0.0120	0.0113	0.0151	-1.5
chr14	23863371	MYH6	G	A	1	.	2.181	MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN517202	Primary_familial_hypertrophic_cardiomyopathy|not_provided	Conflicting_interpretations_of_pathogenicity	2.997e-05	nonsynonymous_SNV	exonic	T	.	7.162e-05	6.666e-05	2
chr14	23865885	MYH6	G	A	91	0.367812	.	MedGen:CN169374	not_specified	Benign	0.3548	.	intronic	.	0.3628	0.3529	0.3604	-1
chr14	23866146	MYH6	G	C	9	0.0325479	.	.	.	.	0.0144	.	intronic	.	0.0124	0.0122	0.0097	-1
chr14	23866189	MYH6	G	A	9	0.0339457	.	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	Atrial_septal_defect|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant	Benign/Likely_benign	0.0146	synonymous_SNV	exonic	.	0.0127	0.0124	0.0097	-1.5
chr14	23867953	MYH6	G	A	1	.	.	MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN230736	Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype	Likely_benign	0.0001	synonymous_SNV	exonic	.	0.0003	0.0001	0.0003	1
chr14	23869993	MYH6	G	A	20	0.0321486	.	Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310	Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant	Benign/Likely_benign	0.0668	synonymous_SNV	exonic	.	0.0620	0.0639	0.0547	-1.5
chr14	23871692	MYH6	C	T	1	0.000199681	.	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	Atrial_septal_defect|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant	Conflicting_interpretations_of_pathogenicity	0.0017	synonymous_SNV	exonic	.	0.0013	0.0016	0.0021	0.5
chr14	23871909	MYH6	G	A	4	0.0423323	.	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	Atrial_septal_defect|Cardiomyopathy|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant	Benign/Likely_benign	0.0102	synonymous_SNV	exonic	.	0.0087	0.0092	0.0061	-1.5
chr14	23872662	MYH6	TGGGT	TGGGC,GGGGT	4	0.000399361	.	.	.	.	1.499e-05	.	intronic	.	.	8.955e-06	.	2
chr14	23872663	MYH6	GGGT	GGGC	14	.	.	.	.	.	.	.	intronic\x3bintronic\x3bintronic\x3bintronic	.	.	.	.	4
chr14	23872664	MYH6	GGT	GGC	2	.	.	.	.	.	.	.	intronic\x3bintronic\x3bintronic\x3bintronic	.	.	.	.	2
chr14	23872665	MYH6	GT	GC	2	.	.	.	.	.	.	.	intronic\x3bintronic\x3bintronic\x3bintronic	.	.	.	.	2
chr14	23872666	MYH6	T	C,G	2	.	.	.	.	.	.	.	intronic	.	.	.	.	2
chr14	23873021	MYH6	C	T	9	0.0455272	.	.	.	.	0.0377	.	intronic	.	0.0364	0.0340	0.0294	-1
chr14	23873532	MYH6	A	G	1	.	.	.	.	.	.	synonymous_SNV	exonic	.	.	.	.	2
chr14	23873602	MYH6	G	A	1	.	.	MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN230736	Primary_familial_hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype	Conflicting_interpretations_of_pathogenicity	0.0006	.	intronic	.	0.0008	0.0006	0.0011	0
chr14	23873940	MYH6	C	T	2	0.00199681	3.478	MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN230736	Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype	Benign/Likely_benign	0.0082	nonsynonymous_SNV	exonic	T	0.0069	0.0080	0.0058	0
chr14	23874507	MYH6	G	T	33	0.0776757	.	Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310	Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant	Benign/Likely_benign	0.1055	synonymous_SNV	exonic	.	0.1095	0.1041	0.0996	-1.5
chr14	23874523	MYH6	C	T	59	0.154353	.	Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310	Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant	Benign/Likely_benign	0.2607	synonymous_SNV	exonic	.	0.2608	0.2581	0.2614	-1.5
chr14	23874541	MYH6	C	T	21	0.0571086	.	Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310	Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant	Benign/Likely_benign	0.0824	synonymous_SNV	exonic	.	0.0884	0.0829	0.0862	-1.5
chr14	23876216	MYH6	G	A	9	0.0497204	.	MedGen:CN169374	not_specified	Benign	0.0298	.	intronic	.	0.0364	0.0329	0.0297	-1
chr14	23876267	MYH6	C	T	20	0.0567093	5.156	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	Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided	Benign/Likely_benign	0.0824	nonsynonymous_SNV	exonic	T	0.0883	0.0829	0.0860	-0.5
chr14	23882144	MYH7	T	C,G	20	.	.	.	.	.	.	.	intronic	.	.	.	.	4
chr14	23883021	MYH7	C	G	1	.	7.274	.	.	.	.	nonsynonymous_SNV	exonic	D	.	.	.	4
chr14	23883184	MYH7	C	T	28	0.134984	.	MedGen:CN169374	not_specified	Benign	0.1570	.	intronic	.	0.1524	0.1562	0.1659	-1
chr14	23884353	MYH7	C	T	1	.	7.265	MedGen:CN517202	not_provided	Pathogenic	.	nonsynonymous_SNV	exonic	D	.	8.952e-06	.	4
chr14	23884889	MYH7	C	T	29	0.117612	.	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	Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant	Benign	0.1175	synonymous_SNV	exonic	.	0.1317	0.1224	0.1213	-2
chr14	23885441	MYH7	C	T	1	.	.	MedGen:CN169374	not_specified	Likely_benign	4.497e-05	synonymous_SNV	exonic	.	.	5.375e-05	.	2
chr14	23886053	MHRT	C	A	2	0.00179712	.	MedGen:CN169374	not_specified	Uncertain_significance	0.0041	.	ncRNA_intronic	.	0.0031	0.0043	0.0061	0
chr14	23886155	MYH7	A	G	4	0.0111821	.	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	Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant	Benign	0.0086	synonymous_SNV	exonic	.	0.0067	0.0083	0.0142	-2
chr14	23886226	MHRT	G	A	2	0.00359425	.	Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374	Hypertrophic_cardiomyopathy|not_specified	Benign/Likely_benign	0.0100	.	ncRNA_intronic	.	0.0128	0.0108	0.0115	-1
chr14	23886383	MYH7	G	A	1	.	6.811	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:CN230736	Primary_dilated_cardiomyopathy|Hypertrophic_cardiomyopathy|Cardiovascular_phenotype	Pathogenic/Likely_pathogenic	.	nonsynonymous_SNV	exonic	D	.	.	.	5
chr14	23886409	MYH7	G	C	4	0.00519169	3.122	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	Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant	Benign	0.0105	nonsynonymous_SNV	exonic	T	0.0115	0.0127	0.0111	-2
chr14	23886765	MYH7	G	A	1	.	7.390	Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374	Hypertrophic_cardiomyopathy|not_specified	Conflicting_interpretations_of_pathogenicity	.	nonsynonymous_SNV	exonic	D	.	.	.	4
chr14	23886775	MYH7	C	A	2	.	.	Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374	Hypertrophic_cardiomyopathy|not_specified	Benign/Likely_benign	0.0001	synonymous_SNV	exonic	.	0.0001	9.85e-05	6.671e-05	2
chr14	23886838	MYH7	G	C	1	.	.	MedGen:CN169374	not_specified	Likely_benign	4.496e-05	synonymous_SNV	exonic	.	0.0001	2.686e-05	.	2
chr14	23886855	MYH7	C	T	1	.	4.676	Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374	Hypertrophic_cardiomyopathy|not_specified	Uncertain_significance	2.999e-05	nonsynonymous_SNV	exonic	D	.	5.372e-05	0.0001	3
chr14	23888371	MYH7	G	A	1	0.00459265	.	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	Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Dilated_Cardiomyopathy,_Dominant	Benign/Likely_benign	0.0160	.	intronic	.	0.0135	0.0158	0.0207	-1.5
chr14	23888671	MYH7	G	A	1	0.00179712	.	MedGen:CN169374	not_specified	Uncertain_significance	0.0054	.	intronic	.	0.0043	0.0049	0.0055	0
chr14	23889429	MYH7	C	T	1	0.00119808	.	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	Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant	Benign	0.0038	synonymous_SNV	exonic	.	0.0039	0.0037	0.0031	-1
chr14	23889445	MYH7	TGGTC	TGGGTC	20	0.0403355	.	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:C2751898,OMIM:603829|MedGen:C3495498,OMIM:192600|MedGen:CN074249,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310	Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Paroxysmal_familial_ventricular_fibrillation_1|Familial_hypertrophic_cardiomyopathy_1|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant	Benign	0.0027	.	splicing	.	.	0.0129	0.0704	2
chr14	23891477	MYH7	G	A	1	.	6.193	.	.	.	.	nonsynonymous_SNV	exonic	D	.	.	.	4
chr14	23891481	MYH7	C	T	3	0.00319489	.	Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3495498,OMIM:192600|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202	Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|not_specified|Cardiovascular_phenotype|not_provided	Benign	0.0073	synonymous_SNV	exonic	.	0.0077	0.0093	0.0091	1
chr14	23892888	MYH7	A	G	85	0.376398	.	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	Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant	Benign	0.3270	synonymous_SNV	exonic	.	0.3288	0.3225	0.3257	-2
chr14	23892950	MYH7	C	T	2	0.0507188	.	MedGen:CN169374	not_specified	Benign	0.0007	.	intronic	.	0.0009	0.0008	0.0007	-1
chr14	23895025	MYH7	T	C	1	.	5.554	.	.	.	.	nonsynonymous_SNV	exonic	D	.	.	.	4
chr14	23897077	MYH7	T	C	2	0.0329473	.	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	Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant	Benign	0.0005	synonymous_SNV	exonic	.	0.0009	0.0006	0.0005	-2
chr14	23898994	MYH7	G	A	20	0.15615	.	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	Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant	Benign	0.0794	synonymous_SNV	exonic	.	0.0867	0.0801	0.0785	-2
chr14	23899027	MYH7	C	T	28	0.0796725	.	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	Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant	Benign	0.1567	synonymous_SNV	exonic	.	0.1513	0.1551	0.1635	-2
chr14	23899060	MYH7	G	A	26	0.0638978	.	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	Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant	Benign	0.0779	synonymous_SNV	exonic	.	0.0795	0.0767	0.0738	-2
chr14	23899793	MYH7	G	A	16	0.0145767	.	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	Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant	Benign	0.0292	synonymous_SNV	exonic	.	0.0290	0.0281	0.0232	-2
chr14	23900093	MYH7	C	T	10	0.0471246	.	MedGen:CN169374	not_specified	Likely_benign	0.0095	.	intronic	.	0.0091	0.0080	0.0064	-1
chr14	23900794	MYH7	G	A	48	0.263778	.	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	Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant	Benign	0.1618	synonymous_SNV	exonic	.	0.1680	0.1604	0.1547	-2
chr14	23901012	MYH7	T	C	5	0.00579073	.	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	Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant	Benign	0.0152	synonymous_SNV	exonic	.	0.0147	0.0157	0.0127	-2
chr14	23902321	MYH7	T	C	1	.	2.694	.	.	.	.	nonsynonymous_SNV	exonic	T	.	.	.	2
chr14	23902753	MYH7	G	A	124	0.520367	.	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	Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant	Benign	0.4780	synonymous_SNV	exonic	.	0.4841	0.4796	0.4778	-2
chr14	73637578	PSEN1	G	A	1	.	1.911	.	.	.	0	nonsynonymous_SNV	exonic	D	.	0	.	3
chr14	73664718	PSEN1	T	C	23	0.0189696	.	.	.	.	0.0703	.	intronic	.	0.0523	0.0552	0.0516	-1
chr14	73664853	PSEN1	G	T	139	0.671526	.	MedGen:CN169374	not_specified	Benign	0.5730	.	intronic	.	0.5613	0.5520	0.5399	-1
chr14	73673178	PSEN1	A	G	2	0.00559105	2.110	Human_Phenotype_Ontology:HP:0002145,MedGen:C0338451,OMIM:600274,Orphanet:ORPHA282,SNOMED_CT:230270009|MedGen:C0002395,OMIM:104300,SNOMED_CT:26929004|MedGen:C0236642,OMIM:172700,SNOMED_CT:13092008|MedGen:C1843013,OMIM:607822|MedGen:C3151038,OMIM:613737|MedGen:CN043596|MedGen:CN169374|MedGen:CN239310|MedGen:CN517202	Frontotemporal_dementia|Alzheimer's_disease|Pick's_disease|Alzheimer_disease,_type_3|Acne_inversa,_familial,_3|Early-Onset_Familial_Alzheimer_Disease|not_specified|Dilated_Cardiomyopathy,_Dominant|not_provided	Benign/Likely_benign	0.0209	nonsynonymous_SNV	exonic	D	0.0187	0.0186	0.0231	-0.5
chr14	76425517	TGFB3	C	T	1	.	.	.	.	.	2.997e-05	.	UTR3	.	0.0001	4.477e-05	6.661e-05	2
chr14	76425518	TGFB3	G	A	1	.	.	.	.	.	0	.	UTR3	.	.	2.686e-05	6.663e-05	2
chr14	76432050	TGFB3	G	C	2	0.00119808	.	MedGen:CN169374	not_specified	Likely_benign	0.0003	.	intronic	.	0.0003	0.0003	0.0004	0
chr14	90863487	CALM1	GCG	GCA	2	.	.	.	.	.	.	.	UTR5\x3bUTR5	.	.	.	.	2
chr14	90863488	CALM1	CG	CA	10	.	.	.	.	.	.	.	UTR5\x3bUTR5	.	.	.	.	4
chr14	90863489	CALM1	GGCA	AGCA	166	0.716054	.	.	.	.	.	.	UTR5	.	0.8852	.	0.8792	-1
chr14	90863643	CALM1	TTTTGTTTGT	TTTTGT	1	.	.	.	.	.	.	.	intronic	.	.	.	.	2
chr14	90866346	CALM1	C	T	121	0.484425	.	.	.	.	.	.	intronic	.	0.6245	.	0.6196	-1
chr14	90867764	CALM1	A	G	1	0.00159744	.	MedGen:CN169374	not_specified	Likely_benign	0	.	intronic	.	.	0	0	0
chr15	35083494	ACTC1	T	C	1	.	1.818	.	.	.	.	nonsynonymous_SNV	exonic	D	.	.	.	3
chr15	35085501	ACTC1	G	A	1	.	.	MedGen:C2677506,OMIM:612098|MedGen:C2748552,OMIM:612794|MedGen:C3150681,OMIM:613424|MedGen:CN169374	Familial_hypertrophic_cardiomyopathy_11|Atrial_septal_defect_5|Dilated_cardiomyopathy_1R|not_specified	Likely_benign	1.5e-05	synonymous_SNV	exonic	.	.	8.955e-06	.	1.5
chr15	48704843	FBN1	C	T	1	0.000199681	6.215	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:CN517202	Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|not_provided	Conflicting_interpretations_of_pathogenicity	0.0001	nonsynonymous_SNV	exonic	T	0.0001	0.0001	.	2
chr15	48707820	FBN1	G	A	1	0.000599042	2.466	MedGen:CN169374	not_specified	Conflicting_interpretations_of_pathogenicity	0.0001	nonsynonymous_SNV	exonic	T	.	7.184e-05	0.0001	0
chr15	48712876	FBN1	T	G	8	0.0491214	.	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	Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified	Benign	0.0102	.	intronic	.	0.0099	0.0099	0.0082	-1
chr15	48720526	FBN1	G	C	175	0.65595	.	MedGen:CN169374	not_specified	Benign	0.7660	.	intronic	.	0.7771	0.7679	0.7594	-1
chr15	48720652	FBN1	C	T	8	0.0509185	.	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	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	Benign	0.0149	synonymous_SNV	exonic	.	0.0172	0.0155	0.0137	-1
chr15	48722884	FBN1	A	G	8	0.0511182	.	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	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	Benign	0.0149	synonymous_SNV	exonic	.	0.0172	0.0155	0.0137	-1
chr15	48725121	FBN1	T	G	3	0.000798722	.	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	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	Benign/Likely_benign	0.0015	synonymous_SNV	exonic	.	0.0014	0.0012	0.0010	1
chr15	48725206	FBN1	T	A	8	0.0507188	.	MedGen:CN169374	not_specified	Benign	0.0148	.	intronic	.	0.0172	0.0154	0.0137	-1
chr15	48729648	FBN1	T	C	209	0.930112	.	.	.	.	.	.	intronic	.	0.8866	.	0.8599	-1
chr15	48740936	FBN1	GAAAAAAAT	GAAAAAAAAT	8	0.0425319	.	MedGen:CN169374	not_specified	Benign	0.0159	.	intronic	.	0.0177	0.0156	0.0138	-1
chr15	48744908	FBN1	AAGGA	AA	8	.	.	.	.	.	.	.	intronic	.	.	.	.	4
chr15	48755450	FBN1	TAAAAAAAAG	TAAAAAAAAAG	8	0.0477236	.	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	Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified	Benign	0.0103	.	intronic	.	0.0103	0.0100	0.0087	-1
chr15	48760750	FBN1	T	C	8	0.0405351	.	MedGen:CN169374	not_specified	Benign	0.0103	.	intronic	.	0.0101	0.0099	0.0085	-1
chr15	48762982	FBN1	A	T	2	.	.	.	.	.	0.0018	.	intronic	.	0.0024	0.0020	0.0017	0
chr15	48779231	FBN1	GTAAAATAAAATAAAATAAAATAAAATAAAAAAGAAC	GTAAAATAAAATAAAATAAAATAAAAAAGAAC,ATAAAGTAAAATAAAATAAAATAAAATAAAAAAGAAC	2	.	.	.	.	.	.	.	intronic	.	.	.	.	2
chr15	48779402	FBN1	C	T	29	0.196486	.	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	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	Benign	0.1481	.	intronic	.	0.1390	0.1466	0.1557	-1
chr15	48780290	FBN1	T	C	1	.	.	MedGen:CN169374	not_specified	Likely_benign	1.499e-05	.	intronic	.	.	1.791e-05	.	2
chr15	48780353	FBN1	G	A	1	0.00219649	.	MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202	Marfan_syndrome|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|Cardiovascular_phenotype|not_provided	Benign/Likely_benign	0.0098	synonymous_SNV	exonic	.	0.0079	0.0089	0.0111	0
chr15	48782118	FBN1	G	A	1	.	.	.	.	.	.	synonymous_SNV	exonic	.	.	.	.	2
chr15	48782204	FBN1	G	A	1	0.000199681	7.876	MedGen:CN517202	not_provided	Pathogenic	1.499e-05	nonsynonymous_SNV	exonic	D	.	1.79e-05	0	3
chr15	48782235	FBN1	C	T	1	.	.	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	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	Benign/Likely_benign	0.0007	synonymous_SNV	exonic	.	0.0009	0.0003	0.0003	0
chr15	48797307	FBN1	A	G	29	0.296925	.	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	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	Benign	0.1511	synonymous_SNV	exonic	.	0.1420	0.1500	0.1585	-1
chr15	48807637	FBN1	C	T	230	1	.	MedGen:CN169374	not_specified	Benign	1	nonsynonymous_SNV	exonic	.	.	1	1	-1
chr15	48826425	FBN1	GAGAAAAAAAAAAAACTCAT	GAGAAAAAAAAAAACTCAT,TATAAAAAAAAAAAACTCAT,GATAAAAAAAAAAAACTCAT,GAGAAAAAAAAAAAACTAAT,TAGAAAAAAAAAAAACTCAT	230	.	.	.	.	.	.	.	intronic	.	.	.	.	4
chr15	48826426	FBN1	AGAAAAAAAAAAAACTCAT	AGAAAAAAAAAAACTCAT,ATAAAAAAAAAAAACTCAT,AGAAAAAAAAAAAACTAAT	230	.	.	.	.	.	.	.	intronic\x3bintronic	.	.	.	.	4
chr15	48826427	FBN1	GAAAAAAAAAAAAC	GAAAAAAAAAAAC,TAAAAAAAAAAAAC	230	.	.	.	.	.	.	.	intronic\x3bintronic\x3bintronic	.	.	.	.	4
chr15	48888610	FBN1	T	C	9	0.0151757	.	.	.	.	0.0220	.	intronic	.	0.0235	0.0229	0.0194	-1
chr15	48936908	FBN1	T	C	1	0.000199681	2.153	MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374|MedGen:CN517202	Marfan_syndrome|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|not_provided	Conflicting_interpretations_of_pathogenicity	0.0002	nonsynonymous_SNV	exonic	T	0.0003	0.0003	0.0002	1
chr15	63335001	TPM1	A	C	2	.	.	.	.	.	.	.	UTR5	.	.	.	.	2
chr15	63335907	TPM1	C	G	1	0.00419329	.	MedGen:CN169374	not_specified	Benign	0.0035	synonymous_SNV	exonic	.	.	0.0002	6.676e-05	0
chr15	63351736	TPM1	G	A	1	0.00119808	.	MedGen:CN169374	not_specified	Uncertain_significance	0.0005	.	intronic	.	0.0007	0.0004	6.662e-05	0
chr15	63351840	TPM1	C	A	138	0.705671	.	Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202	Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided	Benign/Likely_benign	0.6546	synonymous_SNV	exonic	.	0.6458	0.6527	0.6548	-1.5
chr15	63351873	TPM1	T	C	23	0.0241613	.	Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202	Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided	Conflicting_interpretations_of_pathogenicity	0.0766	synonymous_SNV	exonic	.	0.0713	0.0719	0.0714	-0.5
chr15	63353451	TPM1	A	G	1	0.00259585	.	MedGen:CN169374	not_specified	Benign	0.0005	synonymous_SNV	exonic	.	0.0005	0.0006	0.0005	0
chr15	63354009	TPM1	G	C	2	0.00898562	.	MedGen:CN169374	not_specified	Likely_benign	0.0139	.	intronic	.	0.0128	0.0136	0.0118	-1
chr15	63358029	TPM1	TTTCTTTTTTTTTTTTTTCTCATTGTG	TTTCTTTTTTTTTTTTTCTCATTGTG	2	.	.	.	.	.	.	.	intronic\x3bintronic\x3bintronic	.	.	.	0.1093	2
chr15	63358030	TPM1	TTCTTTTTTTTTTTTTTCTCATTGTG	TTCTTTTTTTTTTTTTCTCATTGTG	2	.	.	.	.	.	.	.	intronic\x3bintronic\x3bintronic	.	.	.	0.1093	2
chr15	63358031	TPM1	TCTTTTTTTTTTTTTTCTCATTGTG	TCTTTTTTTTTTTTTCTCATTGTG	2	.	.	.	.	.	.	.	intronic\x3bintronic\x3bintronic	.	.	.	0.1093	2
chr15	63358047	TPM1	C	A	3	.	.	.	.	.	.	.	intronic	.	.	.	.	3
chr15	63362179	TPM1	G	A	2	0.0247604	.	.	.	.	0.0002	.	UTR3	.	0.0005	0.0003	0.0001	-1
chr15	63363394	TPM1	ATTCTTTCGT	ATTCTTTCATTTTGTTTTGT,TTTCTTTCGT	2	.	.	.	.	.	.	.	UTR3	.	.	.	.	2
chr15	63363395	TPM1	TTCTTTCGT	TTCTTTCATTTTGTTTTGT	2	0.127396	.	.	.	.	0.5264	.	UTR3\x3bUTR3\x3bUTR3\x3bUTR3	.	.	.	0.5107	-1
chr15	63363399	TPM1	TTCGT	TTCATTTTGTTTTGT,TTCATTTTGT	2	0.32528	.	.	.	.	0.2517	.	UTR3\x3bUTR3	.	.	.	0.2721	-1
chr15	63363401	TPM1	CGT	CATTTTGTTTTGT,CATTTTGT	2	0.32528	.	.	.	.	0.2517	.	UTR3\x3bUTR3	.	.	.	0.2721	-1
chr15	66679649	MAP2K1	TCCCCCCGGA	TCCCCCCCGGA,GCCCCCCGGA	2	.	.	.	.	.	.	.	UTR5	.	.	.	.	2
chr15	66679691	MAP2K1	C	T	1	.	.	MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374	Rasopathy|not_specified	Likely_benign	0.0003	synonymous_SNV	exonic	.	.	0.0002	0.0005	1
chr15	66679798	MAP2K1	C	G	3	0.00758786	.	.	.	.	0.0170	.	intronic	.	0.0140	0.0197	0.0254	-1
chr15	66679819	MAP2K1	G	C	23	0.0361422	.	.	.	.	.	.	intronic	.	.	.	0.0861	-1
chr15	66729107	MAP2K1	C	T	4	0.000399361	.	MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374	Rasopathy|not_specified	Benign	0.0010	synonymous_SNV	exonic	.	0.0006	0.0013	0.0005	1
chr15	66729250	MAP2K1	C	T	12	0.0191693	.	MedGen:CN169374	not_specified	Benign	0.0276	.	intronic	.	0.0236	0.0270	0.0203	-1
chr15	66777345	MAP2K1	G	A	1	0.00539137	.	MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374	Rasopathy|not_specified	Benign	0.0169	synonymous_SNV	exonic	.	0.0207	0.0178	0.0174	-1
chr15	66779573	MAP2K1	A	G	1	.	.	.	.	.	.	synonymous_SNV	exonic	.	.	.	.	2
chr15	66779698	MAP2K1	C	T	30	0.0900559	.	.	.	.	.	.	intronic	.	0.0893	.	0.0890	-1
chr15	66782048	MAP2K1	C	T	30	0.0892572	.	MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:C1275081,Orphanet:ORPHA1340,SNOMED_CT:403770008|MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374	Noonan_syndrome|Cardio-facio-cutaneous_syndrome|Rasopathy|not_specified	Benign	0.0863	.	intronic	.	0.0854	0.0869	0.0887	-1
chr15	66782108	MAP2K1	CTATTTATTC	CTATTC	1	0.00119808	.	MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:C1275081,Orphanet:ORPHA1340,SNOMED_CT:403770008|MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374	Noonan_syndrome|Cardio-facio-cutaneous_syndrome|Rasopathy|not_specified	Benign	0.0032	.	intronic	.	0.0029	0.0034	0.0031	0
chr15	73614834	HCN4	T	C	215	0.859625	.	MedGen:CN169374|MedGen:CN230736	not_specified|Cardiovascular_phenotype	Benign	0.9274	synonymous_SNV	exonic	.	0.9344	0.9315	0.9391	-1
chr15	73615097	HCN4	T	C	4	0.0081869	-3.599	MedGen:C2751083,OMIM:613123|MedGen:CN169374|MedGen:CN230736	Brugada_syndrome_8|not_specified|Cardiovascular_phenotype	Benign	0.03	nonsynonymous_SNV	exonic	T	0.0126	0.0145	0.0120	-1
chr15	73615205	HCN4	C	T	1	.	4.641	.	.	.	8.7e-05	nonsynonymous_SNV	exonic	D	.	7.372e-05	.	3
chr15	73615298	HCN4	A	C	1	.	2.959	.	.	.	.	nonsynonymous_SNV	exonic	T	.	.	.	2
chr15	73615311	HCN4	GGCA	GTCT	2	.	.	.	.	.	.	nonframeshift_substitution	exonic	.	.	.	.	2
chr15	73615314	HCN4	A	C,G	2	.	.	.	.	.	.	synonymous_SNV	exonic	.	.	.	.	2
chr15	73615322	HCN4	A	T	2	.	5.117	.	.	.	.	nonsynonymous_SNV	exonic	D	.	.	.	4
chr15	73615634	HCN4	G	A	1	0.000798722	4.639	MedGen:C2751083,OMIM:613123|MedGen:CN169374|MedGen:CN230736	Brugada_syndrome_8|not_specified|Cardiovascular_phenotype	Conflicting_interpretations_of_pathogenicity	9.21e-05	nonsynonymous_SNV	exonic	D	0.0001	8.88e-05	6.696e-05	1
chr15	73615786	HCN4	G	C	1	0.00339457	0.186	Human_Phenotype_Ontology:HP:0030682,MedGen:C1960469,Orphanet:ORPHA54260,SNOMED_CT:427608000|MedGen:C1834144,OMIM:163800|MedGen:C2751083,OMIM:613123|MedGen:CN169374|MedGen:CN230736	Left_ventricular_noncompaction|Sick_sinus_syndrome_2,_autosomal_dominant|Brugada_syndrome_8|not_specified|Cardiovascular_phenotype	Benign	0.0118	nonsynonymous_SNV	exonic	T	0.0132	0.0115	0.0126	-1
chr15	73615788	HCN4	T	G	31	.	.	.	.	.	.	synonymous_SNV	exonic	.	.	.	.	4
chr15	73615878	HCN4	C	T	16	0.0275559	.	MedGen:C2751083,OMIM:613123|MedGen:CN169374|MedGen:CN230736	Brugada_syndrome_8|not_specified|Cardiovascular_phenotype	Benign	0.0484	synonymous_SNV	exonic	.	0.0488	0.0497	0.0476	-1
chr15	73616548	HCN4	G	A	1	.	.	MedGen:CN169374	not_specified	Uncertain_significance	0.0001	synonymous_SNV	exonic	.	0.0002	0.0001	0.0001	1
chr15	73617315	HCN4	G	A	1	.	.	MedGen:C2751083,OMIM:613123	Brugada_syndrome_8	Likely_benign	1.501e-05	synonymous_SNV	exonic	.	0.0001	9.019e-06	.	2
chr15	73617403	HCN4	C	T	1	.	4.896	.	.	.	1.498e-05	nonsynonymous_SNV	exonic	D	.	1.79e-05	.	3
chr15	73617804	HCN4	G	T	1	0.00339457	.	MedGen:CN169374	not_specified	Benign	0.0099	.	intronic	.	0.0145	0.0111	0.0124	-1
chr15	73621946	HCN4	G	A	14	0.053115	.	MedGen:CN169374|MedGen:CN230736	not_specified|Cardiovascular_phenotype	Benign	0.0937	synonymous_SNV	exonic	.	0.0910	0.0957	0.1067	-1
chr15	73622049	HCN4	C	T	1	0.000199681	.	MedGen:CN230736	Cardiovascular_phenotype	Likely_benign	4.5e-05	synonymous_SNV	exonic	.	.	5.372e-05	0.0001	1
chr15	73624454	HCN4	C	T	1	.	.	.	.	.	0	.	intronic	.	.	2.69e-05	0	2
chr15	73624540	HCN4	G	A	1	.	.	MedGen:CN169374	not_specified	Likely_benign	0.0001	synonymous_SNV	exonic	.	.	0.0002	.	1
chr15	73635803	HCN4	G	A	1	.	5.493	MedGen:CN169374|MedGen:CN230736	not_specified|Cardiovascular_phenotype	Uncertain_significance	1.5e-05	nonsynonymous_SNV	exonic	D	.	8.953e-06	.	4
chr15	73660144	HCN4	GC	TG	2	.	.	.	.	.	.	nonframeshift_substitution	exonic	.	.	.	.	2
chr15	73660150	HCN4	G	C	2	.	.	.	.	.	.	synonymous_SNV	exonic	.	.	.	.	2
chr15	73660438	HCN4	G	T	1	.	.	.	.	.	.	synonymous_SNV	exonic	.	.	6.079e-05	.	2
chr15	73660502	HCN4	GCCCCCT	GCCTCCT,TCCCCCT	1	.	1.192	.	.	.	.	nonsynonymous_SNV	exonic	T	.	.	.	2
chr15	73660505	HCN4	CCCT	TCCT	10	0.0249601	2.191	MedGen:CN169374|MedGen:CN230736	not_specified|Cardiovascular_phenotype	Benign	0.1222	nonsynonymous_SNV\x3bnonsynonymous_SNV	exonic\x3bexonic	T	0.0508	0.0637	0.0594	-1
chr15	73660522	HCN4	CT	CG	1	.	.	.	.	.	.	frameshift_deletion	exonic	.	.	.	.	2
chr15	73660523	HCN4	T	G	2	.	3.655	.	.	.	.	nonsynonymous_SNV	exonic	D	.	.	.	3
chr15	73660576	HCN4	G	C	2	0.00359425	.	MedGen:C2751083,OMIM:613123|MedGen:CN169374|MedGen:CN230736	Brugada_syndrome_8|not_specified|Cardiovascular_phenotype	Benign	0.0090	synonymous_SNV	exonic	.	0.0047	0.0069	0.0063	0
chr15	73660629	HCN4	T	G	1	.	.	.	.	.	.	.	UTR5	.	.	.	.	2
chr16	30908054	CTF1	T	G	1	.	.	.	.	.	.	.	intronic	.	.	.	.	2
chr16	30908060	CTF1	T	G	1	.	.	.	.	.	.	.	intronic	.	.	.	.	2
chr16	30908068	CTF1	T	G	1	.	.	.	.	.	.	.	intronic	.	.	.	.	2
chr17	8192202	SLC25A35	C	G	2	0.00179712	.	MedGen:CN169374	not_specified	Benign	0.0005	.	UTR3	.	0.0006	0.0003	0.0002	0
chr17	8192289	RANGRF	C	G	1	.	.	.	.	.	.	synonymous_SNV	exonic	.	.	.	.	2
chr17	8192922	na	C	T	10	0.141573	.	MedGen:CN169374	not_specified	Benign	0.0422	.	UTR3	.	0.0433	0.0388	0.0423	-1
chr17	37821644	TCAP	CGGAGGAGAAC	CGGAGAAC	1	.	.	.	.	.	0.0015	nonframeshift_deletion	exonic	.	0.0206	0.0015	0.0014	-1
chr17	37822045	TCAP	C	T	1	.	3.502	MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C1843791,OMIM:607487	Primary_familial_hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1N	Uncertain_significance	3.767e-05	nonsynonymous_SNV	exonic	T	.	5.698e-05	.	2
chr17	37822309	TCAP	GCA	GCC	8	.	.	.	.	.	.	frameshift_deletion\x3bframeshift_deletion	exonic\x3bexonic	.	.	.	.	4
chr17	37822310	TCAP	CA	CC	4	.	.	.	.	.	.	frameshift_deletion\x3bframeshift_deletion	exonic\x3bexonic	.	.	.	.	3
chr17	37822311	TCAP	A	C	152	0.54972	.	Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352	Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive	Benign/Likely_benign	0.7255	synonymous_SNV	exonic	.	0.7122	0.7262	0.7038	-1.5
chr17	39912141	JUP	TCCAT	TCCAA,GCCAT	152	.	3.443	.	.	.	.	nonsynonymous_SNV	exonic	T	.	.	.	4
chr17	39912145	JUP	TGT	AGT	172	0.58726	1.242	MedGen:C1832600,OMIM:601214,Orphanet:ORPHA34217|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181	Naxos_disease|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC	Benign/Likely_benign	0.7291	nonsynonymous_SNV	exonic	T	0.7391	0.7357	0.7421	-1
chr17	39913645	JUP	T	C	178	0.717252	.	MedGen:CN169374	not_specified	Benign	0.7393	.	intronic	.	0.7456	0.7450	0.7532	-1
chr17	39913700	JUP	G	A	1	.	.	.	.	.	.	synonymous_SNV	exonic	.	.	1.79e-05	.	2
chr17	39913754	JUP	G	A	1	.	.	MedGen:CN169374|MedGen:CN230736	not_specified|Cardiovascular_phenotype	Likely_benign	7.492e-05	synonymous_SNV	exonic	.	0.0002	0.0001	0.0003	1
chr17	39913771	JUP	C	T	2	0.00259585	4.688	MedGen:C1832600,OMIM:601214,Orphanet:ORPHA34217|MedGen:C1969081,OMIM:611528|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202	Naxos_disease|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_12|not_specified|Cardiovascular_phenotype|not_provided	Benign/Likely_benign	0.0112	nonsynonymous_SNV	exonic	T	0.0090	0.0119	0.0134	-1
chr17	39913995	JUP	G	A	1	0.000199681	.	MedGen:CN517202	not_provided	Benign	1.563e-05	synonymous_SNV	exonic	.	.	2.747e-05	.	1
chr17	39923613	JUP	GA	GG	4	.	.	.	.	.	.	.	intronic	.	.	.	.	3
chr17	39923614	JUP	A	G	187	0.744209	.	MedGen:CN169374	not_specified	Benign	0.8096	.	intronic	.	0.8084	0.8138	0.8146	-1
chr17	39923648	JUP	C	T	1	0.000399361	6.641	MedGen:C1832600,OMIM:601214,Orphanet:ORPHA34217|MedGen:C1969081,OMIM:611528|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202	Naxos_disease|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_12|not_specified|Cardiovascular_phenotype|not_provided	Uncertain_significance	0.0001	nonsynonymous_SNV	exonic	T	0.0002	0.0002	6.672e-05	2
chr17	39925230	JUP	C	T	1	.	7.378	.	.	.	.	nonsynonymous_SNV	exonic	T	.	0	0	3
chr17	39925383	JUP	G	A	1	0.000199681	6.684	MedGen:CN169374|MedGen:CN517202	not_specified|not_provided	Uncertain_significance	0	nonsynonymous_SNV	exonic	D	0.0001	0	0	3
chr17	39925713	JUP	C	T	25	0.0239617	7.586	MedGen:C1832600,OMIM:601214,Orphanet:ORPHA34217|MedGen:C1969081,OMIM:611528|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181	Naxos_disease|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_12|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC	Benign/Likely_benign	0.0630	nonsynonymous_SNV	exonic	T	0.0581	0.0563	0.0671	0
chr17	39925726	JUP	C	T	1	.	7.255	.	.	.	3.428e-05	nonsynonymous_SNV	exonic	T	.	5.479e-05	6.672e-05	3
chr17	39925733	JUP	G	A	1	0.0271565	.	MedGen:C1832600,OMIM:601214,Orphanet:ORPHA34217|MedGen:C1969081,OMIM:611528|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181	Naxos_disease|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_12|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC	Benign/Likely_benign	0.0003	synonymous_SNV	exonic	.	0.0002	0.0003	0.0003	-1
chr17	39925888	JUP	G	A	1	.	6.000	.	.	.	1.914e-05	nonsynonymous_SNV	exonic	T	.	1.926e-05	6.676e-05	3
chr17	39925925	JUP	AT	GT	185	0.715655	.	MedGen:C1832600,OMIM:601214,Orphanet:ORPHA34217|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181	Naxos_disease|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC	Benign/Likely_benign	0.7622	synonymous_SNV	exonic	.	0.7552	0.7581	0.7567	-1
chr17	48243384	SGCA	G	A	1	0.000199681	.	MedGen:C2936332,OMIM:608099,Orphanet:ORPHA62	Limb-girdle_muscular_dystrophy,_type_2D	Uncertain_significance	4.542e-05	.	UTR5	.	.	3.672e-05	.	1
chr17	48243461	SGCA	G	A	15	0.0283546	.	MedGen:CN169374	not_specified	Likely_benign	0.0694	.	intronic	.	0.0627	0.0692	0.0713	-1
chr17	48243502	SGCA	GAC	GAT,TAC	15	.	.	.	.	.	.	.	intronic	.	.	.	.	4
chr17	48243503	SGCA	AC	AT,CC	15	.	.	.	.	.	.	.	intronic	.	.	.	.	4
chr17	48243504	SGCA	C	T	226	0.988618	.	.	.	.	0.9998	.	intronic	.	0.9997	0.9998	0.9998	-1
chr17	48244781	SGCA	A	G	1	.	.	.	.	.	1.501e-05	synonymous_SNV	exonic	.	.	8.954e-06	0.0001	2
chr17	48244875	SGCA	G	T	1	.	.	.	.	.	.	.	intronic	.	.	.	.	2
chr17	48245770	SGCA	C	A	1	0.00139776	2.670	MedGen:C2936332,OMIM:608099,Orphanet:ORPHA62|MedGen:CN169374	Limb-girdle_muscular_dystrophy,_type_2D|not_specified	Conflicting_interpretations_of_pathogenicity	0.0019	nonsynonymous_SNV	exonic	D	0.0007	0.0008	0.0005	1
chr17	48246548	SGCA	C	G	4	0.000199681	2.090	MedGen:CN169374	not_specified	Uncertain_significance	0.0005	nonsynonymous_SNV	exonic	D	0.0001	0.0004	0.0006	2
chr17	48247689	SGCA	C	T	7	0.0786741	.	MedGen:C2936332,OMIM:608099,Orphanet:ORPHA62|MedGen:CN169374	Limb-girdle_muscular_dystrophy,_type_2D|not_specified	Benign/Likely_benign	0.0381	synonymous_SNV	exonic	.	0.0416	0.0388	0.0406	-1
chr17	48247699	SGCA	C	T	1	.	8.345	.	.	.	.	nonsynonymous_SNV	exonic	D	.	0	.	4
chr17	48248083	SGCA	C	A	1	0.00179712	.	.	.	.	.	.	intronic	.	0.0057	.	0.0155	0
chr17	48252804	SGCA	T	C	223	0.921925	.	MedGen:CN169374	not_specified	Benign	0.9620	.	UTR3	.	0.9589	0.9611	0.959	-1
chr17	68171597	KCNJ2	C	A	1	.	.	.	.	.	5.993e-05	synonymous_SNV	exonic	.	.	3.581e-05	.	2
chr17	68172326	KCNJ2	C	T	22	0.153954	.	MedGen:C1563715,OMIM:170390,Orphanet:ORPHA37553,SNOMED_CT:422348008|MedGen:C2348199,Orphanet:ORPHA51083|MedGen:CN169374|MedGen:CN204347,Orphanet:ORPHA334|MedGen:CN230736	Andersen_Tawil_syndrome|short_QT_syndrome|not_specified|Familial_atrial_fibrillation|Cardiovascular_phenotype	Benign	0.1167	synonymous_SNV	exonic	.	0.1186	0.1172	0.1124	-1
chr17	78078656	GAA	G	A	4	0.0115815	4.921	MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:C1847465|MedGen:CN169374|MedGen:CN517202	Glycogen_storage_disease,_type_II|Acid_alpha-glucosidase,_allele_2|not_specified|not_provided	other	0.0317	nonsynonymous_SNV	exonic	T	0.0315	0.0327	0.0350	-1
chr17	78078708	GAA	GT	GC	2	.	.	.	.	.	.	frameshift_deletion	exonic	.	.	.	.	2
chr17	78078709	GAA	T	C	186	0.714457	.	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	Ciliary_dyskinesia|Glycogen_storage_disease,_type_II|not_specified|not_provided	Benign	0.7654	synonymous_SNV	exonic	.	0.7490	0.7563	0.7533	-1
chr17	78079544	GAA	C	G	188	0.602835	.	MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374	Glycogen_storage_disease,_type_II|not_specified	Benign	0.7456	.	intronic	.	0.7384	0.7402	0.7400	-1
chr17	78079597	GAA	A	G	188	0.600839	-1.974	MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374	Glycogen_storage_disease,_type_II|not_specified	Benign	0.7455	nonsynonymous_SNV	exonic	T	0.7383	0.7402	0.7399	-1
chr17	78079643	GAA	C	T	77	0.10603	.	MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202	Glycogen_storage_disease,_type_II|not_specified|not_provided	Benign/Likely_benign	0.2307	synonymous_SNV	exonic	.	0.22	0.2254	0.2138	-1
chr17	78079669	GAA	G	A	188	0.602436	1.133	MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374	Glycogen_storage_disease,_type_II|not_specified	Benign/Likely_benign	0.7460	nonsynonymous_SNV	exonic	T	0.7381	0.7402	0.7398	-1
chr17	78079710	GAA	G	C	2	0.000599042	.	MedGen:CN169374	not_specified	Likely_benign	0.0016	.	intronic	.	0.0010	0.0015	0.0015	0
chr17	78081352	GAA	G	T	1	0.000399361	.	MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374	Glycogen_storage_disease,_type_II|not_specified	Conflicting_interpretations_of_pathogenicity	0.0001	.	intronic	.	0.0002	0.0002	0.0001	1
chr17	78081515	GAA	G	A	5	0.00239617	.	MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374	Glycogen_storage_disease,_type_II|not_specified	Benign/Likely_benign	0.0107	synonymous_SNV	exonic	.	0.0120	0.0102	0.0095	-1
chr17	78081526	GAA	AGC	AGCAGCGGGC	144	.	.	.	.	.	.	.	intronic	.	.	.	.	4
chr17	78081529	GAA	G	A	57	.	.	MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374	Glycogen_storage_disease,_type_II|not_specified	Benign/Likely_benign	0.0047	.	intronic	.	.	0.0078	0.0001	2
chr17	78081655	GAA	G	A	1	0.000399361	.	MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374	Glycogen_storage_disease,_type_II|not_specified	Conflicting_interpretations_of_pathogenicity	0.0016	synonymous_SNV	exonic	.	0.0015	0.0018	0.0016	0
chr17	78081661	GAA	A	T	25	0.110224	.	MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374	Glycogen_storage_disease,_type_II|not_specified	Benign/Likely_benign	0.0687	synonymous_SNV	exonic	.	0.0719	0.0656	0.0713	-1
chr17	78081707	GAA	G	A	188	0.604433	.	MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374	Glycogen_storage_disease,_type_II|not_specified	Benign	0.7978	.	intronic	.	0.7545	0.7644	0.7398	-1
chr17	78082221	GAA	C	T	2	0.00519169	.	MedGen:CN169374	not_specified	Benign/Likely_benign	0.0152	.	intronic	.	0.0166	0.0162	0.0136	-1
chr17	78082503	GAA	AG	AA	6	.	.	.	.	.	.	frameshift_deletion	exonic	.	.	.	.	4
chr17	78082504	GAA	G	A	183	0.602835	.	MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374	Glycogen_storage_disease,_type_II|not_specified	Benign	0.7474	synonymous_SNV	exonic	.	0.7380	0.7401	0.7392	-1
chr17	78083724	GAA	ACA	ACG,CCA	183	.	.	.	.	.	.	.	intronic	.	.	.	.	4
chr17	78083725	GAA	CA	CG	20	.	.	.	.	.	.	.	intronic\x3bintronic	.	.	.	.	4
chr17	78083726	GAA	A	G	167	0.711661	.	MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374	Glycogen_storage_disease,_type_II|not_specified	Benign	0.7619	.	intronic	.	0.7486	0.7547	0.7528	-1
chr17	78083791	GAA	C	T	25	0.0982428	.	MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374	Glycogen_storage_disease,_type_II|not_specified	Benign/Likely_benign	0.0658	synonymous_SNV	exonic	.	0.0715	0.0657	0.0712	-1
chr17	78083834	GAA	G	A	2	0.000199681	5.282	MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002	Glycogen_storage_disease,_type_II	Uncertain_significance	3.102e-05	nonsynonymous_SNV	exonic	D	0.0001	1.806e-05	.	3
chr17	78084505	GAA	CTG	CTC	14	.	.	.	.	.	.	.	intronic\x3bintronic	.	.	.	.	4
chr17	78084506	GAA	TG	TC	4	.	.	.	.	.	.	.	intronic\x3bintronic	.	.	.	.	3
chr17	78084507	GAA	G	C	170	0.603035	.	MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374	Glycogen_storage_disease,_type_II|not_specified	Benign	0.7454	.	intronic	.	0.7379	0.7399	0.7392	-1
chr17	78084592	GAA	A	G	1	.	1.170	MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374	Glycogen_storage_disease,_type_II|not_specified	Uncertain_significance	0.0001	nonsynonymous_SNV	exonic	D	0.0002	9.854e-05	0.0002	2
chr17	78084769	GAA	G	A	61	0.159545	.	MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374	Glycogen_storage_disease,_type_II|not_specified	Benign/Likely_benign	0.2751	synonymous_SNV	exonic	.	0.2816	0.2765	0.2704	-1
chr17	78084781	GAA	C	T	1	0.000199681	.	MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374	Glycogen_storage_disease,_type_II|not_specified	Conflicting_interpretations_of_pathogenicity	0.0001	synonymous_SNV	exonic	.	0.0001	0.0002	6.68e-05	1
chr17	78085911	GAA	G	A	7	0.063099	.	MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374	Glycogen_storage_disease,_type_II|not_specified	Benign/Likely_benign	0.0624	.	intronic	.	0.0628	0.0656	0.0661	-1
chr17	78086359	GAA	T	C	1	0.000599042	.	MedGen:CN169374	not_specified	Likely_benign	0.0009	.	intronic	.	0.0010	0.0010	0.0011	0
chr17	78086452	GAA	C	T	1	0.000599042	.	MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374	Glycogen_storage_disease,_type_II|not_specified	Benign/Likely_benign	0.0022	synonymous_SNV	exonic	.	0.0012	0.0018	0.0045	0
chr17	78086531	GAA	G	A	7	0.0778754	.	MedGen:CN169374	not_specified	Benign	0.0543	.	intronic	.	0.0313	0.0403	0.0469	-1
chr17	78086718	GAA	C	T	2	.	.	MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374	Glycogen_storage_disease,_type_II|not_specified	Likely_benign	0.0001	synonymous_SNV	exonic	.	.	7.431e-05	0.0001	2
chr17	78086846	GAA	AT	GT	190	0.715056	.	MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374	Glycogen_storage_disease,_type_II|not_specified	Benign	0.7704	.	intronic	.	0.7513	0.7547	0.7524	-1
chr17	78087028	GAA	G	A	2	0.000199681	.	MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374	Glycogen_storage_disease,_type_II|not_specified	Conflicting_interpretations_of_pathogenicity	0.0001	synonymous_SNV	exonic	.	.	8.05e-05	0.0001	1
chr17	78087041	GAA	G	A	7	0.0780751	2.321	.|MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374	Acid_alpha-glucosidase,_allele_4|Glycogen_storage_disease,_type_II|not_specified	Conflicting_interpretations_of_pathogenicity,_other	0.0675	nonsynonymous_SNV	exonic	T	0.0348	0.0385	0.0470	-1
chr17	78087108	GAA	CA	CG	2	.	.	.	.	.	.	frameshift_deletion	exonic	.	.	.	.	2
chr17	78087109	GAA	A	G	91	0.241613	.	MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374	Glycogen_storage_disease,_type_II|not_specified	Benign/Likely_benign	0.3708	synonymous_SNV	exonic	.	0.2793	0.2879	0.2959	-1
chr17	78090928	GAA	GCCCT	ACCCT,ACCCC	91	.	.	.	.	.	.	.	intronic	.	.	.	.	4
chr17	78091405	GAA	GTAGA	ATAGA	190	0.711861	-0.394	MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374	Glycogen_storage_disease,_type_II|not_specified	Benign	0.7645	nonsynonymous_SNV	exonic	T	0.7499	0.7566	0.7527	-1
chr17	78091484	GAA	C	T	1	.	3.502	MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374	Glycogen_storage_disease,_type_II|not_specified	Uncertain_significance	0.0005	nonsynonymous_SNV	exonic	T	0.0006	0.0005	0.0005	0
chr17	78091984	GAA	C	G	1	.	.	.	.	.	.	.	intronic	.	.	0	.	2
chr17	78092060	GAA	TGGG	TGGA,GGGG	1	.	.	.	.	.	.	synonymous_SNV	exonic	.	.	.	.	2
chr17	78092061	GAA	GGG	GGA	20	.	.	.	.	.	.	frameshift_deletion\x3bframeshift_deletion	exonic\x3bexonic	.	.	.	.	4
chr17	78092063	GAA	G	A	147	0.509385	.	MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374	Glycogen_storage_disease,_type_II|not_specified	Benign	0.6465	synonymous_SNV	exonic	.	0.6427	0.6386	0.6279	-1
chr18	3067278	MYOM1	A	G	107	0.594449	.	MedGen:CN169374|MedGen:CN230736	not_specified|Cardiovascular_phenotype	Benign	0.5350	synonymous_SNV	exonic	.	0.4664	0.4685	0.4680	-1
chr18	3067299	MYOM1	G	A	2	0.000599042	.	Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN230736	Hypertrophic_cardiomyopathy|Cardiovascular_phenotype	Benign/Likely_benign	0.0002	synonymous_SNV	exonic	.	0.0002	0.0001	0.0001	0
chr18	3071836	MYOM1	C	T	1	.	5.869	.	.	.	.	nonsynonymous_SNV	exonic	D	.	.	.	4
chr18	3075501	MYOM1	GACGA	GACAAAGA,AACGA	1	.	.	.	.	.	.	.	intronic	.	.	.	.	2
chr18	3075502	MYOM1	ACGA	ACAAAGA	2	0.992612	.	.	.	.	0.9942	.	intronic\x3bintronic\x3bintronic	.	0.9933	0.9933	0.9926	-1
chr18	3075503	MYOM1	CGA	CAAAGA	224	0.992612	.	.	.	.	0.9942	.	intronic\x3bintronic\x3bintronic	.	0.9933	0.9933	0.9926	-1
chr18	3075554	MYOM1	T	C	18	0.193291	.	.	.	.	.	.	intronic	.	0.1216	.	0.1261	-1
chr18	3075712	MYOM1	C	A	109	0.622804	.	MedGen:CN169374	not_specified	Benign	0.4972	.	intronic	.	0.4632	0.4549	0.4613	-1
chr18	3075746	MYOM1	G	A	46	0.183506	.	MedGen:CN169374|MedGen:CN230736	not_specified|Cardiovascular_phenotype	Benign	0.2178	synonymous_SNV	exonic	.	0.1697	0.1666	0.1958	-1
chr18	3075778	MYOM1	A	C	46	0.183506	.	.	.	.	0.2071	.	intronic	.	0.1614	0.1681	0.1960	-1
chr18	3083922	MYOM1	A	C	4	0.00279553	.	.	.	.	0.0089	.	intronic	.	0.0044	0.0036	0.0033	1
chr18	3086065	MYOM1	C	T	6	0.0521166	5.971	MedGen:CN169374|MedGen:CN230736	not_specified|Cardiovascular_phenotype	Benign	0.0783	nonsynonymous_SNV	exonic	T	0.0716	0.0792	0.0798	0
chr18	3089123	MYOM1	CTATTTTATTTC	CTATTTC	6	0.0696885	.	.	.	.	0.0829	.	intronic	.	0.0724	0.0823	0.0798	-1
chr18	3089521	MYOM1	CG	CT	4	.	.	.	.	.	.	.	intronic	.	.	.	.	3
chr18	3089522	MYOM1	G	T	192	0.800319	.	MedGen:CN169374	not_specified	Benign	0.8049	.	intronic	.	0.7970	0.7995	0.8176	-1
chr18	3089559	MYOM1	G	A	1	.	5.515	Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569	Hypertrophic_cardiomyopathy	Uncertain_significance	1.575e-05	nonsynonymous_SNV	exonic	T	.	1.804e-05	0	3
chr18	3090761	MYOM1	C	T	1	.	6.701	Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569	Hypertrophic_cardiomyopathy	Uncertain_significance	0.0001	nonsynonymous_SNV	exonic	T	.	0.0001	0	3
chr18	3100429	MYOM1	G	A	111	0.348043	.	MedGen:CN169374|MedGen:CN230736	not_specified|Cardiovascular_phenotype	Benign	0.4710	.	intronic	.	0.4470	0.4467	0.4390	-1
chr18	3112406	MYOM1	C	T	2	0.000199681	1.986	MedGen:CN169374	not_specified	Likely_benign	6.154e-05	nonsynonymous_SNV	exonic	T	0.0001	5.545e-05	.	1
chr18	3126811	MYOM1	A	G	54	0.254393	0.079	MedGen:CN169374|MedGen:CN230736	not_specified|Cardiovascular_phenotype	Benign	0.1523	nonsynonymous_SNV	exonic	T	0.1415	0.1432	0.1403	-1
chr18	3129297	MYOM1	C	T	2	0.000599042	.	Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736	Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype	Benign/Likely_benign	0.0034	synonymous_SNV	exonic	.	0.0034	0.0036	0.0023	0
chr18	3129307	MYOM1	T	G	1	.	-1.114	Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN230736	Hypertrophic_cardiomyopathy|Cardiovascular_phenotype	Uncertain_significance	0.0002	nonsynonymous_SNV	exonic	T	.	0.0003	0.0002	1
chr18	3129309	MYOM1	T	C	1	0.000798722	.	Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569	Hypertrophic_cardiomyopathy	Benign	0.0004	synonymous_SNV	exonic	.	0.0006	0.0005	0.0004	0
chr18	3129368	MYOM1	T	C	2	.	-0.620	Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374	Hypertrophic_cardiomyopathy|not_specified	Likely_benign	0.0009	nonsynonymous_SNV	exonic	T	0.0010	0.0010	0.0007	0
chr18	3129535	MYOM1	C	T	2	0.00199681	.	.	.	.	0.0051	.	intronic	.	0.0042	0.0050	0.0039	0
chr18	3134826	MYOM1	A	C	4	0.00599042	.	Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736	Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype	Benign	0.0139	.	intronic	.	0.0136	0.0140	0.0159	-1
chr18	3141991	MYOM1	G	A	3	0.000199681	.	.	.	.	9.013e-05	synonymous_SNV	exonic	.	.	0.0001	6.666e-05	2
chr18	3149115	MYOM1	T	C	1	.	.	.	.	.	1.501e-05	.	intronic	.	.	2.686e-05	6.665e-05	2
chr18	3151681	MYOM1	A	T	1	.	.	.	.	.	9.201e-05	.	intronic	.	.	0.0001	.	2
chr18	3155098	MYOM1	G	A	1	0.00119808	.	.	.	.	0.0003	.	intronic	.	0.0002	0.0002	6.662e-05	0
chr18	3164385	MYOM1	C	T	44	0.16873	.	MedGen:CN169374|MedGen:CN230736	not_specified|Cardiovascular_phenotype	Benign	0.2406	synonymous_SNV	exonic	.	0.2072	0.2097	0.1874	-1
chr18	3164441	MYOM1	G	T	1	0.000399361	.	Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569	Hypertrophic_cardiomyopathy	Likely_benign	0.0004	.	intronic	.	.	0.0004	0.0003	1
chr18	3168816	MYOM1	G	A	58	0.282149	.	MedGen:CN169374|MedGen:CN230736	not_specified|Cardiovascular_phenotype	Benign	0.2619	synonymous_SNV	exonic	.	0.2648	0.2633	0.2740	-1
chr18	3173964	MYOM1	G	A	58	0.316094	.	MedGen:CN169374|MedGen:CN230736	not_specified|Cardiovascular_phenotype	Benign	0.3103	synonymous_SNV	exonic	.	0.3157	0.3126	0.3221	-1
chr18	3174018	MYOM1	C	T	43	0.192292	.	.	.	.	0.2474	.	intronic	.	0.2582	0.2517	0.2667	-1
chr18	3174056	MYOM1	C	A	58	0.315695	.	.	.	.	.	.	intronic	.	0.3240	.	0.3206	-1
chr18	3174064	MYOM1	G	T	43	0.191893	.	.	.	.	.	.	intronic	.	0.2652	.	0.2669	-1
chr18	3174076	MYOM1	AACACACACACACT	AACACACACACACACT,AACACACACATACACT	43	0.0810703	.	.	.	.	0.0610	.	intronic	.	0.0564	0.0595	0.0536	-1
chr18	3174084	MYOM1	CA	CATA	8	.	.	.	.	.	.	.	intronic	.	.	.	.	4
chr18	3174238	MYOM1	G	A	8	0.00958466	.	.	.	.	0.0310	.	intronic	.	0.0269	0.0297	0.0245	-1
chr18	3176017	MYOM1	C	T	43	0.191693	.	.	.	.	0.2501	.	intronic	.	0.2556	0.2417	0.2665	-1
chr18	3176040	MYOM1	C	G	154	0.757188	-1.049	MedGen:CN169374|MedGen:CN230736	not_specified|Cardiovascular_phenotype	Benign	0.7042	nonsynonymous_SNV	exonic	T	0.7156	0.7079	0.7326	-1
chr18	3176063	MYOM1	C	T	57	0.273163	.	MedGen:CN169374|MedGen:CN230736	not_specified|Cardiovascular_phenotype	Benign	0.3057	synonymous_SNV	exonic	.	0.3116	0.3079	0.3207	-1
chr18	3188778	MYOM1	C	T	4	0.00219649	5.491	Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736	Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype	Benign/Likely_benign	0.0059	nonsynonymous_SNV	exonic	T	0.0056	0.0062	0.0047	2
chr18	3188857	MYOM1	A	G,C	4	.	.	.	.	.	.	synonymous_SNV	exonic	.	.	.	.	3
chr18	3188873	MYOM1	G	A,T	4	.	-0.720	.	.	.	.	nonsynonymous_SNV	exonic	T	.	.	.	3
chr18	3188976	MYOM1	A	G	82	0.443291	2.095	MedGen:CN169374|MedGen:CN230736	not_specified|Cardiovascular_phenotype	Benign	0.4155	nonsynonymous_SNV	exonic	T	0.4153	0.4177	0.4448	-1
chr18	3214917	MYOM1	GG	GC	4	.	.	.	.	.	.	.	intronic	.	.	.	.	3
chr18	3214918	MYOM1	G	C	42	0.286142	.	MedGen:CN169374	not_specified	Benign	0.2851	.	intronic	.	0.2615	0.2774	0.2847	-1
chr18	3215030	MYOM1	C	A	13	0.0730831	.	MedGen:CN169374|MedGen:CN230736	not_specified|Cardiovascular_phenotype	Benign	0.0652	synonymous_SNV	exonic	.	0.0565	0.0642	0.0665	-1
chr18	3215156	MYOM1	CAC	GAG	13	.	.	.	.	.	.	nonframeshift_substitution	exonic	.	.	.	.	4
chr18	3215230	MYOM1	C	T	39	0.335663	.	MedGen:CN169374	not_specified	Benign	0.2652	.	UTR5	.	0.2245	0.2252	0.2306	-1
chr18	9117796	NDUFV2	G	A	1	.	.	.	.	.	.	.	intronic	.	.	.	.	2
chr18	9117867	NDUFV2	T	C	198	0.778954	0.840	MedGen:C1838867,OMIM:556500|MedGen:C1838979,OMIM:252010|MedGen:CN169374	Parkinson_disease,_mitochondrial|Mitochondrial_complex_I_deficiency|not_specified	Benign	0.8157	nonsynonymous_SNV	exonic	T	0.8194	0.8155	0.8134	-1
chr18	9119489	NDUFV2	A	T	26	0.0750799	.	MedGen:C1838979,OMIM:252010|MedGen:CN169374	Mitochondrial_complex_I_deficiency|not_specified	Likely_benign	0.1029	synonymous_SNV	exonic	.	0.1129	0.1060	0.0999	-1
chr18	19378178	MIB1	A	G	1	0.000199681	2.579	.	.	.	3.002e-05	nonsynonymous_SNV	exonic	T	.	0.0001	0.0002	1
chr18	19383888	MIB1	C	T	1	.	.	.	.	.	.	synonymous_SNV	exonic	.	.	0	.	2
chr18	19383966	MIB1	C	T	1	0.000798722	.	MedGen:C3554496,OMIM:615092	Left_ventricular_noncompaction_7	Likely_benign	6.176e-05	synonymous_SNV	exonic	.	.	4.493e-05	0	0
chr18	19418308	MIB1	T	C	2	.	.	MedGen:C3554496,OMIM:615092	Left_ventricular_noncompaction_7	Benign	0.0003	.	intronic	.	0.0005	0.0003	0.0004	0
chr18	19418475	MIB1	A	G	1	0.00878594	.	MedGen:C3554496,OMIM:615092|MedGen:CN169374	Left_ventricular_noncompaction_7|not_specified	Benign	6.136e-05	.	intronic	.	0.0002	6.011e-05	6.66e-05	0
chr18	19427096	MIB1	A	G	26	0.0878594	.	MedGen:C3554496,OMIM:615092|MedGen:CN169374	Left_ventricular_noncompaction_7|not_specified	Benign	0.0936	.	intronic	.	0.0848	0.0838	0.0745	-1
chr18	19429174	MIB1	G	A	1	0.000399361	3.448	MedGen:CN169374	not_specified	Uncertain_significance	0.0005	nonsynonymous_SNV	exonic	T	0.0002	0.0005	0.0003	0
chr18	28647999	DSC2	TTCT	TTCTCT	5	.	.	.	.	.	.	frameshift_insertion	exonic	.	.	.	.	4
chr18	28648975	DSC2	C	T	10	0.0275559	0.324	MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1864850,OMIM:610476|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181	Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_11|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC	Benign/Likely_benign	0.0540	nonsynonymous_SNV	exonic	T	0.0452	0.0517	0.0521	-1
chr18	28649042	DSC2	T	C	10	0.196486	-1.683	MedGen:C1864850,OMIM:610476|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181	Arrhythmogenic_right_ventricular_cardiomyopathy,_type_11|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC	Benign/Likely_benign	0.0842	nonsynonymous_SNV	exonic	T	0.0837	0.0837	0.0794	-1
chr18	28651588	DSC2	C	T	1	.	6.930	.	.	.	.	nonsynonymous_SNV	exonic	T	.	.	.	3
chr18	28660232	DSC2	T	C	1	0.000199681	.	Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1864850,OMIM:610476|MedGen:CN169374	Cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_11|not_specified	Benign/Likely_benign	0.0047	synonymous_SNV	exonic	.	0.0043	0.0041	0.0026	0
chr18	28666526	DSC2	TTG	TTAATG	230	0.996006	.	MedGen:C1864850,OMIM:610476|MedGen:CN169374|MedGen:CN239181	Arrhythmogenic_right_ventricular_cardiomyopathy,_type_11|not_specified|Cardiomyopathy,_ARVC	Benign/Likely_benign	1.0000	.	intronic	.	1	1.0000	1	-1
chr18	28666574	DSC2	C	T	1	0.00299521	5.929	MedGen:C1864850,OMIM:610476|MedGen:CN169374|MedGen:CN230736	Arrhythmogenic_right_ventricular_cardiomyopathy,_type_11|not_specified|Cardiovascular_phenotype	Conflicting_interpretations_of_pathogenicity	0.0004	nonsynonymous_SNV	exonic	T	0.0002	0.0004	0.0005	1
chr18	28672067	DSC2	T	C	2	0.00379393	.	MedGen:C1864850,OMIM:610476|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181	Arrhythmogenic_right_ventricular_cardiomyopathy,_type_11|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC	Conflicting_interpretations_of_pathogenicity	0.0127	synonymous_SNV	exonic	.	0.0117	0.0125	0.0151	-1
chr18	28673565	DSC2	T	C	25	0.123602	.	MedGen:C1864850,OMIM:610476|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181	Arrhythmogenic_right_ventricular_cardiomyopathy,_type_11|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC	Benign/Likely_benign	0.1111	synonymous_SNV	exonic	.	0.1210	0.1129	0.1185	-1
chr18	28681903	DSC2	T	C,G	25	.	0.576	.	.	.	.	nonsynonymous_SNV	exonic	T	.	.	.	4
chr18	29078160	DSG2	G	C	1	0.000399361	.	MedGen:CN239181|MedGen:CN239310	Cardiomyopathy,_ARVC|Dilated_Cardiomyopathy,_Dominant	Uncertain_significance	.	.	UTR5	.	.	.	0.0027	1
chr18	29078333	DSG2	C	G,A	1	.	.	.	.	.	.	.	intronic	.	.	.	.	2
chr18	29101156	DSG2	T	G	2	0.00139776	4.014	MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1857777,OMIM:610193|MedGen:C1862511,OMIM:107970|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202	Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_10|Arrhythmogenic_right_ventricular_dysplasia,_familial_1|not_specified|Cardiovascular_phenotype|not_provided	Benign/Likely_benign	0.0078	nonsynonymous_SNV	exonic	T	0.0079	0.0080	0.0096	0
chr18	29101213	DSG2	GTCTTTTTTTTTTTTTTTAATAAATAAATAC	GTCTTTTTTTTTTTTTTAAATAAATAAATAC,GTCTTTTTTTTTTTTTTAATAAATAAATAC,TTTTTTTTTTTTTTTTTTAATAAATAAATAC,TTCTTTTTTTTTTTTTTTAATAAATAAATAC	2	.	.	.	.	.	.	.	intronic	.	.	.	.	2
chr18	29101214	DSG2	TCTTTTTTTTTTTTTTTAATAAATAAATAC	TCTTTTTTTTTTTTTTAAATAAATAAATAC,TCTTTTTTTTTTTTTTAATAAATAAATAC,TTTTTTTTTTTTTTTTTAATAAATAAATAC	2	.	.	MedGen:CN169374	not_specified	Benign	.	.	intronic	.	.	0.0006	.	0
chr18	29101215	DSG2	CTTTTTTTTTTTTTTTA	CTTTTTTTTTTTTTA,CTTTTTTTTTTTTTTA	2	.	.	MedGen:CN169374	not_specified	Uncertain_significance	0.3557	.	intronic\x3bintronic\x3bintronic	.	.	0.3808	0.0109	-1
chr18	29104564	DSG2	C	A	48	0.211462	.	MedGen:CN169374	not_specified	Benign	0.2552	.	intronic	.	0.2609	0.2574	0.2649	-1
chr18	29104698	DSG2	C	T	86	0.526558	.	MedGen:CN169374|MedGen:CN230736|MedGen:CN239181|MedGen:CN239310	not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC|Dilated_Cardiomyopathy,_Dominant	Benign/Likely_benign	0.3687	synonymous_SNV	exonic	.	0.3787	0.3718	0.3792	-1.5
chr18	29104711	DSG2	C	T	1	.	6.475	MedGen:C1857777,OMIM:610193	Arrhythmogenic_right_ventricular_cardiomyopathy,_type_10	Uncertain_significance	1.499e-05	nonsynonymous_SNV	exonic	T	.	3.587e-05	.	3
chr18	29104714	DSG2	A	G	19	0.0323482	3.997	MedGen:CN169374|MedGen:CN230736|MedGen:CN239181|MedGen:CN239310	not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC|Dilated_Cardiomyopathy,_Dominant	Benign/Likely_benign	0.0887	nonsynonymous_SNV	exonic	T	0.0859	0.0869	0.0929	-1.5
chr18	29118769	DSG2	G	C	1	.	0.970	.	.	.	5.997e-05	nonsynonymous_SNV	exonic	T	0.0001	7.184e-05	.	2
chr18	29122618	DSG2	G	A	8	0.0259585	1.194	MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181	Arrhythmogenic_right_ventricular_cardiomyopathy|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC	Benign/Likely_benign	0.0739	nonsynonymous_SNV	exonic	T	0.0777	0.0748	0.0842	-1
chr18	29122750	DSG2	A	G	1	.	-1.248	.	.	.	.	nonsynonymous_SNV	exonic	T	.	.	.	2
chr18	29122799	DSG2	G	A	44	0.240016	2.152	MedGen:CN169374|MedGen:CN230736|MedGen:CN239181|MedGen:CN239310	not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC|Dilated_Cardiomyopathy,_Dominant	Benign/Likely_benign	0.2565	nonsynonymous_SNV	exonic	T	0.2540	0.2551	0.2602	-1.5
chr18	29125854	DSG2	A	G	37	0.197484	.	MedGen:CN169374|MedGen:CN230736|MedGen:CN239181|MedGen:CN239310	not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC|Dilated_Cardiomyopathy,_Dominant	Benign/Likely_benign	0.1076	synonymous_SNV	exonic	.	0.1076	0.1063	0.1080	-1.5
chr18	29126108	DSG2	T	G	1	0.00319489	3.890	MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1857777,OMIM:610193|MedGen:CN169374|MedGen:CN230736	Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_10|not_specified|Cardiovascular_phenotype	Conflicting_interpretations_of_pathogenicity	0.0047	nonsynonymous_SNV	exonic	T	0.0050	0.0047	0.0047	0
chr18	29126485	DSG2	G	A	1	0.000199681	6.839	.	.	.	0	nonsynonymous_SNV	exonic	D	.	.	.	3
chr18	29126592	DSG2	C	T	1	0.0103834	.	MedGen:C1857777,OMIM:610193|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181|MedGen:CN239310	Arrhythmogenic_right_ventricular_cardiomyopathy,_type_10|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC|Dilated_Cardiomyopathy,_Dominant	Benign/Likely_benign	0.0051	synonymous_SNV	exonic	.	0.0040	0.0050	0.0043	-1.5
chr18	29126615	DSG2	G	T	1	.	2.927	MedGen:CN517202	not_provided	Uncertain_significance	4.5e-05	nonsynonymous_SNV	exonic	T	.	3.59e-05	.	2
chr18	29126670	DSG2	T	C	87	0.542931	.	MedGen:CN169374|MedGen:CN230736|MedGen:CN239181|MedGen:CN239310	not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC|Dilated_Cardiomyopathy,_Dominant	Benign/Likely_benign	0.3705	synonymous_SNV	exonic	.	0.3777	0.3733	0.3807	-1.5
chr18	29172865	TTR	G	A	9	0.0233626	-0.088	.|MedGen:CN169374|MedGen:CN230736	TRANSTHYRETIN_POLYMORPHISM|not_specified|Cardiovascular_phenotype	Benign	0.0709	nonsynonymous_SNV	exonic	T	0.0780	0.0728	0.0812	-1
chr18	29178513	TTR	G	C	9	0.0660942	.	Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:CN169374	Cardiomyopathy|not_specified	Benign	0.0353	.	intronic	.	0.0383	0.0363	0.0442	-1
chr18	29178564	TTR	C	T	1	.	5.947	MedGen:C2751492,OMIM:105210,SNOMED_CT:43532007,SNOMED_CT:442012008|MedGen:CN169374	Amyloidogenic_transthyretin_amyloidosis|not_specified	Uncertain_significance	4.498e-05	nonsynonymous_SNV	exonic	D	.	3.583e-05	0	4
chr18	29178610	TTR	C	T	1	0.000998403	6.978	.|MedGen:C2751492,OMIM:105210,SNOMED_CT:43532007,SNOMED_CT:442012008|MedGen:CN169374|MedGen:CN230736	AMYLOIDOSIS,_HEREDITARY,_TRANSTHYRETIN-RELATED,_MODIFIER_OF|Amyloidogenic_transthyretin_amyloidosis|not_specified|Cardiovascular_phenotype	Benign/Likely_benign,_risk_factor	0.0025	nonsynonymous_SNV	exonic	D	0.0028	0.0029	0.0019	2
chr18	32335915	DTNA	A	G	13	0.0479233	.	MedGen:CN169374	not_specified	Benign	0.0835	.	intronic	.	0.0780	0.0825	0.0878	-1
chr18	32391951	DTNA	T	A	1	.	2.139	.	.	.	.	nonsynonymous_SNV	exonic	T	.	.	.	2
chr18	32391984	DTNA	C	G	1	.	4.609	.	.	.	.	nonsynonymous_SNV	exonic	T	.	.	.	2
chr18	32392092	DTNA	T	C	1	.	.	MedGen:CN169374	not_specified	Likely_benign	0.0002	.	intronic	.	0.0002	0.0001	0.0001	1
chr18	32395859	DTNA	G	T	1	0.00139776	.	Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1858725,OMIM:604169|MedGen:CN169374	Left_ventricular_noncompaction_cardiomyopathy|Left_ventricular_noncompaction_1|not_specified	Benign/Likely_benign	0.0013	.	intronic	.	.	0.0016	0.0011	0
chr18	32400909	DTNA	ACA	AA	20	0.114617	.	.	.	.	0.1093	.	intronic	.	0.1147	0.1120	0.1290	-1
chr18	32407531	DTNA	T	G	1	.	.	.	.	.	8.993e-05	.	intronic	.	.	5.373e-05	.	2
chr18	32408968	DTNA	C	A	1	0.000599042	.	.	.	.	0.0014	.	intronic	.	0.0011	0.0016	0.0015	0
chr18	32418186	DTNA	T	A	57	0.204073	.	.	.	.	0.2563	.	intronic	.	0.2615	0.2592	0.2637	-1
chr18	32418752	DTNA	C	T	1	0.00119808	2.625	Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1858725,OMIM:604169|MedGen:CN169374|MedGen:CN517202	Left_ventricular_noncompaction_cardiomyopathy|Left_ventricular_noncompaction_1|not_specified|not_provided	Conflicting_interpretations_of_pathogenicity	0.0021	nonsynonymous_SNV	exonic	T	0.0028	0.0022	0.0026	0
chr18	32418812	DTNA	G	C	1	.	.	.	.	.	.	.	intronic	.	.	.	.	2
chr18	32428317	DTNA	G	A	1	.	.	MedGen:C1858725,OMIM:604169|MedGen:CN169374	Left_ventricular_noncompaction_1|not_specified	Likely_benign	0.0005	synonymous_SNV	exonic	.	0.0005	0.0003	0.0003	0
chr18	32444040	DTNA	G	A	74	0.29373	.	Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:CN169374	Left_ventricular_noncompaction_cardiomyopathy|not_specified	Benign	0.3944	.	intronic	.	0.3304	0.3339	0.3532	-1
chr18	32455193	DTNA	G	T	1	0.000798722	.	MedGen:C1858725,OMIM:604169|MedGen:CN169374|MedGen:CN517202	Left_ventricular_noncompaction_1|not_specified|not_provided	Benign/Likely_benign	0.0026	.	intronic	.	.	0.0023	0.0028	0
chr18	32455379	DTNA	T	C	24	0.128195	.	MedGen:CN169374	not_specified	Benign	0.1218	.	intronic	.	0.1264	0.1216	0.1417	-1
chr18	32459615	DTNA	G	A	1	.	.	MedGen:CN169374	not_specified	Likely_benign	0	synonymous_SNV	exonic	.	.	8.953e-06	0	2
chr18	32459697	DTNA	G	A	1	0.00559105	.	Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1858725,OMIM:604169|MedGen:CN169374	Cardiomyopathy|Left_ventricular_noncompaction_1|not_specified	Benign	0.0102	.	intronic	.	0.0105	0.0098	0.0189	-1
chr18	32464661	DTNA	C	G	1	.	.	.	.	.	1.498e-05	.	intronic	.	.	8.96e-06	.	2
chr18	32470291	DTNA	G	A	61	0.266973	2.442	MedGen:CN169374	not_specified	Benign	0.2485	nonsynonymous_SNV	exonic	.	.	0.2083	0.1994	-1
chr18	34081864	FHOD3	A	C	1	0.000998403	.	.	.	.	0.0003	.	intronic	.	.	0.0002	0.0001	0
chr18	34092370	FHOD3	T	A	1	.	.	.	.	.	6.418e-05	.	intronic	.	.	5.402e-05	.	2
chr18	34205551	FHOD3	C	T	17	0.0872604	2.410	.	.	.	0.0594	synonymous_SNV	exonic	.	0.0604	0.0583	0.0555	-1
chr18	34205572	FHOD3	C	T	1	0.000399361	2.130	.	.	.	1.531e-05	synonymous_SNV	exonic	.	0.0001	2.816e-05	6.676e-05	1
chr18	34205604	FHOD3	G	A	1	.	7.412	.	.	.	7.554e-05	nonsynonymous_SNV	exonic	T	.	9.075e-05	6.671e-05	3
chr18	34232543	FHOD3	G	A	11	0.0165735	-0.091	.	.	.	0.0383	nonsynonymous_SNV	exonic	.	.	0.0274	0.0249	-1
chr18	34232610	FHOD3	C	T	59	0.319489	1.357	.	.	.	0.3083	nonsynonymous_SNV	exonic	.	.	0.2812	0.2817	-1
chr18	34232657	FHOD3	G	A	41	0.0702875	-0.089	.	.	.	0.1429	nonsynonymous_SNV	exonic	.	.	0.1779	0.1720	-1
chr18	34238099	FHOD3	C	T	2	0.000599042	1.651	.	.	.	0.0003	nonsynonymous_SNV	exonic	T	0.0001	0.0003	6.665e-05	0
chr18	34238130	FHOD3	C	G	1	0.000599042	0.801	.	.	.	0.0006	nonsynonymous_SNV	exonic	T	0.0003	0.0005	0.0006	0
chr18	34261511	FHOD3	C	T	1	0.00678914	7.580	.	.	.	0.0113	nonsynonymous_SNV	exonic	T	0.0095	0.0108	0.0157	0
chr18	34273279	FHOD3	C	G	46	0.0902556	1.318	.	.	.	0.1783	nonsynonymous_SNV	exonic	T	0.1810	0.1802	0.1770	-1
chr18	34273372	FHOD3	C	T	1	.	-0.648	.	.	.	1.599e-05	nonsynonymous_SNV	exonic	T	.	1.804e-05	0	2
chr18	34289098	FHOD3	G	A	1	.	.	.	.	.	1.516e-05	synonymous_SNV	exonic	.	0.0001	1.797e-05	0	2
chr18	34289142	FHOD3	A	G	4	0.014976	-1.504	.	.	.	0.0385	nonsynonymous_SNV	exonic	T	0.0335	0.0360	0.0318	-1
chr18	34289285	FHOD3	G	T	5	0.00579073	4.122	.	.	.	0.0200	nonsynonymous_SNV	exonic	T	0.0236	0.0220	0.0223	-1
chr18	34289364	FHOD3	G	A	42	0.0760783	.	.	.	.	0.1804	.	intronic	.	0.1782	0.1801	0.1765	-1
chr18	34297806	FHOD3	G	A	1	.	-0.286	.	.	.	1.555e-05	nonsynonymous_SNV	exonic	T	.	2.977e-05	0	2
chr18	34297819	FHOD3	ATGCAGGT	AT	1	.	.	.	.	.	.	nonframeshift_deletion	exonic	.	.	.	.	2
chr18	34297907	FHOD3	G	A	1	.	.	.	.	.	1.502e-05	synonymous_SNV	exonic	.	.	8.959e-06	.	2
chr18	34298542	FHOD3	G	A	2	0.00379393	3.308	.	.	.	0.0018	nonsynonymous_SNV	exonic	T	0.0023	0.0022	0.0017	0
chr18	34298574	FHOD3	C	T	1	0.000599042	3.840	.	.	.	1.499e-05	nonsynonymous_SNV	exonic	T	.	1.79e-05	0	0
chr18	34310668	FHOD3	C	T	66	0.319489	.	.	.	.	0.3239	synonymous_SNV	exonic	.	0.3427	0.3299	0.3368	-1
chr18	34324091	FHOD3	G	A	61	0.376198	3.145	.	.	.	0.3054	nonsynonymous_SNV	exonic	T	0.3263	0.3112	0.3166	-1
chr19	16589950	CALR3	C	T	1	.	3.769	.	.	.	1.498e-05	nonsynonymous_SNV	exonic	T	0.0001	1.79e-05	.	2
chr19	16590094	CALR3	A	G	1	0.00299521	.	MedGen:C3151266,OMIM:613875|MedGen:CN517202	Familial_hypertrophic_cardiomyopathy_19|not_provided	Benign	0.0005	.	intronic	.	0.0003	5.373e-05	6.684e-05	0
chr19	16591462	CALR3	GCG	GCA	2	.	.	.	.	.	.	stopgain\x3bstopgain	exonic\x3bexonic	.	.	.	.	2
chr19	16591463	CALR3	CG	CA,AG	2	.	4.167	.	.	.	.	nonsynonymous_SNV	exonic	T	.	.	.	2
chr19	16591464	CALR3	G	A	156	0.650559	.	MedGen:C3151266,OMIM:613875|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202	Familial_hypertrophic_cardiomyopathy_19|not_specified|Cardiovascular_phenotype|not_provided	Benign	0.7109	synonymous_SNV	exonic	.	0.7043	0.7065	0.7044	-1
chr19	16593359	CALR3	C	T	2	0.0421326	0.011	MedGen:C3151266,OMIM:613875|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202	Familial_hypertrophic_cardiomyopathy_19|not_specified|Cardiovascular_phenotype|not_provided	Benign	0.0048	nonsynonymous_SNV	exonic	T	0.0059	0.0044	0.0038	-1
chr19	16593415	CALR3	G	A	178	0.660144	.	.	.	.	0.7113	.	intronic	.	0.7048	0.7067	0.7043	-1
chr19	16593573	CALR3	G	A	31	0.144569	.	MedGen:C3151266,OMIM:613875|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202	Familial_hypertrophic_cardiomyopathy_19|not_specified|Cardiovascular_phenotype|not_provided	Benign	0.1648	synonymous_SNV	exonic	.	0.1692	0.1645	0.1682	-1
chr19	16601168	CALR3	G	A	24	0.114018	.	MedGen:C3151266,OMIM:613875|MedGen:CN517202	Familial_hypertrophic_cardiomyopathy_19|not_provided	Benign	0.1362	.	intronic	.	0.1415	0.1389	0.1474	-1
chr19	16601194	CALR3	C	T	178	0.658946	.	MedGen:C3151266,OMIM:613875|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202	Familial_hypertrophic_cardiomyopathy_19|not_specified|Cardiovascular_phenotype|not_provided	Benign	0.7102	synonymous_SNV	exonic	.	0.7038	0.7052	0.7030	-1
chr19	16606821	CALR3	C	T	1	0.000798722	.	.	.	.	0.0055	.	intronic	.	0.0028	0.0040	0.0024	0
chr19	16606881	CALR3	G	C	1	0.000199681	.	MedGen:C3151266,OMIM:613875|MedGen:CN230736	Familial_hypertrophic_cardiomyopathy_19|Cardiovascular_phenotype	Benign/Likely_benign	0.0013	synonymous_SNV	exonic	.	0.0002	0.0008	0.0004	0
chr19	35523454	SCN1B	C	T	1	.	.	MedGen:C2748541,OMIM:612838|MedGen:CN169374	Brugada_syndrome_5|not_specified	Benign/Likely_benign	0.0001	synonymous_SNV	exonic	.	.	9.883e-05	.	2
chr19	35524824	SCN1B	T	C	105	0.377596	-0.608	MedGen:CN169374	not_specified	Benign	0.4522	nonsynonymous_SNV	exonic	T	0.3721	0.3838	0.3918	-1
chr19	35524939	SCN1B	C	A	38	0.127396	3.869	MedGen:CN169374	not_specified	Benign	0.1818	nonsynonymous_SNV	exonic	T	0.1455	0.1515	0.1693	-1
chr19	35524944	SCN1B	G	C	38	0.119209	1.238	MedGen:C0003811,OMIM:115000|MedGen:CN169374	Cardiac_arrhythmia|not_specified	Benign	0.1828	nonsynonymous_SNV	exonic	T	0.1454	0.1515	0.1690	-1
chr19	35524964	SCN1B	G	A	1	0.000199681	-1.373	MedGen:C2748541,OMIM:612838|MedGen:CN169374	Brugada_syndrome_5|not_specified	Benign/Likely_benign	0.0035	nonsynonymous_SNV	exonic	T	0.0032	0.0024	0.0039	0
chr19	35524989	SCN1B	G	A	1	.	2.285	.	.	.	.	nonsynonymous_SNV	exonic	T	.	0	.	2
chr19	35530073	SCN1B	T	C	9	0.0155751	.	EFO:EFO_0005137,MedGen:C2748542|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C2748541,OMIM:612838|MedGen:C3502809,Orphanet:ORPHA36387|MedGen:CN169374|MedGen:CN230736	Cardiac_conduction_defect,_nonspecific|Brugada_syndrome|Brugada_syndrome_5|Generalized_epilepsy_with_febrile_seizures_plus|not_specified|Cardiovascular_phenotype	Benign/Likely_benign	0.0311	synonymous_SNV	exonic	.	0.0321	0.0315	0.0290	-1
chr19	35530514	SCN1B	T	G	6	0.0081869	.	.	.	.	0.0144	.	intronic	.	0.015	0.0144	0.0155	-1
chr19	35530525	SCN1B	C	A	6	0.00798722	.	MedGen:CN169374	not_specified	Benign	0.0145	.	intronic	.	0.0151	0.0145	0.0156	-1
chr19	35530617	SCN1B	C	T	1	0.000399361	.	MedGen:CN169374	not_specified	Likely_benign	0.0009	.	intronic	.	0.0015	0.0012	0.0009	0
chr19	35530641	SCN1B	G	A	4	0.000399361	.	.	.	.	0.0052	.	intronic	.	0.0041	0.0037	0.0021	1
chr19	46273462	DMPK	CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC,CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC,CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC,CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC,CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	4	.	.	.	.	.	.	.	UTR3	.	.	.	.	3
chr19	46273480	DMPK	G	T	4	.	.	.	.	.	.	.	UTR3	.	.	.	.	3
chr19	46273481	DMPK	C	T	2	.	.	.	.	.	.	.	UTR3	.	.	.	.	2
chr19	46273482	DMPK	A	C	23	.	.	.	.	.	.	.	UTR3	.	.	.	.	4
chr19	46273483	DMPK	G	C	9	.	.	.	.	.	.	.	UTR3	.	.	.	.	4
chr19	46273488	DMPK	AGCAGCAGCAG	TACAAGGAGCAG,TACAAGGACCCTT	9	.	.	.	.	.	.	.	UTR3	.	.	.	.	4
chr19	46273489	DMPK	G	A,C	9	.	.	.	.	.	.	.	UTR3	.	.	.	.	4
chr19	46273492	DMPK	G	A	1	.	.	.	.	.	.	.	UTR3	.	.	.	.	2
chr19	46273493	DMPK	C	G	2	.	.	.	.	.	.	.	UTR3	.	.	.	.	2
chr19	46273494	DMPK	A	C,G	2	.	.	.	.	.	.	.	UTR3	.	.	.	8.042e-05	2
chr19	46273495	DMPK	G	C	5	.	.	.	.	.	.	.	UTR3	.	.	.	.	4
chr19	46273497	DMPK	A	C,T	5	.	.	.	.	.	.	.	UTR3	.	.	.	.	4
chr19	46273500	DMPK	A	C,G	5	.	.	.	.	.	.	.	UTR3	.	.	.	0	4
chr19	46273501	DMPK	G	C	4	.	.	.	.	.	.	.	UTR3	.	.	.	.	3
chr19	46273505	DMPK	CAGCA	CCCCA	8	.	.	.	.	.	.	.	UTR3\x3bUTR3	.	.	.	.	4
chr19	46273506	DMPK	AG	CC,CG	8	.	.	.	.	.	.	.	UTR3	.	.	.	.	4
chr19	46273507	DMPK	G	C	1	.	.	.	.	.	.	.	UTR3	.	.	.	0	2
chr19	46273824	DMPK	C	T	1	.	1.339	.	.	.	.	stopgain	exonic	.	.	0	.	6
chr19	46274196	DMPK	A	C	1	.	.	.	.	.	.	.	intronic	.	.	.	.	2
chr19	46274220	DMPK	C	T	1	.	.	.	.	.	.	.	intronic	.	.	0	.	2
chr19	46274357	DMPK	G	A	2	0.00299521	.	.	.	.	0.0272	.	intronic\x3bintronic	.	0.0125	0.0143	0.0147	-1
chr19	46274357	DMPK	G	A	1	0.00299521	.	.	.	.	0.0272	.	intronic\x3bintronic	.	0.0125	0.0143	0.0147	-1
chr19	46274624	DMPK	G	A	1	0.00559105	3.047	.	.	.	0.0161	nonsynonymous_SNV	exonic	T	0.0149	0.0168	0.0170	-1
chr19	46275976	DMPK	G	C	18	0.145168	2.333	MedGen:CN169374	not_specified	Benign	0.1182	nonsynonymous_SNV	exonic	T	0.1129	0.1127	0.1273	-1
chr19	46278261	DMPK	G	A	1	0.000599042	2.314	.	.	.	0.0002	nonsynonymous_SNV	exonic	T	.	0.0002	0.0001	0
chr19	46280656	DMPK	C	T	1	.	2.708	.	.	.	4.653e-05	nonsynonymous_SNV	exonic	T	0.0001	1.811e-05	.	2
chr19	46280768	DMPK	C	T	1	0.000399361	.	.	.	.	0.0001	synonymous_SNV	exonic	.	.	6.316e-05	0.0002	1
chr19	46280785	DMPK	G	A	2	.	4.984	.	.	.	3.046e-05	nonsynonymous_SNV\x3bnonsynonymous_SNV	exonic\x3bexonic	T	.	1.805e-05	.	2
chr19	46280785	DMPK	G	A	1	.	4.984	.	.	.	3.046e-05	nonsynonymous_SNV\x3bnonsynonymous_SNV	exonic\x3bexonic	T	.	1.805e-05	.	2
chr19	46280917	DMPK	G	A	2	0.00599042	.	MedGen:CN517202	not_provided	Likely_benign	0.0044	.	intronic	.	0.0044	0.0045	0.0038	0
chr19	46281385	DMPK	C	T	1	0.000599042	.	.	.	.	0.0002	synonymous_SNV	exonic	.	0.0002	0.0002	6.669e-05	0
chr19	46281386	DMPK	G	A	1	0.000798722	2.339	MedGen:CN169374	not_specified	Likely_benign	0.0004	nonsynonymous_SNV	exonic	T	0.0003	0.0003	0.0003	0
chr19	46281745	DMPK	A	G,C	1	.	.	.	.	.	.	.	intronic	.	.	.	.	2
chr19	46281913	DMPK	C	T	1	.	.	.	.	.	0.0001	.	intronic	.	0.0002	0.0001	6.684e-05	1
chr19	46282503	DMPK	A	C	18	0.122604	.	.	.	.	0.1229	.	intronic	.	0.1176	0.1199	0.1355	-1
chr19	46282514	DMPK	G	C	2	.	.	.	.	.	1.502e-05	.	intronic	.	.	.	.	2
chr19	46282683	DMPK	G	A	2	0.0127796	.	.	.	.	0.0086	.	intronic	.	0.0093	0.0092	0.0086	-1
chr19	46283281	DMPK	C	T	1	.	2.858	.	.	.	0.0012	nonsynonymous_SNV	exonic	T	0.0004	3.533e-05	6.666e-05	0
chr19	46285532	DMPK	C	T	1	.	2.617	.	.	.	8.332e-05	nonsynonymous_SNV	exonic	T	.	4.066e-05	.	2
chr19	47104678	CALM3	C	A	6	0.00379393	.	MedGen:CN169374	not_specified	Benign	0.0292	.	UTR5	.	0.0106	0.0177	0.0171	-1
chr19	47104779	CALM3	A	C	10	0.0249601	.	.	.	.	.	.	intronic	.	.	.	0.0241	-1
chr19	47109176	CALM3	A	G	2	.	.	.	.	.	.	.	intronic	.	0.0016	.	0.0016	0
chr19	47111722	CALM3	CTT	CT	3	.	.	.	.	.	.	.	intronic	.	.	.	.	3
chr19	47112261	CALM3	C	G	1	.	.	.	.	.	.	.	intronic	.	.	0	.	2
chr19	47112313	CALM3	T	A	1	.	.	.	.	.	.	.	intronic	.	.	.	.	2
chr19	47112357	CALM3	CCTCTCTCTCTG	CCTCTCTCTG	1	0.00599042	.	MedGen:CN169374	not_specified	Likely_benign	0.0179	.	intronic	.	0.0251	0.0189	0.0224	-1
chr19	47258842	FKRP	C	T	37	0.15016	.	MedGen:C1846672,OMIM:607155,Orphanet:ORPHA34515|MedGen:C1847759,OMIM:606612|MedGen:C3150413,OMIM:613153|MedGen:CN169374	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	Benign	0.1651	synonymous_SNV	exonic	.	0.1418	0.1404	0.1368	-1
chr19	47258899	FKRP	C	T	1	0.0129792	.	MedGen:C0265221,Orphanet:ORPHA899,SNOMED_CT:111504002|MedGen:C1846672,OMIM:607155,Orphanet:ORPHA34515|MedGen:C1847759,OMIM:606612|MedGen:C3150413,OMIM:613153|MedGen:CN169374	Walker-Warburg_congenital_muscular_dystrophy|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	Benign	0.0002	synonymous_SNV	exonic	.	0.0001	0.0003	0.0001	-1
chr19	47258956	FKRP	C	T	4	0.0061901	.	MedGen:C0265221,Orphanet:ORPHA899,SNOMED_CT:111504002|MedGen:CN169374	Walker-Warburg_congenital_muscular_dystrophy|not_specified	Benign	0.0214	synonymous_SNV	exonic	.	0.0134	0.0141	0.0133	-1
chr19	47259048	FKRP	C	G	4	0.0061901	0.398	MedGen:C0265221,Orphanet:ORPHA899,SNOMED_CT:111504002|MedGen:C1846672,OMIM:607155,Orphanet:ORPHA34515|MedGen:CN169374	Walker-Warburg_congenital_muscular_dystrophy|Limb-girdle_muscular_dystrophy-dystroglycanopathy,_type_C5|not_specified	Conflicting_interpretations_of_pathogenicity	0.0384	nonsynonymous_SNV	exonic	D	0.0106	0.0148	0.0117	0
chr19	47259134	FKRP	C	A	3	0.00259585	1.067	MedGen:C0265221,Orphanet:ORPHA899,SNOMED_CT:111504002|MedGen:CN169374|MedGen:CN517202	Walker-Warburg_congenital_muscular_dystrophy|not_specified|not_provided	Conflicting_interpretations_of_pathogenicity	0.0173	nonsynonymous_SNV	exonic	D	0.0049	0.0068	0.0049	0
chr19	49661112	TRPM4	G	A	52	0.150359	.	MedGen:CN169374|MedGen:CN206278,Orphanet:ORPHA871	not_specified|Progressive_familial_heart_block	Benign/Likely_benign	0.3171	.	UTR5	.	.	0.2925	0.2875	-1
chr19	49661545	TRPM4	AGA	AGG,CGA	52	.	.	.	.	.	.	.	intronic	.	.	.	.	4
chr19	49661547	TRPM4	A	G,C	52	.	.	.	.	.	.	.	intronic	.	.	.	.	4
chr19	49661580	TRPM4	GGT	GGC	4	.	.	.	.	.	.	.	intronic\x3bintronic	.	.	.	.	3
chr19	49661581	TRPM4	GT	GC	2	.	.	.	.	.	.	.	intronic\x3bintronic	.	.	.	.	2
chr19	49661582	TRPM4	TCA	CCA,GCA	2	.	.	.	.	.	.	.	intronic	.	.	.	.	2
chr19	49669447	TRPM4	CGGGGGC	CGGGGGGC	1	.	.	MedGen:CN230736	Cardiovascular_phenotype	Uncertain_significance	0.0001	frameshift_insertion	exonic	.	0.0002	5.83e-05	0.0001	1
chr19	49669486	TRPM4	C	G	3	0.0319489	.	MedGen:CN169374|MedGen:CN206278,Orphanet:ORPHA871	not_specified|Progressive_familial_heart_block	Benign/Likely_benign	0.0036	.	intronic	.	0.0026	0.0021	0.0019	-1
chr19	49671207	TRPM4	G	A	3	0.0159744	0.454	Gene:8184,MedGen:C1970298,OMIM:604559|MedGen:CN169374|MedGen:CN230736	Progressive_familial_heart_block_type_1B|not_specified|Cardiovascular_phenotype	Benign	0.0222	nonsynonymous_SNV	exonic	T	0.0187	2.801e-05	0.0114	-1
chr19	49671212	TRPM4	T	G	3	0.0159744	.	Gene:8184,MedGen:C1970298,OMIM:604559|MedGen:CN169374|MedGen:CN230736	Progressive_familial_heart_block_type_1B|not_specified|Cardiovascular_phenotype	Benign	0.0222	synonymous_SNV	exonic	.	0.0187	1.867e-05	0.0113	-1
chr19	49671251	TRPM4	G	A	1	.	.	.	.	.	1.504e-05	synonymous_SNV	exonic	.	.	1.794e-05	0	2
chr19	49671279	TRPM4	TCG	TCA,GCG	1	.	2.542	.	.	.	.	nonsynonymous_SNV	exonic	T	.	.	.	2
chr19	49671280	TRPM4	CG	CA	5	.	.	.	.	.	.	frameshift_deletion\x3bframeshift_deletion	exonic\x3bexonic	.	.	9.024e-06	.	4
chr19	49671281	TRPM4	G	A	10	0.0910543	.	MedGen:CN169374|MedGen:CN206278,Orphanet:ORPHA871|MedGen:CN230736	not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype	Benign/Likely_benign	0.0500	synonymous_SNV	exonic	.	0.0423	0.0456	0.0403	-1
chr19	49671503	TRPM4	C	T	1	0.00938498	.	MedGen:CN169374	not_specified	Benign	0.0001	.	intronic	.	0.0005	9.857e-05	0.0002	0
chr19	49671507	TRPM4	G	A	2	0.0119808	.	Gene:8184,MedGen:C1970298,OMIM:604559|MedGen:CN169374|MedGen:CN206278,Orphanet:ORPHA871	Progressive_familial_heart_block_type_1B|not_specified|Progressive_familial_heart_block	Benign/Likely_benign	0.0233	.	intronic	.	0.0257	0.0244	0.0296	-1
chr19	49671815	TRPM4	G	A	1	0.00958466	.	Gene:8184,MedGen:C1970298,OMIM:604559|MedGen:CN169374|MedGen:CN230736	Progressive_familial_heart_block_type_1B|not_specified|Cardiovascular_phenotype	Benign/Likely_benign	0.0012	synonymous_SNV	exonic	.	0.0009	0.0012	0.0007	0
chr19	49671952	TRPM4	G	A	2	.	3.589	Gene:8184,MedGen:C1970298,OMIM:604559|MedGen:CN169374|MedGen:CN230736	Progressive_familial_heart_block_type_1B|not_specified|Cardiovascular_phenotype	Benign	0.0083	nonsynonymous_SNV	exonic	T	0.0063	0.0059	0.0066	0
chr19	49671980	TRPM4	G	A	3	0.0157748	.	Gene:8184,MedGen:C1970298,OMIM:604559|MedGen:CN169374|MedGen:CN206278,Orphanet:ORPHA871|MedGen:CN230736	Progressive_familial_heart_block_type_1B|not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype	Benign/Likely_benign	0.0435	synonymous_SNV	exonic	.	0.0185	0.0225	0.0307	-1
chr19	49674722	TRPM4	G	A	1	0.00359425	.	.	.	.	0.0091	.	intronic	.	0.0070	0.0083	0.0077	0
chr19	49674841	TRPM4	G	A	3	.	2.465	.	.	.	0.0001	nonsynonymous_SNV	exonic	T	.	7.196e-05	.	3
chr19	49674931	TRPM4	CTGGC	CC	1	.	.	MedGen:CN206278,Orphanet:ORPHA871	Progressive_familial_heart_block	Uncertain_significance	6.157e-05	nonframeshift_deletion	exonic	.	0.0001	0.0001	.	2
chr19	49675017	TRPM4	G	T	13	0.0597045	.	MedGen:CN169374|MedGen:CN206278,Orphanet:ORPHA871|MedGen:CN230736	not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype	Benign/Likely_benign	0.0455	synonymous_SNV	exonic	.	0.0372	0.0418	0.0381	-1
chr19	49675038	TRPM4	GGGGCCC	GGGGCGGGCCC	3	0.0279553	.	MedGen:CN206278,Orphanet:ORPHA871	Progressive_familial_heart_block	Likely_benign	0.0030	.	intronic	.	0.0023	0.0024	0.0020	-1
chr19	49675233	TRPM4	C	T	15	0.0914537	.	.	.	.	0.0488	.	intronic	.	0.0421	0.0454	0.0403	-1
chr19	49675285	TRPM4	G	A	1	.	3.605	.	.	.	0	nonsynonymous_SNV	exonic	T	0.0001	0	.	2
chr19	49675297	TRPM4	T	G	1	.	6.428	Gene:8184,MedGen:C1970298,OMIM:604559|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374	Progressive_familial_heart_block_type_1B|Long_QT_syndrome|not_specified	Uncertain_significance	0.0004	nonsynonymous_SNV	exonic	D	0.0005	0.0003	6.687e-05	2
chr19	49684586	TRPM4	T	A	8	0.0145767	.	MedGen:CN169374	not_specified	Benign	0.0576	.	intronic	.	0.0581	0.0601	0.0640	-1
chr19	49686146	TRPM4	G	A	2	0.000399361	6.169	EFO:EFO_0004278,MeSH:D016757,MedGen:C0085298,SNOMED_CT:95281009|Gene:8184,MedGen:C1970298,OMIM:604559|MedGen:CN169374	Sudden_cardiac_death|Progressive_familial_heart_block_type_1B|not_specified	Conflicting_interpretations_of_pathogenicity	0.0019	stopgain	exonic	.	0.0011	0.0020	0.0015	4
chr19	49686189	TRPM4	G	T	1	.	.	.	.	.	.	.	intronic	.	.	0	.	2
chr19	49692023	TRPM4	C	T	1	.	.	.	.	.	.	synonymous_SNV	exonic	.	.	8.957e-06	.	2
chr19	49693461	TRPM4	A	C	1	.	.	MedGen:CN169374	not_specified	Likely_benign	0.0001	.	intronic	.	0.0001	8.959e-05	0	2
chr19	49694029	TRPM4	G	A	1	0.00339457	-1.018	Gene:8184,MedGen:C1970298,OMIM:604559|MedGen:CN169374	Progressive_familial_heart_block_type_1B|not_specified	Benign	0.0017	nonsynonymous_SNV	exonic	T	0.0017	0.0018	0.0026	0
chr19	49694101	TRPM4	G	A	1	0.000199681	.	.	.	.	.	.	intronic	.	.	.	0.0001	1
chr19	49699866	TRPM4	C	T	18	0.11242	.	MedGen:CN169374|MedGen:CN206278,Orphanet:ORPHA871|MedGen:CN230736	not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype	Benign/Likely_benign	0.0910	synonymous_SNV	exonic	.	0.0411	0.0515	0.0461	-1
chr19	49700047	TRPM4	A	G	1	0.000399361	0.237	Gene:8184,MedGen:C1970298,OMIM:604559|MedGen:CN169374	Progressive_familial_heart_block_type_1B|not_specified	Likely_benign	0.0029	nonsynonymous_SNV	exonic	T	0.0012	0.0011	0.0007	0
chr19	49703540	TRPM4	A	T	1	0.00279553	.	MedGen:CN169374	not_specified	Benign	8.997e-05	.	intronic	.	.	0.0002	6.67e-05	0
chr19	49703651	TRPM4	A	T	2	0.000399361	16.146	Gene:8184,MedGen:C1970298,OMIM:604559|MedGen:CN169374|MedGen:CN239424|MedGen:CN517202	Progressive_familial_heart_block_type_1B|not_specified|TRPM4-Related_Disorders|not_provided	Conflicting_interpretations_of_pathogenicity	0.0022	stopgain	exonic	.	0.0019	0.0020	0.0017	4
chr19	49703672	TRPM4	G	A	1	0.000199681	2.229	.	.	.	0.0001	nonsynonymous_SNV	exonic	T	0.0001	0.0001	0.0001	1
chr19	49703983	TRPM4	G	T	1	.	6.457	.	.	.	.	nonsynonymous_SNV	exonic	D	.	1.792e-05	.	4
chr19	49704023	TRPM4	T	C	1	0.0255591	.	Gene:8184,MedGen:C1970298,OMIM:604559|MedGen:CN169374|MedGen:CN206278,Orphanet:ORPHA871|MedGen:CN230736	Progressive_familial_heart_block_type_1B|not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype	Benign/Likely_benign	0.0004	synonymous_SNV	exonic	.	0.0009	0.0005	0.0002	-1
chr19	49705249	TRPM4	G	A	1	0.0233626	.	Gene:8184,MedGen:C1970298,OMIM:604559|MedGen:CN169374|MedGen:CN206278,Orphanet:ORPHA871|MedGen:CN230736	Progressive_familial_heart_block_type_1B|not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype	Benign/Likely_benign	0.0003	synonymous_SNV	exonic	.	0.0002	0.0004	0.0003	-1
chr19	49705291	TRPM4	G	A	1	0.023762	.	Gene:8184,MedGen:C1970298,OMIM:604559|MedGen:CN169374|MedGen:CN206278,Orphanet:ORPHA871|MedGen:CN230736	Progressive_familial_heart_block_type_1B|not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype	Benign/Likely_benign	0.0004	synonymous_SNV	exonic	.	0.0010	0.0005	0.0003	-1
chr19	49714497	TRPM4	C	T	2	0.00159744	4.157	Gene:8184,MedGen:C1970298,OMIM:604559|MedGen:CN169374|MedGen:CN230736	Progressive_familial_heart_block_type_1B|not_specified|Cardiovascular_phenotype	Benign/Likely_benign	0.0051	nonsynonymous_SNV	exonic	T	0.0033	0.0039	0.0042	0
chr19	49714732	TRPM4	C	G	1	0.0203674	.	MedGen:CN169374	not_specified	Benign	0.0039	.	intronic	.	0.0027	0.0037	0.0029	-1
chr19	49714836	TRPM4	G	T	1	.	.	MedGen:CN206278,Orphanet:ORPHA871	Progressive_familial_heart_block	Uncertain_significance	.	.	UTR3	.	.	.	0.0006	2
chr19	55665410	TNNI3	C	T	30	0.0477236	.	Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244|MedGen:CN169374|MedGen:CN230736	Hypertrophic_cardiomyopathy|Ciliary_dyskinesia|not_specified|Cardiovascular_phenotype	Benign/Likely_benign	0.0718	unknown	exonic	.	0.0658	0.0710	0.0649	-1
chr19	55665580	TNNI3	GGCAA	GGCAC	2	.	.	.	.	.	.	.	intronic\x3bintronic\x3bintronic\x3bintronic	.	.	.	.	2
chr19	55665581	TNNI3	GCAA	GCAC	4	.	.	.	.	.	.	.	intronic\x3bintronic\x3bintronic\x3bintronic	.	.	.	.	3
chr19	55665582	TNNI3	CAA	CAC,AAA	4	.	.	.	.	.	.	.	intronic	.	.	.	.	3
chr19	55665583	TNNI3	AA	AC,CA	4	.	.	.	.	.	.	.	intronic	.	.	.	.	3
chr19	55665584	TNNI3	AACGA	CACGA	210	1	.	Human_Phenotype_Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN169374|MedGen:CN239479	Ciliary_dyskinesia|Primary_familial_hypertrophic_cardiomyopathy|not_specified|Nemaline_Myopathy,_Recessive	Benign/Likely_benign	1	.	intronic	.	.	1	1	-1
chr19	55667647	TNNI3	C	A	10	0.0227636	2.843	Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244|MedGen:CN169374|MedGen:CN230736	Hypertrophic_cardiomyopathy|Ciliary_dyskinesia|not_specified|Cardiovascular_phenotype	Benign/Likely_benign	0.0649	unknown	exonic	.	0.0505	0.0567	0.0546	-1
chr19	55667958	TNNI3	C	T	2	0.076877	.	Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244|MedGen:C0340429,Orphanet:ORPHA217635,SNOMED_CT:233878008|MedGen:CN169374|MedGen:CN239222|MedGen:CN239247	Hypertrophic_cardiomyopathy|Ciliary_dyskinesia|Familial_restrictive_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Recessive|Familial_Hypertrophic_Cardiomyopathy_with_Wolff-Parkinson-White_Syndrome	Benign/Likely_benign	0.0049	.	intronic	.	0.0036	0.0028	0.0019	-1.5
chr19	55668007	TNNI3	T	A	1	.	4.826	MedGen:CN517202	not_provided	Likely_pathogenic	.	unknown	exonic	D	.	.	.	2
chr19	55668060	TNNI3	A	G	1	0.000199681	.	.	.	.	0.0017	.	intronic	.	0.0011	0.0015	0.0010	0
chr19	55668397	TNNI3	C	T	30	0.0477236	.	MedGen:CN169374	not_specified	Benign	0.1201	.	intronic	.	0.0622	0.0708	0.0655	-1
chr19	55668508	TNNI3	TA	TT	4	.	.	.	.	.	.	.	intronic	.	.	.	.	3
chr19	55668509	TNNI3	A	T	59	0.458067	.	Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244|MedGen:C0340429,Orphanet:ORPHA217635,SNOMED_CT:233878008|MedGen:CN169374|MedGen:CN239222|MedGen:CN239247	Hypertrophic_cardiomyopathy|Ciliary_dyskinesia|Familial_restrictive_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Recessive|Familial_Hypertrophic_Cardiomyopathy_with_Wolff-Parkinson-White_Syndrome	Benign/Likely_benign	0.2431	.	intronic	.	0.1948	0.2053	0.1976	-1.5
chr19	55668992	TNNI3	G	T	2	0.076877	.	Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244|MedGen:C0340429,Orphanet:ORPHA217635,SNOMED_CT:233878008|MedGen:CN169374|MedGen:CN239222|MedGen:CN239247	Hypertrophic_cardiomyopathy|Ciliary_dyskinesia|Familial_restrictive_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Recessive|Familial_Hypertrophic_Cardiomyopathy_with_Wolff-Parkinson-White_Syndrome	Benign/Likely_benign	0.0029	.	UTR5	.	0.0033	0.0028	0.0019	-1.5
chr19	55669004	TNNI3	G	A	3	0.00259585	.	MedGen:CN169374	not_specified	Likely_benign	0.0113	.	UTR5	.	0.0094	0.0105	0.0086	-1
chr2	39213258	SOS1	G	T	1	.	3.587	MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374	Rasopathy|not_specified	Likely_benign	0	nonsynonymous_SNV	exonic	D	.	0	.	3
chr2	39241107	SOS1	G	A	6	0.00319489	1.732	MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374	Rasopathy|not_specified	Benign	0.0122	nonsynonymous_SNV	exonic	T	0.0098	0.0116	0.0103	-1
chr2	39250386	SOS1	A	G	4	0.00778754	.	MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:CN169374	Noonan_syndrome|not_specified	Benign	0.0100	.	intronic	.	0.0077	0.0089	0.0091	1
chr2	39262348	SOS1	C	G	1	0.00279553	.	Human_Phenotype_Ontology:HP:0000169,MedGen:C0016049|MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374|MedGen:CN517202	Gingival_fibromatosis|Noonan_syndrome|Rasopathy|not_specified|not_provided	Benign	0.0164	.	intronic	.	0.0081	0.0117	0.0155	-1
chr2	39281832	SOS1	A	G	2	.	5.737	MedGen:CN169374	not_specified	Likely_benign	1.502e-05	nonsynonymous_SNV	exonic	D	.	4.479e-05	6.666e-05	4
chr2	39281905	SOS1	G	A	2	0.000998403	.	Human_Phenotype_Ontology:HP:0000169,MedGen:C0016049|MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374	Gingival_fibromatosis|Noonan_syndrome|Rasopathy|not_specified	Benign	0.0035	synonymous_SNV	exonic	.	0.0045	0.0036	0.0033	0
chr2	39281922	SOS1	T	C	1	0.000599042	-0.011	Human_Phenotype_Ontology:HP:0000169,MedGen:C0016049|MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374|MedGen:CN517202	Gingival_fibromatosis|Noonan_syndrome|Rasopathy|not_specified|not_provided	Benign	0.0003	nonsynonymous_SNV	exonic	T	0.0001	6.272e-05	.	0
chr2	39347525	SOS1	T	C	1	.	.	MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374	Rasopathy|not_specified	Conflicting_interpretations_of_pathogenicity	1.825e-05	synonymous_SNV	exonic	.	.	4.834e-05	6.684e-05	2
chr2	47387949	CALM2	AAAGAAGAAGT	AAAGAAGT	1	.	.	MedGen:C0035828,OMIM:192500,SNOMED_CT:20852007|MedGen:CN169374	Long_QT_syndrome_1|not_specified	Likely_benign	0.0002	.	intronic	.	.	9.062e-05	0.0002	1
chr2	47387986	CALM2	G	T,A	1	.	.	.	.	.	0.0032	.	intronic	.	.	0.0110	0	-1
chr2	47387988	CALM2	CCAAAAAAAAAAAAAAAAAAAAAAAATCACATTTACTC	CCAAAAAAAAAAAAAAAAAAAAATCACATTTACTC,AAAAAAAAAAAAAAAAAAAAAAAAAATCACATTTACTC,CAAAAAAAAAAAAAAAAAAAAATCACATTTACTC,CCAAAAAAAAAAAAAAAAAAAATCACATTTACTC	1	.	.	.	.	.	0.1532	.	intronic	.	.	.	.	-1
chr2	47387989	CALM2	C	A	2	.	.	.	.	.	.	.	intronic	.	.	.	.	2
chr2	47388844	CALM2	T	C	1	0.0521166	.	MedGen:CN169374	not_specified	Benign	0.0074	.	intronic	.	0.0067	0.0069	0.0071	-1
chr2	47403612	CALM2	G	A	1	0.000199681	.	.	.	.	0.0005	synonymous_SNV	exonic	.	0.0003	0.0002	0.0003	0
chr2	47403626	CALM2	T	G	4	.	2.126	.	.	.	.	nonsynonymous_SNV	exonic	T	.	0	.	3
chr2	105977761	FHL2	G	A	56	0.111422	.	MedGen:CN169374	not_specified	Benign	0.1934	synonymous_SNV	exonic	.	0.1959	0.1935	0.1913	-1
chr2	105977776	FHL2	G	A	18	0.0517173	.	MedGen:CN169374	not_specified	Benign	0.1184	synonymous_SNV	exonic	.	0.1270	0.1223	0.1172	-1
chr2	105977903	FHL2	G	C	30	0.305511	.	MedGen:CN169374	not_specified	Benign	0.1310	.	intronic	.	0.1364	0.1332	0.1422	-1
chr2	105979730	FHL2	C	A	84	0.277356	.	MedGen:CN169374	not_specified	Benign	0.3779	.	intronic	.	0.3766	0.3798	0.3795	-1
chr2	105979752	FHL2	G	A	3	0.00459265	.	EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:CN169374	Primary_dilated_cardiomyopathy|not_specified	Benign	0.0075	synonymous_SNV	exonic	.	0.0126	0.0098	0.0103	-2
chr2	179392015	TTN	T	C	1	0.00599042	.	MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736	Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype	Benign	0.0018	synonymous_SNV	exonic	.	0.0018	0.0016	0.0017	-1
chr2	179392260	TTN	C	T	1	.	3.508	MedGen:CN169374	not_specified	Conflicting_interpretations_of_pathogenicity	1.499e-05	nonsynonymous_SNV	exonic	T	0.0001	3.587e-05	6.661e-05	2
chr2	179392277	TTN	A	G	3	0.00219649	1.541	MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202	Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided	Conflicting_interpretations_of_pathogenicity	0.0016	nonsynonymous_SNV	exonic	T	0.0016	0.0009	0.0006	1.5
chr2	179392987	na	G	A	2	.	.	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:CN239310|MedGen:CN239352	Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive	Conflicting_interpretations_of_pathogenicity	0.0003	.	ncRNA_intronic	.	0.0004	0.0003	0.0003	1.5
chr2	179393111	TTN	A	G	4	0.0920527	0.471	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	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	Benign/Likely_benign	0.0216	nonsynonymous_SNV	exonic	T	0.0207	0.0205	0.0187	-1.5
chr2	179393691	TTN	G	A	2	0.00379393	3.210	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	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	Benign/Likely_benign	0.0094	nonsynonymous_SNV	exonic	T	0.0068	0.0083	0.0160	-0.5
chr2	179393803	TTN	C	G	1	0.000399361	3.311	Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MeSH:D030342,MedGen:C0950123|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	Hypertrophic_cardiomyopathy|Inborn_genetic_diseases|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	Conflicting_interpretations_of_pathogenicity	0.0005	nonsynonymous_SNV	exonic	T	0.0002	0.0005	0.0003	0.5
chr2	179393840	TTN	C	T	1	0.00599042	.	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	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	Conflicting_interpretations_of_pathogenicity	0.0018	synonymous_SNV	exonic	.	0.0020	0.0017	0.0017	0.5
chr2	179393859	TTN	A	G	3	0.00459265	2.010	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	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	Conflicting_interpretations_of_pathogenicity	0.0201	nonsynonymous_SNV	exonic	T	0.0178	0.0176	0.0172	-0.5
chr2	179395067	TTN	C	G	19	0.0509185	.	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	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	Benign/Likely_benign	0.0878	synonymous_SNV	exonic	.	0.0874	0.0890	0.0873	-1.5
chr2	179395415	TTN	G	T	1	.	1.480	.	.	.	.	nonsynonymous_SNV	exonic	T	.	.	.	2
chr2	179395554	TTN	GC	AA	4	.	.	MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202	Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided	Benign/Likely_benign	.	nonframeshift_substitution	exonic	.	.	.	.	2.5
chr2	179395560	TTN	G	A	4	0.0792732	3.557	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	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	Benign/Likely_benign	0.0215	nonsynonymous_SNV	exonic	T	0.0208	0.0205	0.0186	-1.5
chr2	179395573	TTN	C	T	8	0.00658946	4.028	MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736	Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype	Benign	0.0201	nonsynonymous_SNV	exonic	T	0.0175	0.0203	0.0186	-2
chr2	179395760	TTN	G	A	4	0.091254	.	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	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	Benign/Likely_benign	0.0215	synonymous_SNV	exonic	.	0.0205	0.0206	0.0189	-1.5
chr2	179395874	TTN	C	T	1	0.00319489	.	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	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	Conflicting_interpretations_of_pathogenicity	0.0116	synonymous_SNV	exonic	.	0.0119	0.0113	0.01	-0.5
chr2	179395958	TTN	T	C	50	0.508187	.	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	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	Benign/Likely_benign	0.2314	synonymous_SNV	exonic	.	0.2231	0.2261	0.2310	-1.5
chr2	179396114	TTN	C	T	1	0.00139776	.	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	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	Conflicting_interpretations_of_pathogenicity	0.0014	synonymous_SNV	exonic	.	0.0023	0.0008	0.0007	0.5
chr2	179396162	TTN	C	G	8	0.0229633	2.686	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	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	Benign/Likely_benign	0.0418	nonsynonymous_SNV	exonic	T	0.0436	0.0438	0.0486	-1.5
chr2	179396354	TTN	G	A	34	0.231829	.	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	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	Benign/Likely_benign	0.1468	synonymous_SNV	exonic	.	0.1451	0.1444	0.1547	-1.5
chr2	179396573	TTN	T	G	2	0.00379393	.	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	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	Benign/Likely_benign	0.0095	synonymous_SNV	exonic	.	0.0068	0.0083	0.0159	-0.5
chr2	179396766	TTN	C	T	6	0.00359425	3.918	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	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	Benign/Likely_benign	0.0176	nonsynonymous_SNV	exonic	T	0.0145	0.0171	0.0221	-1.5
chr2	179397077	TTN	G	A	1	.	.	.	.	.	1.499e-05	synonymous_SNV	exonic	.	.	8.966e-06	.	2
chr2	179397150	TTN	T	C	1	.	2.595	MedGen:CN169374	not_specified	Uncertain_significance	0	nonsynonymous_SNV	exonic	T	.	0	.	2
chr2	179397483	TTN	C	T	1	.	4.411	MedGen:CN169374	not_specified	Uncertain_significance	1.5e-05	nonsynonymous_SNV	exonic	T	0.0001	3.591e-05	0	2
chr2	179397561	TTN	C	T	34	0.208666	4.497	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	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	Benign/Likely_benign	0.1455	nonsynonymous_SNV	exonic	T	0.1442	0.1441	0.1542	-1.5
chr2	179398509	TTN	C	A	4	0.0780751	3.098	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	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	Benign/Likely_benign	0.0212	nonsynonymous_SNV	exonic	T	0.0198	0.0202	0.0185	-1.5
chr2	179398747	TTN	T	C	1	0.00599042	1.457	MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202	Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided	Conflicting_interpretations_of_pathogenicity	0.0017	nonsynonymous_SNV	exonic	T	0.0019	0.0016	0.0017	0.5
chr2	179398823	TTN	GCC	GC,ACC	1	0.232029	.	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	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	Benign/Likely_benign	0.1468	synonymous_SNV	exonic	.	0.1465	0.1447	0.1549	-1.5
chr2	179399264	TTN	A	G	1	.	.	.	.	.	1.499e-05	synonymous_SNV	exonic	.	.	2.7e-05	.	2
chr2	179399315	TTN	CAA	CA	1	.	.	.	.	.	.	stopgain	exonic	.	.	.	.	6
chr2	179399451	TTN	C	T	1	0.00599042	4.009	MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202	Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided	Conflicting_interpretations_of_pathogenicity	0.0018	nonsynonymous_SNV	exonic	T	0.0019	0.0016	0.0017	0.5
chr2	179399576	TTN	C	G	3	0.00459265	1.720	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	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	Conflicting_interpretations_of_pathogenicity	0.0099	nonsynonymous_SNV	exonic	T	0.0104	0.0110	0.0099	-0.5
chr2	179399936	TTN	G	C	1	0.00599042	.	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	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	Conflicting_interpretations_of_pathogenicity	0.0017	synonymous_SNV	exonic	.	0.0020	0.0016	0.0017	0.5
chr2	179399973	TTN	A	T	1	.	1.886	MedGen:CN169374	not_specified	Uncertain_significance	.	nonsynonymous_SNV	exonic	T	.	1.793e-05	.	2
chr2	179400586	na	A	G	1	0.0233626	.	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	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	Benign/Likely_benign	0.2483	.	ncRNA_intronic	.	0.0050	0.0647	0.0254	-1.5
chr2	179400895	TTN	C	T	3	0.0654952	3.526	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	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	Benign/Likely_benign	0.0182	nonsynonymous_SNV	exonic	T	0.0174	0.0179	0.0169	-1.5
chr2	179401027	TTN	C	G	1	.	2.555	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	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	Uncertain_significance	0.0004	nonsynonymous_SNV	exonic	T	0.0002	0.0004	0.0004	1
chr2	179401042	TTN	A	C	1	.	2.613	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	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	Uncertain_significance	0.0004	nonsynonymous_SNV	exonic	T	0.0002	0.0004	0.0004	1
chr2	179401311	na	CAAAAAAAAG	CAAAAAAAAAG	4	0.00359425	.	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	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	Conflicting_interpretations_of_pathogenicity	0.0066	.	ncRNA_intronic	.	0.0072	0.0063	0.0094	1.5
chr2	179401740	TTN	C	T	1	0.0231629	3.001	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	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	Benign/Likely_benign	0.0266	nonsynonymous_SNV	exonic	T	0.0207	0.0235	0.0243	-1.5
chr2	179401742	TTN	C	T	1	0.00479233	4.269	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	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	Benign/Likely_benign	0.0193	nonsynonymous_SNV	exonic	T	0.0210	0.0201	0.0199	-1.5
chr2	179401777	TTN	A	T	1	0.00599042	.	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	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	Conflicting_interpretations_of_pathogenicity	0.0017	synonymous_SNV	exonic	.	0.0018	0.0016	0.0017	0.5
chr2	179401870	TTN	C	A	1	.	3.357	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	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	Uncertain_significance	0	nonsynonymous_SNV	exonic	T	.	3.604e-05	.	2
chr2	179402072	TTN	G	A	1	.	32.086	.	.	.	.	stopgain	exonic	.	.	.	.	6
chr2	179403661	na	T	G	1	.	.	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:CN239310|MedGen:CN239352	Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive	Conflicting_interpretations_of_pathogenicity	0.0002	.	ncRNA_exonic	.	.	0.0002	6.66e-05	1.5
chr2	179403750	TTN	C	T	9	0.076877	4.332	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	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	Benign/Likely_benign	0.0324	nonsynonymous_SNV	exonic	T	0.0287	0.0323	0.0284	-1.5
chr2	179403946	TTN	C	T	2	.	1.980	MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374	Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified	Conflicting_interpretations_of_pathogenicity	0.0013	nonsynonymous_SNV	exonic	T	0.0004	0.0011	0.0003	0.5
chr2	179404192	TTN	T	A	1	.	3.122	.	.	.	.	nonsynonymous_SNV	exonic	T	.	.	.	2
chr2	179404197	TTN	T	C	1	0.00399361	.	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	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	Conflicting_interpretations_of_pathogenicity	0.0177	synonymous_SNV	exonic	.	0.0166	0.0175	0.0163	-0.5
chr2	179404268	TTN	C	T	1	.	4.138	MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN517202	Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_provided	Uncertain_significance	2.997e-05	nonsynonymous_SNV	exonic	T	.	2.696e-05	0	2
chr2	179404293	TTN	G	A	1	0.00599042	.	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	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	Conflicting_interpretations_of_pathogenicity	0.0017	synonymous_SNV	exonic	.	0.0020	0.0017	0.0017	0.5
chr2	179404402	TTN	T	C	2	0.00399361	1.106	MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202	Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided	Benign/Likely_benign	0.0067	nonsynonymous_SNV	exonic	T	0.0081	0.0071	0.0057	-0.5
chr2	179404550	TTN	G	A	4	0.00139776	3.839	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	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	Conflicting_interpretations_of_pathogenicity	0.0052	nonsynonymous_SNV	exonic	T	0.0041	0.0053	0.0108	1.5
chr2	179404628	TTN	T	A	3	0.0425319	2.893	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	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	Benign/Likely_benign	0.0177	nonsynonymous_SNV	exonic	T	0.0170	0.0177	0.0167	-1.5
chr2	179404786	na	A	T	34	0.232628	.	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:CN239310|MedGen:CN239352	Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive	Benign/Likely_benign	0.1471	.	ncRNA_intronic	.	0.1464	0.1443	0.1551	-1.5
chr2	179406003	na	C	A	50	0.504593	.	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:CN239310|MedGen:CN239352	Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive	Benign/Likely_benign	0.2610	.	ncRNA_intronic	.	0.2102	0.2152	0.2295	-1.5
chr2	179406044	TTN	C	T	4	0.00159744	5.197	Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MeSH:D030342,MedGen:C0950123|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	Hypertrophic_cardiomyopathy|Inborn_genetic_diseases|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	Conflicting_interpretations_of_pathogenicity	0.0056	nonsynonymous_SNV	exonic	T	0.0038	0.0029	0.0033	2.5
chr2	179406191	TTN	C	T	34	0.209265	5.326	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	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	Benign/Likely_benign	0.1472	nonsynonymous_SNV	exonic	T	0.1453	0.1439	0.1545	-0.5
chr2	179407097	TTN	G	A	1	.	.	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	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	Conflicting_interpretations_of_pathogenicity	0.0006	synonymous_SNV	exonic	.	0.0006	0.0007	0.0007	0.5
chr2	179407482	TTN	G	A	1	.	4.515	MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202	Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided	Conflicting_interpretations_of_pathogenicity	0.0002	nonsynonymous_SNV	exonic	D	0.0002	0.0002	0.0003	2.5
chr2	179407561	TTN	C	G	1	.	3.495	.	.	.	.	nonsynonymous_SNV	exonic	D	.	.	.	3
chr2	179408713	TTN	A	G	9	0.115815	2.368	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	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	Benign/Likely_benign	0.0343	nonsynonymous_SNV	exonic	T	0.0322	0.0347	0.0300	-1.5
chr2	179408912	na	C	T	1	.	.	.	.	.	1.508e-05	.	ncRNA_intronic	.	.	2.723e-05	.	2
chr2	179410282	TTN	A	G	2	0.00559105	2.442	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	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	Conflicting_interpretations_of_pathogenicity	0.0158	nonsynonymous_SNV	exonic	T	0.0159	0.0174	0.0150	-0.5
chr2	179410666	TTN	G	A	1	0.00599042	2.870	MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202	Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided	Conflicting_interpretations_of_pathogenicity	0.0017	nonsynonymous_SNV	exonic	T	0.0019	0.0016	0.0017	0.5
chr2	179410815	TTN	G	A	1	0.00599042	.	MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736	Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype	Benign	0.0017	synonymous_SNV	exonic	.	0.0019	0.0016	0.0017	-1
chr2	179411011	TTN	T	C	1	0.0223642	1.667	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	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	Benign/Likely_benign	0.0251	nonsynonymous_SNV	exonic	T	0.0205	0.0233	0.0236	-1.5
chr2	179411195	TTN	G	A	1	.	.	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	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	Conflicting_interpretations_of_pathogenicity	0.0007	synonymous_SNV	exonic	.	0.0005	0.0007	0.0006	0.5
chr2	179411207	TTN	A	T	2	0.00179712	2.403	MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202	Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided	Conflicting_interpretations_of_pathogenicity	0.0038	nonsynonymous_SNV	exonic	T	0.0035	0.0030	0.0033	0.5
chr2	179411212	TTN	G	A	1	0.000399361	.	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	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	Conflicting_interpretations_of_pathogenicity	0.0015	synonymous_SNV	exonic	.	0.0015	0.0017	0.0017	0.5
chr2	179411526	TTN	T	C	1	.	1.237	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	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	Uncertain_significance	1.504e-05	nonsynonymous_SNV	exonic	T	.	1.81e-05	.	2
chr2	179412772	TTN	T	C	1	0.000199681	1.276	MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374	Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified	Uncertain_significance	1.5e-05	nonsynonymous_SNV	exonic	T	.	2.694e-05	0	1
chr2	179412966	TTN	G	A	8	0.00898562	.	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	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	Benign/Likely_benign	0.0316	synonymous_SNV	exonic	.	0.0284	0.0312	0.0311	-1.5
chr2	179413110	TTN	G	A	34	0.234225	.	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	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	Benign/Likely_benign	0.1470	synonymous_SNV	exonic	.	0.1460	0.1448	0.1548	-1.5
chr2	179413452	TTN	G	A	7	0.0121805	.	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	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	Conflicting_interpretations_of_pathogenicity	0.0280	synonymous_SNV	exonic	.	0.0315	0.0294	0.0241	-0.5
chr2	179413588	TTN	G	A	1	.	3.064	MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374	Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified	Conflicting_interpretations_of_pathogenicity	4.499e-05	nonsynonymous_SNV	exonic	T	.	2.695e-05	.	2.5
chr2	179414318	TTN	C	T	9	0.15016	2.929	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	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	Benign/Likely_benign	0.0337	nonsynonymous_SNV	exonic	T	0.0308	0.0334	0.0294	-1.5
chr2	179414705	na	A	T	1	0.0223642	.	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	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	Benign/Likely_benign	0.0259	.	ncRNA_intronic	.	0.0196	0.0234	0.0235	-1.5
chr2	179414800	TTN	C	T	1	0.00599042	3.867	MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202	Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided	Conflicting_interpretations_of_pathogenicity	0.0017	nonsynonymous_SNV	exonic	T	0.0019	0.0016	0.0017	0.5
chr2	179414964	TTN	T	A	1	0.000399361	1.999	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	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	Conflicting_interpretations_of_pathogenicity	0.0013	nonsynonymous_SNV	exonic	D	0.0011	0.0011	0.0017	1.5
chr2	179415013	na	G	A	1	0.00599042	.	MedGen:CN169374	not_specified	Benign	0.0017	.	ncRNA_intronic	.	0.0015	0.0016	0.0017	0
chr2	179416556	TTN	A	C	9	0.152356	.	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	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	Benign/Likely_benign	0.0352	synonymous_SNV	exonic	.	0.0328	0.0354	0.0311	-1.5
chr2	179416801	TTN	A	C	1	0.00599042	1.496	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	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	Conflicting_interpretations_of_pathogenicity	0.0017	nonsynonymous_SNV	exonic	T	0.0019	0.0016	0.0017	0.5
chr2	179416846	TTN	TGT	TT	1	.	.	.	.	.	.	stopgain	exonic	.	.	.	.	6
chr2	179417091	TTN	C	T	1	0.0061901	3.757	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	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	Conflicting_interpretations_of_pathogenicity	0.0018	nonsynonymous_SNV	exonic	T	0.0020	0.0017	0.0021	0.5
chr2	179417633	TTN	C	T	1	0.00599042	.	MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736	Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype	Benign	0.0018	synonymous_SNV	exonic	.	0.0019	0.0016	0.0017	-1
chr2	179417756	TTN	AGG	AGGG	1	.	.	.	.	.	.	frameshift_insertion	exonic	.	.	.	.	2
chr2	179418418	TTN	C	T	1	0.000199681	2.754	MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202	Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided	Uncertain_significance	0.0004	nonsynonymous_SNV	exonic	T	0.0008	0.0004	0.0002	0
chr2	179418820	TTN	C	T	1	.	4.793	MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN517202	Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided	Uncertain_significance	0.0002	nonsynonymous_SNV	exonic	T	0.0004	0.0002	6.664e-05	1
chr2	179419748	TTN	CTT	CT	1	.	.	.	.	.	.	frameshift_deletion	exonic	.	.	.	.	2
chr2	179419792	TTN	G	A	2	0.00179712	3.106	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	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	Conflicting_interpretations_of_pathogenicity	0.0039	nonsynonymous_SNV	exonic	T	0.0045	0.0044	0.0077	0.5
chr2	179421609	TTN	C	T	9	0.0842652	.	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	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	Benign/Likely_benign	0.0325	synonymous_SNV	exonic	.	0.0291	0.0324	0.0284	-1.5
chr2	179421694	TTN	A	G	50	0.507188	-0.530	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	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	Benign/Likely_benign	0.2298	nonsynonymous_SNV	exonic	T	0.2206	0.2240	0.2291	-1.5
chr2	179422181	TTN	C	T	2	0.00259585	2.139	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	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	Conflicting_interpretations_of_pathogenicity	0.0022	nonsynonymous_SNV	exonic	T	0.0010	0.0019	0.0041	0.5
chr2	179423099	TTN	A	G	1	0.0223642	.	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	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	Benign/Likely_benign	0.0257	synonymous_SNV	exonic	.	0.0208	0.0233	0.0236	-1.5
chr2	179423177	TTN	G	A	1	.	.	.	.	.	1.502e-05	synonymous_SNV	exonic	.	.	9.013e-06	.	2
chr2	179424048	TTN	T	C	11	0.0161741	.	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	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	Benign/Likely_benign	0.0314	synonymous_SNV	exonic	.	0.0324	0.0312	0.0344	-1.5
chr2	179424558	TTN	C	T	1	0.00279553	.	MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736	Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype	Benign/Likely_benign	0.0117	synonymous_SNV	exonic	.	0.0118	0.0113	0.0102	-1.5
chr2	179424600	TTN	T	C	1	.	.	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	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	Uncertain_significance	.	synonymous_SNV	exonic	.	.	.	.	2
chr2	179425397	TTN	C	T	1	.	3.216	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:CN239310|MedGen:CN239352	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|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive	Uncertain_significance	6.028e-05	nonsynonymous_SNV	exonic	T	0.0001	8.121e-05	0	2
chr2	179426046	TTN	A	G	1	.	.	.	.	.	1.499e-05	synonymous_SNV	exonic	.	.	9.001e-06	6.663e-05	2
chr2	179427186	TTN	A	G	50	0.508786	.	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	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	Benign/Likely_benign	0.2312	synonymous_SNV	exonic	.	0.2228	0.2252	0.2311	-1.5
chr2	179427536	TTN	T	C	50	0.508387	0.936	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	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	Benign/Likely_benign	0.2335	nonsynonymous_SNV	exonic	T	0.2229	0.2261	0.2309	-1.5
chr2	179428119	TTN	C	T	2	0.00778754	.	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	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	Conflicting_interpretations_of_pathogenicity	0.0079	synonymous_SNV	exonic	.	0.0073	0.0077	0.0097	0.5
chr2	179428299	TTN	G	T	1	0.00579073	1.633	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	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	Conflicting_interpretations_of_pathogenicity	0.0017	nonsynonymous_SNV	exonic	T	0.0018	0.0016	0.0017	0.5
chr2	179429004	TTN	G	A	1	0.0221645	.	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	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	Benign/Likely_benign	0.0250	synonymous_SNV	exonic	.	0.0206	0.0232	0.0235	-1.5
chr2	179429301	TTN	A	G	2	0.00299521	.	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	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	Benign/Likely_benign	0.0056	synonymous_SNV	exonic	.	0.0065	0.0058	0.0045	-0.5
chr2	179430060	TTN	G	T	1	0.0221645	.	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	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	Benign/Likely_benign	0.0250	synonymous_SNV	exonic	.	0.0206	0.0232	0.0235	-1.5
chr2	179430460	TTN	A	G	1	.	0.970	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:CN239310|MedGen:CN239352	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|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive	Uncertain_significance	1.499e-05	nonsynonymous_SNV	exonic	T	.	2.709e-05	.	2
chr2	179430997	TTN	G	A	38	0.342252	2.294	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	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	Benign/Likely_benign	0.1691	nonsynonymous_SNV	exonic	T	0.1669	0.1655	0.1745	-1.5
chr2	179431076	TTN	C	G	7	0.00738818	2.573	MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736	Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype	Benign	0.0190	nonsynonymous_SNV	exonic	D	0.0200	0.0198	0.0245	-1
chr2	179431594	TTN	A	G	1	0.0223642	1.803	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	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	Benign/Likely_benign	0.0252	nonsynonymous_SNV	exonic	T	0.0207	0.0234	0.0236	-1.5
chr2	179431797	TTN	A	T	4	0.0926518	.	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	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	Benign/Likely_benign	0.0222	synonymous_SNV	exonic	.	0.0208	0.0209	0.0197	-1.5
chr2	179432185	TTN	A	G	58	0.129992	3.368	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	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	Benign/Likely_benign	0.3013	nonsynonymous_SNV	exonic	T	0.3030	0.3052	0.3241	-1.5
chr2	179432627	TTN	T	C	1	.	2.073	.	.	.	.	nonsynonymous_SNV	exonic	T	.	.	.	2
chr2	179433221	TTN	T	C	1	0.0223642	0.167	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	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	Benign/Likely_benign	0.0251	nonsynonymous_SNV	exonic	T	0.0209	0.0234	0.0236	-1.5
chr2	179433580	TTN	T	C	1	0.0223642	0.998	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	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	Benign/Likely_benign	0.0251	nonsynonymous_SNV	exonic	T	0.0206	0.0233	0.0235	-1.5
chr2	179433643	TTN	G	C	1	0.000199681	2.178	MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN517202	Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided	Conflicting_interpretations_of_pathogenicity	0.0011	nonsynonymous_SNV	exonic	T	0.0017	0.0010	0.0011	0.5
chr2	179434137	TTN	A	G	1	0.000399361	.	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	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	Conflicting_interpretations_of_pathogenicity	0.0038	synonymous_SNV	exonic	.	0.0036	0.0040	0.0027	0.5
chr2	179434139	TTN	A	G	1	0.0223642	1.818	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	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	Benign/Likely_benign	0.0251	nonsynonymous_SNV	exonic	T	0.0207	0.0234	0.0235	-1.5
chr2	179434234	TTN	ACT	AT	2	.	.	.	.	.	.	frameshift_deletion	exonic	.	.	.	.	2
chr2	179434516	TTN	C	T	4	0.0792732	2.413	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	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	Benign/Likely_benign	0.0222	nonsynonymous_SNV	exonic	T	0.0202	0.0208	0.0193	-1.5
chr2	179434571	TTN	T	C	1	.	0.853	.	.	.	0	nonsynonymous_SNV	exonic	T	.	0	0	2
chr2	179435332	TTN	C	T	1	0.000199681	3.593	MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736	Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype	Uncertain_significance	0.0001	nonsynonymous_SNV	exonic	T	0.0001	0.0001	0.0001	1
chr2	179435337	TTN	T	G	9	0.143171	.	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	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	Benign/Likely_benign	0.0351	synonymous_SNV	exonic	.	0.0327	0.0353	0.0307	-1.5
chr2	179435418	TTN	T	C	3	0.00599042	.	MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736	Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype	Benign/Likely_benign	0.0054	synonymous_SNV	exonic	.	0.0059	0.0057	0.0059	0.5
chr2	179436020	TTN	G	A	34	0.208067	3.394	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	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	Benign/Likely_benign	0.1448	nonsynonymous_SNV	exonic	T	0.1442	0.1436	0.1528	-1.5
chr2	179436323	TTN	C	T	1	.	2.702	.	.	.	0	nonsynonymous_SNV	exonic	T	.	0	.	2
chr2	179436343	TTN	C	T	1	.	2.617	.	.	.	0	nonsynonymous_SNV	exonic	T	.	0	.	2
chr2	179436554	TTN	T	C	1	.	2.959	MedGen:C1834481,OMIM:613426|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374	Dilated_cardiomyopathy_1S|Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified	Uncertain_significance	0.0002	nonsynonymous_SNV	exonic	T	0.0001	0.0001	.	1
chr2	179437491	TTN	A	G	2	.	.	MedGen:CN230736	Cardiovascular_phenotype	Likely_benign	1.499e-05	synonymous_SNV	exonic	.	0.0001	1.804e-05	.	2
chr2	179437523	TTN	G	A	2	0.00119808	.	MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736	Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype	Benign/Likely_benign	0.0010	synonymous_SNV	exonic	.	0.0007	0.0010	0.0009	-0.5
chr2	179438093	TTN	T	C	2	.	1.427	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	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	Conflicting_interpretations_of_pathogenicity	0.0012	nonsynonymous_SNV	exonic	T	0.0004	0.0010	0.0003	0.5
chr2	179438235	TTN	T	C	1	0.00599042	.	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	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	Conflicting_interpretations_of_pathogenicity	0.0017	synonymous_SNV	exonic	.	0.0019	0.0017	0.0017	0.5
chr2	179438866	TTN	C	T	9	0.0978435	4.024	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	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	Benign/Likely_benign	0.0326	nonsynonymous_SNV	exonic	T	0.0292	0.0326	0.0286	-1.5
chr2	179439877	TTN	G	A	1	.	2.456	MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145	Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G	Uncertain_significance	.	nonsynonymous_SNV	exonic	D	.	9.09e-06	.	3
chr2	179440029	TTN	G	A	53	0.146565	.	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	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	Benign/Likely_benign	0.2979	synonymous_SNV	exonic	.	0.2975	0.3020	0.3216	-1.5
chr2	179440163	TTN	C	G	2	0.00439297	2.942	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	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	Benign/Likely_benign	0.0126	nonsynonymous_SNV	exonic	T	0.0161	0.0124	0.0160	-1.5
chr2	179440182	TTN	A	G	1	0.000599042	.	MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736	Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype	Benign/Likely_benign	0.0044	synonymous_SNV	exonic	.	0.0051	0.0043	0.0070	-0.5
chr2	179440208	TTN	G	A	1	.	.	MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374	Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified	Conflicting_interpretations_of_pathogenicity	0.0003	synonymous_SNV	exonic	.	0.0002	0.0003	0.0001	1.5
chr2	179440629	TTN	G	T	1	.	.	.	.	.	.	synonymous_SNV	exonic	.	.	.	.	2
chr2	179440876	TTN	G	A	1	.	4.578	.	.	.	.	nonsynonymous_SNV	exonic	T	.	3.606e-05	.	2
chr2	179441038	TTN	C	T	2	0.000199681	1.904	MeSH:D030342,MedGen:C0950123|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736	Inborn_genetic_diseases|Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype	Conflicting_interpretations_of_pathogenicity	0.0017	nonsynonymous_SNV	exonic	T	0.0023	0.0021	0.0022	0.5
chr2	179441148	na	G	C	2	0.00179712	.	MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736	Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype	Benign/Likely_benign	0.0041	.	ncRNA_intronic	.	0.0031	0.0040	0.0032	-0.5
chr2	179441295	TTN	T	C	4	0.00299521	1.439	MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736	Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype	Benign	0.0095	nonsynonymous_SNV	exonic	D	0.0092	0.0085	0.0074	1
chr2	179441386	TTN	G	A	5	0.00299521	.	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	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	Benign/Likely_benign	0.0162	synonymous_SNV	exonic	.	0.0130	0.0157	0.0214	-1.5
chr2	179441932	TTN	G	A	1	0.000998403	2.114	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	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	Conflicting_interpretations_of_pathogenicity	0.0048	nonsynonymous_SNV	exonic	D	0.0052	0.0055	0.0049	1.5
chr2	179441947	TTN	C	T	1	.	3.130	.	.	.	.	nonsynonymous_SNV	exonic	D	.	.	.	3
chr2	179442784	TTN	C	G	1	0.000798722	2.997	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	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	Conflicting_interpretations_of_pathogenicity	0.0027	nonsynonymous_SNV	exonic	D	0.0031	0.0026	0.002	1.5
chr2	179443540	TTN	A	G	9	0.135982	.	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	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	Benign/Likely_benign	0.0351	synonymous_SNV	exonic	.	0.0327	0.0353	0.0309	-1.5
chr2	179443834	TTN	A	G	1	.	.	.	.	.	4.502e-05	synonymous_SNV	exonic	.	.	3.606e-05	.	2
chr2	179443948	TTN	C	T	1	0.00159744	.	MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736	Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype	Benign/Likely_benign	0.0001	synonymous_SNV	exonic	.	.	0.0001	0.0002	-0.5
chr2	179444137	na	A	G	43	0.347444	.	MedGen:CN169374	not_specified	Benign	0.1730	.	ncRNA_intronic	.	0.1688	0.1675	0.1758	-1
chr2	179444289	TTN	A	G	2	0.0283546	.	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	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	Benign/Likely_benign	0.0269	synonymous_SNV	exonic	.	0.0225	0.0251	0.0254	-1.5
chr2	179444437	TTN	T	C	1	.	1.218	MedGen:CN169374	not_specified	Uncertain_significance	1.5e-05	nonsynonymous_SNV	exonic	T	.	3.612e-05	.	2
chr2	179444768	TTN	C	G	230	0.994609	-0.011	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	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	Benign/Likely_benign	0.9997	nonsynonymous_SNV	exonic	T	0.9999	0.9997	0.9999	-1.5
chr2	179444939	TTN	C	T	44	0.351238	1.514	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	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	Benign/Likely_benign	0.1776	nonsynonymous_SNV	exonic	T	0.1769	0.1739	0.1805	-1.5
chr2	179446381	TTN	C	T	1	0.00579073	3.234	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	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	Conflicting_interpretations_of_pathogenicity	0.0225	nonsynonymous_SNV	exonic	T	0.0219	0.0223	0.0175	-0.5
chr2	179447110	TTN	CAT	CAAT	1	.	.	.	.	.	.	stopgain	exonic	.	.	.	.	6
chr2	179447132	TTN	C	T	1	.	.	MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374	Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified	Conflicting_interpretations_of_pathogenicity	0.0001	synonymous_SNV	exonic	.	.	0.0001	.	2.5
chr2	179447755	TTN	G	A	4	0.00159744	.	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	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	Conflicting_interpretations_of_pathogenicity	0.0020	synonymous_SNV	exonic	.	0.0017	0.0017	0.0006	1.5
chr2	179447848	TTN	T	C	55	0.513778	.	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	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	Benign/Likely_benign	0.2377	synonymous_SNV	exonic	.	0.2244	0.2271	0.2316	-1.5
chr2	179448315	na	A	C	2	0.0391374	.	MedGen:CN169374	not_specified	Benign	0.0375	.	ncRNA_exonic	.	0.0227	0.0248	0.0255	-1
chr2	179448395	TTN	G	A	1	.	.	MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374	Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified	Likely_benign	1.602e-05	synonymous_SNV	exonic	.	.	2.711e-05	.	1.5
chr2	179449186	TTN	G	A	1	0.0129792	4.103	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	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	Benign/Likely_benign	0.0036	nonsynonymous_SNV	exonic	T	0.0028	0.0026	0.0016	-1.5
chr2	179449579	TTN	C	T	1	0.00599042	2.898	MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202	Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided	Conflicting_interpretations_of_pathogenicity	0.0017	nonsynonymous_SNV	exonic	D	0.0019	0.0016	0.0017	1.5
chr2	179451420	TTN	G	A	52	0.507588	3.015	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	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	Benign/Likely_benign	0.2301	nonsynonymous_SNV	exonic	T	0.2197	0.2241	0.2281	-1.5
chr2	179451906	TTN	G	A	4	0.0131789	.	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	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	Benign/Likely_benign	0.0060	synonymous_SNV	exonic	.	0.0053	0.0058	0.0059	-1.5
chr2	179453429	TTN	G	A	1	0.00579073	-0.383	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	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	Conflicting_interpretations_of_pathogenicity	0.0143	nonsynonymous_SNV	exonic	T	0.0163	0.0139	0.0127	-0.5
chr2	179453458	TTN	G	A	1	.	.	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	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	Conflicting_interpretations_of_pathogenicity	0.0004	synonymous_SNV	exonic	.	0.0006	0.0003	0.0002	0.5
chr2	179453636	TTN	C	T	1	.	4.103	MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145	Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G	Uncertain_significance	4.587e-05	nonsynonymous_SNV	exonic	T	.	2.707e-05	6.667e-05	2
chr2	179453929	TTN	T	C	1	.	.	.	.	.	.	synonymous_SNV	exonic	.	.	.	.	2
chr2	179454342	TTN	G	C	1	.	1.810	MedGen:CN169374	not_specified	Uncertain_significance	.	nonsynonymous_SNV	exonic	T	.	.	.	2
chr2	179454394	TTN	A	G	54	0.51238	.	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	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	Benign/Likely_benign	0.2326	synonymous_SNV	exonic	.	0.2249	0.2270	0.2314	-1.5
chr2	179454770	TTN	G	C	1	.	22.101	MedGen:C1834481,OMIM:613426	Dilated_cardiomyopathy_1S	Likely_pathogenic	.	stopgain	exonic	.	.	.	.	6.5
chr2	179455207	TTN	T	C	54	0.51238	.	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	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	Benign/Likely_benign	0.2330	synonymous_SNV	exonic	.	0.2242	0.2269	0.2315	-1.5
chr2	179455631	TTN	G	A	1	0.00299521	2.221	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	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	Conflicting_interpretations_of_pathogenicity	0.0022	nonsynonymous_SNV	exonic	D	0.0012	0.0014	0.0007	1.5
chr2	179456603	TTN	G	T	1	0.00219649	.	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	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	Conflicting_interpretations_of_pathogenicity	0.0011	synonymous_SNV	exonic	.	0.0007	0.0005	0.0003	0.5
chr2	179457147	TTN	G	A	37	0.213059	2.159	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	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	Benign/Likely_benign	0.1461	nonsynonymous_SNV	exonic	T	0.1473	0.1444	0.1539	-1.5
chr2	179458591	TTN	C	T	38	0.21246	4.706	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	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	Benign/Likely_benign	0.1465	nonsynonymous_SNV	exonic	T	0.1473	0.1453	0.1540	-1.5
chr2	179458921	TTN	A	C	1	.	2.717	.	.	.	1.502e-05	nonsynonymous_SNV	exonic	T	.	9.022e-06	.	2
chr2	179459335	TTN	C	G	1	.	2.363	.	.	.	.	nonsynonymous_SNV	exonic	T	.	.	.	2
chr2	179460214	na	ATTTTTTTTTTTTTA	ATTTTTTTTTTTTTTA,ATTTTTTTTTTTTA	1	.	.	MedGen:CN169374	not_specified	Benign	0.3517	.	ncRNA_intronic	.	0.1521	0.3846	0.0112	-1
chr2	179460400	TTN	GTCAGATTCACGCTTTT	GT	1	.	.	.	.	.	.	nonframeshift_deletion	exonic	.	.	.	.	2
chr2	179460433	TTN	G	A	1	0.00599042	.	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	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	Conflicting_interpretations_of_pathogenicity	0.0023	synonymous_SNV	exonic	.	0.0018	0.0016	0.0017	0.5
chr2	179462494	TTN	A	G	56	0.126997	.	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	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	Benign/Likely_benign	0.3002	synonymous_SNV	exonic	.	0.3001	0.3054	0.3235	-1.5
chr2	179464373	TTN	G	A	1	.	3.044	MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202	Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided	Uncertain_significance	0.0003	nonsynonymous_SNV	exonic	T	0.0007	0.0003	0.0001	0
chr2	179464527	TTN	T	C	54	0.51278	2.157	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	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	Benign/Likely_benign	0.2340	nonsynonymous_SNV	exonic	T	0.2261	0.2276	0.2319	-1.5
chr2	179466017	TTN	C	T	1	.	.	.	.	.	1.555e-05	synonymous_SNV	exonic	.	.	9.731e-06	.	2
chr2	179466171	TTN	T	C	1	0.00259585	1.823	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	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	Conflicting_interpretations_of_pathogenicity	0.0014	nonsynonymous_SNV	exonic	T	0.0013	0.0005	0.0005	0.5
chr2	179466679	na	C	T	2	0.00239617	.	.	.	.	0.0042	.	ncRNA_intronic	.	0.0051	0.0046	0.0049	0
chr2	179468674	TTN	A	G	1	.	1.807	MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN517202	Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided	Conflicting_interpretations_of_pathogenicity	0.0002	nonsynonymous_SNV	exonic	T	.	0.0002	0	1.5
chr2	179468762	TTN	G	A	1	.	20.022	.	.	.	1.499e-05	stopgain	exonic	.	.	9.003e-06	.	6
chr2	179471759	TTN	A	G	1	.	1.729	.	.	.	.	nonsynonymous_SNV	exonic	T	.	.	6.67e-05	2
chr2	179472223	TTN	A	G	3	0.00459265	2.046	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	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	Benign/Likely_benign	0.0166	nonsynonymous_SNV	exonic	D	0.0143	0.0139	0.0149	-0.5
chr2	179472292	TTN	T	A	1	0.0295527	1.552	.	.	.	0.0254	nonsynonymous_SNV	exonic	T	0.0204	0.0234	0.0228	-1
chr2	179472374	TTN	C	A	1	.	22.395	.	.	.	.	stopgain	exonic	.	.	.	.	6
chr2	179472693	TTN	A	G	1	0.0305511	.	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	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	Benign/Likely_benign	0.0256	synonymous_SNV	exonic	.	0.0205	0.0235	0.0229	-1.5
chr2	179472825	na	T	C	8	0.0107827	.	MedGen:CN169374	not_specified	Benign	0.0247	.	ncRNA_intronic	.	0.0226	0.0225	0.0215	-1
chr2	179472908	TTN	T	C	1	.	0.954	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	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	Uncertain_significance	0.0003	nonsynonymous_SNV	exonic	T	0.0001	0.0002	0.0003	1
chr2	179474401	na	CAA	CA	1	.	.	.	.	.	.	.	ncRNA_intronic	.	.	.	.	2
chr2	179474466	TTN	C	T	1	0.0299521	.	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	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	Benign/Likely_benign	0.0255	synonymous_SNV	exonic	.	0.0204	0.0232	0.0229	-1.5
chr2	179474668	TTN	G	A	4	0.0726837	3.431	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	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	Benign/Likely_benign	0.0140	nonsynonymous_SNV	exonic	T	0.0131	0.0126	0.0117	-1.5
chr2	179476242	TTN	C	T	1	0.000399361	4.034	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	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	Conflicting_interpretations_of_pathogenicity	0.0005	nonsynonymous_SNV	exonic	T	0.0006	0.0003	0.0019	0.5
chr2	179476246	TTN	A	G	1	.	2.398	.	.	.	.	nonsynonymous_SNV	exonic	T	.	.	.	2
chr2	179477267	TTN	T	G	9	0.00638978	1.693	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	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	Benign/Likely_benign	0.0235	nonsynonymous_SNV	exonic	T	0.0198	0.0211	0.0208	-1.5
chr2	179477529	TTN	C	G	1	0.00599042	2.501	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	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	Conflicting_interpretations_of_pathogenicity	0.0018	nonsynonymous_SNV	exonic	T	0.0019	0.0017	0.0017	0.5
chr2	179477717	TTN	A	G	4	0.0736821	.	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	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	Benign/Likely_benign	0.0140	synonymous_SNV	exonic	.	0.0130	0.0126	0.0117	-1.5
chr2	179478639	TTN	T	A	1	0.00599042	.	MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736	Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype	Benign	0.0018	synonymous_SNV	exonic	.	0.0019	0.0017	0.0017	-1
chr2	179478953	TTN	G	A	1	0.000199681	19.352	.	.	.	.	stopgain	exonic	.	.	.	.	5
chr2	179478957	TTN	C	T	1	.	.	.	.	.	.	synonymous_SNV	exonic	.	.	.	.	2
chr2	179479245	TTN	C	T	4	0.072484	.	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	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	Benign/Likely_benign	0.0140	synonymous_SNV	exonic	.	0.0127	0.0126	0.0117	-1.5
chr2	179479607	TTN	G	A	2	0.00159744	2.410	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	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	Conflicting_interpretations_of_pathogenicity	0.0070	nonsynonymous_SNV	exonic	T	0.0033	0.0037	0.0095	0.5
chr2	179479698	na	G	C	1	.	.	.	.	.	.	.	ncRNA_intronic	.	.	.	.	2
chr2	179482089	TTN	C	T	4	0.00299521	4.000	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	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	Conflicting_interpretations_of_pathogenicity	0.0146	nonsynonymous_SNV	exonic	T	0.0088	0.0075	0.0069	-0.5
chr2	179482533	TTN	G	T	1	0.00599042	1.986	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	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	Conflicting_interpretations_of_pathogenicity	0.0018	nonsynonymous_SNV	exonic	T	0.0019	0.0016	0.0017	0.5
chr2	179482763	TTN	C	T	1	0.00139776	2.469	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	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	Conflicting_interpretations_of_pathogenicity	0.0047	nonsynonymous_SNV	exonic	T	0.0048	0.0030	0.0027	0.5
chr2	179484371	TTN	GCTTCTTT	GCTTT	1	.	.	MedGen:CN169374	not_specified	Uncertain_significance	.	nonframeshift_deletion	exonic	.	.	.	.	2
chr2	179484735	TTN	C	T	1	.	3.957	MedGen:CN169374|MedGen:CN230736	not_specified|Cardiovascular_phenotype	Uncertain_significance	0	nonsynonymous_SNV	exonic	D	.	9.142e-06	.	3
chr2	179484758	TTN	G	A	1	0.000199681	.	MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374	Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified	Benign/Likely_benign	4.528e-05	synonymous_SNV	exonic	.	0.0002	2.73e-05	0.0001	0.5
chr2	179485599	TTN	A	G	2	0.0363419	.	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	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	Benign/Likely_benign	0.0271	synonymous_SNV	exonic	.	0.0224	0.0249	0.0248	-1.5
chr2	179485682	TTN	C	A	1	.	3.186	.	.	.	.	nonsynonymous_SNV	exonic	T	.	.	.	2
chr2	179485846	TTN	G	C	1	.	2.918	.	.	.	0.0007	nonsynonymous_SNV	exonic	T	0.0010	0.0002	0.0001	0
chr2	179486223	TTN	C	T	2	0.00299521	3.654	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	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	Benign/Likely_benign	0.0079	nonsynonymous_SNV	exonic	T	0.0096	0.0072	0.0087	-0.5
chr2	179486345	TTN	T	A	1	0.0169728	3.242	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	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	Benign/Likely_benign	0.0015	nonsynonymous_SNV	exonic	T	0.0013	0.0007	0.0007	-1.5
chr2	179486376	TTN	C	T	1	0.00339457	4.195	MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202	Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided	Benign/Likely_benign	0.0018	nonsynonymous_SNV	exonic	T	0.0019	0.0017	0.0017	-0.5
chr2	179497025	TTN	A	G	1	0.0395367	.	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	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	Benign/Likely_benign	0.0062	synonymous_SNV	exonic	.	0.0036	0.0034	0.0043	-1.5
chr2	179497133	TTN	C	T	7	0.00698882	.	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	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	Benign/Likely_benign	0.0346	synonymous_SNV	exonic	.	0.0290	0.0300	0.0430	-1.5
chr2	179498042	TTN	T	C	36	0.0509185	2.465	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	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	Benign/Likely_benign	0.1043	nonsynonymous_SNV	exonic	T	0.1098	0.1075	0.1110	-1.5
chr2	179498236	TTN	G	A	1	.	3.777	.	.	.	3.006e-05	nonsynonymous_SNV	exonic	T	.	9.008e-06	.	2
chr2	179498247	TTN	T	C	1	.	1.656	MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN517202	Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_provided	Uncertain_significance	0.0001	nonsynonymous_SNV	exonic	T	0.0002	9.908e-05	6.666e-05	1
chr2	179498303	TTN	T	C	6	0.109425	.	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	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	Benign/Likely_benign	0.0247	synonymous_SNV	exonic	.	0.0211	0.0241	0.0229	-1.5
chr2	179499179	TTN	A	G	1	0.000399361	3.193	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	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	Conflicting_interpretations_of_pathogenicity	0.0005	nonsynonymous_SNV	exonic	T	0.0007	0.0004	0.0003	0.5
chr2	179499530	TTN	T	C	1	0.0305511	1.512	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	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	Benign/Likely_benign	0.0253	nonsynonymous_SNV	exonic	T	0.0205	0.0232	0.0229	-1.5
chr2	179500790	TTN	A	G	2	0.0365415	.	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	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	Benign/Likely_benign	0.0270	synonymous_SNV	exonic	.	0.0220	0.0249	0.0247	-1.5
chr2	179501351	TTN	G	A	1	0.00119808	.	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	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	Conflicting_interpretations_of_pathogenicity	0.0050	synonymous_SNV	exonic	.	0.0043	0.0044	0.0043	0.5
chr2	179504546	MIR548N	T	C	2	0.000199681	.	.	.	.	0.0005	.	ncRNA_intronic	.	0.0009	0.0005	0.0004	0
chr2	179505367	MIR548N	AAGATTA	AA	2	.	.	.	.	.	.	.	ncRNA_intronic	.	.	.	.	2
chr2	179511767	MIR548N	GTATATATATATATATATATATAC	GTATATATATATATATATATAC	12	.	.	MedGen:CN169374	not_specified	Benign	0.4121	.	ncRNA_intronic	.	.	0.4119	0.0410	-1
chr2	179514420	MIR548N	G	A	1	0.0305511	.	.	.	.	.	.	ncRNA_intronic	.	.	.	0.0229	-1
chr2	179514941	TTN	TTTTCCTCTTCAGGAGCAAT	TT	1	.	.	.	.	.	.	nonframeshift_deletion	exonic	.	.	.	.	2
chr2	179515437	MIR548N	T	G	1	0.0307508	.	.	.	.	0.0321	.	ncRNA_intronic	.	0.0198	0.0220	0.0230	-1
chr2	179515472	MIR548N	G	A	3	0.00159744	.	MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374	Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified	Benign	0.0169	.	ncRNA_intronic	.	0.0091	0.0086	0.0096	-2
chr2	179515483	TTN	G	C	1	0.0393371	0.743	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	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	Benign/Likely_benign	0.0093	nonsynonymous_SNV	exonic	T	0.0034	0.0034	0.0043	-1.5
chr2	179515576	MIR548N	A	G	1	.	.	.	.	.	.	.	ncRNA_intronic	.	.	.	.	2
chr2	179516147	MIR548N	C	T	1	.	.	.	.	.	0.0005	.	ncRNA_intronic	.	0.0001	0.0006	0.0004	0
chr2	179516580	MIR548N	G	C	4	0.00838658	.	.	.	.	0.0298	.	ncRNA_intronic	.	0.0231	0.0211	0.0218	-1
chr2	179516583	MIR548N	G	T	1	.	.	.	.	.	0.0006	.	ncRNA_intronic	.	0.0010	0.0006	0.0003	0
chr2	179516680	TTN	C	G	1	.	2.264	.	.	.	.	nonsynonymous_SNV	exonic	T	.	.	.	2
chr2	179516712	MIR548N	C	A	1	.	.	MedGen:CN169374	not_specified	Likely_benign	1.787e-05	.	ncRNA_intronic	.	.	0	.	2
chr2	179517159	MIR548N	T	A	1	0.00219649	.	.	.	.	0.0012	.	ncRNA_intronic	.	0.0013	0.0013	0.0007	0
chr2	179517213	TTN	A	G	1	.	.	MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374	Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified	Conflicting_interpretations_of_pathogenicity	6.057e-05	synonymous_SNV	exonic	.	.	3.597e-05	.	2.5
chr2	179517223	TTN	G	A	1	.	0.259	MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145	Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G	Uncertain_significance	0	nonsynonymous_SNV	exonic	T	.	0	.	2
chr2	179517605	TTN	G	A	3	0.00638978	1.597	MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145	Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G	Benign	0.0055	nonsynonymous_SNV	exonic	.	0.0068	0.0057	0.0059	0
chr2	179517654	TTN	T	C	2	0.0365415	.	MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145	Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G	Benign	0.0273	synonymous_SNV	exonic	.	.	0.0250	0.0247	-2
chr2	179518003	TTN	A	G	9	0.117013	-0.768	MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145	Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G	Benign	0.0527	nonsynonymous_SNV	exonic	.	.	0.0493	0.0473	-2
chr2	179518077	MIR548N	A	G	2	.	.	.	.	.	0.0243	.	ncRNA_intronic	.	.	0.0177	0.0184	-1
chr2	179518889	MIR548N	G	A	1	0.000199681	.	.	.	.	0.0002	.	ncRNA_intronic	.	.	0.0002	.	1
chr2	179518911	MIR548N	TAGCA	TA	25	.	.	.	.	.	.	.	ncRNA_intronic	.	.	.	.	4
chr2	179518940	TTN	G	A	1	.	-0.958	.	.	.	1.617e-05	nonsynonymous_SNV	exonic	.	.	9.411e-06	.	2
chr2	179522337	MIR548N	G	A	2	0.136581	.	.	.	.	0.0010	.	ncRNA_intronic	.	.	0.0048	0.0086	-1
chr2	179523753	TTN	G	A	2	.	1.355	MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN517202	Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided	Conflicting_interpretations_of_pathogenicity	.	nonsynonymous_SNV	exonic	T	.	0.0011	0.0027	0.5
chr2	179526573	MIR548N	A	G	2	.	.	MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145	Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G	Benign	0.0269	.	ncRNA_intronic	.	0.0080	0.0191	0.0187	-2
chr2	179527095	TTN	G	A	8	0.0091853	0.568	MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145	Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G	Benign	0.0267	nonsynonymous_SNV	exonic	.	.	0.0262	0.0182	-2
chr2	179527122	TTN	T	C	6	.	-0.802	MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145	Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G	Uncertain_significance	.	nonsynonymous_SNV	exonic	.	.	0	0.0001	4
chr2	179528038	TTN	A	C	12	.	-1.764	MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374	Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified	Conflicting_interpretations_of_pathogenicity	0.0084	nonsynonymous_SNV	exonic	T	.	0.0449	0.1261	-0.5
chr2	179528068	TTN	C	A	2	0.057508	1.906	MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374	Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified	Benign	0.0062	nonsynonymous_SNV	exonic	T	0.0045	0.0042	0.0047	-2
chr2	179528335	MIR548N	T	C	6	0.0698882	.	.	.	.	0.0245	.	ncRNA_intronic	.	0.0221	0.0237	0.0226	-1
chr2	179528378	TTN	C	T	12	0.259185	2.900	MedGen:CN169374	not_specified	Benign	0.0632	nonsynonymous_SNV	exonic	T	0.0560	0.0595	0.0572	-1
chr2	179528759	TTN	T	C	1	0.000199681	0.496	MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374	Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified	Benign/Likely_benign	0.0034	nonsynonymous_SNV	exonic	T	0.0040	0.0038	0.0025	-0.5
chr2	179528788	TTN	T	C	1	0.0183706	.	MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145	Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G	Benign	0.0016	synonymous_SNV	exonic	.	0.0013	0.0007	0.0007	-2
chr2	179529158	MIR548N	C	T	1	0.00119808	.	.	.	.	0.0057	.	ncRNA_intronic	.	0.0075	0.0071	0.0062	0
chr2	179529273	MIR548N	A	G	2	0.0367412	.	MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145	Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G	Benign	0.0273	.	ncRNA_intronic	.	0.0218	0.0253	0.0247	-2
chr2	179529497	MIR548N	T	G	2	0.0369409	.	.	.	.	0.0277	.	ncRNA_intronic	.	0.0216	0.0252	0.0247	-1
chr2	179530395	MIR548N	C	T	2	0.00199681	.	.	.	.	0.0044	.	ncRNA_intronic	.	.	0.0017	0.0023	0
chr2	179531543	MIR548N	A	C	2	.	.	MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145	Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G	Benign	0.0015	.	ncRNA_intronic	.	0.0003	0.0007	0.0003	-1
chr2	179531693	MIR548N	A	G	1	0.0309505	.	.	.	.	.	.	ncRNA_intronic	.	.	.	0.0231	-1
chr2	179534225	MIR548N	G	A	5	0.00838658	.	.	.	.	.	.	ncRNA_intronic	.	.	.	0.0220	2
chr2	179538411	TTN	G	A	1	.	2.879	MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145	Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G	Uncertain_significance	0	nonsynonymous_SNV	exonic	T	.	0	0	2
chr2	179538492	MIR548N	C	T	1	0.000798722	.	.	.	.	.	.	ncRNA_intronic	.	0.0016	.	0.0054	0
chr2	179539812	TTN	T	G	1	0.00599042	1.654	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	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	Conflicting_interpretations_of_pathogenicity	0.0018	nonsynonymous_SNV	exonic	T	0.0018	0.0017	0.0017	0.5
chr2	179539903	MIR548N	C	A	51	0.471246	.	.	.	.	.	.	ncRNA_intronic	.	0.2126	.	0.2194	-1
chr2	179541899	TTN	C	G	164	0.773363	.	.	.	.	0.7155	.	intronic	.	.	0.7180	0.7498	-1
chr2	179542060	TTN	GTCATATATATATATATATATATATATATG	GTCATATATATATATATATATATATATATATG,TTCATATATATATATATATATATATATATG	164	.	.	.	.	.	.	.	intronic	.	.	.	.	4
chr2	179543195	TTN	C	T	2	.	4.063	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	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	Conflicting_interpretations_of_pathogenicity	0.0009	nonsynonymous_SNV	exonic	D	0.0001	0.0005	0.0001	1.5
chr2	179543217	TTN	C	T	40	0.238419	.	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	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	Benign/Likely_benign	0.2297	synonymous_SNV	exonic	.	0.1604	0.1558	0.1636	-1.5
chr2	179544055	TTN	T	C	1	0.00359425	.	MedGen:CN169374	not_specified	Benign	0.0015	.	intronic	.	0.0013	0.0006	0.0006	0
chr2	179544427	TTN	A	G	1	0.00599042	.	MedGen:CN169374	not_specified	Benign	0.0020	.	intronic	.	0.0017	0.0017	0.0017	0
chr2	179544448	TTN	G	A	1	.	.	.	.	.	.	.	intronic	.	.	1.113e-05	.	2
chr2	179544685	TTN	CTCTTCTTCTTCTTCTA	CTCTTCTTCTTCTTCTTCTA,CTCTTCTTCTTCTA	1	.	.	MedGen:CN169374|MedGen:CN517202	not_specified|not_provided	Conflicting_interpretations_of_pathogenicity	0.0002	nonframeshift_deletion	exonic	.	0.0019	0.0002	0.0001	0
chr2	179544962	TTN	A	C	2	.	.	.	.	.	.	.	intronic	.	.	.	.	2
chr2	179544983	TTN	C	G	1	0.00159744	1.435	MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN517202	Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided	Likely_benign	0.0022	nonsynonymous_SNV	exonic	T	0.0033	0.0025	0.0019	-0.5
chr2	179545859	TTN	C	T	55	0.125998	2.302	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	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	Benign/Likely_benign	0.3005	nonsynonymous_SNV	exonic	T	0.3031	0.3030	0.3243	-1.5
chr2	179547455	TTN	T	C	2	0.00459265	.	MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736	Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype	Benign/Likely_benign	0.0081	synonymous_SNV	exonic	.	0.0086	0.0090	0.0085	-0.5
chr2	179548694	TTN	GATTTTTTTTTTTTTTTTAAGAG	GATTTTTTTTTTTTTTTAAGAG,GATTTTTTTTCTTTTTTTAAGAG,TTTTTTTTTTTTTTTTTTAAGAG,TATTTTTTTTTTTTTTTTAAGAG,GATTTTTTTTTTTTTTAAGAG	2	.	.	.	.	.	0.0141	.	intronic	.	.	0.0177	0.0006	-1
chr2	179548695	TTN	ATTTTTTTTTTTTTTTTA	ATTTTTTTTTTTTTTTA	19	.	.	.	.	.	0.4608	.	intronic\x3bintronic	.	.	0.4476	0.1442	-1
chr2	179548704	TTN	T	C	1	0.000798722	.	.	.	.	0.0031	.	intronic\x3bintronic	.	0.0022	0.0031	0.0030	0
chr2	179549407	TTN	G	A	1	0.00179712	2.586	MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202	Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided	Conflicting_interpretations_of_pathogenicity	0.0077	nonsynonymous_SNV	exonic	T	0.0059	0.0066	0.0061	0.5
chr2	179549500	TTN	A	G	1	0.00599042	.	.	.	.	0.0018	.	intronic	.	0.0020	0.0017	0.0018	0
chr2	179549608	TTN	GAG	GAAG	1	0.00599042	.	.	.	.	0.0023	.	intronic	.	0.0022	0.0016	0.0017	0
chr2	179550069	TTN	T	C	3	0.0329473	.	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:CN239310|MedGen:CN239352	Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive	Benign/Likely_benign	0.0102	.	intronic	.	0.0089	0.0093	0.0072	-1.5
chr2	179550287	TTN	G	C	1	0.00359425	1.478	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	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	Conflicting_interpretations_of_pathogenicity	0.0015	nonsynonymous_SNV	exonic	T	0.0013	0.0006	0.0006	0.5
chr2	179553393	TTN	C	T	1	.	.	MedGen:CN169374	not_specified	Benign/Likely_benign	0.0008	.	intronic	.	0.0010	0.0002	0.0002	0
chr2	179554002	TTN	A	C	1	.	.	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	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	Uncertain_significance	.	.	intronic	.	.	.	.	2
chr2	179554305	TTN	C	T	66	0.413339	4.097	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	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	Benign/Likely_benign	0.3697	nonsynonymous_SNV	exonic	T	0.3605	0.3561	0.3821	-1.5
chr2	179554339	TTN	T	C	2	0.00139776	.	MedGen:CN169374	not_specified	Benign	0.0050	.	intronic	.	0.0056	0.0049	0.0031	0
chr2	179554549	TTN	G	C	1	0.000599042	1.700	MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374	Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified	Conflicting_interpretations_of_pathogenicity	0.0005	nonsynonymous_SNV	exonic	T	0.0001	0.0004	0.0003	0.5
chr2	179554624	TTN	C	T	1	.	5.453	EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374	Primary_dilated_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified	Conflicting_interpretations_of_pathogenicity	0.0005	.	splicing	.	0.0006	0.0007	0.0006	4.5
chr2	179558366	TTN	T	C	53	0.477835	1.533	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	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	Benign/Likely_benign	0.2457	nonsynonymous_SNV	exonic	T	0.2286	0.2271	0.2289	-1.5
chr2	179559353	TTN	C	T	1	0.000399361	2.938	MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN517202	Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided	Likely_benign	0.0049	nonsynonymous_SNV	exonic	T	0.0028	0.0034	0.0025	-0.5
chr2	179563637	TTN	G	T	1	.	.	MedGen:CN169374	not_specified	Uncertain_significance	.	synonymous_SNV	exonic	.	.	2.198e-05	.	2
chr2	179563643	TTN	TAAAAAAAAAAAAAAAGAAAAAAAAAGAAAAAATATTTCTG	AAAAAAAAAAAAAAAAGAAAAAAAAAGAAAAAATATTTCTG,TAAAAAAAAAAAAAAGAAAAAAAAAGAAAAAATATTTCTG	1	.	.	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	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	Uncertain_significance	0.3114	.	intronic	.	.	0.3336	0.0173	-1
chr2	179563659	TTN	G	A	1	.	.	MedGen:CN169374	not_specified	Benign	0.0097	.	intronic	.	.	0.0687	0.0062	-1
chr2	179563669	TTN	G	A	1	.	.	.	.	.	0.0029	.	intronic	.	.	0.0043	0.0026	0
chr2	179563702	TTN	CTTTC	TTTTC,ATTTC,ATTTA	1	.	.	.	.	.	.	.	intronic	.	.	.	.	2
chr2	179566802	TTN	TAAAAAAAAAATGATAT	TAAAAAAAAAAATGATAT,TAAAAAAAAATGATAT	1	.	.	.	.	.	0.0190	.	intronic	.	0.0081	0.0033	0.0003	-1
chr2	179567225	TTN	C	T	1	.	4.387	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	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	Uncertain_significance	0.0004	nonsynonymous_SNV	exonic	T	0.0002	0.0004	0.0004	1
chr2	179567230	TTN	A	G	1	0.00599042	.	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	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	Conflicting_interpretations_of_pathogenicity	0.0017	synonymous_SNV	exonic	.	0.0019	0.0016	0.0017	0.5
chr2	179567340	TTN	G	A	4	0.00119808	2.770	EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN517202	Primary_dilated_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided	Conflicting_interpretations_of_pathogenicity	0.0053	nonsynonymous_SNV	exonic	T	0.0041	0.0054	0.0109	1.5
chr2	179567398	TTN	A	C	1	0.00339457	.	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	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	Conflicting_interpretations_of_pathogenicity	0.0023	.	intronic	.	0.0012	0.0014	0.0009	0.5
chr2	179569387	TTN	T	A	9	0.0105831	2.427	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	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	Benign/Likely_benign	0.0259	nonsynonymous_SNV	exonic	T	0.0266	0.0255	0.0296	-1.5
chr2	179569400	TTN	C	T	2	0.0842652	.	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	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	Benign/Likely_benign	0.0295	synonymous_SNV	exonic	.	0.0243	0.0255	0.0258	-1.5
chr2	179569436	TTN	A	G	2	0.096845	.	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	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	Benign/Likely_benign	0.0304	synonymous_SNV	exonic	.	0.0248	0.0259	0.0262	-1.5
chr2	179569583	TTN	T	A	1	0.00599042	.	.	.	.	0.0017	.	intronic	.	0.0018	0.0017	0.0017	0
chr2	179569705	TTN	A	G	1	0.00599042	.	MedGen:CN169374	not_specified	Benign	0.0017	.	intronic	.	0.0018	0.0016	0.0017	0
chr2	179571423	TTN	G	T	2	0.0101837	.	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	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	Benign/Likely_benign	0.0033	synonymous_SNV	exonic	.	0.0026	0.0031	0.0032	-1.5
chr2	179571448	TTN	A	G	8	0.127396	2.835	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	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	Benign/Likely_benign	0.0280	nonsynonymous_SNV	exonic	T	0.0261	0.0270	0.0260	-1.5
chr2	179571697	TTN	C	T	7	0.0942492	.	MedGen:CN169374	not_specified	Benign	0.0370	.	intronic	.	0.0239	0.0261	0.025	-1
chr2	179571714	TTN	A	G	1	.	.	.	.	.	0	.	intronic	.	.	0	6.663e-05	2
chr2	179574384	TTN	C	T	2	0.0752796	.	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	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	Benign/Likely_benign	0.0289	synonymous_SNV	exonic	.	0.0237	0.0259	0.0255	-1.5
chr2	179575357	TTN	G	C	1	.	.	.	.	.	.	.	intronic	.	.	.	.	2
chr2	179575511	TTN	C	T	14	0.0273562	3.915	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	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	Benign/Likely_benign	0.0518	nonsynonymous_SNV	exonic	T	0.0570	0.0552	0.0558	-1.5
chr2	179575832	TTN	G	A	1	0.000199681	.	MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374	Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified	Conflicting_interpretations_of_pathogenicity	0.0005	synonymous_SNV	exonic	.	0.0006	0.0005	0.0003	0.5
chr2	179578012	TTN	T	C	1	0.000199681	1.181	Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|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	Hypertrophic_cardiomyopathy|Primary_familial_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	Conflicting_interpretations_of_pathogenicity	0.0007	nonsynonymous_SNV	exonic	T	0.0005	0.0004	0.0004	0.5
chr2	179578108	TTN	TACAAAACAAAACAAAACAAAACAAAACAAAAAAAACAAAGGACAACAAT	TACAAAACAAAACAAAACAAAACAAAACAAAACAAAAAAAACAAAGGACAACAAT	27	0.355431	.	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	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	Benign/Likely_benign	0.1171	.	intronic	.	0.0056	0.1243	0.1734	-1.5
chr2	179578703	TTN	C	T	2	0.00459265	.	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	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	Conflicting_interpretations_of_pathogenicity	0.0039	synonymous_SNV	exonic	.	0.0034	0.0034	0.0046	0.5
chr2	179578704	TTN	G	A	7	0.111422	2.101	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	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	Benign/Likely_benign	0.0277	nonsynonymous_SNV	exonic	T	0.0256	0.0265	0.0254	-1.5
chr2	179578730	TTN	G	A	50	0.444688	.	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	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	Benign/Likely_benign	0.2023	synonymous_SNV	exonic	.	0.2012	0.2022	0.2036	-1.5
chr2	179578891	TTN	T	C	1	0.000199681	1.831	MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN517202	Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided	Conflicting_interpretations_of_pathogenicity	0.0011	nonsynonymous_SNV	exonic	T	0.0010	0.0012	0.0012	0.5
chr2	179579093	TTN	T	C	41	0.247005	-0.712	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	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	Benign/Likely_benign	0.1458	nonsynonymous_SNV	exonic	T	0.1506	0.1501	0.1514	-1.5
chr2	179579212	TTN	T	C	50	0.483427	.	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	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	Benign/Likely_benign	0.2041	synonymous_SNV	exonic	.	0.2019	0.2031	0.2030	-1.5
chr2	179579694	TTN	T	A	2	0.0754792	.	MedGen:CN169374	not_specified	Benign	0.0293	.	intronic	.	0.0237	0.0260	0.0258	-1
chr2	179579822	TTN	T	A	50	0.444489	.	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	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	Benign/Likely_benign	0.2020	synonymous_SNV	exonic	.	0.2005	0.2025	0.2030	-1.5
chr2	179579977	TTN	G	A	9	0.00938498	3.568	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	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	Conflicting_interpretations_of_pathogenicity	0.0207	nonsynonymous_SNV	exonic	T	0.0223	0.0211	0.0256	-0.5
chr2	179580210	TTN	G	A	7	0.111422	.	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:CN239310|MedGen:CN239352	Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive	Benign/Likely_benign	0.0278	.	intronic	.	0.0251	0.0263	0.0254	-1.5
chr2	179580434	TTN	A	G	1	0.0507188	.	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	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	Benign/Likely_benign	0.0395	synonymous_SNV	exonic	.	0.0215	0.024	0.0236	-1.5
chr2	179580481	TTN	T	C	1	.	2.960	MedGen:CN169374	not_specified	Uncertain_significance	0.0006	nonsynonymous_SNV	exonic	T	0.0006	0.0002	0.0003	0
chr2	179581835	TTN	C	A	1	0.0513179	0.191	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	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	Benign/Likely_benign	0.0268	nonsynonymous_SNV	exonic	T	0.0214	0.0237	0.0236	-1.5
chr2	179581971	TTN	C	T	1	0.00599042	2.691	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	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	Conflicting_interpretations_of_pathogenicity	0.0018	nonsynonymous_SNV	exonic	T	0.0019	0.0017	0.0017	0.5
chr2	179582063	TTN	A	T	1	0.028754	0.979	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	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	Benign/Likely_benign	0.0024	nonsynonymous_SNV	exonic	T	0.0027	0.0022	0.0023	-1.5
chr2	179582327	TTN	C	T	41	0.24381	1.700	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	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	Benign/Likely_benign	0.1461	nonsynonymous_SNV	exonic	T	0.1508	0.1496	0.1515	-1.5
chr2	179582537	TTN	G	T	50	0.444888	2.566	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	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	Benign/Likely_benign	0.2037	nonsynonymous_SNV	exonic	T	0.2018	0.2023	0.2029	-1.5
chr2	179582781	TTN	C	T	1	0.000199681	-0.035	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	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	Conflicting_interpretations_of_pathogenicity	0.0013	nonsynonymous_SNV	exonic	T	0.0008	0.0011	0.0009	0.5
chr2	179582824	TTN	C	T	4	0.0235623	.	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	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	Benign/Likely_benign	0.0109	synonymous_SNV	exonic	.	0.0069	0.0099	0.0077	-1.5
chr2	179582853	TTN	T	C	5	0.0121805	1.513	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	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	Benign/Likely_benign	0.0297	nonsynonymous_SNV	exonic	T	0.0308	0.0299	0.0260	-1.5
chr2	179583317	TTN	G	A	35	0.0734824	.	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	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	Benign/Likely_benign	0.1051	synonymous_SNV	exonic	.	0.1101	0.1091	0.1114	-1.5
chr2	179583496	TTN	T	G	41	0.238818	0.820	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	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	Benign/Likely_benign	0.1454	nonsynonymous_SNV	exonic	T	0.1517	0.1501	0.1519	-1.5
chr2	179583967	TTN	G	A	1	0.00599042	.	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	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	Conflicting_interpretations_of_pathogenicity	0.0018	synonymous_SNV	exonic	.	0.0019	0.0017	0.0017	0.5
chr2	179584831	TTN	G	C	1	0.00599042	0.555	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	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	Conflicting_interpretations_of_pathogenicity	0.0018	nonsynonymous_SNV	exonic	T	0.0020	0.0017	0.0017	0.5
chr2	179584914	TTN	C	G	1	.	1.662	MedGen:CN169374	not_specified	Uncertain_significance	0.0004	nonsynonymous_SNV	exonic	T	0.0011	0.0003	0.0005	0
chr2	179585257	TTN	G	C	1	0.00499201	1.967	MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202	Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided	Benign/Likely_benign	0.0025	nonsynonymous_SNV	exonic	T	0.0021	0.0021	0.0016	-0.5
chr2	179585266	TTN	C	T	230	0.982029	.	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	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	Benign/Likely_benign	0.9997	synonymous_SNV	exonic	.	0.9999	0.9996	0.9999	-1.5
chr2	179585312	TTN	G	A	2	0.00199681	3.099	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	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	Benign/Likely_benign	0.0080	nonsynonymous_SNV	exonic	T	0.0092	0.0072	0.0087	-0.5
chr2	179585393	TTN	A	G	50	0.460064	.	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	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	Benign/Likely_benign	0.2124	.	intronic	.	0.1985	0.2036	0.2028	-1.5
chr2	179586604	TTN	C	G	15	0.0201677	2.558	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	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	Benign/Likely_benign	0.0360	nonsynonymous_SNV	exonic	T	0.0386	0.0368	0.0401	-1.5
chr2	179587014	TTN	T	A	1	.	.	.	.	.	1.561e-05	synonymous_SNV	exonic	.	.	0	.	2
chr2	179587130	TTN	C	G	41	0.247005	2.840	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	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	Benign/Likely_benign	0.1457	nonsynonymous_SNV	exonic	T	0.1523	0.1500	0.1519	-1.5
chr2	179587546	TTN	A	G	7	0.0940495	.	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	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	Benign/Likely_benign	0.0270	synonymous_SNV	exonic	.	0.0242	0.0264	0.0253	-1.5
chr2	179588045	TTN	G	A	1	.	2.479	MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374	Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified	Conflicting_interpretations_of_pathogenicity	4.54e-05	nonsynonymous_SNV	exonic	T	.	3.655e-05	.	2.5
chr2	179588578	TTN	C	T	1	.	.	.	.	.	.	.	intronic	.	.	.	.	2
chr2	179588813	TTN	C	T	1	0.00379393	2.969	MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736	Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype	Benign/Likely_benign	0.0014	nonsynonymous_SNV	exonic	D	0.0011	0.0005	0.0003	0.5
chr2	179589058	TTN	G	A	1	0.0357428	2.818	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	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	Benign/Likely_benign	0.0040	nonsynonymous_SNV	exonic	T	0.0031	0.0029	0.0041	-1.5
chr2	179589241	TTN	G	A	6	0.0515176	3.167	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	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	Benign/Likely_benign	0.0198	nonsynonymous_SNV	exonic	T	0.0190	0.0195	0.0199	-1.5
chr2	179590329	TTN	C	T	2	0.00658946	3.112	MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736	Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype	Benign	0.0163	nonsynonymous_SNV	exonic	D	0.0173	0.0179	0.0154	-1
chr2	179590708	TTN	C	T	1	0.000199681	3.367	MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN517202	Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided	Conflicting_interpretations_of_pathogenicity	0.0015	nonsynonymous_SNV	exonic	T	0.0015	0.0017	0.0016	0.5
chr2	179590740	TTN	A	G	1	.	1.964	.	.	.	.	nonsynonymous_SNV	exonic	T	.	.	.	2
chr2	179591917	TTN	T	C	1	0.00599042	-1.660	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	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	Conflicting_interpretations_of_pathogenicity	0.0018	nonsynonymous_SNV	exonic	T	0.0019	0.0017	0.0017	0.5
chr2	179593352	TTN	C	T	8	0.0932508	1.515	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	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	Benign/Likely_benign	0.0275	nonsynonymous_SNV	exonic	T	0.0246	0.0266	0.0253	-1.5
chr2	179593503	TTN	G	T	1	0.00159744	0.886	MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN517202	Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided	Benign/Likely_benign	0.0032	nonsynonymous_SNV	exonic	T	0.0022	0.0029	0.0032	-0.5
chr2	179593862	TTN	G	A	1	0.0241613	.	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	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	Benign/Likely_benign	0.0067	synonymous_SNV	exonic	.	0.0065	0.0064	0.0065	-1.5
chr2	179594059	TTN	T	C	1	0.00599042	0.545	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	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	Conflicting_interpretations_of_pathogenicity	0.0018	nonsynonymous_SNV	exonic	T	0.0019	0.0017	0.0017	0.5
chr2	179594107	TTN	G	C	1	0.000599042	0.841	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	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	Conflicting_interpretations_of_pathogenicity	0.0048	nonsynonymous_SNV	exonic	T	0.0050	0.0030	0.0027	0.5
chr2	179595064	TTN	T	A	1	.	1.402	.	.	.	1.662e-05	nonsynonymous_SNV	exonic	T	.	9.31e-06	.	2
chr2	179595117	TTN	C	G	45	0.348043	.	MedGen:CN169374	not_specified	Benign	0.1836	.	intronic	.	0.1789	0.1770	0.1788	-1
chr2	179595808	TTN	C	T	1	.	3.202	.	.	.	1.499e-05	nonsynonymous_SNV	exonic	T	.	8.969e-06	.	2
chr2	179596554	TTN	T	C	2	0.00199681	-1.446	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	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	Conflicting_interpretations_of_pathogenicity	0.0086	nonsynonymous_SNV	exonic	T	0.0072	0.0081	0.0063	0.5
chr2	179597590	TTN	T	C	1	0.000199681	1.652	MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN517202	Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided	Conflicting_interpretations_of_pathogenicity	0.0013	nonsynonymous_SNV	exonic	T	0.0010	0.0012	0.0008	0.5
chr2	179597600	TTN	C	T	4	0.00359425	2.783	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	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	Conflicting_interpretations_of_pathogenicity	0.0080	nonsynonymous_SNV	exonic	T	0.0091	0.0085	0.0094	1.5
chr2	179597998	TTN	C	T	1	.	1.999	.	.	.	.	nonsynonymous_SNV	exonic	T	.	.	.	2
chr2	179598139	TTN	C	A	1	.	3.544	.	.	.	.	nonsynonymous_SNV	exonic	D	.	.	.	3
chr2	179598228	TTN	A	G	21	0.0295527	.	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	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	Benign/Likely_benign	0.0786	synonymous_SNV	exonic	.	0.0792	0.0797	0.0776	-1.5
chr2	179599473	TTN	C	G	3	0.00339457	1.514	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	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	Conflicting_interpretations_of_pathogenicity	0.0039	nonsynonymous_SNV	exonic	T	0.0038	0.0037	0.0037	1.5
chr2	179599667	TTN	G	C	4	0.00439297	1.674	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	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	Benign/Likely_benign	0.0130	nonsynonymous_SNV	exonic	T	0.0090	0.0092	0.0107	-1.5
chr2	179600303	TTN	G	C	2	0.00179712	1.289	MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202	Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided	Conflicting_interpretations_of_pathogenicity	0.0043	nonsynonymous_SNV	exonic	T	0.0035	0.0032	0.0037	0.5
chr2	179600475	TTN	C	T	2	0.00179712	2.746	MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202	Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided	Benign/Likely_benign	0.0044	nonsynonymous_SNV	exonic	T	0.0033	0.0040	0.0096	-0.5
chr2	179600563	TTN	G	A	230	0.981829	.	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	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	Benign/Likely_benign	0.9997	synonymous_SNV	exonic	.	0.9999	0.9996	0.9999	-1.5
chr2	179600648	TTN	C	T	3	0.144768	0.315	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	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	Benign/Likely_benign	0.0500	nonsynonymous_SNV	exonic	T	0.0479	0.0473	0.0471	-1.5
chr2	179602948	TTN	G	T	2	0.000199681	2.639	MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202	Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided	Uncertain_significance	0.0005	nonsynonymous_SNV	exonic	T	0.0009	0.0005	0.0004	0
chr2	179603847	TTN	ATT	AT	1	.	.	.	.	.	.	.	intronic	.	.	.	.	2
chr2	179604101	TTN	C	T	1	0.00599042	2.576	MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202	Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided	Benign/Likely_benign	0.0018	nonsynonymous_SNV	exonic	T	0.0019	0.0017	0.0017	-0.5
chr2	179604160	TTN	T	G	2	0.076278	-1.298	MedGen:CN169374|MedGen:CN230736	not_specified|Cardiovascular_phenotype	Benign	0.0459	nonsynonymous_SNV	exonic	T	0.0431	0.0444	0.0441	-1
chr2	179604366	TTN	T	G	2	0.0760783	-0.781	MedGen:CN169374|MedGen:CN230736	not_specified|Cardiovascular_phenotype	Benign	0.0459	nonsynonymous_SNV	exonic	T	0.0435	0.0445	0.0440	-1
chr2	179604742	TTN	G	A	2	0.0766773	.	MedGen:CN169374|MedGen:CN230736	not_specified|Cardiovascular_phenotype	Benign	0.0459	synonymous_SNV	exonic	.	0.0433	0.0444	0.0441	-1
chr2	179605180	TTN	C	T,A	2	0.0760783	.	MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736	Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype	Benign	0.0459	synonymous_SNV	exonic	.	.	0.0443	0.0442	-2
chr2	179605380	TTN	T	A	2	0.00299521	-0.005	MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736	Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype	Benign	0.0057	nonsynonymous_SNV	exonic	T	0.0067	0.0059	0.0044	-1
chr2	179605705	TTN	A	G	2	0.0760783	.	MedGen:CN169374|MedGen:CN230736	not_specified|Cardiovascular_phenotype	Benign	0.0459	synonymous_SNV	exonic	.	0.0437	0.0444	0.0442	-1
chr2	179605725	TTN	T	C	7	0.0161741	-1.264	MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736	Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype	Benign	0.0184	nonsynonymous_SNV	exonic	T	0.0185	0.0195	0.0161	-2
chr2	179605912	TTN	C	T	1	.	-0.222	.	.	.	9.018e-05	nonsynonymous_SNV	exonic	T	.	9.016e-05	6.662e-05	2
chr2	179606538	TTN	G	A	11	0.273163	1.979	MedGen:CN169374|MedGen:CN230736	not_specified|Cardiovascular_phenotype	Benign	0.0854	nonsynonymous_SNV	exonic	T	0.0732	0.0740	0.0723	-1
chr2	179610426	TTN	C	A	1	.	.	.	.	.	.	synonymous_SNV	exonic	.	.	.	.	2
chr2	179611711	TTN	C	A	2	0.0772764	0.758	MedGen:CN169374	not_specified	Benign	0.0459	nonsynonymous_SNV	exonic	T	0.0433	0.0444	0.0441	-1
chr2	179611847	TTN	TCTCC	GCTCT	1	.	.	.	.	.	.	nonframeshift_substitution	exonic	.	.	.	.	2
chr2	179612373	TTN	A	C	1	0.00579073	.	MedGen:CN169374	not_specified	Benign	0.0032	synonymous_SNV	exonic	.	0.0037	0.0032	0.0023	0
chr2	179612383	TTN	C	T	6	0.0145767	1.322	MedGen:CN169374	not_specified	Benign	0.0561	nonsynonymous_SNV	exonic	T	0.0582	0.0580	0.0492	-1
chr2	179612635	TTN	C	T	1	0.00599042	0.214	MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN517202	Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided	Benign/Likely_benign	0.0024	nonsynonymous_SNV	exonic	T	0.0022	0.0019	0.0019	-0.5
chr2	179612913	TTN	G	A	2	0.000199681	.	MedGen:CN169374	not_specified	Benign/Likely_benign	0.0020	synonymous_SNV	exonic	.	0.0020	0.0017	0.0021	0
chr2	179613179	TTN	G	A	1	0.00119808	0.117	MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:CN169374|MedGen:CN517202	Distal_myopathy_Markesbery-Griggs_type|not_specified|not_provided	Likely_benign	0.0032	nonsynonymous_SNV	exonic	T	0.0043	0.0034	0.0045	0
chr2	179613191	TTN	T	C	5	0.00259585	0.041	MedGen:CN169374	not_specified	Benign	0.0107	nonsynonymous_SNV	exonic	T	0.0093	0.0085	0.0068	-1
chr2	179613651	TTN	G	A	8	0.0109824	.	MedGen:CN169374	not_specified	Benign	0.0288	synonymous_SNV	exonic	.	0.0356	0.0331	0.0291	-1
chr2	179614253	TTN	C	A	1	.	-0.029	.	.	.	.	nonsynonymous_SNV	exonic	T	.	0	.	2
chr2	179614952	TTN	A	G	230	0.97504	.	MedGen:CN169374	not_specified	Benign	0.9997	synonymous_SNV	exonic	.	0.9992	0.9998	0.9999	-1
chr2	179615278	TTN	A	G	1	0.000399361	1.829	MedGen:CN169374|MedGen:CN517202	not_specified|not_provided	Likely_benign	0.0024	nonsynonymous_SNV	exonic	T	0.0030	0.0030	0.0026	0
chr2	179615321	TTN	G	A	1	.	0.587	.	.	.	1.543e-05	stopgain	exonic	.	.	9.106e-06	0	6
chr2	179615811	TTN	A	T	1	.	-0.078	.	.	.	.	nonsynonymous_SNV	exonic	T	.	.	.	2
chr2	179615887	TTN	T	C	220	0.733027	0.654	MedGen:CN169374	not_specified	Benign	0.9251	nonsynonymous_SNV	exonic	T	0.9303	0.9291	0.9301	-1
chr2	179615931	TTN	C	G	230	0.97504	0.163	MedGen:CN169374	not_specified	Benign	0.9997	nonsynonymous_SNV	exonic	T	0.9992	0.9998	0.9999	-1
chr2	179615994	TTN	T	C	230	0.97504	.	MedGen:CN169374	not_specified	Benign	0.9997	synonymous_SNV	exonic	.	0.9992	0.9998	0.9998	-1
chr2	179616210	TTN	G	A	2	0.000998403	.	MedGen:CN169374	not_specified	Benign/Likely_benign	0.0012	synonymous_SNV	exonic	.	0.0017	0.0015	0.0019	0
chr2	179616717	TTN	G	A	1	.	.	MedGen:CN169374	not_specified	Likely_benign	7.559e-05	synonymous_SNV	exonic	.	.	4.826e-05	0	2
chr2	179616768	TTN	TGGA	TGT	3	.	.	.	.	.	.	.	intronic	.	.	.	.	3
chr2	179616769	TTN	GGAAAAAAAAAAAAAAAC	GTAAAAAAAAAAAAAC,TGAAAAAAAAAAAAAAAC,TTAAAAAAAAAAAAAAAC,GTAAAAAAAAAAAAAAAC,GGAAAAAAAAAAAAAAC	3	0.526158	.	MedGen:C1858763,OMIM:604145|MedGen:C1861065,OMIM:613765|MedGen:CN169374	Dilated_cardiomyopathy_1G|Familial_hypertrophic_cardiomyopathy_9|not_specified	Conflicting_interpretations_of_pathogenicity	0.4633	.	intronic\x3bintronic	.	.	0.4596	0.6469	-0.5
chr2	179616770	TTN	GAAAAAAAAAAAAAAAC	TAAAAAAAAAAAAAAAC,GAAAAAAAAAAAAAAC,GAAAAAAAAAAAAAC,GTAAAAAAAAAAAAAAC	3	.	.	.	.	.	.	.	intronic	.	.	.	.	3
chr2	179620949	TTN	CAC	CAT,AAC	3	.	3.397	.	.	.	.	nonsynonymous_SNV	exonic	T	.	.	.	3
chr2	179620950	TTN	AC	AT	2	.	.	.	.	.	.	frameshift_deletion\x3bframeshift_deletion	exonic\x3bexonic	.	.	.	.	2
chr2	179620951	TTN	C	T	216	0.804513	3.252	MedGen:CN169374	not_specified	Benign	0.9274	nonsynonymous_SNV	exonic	T	0.9321	0.9303	0.9314	-1
chr2	179621184	TTN	G	A	4	0.00519169	.	MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374	Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified	Benign	0.0164	synonymous_SNV	exonic	.	0.0146	0.0165	0.0154	-2
chr2	179621323	TTN	A	G	1	.	0.237	.	.	.	.	nonsynonymous_SNV	exonic	T	.	.	.	2
chr2	179621477	TTN	C	T	230	0.999002	.	MedGen:CN169374	not_specified	Benign/Likely_benign	1	nonsynonymous_SNV	exonic	.	1	1.0000	1	-1
chr2	179621503	TTN	C	T	8	0.00638978	2.386	MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374	Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified	Benign	0.0201	nonsynonymous_SNV	exonic	T	0.0176	0.0202	0.0186	-2
chr2	179623758	TTN	C	T	220	0.808906	1.814	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	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	Benign/Likely_benign	0.9274	nonsynonymous_SNV	exonic	T	0.9324	0.9303	0.9313	-1.5
chr2	179629363	TTN	T	C	230	0.973642	.	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	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	Benign/Likely_benign	0.9997	synonymous_SNV	exonic	.	0.9992	0.9998	0.9999	-1.5
chr2	179629461	TTN	C	T	220	0.804912	2.855	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	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	Benign/Likely_benign	0.9273	nonsynonymous_SNV	exonic	T	0.9322	0.9303	0.9314	-1.5
chr2	179631214	TTN	T	C	10	0.167732	.	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	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	Benign/Likely_benign	0.0720	synonymous_SNV	exonic	.	0.0667	0.0690	0.0684	-1.5
chr2	179632496	TTN	T	C	7	0.0860623	1.376	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	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	Benign/Likely_benign	0.0243	nonsynonymous_SNV	exonic	T	0.0212	0.0233	0.0225	-1.5
chr2	179632598	TTN	C	T	4	0.00159744	4.072	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	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	Conflicting_interpretations_of_pathogenicity	0.0054	nonsynonymous_SNV	exonic	T	0.0044	0.0055	0.0112	1.5
chr2	179632757	TTN	G	A	1	.	.	.	.	.	0	synonymous_SNV	exonic	.	.	0	.	2
chr2	179633644	TTN	G	C	7	0.0866613	.	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	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	Benign/Likely_benign	0.0243	synonymous_SNV	exonic	.	0.0215	0.0233	0.0225	-1.5
chr2	179634374	TTN	GTGTATATATATATATATATTTTTTAAC	GTGTATATATATATATATATTTTAAC,GTGTATATATATATATATTTTTTAAC,GTGTATATATATATATTTTTTTTAAC,ATGTGTATATATATATATATTTTTTAAC,ATGTGTATATATATATATTTTTTTTAAC	7	.	.	.	.	.	.	.	intronic	.	.	.	.	4
chr2	179634376	TTN	GTATATATATATATATAT	GTATATATATATATTT,GTATATATATATATAT,GTGTATATATATATATAT,GTGTATATATATATATTT	7	.	.	.	.	.	.	.	intronic	.	.	.	.	4
chr2	179634839	TTN	T	C	1	.	.	MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374	Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified	Likely_benign	0.0005	synonymous_SNV	exonic	.	0.0003	0.0002	0.0001	-0.5
chr2	179634936	TTN	C	T	3	0.08127	2.325	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	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	Benign/Likely_benign	0.0476	nonsynonymous_SNV	exonic	T	0.0451	0.0455	0.0457	-1.5
chr2	179634961	TTN	C	A	5	0.00758786	2.904	MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736	Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype	Benign	0.0212	nonsynonymous_SNV	exonic	T	0.0220	0.0222	0.0231	-2
chr2	179635919	TTN	C	T	11	0.0155751	.	MedGen:CN169374	not_specified	Benign	0.0360	.	intronic	.	0.0377	0.0369	0.0349	-1
chr2	179637861	TTN	C	G	2	0.0754792	1.057	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	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	Benign/Likely_benign	0.0458	nonsynonymous_SNV	exonic	T	0.0433	0.0442	0.0442	-1.5
chr2	179638238	TTN	G	A	35	0.0754792	.	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	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	Benign/Likely_benign	0.1080	synonymous_SNV	exonic	.	0.1147	0.1125	0.1134	-1.5
chr2	179638314	TTN	CGGT	CGC	1	.	.	.	.	.	.	frameshift_substitution	exonic	.	.	.	.	2
chr2	179638721	TTN	C	T	7	0.0874601	2.444	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	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	Benign/Likely_benign	0.0248	nonsynonymous_SNV	exonic	T	0.0221	0.0234	0.0225	-1.5
chr2	179638854	TTN	G	A	1	0.000199681	.	.	.	.	0.0001	.	intronic	.	.	0.0001	.	1
chr2	179639143	TTN	GA	TT	1	.	.	.	.	.	.	nonframeshift_substitution	exonic	.	.	.	.	2
chr2	179640598	TTN	C	T	1	0.00159744	3.059	MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202	Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided	Conflicting_interpretations_of_pathogenicity	0.0012	nonsynonymous_SNV	exonic	T	0.0012	0.0006	0.0009	0.5
chr2	179640894	TTN	G	A	1	.	.	MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736	Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype	Conflicting_interpretations_of_pathogenicity	0.0004	synonymous_SNV	exonic	.	0.0005	0.0004	6.66e-05	0.5
chr2	179641009	TTN	C	T	1	.	3.119	MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374	Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified	Uncertain_significance	0.0001	nonsynonymous_SNV	exonic	T	0.0001	0.0002	6.666e-05	1
chr2	179641975	TTN	C	T	2	0.0752796	2.306	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	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	Benign/Likely_benign	0.0456	nonsynonymous_SNV	exonic	T	0.0430	0.0442	0.0440	-1.5
chr2	179642162	TTN	T	C	2	0.0119808	1.446	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	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	Benign/Likely_benign	0.0029	nonsynonymous_SNV	exonic	T	0.0022	0.0013	0.0005	-1.5
chr2	179642425	LOC101927055	G	A	229	0.911542	.	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:CN239310|MedGen:CN239352	Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive	Benign/Likely_benign	0.9890	.	ncRNA_exonic	.	0.9914	0.9898	0.9889	-1.5
chr2	179642431	TTN	C	T	1	.	3.382	.	.	.	1.499e-05	nonsynonymous_SNV	exonic	D	.	8.995e-06	.	3
chr2	179642589	TTN	C	G	5	0.0103834	4.261	MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736	Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype	Benign	0.0116	nonsynonymous_SNV	exonic	T	0.0076	0.0106	0.0089	-2
chr2	179643733	TTN	T	C	1	.	2.651	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	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	Conflicting_interpretations_of_pathogenicity	0.0002	nonsynonymous_SNV	exonic	T	.	0.0001	.	1.5
chr2	179643775	TTN	C	T	2	0.00379393	3.042	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	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	Benign/Likely_benign	0.0096	nonsynonymous_SNV	exonic	T	0.0073	0.0084	0.0162	-0.5
chr2	179644035	TTN	G	A	229	0.920128	2.581	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	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	Benign/Likely_benign	0.9890	nonsynonymous_SNV	exonic	T	0.9914	0.9898	0.9889	-1.5
chr2	179644041	TTN	A	C	1	.	2.245	.	.	.	.	nonsynonymous_SNV	exonic	D	.	.	.	3
chr2	179644160	TTN	T	C	2	0.0756789	.	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	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	Benign/Likely_benign	0.0563	synonymous_SNV	exonic	.	0.0422	0.0441	0.0441	-1.5
chr2	179644855	TTN	T	C	198	0.5002	2.524	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	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	Benign/Likely_benign	0.8655	nonsynonymous_SNV	exonic	T	0.8702	0.8685	0.8651	-1.5
chr2	179647078	TTN	C	A	1	.	2.555	MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN517202	Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided	Conflicting_interpretations_of_pathogenicity	0.0002	nonsynonymous_SNV	exonic	T	.	0.0001	.	1.5
chr2	179647533	TTN	C	T	1	0.000399361	3.404	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: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	Primary_dilated_cardiomyopathy|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	Conflicting_interpretations_of_pathogenicity	0.0013	nonsynonymous_SNV	exonic	T	0.0012	0.0011	0.0015	0.5
chr2	179647546	TTN	A	G	2	0.0776757	.	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	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	Benign/Likely_benign	0.0500	synonymous_SNV	exonic	.	0.0476	0.0483	0.0520	-1.5
chr2	179648457	TTN	G	T	1	.	2.837	.	.	.	.	nonsynonymous_SNV	exonic	T	.	.	.	2
chr2	179648562	TTN	T	C	1	.	.	.	.	.	4.682e-05	.	intronic	.	.	3.67e-05	.	2
chr2	179650408	TTN	G	A	53	0.100439	2.681	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	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	Benign/Likely_benign	0.2383	nonsynonymous_SNV	exonic	T	0.2345	0.2369	0.2096	-1.5
chr2	179650427	TTN	C	T	1	.	2.982	.	.	.	.	nonsynonymous_SNV	exonic	T	.	.	.	2
chr2	179650701	TTN	C	T	77	0.204673	.	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	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	Benign/Likely_benign	0.4010	synonymous_SNV	exonic	.	0.4057	0.4034	0.4251	-1.5
chr2	179650794	TTN	G	A	1	.	.	MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374	Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified	Benign/Likely_benign	9.038e-05	synonymous_SNV	exonic	.	0.0001	0.0001	6.662e-05	1.5
chr2	179654695	TTN	C	G	1	0.00599042	.	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	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	Conflicting_interpretations_of_pathogenicity	0.0024	.	intronic	.	0.0022	0.0018	0.0018	0.5
chr2	179658175	TTN	C	T	6	0.00758786	2.756	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	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	Benign/Likely_benign	0.0200	nonsynonymous_SNV	exonic	T	0.0233	0.0225	0.0207	-1.5
chr2	179659108	TTN	T	C	1	0.00119808	.	MedGen:CN169374	not_specified	Benign	0.0031	.	intronic	.	0.0021	0.0029	0.0032	0
chr2	179659110	TTN	G	A	1	0.00599042	.	MedGen:CN169374	not_specified	Benign	0.0024	.	intronic	.	0.0022	0.0018	0.0018	0
chr2	179659294	TTN	C	T	2	0.000998403	.	MedGen:CN169374	not_specified	Benign	0.0012	.	intronic	.	0.0014	0.0011	0.0005	0
chr2	179659757	TTN	T	C	1	0.00599042	.	MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736	Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype	Conflicting_interpretations_of_pathogenicity	0.0024	synonymous_SNV	exonic	.	0.0022	0.0018	0.0018	0.5
chr2	179659815	TTN	C	G	1	0.0119808	2.453	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	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	Benign/Likely_benign	0.0024	nonsynonymous_SNV	exonic	T	0.0022	0.0018	0.0020	-1.5
chr2	179659912	TTN	G	A	21	0.236022	2.207	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	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	Benign/Likely_benign	0.0508	nonsynonymous_SNV	exonic	T	0.0531	0.0513	0.0551	-1.5
chr2	179665279	TTN	G	A	1	0.00599042	.	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	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	Conflicting_interpretations_of_pathogenicity	0.0024	synonymous_SNV	exonic	.	0.0022	0.0018	0.0018	0.5
chr2	179666933	TTN	C	G	1	.	2.526	MedGen:CN169374|MedGen:CN230736	not_specified|Cardiovascular_phenotype	Uncertain_significance	0.0002	nonsynonymous_SNV	exonic	D	0.0007	0.0002	0.0003	1
chr2	179666982	TTN	C	A	3	0.0289537	3.822	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	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	Benign/Likely_benign	0.0065	nonsynonymous_SNV	exonic	T	0.0059	0.0065	0.0050	-1.5
chr2	179669244	TTN	GAAAAAAAAACAAAAGTG	GAAAAAAAAAACAAAAGTG	1	0.00419329	.	.	.	.	0.0057	.	intronic	.	0.0045	0.0018	0.0002	0
chr2	220283259	DES	A	G	228	0.886182	.	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	Cardiomyopathy|Scapuloperoneal_weakness|Myofibrillar_myopathy_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant	Benign	0.9889	synonymous_SNV	exonic	.	0.9877	0.9886	0.9896	-2
chr2	220283275	DES	AGT	AGC,CGT	228	.	1.765	.	.	.	.	nonsynonymous_SNV	exonic	T	.	.	.	4
chr2	220283276	DES	GT	GC	20	.	.	.	.	.	.	frameshift_deletion\x3bframeshift_deletion	exonic\x3bexonic	.	.	.	.	4
chr2	220283277	DES	T	C	200	0.866014	.	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	Cardiomyopathy|Scapuloperoneal_weakness|Myofibrillar_myopathy_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant	Benign	0.9886	synonymous_SNV	exonic	.	0.9880	0.9882	0.9892	-2
chr2	220283592	DES	C	T	8	0.0123802	.	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	Scapuloperoneal_weakness|Myofibrillar_myopathy_1|Muscular_dystrophy,_limb-girdle,_type_2r|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant	Benign	0.0753	synonymous_SNV	exonic	.	0.0352	0.0384	0.0435	-2
chr2	220284778	DES	TC	TT	2	.	.	.	.	.	.	.	intronic	.	.	.	.	2
chr2	220284779	DES	C	T	147	0.529353	.	MedGen:CN169374	not_specified	Benign	0.6272	.	intronic	.	0.6303	0.6307	0.6482	-1
chr2	220284876	DES	C	T	4	0.00559105	5.554	Gene:1732,MeSH:D065630,MedGen:C1840644,OMIM:142340|Human_Phenotype_Ontology:HP:0003704,MedGen:C1842161|Human_Phenotype_Ontology:HP:0003715,MedGen:C2678065,Orphanet:ORPHA593,SNOMED_CT:699269005|MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909|MedGen:C3809137,OMIM:615325,Orphanet:ORPHA363543|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446|MedGen:CN517202	Congenital_diaphragmatic_hernia|Scapuloperoneal_weakness|Myofibrillar_myopathy|Myofibrillar_myopathy_1|Muscular_dystrophy,_limb-girdle,_type_2r|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant|not_provided	Conflicting_interpretations_of_pathogenicity	0.0153	nonsynonymous_SNV	exonic	D	0.0137	0.0153	0.0150	1.5
chr2	220285002	DES	T	C	2	0.029353	.	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	Cardiomyopathy|Scapuloperoneal_weakness|Myofibrillar_myopathy_1|Muscular_dystrophy,_limb-girdle,_type_2r|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant	Benign	0.0008	synonymous_SNV	exonic	.	0.0008	0.0010	0.0012	-2
chr2	220285088	DES	C	T	6	0.00419329	.	Human_Phenotype_Ontology:HP:0003715,MedGen:C2678065,Orphanet:ORPHA593,SNOMED_CT:699269005|MedGen:CN169374	Myofibrillar_myopathy|not_specified	Benign	0.0136	.	intronic	.	0.0109	0.0126	0.0097	-1
chr2	220285309	DES	C	T	79	0.33746	.	Human_Phenotype_Ontology:HP:0003704,MedGen:C1842161|MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446	Scapuloperoneal_weakness|Myofibrillar_myopathy_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant	Benign	0.3603	synonymous_SNV	exonic	.	0.3555	0.3562	0.3400	-2
chr2	220285666	DES	G	C	79	0.33766	.	Human_Phenotype_Ontology:HP:0003704,MedGen:C1842161|MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446	Scapuloperoneal_weakness|Myofibrillar_myopathy_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant	Benign	0.3631	synonymous_SNV	exonic	.	0.3551	0.3551	0.3399	-2
chr2	220286142	DES	G	A	79	0.333666	.	Human_Phenotype_Ontology:HP:0003704,MedGen:C1842161|MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446	Scapuloperoneal_weakness|Myofibrillar_myopathy_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant	Benign	0.3603	synonymous_SNV	exonic	.	0.3552	0.3567	0.3410	-2
chr20	30407387	MYLK2	G	A	1	0.00119808	4.332	Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3495498,OMIM:192600|MedGen:CN169374|MedGen:CN517202	Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|not_specified|not_provided	Conflicting_interpretations_of_pathogenicity	0.0015	nonsynonymous_SNV	exonic	T	0.0016	0.0017	0.0030	0
chr20	30407934	MYLK2	G	A	1	.	0.768	.	.	.	.	nonsynonymous_SNV	exonic	T	.	9.125e-06	.	2
chr20	30408306	MYLK2	C	G	1	0.00838658	4.119	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	Cardiomyopathy|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|not_specified	Conflicting_interpretations_of_pathogenicity	0.0194	nonsynonymous_SNV	exonic	T	0.0202	0.0212	0.0203	-1
chr20	30409452	MYLK2	T	C	28	0.0720847	.	Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374	Hypertrophic_cardiomyopathy|not_specified	Benign/Likely_benign	0.0791	synonymous_SNV	exonic	.	0.0802	0.0781	0.0654	-1
chr20	30412101	MYLK2	C	T	5	0.00599042	.	Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C3495498,OMIM:192600|MedGen:CN169374	Cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|not_specified	Benign	0.0163	synonymous_SNV	exonic	.	0.0193	0.0171	0.0163	-1
chr20	30412168	MYLK2	CG	CA	1	.	.	.	.	.	.	.	intronic	.	.	1.974e-05	.	2
chr20	30412169	MYLK2	G	A	1	0.000399361	.	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	Cardiomyopathy|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|not_specified	Conflicting_interpretations_of_pathogenicity	0.0006	.	intronic	.	0.0006	0.0005	0.0003	0
chr20	30414503	MYLK2	C	T	5	0.00499201	.	Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3495498,OMIM:192600|MedGen:CN169374	Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|not_specified	Conflicting_interpretations_of_pathogenicity	0.0157	synonymous_SNV	exonic	.	0.0185	0.0163	0.0132	-1
chr20	30414528	MYLK2	G	A	7	0.00958466	.	Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374	Cardiomyopathy|Hypertrophic_cardiomyopathy|not_specified	Benign/Likely_benign	0.0300	.	intronic	.	0.0265	0.0281	0.0257	-1
chr20	30414621	MYLK2	C	T	3	0.0081869	.	Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3495498,OMIM:192600|MedGen:CN169374	Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|not_specified	Benign/Likely_benign	0.0230	synonymous_SNV	exonic	.	0.0216	0.0244	0.0287	-1
chr20	30419813	MYLK2	G	A	1	0.000399361	.	MedGen:C3495498,OMIM:192600|MedGen:CN169374	Familial_hypertrophic_cardiomyopathy_1|not_specified	Benign/Likely_benign	0.0010	synonymous_SNV	exonic	.	0.0015	0.0012	0.0012	0
chr20	30419834	MYLK2	C	T	1	.	.	.	.	.	1.981e-05	synonymous_SNV	exonic	.	.	9.568e-06	0	2
chr20	30419886	MYLK2	C	T	1	.	6.466	MedGen:C3495498,OMIM:192600|MedGen:CN169374	Familial_hypertrophic_cardiomyopathy_1|not_specified	Uncertain_significance	4.059e-05	nonsynonymous_SNV	exonic	T	.	5.644e-05	0	3
chr20	30419954	MYLK2	AGGGT	GGGGT,TGGGG,CGGGG,CGGGT,TGGGT	1	.	.	.	.	.	.	.	intronic	.	.	.	.	2
chr20	31996308	SNTA1	G	A	1	.	.	.	.	.	0	.	UTR3	.	.	8.958e-06	.	2
chr20	31996708	SNTA1	A	G	1	.	.	.	.	.	7.575e-05	.	intronic	.	0.0002	9.92e-05	.	1
chr20	32000158	SNTA1	G	A	1	.	.	MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736	Long_QT_syndrome|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype	Conflicting_interpretations_of_pathogenicity	0.0017	synonymous_SNV	exonic	.	0.0013	0.0014	0.0043	0
chr20	32000462	SNTA1	C	T	6	0.0071885	.	MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN230736	Long_QT_syndrome|Romano-Ward_syndrome|Cardiovascular_phenotype	Conflicting_interpretations_of_pathogenicity	0.0139	synonymous_SNV	exonic	.	0.0195	0.0153	0.0178	-1
chr20	32031310	SNTA1	C	T	1	.	.	MedGen:CN169374	not_specified	Likely_benign	.	synonymous_SNV	exonic	.	.	3.721e-05	.	2
chr20	32031359	SNTA1	GCCCCCG	GCCCCG	2	.	.	.	.	.	.	frameshift_deletion	exonic	.	.	0	.	2
chr20	32031368	SNTA1	C	A	2	.	3.577	.	.	.	.	nonsynonymous_SNV	exonic	T	.	.	.	2
chr20	32031392	SNTA1	A	C	2	.	5.761	.	.	.	.	nonsynonymous_SNV	exonic	T	.	.	.	3
chr20	32031401	SNTA1	C	A	2	.	4.543	.	.	.	.	nonsynonymous_SNV	exonic	T	.	.	.	2
chr20	42743452	JPH2	ACA	ACG,CCA	2	.	6.037	.	.	.	.	nonsynonymous_SNV	exonic	T	.	.	.	3
chr20	42743453	JPH2	CA	CG	4	.	.	.	.	.	.	frameshift_deletion\x3bframeshift_deletion	exonic\x3bexonic	.	.	.	.	3
chr20	42743454	JPH2	A	G	65	0.257388	.	MedGen:C3151264,OMIM:613873|MedGen:CN169374|MedGen:CN230736	Familial_hypertrophic_cardiomyopathy_17|not_specified|Cardiovascular_phenotype	Benign	0.3485	synonymous_SNV	exonic	.	0.3065	0.2967	0.3031	-1
chr20	42744448	JPH2	C	G	1	.	0.897	.	.	.	0.0001	nonsynonymous_SNV	exonic	T	.	7.646e-05	6.677e-05	2
chr20	42744463	JPH2	T	C	1	.	-2.234	MedGen:CN169374|MedGen:CN230736	not_specified|Cardiovascular_phenotype	Uncertain_significance	0.0004	nonsynonymous_SNV	exonic	T	0.0003	0.0004	0.0003	1
chr20	42744514	JPH2	T	G	1	.	-0.606	.	.	.	.	nonsynonymous_SNV	exonic	T	.	.	.	2
chr20	42744586	JPH2	CG	CC	2	.	.	.	.	.	.	frameshift_deletion	exonic	.	.	.	.	2
chr20	42744587	JPH2	G	C	51	0.152955	.	MedGen:C3151264,OMIM:613873|MedGen:CN169374|MedGen:CN230736	Familial_hypertrophic_cardiomyopathy_17|not_specified|Cardiovascular_phenotype	Benign	0.2759	synonymous_SNV	exonic	.	0.1887	0.2230	0.2293	-1
chr20	42744802	JPH2	C	T	4	0.0153754	0.202	Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3151264,OMIM:613873|MedGen:CN169374|MedGen:CN230736	Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_17|not_specified|Cardiovascular_phenotype	Benign	0.0368	nonsynonymous_SNV	exonic	T	0.004	0.0050	0.0081	-1
chr20	42745033	JPH2	G	A	2	0.00738818	.	Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3151264,OMIM:613873|MedGen:CN169374	Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_17|not_specified	Benign	0.0269	.	intronic	.	.	0.0308	0.0320	-1
chr20	42747247	JPH2	C	T	34	0.270367	5.490	MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C3151264,OMIM:613873|MedGen:CN169374|MedGen:CN230736	Long_QT_syndrome|Familial_hypertrophic_cardiomyopathy_17|not_specified|Cardiovascular_phenotype	Benign	0.1362	nonsynonymous_SNV	exonic	T	0.1290	0.1342	0.1291	0
chr20	42747254	JPH2	G	A	23	0.048722	.	MedGen:C3151264,OMIM:613873|MedGen:CN169374|MedGen:CN230736	Familial_hypertrophic_cardiomyopathy_17|not_specified|Cardiovascular_phenotype	Benign	0.0937	synonymous_SNV	exonic	.	0.1027	0.0951	0.1001	-1
chr20	42788237	JPH2	CCA	CCC	11	.	.	.	.	.	.	.	intronic	.	.	.	.	4
chr20	42788239	JPH2	A	C	39	.	.	.	.	.	.	.	intronic	.	.	.	.	4
chr20	42788245	JPH2	A	C	70	.	.	.	.	.	.	.	intronic	.	.	.	.	4
chr20	42788790	JPH2	G	A	2	.	5.096	Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736	Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype	Conflicting_interpretations_of_pathogenicity	0	nonsynonymous_SNV	exonic	T	.	9.135e-05	0	3
chr20	42789053	JPH2	G	A	2	0.00199681	.	Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3151264,OMIM:613873|MedGen:CN169374	Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_17|not_specified	Benign	0.0032	.	intronic	.	0.0021	0.0027	0.0021	0
chr20	42806645	JPH2	G	A	1	.	.	.	.	.	1.499e-05	.	intronic	.	.	1.831e-05	.	2
chr20	42815120	JPH2	T	C	1	.	4.909	MedGen:CN169374	not_specified	Uncertain_significance	1.499e-05	nonsynonymous_SNV	exonic	T	.	2.691e-05	6.697e-05	2
chr20	42815190	JPH2	G	A	196	0.854233	.	MedGen:C3151264,OMIM:613873|MedGen:CN169374|MedGen:CN230736	Familial_hypertrophic_cardiomyopathy_17|not_specified|Cardiovascular_phenotype	Benign	0.8316	synonymous_SNV	exonic	.	0.8293	0.8292	0.8375	-1
chr20	61039957	GATA5	TT	TC,GT	196	.	1.828	.	.	.	.	nonsynonymous_SNV	exonic	D	.	.	.	5
chr20	61039958	GATA5	T	C,G	196	.	.	.	.	.	.	synonymous_SNV	exonic	.	.	.	.	4
chr20	61040376	GATA5	A	C	2	.	.	.	.	.	2.391e-05	.	intronic	.	.	1.056e-05	.	2
chr20	61040381	GATA5	A	C	1	.	.	.	.	.	.	.	intronic	.	.	.	.	2
chr20	61040386	GATA5	A	C	2	.	.	.	.	.	.	.	intronic	.	.	.	.	2
chr20	61040451	GATA5	TTC	TTG,GTC	2	.	2.095	.	.	.	.	nonsynonymous_SNV	exonic	D	.	.	.	3
chr20	61040452	GATA5	TC	TG,GC	2	.	3.191	.	.	.	.	nonsynonymous_SNV	exonic	D	.	.	.	3
chr20	61040453	GATA5	C	G,A	2	.	.	.	.	.	.	synonymous_SNV	exonic	.	.	.	.	2
chr20	61040951	GATA5	C	T	117	0.529553	.	.	.	.	0.5459	synonymous_SNV	exonic	.	0.4776	0.4787	0.4993	-1
chr20	61048450	GATA5	C	G	1	.	.	.	.	.	7.842e-05	.	intronic	.	.	3.088e-05	.	2
chr20	61048460	GATA5	A	G	2	0.00219649	3.750	.	.	.	0.0033	nonsynonymous_SNV	exonic	D	0.0014	0.0021	0.0016	1
chr20	61048549	GATA5	G	A	102	0.388179	.	.	.	.	0.4679	synonymous_SNV	exonic	.	0.4344	0.4383	0.4330	-1
chr20	61050378	GATA5	GT	GG	1	.	.	.	.	.	.	frameshift_deletion	exonic	.	.	.	.	2
chr20	61050379	GATA5	T	G	21	0.142572	0.113	.	.	.	0.2407	nonsynonymous_SNV	exonic	T	.	0.1733	0.1805	-1
chr20	61050568	GATA5	T	G	1	.	5.299	.	.	.	.	nonsynonymous_SNV	exonic	D	.	.	.	4
chr21	35742799	KCNE2	A	G	3	0.00139776	4.000	MedGen:C3150953,OMIM:613693|MedGen:CN169374|MedGen:CN221566|MedGen:CN230736|MedGen:CN517202	Long_QT_syndrome_6|not_specified|Long_QT_syndrome,_drug-associated|Cardiovascular_phenotype|not_provided	Benign	0.0054	nonsynonymous_SNV	exonic	D	0.0069	0.0060	0.0064	2
chr21	35742806	KCNE2	C	T	1	.	2.699	MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1141890,Orphanet:ORPHA768,SNOMED_CT:442917000|MedGen:C3150953,OMIM:613693|MedGen:CN169374	Long_QT_syndrome|Congenital_long_QT_syndrome|Long_QT_syndrome_6|not_specified	Conflicting_interpretations_of_pathogenicity	0.0003	nonsynonymous_SNV	exonic	D	.	0.0002	6.66e-05	2
chr21	35742947	KCNE2	T	C	4	0.000798722	5.453	MedGen:C0003811,OMIM:115000|MedGen:C3150953,OMIM:613693|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202	Cardiac_arrhythmia|Long_QT_syndrome_6|not_specified|Cardiovascular_phenotype|not_provided	Conflicting_interpretations_of_pathogenicity	0.0011	nonsynonymous_SNV	exonic	D	0.0002	0.0011	0.0001	3
chr21	35743006	KCNE2	C	T	1	.	7.201	MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1141890,Orphanet:ORPHA768,SNOMED_CT:442917000|MedGen:CN169374	Long_QT_syndrome|Congenital_long_QT_syndrome|not_specified	Uncertain_significance	0.0001	nonsynonymous_SNV	exonic	D	0.0002	0.0001	.	3
chr21	35743116	KCNE2	C	T	1	.	.	MedGen:C3150953,OMIM:613693	Long_QT_syndrome_6	Likely_benign	.	synonymous_SNV	exonic	.	.	1.791e-05	.	2
chr21	35821817	KCNE1	TCACT	TCACC,GCACT	1	.	0.463	.	.	.	.	nonsynonymous_SNV	exonic	D	.	.	.	3
chr21	35821818	KCNE1	CACT	CACC	4	.	.	.	.	.	.	frameshift_deletion\x3bframeshift_deletion\x3bframeshift_deletion\x3bframeshift_deletion	exonic\x3bexonic\x3bexonic\x3bexonic	.	.	.	.	3
chr21	35821819	KCNE1	ACT	ACC	2	.	.	.	.	.	.	frameshift_deletion\x3bframeshift_deletion\x3bframeshift_deletion\x3bframeshift_deletion	exonic\x3bexonic\x3bexonic\x3bexonic	.	.	.	.	2
chr21	35821820	KCNE1	CT	CC	4	.	.	.	.	.	.	frameshift_deletion\x3bframeshift_deletion\x3bframeshift_deletion\x3bframeshift_deletion	exonic\x3bexonic\x3bexonic\x3bexonic	.	.	.	.	3
chr21	35821821	KCNE1	T	C	122	0.673922	-1.420	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	Long_QT_syndrome|Jervell_and_Lange-Nielsen_syndrome|Hearing_loss,_noise-induced,_susceptibility_to|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype|not_provided	Benign	0.6443	nonsynonymous_SNV	exonic	T	0.6369	0.6420	0.6458	-1
chr22	19865869	TXNRD2	T	C	2	0.0848642	.	MedGen:CN169374	not_specified	Benign	0.0010	.	intronic	.	0.0005	0.0011	0.0013	-1
chr22	19867771	TXNRD2	C	T	48	0.269169	.	MedGen:CN169374|MedGen:CN230736	not_specified|Cardiovascular_phenotype	Benign	0.1620	unknown	exonic	.	0.1615	0.1619	0.1510	-1
chr22	19868177	TXNRD2	C	T	2	0.00179712	2.609	EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:CN169374|MedGen:CN230736	Primary_dilated_cardiomyopathy|not_specified|Cardiovascular_phenotype	Benign	0.0116	unknown	exonic	T	0.0057	0.0085	0.0159	-2
chr22	19868218	TXNRD2	A	G	167	0.718251	2.110	MedGen:CN169374|MedGen:CN230736	not_specified|Cardiovascular_phenotype	Benign	0.7400	unknown	exonic	T	0.7377	0.7391	0.7310	-1
chr22	19868228	TXNRD2	G	A	2	0.0169728	.	EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:CN169374|MedGen:CN230736	Primary_dilated_cardiomyopathy|not_specified|Cardiovascular_phenotype	Benign	0.0044	unknown	exonic	.	0.0044	0.0039	0.0021	-2
chr22	19868255	TXNRD2	AGGGGGGCCA	AGGGGGCCA	46	0.156749	.	MedGen:CN169374	not_specified	Benign	0.1660	.	intronic	.	0.1610	0.1565	0.1480	-1
chr22	19870831	TXNRD2	C	T	64	0.221645	.	MedGen:CN169374	not_specified	Benign	0.3069	.	intronic	.	0.2962	0.3038	0.3008	-1
chr22	19870995	TXNRD2	CAGAGAGG	CAGAGG	1	.	.	.	.	.	.	.	intronic	.	.	1.791e-05	.	2
chr22	19882976	TXNRD2	G	T	1	0.0123802	.	EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:CN169374|MedGen:CN230736	Primary_dilated_cardiomyopathy|not_specified|Cardiovascular_phenotype	Benign	0.0005	synonymous_SNV	exonic	.	0.0007	0.0005	0.0002	-2
chr22	19882984	TXNRD2	T	G	45	0.251198	-1.829	MedGen:CN169374|MedGen:CN230736	not_specified|Cardiovascular_phenotype	Benign	0.1665	nonsynonymous_SNV	exonic	T	0.1662	0.1666	0.1572	-1
chr22	19883123	TXNRD2	C	T	1	0.000399361	.	MedGen:CN169374	not_specified	Likely_benign	0.0009	.	intronic	.	0.0004	0.0009	0.0006	0
chr22	19885548	TXNRD2	G	T	45	0.242212	.	MedGen:CN169374	not_specified	Benign	0.2105	.	intronic	.	0.1568	0.1687	0.1568	-1
chr22	19898879	TXNRD2	C	T	1	.	.	.	.	.	3.017e-05	.	intronic	.	.	2.686e-05	0	2
chr22	19898886	TXNRD2	C	T	27	0.171526	.	MedGen:CN169374	not_specified	Benign	0.0908	.	intronic	.	0.0903	0.0908	0.1058	-1
chr22	19898887	TXNRD2	G	A	7	0.048123	.	MedGen:CN169374	not_specified	Benign	0.0194	.	intronic	.	0.0214	0.0205	0.0185	-1
chr22	19898951	TXNRD2	T	C	1	.	4.921	.	.	.	5.999e-05	nonsynonymous_SNV	exonic	T	.	9.847e-05	6.667e-05	2
chr22	19903379	TXNRD2	GATA	GA	1	.	.	.	.	.	.	.	intronic	.	.	.	.	2
chr22	19905748	TXNRD2	G	A	3	0.000399361	.	EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:CN169374	Primary_dilated_cardiomyopathy|not_specified	Likely_benign	0.0007	.	intronic	.	0.0010	0.0006	0.0009	0.5
chr22	19905802	TXNRD2	G	A	143	0.7498	.	.	.	.	.	.	intronic	.	0.5597	.	0.5638	-1
chr22	19906370	TXNRD2	G	A	7	0.0297524	.	MedGen:CN169374	not_specified	Benign	0.0248	.	intronic	.	0.0297	0.0276	0.0226	-1
chr22	19906511	TXNRD2	G	A	40	0.168131	.	MedGen:CN169374|MedGen:CN230736	not_specified|Cardiovascular_phenotype	Benign	0.1510	synonymous_SNV	exonic	.	0.1476	0.1457	0.1431	-1
chr22	19907099	TXNRD2	C	A	88	0.483027	6.178	MedGen:CN169374|MedGen:CN230736	not_specified|Cardiovascular_phenotype	Benign	0.4078	nonsynonymous_SNV	exonic	T	0.3312	0.3327	0.3772	0
chr22	19907118	TXNRD2	G	A	128	0.596845	.	MedGen:CN169374|MedGen:CN230736	not_specified|Cardiovascular_phenotype	Benign	0.5426	synonymous_SNV	exonic	.	0.4793	0.4826	0.5193	-1
chr22	19907192	TXNRD2	A	G	142	0.754393	.	.	.	.	.	.	intronic	.	0.5575	.	0.5641	-1
chr22	19929193	TXNRD2	C	T	1	.	.	.	.	.	.	.	intronic	.	.	.	.	2
chr22	19929212	TXNRD2	A	C	1	.	.	.	.	.	.	.	intronic	.	.	.	.	2
chr3	8775589	CAV3	C	T	18	0.0425319	.	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	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	Benign/Likely_benign	0.1275	synonymous_SNV	exonic	.	0.1248	0.1301	0.1246	-1
chr3	8775661	CAV3	C	T	61	0.371006	.	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	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	Benign/Likely_benign	0.2648	synonymous_SNV	exonic	.	0.2388	0.2547	0.2666	-1
chr3	8775702	CAV3	G	A	14	0.076877	.	MedGen:CN517202	not_provided	not_provided	0.0556	.	intronic	.	0.0499	0.0503	0.0580	-1
chr3	8787220	CAV3	T	C	25	0.152955	.	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	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	Benign/Likely_benign	0.2372	synonymous_SNV	exonic	.	0.2410	0.2384	0.2446	-1
chr3	8787330	CAV3	C	T	5	0.00199681	4.085	MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678485,OMIM:611818|MedGen:C3279093|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202	Long_QT_syndrome|Long_QT_syndrome_9|Long_QT_syndrome_2/9,_digenic|not_specified|Cardiovascular_phenotype|not_provided	Conflicting_interpretations_of_pathogenicity	0.0042	nonsynonymous_SNV	exonic	D	0.0044	0.0037	0.0027	3
chr3	12626019	RAF1	G	A	2	0.00439297	.	MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374|MedGen:CN230736	Rasopathy|not_specified|Cardiovascular_phenotype	Benign	0.0111	synonymous_SNV	exonic	.	0.0112	0.0107	0.0095	-1
chr3	12629158	RAF1	T	C	1	.	.	.	.	.	2.998e-05	.	intronic	.	.	1.793e-05	.	2
chr3	12633168	RAF1	A	G	3	0.0213658	.	MedGen:CN169374	not_specified	Benign	0.0133	.	intronic	.	0.0119	0.0137	0.0116	-1
chr3	12647755	RAF1	G	C	1	.	2.070	.	.	.	.	nonsynonymous_SNV	exonic	T	.	.	.	2
chr3	12647830	RAF1	G	A	3	0.00299521	.	.	.	.	0.0045	.	intronic	.	0.0042	0.0039	0.0026	1
chr3	14166739	TMEM43	G	C	1	0.00199681	.	.	.	.	0.0054	.	intronic	.	0.0037	0.0045	0.0047	0
chr3	14170981	TMEM43	C	T	1	0.00838658	7.959	MedGen:C1858379,OMIM:604400|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181	Arrhythmogenic_right_ventricular_cardiomyopathy,_type_5|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC	Benign/Likely_benign	0.0011	nonsynonymous_SNV	exonic	T	0.0010	0.0006	0.0005	1
chr3	14172300	TMEM43	C	T	1	0.00139776	.	.	.	.	4.523e-05	.	intronic	.	.	2.694e-05	0	0
chr3	14172381	TMEM43	C	T	4	0.00399361	.	MedGen:C1858379,OMIM:604400|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181	Arrhythmogenic_right_ventricular_cardiomyopathy,_type_5|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC	Conflicting_interpretations_of_pathogenicity	0.0124	synonymous_SNV	exonic	.	0.0121	0.0137	0.0123	-1
chr3	14173190	TMEM43	G	A	1	0.00119808	.	MedGen:CN169374	not_specified	Benign	6.708e-05	.	intronic	.	0.0001	7.259e-05	0	0
chr3	14174146	TMEM43	T	C	71	0.557308	.	.	.	.	0.3973	.	intronic	.	0.4069	0.3989	0.4133	-1
chr3	14174427	TMEM43	A	T	47	0.352636	2.489	MedGen:CN169374|MedGen:CN230736|MedGen:CN239181	not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC	Benign/Likely_benign	0.2792	nonsynonymous_SNV	exonic	T	0.2878	0.2838	0.2893	-1
chr3	14175262	TMEM43	T	C	48	0.463259	0.428	MedGen:CN169374|MedGen:CN230736|MedGen:CN239181	not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC	Benign/Likely_benign	0.2864	nonsynonymous_SNV	exonic	T	0.2955	0.2909	0.2967	-1
chr3	14180706	TMEM43	C	T	10	0.0213658	.	MedGen:C1858379,OMIM:604400|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181	Arrhythmogenic_right_ventricular_cardiomyopathy,_type_5|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC	Benign/Likely_benign	0.0210	synonymous_SNV	exonic	.	0.02	0.0213	0.0181	-1
chr3	14180731	TMEM43	C	T	1	0.00379393	7.570	Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1858379,OMIM:604400|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181	Cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_5|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC	Benign/Likely_benign	0.0113	nonsynonymous_SNV	exonic	T	0.0134	0.0121	0.0123	0
chr3	14183188	TMEM43	G	A	1	0.00559105	3.885	MedGen:C1858379,OMIM:604400|MedGen:CN169374|MedGen:CN230736	Arrhythmogenic_right_ventricular_cardiomyopathy,_type_5|not_specified|Cardiovascular_phenotype	Benign	8.994e-05	nonsynonymous_SNV	exonic	T	0.0002	8.06e-05	6.668e-05	0
chr3	14183242	TMEM43	C	G	1	0.000199681	-0.518	MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005	Arrhythmogenic_right_ventricular_cardiomyopathy	Likely_pathogenic	6.002e-05	nonsynonymous_SNV	exonic	T	.	5.373e-05	0	1
chr3	32148311	GPD1L	T	G	3	.	.	.	.	.	.	.	intronic	.	.	.	.	3
chr3	32181709	GPD1L	CA	AT	1	.	.	.	.	.	.	.	intronic	.	.	.	.	2
chr3	32181725	GPD1L	A	G	1	0.000399361	2.478	MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005	Brugada_syndrome	Uncertain_significance	2.997e-05	nonsynonymous_SNV	exonic	T	.	8.962e-06	0.0001	1
chr3	32181761	GPD1L	C	T	46	0.14976	.	MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736	Brugada_syndrome|not_specified|Cardiovascular_phenotype	Benign/Likely_benign	0.1307	synonymous_SNV	exonic	.	0.1387	0.1348	0.1251	-1
chr3	32188248	GPD1L	GAG	GG	8	0.101637	.	.	.	.	0.0185	.	intronic	.	0.0194	0.0189	0.0159	-1
chr3	32200588	GPD1L	C	T	1	0.000399361	0.097	Human_Phenotype_Ontology:HP:0001522,MedGen:C1844947|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C2673193,OMIM:611777|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202	Death_in_infancy|Brugada_syndrome|Brugada_syndrome_2|not_specified|Cardiovascular_phenotype|not_provided	Conflicting_interpretations_of_pathogenicity	0.0001	nonsynonymous_SNV	exonic	T	0.0001	0.0002	6.67e-05	1
chr3	38592019	SCN5A	G	A	3	0.067492	.	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	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	Benign/Likely_benign	0.0010	synonymous_SNV	exonic	.	0.0017	0.0010	0.0013	-1.5
chr3	38592406	SCN5A	A	G	78	0.492412	.	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	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	Benign/Likely_benign	0.3338	synonymous_SNV	exonic	.	0.3336	0.3339	0.3240	-1.5
chr3	38592527	SCN5A	G	A	2	.	6.023	MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1141890,Orphanet:ORPHA768,SNOMED_CT:442917000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736	Long_QT_syndrome|Congenital_long_QT_syndrome|Brugada_syndrome|not_specified|Cardiovascular_phenotype	Uncertain_significance	4.495e-05	nonsynonymous_SNV	exonic	D	0.0001	5.371e-05	6.674e-05	4
chr3	38595797	SCN5A	A	T	1	.	5.103	MedGen:C1141890,Orphanet:ORPHA768,SNOMED_CT:442917000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736	Congenital_long_QT_syndrome|Brugada_syndrome|not_specified|Cardiovascular_phenotype	Uncertain_significance	0.0001	nonsynonymous_SNV	exonic	D	.	0.0002	0.0003	3
chr3	38597180	SCN5A	G	A	2	0.00119808	.	MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736	Long_QT_syndrome|Brugada_syndrome|not_specified|Cardiovascular_phenotype	Benign/Likely_benign	0.0044	synonymous_SNV	exonic	.	0.0045	0.0047	0.0060	0
chr3	38601667	SCN5A	C	G	1	.	6.995	.	.	.	.	nonsynonymous_SNV	exonic	D	.	.	.	4
chr3	38620853	SCN5A	G	A	1	.	0.264	.	.	.	3.934e-05	nonsynonymous_SNV\x3bnonsynonymous_SNV	exonic\x3bexonic	T	.	2.985e-05	.	2
chr3	38620946	SCN5A	G	A	2	0.00439297	0.558	MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202	Brugada_syndrome|not_specified|Cardiovascular_phenotype|not_provided	Benign/Likely_benign	4.901e-05	nonsynonymous_SNV	exonic	T	.	3.645e-05	6.678e-05	0
chr3	38622467	SCN5A	T	C	211	0.923123	.	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	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	Benign/Likely_benign	0.8898	synonymous_SNV	exonic	.	0.8830	0.8897	0.8978	-1.5
chr3	38622868	SCN5A	G	A	7	0.0323482	.	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:CN239310	Long_QT_syndrome|Sick_sinus_syndrome|Paroxysmal_familial_ventricular_fibrillation|Brugada_syndrome|Romano-Ward_syndrome|not_specified|Progressive_familial_heart_block|Dilated_Cardiomyopathy,_Dominant	Benign/Likely_benign	0.0440	.	intronic	.	0.0430	0.0386	0.0366	-1.5
chr3	38627130	SCN5A	GGTAGCTGGGTAGATGAGTGGATGGTGTGTGTGTGGC	TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGC,GGTAGCTGGGTAGATGAGTGGATGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGC,GGTAGCTGGGTAGATGAGTGGATGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGC,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGC,GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGC,TGTAGCTGGGTAGATGAGTGGATGGTGTGTGTGTGGC	7	.	.	.	.	.	.	.	intronic	.	.	.	.	4
chr3	38639300	SCN5A	C	T	1	.	3.459	.	.	.	.	nonsynonymous_SNV	exonic	D	.	8.954e-06	.	3
chr3	38645189	SCN5A	C	T	1	0.00239617	.	MedGen:CN169374	not_specified	Benign	3.294e-05	.	intronic	.	.	4.828e-05	6.676e-05	0
chr3	38645283	SCN5A	G	C	1	.	2.190	.	.	.	.	nonsynonymous_SNV	exonic	T	.	9.549e-06	.	2
chr3	38645420	SCN5A	T	C	55	0.230431	-1.102	.	.	.	0.2246	nonsynonymous_SNV	exonic	T	0.2321	0.2301	0.2467	-1
chr3	38645522	SCN5A	G	T	2	0.0113818	2.438	MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1859062,OMIM:603830|MedGen:CN029323,OMIM:601144|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202	Long_QT_syndrome|Brugada_syndrome|Long_QT_syndrome_3|Brugada_syndrome_1|not_specified|Cardiovascular_phenotype|not_provided	Benign/Likely_benign	0.0015	nonsynonymous_SNV	exonic	T	0.0008	0.0004	0.0003	-1
chr3	38647642	SCN5A	G	T	48	0.151158	.	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	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	Benign/Likely_benign	0.1847	.	intronic	.	0.1850	0.1870	0.2089	-1.5
chr3	38651442	SCN5A	G	A	1	0.00139776	.	MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202	Brugada_syndrome|not_specified|Cardiovascular_phenotype|not_provided	Benign/Likely_benign	0.0053	synonymous_SNV	exonic	.	0.0067	0.0054	0.0049	0
chr3	38655196	SCN5A	C	T	1	.	.	.	.	.	.	.	intronic	.	.	.	.	2
chr3	38655272	SCN5A	C	T	2	.	2.608	EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:C1141890,Orphanet:ORPHA768,SNOMED_CT:442917000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832680,OMIM:601154|MedGen:CN517202	Primary_dilated_cardiomyopathy|Congenital_long_QT_syndrome|Brugada_syndrome|Dilated_cardiomyopathy_1E|not_provided	Pathogenic	.	nonsynonymous_SNV	exonic	D	.	.	.	4
chr3	38671944	SCN5A	G	A	1	0.0644968	.	MedGen:CN169374	not_specified	Benign	0.0184	.	intronic	.	0.0175	0.0185	0.0191	-1
chr3	38674698	SCN5A	C	T	1	.	5.028	MedGen:CN517202	not_provided	not_provided	0	nonsynonymous_SNV	exonic	D	.	0	.	4
chr3	38674699	SCN5A	G	A	3	0.0371406	5.725	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	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	Benign/Likely_benign	0.0012	nonsynonymous_SNV	exonic	T	0.0013	0.0014	0.0014	-0.5
chr3	38674712	SCN5A	T	C	177	0.781749	.	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	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	Benign/Likely_benign	0.7906	synonymous_SNV	exonic	.	0.8072	0.7949	0.7774	-1.5
chr3	38674747	SCN5A	G	A	1	0.000199681	7.377	MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C4053736,OMIM:604772|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202	Arrhythmogenic_right_ventricular_cardiomyopathy|Brugada_syndrome|Catecholaminergic_polymorphic_ventricular_tachycardia_type_1|not_specified|Cardiovascular_phenotype|not_provided	Conflicting_interpretations_of_pathogenicity	9.096e-05	nonsynonymous_SNV	exonic	D	.	9.862e-05	0.0003	3
chr3	38738936	SCN10A	A	C	1	.	.	.	.	.	.	synonymous_SNV	exonic	.	.	.	.	2
chr3	38739455	SCN10A	G	A	1	0.000199681	.	.	.	.	5.994e-05	synonymous_SNV	exonic	.	0.0002	6.285e-05	0.0001	1
chr3	38739494	SCN10A	G	A	2	0.014377	.	MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374	Brugada_syndrome|not_specified	Benign	0.0303	synonymous_SNV	exonic	.	0.0308	0.0317	0.0334	-1
chr3	38739574	SCN10A	T	C	230	1	0.227	MedGen:CN169374	not_specified	Benign	1	nonsynonymous_SNV	exonic	T	.	1	1	-1
chr3	38739622	SCN10A	C	T	2	0.00638978	0.274	MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374	Brugada_syndrome|not_specified	Benign	0.0144	nonsynonymous_SNV	exonic	T	0.0137	0.0139	0.0133	-1
chr3	38739727	SCN10A	C	T	2	0.000998403	6.647	MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374	Brugada_syndrome|not_specified	Benign	0.0007	nonsynonymous_SNV	exonic	D	0.0019	0.0008	0.0007	2
chr3	38739834	SCN10A	A	G	2	.	4.556	.	.	.	.	nonsynonymous_SNV	exonic	D	.	.	.	3
chr3	38739837	SCN10A	C	A	2	.	6.226	.	.	.	.	nonsynonymous_SNV	exonic	D	.	.	.	4
chr3	38739838	SCN10A	C	T	2	.	6.917	.	.	.	0	nonsynonymous_SNV	exonic	D	.	0	.	4
chr3	38739845	SCN10A	A	G	207	0.92472	.	MedGen:CN169374	not_specified	Benign	0.9180	synonymous_SNV	exonic	.	0.9151	0.9162	0.9122	-1
chr3	38739857	SCN10A	C	T	1	.	6.248	.	.	.	.	nonsynonymous_SNV	exonic	D	.	.	.	4
chr3	38739976	SCN10A	G	A	1	.	13.467	.	.	.	1.499e-05	stopgain	exonic	.	.	8.973e-06	.	6
chr3	38740001	SCN10A	C	T	2	0.0579073	.	MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374	Brugada_syndrome|not_specified	Benign	0.0148	synonymous_SNV	exonic	.	0.0142	0.0143	0.0139	-1
chr3	38740051	SCN10A	G	A	1	.	.	MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005	Brugada_syndrome	Likely_benign	3.038e-05	synonymous_SNV	exonic	.	.	6.328e-05	6.667e-05	2
chr3	38743571	SCN10A	G	A	4	0.000199681	.	MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374	Brugada_syndrome|not_specified	Benign/Likely_benign	0.0016	synonymous_SNV	exonic	.	0.0009	0.0015	0.0042	1
chr3	38748833	SCN10A	T	C	41	0.242412	.	MedGen:CN169374	not_specified	Benign	0.1396	synonymous_SNV	exonic	.	0.1430	0.1404	0.1377	-1
chr3	38753732	SCN10A	A	T	2	0.00119808	-1.271	MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN517202	Brugada_syndrome|not_specified|not_provided	Benign	0.0066	nonsynonymous_SNV	exonic	T	0.0065	0.0072	0.0053	0
chr3	38760151	SCN10A	A	G	1	.	6.175	MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN517202	Brugada_syndrome|not_specified|not_provided	Conflicting_interpretations_of_pathogenicity	0.0008	nonsynonymous_SNV	exonic	D	0.0007	0.0008	0.0007	2
chr3	38763863	SCN10A	G	C	61	0.219649	.	MedGen:CN169374	not_specified	Benign	0.2636	synonymous_SNV	exonic	.	0.2602	0.2571	0.2677	-1
chr3	38764998	SCN10A	A	G	61	0.219649	0.961	MedGen:CN169374	not_specified	Benign	0.3007	nonsynonymous_SNV	exonic	T	0.26	0.2587	0.2678	-1
chr3	38766675	SCN10A	A	G	138	0.757987	-0.943	MedGen:CN169374	not_specified	Benign	0.6036	nonsynonymous_SNV	exonic	T	0.6019	0.6030	0.6167	-1
chr3	38766701	SCN10A	C	T	28	0.115415	.	MedGen:CN169374	not_specified	Benign	0.1411	synonymous_SNV	exonic	.	0.1414	0.1448	0.1510	-1
chr3	38766760	SCN10A	G	T	2	0.00559105	0.370	MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374	Brugada_syndrome|not_specified	Benign	0.0224	nonsynonymous_SNV	exonic	T	0.0317	0.0244	0.0246	-1
chr3	38766825	SCN10A	A	G	9	0.0844649	.	MedGen:CN169374	not_specified	Benign	0.0512	.	intronic	.	0.0492	0.0506	0.0473	-1
chr3	38768247	SCN10A	G	A	60	0.190495	.	MedGen:CN169374	not_specified	Benign	0.2635	synonymous_SNV	exonic	.	0.2614	0.2571	0.2661	-1
chr3	38768300	SCN10A	T	C	60	0.210663	-1.544	MedGen:CN169374	not_specified	Benign	0.2642	nonsynonymous_SNV	exonic	T	0.2620	0.2575	0.2662	-1
chr3	38768334	SCN10A	T	C	10	0.135982	.	MedGen:CN169374	not_specified	Benign	0.0644	synonymous_SNV	exonic	.	0.0648	0.0656	0.0613	-1
chr3	38768368	SCN10A	GGG	AGA	1	.	.	.	.	.	.	nonframeshift_substitution	exonic	.	.	.	.	2
chr3	38768435	SCN10A	T	C	1	.	2.820	.	.	.	.	nonsynonymous_SNV	exonic	T	.	8.959e-06	.	2
chr3	38784029	SCN10A	T	C	134	0.757788	.	MedGen:CN169374	not_specified	Benign	0.5976	.	intronic	.	0.5951	0.5958	0.6096	-1
chr3	38793940	SCN10A	A	G,C	134	.	-2.180	.	.	.	.	nonsynonymous_SNV	exonic	T	.	.	.	4
chr3	38793989	SCN10A	G	A	59	0.207668	.	MedGen:CN169374	not_specified	Benign	0.2599	synonymous_SNV	exonic	.	0.2523	0.2507	0.2585	-1
chr3	38798171	SCN10A	C	T	56	0.207468	.	MedGen:CN169374	not_specified	Benign	0.2542	synonymous_SNV	exonic	.	0.2509	0.2474	0.2567	-1
chr3	38798632	SCN10A	A	G	1	.	.	MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374	Brugada_syndrome|not_specified	Likely_benign	0.0004	synonymous_SNV	exonic	.	0.0008	0.0005	0.0005	0
chr3	38802251	SCN10A	A	G	67	0.388778	.	MedGen:CN169374	not_specified	Benign	0.2855	.	intronic	.	0.2826	0.2779	0.2867	-1
chr3	38805069	SCN10A	T	C	3	0.0419329	1.807	MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374	Brugada_syndrome|not_specified	Benign	0.0156	nonsynonymous_SNV	exonic	T	0.0159	0.0156	0.0147	-1
chr3	38805130	SCN10A	C	G	18	0.11901	.	.	.	.	0.0471	.	intronic	.	0.0463	0.0457	0.0483	-1
chr3	38835348	SCN10A	G	A	1	.	5.592	.	.	.	1.499e-05	nonsynonymous_SNV	exonic	D	.	8.973e-06	.	4
chr3	38835509	SCN10A	T	A	1	0.000599042	.	MedGen:CN169374	not_specified	Likely_benign	0.0014	.	upstream	.	0.0013	0.0015	0.0035	0
chr3	46899855	MYL3	C	T	1	0.00139776	.	MedGen:CN169374	not_specified	Benign	0.0003	.	intronic	.	.	0.0002	0.0002	0
chr3	46899881	MYL3	G	A	1	.	.	.	.	.	.	synonymous_SNV	exonic	.	.	0	0	2
chr3	46899968	MYL3	G	A	1	.	.	MedGen:CN169374	not_specified	Benign	0.0004	.	intronic	.	0.0009	0.0004	0.0013	0
chr3	46902491	MYL3	C	A	2	0.000998403	.	MedGen:C1837471,OMIM:608751|MedGen:CN169374	Familial_hypertrophic_cardiomyopathy_8|not_specified	Benign/Likely_benign	0.0020	.	intronic	.	0.0037	0.0022	0.0023	0
chr3	52485794	TNNC1	C	T	1	.	4.669	.	.	.	.	nonsynonymous_SNV	exonic	D	.	.	.	3
chr3	52485839	TNNC1	T	A	1	.	2.734	.	.	.	.	nonsynonymous_SNV	exonic	T	.	.	.	2
chr3	52486112	TNNC1	G	C	1	.	.	.	.	.	.	.	intronic	.	.	.	.	2
chr3	57817096	SLMAP	GTTTTTTTTTG	GTTTTTTTTTTG	3	0.0109824	.	.	.	.	0.0110	.	intronic	.	0.0146	0.0064	0.0035	-1
chr3	57835502	SLMAP	A	G	1	.	1.283	.	.	.	.	nonsynonymous_SNV	exonic	T	.	8.967e-06	.	2
chr3	57835519	SLMAP	A	G	2	0.000798722	.	MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005	Brugada_syndrome	Benign	0.0036	synonymous_SNV	exonic	.	0.0036	0.0031	0.0025	0
chr3	57846576	SLMAP	TCA	TAA	2	0.228634	.	MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374	Brugada_syndrome|not_specified	Benign	0.2301	.	intronic\x3bintronic	.	0.1615	0.2452	0.2002	-1
chr3	57846577	SLMAP	CAAAAAAAAAATACTAAATAG	AAAAAAAAAAATACTAAATAG,CAAAAAAAAATACTAAATAG	2	.	.	.	.	.	0.0496	.	intronic	.	.	0.0124	0.0004	-1
chr3	57850310	SLMAP	G	A	1	.	.	.	.	.	0.0003	synonymous_SNV	exonic	.	0.0002	0.0002	0.0003	1
chr3	57850505	SLMAP	CTTTTTTTTTTTTGGAC	CTTTTTTTTTTTGGAC,CTTTTTTTTTTTTTGGAC,CTTTTTTTTTTTTGGAA	1	.	.	.	.	.	.	.	intronic	.	.	.	.	2
chr3	57857439	SLMAP	A	G	11	0.0147764	.	MedGen:CN169374	not_specified	Benign	0.0489	.	intronic	.	0.0506	0.0523	0.0452	-1
chr3	57882581	SLMAP	ATTTTTTTCCTCTCTG	ATTTTTTCCTCTCTG	1	.	.	.	.	.	.	.	intronic	.	.	.	.	2
chr3	57882601	SLMAP	C	T	72	0.299521	.	MedGen:CN169374	not_specified	Benign	0.2669	synonymous_SNV	exonic	.	0.2420	0.2560	0.2499	-1
chr3	57898376	SLMAP	T	A	1	0.0071885	.	MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005	Brugada_syndrome	Benign	0.0282	synonymous_SNV	exonic	.	0.0320	0.0294	0.0254	-1
chr3	57899013	SLMAP	ACTCTCTG	ACTCTG	2	.	.	.	.	.	.	.	intronic	.	.	3.82e-05	.	2
chr3	57902639	SLMAP	G	A	8	0.0133786	.	MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005	Brugada_syndrome	Benign	0.0334	synonymous_SNV	exonic	.	0.0322	0.0327	0.033	-1
chr3	57908594	SLMAP	CTTTTTTTTTCTTTGCC	CTTTTTTTTCTTTGCC	42	0.1875	.	.	.	.	0.1998	.	intronic	.	0.1907	0.2014	0.1827	-1
chr3	57908707	SLMAP	A	G	1	0.000199681	2.207	MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005	Brugada_syndrome	Uncertain_significance	0.0001	nonsynonymous_SNV	exonic	T	0.0001	0.0001	6.66e-05	1
chr3	180702510	DNAJC19	A	G	1	0.00139776	.	MedGen:C1857776,OMIM:610198,Orphanet:ORPHA66634|MedGen:CN169374	3-methylglutaconic_aciduria_type_V|not_specified	Conflicting_interpretations_of_pathogenicity	0.0023	.	intronic	.	0.0012	0.0011	0.0022	0
chr3	180704843	DNAJC19	TAATAAAATAAA	TAATAAA	1	.	.	.	.	.	.	.	intronic	.	.	.	.	2
chr3	180705871	DNAJC19	C	T	5	0.00279553	.	MedGen:C1857776,OMIM:610198,Orphanet:ORPHA66634|MedGen:CN169374	3-methylglutaconic_aciduria_type_V|not_specified	Conflicting_interpretations_of_pathogenicity	0.0043	synonymous_SNV\x3bsynonymous_SNV	exonic\x3bexonic	.	0.0044	0.0045	0.0026	2
chr3	180705871	DNAJC19	C	T	3	0.00279553	.	MedGen:C1857776,OMIM:610198,Orphanet:ORPHA66634|MedGen:CN169374	3-methylglutaconic_aciduria_type_V|not_specified	Conflicting_interpretations_of_pathogenicity	0.0043	synonymous_SNV\x3bsynonymous_SNV	exonic\x3bexonic	.	0.0044	0.0045	0.0026	1
chr3	196771513	DLG1	G	A	17	0.0251597	4.635	.	.	.	0.0535	nonsynonymous_SNV	exonic	T	0.0471	0.0510	0.0556	-1
chr3	196771554	DLG1	T	C	17	0.0253594	.	.	.	.	0.0535	synonymous_SNV	exonic	.	0.0470	0.0517	0.0557	-1
chr3	196778421	DLG1	A	C	1	0.0115815	.	.	.	.	0.0046	.	intronic	.	0.0031	0.0038	0.0021	-1
chr3	196778438	DLG1	C	T	76	0.264577	.	.	.	.	0.2687	.	intronic	.	0.28	0.2717	0.2591	-1
chr3	196792163	DLG1	C	T	1	0.00419329	7.123	.	.	.	0.0247	nonsynonymous_SNV	exonic	T	0.0245	0.0250	0.0240	0
chr3	196792663	DLG1	C	A	2	0.000798722	6.053	.	.	.	0.0011	nonsynonymous_SNV	exonic	T	0.0014	0.0010	0.0011	1
chr3	196807928	DLG1	A	C	4	0.00559105	1.923	.	.	.	0.0109	nonsynonymous_SNV	exonic	T	0.0134	0.0119	0.0103	-1
chr3	196808026	DLG1	A	C	2	0.000199681	.	.	.	.	0.0003	.	intronic	.	.	0.0004	0.0003	1
chr3	196817911	DLG1	AAGA	AA	1	.	.	.	.	.	.	.	intronic	.	.	.	.	2
chr3	196842808	DLG1	C	T	1	.	7.410	.	.	.	1.5e-05	nonsynonymous_SNV	exonic	T	.	9.003e-06	.	3
chr3	196865242	DLG1	C	T	46	0.127995	4.417	.	.	.	0.1487	nonsynonymous_SNV	exonic	T	0.1473	0.1455	0.1379	-1
chr3	196869570	DLG1	TTAAGAT	TT	1	.	.	.	.	.	.	.	intronic	.	.	.	.	2
chr3	196869688	DLG1	A	G	230	0.993211	.	.	.	.	1.0000	.	intronic	.	0.9999	1.0000	1	-1
chr3	196876600	DLG1	G	A	37	0.0766773	.	.	.	.	0.1784	.	intronic	.	0.1783	0.1725	0.1723	-1
chr3	196921360	DLG1	T	C	13	0.0145767	2.040	.	.	.	0.0470	nonsynonymous_SNV	exonic	T	0.0443	0.0453	0.0511	-1
chr4	114120284	ANK2	C	T	4	0.0253594	.	MedGen:C0003811,OMIM:115000	Cardiac_arrhythmia	Benign	0.0343	.	intronic	.	0.0293	0.0358	0.0413	-1
chr4	114161619	ANK2	T	C	1	0.00279553	.	.	.	.	0.0110	.	intronic	.	0.0116	0.0122	0.0117	-1
chr4	114161754	ANK2	A	G	1	0.000199681	.	MedGen:CN169374	not_specified	Benign	0.0003	.	intronic	.	0.0003	0.0002	0.0003	1
chr4	114186067	ANK2	A	G	1	0.00159744	.	MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN230736|MedGen:CN517202	Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|Cardiovascular_phenotype|not_provided	Conflicting_interpretations_of_pathogenicity	0.0076	synonymous_SNV	exonic	.	0.0040	0.0035	0.0029	0
chr4	114195737	ANK2	C	T	1	.	7.219	MedGen:CN169374|MedGen:CN230736	not_specified|Cardiovascular_phenotype	Uncertain_significance	2.999e-05	nonsynonymous_SNV	exonic	T	.	6.288e-05	6.668e-05	3
chr4	114208877	ANK2	C	T	1	0.00339457	.	MedGen:C1970119,OMIM:600919	Cardiac_arrhythmia,_ankyrin_B-related	Benign	0.0011	.	intronic	.	0.0008	0.0005	0.0007	0
chr4	114209651	ANK2	C	T	2	0.000998403	.	MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN517202	Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|not_provided	Conflicting_interpretations_of_pathogenicity	0.0046	.	intronic	.	0.0034	0.0041	0.0035	0
chr4	114213551	ANK2	C	T	3	0.00359425	.	.	.	.	0.0183	.	intronic	.	0.0094	0.0125	0.0108	-1
chr4	114213631	ANK2	C	T	5	0.0215655	.	MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN230736	Long_QT_syndrome|Cardiovascular_phenotype	Benign/Likely_benign	0.0445	synonymous_SNV	exonic	.	0.0366	0.0355	0.0472	-1
chr4	114213705	ANK2	C	T	1	0.00499201	.	.	.	.	0.0152	.	intronic	.	0.0122	0.0122	0.0101	-1
chr4	114257201	ANK2	C	T	22	0.260383	.	MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736	Long_QT_syndrome|not_specified|Cardiovascular_phenotype	Benign/Likely_benign	0.0990	synonymous_SNV	exonic	.	0.1038	0.0993	0.1036	-1
chr4	114260492	ANK2	G	T	22	0.228634	.	MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374	Long_QT_syndrome|not_specified	Benign/Likely_benign	0.0990	.	intronic	.	0.1044	0.1002	0.1049	-1
chr4	114267117	ANK2	C	T	1	.	5.639	MedGen:CN230736|MedGen:CN517202	Cardiovascular_phenotype|not_provided	Conflicting_interpretations_of_pathogenicity	0.0002	nonsynonymous_SNV	exonic	T	0.0005	0.0002	0.0004	1
chr4	114269433	ANK2	A	G	1	0.000998403	4.056	MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1141890,Orphanet:ORPHA768,SNOMED_CT:442917000|MedGen:C1833154|MedGen:C1970119,OMIM:600919|MedGen:CN169374|MedGen:CN230736	Long_QT_syndrome|Congenital_long_QT_syndrome|Long_QT_syndrome_4|Cardiac_arrhythmia,_ankyrin_B-related|not_specified|Cardiovascular_phenotype	Conflicting_interpretations_of_pathogenicity	0.0006	nonsynonymous_SNV	exonic	T	0.0002	0.0008	0.0005	0
chr4	114269509	ANK2	G	A	1	0.0960463	.	.	.	.	0.0185	.	intronic	.	0.0213	0.0199	0.0182	-1
chr4	114274908	ANK2	C	A	1	.	2.044	MedGen:CN517202	not_provided	Uncertain_significance	1.516e-05	nonsynonymous_SNV	exonic	T	.	9.104e-06	.	2
chr4	114275014	ANK2	C	G	1	0.000199681	2.646	MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736	Long_QT_syndrome|not_specified|Cardiovascular_phenotype	Conflicting_interpretations_of_pathogenicity	7.558e-05	nonsynonymous_SNV	exonic	T	.	5.422e-05	0	1
chr4	114275243	ANK2	C	T	31	0.0389377	.	MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN169374|MedGen:CN230736	Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|not_specified|Cardiovascular_phenotype	Benign/Likely_benign	0.1139	synonymous_SNV	exonic	.	0.1119	0.1123	0.1214	-1
chr4	114275531	ANK2	C	T	1	0.000199681	.	.	.	.	4.519e-05	synonymous_SNV	exonic	.	.	2.704e-05	.	1
chr4	114275600	ANK2	C	T	1	.	.	.	.	.	3e-05	synonymous_SNV	exonic	.	.	2.695e-05	.	2
chr4	114275942	ANK2	C	G	6	0.11881	.	MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736	Long_QT_syndrome|not_specified|Cardiovascular_phenotype	Benign/Likely_benign	0.0232	synonymous_SNV	exonic	.	0.0244	0.0239	0.0209	-1
chr4	114275980	ANK2	G	A	1	0.000998403	3.507	Human_Phenotype_Ontology:HP:0001695,MedGen:C0018790|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN169374|MedGen:CN230736	Cardiac_arrest|Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|not_specified|Cardiovascular_phenotype	Likely_benign	0.0014	nonsynonymous_SNV	exonic	T	0.0012	0.0013	0.0011	0
chr4	114276422	ANK2	C	G	4	0.00139776	.	MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN230736|MedGen:CN517202	Long_QT_syndrome|Cardiovascular_phenotype|not_provided	Conflicting_interpretations_of_pathogenicity	0.0036	synonymous_SNV	exonic	.	0.0033	0.0037	0.0029	1
chr4	114276686	ANK2	T	C	1	0.000199681	.	MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736	Long_QT_syndrome|not_specified|Cardiovascular_phenotype	Likely_benign	0.0009	synonymous_SNV	exonic	.	0.0003	0.0010	0.0010	0
chr4	114276880	ANK2	TTCAA	CTCAG,TTCAG	1	.	.	.	.	.	.	frameshift_deletion	exonic	.	.	.	.	2
chr4	114276884	ANK2	A	G	11	0.284944	.	MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN169374|MedGen:CN230736	Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|not_specified|Cardiovascular_phenotype	Benign/Likely_benign	0.1603	synonymous_SNV	exonic	.	0.1620	0.1576	0.1616	-1
chr4	114276894	ANK2	G	T	1	.	-2.700	.	.	.	1.499e-05	nonsynonymous_SNV	exonic	T	.	1.801e-05	.	2
chr4	114278277	ANK2	C	T	13	0.187899	0.373	MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736	Long_QT_syndrome|not_specified|Cardiovascular_phenotype	Benign/Likely_benign	0.0414	nonsynonymous_SNV	exonic	T	0.0457	0.0410	0.0371	-1
chr4	114278820	ANK2	G	A	1	0.000399361	0.219	MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202	Long_QT_syndrome|not_specified|Cardiovascular_phenotype|not_provided	Likely_benign	0.0006	nonsynonymous_SNV	exonic	T	0.0008	0.0008	0.0007	0
chr4	114279294	ANK2	A	G	1	0.000199681	-1.082	.	.	.	1.503e-05	nonsynonymous_SNV	exonic	T	.	9.003e-06	6.66e-05	1
chr4	114279422	ANK2	A	G	36	0.0920527	.	MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN169374|MedGen:CN230736	Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|not_specified|Cardiovascular_phenotype	Benign/Likely_benign	0.1192	synonymous_SNV	exonic	.	0.1158	0.1167	0.1244	-1
chr4	114279628	ANK2	T	C	7	0.00399361	4.950	MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202	Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|not_specified|Cardiovascular_phenotype|not_provided	Benign/Likely_benign	0.0114	nonsynonymous_SNV	exonic	D	0.0090	0.0107	0.0123	0
chr4	114279674	ANK2	C	A	6	0.00998403	2.371	MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN169374|MedGen:CN230736	Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|not_specified|Cardiovascular_phenotype	Benign/Likely_benign	0.0264	nonsynonymous_SNV	exonic	D	0.0317	0.0271	0.0297	0
chr4	114279918	ANK2	A	T	1	.	-0.317	.	.	.	1.499e-05	nonsynonymous_SNV	exonic	T	0.0001	8.992e-06	.	2
chr4	114280145	ANK2	G	A	5	0.00199681	.	MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN169374|MedGen:CN230736	Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|not_specified|Cardiovascular_phenotype	Conflicting_interpretations_of_pathogenicity	0.0045	synonymous_SNV	exonic	.	0.0031	0.0038	0.0025	2
chr4	114280329	ANK2	C	T	1	.	.	.	.	.	3e-05	synonymous_SNV	exonic	.	.	9e-06	.	2
chr4	114280434	ANK2	A	T	1	.	3.423	.	.	.	3.014e-05	nonsynonymous_SNV	exonic	D	.	3.606e-05	.	3
chr4	114282025	ANK2	T	C	1	.	.	.	.	.	1.603e-05	synonymous_SNV	exonic	.	0.0002	2.701e-05	.	1
chr4	114284645	ANK2	C	T	36	0.0756789	.	MedGen:C1970119,OMIM:600919|MedGen:CN169374	Cardiac_arrhythmia,_ankyrin_B-related|not_specified	Benign	0.1185	.	intronic	.	0.1156	0.1161	0.1243	-1
chr4	114286207	ANK2	T	A	5	0.00199681	4.753	EFO:EFO_0004269,Human_Phenotype_Ontology:HP:0011675,MedGen:C0855329,SNOMED_CT:248650006|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0003811,OMIM:115000|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202	Arrhythmia|Long_QT_syndrome|Cardiac_arrhythmia|not_specified|Cardiovascular_phenotype|not_provided	Benign/Likely_benign	0.0043	nonsynonymous_SNV	exonic	T	0.0031	0.0037	0.0025	2
chr4	114294308	ANK2	T	C	44	0.313299	.	MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN169374|MedGen:CN230736	Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|not_specified|Cardiovascular_phenotype	Benign/Likely_benign	0.1581	synonymous_SNV	exonic	.	0.1601	0.1561	0.1617	-1
chr4	114302547	ANK2	T	C	1	0.000199681	.	.	.	.	.	.	intronic	.	.	.	.	1
chr4	114302634	ANK2	C	T	5	0.0177716	.	MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN169374	Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|not_specified	Benign/Likely_benign	0.0394	.	UTR3	.	0.0347	0.0373	0.0282	-1
chr4	120072187	MYOZ2	A	G	8	0.00379393	.	Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3151204,OMIM:613838|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202	Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_16|not_specified|Cardiovascular_phenotype|not_provided	Benign	0.0149	synonymous_SNV	exonic	.	0.0140	0.0147	0.0127	-1
chr4	120079159	MYOZ2	A	G	131	0.546326	.	MedGen:C3151204,OMIM:613838|MedGen:CN169374|MedGen:CN517202	Familial_hypertrophic_cardiomyopathy_16|not_specified|not_provided	Benign	0.7014	.	intronic	.	0.7257	0.7092	0.7063	-1
chr4	120085448	MYOZ2	A	G	11	0.0838658	.	Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3151204,OMIM:613838|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202	Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_16|not_specified|Cardiovascular_phenotype|not_provided	Benign/Likely_benign	0.0251	synonymous_SNV	exonic	.	0.0248	0.0257	0.0257	-1
chr4	120107098	MYOZ2	GTTTTTTTTTTA	GTTTTTTTTTTTA	50	0.240216	.	MedGen:CN169374	not_specified	Benign	0.2616	.	intronic	.	0.1878	0.2415	0.2039	-1
chr4	186064502	SLC25A4	G	A	7	0.0788738	.	MedGen:CN169374|MedGen:CN239267	not_specified|Progressive_External_Ophthalmoplegia_with_Mitochondrial_DNA_Deletions	Benign	0.0167	.	UTR5	.	0.0099	0.0102	0.0144	-1
chr4	186064670	SLC25A4	G	T	1	.	.	.	.	.	.	.	intronic	.	.	.	.	2
chr4	186066020	SLC25A4	A	G	1	.	6.039	.	.	.	.	nonsynonymous_SNV	exonic	D	.	.	.	4
chr4	186066373	SLC25A4	T	C	2	0.00239617	.	MedGen:CN169374|MedGen:CN239267	not_specified|Progressive_External_Ophthalmoplegia_with_Mitochondrial_DNA_Deletions	Benign/Likely_benign	0.0109	synonymous_SNV	exonic	.	0.0105	0.0112	0.0143	-1
chr4	186066953	SLC25A4	C	A	2	.	5.420	.	.	.	.	nonsynonymous_SNV	exonic	T	.	.	.	3
chr4	186066962	SLC25A4	TGC	TC	2	.	.	.	.	.	.	frameshift_deletion	exonic	.	.	.	.	2
chr4	186066991	SLC25A4	TGG	TG	2	.	.	.	.	.	.	frameshift_deletion	exonic	.	.	.	.	2
chr4	186423436	PDLIM3	G	A	1	0.00858626	.	MedGen:CN169374	not_specified	Benign	0.0131	.	UTR3	.	0.0129	0.0120	0.0125	-1
chr4	186423612	PDLIM3	T	G	2	.	6.529	.	.	.	.	nonsynonymous_SNV	exonic	D	.	.	.	4
chr4	186423636	PDLIM3	CG	CA	2	.	.	.	.	.	.	frameshift_deletion	exonic	.	.	.	.	2
chr4	186423637	PDLIM3	GCTGT	ACTGT	110	0.659545	.	MedGen:CN169374|MedGen:CN230736	not_specified|Cardiovascular_phenotype	Benign	0.8484	synonymous_SNV	exonic	.	0.8535	0.8525	0.8604	-1
chr4	186423655	PDLIM3	G	A	12	0.139177	.	MedGen:CN169374	not_specified	Benign	0.1615	.	intronic	.	0.1602	0.1637	0.1652	-1
chr4	186425638	PDLIM3	C	T	1	0.000199681	2.167	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	Primary_dilated_cardiomyopathy|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype	Conflicting_interpretations_of_pathogenicity	0.0002	nonsynonymous_SNV	exonic	T	0.0003	0.0002	0.0001	1.5
chr4	186427735	PDLIM3	G	A	3	0.00559105	1.346	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	Primary_dilated_cardiomyopathy|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|not_provided	Benign	0.0242	nonsynonymous_SNV	exonic	T	0.0210	0.0253	0.0287	-2
chr4	186444600	PDLIM3	C	T	1	.	0.989	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	Primary_dilated_cardiomyopathy|Hypertrophic_cardiomyopathy|not_specified	Conflicting_interpretations_of_pathogenicity	0.0003	synonymous_SNV	exonic	.	0.0002	0.0004	0.0002	1.5
chr4	186446224	PDLIM3	C	T	4	0.000399361	.	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	Primary_dilated_cardiomyopathy|Hypertrophic_cardiomyopathy|not_specified	Benign/Likely_benign	0.0010	synonymous_SNV	exonic	.	0.0006	0.0005	.	0.5
chr4	186446257	PDLIM3	G	A	1	0.00259585	.	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	Primary_dilated_cardiomyopathy|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype	Benign	0.0107	synonymous_SNV	exonic	.	0.0099	0.0109	0.0099	-2
chr4	186456614	PDLIM3	TCTA	TCTG,GCTA	1	.	.	.	.	.	.	.	UTR5	.	.	.	.	2
chr4	186456615	PDLIM3	CTA	CTG	4	.	.	.	.	.	.	.	UTR5\x3bUTR5\x3bUTR5	.	.	.	.	3
chr4	186456616	PDLIM3	TA	TG	2	.	.	.	.	.	.	.	UTR5\x3bUTR5\x3bUTR5	.	.	.	.	2
chr4	186456617	PDLIM3	A	G	202	0.948283	.	.	.	.	0.9997	.	UTR5	.	0.9993	0.9996	0.9997	-1
chr5	218441	SDHA	T	G	1	.	.	.	.	.	.	.	UTR5	.	.	.	.	2
chr5	218466	SDHA	CA	CG	1	.	.	.	.	.	.	.	UTR5	.	.	.	.	2
chr5	218487	SDHA	G	A	1	0.00399361	-0.144	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|MedGen:CN517202	Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|Paragangliomas_5|not_specified|not_provided	Benign/Likely_benign	0.0001	nonsynonymous_SNV	exonic	T	.	6.881e-05	0	0
chr5	218520	SDHA	C	T	2	.	2.284	.	.	.	.	nonsynonymous_SNV	exonic	T	.	.	.	2
chr5	218551	SDHA	A	C	2	.	.	.	.	.	.	.	intronic	.	.	.	.	2
chr5	218576	SDHA	A	G,C	2	.	.	.	.	.	.	.	intronic	.	.	.	.	2
chr5	218589	SDHA	A	C	2	.	.	.	.	.	.	.	intronic	.	.	.	.	2
chr5	218598	SDHA	GT	AT,AG	2	.	.	.	.	.	.	.	intronic	.	.	.	.	2
chr5	223646	SDHA	A	T	14	0.0185703	0.820	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	Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|Paragangliomas_5|not_specified	Benign/Likely_benign	0.0442	nonsynonymous_SNV	exonic	T	0.0456	0.0458	0.0444	-1
chr5	224633	SDHA	A	G	18	0.240016	.	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	Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified	Benign/Likely_benign	0.1253	synonymous_SNV	exonic	.	0.1294	0.1261	0.1134	-1
chr5	224640	SDHA	A	G	1	.	.	.	.	.	1.501e-05	.	intronic	.	.	8.983e-06	.	2
chr5	225697	SDHA	G	C	3	0.00359425	.	MedGen:CN169374	not_specified	Benign	0.0063	.	intronic	.	0.0065	0.0058	0.0057	1
chr5	226160	SDHA	A	C	27	0.247404	.	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	Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified	Benign/Likely_benign	0.1279	synonymous_SNV	exonic	.	0.1359	0.1282	0.1135	-1
chr5	228278	SDHA	CTTTTTTTTTC	CTTTTTTTTC	2	0.234625	.	MedGen:CN169374	not_specified	Benign	0.1271	.	intronic	.	0.1308	0.1225	0.1127	-1
chr5	228362	SDHA	T	C	27	0.247404	.	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	Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified	Benign/Likely_benign	0.1275	synonymous_SNV	exonic	.	0.1360	0.1282	0.1140	-1
chr5	230980	SDHA	A	G	193	0.858427	.	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	Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified	Benign/Likely_benign	0.8837	.	intronic	.	0.8817	0.8844	0.8853	-1
chr5	231042	SDHA	C	T	1	0.00998403	.	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	Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|Paragangliomas_5|not_specified	Benign/Likely_benign	0.0036	synonymous_SNV	exonic	.	0.0036	0.0024	0.0025	0
chr5	231111	SDHA	T	C	157	0.653355	.	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	Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified	Benign/Likely_benign	0.7574	synonymous_SNV	exonic	.	0.7582	0.7575	0.7589	-1
chr5	231143	SDHA	T	C	27	0.247404	.	.	.	.	0.1276	.	intronic	.	0.1356	0.1278	0.1139	-1
chr5	233665	SDHA	C	T	4	0.00399361	.	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	Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|Paragangliomas_5|not_specified	Benign/Likely_benign	0.0066	synonymous_SNV	exonic	.	0.0074	0.0061	0.0057	1
chr5	233698	SDHA	G	A	3	0.000399361	.	MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:C3279992,OMIM:614165|MedGen:CN169374	Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|Paragangliomas_5|not_specified	Likely_benign	0.0013	synonymous_SNV	exonic	.	0.0012	0.0015	0.0011	1
chr5	233734	SDHA	C	G	27	0.257788	.	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	Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified	Benign/Likely_benign	0.1283	synonymous_SNV	exonic	.	0.1373	0.1285	0.1132	-1
chr5	235364	SDHA	C	T	4	0.113618	.	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	Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|Paragangliomas_5|not_specified	Benign/Likely_benign	0.0032	synonymous_SNV	exonic	.	0.0035	0.0029	0.0025	-1
chr5	236587	SDHA	G	T	5	0.0151757	.	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	Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|Paragangliomas_5|not_specified	Benign/Likely_benign	0.0235	synonymous_SNV	exonic	.	0.0208	0.0197	0.0196	-1
chr5	236695	SDHA	C	T	1	0.000798722	.	MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:C3279992,OMIM:614165|MedGen:CN169374	Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|Paragangliomas_5|not_specified	Benign/Likely_benign	0.0033	synonymous_SNV	exonic	.	0.0036	0.0019	0.0021	0
chr5	251178	SDHA	G	A	1	0.00199681	.	MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:C3279992,OMIM:614165|MedGen:CN169374	Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|Paragangliomas_5|not_specified	Benign/Likely_benign	0.0029	synonymous_SNV	exonic	.	0.0028	0.0029	0.0015	0
chr5	251199	SDHA	C	T	1	.	.	MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:C3279992,OMIM:614165	Mitochondrial_complex_II_deficiency|Paragangliomas_5	Likely_benign	2.997e-05	synonymous_SNV	exonic	.	.	1.796e-05	0.0001	2
chr5	251469	SDHA	G	A	2	0.248403	.	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	Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified	Benign/Likely_benign	0.1280	synonymous_SNV	exonic	.	.	0.1231	0.1131	-1
chr5	251541	SDHA	A	G	11	0.248403	.	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	Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified	Benign/Likely_benign	0.1276	synonymous_SNV	exonic	.	0.1357	0.1272	0.1137	-1
chr5	251590	SDHA	C	T	1	.	.	.	.	.	.	.	intronic	.	.	.	0	2
chr5	254599	SDHA	A	T	2	.	0.503	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	Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|Paragangliomas_5|not_specified	Benign/Likely_benign	0.1268	nonsynonymous_SNV	exonic	T	0.0448	0.1224	0.1118	-1
chr5	254636	SDHA	C	T	14	0.0355431	.	Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:CN169374	Pheochromocytoma|Leigh_syndrome|Mitochondrial_complex_II_deficiency|not_specified	Benign/Likely_benign	0.1175	.	intronic	.	.	0.1164	0.1161	-1
chr5	256470	SDHA	G	A	1	.	5.629	MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:C3279992,OMIM:614165	Mitochondrial_complex_II_deficiency|Paragangliomas_5	Uncertain_significance	0	nonsynonymous_SNV	exonic	D	.	0	.	4
chr5	256472	SDHA	G	A	27	0.335264	.	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	Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified	Benign/Likely_benign	0.1407	synonymous_SNV	exonic	.	0.1436	0.1323	0.1233	-1
chr5	256509	SDHA	G	A	24	0.175319	0.913	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	Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified	Benign/Likely_benign	0.1205	nonsynonymous_SNV	exonic	T	0.1299	0.1229	0.1084	-1
chr5	256519	SDHA	C	G	1	0.000998403	2.395	MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:C3279992,OMIM:614165	Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|Paragangliomas_5	Conflicting_interpretations_of_pathogenicity	0.0001	nonsynonymous_SNV	exonic	T	0.0001	0.0002	0.0003	0
chr5	37294473	NUP155	T	C	82	0.277157	.	.	.	.	0.3075	synonymous_SNV	exonic	.	0.2929	0.2896	0.2895	-1
chr5	37304962	NUP155	A	T	1	.	.	.	.	.	1.508e-05	.	intronic	.	.	8.98e-06	.	2
chr5	37307389	NUP155	T	C	8	0.0589058	.	.	.	.	0.0429	.	intronic	.	0.0406	0.0425	0.0498	-1
chr5	37309255	NUP155	T	C	3	.	2.004	.	.	.	6.03e-05	nonsynonymous_SNV	exonic	T	.	4.482e-05	6.659e-05	3
chr5	37309280	NUP155	T	G	1	.	3.784	.	.	.	.	nonsynonymous_SNV	exonic	T	.	.	.	2
chr5	37309371	NUP155	TAGAAGAGG	TAGAGG	81	0.269169	.	.	.	.	0.3044	.	intronic	.	0.2911	0.2847	0.2869	-1
chr5	37318089	NUP155	C	G	1	.	5.710	.	.	.	.	.	splicing	.	.	.	.	6
chr5	37333592	NUP155	C	T	1	0.000399361	.	.	.	.	0.0018	synonymous_SNV	exonic	.	0.0006	0.0014	0.0053	0
chr5	37333727	NUP155	A	G	44	0.355032	.	.	.	.	0.1704	synonymous_SNV	exonic	.	0.1599	0.1620	0.1693	-1
chr5	37337900	NUP155	G	A	1	0.000599042	.	.	.	.	0.0027	.	intronic	.	0.0027	0.0032	0.0023	0
chr5	37341352	NUP155	T	C	56	0.188698	.	.	.	.	0.2136	.	intronic	.	0.2115	0.2132	0.2138	-1
chr5	37342755	NUP155	G	C	1	.	.	.	.	.	0.0002	.	intronic	.	0.0001	0.0002	0.0003	1
chr5	37348573	NUP155	C	A	1	0.0127796	.	.	.	.	0.0001	.	intronic	.	0.0002	0.0001	6.668e-05	-1
chr5	37349359	NUP155	ACAAAAAAAAAAAAGAGAAAAAAGTAAACC	AAAAAAAAAAAAAAGAGAAAAAAGTAAACC,ACAAAAAAAAAAAGAGAAAAAAGTAAACC	1	.	.	.	.	.	0.3432	.	intronic\x3bintronic	.	0.1114	0.3448	0.0071	-1
chr5	37349360	NUP155	CAAAAAAAAAAAAGAGAAAAAAGTAAACC	AAAAAAAAAAAAAGAGAAAAAAGTAAACC,CAAAAAAAAAAAGAGAAAAAAGTAAACC	1	.	.	.	.	.	0.3432	.	intronic\x3bintronic	.	0.1114	0.3448	0.0071	-1
chr5	37350390	NUP155	C	A	43	0.33766	.	.	.	.	0.1666	.	intronic	.	0.1597	0.1619	0.1696	-1
chr5	37352816	NUP155	C	T	1	0.000798722	.	.	.	.	9.408e-05	.	intronic	.	0.0002	0.0002	0.0001	0
chr5	37352829	NUP155	G	A	2	0.0656949	.	.	.	.	0.0038	.	intronic	.	0.0041	0.0043	0.0034	-1
chr5	37364443	NUP155	C	T	230	0.969649	.	.	.	.	1.0000	synonymous_SNV\x3bsynonymous_SNV	exonic\x3bexonic	.	0.9999	0.9999	0.9999	-1
chr5	37364443	NUP155	C	T	40	0.969649	.	.	.	.	1.0000	synonymous_SNV\x3bsynonymous_SNV	exonic\x3bexonic	.	0.9999	0.9999	0.9999	-1
chr5	37371059	NUP155	G	A	1	0.0071885	.	.	.	.	0.0105	synonymous_SNV	exonic	.	0.0085	0.0087	0.0098	-1
chr5	155771510	SGCD	G	C	1	0.00139776	3.009	MedGen:C1832525,OMIM:601287,Orphanet:ORPHA219|MedGen:CN072428|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352	Limb-girdle_muscular_dystrophy,_type_2F|Delta-sarcoglycanopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive	Benign/Likely_benign	0.0003	nonsynonymous_SNV	exonic	T	.	0.0002	.	-0.5
chr5	155771533	SGCD	C	G	1	.	0.479	.	.	.	.	nonsynonymous_SNV	exonic	T	.	.	.	2
chr5	155771579	SGCD	T	C	106	0.485423	.	MedGen:C1832525,OMIM:601287,Orphanet:ORPHA219|MedGen:CN072428|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352	Limb-girdle_muscular_dystrophy,_type_2F|Delta-sarcoglycanopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive	Benign	0.4360	synonymous_SNV	exonic	.	0.4316	0.4309	0.4331	-2
chr5	155771587	SGCD	G	A	1	.	7.060	MedGen:C1832525,OMIM:601287,Orphanet:ORPHA219|MedGen:CN169374	Limb-girdle_muscular_dystrophy,_type_2F|not_specified	Uncertain_significance	0.0003	nonsynonymous_SNV	exonic	D	0.0002	0.0003	6.668e-05	3
chr5	155935708	SGCD	G	A	12	0.0189696	7.006	MedGen:C1832525,OMIM:601287,Orphanet:ORPHA219|MedGen:CN072428|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352	Limb-girdle_muscular_dystrophy,_type_2F|Delta-sarcoglycanopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive	Benign/Likely_benign	0.0635	nonsynonymous_SNV	exonic	T	0.0642	0.0636	0.0574	-0.5
chr5	155935720	SGCD	T	C	1	0.00279553	.	Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1832525,OMIM:601287,Orphanet:ORPHA219|MedGen:CN072428|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352	Cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2F|Delta-sarcoglycanopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive	Benign/Likely_benign	0.0084	.	intronic	.	0.0091	0.0077	0.0090	-0.5
chr5	156016201	SGCD	T	A	1	0.0509185	.	MedGen:CN169374	not_specified	Benign	0.0041	.	intronic	.	0.0022	0.0030	0.0023	-1
chr5	156016213	SGCD	A	C	1	.	.	.	.	.	.	.	intronic	.	.	.	.	2
chr5	156016214	SGCD	TG	TT	1	.	.	.	.	.	.	.	intronic	.	.	.	.	2
chr5	172660004	na	C	T	9	0.00479233	.	Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|MedGen:C3276096,OMIM:108900|MedGen:CN169374|MedGen:CN230736	Atrial_septal_defect|Atrial_septal_defect_7_with_or_without_atrioventricular_conduction_defects|not_specified|Cardiovascular_phenotype	Benign/Likely_benign	0.0108	synonymous_SNV	exonic	.	0.0077	0.0069	0.0061	-1
chr5	172660508	na	CAAAAAAAAAAAAAATAAATAAAAAAATAAAAAAATAAAAATAAAACCAGGTG	CAAAAAAAAAAAAAAAAAATAAAAAAATAAAAAAATAAAAATAAAACCAGGTG,CAAAAAAAAAAAAAAATAAATAAAAAAATAAAAAAATAAAAATAAAACCAGGTG,CAAAAAAAAAAAAATAAATAAAAAAATAAAAAAATAAAAATAAAACCAGGTG,CAAAAAAAAAAAAAAATAAAAAAAAATAAAAAAATAAAAATAAAACCAGGTG,CAAAAAAAAAAAAAATAAAAAAAAAAATAAAAAAATAAAAATAAAACCAGGTG,CAAAAAAAAAAAAAATAAATAAATAAATAAAAAAATAAAAATAAAACCAGGTG,TAAAAAAAAAAAAAATAAATAAAAAAATAAAAAAATAAAAATAAAACCAGGTG,AAAAAAAAAAAAAAATAAATAAAAAAATAAAAAAATAAAAATAAAACCAGGTG,CAAAAAAAAAAAATAAATAAAAAAATAAAAAAATAAAAATAAAACCAGGTG	9	.	.	.	.	.	.	.	intronic	.	.	.	.	4
chr5	172660516	na	A	T	1	0.000199681	.	.	.	.	.	.	intronic	.	.	2.489e-05	.	1
chr5	172660519	na	AA	TA,ATA	1	.	.	.	.	.	0.0011	.	intronic	.	0.0059	0.0011	0.0007	0
chr5	172660521	na	AATAAAT	TAAAAAT,AAAAAAA	1	.	.	.	.	.	.	.	intronic\x3bintronic	.	.	.	.	2
chr5	172660522	na	ATAAATA	AAAATA,AAAAATA,AATAAA,ATAAA	1	.	.	.	.	.	.	.	intronic	.	.	.	.	2
chr5	172660523	na	TAAAT	AAAAT,AAAAA,TAAAA	1	.	.	.	.	.	0.0044	.	intronic\x3bintronic\x3bintronic\x3bintronic	.	0.4774	0.0140	0.0033	-1
chr5	172660524	na	AAAT	AAAA	3	.	.	.	.	.	0.0044	.	intronic\x3bintronic\x3bintronic\x3bintronic	.	0.4774	0.0140	0.0033	-1
chr5	172660525	na	AAT	AAA,ATA	3	.	.	.	.	.	.	.	intronic	.	.	.	.	3
chr5	172660526	na	AT	AA	9	.	.	.	.	.	0.0044	.	intronic\x3bintronic\x3bintronic\x3bintronic	.	0.4774	0.0140	0.0033	-1
chr5	172660527	na	T	A	10	0.403355	.	.	.	.	0.3725	.	intronic\x3bintronic	.	.	0.3637	0.4326	-1
chr5	172660531	na	A	T	1	.	.	.	.	.	0.0030	.	intronic\x3bintronic	.	.	0.0028	0.0030	0
chr5	172660535	na	T	A	4	.	.	.	.	.	0.0852	.	intronic	.	.	0.1059	0.0980	-1
chr5	172660573	na	G	T	1	0.000199681	.	.	.	.	.	.	intronic	.	.	.	0.0003	1
chr5	172661831	na	A	G	1	.	1.311	.	.	.	.	nonsynonymous_SNV	exonic	D	.	.	.	3
chr5	172662014	na	G	A	1	0.0101837	6.462	.|Human_Phenotype_Ontology:HP:0001636,MedGen:C0039685,OMIM:187500,Orphanet:ORPHA3303,SNOMED_CT:86299006|Human_Phenotype_Ontology:HP:0011611,MedGen:C0152419,Orphanet:ORPHA2299|MedGen:C0152021,SNOMED_CT:13213009|MedGen:C2673630,OMIM:225250|MedGen:C3276096,OMIM:108900|MedGen:C3280795,OMIM:614435|MedGen:CN169374|MedGen:CN230736	TRUNCUS_ARTERIOSUS|Tetralogy_of_Fallot|Interrupted_aortic_arch|Congenital_heart_disease|Hypothyroidism,_congenital,_nongoitrous,_5|Atrial_septal_defect_7_with_or_without_atrioventricular_conduction_defects|Hypoplastic_left_heart_syndrome_2|not_specified|Cardiovascular_phenotype	Conflicting_interpretations_of_pathogenicity	0.0013	nonsynonymous_SNV	exonic	T	0.0009	0.0010	0.0010	0
chr5	172662024	na	T	C	56	0.535743	.	MedGen:CN169374|MedGen:CN230736	not_specified|Cardiovascular_phenotype	Benign	0.3027	synonymous_SNV	exonic	.	0.2813	0.2975	0.2926	-1
chr6	7542148	DSP	CAT	CAAT,TAT	56	.	.	.	.	.	.	.	UTR5	.	.	.	.	4
chr6	7542253	DSP	G	A	5	0.00339457	.	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	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	Conflicting_interpretations_of_pathogenicity	0.0160	synonymous_SNV	exonic	.	0.0087	0.0095	0.0049	-0.5
chr6	7542274	DSP	T	C	15	0.0609026	.	MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181	Skin_fragility_woolly_hair_syndrome|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC	Benign	0.1147	synonymous_SNV	exonic	.	0.0524	0.0557	0.0529	-1
chr6	7556063	DSP	C	T	11	0.0125799	.	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	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	Benign/Likely_benign	0.0373	.	intronic	.	0.0378	0.0372	0.0343	-1.5
chr6	7559560	DSP	A	C	1	.	5.152	.	.	.	.	nonsynonymous_SNV	exonic	T	.	.	.	3
chr6	7563983	DSP	T	G	230	1	.	MedGen:CN169374	not_specified	Likely_benign	0.9985	synonymous_SNV	exonic	.	0.9981	0.9986	0.9992	-1
chr6	7564041	DSP	G	A	1	0.000199681	.	.	.	.	0.0021	.	intronic	.	0.0009	0.0019	0.0025	0
chr6	7565651	DSP	G	C	1	.	.	MedGen:CN169374	not_specified	Likely_benign	.	synonymous_SNV	exonic	.	.	.	.	2
chr6	7565727	DSP	A	T	14	0.0183706	5.980	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	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	Conflicting_interpretations_of_pathogenicity	0.0394	nonsynonymous_SNV	exonic	D	0.0419	0.0397	0.0387	1.5
chr6	7566616	DSP	A	G	1	.	5.481	MedGen:CN517202	not_provided	Uncertain_significance	4.513e-05	nonsynonymous_SNV	exonic	D	0.0001	2.69e-05	.	4
chr6	7567609	DSP	C	T	2	.	7.332	.	.	.	1.498e-05	nonsynonymous_SNV	exonic	D	.	2.691e-05	.	4
chr6	7569487	DSP	G	A	1	0.00239617	.	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	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	Benign/Likely_benign	0.0010	synonymous_SNV	exonic	.	0.0014	0.0013	0.0009	-0.5
chr6	7569522	DSP	TGG	TGGG	1	.	.	.	.	.	.	frameshift_insertion	exonic	.	.	.	.	2
chr6	7569587	DSP	G	T	1	.	.	MedGen:CN169374	not_specified	Likely_benign	0.0006	.	intronic	.	0.0005	0.0006	0.0006	0
chr6	7570797	DSP	G	A	1	.	5.251	.	.	.	.	.	splicing	.	.	.	.	6
chr6	7571640	DSP	T	C	1	.	5.055	.	.	.	.	nonsynonymous_SNV	exonic	T	.	.	.	3
chr6	7572262	DSP	A	G	191	0.774361	.	MedGen:CN169374	not_specified	Benign	0.7720	synonymous_SNV	exonic	.	0.7795	0.7704	0.7585	-1
chr6	7574978	DSP	ACTGTC	AC	1	.	.	.	.	.	.	frameshift_deletion	exonic	.	.	.	.	2
chr6	7575506	DSP	CTTTTTTTTTTTC	CTTTTTTTTTC	1	.	.	.	.	.	0.0018	.	intronic	.	0.0084	0.0002	7.113e-05	0
chr6	7576527	DSP	G	A	197	0.735423	.	MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181	Skin_fragility_woolly_hair_syndrome|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC	Benign	0.7998	synonymous_SNV	exonic	.	0.8024	0.8007	0.7824	-1
chr6	7576580	DSP	A	G	1	.	4.905	MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:CN169374|MedGen:CN517202	Arrhythmogenic_right_ventricular_cardiomyopathy|not_specified|not_provided	Uncertain_significance	0.0001	nonsynonymous_SNV	exonic	T	0.0001	6.275e-05	6.661e-05	2
chr6	7576619	DSP	G	A	1	.	7.211	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|MedGen:CN517202	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|not_provided	Conflicting_interpretations_of_pathogenicity	0.0015	nonsynonymous_SNV	exonic	T	0.0015	0.0011	0.0005	1.5
chr6	7576670	DSP	G	A	1	0.000199681	4.631	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	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	Conflicting_interpretations_of_pathogenicity	0.0002	nonsynonymous_SNV	exonic	T	0.0002	0.0002	0.0001	1.5
chr6	7577260	DSP	C	T	42	0.27516	.	MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181	Skin_fragility_woolly_hair_syndrome|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC	Benign	0.2210	synonymous_SNV	exonic	.	0.2159	0.2193	0.2309	-1
chr6	7578819	DSP	TAGCG	GAGCA	197	.	.	.	.	.	.	.	intronic	.	.	.	.	4
chr6	7580197	DSP	C	A	1	.	0.576	MedGen:C1843896,OMIM:607450|MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282	Arrhythmogenic_right_ventricular_cardiomyopathy,_type_8|Dilated_cardiomyopathy_with_woolly_hair_and_keratoderma	Uncertain_significance	4.548e-05	nonsynonymous_SNV	exonic	T	.	2.698e-05	.	2
chr6	7580243	DSP	G	C	1	.	3.491	.	.	.	.	nonsynonymous_SNV	exonic	D	.	.	.	3
chr6	7580386	DSP	G	A	4	0.00579073	.	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	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	Conflicting_interpretations_of_pathogenicity	0.0192	synonymous_SNV	exonic	.	0.0149	0.0178	0.0175	-0.5
chr6	7580806	DSP	G	A	1	.	.	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	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	Benign/Likely_benign	0.0030	synonymous_SNV	exonic	.	0.0022	0.0035	0.0025	-0.5
chr6	7580958	DSP	A	G	7	0.203275	0.670	MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181	Skin_fragility_woolly_hair_syndrome|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC	Benign	0.0455	nonsynonymous_SNV	exonic	T	0.0442	0.0418	0.0382	-1
chr6	7581032	DSP	C	T	3	0.00359425	5.054	MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C0520806|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|MedGen:CN517202	Arrhythmogenic_right_ventricular_cardiomyopathy|Sudden_unexplained_death|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|not_provided	Benign/Likely_benign	0.0142	nonsynonymous_SNV	exonic	T	0.0143	0.0152	0.0133	-0.5
chr6	7581196	DSP	G	A	4	0.0071885	.	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:CN230736|MedGen:CN239181	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	Benign/Likely_benign	0.0193	synonymous_SNV	exonic	.	0.0174	0.0192	0.0175	-1.5
chr6	7581636	DSP	G	A	23	0.240415	0.509	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	Skin_fragility_woolly_hair_syndrome|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC|not_provided	Benign	0.1230	nonsynonymous_SNV	exonic	T	0.1257	0.1218	0.1245	-1
chr6	7581641	DSP	G	A	1	0.000399361	0.993	EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|Gene:192115,Human_Phenotype_Ontology:HP:0002076,MedGen:C0149931,OMIM:157300,SNOMED_CT:37796009|Human_Phenotype_Ontology:HP:0002301,MedGen:C0018991|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|MedGen:CN239850|MedGen:CN517202	Primary_dilated_cardiomyopathy|Migraine|Hemiplegia|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|Arrhythmogenic_right_ventricular_dysplasia|not_provided	Conflicting_interpretations_of_pathogenicity	0.0016	nonsynonymous_SNV	exonic	T	0.0013	0.0019	0.0011	0.5
chr6	7582993	DSP	A	T	1	0.00399361	6.311	MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|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|MedGen:CN517202	Arrhythmogenic_right_ventricular_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|not_provided	Conflicting_interpretations_of_pathogenicity	0.0139	nonsynonymous_SNV	exonic	T	0.0130	0.0136	0.0147	0.5
chr6	7583089	DSP	A	G	1	.	1.310	.	.	.	0	nonsynonymous_SNV	exonic	T	.	0	.	2
chr6	7583703	DSP	G	A	2	0.00259585	6.909	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|MedGen:CN517202	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|not_provided	Conflicting_interpretations_of_pathogenicity	0.0060	nonsynonymous_SNV	exonic	T	0.0045	0.0057	0.0043	1.5
chr6	7583885	DSP	T	C	1	0.00658946	.	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	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	Benign/Likely_benign	0.0127	synonymous_SNV	exonic	.	0.0136	0.0142	0.0129	-1.5
chr6	7584260	DSP	G	A	1	.	.	.	.	.	.	synonymous_SNV	exonic	.	.	.	.	2
chr6	7584617	DSP	C	T	110	0.211661	.	MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181	Skin_fragility_woolly_hair_syndrome|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC	Benign	0.3568	synonymous_SNV	exonic	.	0.3690	0.3556	0.3318	-1
chr6	7585625	DSP	A	G	1	.	.	.	.	.	.	synonymous_SNV	exonic	.	.	.	.	2
chr6	7585670	DSP	C	A	20	0.0239617	.	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	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	Benign/Likely_benign	0.0674	synonymous_SNV	exonic	.	0.0633	0.0675	0.0605	-1.5
chr6	7585796	DSP	C	G	1	0.000798722	.	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:CN230736|MedGen:CN239181	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	Benign/Likely_benign	0.0008	synonymous_SNV	exonic	.	0.0006	0.0005	0.0005	-0.5
chr6	7585967	DSP	G	C	179	0.709465	.	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	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	Benign	0.7101	synonymous_SNV	exonic	.	0.7173	0.7084	0.6820	-2
chr6	7586120	DSP	T	A	2	0.00319489	.	MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|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|MedGen:CN517202	Arrhythmogenic_right_ventricular_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|not_provided	Benign/Likely_benign	0.0075	.	UTR3	.	0.0109	0.0072	0.0071	-1.5
chr6	26087736	HFE	G	A	1	0.000798722	5.610	MedGen:C0392514,SNOMED_CT:35400008	Hereditary_hemochromatosis	Uncertain_significance	0.0005	nonsynonymous_SNV	exonic	T	0.0003	0.0006	0.0004	1
chr6	26091179	HFE	C	G	28	0.0730831	4.570	MedGen:C0392514,SNOMED_CT:35400008|MedGen:C2673520,OMIM:612635|MedGen:C3469186,OMIM:235200|MedGen:CN517202	Hereditary_hemochromatosis|Microvascular_complications_of_diabetes_7|Hemochromatosis_type_1|not_provided	Pathogenic,_other,_risk_factor	0.1368	nonsynonymous_SNV\x3bnonsynonymous_SNV	exonic\x3bexonic	D	0.1513	0.1441	0.1440	-1
chr6	26091179	HFE	C	G	8	0.0730831	4.570	MedGen:C0392514,SNOMED_CT:35400008|MedGen:C2673520,OMIM:612635|MedGen:C3469186,OMIM:235200|MedGen:CN517202	Hereditary_hemochromatosis|Microvascular_complications_of_diabetes_7|Hemochromatosis_type_1|not_provided	Pathogenic,_other,_risk_factor	0.1368	nonsynonymous_SNV\x3bnonsynonymous_SNV	exonic\x3bexonic	D	0.1513	0.1441	0.1440	-1
chr6	26091185	HFE	A	T	1	0.00399361	4.972	MedGen:C0392514,SNOMED_CT:35400008|MedGen:C3469186,OMIM:235200	Hereditary_hemochromatosis|Hemochromatosis_type_1	Uncertain_significance	0.0149	nonsynonymous_SNV	exonic	D	0.0151	0.0155	0.0137	0
chr6	26091336	HFE	T	C	78	0.426717	.	MedGen:C0392514,SNOMED_CT:35400008|MedGen:CN169374	Hereditary_hemochromatosis|not_specified	Benign/Likely_benign	0.3205	.	intronic\x3bintronic	.	0.3356	0.3247	0.3213	-1
chr6	26091336	HFE	T	C	15	0.426717	.	MedGen:C0392514,SNOMED_CT:35400008|MedGen:CN169374	Hereditary_hemochromatosis|not_specified	Benign/Likely_benign	0.3205	.	intronic\x3bintronic	.	0.3356	0.3247	0.3213	-1
chr6	26093049	HFE	C	T	1	.	.	.	.	.	.	synonymous_SNV	exonic	.	.	1.79e-05	0	2
chr6	26093141	HFE	G	A	2	0.0125799	5.270	.|.|.|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	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	Conflicting_interpretations_of_pathogenicity,_association,_other,_risk_factor	0.0514	nonsynonymous_SNV	exonic	D	0.0641	0.0573	0.0593	1
chr6	26093474	HFE	A	G	1	0.000599042	.	.	.	.	0.0011	.	intronic	.	0.0003	0.0011	0.0011	0
chr6	26094367	HFE	G	A	127	0.590655	.	.	.	.	0.4562	.	intronic	.	0.4708	0.4553	0.4539	-1
chr6	26094383	HFE	T	G	1	0.000199681	.	.	.	.	0.0006	.	intronic	.	0.0003	0.0005	0.0024	0
chr6	76540112	MYO6	G	A	1	0.0159744	.	.	.	.	0.0028	.	intronic	.	0.0005	0.0014	0.0022	-1
chr6	76545684	MYO6	T	C	28	0.102636	.	MedGen:CN169374|MedGen:CN239435|MedGen:CN239439	not_specified|Nonsyndromic_Hearing_Loss,_Dominant|Nonsyndromic_Hearing_Loss,_Recessive	Benign/Likely_benign	0.1482	.	intronic	.	0.1521	0.1492	0.1487	-1
chr6	76554593	MYO6	G	A	229	0.997804	.	.	.	.	0.9853	.	intronic	.	0.9868	0.9856	0.9873	-1
chr6	76558260	MYO6	ATTTTTTTAAG	ATTTTTTTTAAG	16	0.139577	.	MedGen:CN169374|MedGen:CN239435|MedGen:CN239439	not_specified|Nonsyndromic_Hearing_Loss,_Dominant|Nonsyndromic_Hearing_Loss,_Recessive	Likely_benign	0.0582	.	intronic	.	0.0583	0.0576	0.0565	-1
chr6	76570815	MYO6	ATGT	AT	2	.	.	.	.	.	.	.	intronic	.	.	.	.	2
chr6	76572422	MYO6	G	A	1	0.00439297	.	MedGen:CN169374|MedGen:CN239435|MedGen:CN239439	not_specified|Nonsyndromic_Hearing_Loss,_Dominant|Nonsyndromic_Hearing_Loss,_Recessive	Benign/Likely_benign	2.998e-05	synonymous_SNV	exonic	.	0.0002	6.271e-05	0.0002	0
chr6	76576264	MYO6	G	A	1	.	2.759	.	.	.	.	nonsynonymous_SNV	exonic	T	.	.	.	2
chr6	76576290	MYO6	C	T	13	0.0289537	.	MedGen:CN169374|MedGen:CN239435|MedGen:CN239439	not_specified|Nonsyndromic_Hearing_Loss,_Dominant|Nonsyndromic_Hearing_Loss,_Recessive	Benign/Likely_benign	0.0624	synonymous_SNV	exonic	.	0.0609	0.0615	0.0583	-1
chr6	76589518	MYO6	T	C	2	0.000798722	.	.	.	.	0.0018	.	intronic	.	0.0013	0.0017	0.0011	0
chr6	76596587	MYO6	C	T	1	0.00139776	3.765	MedGen:CN169374	not_specified	Benign/Likely_benign	0.0040	nonsynonymous_SNV	exonic	D	0.0062	0.0046	0.0046	1
chr6	76596728	MYO6	C	T,A	1	.	.	.	.	.	.	.	intronic	.	.	.	.	2
chr6	76596731	MYO6	A	C	2	0.0389377	.	MedGen:CN169374	not_specified	Benign	0.0056	.	intronic	.	0.0020	0.0030	0.0059	-1
chr6	76602282	MYO6	G	A	1	0.00359425	.	MedGen:CN169374	not_specified	Benign/Likely_benign	0.0074	synonymous_SNV	exonic	.	0.0084	0.0081	0.0072	0
chr6	76608105	MYO6	A	G	1	.	.	.	.	.	.	synonymous_SNV	exonic	.	.	.	.	2
chr6	76608128	MYO6	G	C	1	.	2.861	Human_Phenotype_Ontology:HP:0000789,MedGen:C0021359|Human_Phenotype_Ontology:HP:0003251,MedGen:C0021364,Orphanet:ORPHA98048,SNOMED_CT:2904007|MedGen:CN169374	Infertility|Male_infertility|not_specified	Uncertain_significance	0.0003	nonsynonymous_SNV	exonic	T	0.0001	0.0004	0.0005	1
chr6	76617311	MYO6	A	G	1	.	.	.	.	.	4.561e-05	.	intronic	.	.	4.481e-05	.	2
chr6	76624538	MYO6	G	A	10	0.00559105	7.271	MedGen:CN169374|MedGen:CN239435|MedGen:CN239439	not_specified|Nonsyndromic_Hearing_Loss,_Dominant|Nonsyndromic_Hearing_Loss,_Recessive	Benign/Likely_benign	0.0140	nonsynonymous_SNV	exonic	D	0.0130	0.0122	0.0090	1
chr6	76624741	MYO6	C	T	72	0.146965	.	MedGen:CN169374|MedGen:CN239435|MedGen:CN239439	not_specified|Nonsyndromic_Hearing_Loss,_Dominant|Nonsyndromic_Hearing_Loss,_Recessive	Benign/Likely_benign	0.3592	.	UTR3	.	0.3343	0.3327	0.3216	-1
chr6	112435264	LAMA4	T	G	60	0.240016	.	MedGen:C3808935,OMIM:615235|MedGen:CN169374	Dilated_cardiomyopathy_1JJ|not_specified	Benign	0.2679	.	intronic	.	0.2706	0.2662	0.2602	-2
chr6	112435273	LAMA4	A	C	60	0.240016	.	MedGen:C3808935,OMIM:615235|MedGen:CN169374	Dilated_cardiomyopathy_1JJ|not_specified	Benign	0.2678	.	intronic	.	0.2716	0.2663	0.2608	-2
chr6	112435335	LAMA4	G	A	1	0.000599042	7.024	MedGen:CN169374	not_specified	Uncertain_significance	0.0002	nonsynonymous_SNV	exonic	D	.	0.0002	.	2
chr6	112435912	LAMA4	A	T	62	0.281749	.	MedGen:C3808935,OMIM:615235|MedGen:CN169374	Dilated_cardiomyopathy_1JJ|not_specified	Benign	0.2904	synonymous_SNV	exonic	.	0.2894	0.2864	0.2846	-2
chr6	112440464	LAMA4	G	A	1	0.0666933	.	MedGen:C3808935,OMIM:615235|MedGen:CN169374	Dilated_cardiomyopathy_1JJ|not_specified	Benign	0.0013	synonymous_SNV	exonic	.	0.0020	0.0011	0.0007	-2
chr6	112441510	LAMA4	T	C	1	.	.	.	.	.	1.501e-05	synonymous_SNV	exonic	.	0.0001	8.976e-06	.	2
chr6	112441690	LAMA4	G	C	1	.	.	.	.	.	.	.	intronic	.	.	.	.	2
chr6	112457383	LAMA4	G	C	58	0.210463	4.097	MedGen:C3808935,OMIM:615235|MedGen:CN169374	Dilated_cardiomyopathy_1JJ|not_specified	Benign	0.2560	nonsynonymous_SNV	exonic	T	0.2603	0.2561	0.2516	-2
chr6	112457390	LAMA4	C	T	157	0.839856	2.280	MedGen:C3808935,OMIM:615235|MedGen:CN169374	Dilated_cardiomyopathy_1JJ|not_specified	Benign	0.7033	nonsynonymous_SNV	exonic	T	0.6965	0.7023	0.7204	-2
chr6	112457418	LAMA4	T	G	1	.	.	.	.	.	3.001e-05	synonymous_SNV	exonic	.	.	1.797e-05	.	2
chr6	112457428	LAMA4	T	C	1	.	-0.640	MedGen:CN169374	not_specified	Likely_benign	0.0001	nonsynonymous_SNV	exonic	T	.	7.19e-05	.	2
chr6	112457471	LAMA4	G	A	157	0.840455	.	MedGen:C3808935,OMIM:615235|MedGen:CN169374	Dilated_cardiomyopathy_1JJ|not_specified	Benign	0.7030	.	intronic	.	0.6959	0.7021	0.7197	-2
chr6	112460359	LAMA4	G	A	1	.	4.673	MedGen:C3808935,OMIM:615235|MedGen:CN169374	Dilated_cardiomyopathy_1JJ|not_specified	Uncertain_significance	1.498e-05	nonsynonymous_SNV	exonic	T	.	1.795e-05	.	2
chr6	112460365	LAMA4	C	T	3	0.00359425	8.015	MedGen:C3808935,OMIM:615235|MedGen:CN169374	Dilated_cardiomyopathy_1JJ|not_specified	Benign	0.0138	nonsynonymous_SNV	exonic	D	0.0130	0.0139	0.0135	0
chr6	112463362	LAMA4	C	T	1	.	0.992	.	.	.	0	nonsynonymous_SNV	exonic	T	.	2.688e-05	6.663e-05	2
chr6	112463419	LAMA4	C	T	1	0.000199681	1.299	MedGen:C3808935,OMIM:615235|MedGen:CN169374|MedGen:CN230736	Dilated_cardiomyopathy_1JJ|not_specified|Cardiovascular_phenotype	Conflicting_interpretations_of_pathogenicity	0.0001	nonsynonymous_SNV	exonic	T	0.0002	0.0002	6.662e-05	1.5
chr6	112466073	LAMA4	G	A	1	.	12.165	.	.	.	0	stopgain	exonic	.	.	0	.	6
chr6	112469404	LAMA4	C	A	1	.	6.411	.	.	.	2.997e-05	nonsynonymous_SNV	exonic	T	0.0001	1.793e-05	0	3
chr6	112471688	LAMA4	G	C	60	0.3127	.	.	.	.	0.2714	.	intronic	.	0.2797	0.2705	0.2618	-1
chr6	112476767	LAMA4	A	G	1	.	.	MedGen:C3808935,OMIM:615235|MedGen:CN169374|MedGen:CN230736	Dilated_cardiomyopathy_1JJ|not_specified|Cardiovascular_phenotype	Conflicting_interpretations_of_pathogenicity	0.0014	synonymous_SNV	exonic	.	0.0009	0.0014	0.0020	0.5
chr6	112480041	LAMA4	A	G	13	0.091254	.	MedGen:CN169374	not_specified	Benign	0.0987	synonymous_SNV	exonic	.	0.0881	0.0964	0.1301	-1
chr6	112493872	LAMA4	A	G	152	0.758387	-0.041	MedGen:C3808935,OMIM:615235|MedGen:CN169374	Dilated_cardiomyopathy_1JJ|not_specified	Benign	0.6004	nonsynonymous_SNV	exonic	T	0.6020	0.5971	0.6020	-2
chr6	112496511	LAMA4	C	A	5	0.08127	.	MedGen:C3808935,OMIM:615235|MedGen:CN169374	Dilated_cardiomyopathy_1JJ|not_specified	Benign	0.0145	.	intronic	.	0.0110	0.0128	0.0112	-2
chr6	112496690	LAMA4	G	C	1	0.0315495	.	MedGen:C3808935,OMIM:615235|MedGen:CN169374	Dilated_cardiomyopathy_1JJ|not_specified	Benign	0.0004	.	intronic	.	0.0005	0.0006	0.0004	-2
chr6	112499338	LAMA4	T	C	1	.	3.552	.	.	.	.	nonsynonymous_SNV	exonic	T	.	.	.	2
chr6	112506519	LAMA4	C	T	1	.	2.493	MedGen:CN169374	not_specified	Likely_benign	0.0002	nonsynonymous_SNV	exonic	T	.	5.376e-05	6.667e-05	1
chr6	112506583	LAMA4	G	T	181	0.900559	.	.	.	.	0.7137	.	intronic	.	0.7115	0.7083	0.7025	-1
chr6	112508694	LAMA4	A	G	4	0.000199681	.	MedGen:C3808935,OMIM:615235|MedGen:CN169374	Dilated_cardiomyopathy_1JJ|not_specified	Benign	0.0038	synonymous_SNV	exonic	.	0.0036	0.0039	0.0039	0
chr6	112508755	LAMA4	G	C	1	0.000399361	1.056	MedGen:C3808935,OMIM:615235|MedGen:CN169374	Dilated_cardiomyopathy_1JJ|not_specified	Conflicting_interpretations_of_pathogenicity	0.0007	nonsynonymous_SNV	exonic	T	0.0003	0.0006	0.0005	0.5
chr6	112508769	LAMA4	TG	GT	230	.	.	MedGen:CN169374	not_specified	Benign	.	nonframeshift_substitution	exonic	.	.	.	.	4
chr6	112512903	LAMA4	CCG	CCA	2	.	.	.	.	.	.	frameshift_deletion	exonic	.	.	.	.	2
chr6	112512905	LAMA4	G	A,T	2	.	.	.	.	.	.	synonymous_SNV	exonic	.	.	.	.	2
chr6	112522852	LAMA4	G	A	25	0.0309505	7.272	MedGen:CN169374	not_specified	Benign	0.0609	nonsynonymous_SNV	exonic	T	0.0649	0.0648	0.0627	0
chr6	112522893	LAMA4	A	C	4	0.0207668	.	MedGen:C3808935,OMIM:615235|MedGen:CN169374	Dilated_cardiomyopathy_1JJ|not_specified	Benign	0.0140	.	intronic	.	0.0103	0.0122	0.0107	-2
chr6	112537682	LAMA4	A	G	12	0.0121805	.	MedGen:C3808935,OMIM:615235|MedGen:CN169374	Dilated_cardiomyopathy_1JJ|not_specified	Benign	0.0252	.	intronic	.	0.0195	0.0231	0.0220	-2
chr6	112575014	LAMA4	A	G	1	0.00599042	.	MedGen:C3808935,OMIM:615235|MedGen:CN169374	Dilated_cardiomyopathy_1JJ|not_specified	Benign	0.0166	synonymous_SNV	exonic	.	0.0143	0.0158	0.0229	-2
chr6	112575162	LAMA4	G	A	1	.	0.431	.	.	.	6.334e-05	nonsynonymous_SNV	exonic	T	0.0001	4.517e-05	.	2
chr6	121768398	GJA1	C	T	1	.	.	.	.	.	0	synonymous_SNV	exonic	.	.	0	.	2
chr6	121768710	GJA1	G	A	4	0.034345	.	MedGen:C0039075,Orphanet:ORPHA90025|MedGen:C0812437,OMIM:164200|MedGen:C2749477,OMIM:257850|MedGen:CN031062,OMIM:241550|MedGen:CN169374	Syndactyly|Oculodentodigital_dysplasia|Oculodentodigital_dysplasia,_autosomal_recessive|Hypoplastic_left_heart_syndrome_1|not_specified	Benign/Likely_benign	0.0126	synonymous_SNV	exonic	.	0.0148	0.0124	0.0153	-1
chr6	121768751	GJA1	C	T	5	0.00299521	0.820	MedGen:C0812437,OMIM:164200|MedGen:C2749477,OMIM:257850|MedGen:CN169374	Oculodentodigital_dysplasia|Oculodentodigital_dysplasia,_autosomal_recessive|not_specified	Benign/Likely_benign	0.0123	nonsynonymous_SNV	exonic	T	0.0160	0.0138	0.0119	-1
chr6	121769144	GJA1	TAC	TAAC	9	0.0579073	.	MedGen:C0039075,Orphanet:ORPHA90025|MedGen:C0812437,OMIM:164200|MedGen:CN031062,OMIM:241550|MedGen:CN169374	Syndactyly|Oculodentodigital_dysplasia|Hypoplastic_left_heart_syndrome_1|not_specified	Benign	0.0447	.	UTR3	.	0.0471	0.0426	0.0512	-1
chr6	123539731	TRDN	G	A	1	.	.	MedGen:C1631597,Orphanet:ORPHA3286	Catecholaminergic_polymorphic_ventricular_tachycardia	Uncertain_significance	0.0008	.	UTR3	.	0.0010	0.0006	0.0005	0
chr6	123539904	TRDN	C	T	108	0.375998	.	MedGen:CN169374	not_specified	Benign	0.5013	.	intronic	.	0.4593	0.4754	0.4510	-1
chr6	123542581	TRDN	G	A	1	0.0061901	.	.	.	.	.	.	intronic	.	.	.	0.0002	0
chr6	123545159	TRDN	GAAAAAAAAAAAAAAGACAGACAAAAACCT	GAAAAAAAAAAAAAGACAGACAAAAACCT,TAAAAAAAAAAAAAAGACAGACAAAAACCT,GAAAAAAAAAAAAGACAGACAAAAACCT	1	.	.	.	.	.	.	.	intronic	.	.	.	0.0025	2
chr6	123580844	TRDN	A	T	1	.	.	.	.	.	.	.	intronic	.	.	8.066e-05	.	2
chr6	123581789	TRDN	GAAAAAAAAAAAAAAAG	AAAAAAAAAAAAAAAAG,GAAAAAAAAAAAAAAAA,TAAAAAAAAAAAAAAAG	1	.	.	.	.	.	.	.	intronic	.	.	.	.	2
chr6	123586502	TRDN	A	C	1	.	.	.	.	.	.	.	intronic	.	.	.	.	2
chr6	123594181	TRDN	T	G	1	.	.	.	.	.	.	.	intronic	.	.	.	.	2
chr6	123594217	TRDN	G	A	3	0.00219649	.	.	.	.	.	.	intronic	.	.	.	0.0056	1
chr6	123594425	TRDN	C	T	1	0.00299521	.	.	.	.	.	.	intronic	.	.	.	0.0024	0
chr6	123594508	TRDN	GCTAAAATAAATAAATAAC	GCTAAAAATAAATAAATAAC,TCTAAAATAAATAAATAAC	1	.	-0.279	.	.	.	.	nonsynonymous_SNV	exonic	T	.	.	.	2
chr6	123594510	TRDN	TAAAATAAATAAATAAC	TAAAAATAAATAAATAAC	46	0.262979	.	MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736	Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype	Benign/Likely_benign	0.2040	.	splicing\x3bsplicing	.	0.1584	0.1639	0.1900	-1
chr6	123595869	TRDN	A	C	48	0.263179	.	.	.	.	.	.	intronic	.	0.1708	.	0.1901	-1
chr6	123599505	TRDN	A	C	4	0.00279553	.	MedGen:CN169374	not_specified	Benign/Likely_benign	0.0159	.	intronic	.	0.0092	0.0108	0.0081	-1
chr6	123600171	TRDN	G	A	2	0.0708866	.	.	.	.	0.0002	.	intronic	.	0.0007	0.0004	0.0007	-1
chr6	123653127	TRDN	A	G	2	0.000798722	.	.	.	.	.	.	intronic	.	0.0047	.	0.0052	0
chr6	123658776	TRDN	G	T	1	0.113618	1.948	MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736	Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype	Benign/Likely_benign	0.0009	nonsynonymous_SNV	exonic	T	0.0008	0.0015	0.0013	-1
chr6	123658825	TRDN	G	T	50	0.29373	.	MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374	Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified	Benign	0.1911	.	intronic	.	0.1503	0.1684	0.1899	-1
chr6	123673628	TRDN	C	T	7	0.00898562	.	.	.	.	0.0404	.	UTR3	.	0.0399	0.0417	0.0465	-1
chr6	123687241	TRDN	C	G	2	0.11881	.	.	.	.	0.0007	.	intronic	.	0.0011	0.0010	0.0010	-1
chr6	123687265	TRDN	T	C	1	.	.	.	.	.	6.65e-05	.	intronic	.	.	4.507e-05	0	2
chr6	123687288	TRDN	A	C	216	0.939297	0.489	MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736	Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype	Benign	0.9106	nonsynonymous_SNV	exonic	T	0.9156	0.9089	0.9157	-1
chr6	123687403	TRDN	A	G	1	.	.	.	.	.	.	.	intronic	.	.	.	.	2
chr6	123696766	TRDN	G	T	31	0.147364	0.783	MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736	Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype	Benign/Likely_benign	0.1474	nonsynonymous_SNV	exonic	T	0.1188	0.1186	0.1296	-1
chr6	123698790	TRDN	TGT	TT	2	0.000599042	.	.	.	.	.	.	intronic	.	0.0001	.	0.0003	0
chr6	123699019	TRDN	A	C	23	0.169129	2.548	MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736	Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype	Benign/Likely_benign	0.1831	nonsynonymous_SNV	exonic	T	0.1454	0.1525	0.1686	-1
chr6	123699042	TRDN	T	C	83	0.272165	.	MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736	Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype	Benign/Likely_benign	0.4311	synonymous_SNV	exonic	.	0.3635	0.3904	0.3618	-1
chr6	123702464	TRDN	T	A	1	.	.	.	.	.	.	.	intronic	.	.	.	6.708e-05	2
chr6	123702499	TRDN	G	A	78	0.476238	.	MedGen:CN169374	not_specified	Benign	0.3708	.	intronic	.	0.3270	0.3220	0.3635	-1
chr6	123702599	TRDN	A	G	2	.	.	.	.	.	.	.	intronic	.	.	.	.	2
chr6	123714764	TRDN	C	T	11	0.0163738	.	MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736	Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype	Benign/Likely_benign	0.0819	.	intronic	.	0.0483	0.0498	0.0479	-1
chr6	123833454	TRDN	CCAGTG	CCACTG	4	0.843251	-0.289	MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736	Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype	Benign	0.8300	nonsynonymous_SNV\x3bnonsynonymous_SNV	exonic\x3bexonic	T	0.8615	0.8470	0.8672	-1
chr6	123833456	TRDN	AG	AC	6	.	.	.	.	.	.	frameshift_deletion	exonic	.	.	.	.	4
chr6	123833457	TRDN	G	C	177	0.843251	-0.289	MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736	Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype	Benign	0.8300	nonsynonymous_SNV\x3bnonsynonymous_SNV	exonic\x3bexonic	T	0.8615	0.8470	0.8672	-1
chr6	123851610	TRDN	G	A	135	0.497404	.	.	.	.	0.6181	.	intronic	.	.	0.6339	0.6409	-1
chr6	123868506	TRDN	C	T	6	0.00279553	4.510	MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736	Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype	Benign	0.0134	nonsynonymous_SNV	exonic	T	0.0099	0.0117	0.0138	-1
chr6	123869607	TRDN	G	C	116	0.392971	-0.436	MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736	Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype	Benign	0.5608	nonsynonymous_SNV	exonic	T	0.5375	0.5166	0.5242	-1
chr6	123869769	TRDN	TAAAAAAAAAAAAAAAGAAAAAGTTTG	TAAAAAAAAAAAAAGAAAAAGTTTG,TAAAAAAAAAAAAGAAAAAGTTTG,TAAAAAAAAAAAAAAGAAAAAGTTTG,TAAAAAAAAAAAAAAAAAAAAATTTTT	116	.	.	.	.	.	.	.	intronic	.	.	.	.	4
chr6	129371106	LAMA2	C	T	35	0.0706869	.	MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326	Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related	Benign/Likely_benign	0.1232	synonymous_SNV	exonic	.	0.1164	0.1162	0.1159	-1
chr6	129381026	LAMA2	C	A	222	0.936701	.	MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326	Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related	Benign	0.9705	synonymous_SNV	exonic	.	0.9699	0.9694	0.9723	-1
chr6	129419457	LAMA2	T	G	1	.	-0.699	.	.	.	.	nonsynonymous_SNV	exonic	T	.	.	.	2
chr6	129470136	LAMA2	G	A	1	0.000199681	6.036	MedGen:CN117977|MedGen:CN169374|MedGen:CN239326|MedGen:CN517202	Laminin_alpha_2-related_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related|not_provided	Conflicting_interpretations_of_pathogenicity	0.0015	nonsynonymous_SNV	exonic	T	0.0016	0.0015	0.0015	1
chr6	129511373	LAMA2	T	C	7	0.0565096	.	MedGen:CN117977|MedGen:CN169374|MedGen:CN239326	Laminin_alpha_2-related_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related	Benign/Likely_benign	0.0132	synonymous_SNV	exonic	.	0.0112	0.0120	0.0087	-1
chr6	129513837	LAMA2	A	G	1	0.000399361	2.056	MedGen:CN117977|MedGen:CN169374	Laminin_alpha_2-related_dystrophy|not_specified	Conflicting_interpretations_of_pathogenicity	0.0026	nonsynonymous_SNV	exonic	T	0.0036	0.0028	0.0026	0
chr6	129513850	LAMA2	T	A	2	0.00159744	5.154	MedGen:CN117977|MedGen:CN169374|MedGen:CN517202	Laminin_alpha_2-related_dystrophy|not_specified|not_provided	Benign/Likely_benign	0.0043	nonsynonymous_SNV	exonic	T	0.0070	0.0044	0.0056	1
chr6	129571272	LAMA2	G	A	5	0.00958466	6.614	MedGen:CN117977|MedGen:CN169374	Laminin_alpha_2-related_dystrophy|not_specified	Benign	0.0172	nonsynonymous_SNV	exonic	T	0.0206	0.0180	0.0169	0
chr6	129571330	LAMA2	G	A	31	0.270966	-0.271	MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326	Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related	Benign	0.1346	nonsynonymous_SNV	exonic	T	0.14	0.1358	0.1374	-1
chr6	129601231	LAMA2	C	T	2	0.00319489	5.122	MedGen:CN117977|MedGen:CN169374|MedGen:CN239326|MedGen:CN517202	Laminin_alpha_2-related_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related|not_provided	Conflicting_interpretations_of_pathogenicity	0.0062	nonsynonymous_SNV	exonic	T	0.0064	0.0060	0.0076	1
chr6	129612765	LAMA2	G	T	1	0.0463259	2.558	MedGen:CN117977|MedGen:CN169374|MedGen:CN239326	Laminin_alpha_2-related_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related	Benign/Likely_benign	0.0009	nonsynonymous_SNV	exonic	T	0.0010	0.0009	0.0007	-1
chr6	129612808	LAMA2	A	G	58	0.313898	.	MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326	Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related	Benign	0.2253	synonymous_SNV	exonic	.	0.2272	0.2253	0.2232	-1
chr6	129612840	LAMA2	A	G	1	.	2.039	MedGen:CN169374	not_specified	Uncertain_significance	6.028e-05	nonsynonymous_SNV	exonic	T	0.0002	8.057e-05	.	1
chr6	129634255	LAMA2	G	A	41	0.355232	.	MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326	Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related	Benign	0.1228	.	intronic	.	0.1241	0.1228	0.1187	-1
chr6	129635800	LAMA2	G	A	10	0.120008	2.722	MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326	Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related	Benign/Likely_benign	0.0415	nonsynonymous_SNV	exonic	T	0.0469	0.0427	0.0398	-1
chr6	129636606	LAMA2	T	G	5	0.0081869	.	MedGen:CN169374|MedGen:CN239326	not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related	Conflicting_interpretations_of_pathogenicity	0.0083	.	intronic	.	0.005	0.0071	0.0053	2
chr6	129636647	LAMA2	T	C	1	.	.	MedGen:CN169374	not_specified	Likely_benign	0.0010	synonymous_SNV	exonic	.	0.0005	0.0008	0.0005	0
chr6	129636948	LAMA2	C	T	1	.	.	.	.	.	3.001e-05	synonymous_SNV	exonic	.	.	2.687e-05	6.667e-05	2
chr6	129663463	LAMA2	ACTTCTTC	ACTTC	1	.	.	.	.	.	.	.	intronic	.	.	.	.	2
chr6	129670438	LAMA2	T	A	2	0.00279553	.	MedGen:CN117977|MedGen:CN169374|MedGen:CN517202	Laminin_alpha_2-related_dystrophy|not_specified|not_provided	Benign/Likely_benign	0.0083	.	intronic	.	0.0098	0.0083	0.0081	0
chr6	129670476	LAMA2	C	T	2	0.00299521	.	MedGen:CN117977|MedGen:CN169374	Laminin_alpha_2-related_dystrophy|not_specified	Benign	0.0081	synonymous_SNV	exonic	.	0.0095	0.0081	0.0079	0
chr6	129670548	LAMA2	C	T	15	0.0970447	.	MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374	Merosin_deficient_congenital_muscular_dystrophy|not_specified	Benign	0.0632	.	intronic	.	0.0613	0.0605	0.0544	-1
chr6	129674296	LAMA2	T	C	1	.	.	.	.	.	.	.	intronic	.	.	.	.	2
chr6	129674398	LAMA2	C	T	1	.	4.629	.	.	.	.	nonsynonymous_SNV	exonic	T	.	.	6.676e-05	2
chr6	129687396	LAMA2	G	A	6	0.0101837	2.753	MedGen:CN117977|MedGen:CN169374	Laminin_alpha_2-related_dystrophy|not_specified	Benign	0.0290	nonsynonymous_SNV	exonic	T	0.0330	0.0301	0.0282	-1
chr6	129691132	LAMA2	C	G	15	0.0966454	.	MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326	Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related	Benign/Likely_benign	0.0631	synonymous_SNV	exonic	.	0.0615	0.0602	0.0541	-1
chr6	129704290	LAMA2	C	T	1	.	.	.	.	.	3.062e-05	synonymous_SNV	exonic	.	.	4.515e-05	0	2
chr6	129704357	LAMA2	G	T	1	.	12.150	MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008	Merosin_deficient_congenital_muscular_dystrophy	Pathogenic	.	stopgain	exonic	.	.	.	.	6
chr6	129712706	LAMA2	G	C	1	.	2.070	.	.	.	.	nonsynonymous_SNV	exonic	T	.	0	.	2
chr6	129722389	LAMA2	A	G	114	0.544529	.	MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326	Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related	Benign	0.4678	synonymous_SNV	exonic	.	0.4653	0.4610	0.4523	-1
chr6	129722425	LAMA2	G	A	114	0.543331	.	MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326	Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related	Benign	0.4658	synonymous_SNV	exonic	.	0.4641	0.4592	0.4496	-1
chr6	129722453	LAMA2	C	A	1	0.00499201	2.879	Human_Phenotype_Ontology:HP:0002126,MedGen:C0266464,Orphanet:ORPHA35981|MedGen:CN117977|MedGen:CN169374|MedGen:CN517202	Polymicrogyria|Laminin_alpha_2-related_dystrophy|not_specified|not_provided	Conflicting_interpretations_of_pathogenicity	0.0171	nonsynonymous_SNV	exonic	T	0.0171	0.0184	0.0162	-1
chr6	129725008	LAMA2	A	G	1	0.000199681	.	MedGen:CN169374	not_specified	Likely_benign	0.0001	synonymous_SNV	exonic	.	0.0001	0.0002	.	1
chr6	129725073	LAMA2	C	G	1	.	7.032	.	.	.	.	nonsynonymous_SNV	exonic	T	.	.	.	3
chr6	129762112	LAMA2	G	A	33	0.182508	.	MedGen:CN169374|MedGen:CN239326	not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related	Benign/Likely_benign	0.1514	synonymous_SNV	exonic	.	0.1457	0.1544	0.1698	-1
chr6	129766983	LAMA2	G	A	1	.	.	.	.	.	3.065e-05	.	intronic	.	.	5.418e-05	0.0002	2
chr6	129785499	LAMA2	C	T	1	.	8.067	MedGen:CN117977|MedGen:CN239326	Laminin_alpha_2-related_dystrophy|Congenital_Muscular_Dystrophy,_LAMA2-related	Uncertain_significance	0.0001	nonsynonymous_SNV	exonic	T	0.0002	0.0001	0.0002	2
chr6	129785554	LAMA2	T	G	1	.	6.789	MedGen:CN169374	not_specified	Uncertain_significance	0.0002	nonsynonymous_SNV	exonic	T	.	0.0002	0.0001	2
chr6	129796620	LAMA2	C	T	109	0.408347	.	.	.	.	.	.	intronic	.	0.4104	.	0.3859	-1
chr6	129807629	LAMA2	C	T	170	0.583866	7.378	MedGen:CN169374	not_specified	Benign	0.7148	nonsynonymous_SNV	exonic	D	0.7265	0.7167	0.7152	1
chr6	129807699	LAMA2	G	C	170	0.584265	.	MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326	Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related	Benign	0.7149	synonymous_SNV	exonic	.	0.7266	0.7169	0.7153	-1
chr6	129807714	LAMA2	G	A	57	0.403754	.	MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326	Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related	Benign	0.2597	synonymous_SNV	exonic	.	0.2488	0.2591	0.2609	-1
chr6	129807744	LAMA2	C	T	1	0.000199681	.	.	.	.	1.499e-05	synonymous_SNV	exonic	.	.	8.982e-06	.	1
chr6	129813053	LAMA2	A	G	14	0.111621	2.164	MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326	Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related	Benign/Likely_benign	0.0759	nonsynonymous_SNV	exonic	T	0.0630	0.0674	0.0676	-1
chr6	129813175	LAMA2	T	C	3	0.0185703	.	MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN117977|MedGen:CN169374|MedGen:CN239326	Merosin_deficient_congenital_muscular_dystrophy|Laminin_alpha_2-related_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related	Benign/Likely_benign	0.0138	synonymous_SNV	exonic	.	0.0130	0.0144	0.0123	-1
chr6	129813508	LAMA2	T	A	2	0.0171725	.	MedGen:CN117977|MedGen:CN169374|MedGen:CN239326	Laminin_alpha_2-related_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related	Benign/Likely_benign	0.0005	synonymous_SNV	exonic	.	0.0005	0.0006	0.0005	-1
chr6	129826335	LAMA2	T	C	3	0.00359425	.	MedGen:CN117977|MedGen:CN169374	Laminin_alpha_2-related_dystrophy|not_specified	Benign	0.0135	.	intronic	.	0.0127	0.0139	0.0123	-1
chr6	129826383	LAMA2	T	C	1	0.000798722	.	MedGen:CN117977|MedGen:CN169374|MedGen:CN239326	Laminin_alpha_2-related_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related	Conflicting_interpretations_of_pathogenicity	0.0010	synonymous_SNV	exonic	.	0.0006	0.0011	0.0005	0
chr6	129833653	LAMA2	T	C	1	.	.	MedGen:CN517202	not_provided	Uncertain_significance	0.0005	.	intronic	.	0.0008	0.0002	6.672e-05	0
chr6	129837320	LAMA2	C	A	8	0.0091853	.	MedGen:CN169374	not_specified	Benign	0.0355	.	intronic	.	0.0415	0.0361	0.0334	-1
chr6	133767787	EYA4	C	T	1	0.00579073	.	MedGen:C1854368,OMIM:605362,Orphanet:ORPHA217622|MedGen:CN169374	Dilated_cardiomyopathy_1J|not_specified	Benign	7.493e-05	synonymous_SNV	exonic	.	.	7.166e-05	6.7e-05	-1
chr6	133767795	EYA4	T	C	1	0.00479233	.	MedGen:C1854368,OMIM:605362,Orphanet:ORPHA217622|MedGen:CN169374	Dilated_cardiomyopathy_1J|not_specified	Benign	2.997e-05	synonymous_SNV	exonic	.	.	6.269e-05	6.663e-05	-1
chr6	133777731	EYA4	C	T	1	.	.	.	.	.	1.498e-05	synonymous_SNV	exonic	.	.	8.961e-06	.	2
chr6	133782375	EYA4	T	A	15	0.201278	.	.	.	.	.	.	intronic	.	0.0669	.	0.0603	-1
chr6	133783625	EYA4	ATCTTCTG	ATCTG	1	0.058107	.	MedGen:CN169374|MedGen:CN239310|MedGen:CN239435	not_specified|Dilated_Cardiomyopathy,_Dominant|Nonsyndromic_Hearing_Loss,_Dominant	Benign/Likely_benign	0.0006	.	intronic	.	0.0177	0.0006	0.0003	-1.5
chr6	133789728	EYA4	G	A	79	0.409545	5.411	MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239435	not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Nonsyndromic_Hearing_Loss,_Dominant	Benign/Likely_benign	0.3197	nonsynonymous_SNV\x3bnonsynonymous_SNV	exonic\x3bexonic	T	0.3128	0.3223	0.3103	-1.5
chr6	133789728	EYA4	G	A	15	0.409545	5.411	MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239435	not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Nonsyndromic_Hearing_Loss,_Dominant	Benign/Likely_benign	0.3197	nonsynonymous_SNV\x3bnonsynonymous_SNV	exonic\x3bexonic	T	0.3128	0.3223	0.3103	-1.5
chr6	133827354	TARID	A	G	136	0.722244	.	.	.	.	0.5672	.	ncRNA_exonic	.	0.5607	0.5633	0.5620	-1
chr6	133836430	TARID	G	A	3	0.00539137	.	.	.	.	0.0165	.	ncRNA_intronic	.	0.0164	0.0174	0.0140	-1
chr6	133849868	EYA4	C	T	3	0.0081869	.	Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1854368,OMIM:605362,Orphanet:ORPHA217622|MedGen:CN169374|MedGen:CN230736	Cardiomyopathy|Dilated_cardiomyopathy_1J|not_specified|Cardiovascular_phenotype	Benign	0.0143	synonymous_SNV	exonic	.	0.0128	0.0124	0.0107	-2
chr6	133849966	TARID	C	T	85	0.471046	.	MedGen:CN239310|MedGen:CN239435	Dilated_Cardiomyopathy,_Dominant|Nonsyndromic_Hearing_Loss,_Dominant	Likely_benign	0.3777	.	ncRNA_intronic	.	0.3865	0.3807	0.3957	-1.5
chr6	152443744	SYNE1	G	T	16	0.076877	4.671	Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374	Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified	Benign	0.1516	nonsynonymous_SNV	exonic	T	0.1398	0.1501	0.1644	-1
chr6	152443753	SYNE1	G	A	2	0.000199681	5.591	Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374	Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified	Likely_benign	0.0006	nonsynonymous_SNV	exonic	T	0.0007	0.0002	0	1
chr6	152443756	SYNE1	C	T	1	0.033147	-0.740	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	Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified	Benign	0.0031	nonsynonymous_SNV	exonic	T	0.0014	0.0016	0.0047	-1
chr6	152443761	SYNE1	C	T,A	1	.	2.009	.	.	.	0.0001	nonsynonymous_SNV	exonic	T	.	1.793e-05	6.669e-05	2
chr6	152453291	SYNE1	G	A	13	0.0257588	1.797	Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374	Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified	Benign	0.0739	nonsynonymous_SNV	exonic	T	0.0745	0.0769	0.0768	-1
chr6	152456276	SYNE1	T	G	2	0.000199681	6.670	MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:CN169374	Spinocerebellar_ataxia,_autosomal_recessive_8|not_specified	Uncertain_significance	0.0007	nonsynonymous_SNV	exonic	T	0.0008	0.0009	0.0008	1
chr6	152457783	SYNE1	G	A	1	0.000199681	.	MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374	Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified	Likely_benign	6.072e-05	synonymous_SNV	exonic	.	0.0001	5.467e-05	0	1
chr6	152461140	SYNE1	C	T	1	.	1.255	MedGen:CN169374	not_specified	Uncertain_significance	0.0002	nonsynonymous_SNV	exonic	T	0.0001	0.0002	0.0002	1
chr6	152462480	SYNE1	C	A	7	0.00559105	.	MedGen:CN169374	not_specified	Benign	0.0096	.	intronic	.	0.0097	0.0091	0.0057	2
chr6	152464786	SYNE1	G	A	1	0.000199681	7.591	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	Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified	Likely_benign	0.0027	nonsynonymous_SNV	exonic	T	0.0034	0.0027	0.0019	1
chr6	152464839	SYNE1	A	G	119	0.689696	.	Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374	Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified	Benign	0.5481	synonymous_SNV	exonic	.	0.5564	0.5516	0.5468	-1
chr6	152466674	SYNE1	T	C	83	0.366214	.	Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374	Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified	Benign	0.3171	synonymous_SNV	exonic	.	0.3301	0.3201	0.3112	-1
chr6	152466728	SYNE1	C	G	1	.	.	.	.	.	.	.	intronic	.	.	.	.	2
chr6	152469188	SYNE1	C	G	85	0.399361	0.755	Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374	Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified	Benign	0.3230	nonsynonymous_SNV	exonic	T	0.3373	0.3248	0.3163	-1
chr6	152469331	SYNE1	C	T	63	0.339457	.	Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374	Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified	Benign	0.2768	synonymous_SNV	exonic	.	0.2944	0.2810	0.2778	-1
chr6	152470752	SYNE1	C	A	30	0.115615	2.796	Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374	Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified	Benign	0.0561	nonsynonymous_SNV	exonic	T	0.0548	0.0534	0.0441	-1
chr6	152473181	SYNE1	T	C	22	0.0365415	.	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	Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified	Benign/Likely_benign	0.0470	synonymous_SNV	exonic	.	0.0441	0.0439	0.0386	-1
chr6	152477054	SYNE1	C	T	1	.	7.558	MedGen:CN169374	not_specified	Uncertain_significance	1.499e-05	nonsynonymous_SNV	exonic	D	.	3.583e-05	.	4
chr6	152501416	SYNE1	C	T	2	0.00119808	4.749	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	Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified|not_provided	Likely_benign	0.0060	nonsynonymous_SNV	exonic	T	0.0055	0.0063	0.0060	0
chr6	152510429	SYNE1	G	A	3	0.00119808	.	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	Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified	Likely_benign	0.0022	synonymous_SNV	exonic	.	0.0023	0.0019	0.0015	1
chr6	152523087	MIR3163	A	G	1	.	.	.	.	.	.	.	ncRNA_intronic	.	.	.	.	2
chr6	152529122	SYNE1	G	A	3	0.00339457	.	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	Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified	Benign/Likely_benign	0.0170	synonymous_SNV	exonic	.	0.0177	0.0177	0.0191	-1
chr6	152529260	SYNE1	G	A	51	0.155152	.	Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374	Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified	Benign	0.1315	synonymous_SNV	exonic	.	0.1341	0.1321	0.1210	-1
chr6	152532702	SYNE1	T	C	3	0.00459265	6.017	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	Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified	Benign/Likely_benign	0.0205	nonsynonymous_SNV	exonic	T	0.0171	0.0195	0.0139	0
chr6	152534768	SYNE1	C	T	5	0.0205671	.	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	Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified	Benign/Likely_benign	0.0328	synonymous_SNV	exonic	.	0.0271	0.0320	0.0266	-1
chr6	152534789	SYNE1	T	C	2	0.0135783	.	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	Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified	Benign	0.0347	synonymous_SNV	exonic	.	0.0302	0.0339	0.0432	-1
chr6	152539446	SYNE1	G	A	1	0.000998403	.	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	Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified	Benign/Likely_benign	0.0003	synonymous_SNV	exonic	.	0.0002	0.0002	0.0001	0
chr6	152540147	SYNE1	A	C	1	.	.	MedGen:CN169374	not_specified	Uncertain_significance	7.493e-05	synonymous_SNV	exonic	.	.	9.87e-05	6.66e-05	2
chr6	152540230	SYNE1	C	T	1	0.000199681	3.652	Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374	Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified	Conflicting_interpretations_of_pathogenicity	0.0001	nonsynonymous_SNV	exonic	T	0.0001	0.0001	6.662e-05	1
chr6	152540278	SYNE1	A	C	223	0.995607	-0.224	Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374	Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified	Benign/Likely_benign	0.9886	nonsynonymous_SNV	exonic	T	0.9901	0.9878	0.9892	-1
chr6	152542548	MIR3163	A	G	37	0.337859	.	Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374	Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified	Benign	0.2204	.	ncRNA_intronic	.	0.2248	0.2135	0.2303	-1
chr6	152545665	SYNE1	G	A	1	0.000199681	.	MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374	Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified	Likely_benign	0.0023	synonymous_SNV	exonic	.	0.0022	0.0019	0.0020	0
chr6	152554928	SYNE1	C	G	1	.	4.407	.	.	.	.	nonsynonymous_SNV	exonic	T	.	.	.	2
chr6	152555057	SYNE1	T	A	11	0.00978435	.	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	Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified	Benign/Likely_benign	0.0259	synonymous_SNV	exonic	.	0.0259	0.0249	0.0260	-1
chr6	152555072	SYNE1	T	C	1	.	.	.	.	.	3.009e-05	synonymous_SNV	exonic	.	.	1.793e-05	.	2
chr6	152555112	SYNE1	C	T	59	0.208866	.	Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374	Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified	Benign	0.2231	.	intronic	.	0.2167	0.2160	0.2297	-1
chr6	152557936	SYNE1	G	A	1	0.00479233	.	MedGen:CN169374	not_specified	Likely_benign	0.0002	.	intronic	.	0.0001	0.0001	6.662e-05	0
chr6	152560744	SYNE1	G	A	1	0.00419329	1.700	MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374	Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified	Benign/Likely_benign	0.0001	nonsynonymous_SNV	exonic	T	0.0001	6.271e-05	0	0
chr6	152563590	SYNE1	C	T	1	0.000199681	.	Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374	Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified	Likely_benign	0.0002	.	intronic	.	.	0.0002	6.665e-05	1
chr6	152565669	SYNE1	C	T	1	0.00439297	.	Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374	Cerebellar_ataxia|Abnormality_of_brain_morphology|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified	Conflicting_interpretations_of_pathogenicity	0.0007	.	intronic	.	0.0007	0.0008	0.0005	0
chr6	152565803	SYNE1	C	G	1	0.000199681	.	MedGen:CN169374	not_specified	Likely_benign	2.997e-05	.	intronic	.	.	7.164e-05	0	1
chr6	152570274	SYNE1	A	G	24	0.0607029	.	.	.	.	0.0782	.	intronic	.	0.0780	0.0786	0.0692	-1
chr6	152570415	SYNE1	G	A	120	0.680711	.	MedGen:CN169374	not_specified	Benign	0.6208	.	intronic	.	0.6098	0.6133	0.6467	-1
chr6	152577752	SYNE1	T	C	22	0.0764776	.	MedGen:CN169374	not_specified	Benign	0.0622	.	intronic	.	0.0598	0.0592	0.0500	-1
chr6	152589193	SYNE1	A	G	1	.	.	MedGen:CN169374	not_specified	Likely_benign	.	synonymous_SNV	exonic	.	.	0	0	2
chr6	152615200	SYNE1	G	A	42	0.147764	.	Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374	Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified	Benign	0.1932	synonymous_SNV	exonic	.	0.1917	0.1932	0.1927	-1
chr6	152621881	SYNE1	C	T	1	.	.	.	.	.	0	synonymous_SNV	exonic	.	.	0	0	2
chr6	152629617	SYNE1	C	T	71	0.304313	.	Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374	Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified	Benign	0.3227	.	intronic\x3bintronic	.	0.3235	0.3209	0.3338	-1
chr6	152629617	SYNE1	C	T	10	0.304313	.	Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374	Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified	Benign	0.3227	.	intronic\x3bintronic	.	0.3235	0.3209	0.3338	-1
chr6	152629631	SYNE1	C	T	6	0.038139	6.154	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	Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified	Benign/Likely_benign	0.0080	nonsynonymous_SNV\x3bnonsynonymous_SNV	exonic\x3bexonic	T	0.0071	0.0066	0.0075	-1
chr6	152629631	SYNE1	C	T	2	0.038139	6.154	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	Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified	Benign/Likely_benign	0.0080	nonsynonymous_SNV\x3bnonsynonymous_SNV	exonic\x3bexonic	T	0.0071	0.0066	0.0075	-1
chr6	152629769	SYNE1	TTTGAAAAAAAAAAAAAACAGAAAGATAGAC	TTTTAAAAAAAAAAAAAACAGAAAGATAGAC,TTTTAAAAAAAAAAAAACAGAAAGATAGAC	2	.	.	.	.	.	.	.	intronic\x3bintronic\x3bintronic\x3bintronic	.	.	.	.	2
chr6	152629771	SYNE1	TGAAAAAAAAAAAAAACAGAAAGATAGAC	TTAAAAAAAAAAAAACAGAAAGATAGAC,TTAAAAAAAAAAAAAACAGAAAGATAGAC,TGAAAAAAAAAAAAACAGAAAGATAGAC	2	0.426518	.	MedGen:CN169374	not_specified	Benign	0.4072	.	intronic\x3bintronic\x3bintronic	.	.	0.4011	0.4450	-1
chr6	152629771	SYNE1	TGAAAAAAAAAAAAAACAGAAAGATAGAC	TTAAAAAAAAAAAAAACAGAAAGATAGAC,TTAAAAAAAAAAAAACAGAAAGATAGAC,TGAAAAAAAAAAAAACAGAAAGATAGAC	2	0.426518	.	MedGen:CN169374	not_specified	Benign	0.4072	.	intronic\x3bintronic\x3bintronic	.	.	0.4011	0.4450	-1
chr6	152629772	SYNE1	GAAAAAAAAAAAAAAC	GAAAAAAAAAAAAAC,TAAAAAAAAAAAAAAC	2	.	.	MedGen:CN169374	not_specified	Uncertain_significance	.	.	intronic\x3bintronic\x3bintronic\x3bintronic\x3bintronic	.	.	.	.	2
chr6	152631566	SYNE1	G	A	1	.	7.635	Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374	Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified	Conflicting_interpretations_of_pathogenicity	0.0010	nonsynonymous_SNV	exonic	T	.	0.0010	0.0007	1
chr6	152631802	SYNE1	CTTTTTTTTTTCTTTTTTTACCTTAG	CTTTTTTTTTTTCTTTTTTTACCTTAG,CTTTTTTTTTTATTTTTTTACCTTAG	1	.	.	.	.	.	1.706e-05	.	intronic	.	.	9.861e-06	.	2
chr6	152631869	SYNE1	C	T	1	0.000199681	0.473	MedGen:CN169374	not_specified	Uncertain_significance	3.002e-05	nonsynonymous_SNV	exonic	T	.	2.686e-05	6.698e-05	1
chr6	152639250	SYNE1	C	T	1	0.000599042	2.254	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	Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified	Likely_benign	0.0003	nonsynonymous_SNV	exonic	T	0.0003	0.0002	6.66e-05	0
chr6	152640110	SYNE1	G	A	2	0.0463259	2.539	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	Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified	Benign	0.0289	nonsynonymous_SNV	exonic	T	0.0272	0.0292	0.0336	-1
chr6	152646279	SYNE1	G	C	4	0.0623003	.	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	Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified	Benign	0.0298	synonymous_SNV	exonic	.	0.0280	0.0305	0.0334	-1
chr6	152647652	SYNE1	G	A	1	.	.	.	.	.	7.493e-05	synonymous_SNV	exonic	.	.	4.476e-05	6.659e-05	2
chr6	152647681	SYNE1	A	T	158	0.814696	1.978	Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374	Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified	Benign	0.7581	nonsynonymous_SNV	exonic	T	0.7494	0.7562	0.7754	-1
chr6	152650903	SYNE1	G	A	8	0.033746	.	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	Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified	Benign/Likely_benign	0.0386	synonymous_SNV	exonic	.	0.0436	0.0396	0.0382	-1
chr6	152651440	SYNE1	G	A	1	0.000199681	.	Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374	Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified	Conflicting_interpretations_of_pathogenicity	0.0002	synonymous_SNV	exonic	.	0.0001	0.0002	0.0003	1
chr6	152651759	SYNE1	C	G	18	0.165136	.	Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374	Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified	Benign	0.0592	synonymous_SNV	exonic	.	0.0621	0.0600	0.0639	-1
chr6	152651971	SYNE1	T	G	2	.	4.654	MedGen:CN169374	not_specified	Uncertain_significance	0.0002	nonsynonymous_SNV	exonic	T	.	0.0002	6.66e-05	1
chr6	152652034	SYNE1	A	T	158	0.803315	-5.477	Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374	Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified	Benign	0.7577	nonsynonymous_SNV	exonic	T	0.7490	0.7561	0.7745	-1
chr6	152652599	SYNE1	G	A	8	0.0335463	.	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	Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified	Benign/Likely_benign	0.0388	synonymous_SNV	exonic	.	0.0437	0.0397	0.0385	-1
chr6	152652867	SYNE1	G	A	1	.	5.577	.	.	.	0.0003	nonsynonymous_SNV	exonic	T	.	0.0002	0	2
chr6	152653037	SYNE1	T	C	102	0.413139	.	Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374	Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified	Benign	0.4696	.	intronic	.	0.4607	0.4617	0.4722	-1
chr6	152655330	SYNE1	C	T	1	0.0325479	1.804	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	Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified	Benign	0.0002	nonsynonymous_SNV	exonic	T	.	0.0002	0.0002	-1
chr6	152658062	SYNE1	C	G	7	0.0123802	6.665	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	Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified	Benign/Likely_benign	0.0358	nonsynonymous_SNV	exonic	T	0.0326	0.0357	0.0318	0
chr6	152658141	SYNE1	CT	AC,CC	7	.	.	.	.	.	.	frameshift_deletion	exonic	.	.	.	.	4
chr6	152658142	SYNE1	T	C	129	0.793131	0.371	Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374	Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified	Benign	0.7478	nonsynonymous_SNV	exonic	T	0.7194	0.7459	0.7642	-1
chr6	152660451	SYNE1	G	A	23	0.0732827	.	Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374	Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified	Benign	0.1418	synonymous_SNV	exonic	.	0.1315	0.1438	0.1464	-1
chr6	152665261	SYNE1	C	A	146	0.545527	0.235	Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374	Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified	Benign	0.6031	nonsynonymous_SNV	exonic	T	0.6178	0.6078	0.6094	-1
chr6	152668211	SYNE1	A	G	3	0.00539137	6.385	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	Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified	Benign/Likely_benign	0.0170	nonsynonymous_SNV	exonic	T	0.0151	0.0161	0.0147	0
chr6	152668215	SYNE1	C	T	3	0.00479233	.	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	Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified	Benign/Likely_benign	0.0133	synonymous_SNV	exonic	.	0.0130	0.0133	0.0113	-1
chr6	152668272	SYNE1	C	T	1	0.00239617	.	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	Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified	Benign/Likely_benign	0.0076	synonymous_SNV	exonic	.	0.0080	0.0077	0.0079	0
chr6	152671384	SYNE1	C	G	1	.	2.098	.	.	.	7.492e-05	nonsynonymous_SNV	exonic	T	0.0001	9.849e-05	0	2
chr6	152671475	SYNE1	A	C	148	0.58746	.	MedGen:CN169374	not_specified	Benign	0.6003	.	intronic	.	0.6098	0.6049	0.6074	-1
chr6	152671865	SYNE1	T	G	6	0.0543131	2.231	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	Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified	Benign	0.0189	nonsynonymous_SNV	exonic	T	0.0201	0.0191	0.0181	-1
chr6	152671919	SYNE1	GAAAAAAAAATGAGC	GAAAAAAAAAATGAGC,TAAAAAAAAATGAGC	6	.	.	.	.	.	.	.	intronic	.	.	.	.	4
chr6	152673147	SYNE1	G	A	149	0.565895	.	Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374	Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified	Benign	0.6003	.	intronic	.	0.6134	0.6040	0.6083	-1
chr6	152674524	SYNE1	T	C	1	0.000399361	.	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	Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified	Conflicting_interpretations_of_pathogenicity	0.0014	synonymous_SNV	exonic	.	0.0014	0.0015	0.0024	0
chr6	152675854	SYNE1	A	G	150	0.568291	.	Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374	Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified	Benign	0.6001	synonymous_SNV\x3bsynonymous_SNV	exonic\x3bexonic	.	0.6133	0.6049	0.6074	-1
chr6	152675854	SYNE1	A	G	25	0.568291	.	Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374	Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified	Benign	0.6001	synonymous_SNV\x3bsynonymous_SNV	exonic\x3bexonic	.	0.6133	0.6049	0.6074	-1
chr6	152679518	SYNE1	C	T	2	0.0071885	3.946	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	Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified	Benign/Likely_benign	0.0156	nonsynonymous_SNV	exonic	T	0.02	0.0165	0.0131	-1
chr6	152679594	SYNE1	A	G	8	0.00459265	.	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	Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified	Benign/Likely_benign	0.0159	synonymous_SNV	exonic	.	0.0176	0.0144	0.0133	-1
chr6	152683413	SYNE1	G	T	167	0.659145	.	Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374	Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified	Benign	0.6652	synonymous_SNV	exonic	.	0.6806	0.6701	0.6773	-1
chr6	152685970	SYNE1	A	G	1	0.0547125	.	Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374	Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified	Benign	0.0003	.	intronic	.	0.0007	0.0003	0.0003	-1
chr6	152686071	SYNE1	A	G	1	0.00199681	.	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	Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified|not_provided	Conflicting_interpretations_of_pathogenicity	0.0065	synonymous_SNV	exonic	.	0.0064	0.0062	0.0056	0
chr6	152686090	SYNE1	G	T	1	0.00199681	2.251	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	Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified|not_provided	Conflicting_interpretations_of_pathogenicity	0.0065	nonsynonymous_SNV	exonic	T	0.0064	0.0062	0.0057	0
chr6	152690594	SYNE1	C	T	1	0.00119808	.	Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004	Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy	Likely_benign	0.0003	.	intronic	.	0.0003	0.0002	6.673e-05	0
chr6	152694184	SYNE1	T	C	125	0.468251	.	Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374	Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified	Benign	0.5328	synonymous_SNV	exonic	.	0.5458	0.5394	0.5421	-1
chr6	152694190	SYNE1	T	C	2	0.000599042	.	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	Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified	Benign/Likely_benign	0.0020	synonymous_SNV	exonic	.	0.0015	0.0016	0.0015	0
chr6	152694297	SYNE1	C	T	1	.	4.747	.	.	.	.	nonsynonymous_SNV	exonic	T	.	0	.	2
chr6	152697692	SYNE1	G	C	1	0.00119808	5.603	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	Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified	Likely_benign	0.0023	nonsynonymous_SNV	exonic	T	0.0031	0.0030	0.0025	1
chr6	152697706	SYNE1	C	T	107	0.529153	.	Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374	Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified	Benign	0.4739	.	intronic	.	0.4606	0.4658	0.4662	-1
chr6	152706868	SYNE1	G	A	1	.	7.515	.	.	.	2.997e-05	nonsynonymous_SNV	exonic	T	.	2.689e-05	6.668e-05	3
chr6	152708293	SYNE1	A	G	1	.	2.133	.	.	.	.	nonsynonymous_SNV	exonic	T	.	.	.	2
chr6	152708310	SYNE1	G	A	52	0.249002	0.486	Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374	Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified	Benign	0.2229	nonsynonymous_SNV	exonic	T	0.2190	0.2241	0.2138	-1
chr6	152711406	SYNE1	G	A	2	0.0996406	.	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	Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified	Benign	0.0010	.	intronic	.	0.0015	0.0011	0.0008	-1
chr6	152711428	SYNE1	C	T	1	0.00319489	-0.289	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	Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified|not_provided	Benign/Likely_benign	0.0090	nonsynonymous_SNV	exonic	T	0.0098	0.0085	0.0113	0
chr6	152711429	SYNE1	G	A	2	0.0571086	.	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	Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified	Benign	0.0007	synonymous_SNV	exonic	.	0.0010	0.0007	0.0004	-1
chr6	152712705	SYNE1	TG	TT	2	.	.	.	.	.	.	.	intronic	.	.	.	.	2
chr6	152712706	SYNE1	G	T	15	.	.	.	.	.	.	.	intronic	.	.	.	.	4
chr6	152712714	SYNE1	GG	TG,AA,AG	15	0.169728	.	Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374	Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified	Benign	0.0012	.	intronic	.	.	0.0046	0.0009	-1
chr6	152712715	SYNE1	GAAAAAAAAAAAAAAGAAAAAAAATTAATTCT	AAAAAAAAAAAAAAAGAAAAAAAATTAATTCT,TAAAAAAAAAAAAAAGAAAAAAAATTAATTCT,CAAAAAAAAAAAAAAGAAAAAAAATTAATTCT,GAAAAAAAAAAAAAGAAAAAAAATTAATTCT	15	.	.	.	.	.	0.2474	.	intronic	.	.	.	0.0032	-1
chr6	152717896	SYNE1	T	C	13	0.014377	.	Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374	Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified	Benign/Likely_benign	0.0362	.	intronic	.	0.0336	0.0377	0.0336	-1
chr6	152722303	SYNE1	A	G	1	.	.	.	.	.	.	synonymous_SNV	exonic	.	.	.	.	2
chr6	152725470	SYNE1	TAACTAA	TA	1	.	.	.	.	.	.	.	intronic	.	.	.	.	2
chr6	152730273	SYNE1	T	C	1	0.0217652	0.551	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	Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified	Benign	0.0007	nonsynonymous_SNV	exonic	T	0.0009	0.0007	0.0006	-1
chr6	152730736	SYNE1	A	G	1	0.000998403	.	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	Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified	Likely_benign	0.0023	synonymous_SNV	exonic	.	0.0026	0.0024	0.0016	0
chr6	152740681	SYNE1	TAAAAAAAAAAAAAC	TAAAAAAAAAAAAAAC	8	0.35024	.	.	.	.	0.3240	.	intronic	.	0.2008	0.3715	0.2080	-1
chr6	152746593	SYNE1	A	T	11	0.0327476	-0.505	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	Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified	Benign/Likely_benign	0.0553	nonsynonymous_SNV	exonic	T	0.0516	0.0539	0.0622	-1
chr6	152746682	SYNE1	C	A	1	0.000998403	2.163	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	Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified	Conflicting_interpretations_of_pathogenicity	0.0040	nonsynonymous_SNV	exonic	T	0.0044	0.0041	0.0042	0
chr6	152749370	SYNE1	G	T	1	.	-1.224	.	.	.	.	nonsynonymous_SNV	exonic	T	.	.	.	2
chr6	152749540	SYNE1	C	T	1	0.00239617	.	Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374	Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified	Benign/Likely_benign	0.0077	.	intronic	.	0.0083	0.0073	0.0097	0
chr6	152751218	SYNE1	ATAGTAGA	ATAGA	32	.	.	MedGen:CN169374	not_specified	Likely_benign	0.1868	.	intronic	.	0.1354	0.1288	0.1291	-1
chr6	152751241	SYNE1	T	A	1	.	.	.	.	.	.	.	intronic	.	.	1.07e-05	.	2
chr6	152757224	SYNE1	G	A	3	0.00239617	6.572	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	Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified	Likely_benign	0.0041	nonsynonymous_SNV	exonic	D	0.0057	0.0043	0.0041	3
chr6	152763258	SYNE1	T	C	8	0.0127796	.	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	Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified	Benign/Likely_benign	0.0227	synonymous_SNV	exonic	.	0.0184	0.0203	0.0275	-1
chr6	152765579	SYNE1	C	T	2	0.00678914	.	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	Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified	Benign/Likely_benign	0.0132	synonymous_SNV	exonic	.	0.0124	0.0135	0.0130	-1
chr6	152765725	SYNE1	TGAAAAAAAAAAACACGT	TTAAAAAAAAAAACACGT,TGAAAAAAAAAACACGT	2	.	.	Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004	Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy	Uncertain_significance	0.2367	.	intronic\x3bintronic	.	0.1587	0.1741	0.0478	-1
chr6	152765726	SYNE1	GAAAAAAAAAAAC	TAAAAAAAAAAAC,GAAAAAAAAAAC	2	.	.	Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004	Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy	Uncertain_significance	0.2367	.	intronic\x3bintronic	.	0.1587	0.1741	0.0478	-1
chr6	152768761	SYNE1	A	G	1	.	.	.	.	.	.	.	intronic	.	.	.	.	2
chr6	152770645	SYNE1	G	A	12	0.0185703	.	.	.	.	0.0360	.	intronic	.	0.0345	0.0326	0.0394	-1
chr6	152771849	SYNE1	G	A	15	0.048722	.	Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374	Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified	Benign	0.0687	synonymous_SNV	exonic	.	0.0680	0.0663	0.0729	-1
chr6	152772264	SYNE1	A	G	99	0.607228	3.767	Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374	Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified	Benign	0.4291	nonsynonymous_SNV	exonic	D	0.4295	0.4232	0.4198	0
chr6	152776744	SYNE1	C	G	1	.	-0.078	.	.	.	.	.	intronic	T	.	0	.	2
chr6	152777095	SYNE1	A	C	15	0.0433307	0.696	Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374	Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified	Benign	0.0687	nonsynonymous_SNV	exonic	T	0.0679	0.0664	0.0734	-1
chr6	152777118	SYNE1	T	C	1	.	2.468	MedGen:CN169374	not_specified	Uncertain_significance	0.0002	nonsynonymous_SNV	exonic	T	0.0002	0.0002	0.0002	1
chr6	152779933	SYNE1	G	A	12	0.0115815	4.640	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	Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified	Benign/Likely_benign	0.0333	nonsynonymous_SNV	exonic	T	0.0312	0.0339	0.0313	-1
chr6	152784571	SYNE1	CAC	CC	1	.	.	.	.	.	.	frameshift_deletion	exonic	.	.	.	.	2
chr6	152784621	SYNE1	T	C	1	0.00399361	4.526	.	.	.	0.0085	nonsynonymous_SNV	exonic	T	0.0080	0.0078	0.0087	0
chr6	152786447	SYNE1	T	C	1	0.00139776	.	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	Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified	Benign/Likely_benign	0.0084	synonymous_SNV	exonic	.	0.0080	0.0091	0.0069	0
chr6	152787211	SYNE1	A	G	1	.	.	.	.	.	1.535e-05	synonymous_SNV	exonic	.	.	9.009e-06	.	2
chr6	152793412	SYNE1	C	A	171	0.855232	.	MedGen:CN169374	not_specified	Benign	0.7166	.	intronic	.	0.7044	0.7070	0.7065	-1
chr6	152793571	SYNE1	ATAAA	AAAAG,ATAAG	171	.	.	.	.	.	.	.	intronic\x3bintronic\x3bintronic	.	.	.	.	4
chr6	152793572	SYNE1	TAAA	AAAG,TAAG,AAAA	171	0.483427	.	MedGen:CN169374	not_specified	Benign	0.3388	.	intronic	.	0.0162	0.3152	0.3368	-1
chr6	152793573	SYNE1	AAA	AAG	1	.	.	.	.	.	.	.	intronic\x3bintronic\x3bintronic	.	.	.	.	2
chr6	152793575	SYNE1	A	G	10	0.602236	.	MedGen:CN169374	not_specified	Benign	0.4256	.	intronic	.	0.1459	0.4045	0.4136	-1
chr6	152809527	SYNE1	A	T	99	0.589257	.	Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374	Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified	Benign	0.4370	.	intronic	.	0.4328	0.4257	0.4250	-1
chr6	152832652	SYNE1	GTT	GT	1	.	.	.	.	.	.	.	intronic	.	.	.	.	2
chr6	152832708	SYNE1	G	T	1	.	2.668	.	.	.	.	nonsynonymous_SNV	exonic	D	.	.	.	3
chr6	152832770	SYNE1	T	A	2	.	.	.	.	.	1.505e-05	.	intronic	.	.	1.801e-05	.	2
chr6	152847284	SYNE1	A	G	1	0.00279553	.	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	Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified	Benign/Likely_benign	0.0119	synonymous_SNV	exonic	.	0.0114	0.0112	0.0117	-1
chr6	152847335	SYNE1	G	A	79	0.264177	.	MedGen:CN169374	not_specified	Benign	0.3249	.	intronic	.	0.3233	0.3243	0.3317	-1
chr6	152861065	SYNE1	A	G	1	0.000199681	.	.	.	.	7.493e-05	.	intronic	.	.	6.272e-05	0	1
chr7	35271254	TBX20	T	C	61	0.0888578	.	.	.	.	.	.	intronic	.	0.1782	.	0.1482	-1
chr7	35280539	TBX20	G	T	1	0.0305511	.	MedGen:CN230736	Cardiovascular_phenotype	Benign	0.0005	synonymous_SNV	exonic	.	0.0006	0.0005	0.0008	-1
chr7	35288276	TBX20	T	C	81	0.34365	.	.	.	.	0.3817	.	intronic	.	0.3907	0.3819	0.3924	-1
chr7	35288326	TBX20	G	A	1	.	.	.	.	.	1.505e-05	synonymous_SNV	exonic	.	.	8.979e-06	.	2
chr7	35293193	TBX20	A	G	169	0.69389	.	MedGen:C1969657,OMIM:611363|MedGen:CN230736	Atrial_septal_defect_4|Cardiovascular_phenotype	Benign	0.6791	synonymous_SNV	exonic	.	0.6892	0.6824	0.6756	-1
chr7	81579832	CACNA2D1	TAAAAAAAAAAGAAAAGAACAGAAAAAGAAAAATC	TAAAAAAAAAAAGAAAAGAACAGAAAAAGAAAAATC,TAAAAAAAAAGAAAAGAACAGAAAAAGAAAAATC	169	.	.	.	.	.	0.0177	.	intronic	.	0.0097	0.0076	0.0003	-1
chr7	81588609	CACNA2D1	G	A	1	.	.	.	.	.	.	synonymous_SNV	exonic	.	.	.	.	2
chr7	81588636	CACNA2D1	G	A	83	0.222644	.	MedGen:CN169374|MedGen:CN230736	not_specified|Cardiovascular_phenotype	Benign	0.3047	synonymous_SNV	exonic	.	0.3153	0.3061	0.3054	-1
chr7	81591716	CACNA2D1	T	G	82	0.230232	.	.	.	.	0.3482	.	intronic	.	0.3168	0.3118	0.3041	-1
chr7	81593454	CACNA2D1	G	A	51	0.257987	.	.	.	.	0.2096	.	intronic	.	0.2076	0.2123	0.1978	-1
chr7	81600060	CACNA2D1	C	G	1	.	.	.	.	.	.	.	intronic	.	.	.	.	2
chr7	81600125	CACNA2D1	T	C	1	0.00159744	.	.	.	.	.	.	intronic	.	.	.	0.0001	0
chr7	81603841	CACNA2D1	C	T	1	0.000399361	.	MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736	Brugada_syndrome|not_specified|Cardiovascular_phenotype	Benign/Likely_benign	0.0034	synonymous_SNV	exonic	.	0.0020	0.0028	0.0058	0
chr7	81603871	CACNA2D1	GAAAAAAAAAC	GAAAAAAAAAAAC	8	0.096845	.	MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736	Brugada_syndrome|not_specified|Cardiovascular_phenotype	Benign/Likely_benign	0.1140	.	intronic	.	0.0922	0.0903	0.0838	-1
chr7	81620630	CACNA2D1	C	T	1	.	.	.	.	.	.	.	intronic	.	.	.	.	2
chr7	81626637	CACNA2D1	C	T,A	1	.	.	.	.	.	.	.	intronic	.	.	.	.	2
chr7	81634821	CACNA2D1	AGAAAAAAAAAAAAAAGCTT	ATAAAAAAAAAAAAAAGCTT,AGAAAAAAAAAAAAAGCTT,ACAAAAAAAAAAAAAAGCTT,ATAAAAAAAAAAAAAGCTT,AGAAAAAAAAAAAAAAGATT	1	.	.	.	.	.	.	.	intronic	.	.	.	.	2
chr7	81634822	CACNA2D1	GAAAAAAAAAAAAAAGCTT	TAAAAAAAAAAAAAAGCTT,GAAAAAAAAAAAAAGCTT	1	0.20028	.	MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374	Brugada_syndrome|not_specified	Benign	0.3124	.	intronic\x3bintronic	.	.	0.2613	0.0468	-1
chr7	81635170	CACNA2D1	CAAAAAATG	CAAAAATG	1	0.0289537	.	MedGen:CN169374	not_specified	Benign	0.0020	.	intronic	.	0.0013	0.0013	0.0018	-1
chr7	81641500	CACNA2D1	G	A	2	0.00319489	.	MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736	Brugada_syndrome|not_specified|Cardiovascular_phenotype	Benign	0.0122	synonymous_SNV	exonic	.	0.0083	0.0109	0.0135	-1
chr7	81641553	CACNA2D1	A	G	1	0.0223642	.	MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736	Brugada_syndrome|not_specified|Cardiovascular_phenotype	Benign	0.0005	synonymous_SNV	exonic	.	0.0006	0.0006	0.0004	-1
chr7	81641570	LOC101927356	GAAAAAAAAAAAAAGTCG	GAAAAAAAAAAAAGTCG,TAAAAAAAAAAAAAAAAAGTCG,GAAAAAAAAAAAAAAAAAGTCG,GAAAAAAAAAAAAAAGTCG,GAAAAAAAAAAAGTCG	1	.	.	.	.	.	.	.	ncRNA_intronic	.	.	.	.	2
chr7	81643813	LOC101927356	T	C	1	0.00359425	.	MedGen:CN169374	not_specified	Benign	0.0073	.	ncRNA_intronic	.	0.0079	0.0075	0.0069	0
chr7	81667468	CACNA2D1	C	T	11	0.019369	.	MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736	Brugada_syndrome|not_specified|Cardiovascular_phenotype	Benign	0.0502	synonymous_SNV	exonic	.	0.0448	0.0474	0.0631	-1
chr7	81695859	CACNA2D1	G	A	1	0.0071885	.	MedGen:CN169374	not_specified	Likely_benign	6.77e-05	.	intronic	.	.	0.0057	0.0011	0
chr7	81765996	CACNA2D1	CAAAAAAAAAAGAACGC	CAAAAAAAAAAAGAACGC,CAAAAAAAAAGAACGC,AAAAAAAAAAAGAACGC	1	.	.	.	.	.	5.453e-05	.	intronic	.	.	0.0015	0.0011	0
chr7	81766010	CACNA2D1	C	T	1	.	.	.	.	.	0	.	intronic	.	0.0001	0	6.714e-05	2
chr7	81799966	CACNA2D1	G	A	9	0.0139776	.	.	.	.	0.0244	.	intronic	.	0.0274	0.0265	0.0216	-1
chr7	81799990	CACNA2D1	T	C	9	0.0609026	.	.	.	.	.	.	intronic	.	0.0292	.	0.0218	-1
chr7	81799996	CACNA2D1	C	G	9	0.0609026	.	.	.	.	.	.	intronic	.	0.0289	.	0.0218	-1
chr7	81964578	CACNA2D1	GAAAAAAAAAACTAG	GAAAAAAAAAAACTAG,AAAAAAAAAAACTAG,TAAAAAAAAAACTAG,GAAAAAAAAACTAG,TAAAAAAAAAAACTAG	9	.	.	.	.	.	.	.	intronic	.	.	.	.	4
chr7	91603115	AKAP9	C	T	3	0.00219649	-1.115	MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736	Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype	Benign/Likely_benign	0.0127	nonsynonymous_SNV	exonic	T	0.0140	0.0133	0.0108	-1
chr7	91609712	AKAP9	T	G	1	.	.	.	.	.	.	.	intronic	.	.	.	.	2
chr7	91622303	AKAP9	G	C	2	0.00119808	2.587	MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN029323,OMIM:601144|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202	Long_QT_syndrome|Long_QT_syndrome_11|Brugada_syndrome_1|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype|not_provided	Conflicting_interpretations_of_pathogenicity	0.0022	nonsynonymous_SNV	exonic	T	0.0034	0.0026	0.0030	0
chr7	91630179	AKAP9	A	G	1	.	.	MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN230736	Long_QT_syndrome|Cardiovascular_phenotype	Benign/Likely_benign	0.0011	synonymous_SNV	exonic	.	.	0.0005	0.0003	0
chr7	91630620	AKAP9	G	T	91	0.372204	-0.375	MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN169374|MedGen:CN221574|MedGen:CN230736	Long_QT_syndrome|Long_QT_syndrome_11|not_specified|Colorectal_cancer|Cardiovascular_phenotype	Benign/Likely_benign	0.4004	nonsynonymous_SNV	exonic	T	0.4030	0.3908	0.3782	-1
chr7	91632306	AKAP9	C	T	198	0.935903	.	MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736	Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype	Benign/Likely_benign	0.8650	synonymous_SNV	exonic	.	0.8727	0.8638	0.8471	-1
chr7	91641928	AKAP9	A	G	91	0.373802	.	MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736	Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype	Benign/Likely_benign	0.4006	synonymous_SNV	exonic	.	0.4031	0.3908	0.3779	-1
chr7	91651548	AKAP9	A	G	1	.	.	.	.	.	2.999e-05	.	intronic	.	.	3.586e-05	0	2
chr7	91652178	AKAP9	AAACT	AAACAACT	91	0.42472	.	MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736	Long_QT_syndrome|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype	Benign/Likely_benign	0.4010	nonframeshift_insertion	exonic	.	0.4031	0.3893	0.3761	-1
chr7	91652302	AKAP9	G	C	1	0.000199681	-0.977	MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736	Long_QT_syndrome|not_specified|Cardiovascular_phenotype	Likely_benign	0.0013	nonsynonymous_SNV	exonic	T	0.0013	0.0011	0.0014	0
chr7	91652317	AKAP9	C	T	1	.	1.635	.	.	.	2.998e-05	nonsynonymous_SNV	exonic	T	0.0001	1.791e-05	0	2
chr7	91659216	AKAP9	G	T	1	.	0.720	MedGen:CN517202	not_provided	Uncertain_significance	1.499e-05	nonsynonymous_SNV	exonic	T	.	8.956e-06	.	2
chr7	91668072	AKAP9	A	G	1	.	-0.733	.	.	.	.	nonsynonymous_SNV	exonic	T	.	.	.	2
chr7	91669960	AKAP9	GTTTTTTTTTTTTTTTTTA	GTTTTTTTTTTTTTTTTTTA	3	.	.	.	.	.	0.1614	.	intronic	.	0.3501	0.2447	0.4609	-1
chr7	91669979	AKAP9	C	A	22	.	.	.	.	.	.	.	intronic	.	.	.	.	4
chr7	91670120	AKAP9	A	C	1	0.000599042	.	.	.	.	0.0004	synonymous_SNV	exonic	.	0.0002	0.0004	0.0002	0
chr7	91691601	AKAP9	C	T	91	0.359824	.	MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736	Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype	Benign/Likely_benign	0.4002	synonymous_SNV	exonic	.	0.4031	0.3906	0.3776	-1
chr7	91691756	AKAP9	G	T	1	.	5.783	MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007	Long_QT_syndrome	Uncertain_significance	.	nonsynonymous_SNV	exonic	T	.	.	.	3
chr7	91694743	AKAP9	A	G	1	0.000199681	6.436	MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN230736|MedGen:CN517202	Long_QT_syndrome|Romano-Ward_syndrome|Cardiovascular_phenotype|not_provided	Conflicting_interpretations_of_pathogenicity	0.0009	nonsynonymous_SNV	exonic	T	0.0008	0.0011	0.0011	1
chr7	91695882	AKAP9	C	T	1	.	.	.	.	.	7.557e-05	.	intronic	.	.	4.555e-05	.	2
chr7	91700267	AKAP9	T	C	1	0.00199681	2.032	MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN230736|MedGen:CN517202	Long_QT_syndrome|Long_QT_syndrome_11|Cardiovascular_phenotype|not_provided	Benign/Likely_benign	0.0055	nonsynonymous_SNV	exonic	T	0.0030	0.0049	0.0039	0
chr7	91707197	AKAP9	C	T	91	0.36242	.	MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374	Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified	Benign/Likely_benign	0.4291	.	intronic	.	0.4004	0.3882	0.3782	-1
chr7	91708898	AKAP9	A	G	32	0.0654952	-1.816	MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736	Long_QT_syndrome|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype	Benign/Likely_benign	0.1364	nonsynonymous_SNV	exonic	T	0.1273	0.1370	0.1533	-1
chr7	91712698	AKAP9	A	G	91	0.295927	-0.076	MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736	Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype	Benign/Likely_benign	0.3992	nonsynonymous_SNV	exonic	T	0.4013	0.3899	0.3764	-1
chr7	91713972	AKAP9	C	T	91	0.373802	.	MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736	Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype	Benign/Likely_benign	0.4000	synonymous_SNV	exonic	.	0.4027	0.3900	0.3782	-1
chr7	91714015	AKAP9	G	C	1	.	2.529	.	.	.	.	nonsynonymous_SNV	exonic	T	.	.	.	2
chr7	91714911	AKAP9	C	T	230	0.998802	-0.130	MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202	Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype|not_provided	Benign/Likely_benign	0.9963	nonsynonymous_SNV	exonic	T	0.9962	0.9963	0.9942	-1
chr7	91715662	AKAP9	C	T	91	0.295727	.	MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736	Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype	Benign/Likely_benign	0.3990	synonymous_SNV	exonic	.	0.4013	0.3898	0.3766	-1
chr7	91718854	AKAP9	T	C	1	.	.	.	.	.	0.0024	.	intronic	.	0.0017	0.0021	0.0013	0
chr7	91726107	AKAP9	A	G	1	.	.	.	.	.	.	synonymous_SNV	exonic	.	.	.	.	2
chr7	91726576	AKAP9	C	T	1	.	11.961	.	.	.	.	stopgain	exonic	.	.	.	.	6
chr7	91726927	AKAP9	A	C	91	0.377396	.	MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736	Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype	Benign/Likely_benign	0.4001	synonymous_SNV	exonic	.	0.4036	0.3909	0.3776	-1
chr7	91726960	AKAP9	G	A	1	0.000199681	5.335	MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN230736|MedGen:CN517202	Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|Cardiovascular_phenotype|not_provided	Conflicting_interpretations_of_pathogenicity	0.0008	nonsynonymous_SNV	exonic	T	0.0008	0.0006	0.0007	1
chr7	91727479	AKAP9	A	T	1	0.000599042	6.273	MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202	Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype|not_provided	Conflicting_interpretations_of_pathogenicity	0.0014	nonsynonymous_SNV	exonic	T	0.0013	0.0015	0.0012	1
chr7	91729127	AKAP9	A	G	5	0.00678914	1.252	MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736	Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype	Benign/Likely_benign	0.0099	nonsynonymous_SNV	exonic	T	0.0088	0.0104	0.0093	-1
chr7	91735104	AKAP9	A	C	1	0.00139776	.	.	.	.	0.0006	.	intronic	.	0.0001	0.0007	0.0004	0
chr7	91736709	AKAP9	T	C	1	.	2.077	MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374	Long_QT_syndrome|not_specified	Conflicting_interpretations_of_pathogenicity	0.0001	nonsynonymous_SNV	exonic	T	0.0002	0.0002	6.662e-05	1
chr7	91737825	AKAP9	CTGAT	CT	1	.	.	.	.	.	.	nonframeshift_deletion	exonic	.	.	.	.	2
chr7	92077201	GATAD1	GGG	GGA,CGG	1	.	-1.144	.	.	.	.	nonsynonymous_SNV	exonic	T	.	.	.	2
chr7	92077202	GATAD1	GGGCA	GAGCA,CCCCC,CGGCA,GGGCC,TGGCA,CGCCC	1	.	.	.	.	.	.	nonframeshift_substitution	exonic	.	.	.	.	2
chr7	92077203	GATAD1	GGCA	AGCA,GCCC,CCCC,CGCA,GGCC	1	.	.	.	.	.	.	frameshift_deletion\x3bframeshift_deletion	exonic\x3bexonic	.	.	.	.	2
chr7	92078092	GATAD1	T	G	1	.	.	MedGen:C3553409,OMIM:614672|MedGen:CN169374	Cardiomyopathy,_dilated,_2b|not_specified	Benign/Likely_benign	0.0003	synonymous_SNV	exonic	.	0.0007	0.0004	0.0002	0
chr7	92085828	GATAD1	G	A	1	0.000798722	.	MedGen:C3553409,OMIM:614672|MedGen:CN169374|MedGen:CN230736	Cardiomyopathy,_dilated,_2b|not_specified|Cardiovascular_phenotype	Benign/Likely_benign	0.0021	synonymous_SNV	exonic	.	0.0034	0.0026	0.0038	0
chr7	128470838	FLNC	C	T	23	0.110024	.	MedGen:CN169374	not_specified	Benign	0.0860	synonymous_SNV	exonic	.	0.0851	0.0856	0.0929	-1
chr7	128470902	FLNC	A	G	1	.	4.048	.	.	.	.	nonsynonymous_SNV	exonic	T	.	9.003e-06	.	2
chr7	128475393	FLNC	C	T	1	.	.	MedGen:CN169374	not_specified	Likely_benign	0.0001	synonymous_SNV	exonic	.	0.0001	9.057e-05	.	2
chr7	128475588	FLNC	C	T	1	0.000399361	.	MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310	Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant	Benign/Likely_benign	0.0037	synonymous_SNV	exonic	.	0.0016	0.0031	0.0045	-0.5
chr7	128475624	FLNC	C	T	1	0.00119808	.	MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310	Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant	Benign/Likely_benign	0.0025	synonymous_SNV	exonic	.	0.0021	0.0023	0.0017	-0.5
chr7	128477472	FLNC	T	C	27	0.121805	.	MedGen:CN169374	not_specified	Benign	0.1113	synonymous_SNV	exonic	.	0.1110	0.1118	0.1201	-1
chr7	128477547	FLNC	T	C	27	0.121006	.	MedGen:CN169374	not_specified	Benign	0.1112	synonymous_SNV	exonic	.	0.1108	0.1116	0.1200	-1
chr7	128477620	FLNC	G	A	21	0.076877	.	MedGen:CN169374	not_specified	Benign	0.0891	.	intronic	.	0.0864	0.0879	0.0896	-1
chr7	128477778	FLNC	A	G	1	.	5.572	.	.	.	.	nonsynonymous_SNV	exonic	D	.	.	.	4
chr7	128477823	FLNC	G	T	2	.	.	MedGen:CN169374	not_specified	Likely_benign	0.0005	.	intronic	.	.	0.0004	0.0002	0
chr7	128478103	FLNC	C	T	9	0.196486	.	MedGen:CN169374	not_specified	Benign	0.0420	synonymous_SNV	exonic	.	0.0409	0.0410	0.0397	-1
chr7	128480123	FLNC	C	A	7	0.196086	.	MedGen:CN169374	not_specified	Benign	0.0205	synonymous_SNV	exonic	.	0.0179	0.0181	0.0192	-1
chr7	128480184	FLNC	G	A	1	0.000998403	7.368	MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310	Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant	Conflicting_interpretations_of_pathogenicity	0.0014	nonsynonymous_SNV	exonic	D	0.0012	0.0013	0.0011	2.5
chr7	128480229	FLNC	C	A	2	0.00139776	.	MedGen:CN169374|MedGen:CN517202	not_specified|not_provided	Benign	0.0063	.	intronic	.	0.0052	0.0064	0.0067	0
chr7	128480652	FLNC	G	A	1	0.000199681	2.421	MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310	Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant	Conflicting_interpretations_of_pathogenicity	0.0013	nonsynonymous_SNV	exonic	T	0.0011	0.0013	0.0018	0.5
chr7	128480666	FLNC	C	T	4	0.0159744	.	MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310	Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant	Benign	0.0395	synonymous_SNV	exonic	.	0.0347	0.0386	0.0442	-2
chr7	128481312	FLNC	G	A	2	0.00159744	.	MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310	Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant	Benign	0.0064	synonymous_SNV	exonic	.	0.0054	0.0066	0.0068	-1
chr7	128481562	FLNC	G	A	1	.	2.772	.	.	.	5.995e-05	nonsynonymous_SNV	exonic	T	.	6.266e-05	0	2
chr7	128482440	FLNC	C	G	9	0.267372	.	MedGen:CN169374	not_specified	Benign	0.0534	.	intronic	.	0.0515	0.0539	0.0538	-1
chr7	128482735	FLNC	G	T	1	.	6.862	.	.	.	.	nonsynonymous_SNV	exonic	D	.	.	.	4
chr7	128482834	FLNC	C	T	2	0.00339457	.	MedGen:CN169374	not_specified	Benign	0.0169	.	intronic	.	0.0114	0.0136	0.0101	-1
chr7	128482835	FLNC	C	T	4	0.0147764	.	MedGen:CN169374	not_specified	Benign	0.0449	.	intronic	.	0.0352	0.0387	0.0446	-1
chr7	128482839	FLNC	T	C	1	0.000399361	.	MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310	Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant	Benign/Likely_benign	0.0037	.	intronic	.	0.0026	0.0034	0.0030	-0.5
chr7	128482959	FLNC	C	T	1	0.0239617	3.931	MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310	Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant	Benign	0.0012	nonsynonymous_SNV	exonic	D	0.0015	0.0012	0.0012	-1
chr7	128482977	FLNC	G	A	1	.	2.091	.	.	.	1.516e-05	nonsynonymous_SNV	exonic	T	0.0001	3.588e-05	.	2
chr7	128484236	FLNC	C	G	1	.	11.605	.	.	.	.	stopgain	exonic	.	.	.	.	6
chr7	128484816	FLNC	A	G	37	0.379992	.	MedGen:CN169374	not_specified	Benign	0.1635	synonymous_SNV	exonic	.	0.1648	0.1643	0.1724	-1
chr7	128484823	FLNC	C	T	1	.	5.914	MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN239310	Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|Dilated_Cardiomyopathy,_Dominant	Uncertain_significance	0.0001	nonsynonymous_SNV	exonic	D	0.0001	0.0002	0.0003	3
chr7	128485323	FLNC	A	G	1	.	.	.	.	.	1.693e-05	.	intronic	.	.	9.293e-06	.	2
chr7	128486091	FLNC	C	T	4	0.0197684	.	MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310	Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant	Benign	0.0398	synonymous_SNV	exonic	.	0.0345	0.0386	0.0448	-2
chr7	128486363	FLNC	C	T	35	0.346046	.	MedGen:CN169374	not_specified	Benign	0.1711	synonymous_SNV	exonic	.	0.1622	0.1667	0.1717	-1
chr7	128486412	FLNC	G	A	1	0.000798722	5.915	MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310	Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant	Conflicting_interpretations_of_pathogenicity	0.0013	nonsynonymous_SNV	exonic	T	0.0018	0.0009	0.0002	1.5
chr7	128486446	FLNC	C	T	9	0.160543	.	MedGen:CN169374	not_specified	Benign	0.0420	synonymous_SNV	exonic	.	0.0401	0.0409	0.0396	-1
chr7	128487866	FLNC	T	C	230	0.990615	.	MedGen:CN169374	not_specified	Benign	0.9999	synonymous_SNV	exonic	.	1	0.9999	0.9999	-1
chr7	128487893	FLNC	G	A	9	0.257788	.	MedGen:CN169374	not_specified	Benign	0.0446	synonymous_SNV	exonic	.	0.0433	0.0439	0.0428	-1
chr7	128488030	FLNC	T	C	1	.	.	MedGen:CN169374	not_specified	Uncertain_significance	0.0002	synonymous_SNV	exonic	.	0.0001	0.0002	6.699e-05	1
chr7	128488734	FLNC	G	A	21	0.0625	4.924	MedGen:CN169374	not_specified	Benign	0.0879	nonsynonymous_SNV	exonic	T	0.0850	0.0866	0.0886	-1
chr7	128488786	FLNC	A	G	1	0.000998403	.	MedGen:CN169374	not_specified	Likely_benign	0.0023	.	intronic	.	0.0015	0.0023	0.0030	0
chr7	128488909	FLNC	G	A	1	.	.	.	.	.	4.515e-05	synonymous_SNV	exonic	.	.	4.505e-05	.	2
chr7	128489228	FLNC	T	C	1	0.00399361	.	MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310	Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant	Benign	0.0050	.	intronic	.	0.0049	0.0054	0.0038	-1
chr7	128489254	FLNC	C	T	1	0.000798722	.	MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310	Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant	Benign/Likely_benign	0.0012	synonymous_SNV	exonic	.	0.0016	0.0013	0.0006	-0.5
chr7	128490553	FLNC	T	C	41	0.403355	.	MedGen:CN169374	not_specified	Benign	0.1948	.	intronic	.	0.1900	0.1934	0.2064	-1
chr7	128491324	FLNC	C	T	1	0.00219649	7.479	MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310	Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant	Benign	0.0083	nonsynonymous_SNV	exonic	T	0.0062	0.0084	0.0068	0
chr7	128491497	FLNC	C	T	4	0.0147764	.	MedGen:CN169374	not_specified	Benign	0.0396	.	intronic	.	0.0352	0.0386	0.0445	-1
chr7	128491603	FLNC	T	C	9	0.288938	.	MedGen:CN169374	not_specified	Benign	0.0448	synonymous_SNV	exonic	.	0.0448	0.0443	0.0431	-1
chr7	128492746	FLNC	C	T	1	0.000199681	7.613	.	.	.	9.158e-05	nonsynonymous_SNV	exonic	T	.	9.889e-05	6.688e-05	2
chr7	128492825	FLNC	G	A	2	0.00479233	.	MedGen:CN169374	not_specified	Benign	0.0185	.	intronic	.	0.0172	0.0189	0.0180	-1
chr7	128494510	FLNC	A	G	1	0.00998403	.	MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310	Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant	Benign	0.0004	synonymous_SNV	exonic	.	0.0008	0.0003	0.0002	-1
chr7	128494727	FLNC	G	A	1	0.000798722	5.307	MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN239310	Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|Dilated_Cardiomyopathy,_Dominant	Benign	0.0002	nonsynonymous_SNV	exonic	D	.	0.0002	6.677e-05	1
chr7	128495338	FLNC	C	T	9	0.258786	.	MedGen:CN169374	not_specified	Benign	0.0445	synonymous_SNV	exonic	.	0.0436	0.0439	0.0426	-1
chr7	128496588	FLNC	T	A	1	.	5.868	.	.	.	.	nonsynonymous_SNV	exonic	D	.	.	.	4
chr7	136700385	CHRM2	A	G	2	0.000998403	-1.074	MedGen:CN169374|MedGen:CN239310	not_specified|Dilated_Cardiomyopathy,_Dominant	Benign/Likely_benign	0.0020	nonsynonymous_SNV	exonic	T	0.0017	0.0018	0.0007	-0.5
chr7	136700603	CHRM2	A	T	1	0.00579073	-0.242	MedGen:CN169374|MedGen:CN239310	not_specified|Dilated_Cardiomyopathy,_Dominant	Benign	1.5e-05	nonsynonymous_SNV	exonic	T	.	9.03e-06	0	-1
chr7	150642438	KCNH2	C	T	1	0.0109824	.	MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007	Long_QT_syndrome	Likely_benign	0.0001	.	UTR3	.	0.0001	9.644e-05	6.684e-05	-1
chr7	150644152	KCNH2	G	T	1	.	.	.	.	.	7.955e-05	.	intronic	.	.	0.0001	.	2
chr7	150644404	KCNH2	G	T	2	0.00159744	.	MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374	Long_QT_syndrome|not_specified	Benign/Likely_benign	0.0147	.	intronic	.	0.0029	0.0038	0.0033	-1
chr7	150644428	KCNH2	C	A	3	0.00898562	5.379	EFO:EFO_0005307,MedGen:C0040479,SNOMED_CT:31722008|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0003811,OMIM:115000|MedGen:C0520806|MedGen:C3150943,OMIM:613688|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202	Torsades_de_pointes|Long_QT_syndrome|Cardiac_arrhythmia|Sudden_unexplained_death|Long_QT_syndrome_2|not_specified|Cardiovascular_phenotype|not_provided	Conflicting_interpretations_of_pathogenicity	0.0200	nonsynonymous_SNV	exonic	T	0.0178	0.0228	0.0351	0
chr7	150644513	KCNH2	T	G	1	.	-0.372	.	.	.	.	nonsynonymous_SNV	exonic	T	.	.	.	2
chr7	150644729	KCNH2	C	A	1	.	-0.174	MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007	Long_QT_syndrome	Uncertain_significance	0	nonsynonymous_SNV	exonic	D	.	0	0	3
chr7	150645534	KCNH2	T	G	62	0.136182	2.039	MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0004238|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202	Long_QT_syndrome|Atrial_fibrillation|not_specified|Cardiovascular_phenotype|not_provided	Benign/Likely_benign	0.2348	nonsynonymous_SNV	exonic	T	0.2326	0.2359	0.2577	-1
chr7	150646974	KCNH2	T	C	1	.	.	.	.	.	.	.	UTR3	.	.	.	.	2
chr7	150648198	KCNH2	A	G	143	0.772165	.	MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736	Long_QT_syndrome|not_specified|Cardiovascular_phenotype	Benign/Likely_benign	0.5994	synonymous_SNV	exonic	.	0.5898	0.6023	0.6004	-1
chr7	150648789	KCNH2	T	C	81	0.608427	.	MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736	Long_QT_syndrome|not_specified|Cardiovascular_phenotype	Benign/Likely_benign	0.3756	synonymous_SNV	exonic	.	0.3601	0.3725	0.3836	-1
chr7	150648846	KCNH2	G	A	1	0.000199681	.	MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN517202	Long_QT_syndrome|not_specified|not_provided	Benign/Likely_benign	3.052e-05	synonymous_SNV	exonic	.	.	5.411e-05	0	1
chr7	150649530	KCNH2	CG	CA	2	.	.	.	.	.	.	frameshift_deletion	exonic	.	.	.	.	2
chr7	150649531	KCNH2	G	A	49	0.341653	.	MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0003811,OMIM:115000|MedGen:CN169374|MedGen:CN230736	Long_QT_syndrome|Cardiac_arrhythmia|not_specified|Cardiovascular_phenotype	Benign/Likely_benign	0.2218	synonymous_SNV	exonic	.	0.2133	0.2141	0.2223	-1
chr7	150649542	KCNH2	G	A	1	0.000599042	.	MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736	Long_QT_syndrome|not_specified|Cardiovascular_phenotype	Benign/Likely_benign	0.0015	synonymous_SNV	exonic	.	0.0017	0.0011	0.0013	0
chr7	150649603	KCNH2	G	A	53	0.342652	.	MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736	Long_QT_syndrome|not_specified|Cardiovascular_phenotype	Benign/Likely_benign	0.2213	synonymous_SNV	exonic	.	0.2135	0.2152	0.2231	-1
chr7	150654517	KCNH2	A	G	1	.	.	.	.	.	3.033e-05	synonymous_SNV	exonic	.	.	1.794e-05	.	2
chr7	150655150	KCNH2	T	G	2	.	2.369	.	.	.	.	nonsynonymous_SNV	exonic	D	.	.	.	3
chr7	150655288	KCNH2	C	T	1	.	3.091	MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1141890,Orphanet:ORPHA768,SNOMED_CT:442917000|MedGen:CN169374	Long_QT_syndrome|Congenital_long_QT_syndrome|not_specified	Uncertain_significance	0	nonsynonymous_SNV	exonic	D	.	0	6.695e-05	3
chr7	150656741	KCNH2	C	A	1	.	2.392	.	.	.	2.999e-05	nonsynonymous_SNV	exonic	D	0.0001	2.686e-05	0	3
chr7	151254231	PRKAG2	C	T	3	0.00519169	.	.	.	.	.	.	UTR3	.	0.0082	.	0.0071	1
chr7	151257695	PRKAG2	C	T	3	0.00139776	.	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	Cardiomyopathy|Wolff-Parkinson-White_syndrome|Glycogen_storage_disease_of_heart,_lethal_congenital|not_specified|Cardiovascular_phenotype|Familial_Hypertrophic_Cardiomyopathy_with_Wolff-Parkinson-White_Syndrome	Conflicting_interpretations_of_pathogenicity	0.0050	synonymous_SNV	exonic	.	0.005	0.0056	0.0047	1
chr7	151262385	PRKAG2	T	C,G	3	.	.	.	.	.	.	.	intronic	.	.	.	.	3
chr7	151262528	PRKAG2	A	C	2	0.00239617	.	.	.	.	.	.	intronic	.	.	.	0.0008	0
chr7	151267353	PRKAG2	G	A	20	0.144169	.	MedGen:CN169374	not_specified	Benign	0.1175	.	intronic	.	0.1105	0.1131	0.1201	-1
chr7	151292395	PRKAG2	AAT	ATAT	29	0.804712	.	MedGen:CN169374	not_specified	Likely_benign	0.7345	.	intronic	.	0.7284	0.7300	0.7277	-1
chr7	151329206	PRKAG2	G	A	1	.	.	MedGen:C1849813,OMIM:261740,Orphanet:ORPHA439854	Glycogen_storage_disease_of_heart,_lethal_congenital	Likely_benign	.	synonymous_SNV	exonic	.	.	1.288e-05	.	2
chr7	151372719	PRKAG2	G	A	1	.	.	MedGen:C1849813,OMIM:261740,Orphanet:ORPHA439854|MedGen:CN169374|MedGen:CN230736	Glycogen_storage_disease_of_heart,_lethal_congenital|not_specified|Cardiovascular_phenotype	Benign/Likely_benign	0.0003	synonymous_SNV	exonic	.	0.0002	0.0003	0.0004	1
chr7	151478445	PRKAG2	T	G	1	.	4.607	.	.	.	.	nonsynonymous_SNV	exonic	D	.	.	.	3
chr7	151478457	PRKAG2	G	A	1	0.000199681	-0.304	MedGen:C1849813,OMIM:261740,Orphanet:ORPHA439854|MedGen:CN169374|MedGen:CN230736	Glycogen_storage_disease_of_heart,_lethal_congenital|not_specified|Cardiovascular_phenotype	Likely_benign	0.0006	nonsynonymous_SNV	exonic	T	0.0007	0.0005	0.0003	0
chr7	151483619	PRKAG2	G	A	1	.	.	Human_Phenotype_Ontology:HP:0001716,MedGen:C1963282|MedGen:C1849813,OMIM:261740,Orphanet:ORPHA439854|MedGen:CN169374|MedGen:CN230736|MedGen:CN239247	Wolff-Parkinson-White_syndrome|Glycogen_storage_disease_of_heart,_lethal_congenital|not_specified|Cardiovascular_phenotype|Familial_Hypertrophic_Cardiomyopathy_with_Wolff-Parkinson-White_Syndrome	Conflicting_interpretations_of_pathogenicity	0.0002	synonymous_SNV\x3bsynonymous_SNV	exonic\x3bexonic	.	.	9.083e-05	0	1
chr7	151573580	PRKAG2	G	A	19	0.0277556	.	Human_Phenotype_Ontology:HP:0001716,MedGen:C1963282|MedGen:C1849813,OMIM:261740,Orphanet:ORPHA439854|MedGen:CN169374|MedGen:CN239247	Wolff-Parkinson-White_syndrome|Glycogen_storage_disease_of_heart,_lethal_congenital|not_specified|Familial_Hypertrophic_Cardiomyopathy_with_Wolff-Parkinson-White_Syndrome	Benign/Likely_benign	0.0710	.	intronic	.	0.0769	0.0731	0.0817	-1
chr7	151573731	PRKAG2	G	A	22	0.188898	.	Human_Phenotype_Ontology:HP:0001716,MedGen:C1963282|MedGen:C1849813,OMIM:261740,Orphanet:ORPHA439854|MedGen:CN169374|MedGen:CN239247	Wolff-Parkinson-White_syndrome|Glycogen_storage_disease_of_heart,_lethal_congenital|not_specified|Familial_Hypertrophic_Cardiomyopathy_with_Wolff-Parkinson-White_Syndrome	Likely_benign	0.1276	.	UTR5	.	0.1259	0.1237	0.1309	-1
chr8	11566020	GATA4	T	G	2	.	-1.537	.	.	.	.	nonsynonymous_SNV	exonic	D	.	.	.	3
chr8	11566237	GATA4	C	A	1	.	1.025	.	.	.	.	nonsynonymous_SNV	exonic	D	.	.	.	3
chr8	11566283	GATA4	C	T	1	0.000399361	.	MedGen:C3280781,OMIM:614430|MedGen:CN230736	Atrioventricular_septal_defect_4|Cardiovascular_phenotype	Benign/Likely_benign	0.0030	synonymous_SNV	exonic	.	.	0.0030	0.0037	0
chr8	11566452	GATA4	G	A	1	.	.	.	.	.	0.0004	.	intronic	.	.	0.0003	6.685e-05	1
chr8	11607658	GATA4	C	T	1	0.00179712	.	EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|Human_Phenotype_Ontology:HP:0001636,MedGen:C0039685,OMIM:187500,Orphanet:ORPHA3303,SNOMED_CT:86299006|MedGen:C1842778,OMIM:607941|MedGen:C3280777,OMIM:614429|MedGen:C3280781,OMIM:614430|MedGen:CN169374|MedGen:CN230736	Primary_dilated_cardiomyopathy|Tetralogy_of_Fallot|Atrial_septal_defect_2|Ventricular_septal_defect_1|Atrioventricular_septal_defect_4|not_specified|Cardiovascular_phenotype	Conflicting_interpretations_of_pathogenicity	0.0030	synonymous_SNV	exonic	.	0.0040	0.0032	0.0041	0.5
chr8	11607768	GATA4	C	T	1	0.000199681	.	.	.	.	0.0004	.	intronic	.	0.0005	0.0005	0.0005	0
chr8	11614469	GATA4	T	C	1	0.00758786	.	MedGen:C3280781,OMIM:614430|MedGen:CN230736	Atrioventricular_septal_defect_4|Cardiovascular_phenotype	Benign	3.004e-05	synonymous_SNV	exonic	.	.	6.274e-05	0.0001	0
chr8	11614575	GATA4	A	G	32	0.0429313	0.793	MedGen:CN169374|MedGen:CN230736|MedGen:CN517202	not_specified|Cardiovascular_phenotype|not_provided	Benign	0.1354	nonsynonymous_SNV	exonic	T	0.14	0.1309	0.1595	-1
chr8	74888616	TMEM70	G	C	47	0.176118	2.230	MedGen:CN169374|MedGen:CN239153	not_specified|Mitochondrial_Complex_V_(ATP_Synthase)_Deficiency,_Nuclear_Type	Benign	0.1674	nonsynonymous_SNV	exonic	T	0.1301	0.1316	0.1276	-1
chr8	74890960	TMEM70	TA	TG	2	.	.	.	.	.	.	.	intronic\x3bintronic	.	.	.	.	2
chr8	74890961	TMEM70	A	G	94	0.477835	.	.	.	.	0.4598	.	intronic\x3bintronic	.	0.4551	0.4526	0.4510	-1
chr8	74890961	TMEM70	A	G	20	0.477835	.	.	.	.	0.4598	.	intronic\x3bintronic	.	0.4551	0.4526	0.4510	-1
chr8	74893419	TMEM70	C	G	7	0.0227636	-2.907	MedGen:C3279699,OMIM:614052,Orphanet:ORPHA1194|MedGen:CN169374|MedGen:CN239153	Nuclearly-encoded_mitochondrial_complex_V_(ATP_synthase)_deficiency_2|not_specified|Mitochondrial_Complex_V_(ATP_Synthase)_Deficiency,_Nuclear_Type	Benign/Likely_benign	0.0202	nonsynonymous_SNV	exonic	T	0.0177	0.0193	0.0219	-1
chr8	74893653	TMEM70	G	A	3	0.0071885	0.759	MedGen:C3279699,OMIM:614052,Orphanet:ORPHA1194|MedGen:CN169374	Nuclearly-encoded_mitochondrial_complex_V_(ATP_synthase)_deficiency_2|not_specified	Benign	0.0170	nonsynonymous_SNV	exonic	T	0.0156	0.0154	0.0173	-1
chr8	74893757	TMEM70	C	G	1	0.00479233	0.610	MedGen:C3279699,OMIM:614052,Orphanet:ORPHA1194|MedGen:CN169374|MedGen:CN517202	Nuclearly-encoded_mitochondrial_complex_V_(ATP_synthase)_deficiency_2|not_specified|not_provided	Benign/Likely_benign	0.0002	nonsynonymous_SNV	exonic	T	0.0001	0.0002	0.0002	0
chr8	74893821	TMEM70	A	G	55	0.258986	-3.329	MedGen:CN169374|MedGen:CN239153	not_specified|Mitochondrial_Complex_V_(ATP_Synthase)_Deficiency,_Nuclear_Type	Benign	0.1603	nonsynonymous_SNV	exonic	T	0.1556	0.1522	0.1506	-1
chr8	74893850	TMEM70	C	G	55	0.258986	-1.736	MedGen:CN169374|MedGen:CN239153	not_specified|Mitochondrial_Complex_V_(ATP_Synthase)_Deficiency,_Nuclear_Type	Benign	0.1605	nonsynonymous_SNV	exonic	T	0.1556	0.1516	0.1506	-1
chr9	7161999	KDM4C	A	C	7	0.00599042	.	.	.	.	.	.	intronic	.	.	.	0.0156	2
chr9	7162001	KDM4C	CTT	CT	1	.	.	.	.	.	.	.	intronic	.	.	.	.	2
chr9	7162074	KDM4C	A	C	6	0.0061901	.	.	.	.	.	.	intronic	.	.	.	0.0125	2
chr9	7162351	KDM4C	G	A	76	0.126797	.	.	.	.	.	.	intronic	.	.	.	0.1872	-1
chr9	71650692	FXN	G	A	4	0.00758786	.	MedGen:CN169374	not_specified	Benign	0.0265	.	UTR5	.	.	0.0325	0.0291	-1
chr9	71650711	FXN	G	A	1	.	2.084	.	.	.	.	nonsynonymous_SNV	exonic	T	.	.	.	2
chr9	71650752	FXN	A	G	230	0.984824	.	MedGen:C1856689,OMIM:229300|MedGen:CN169374|MedGen:CN230736	Friedreich_ataxia_1|not_specified|Cardiovascular_phenotype	Benign	1	synonymous_SNV	exonic	.	.	0.9998	0.9999	-1
chr9	71668197	FXN	T	C	141	0.501597	.	.	.	.	0.5290	.	intronic	.	0.5149	0.5285	0.5132	-1
chr9	71679993	FXN	A	G	1	0.00998403	.	.	.	.	0.0001	.	intronic\x3bintronic	.	0.0001	0.0001	0.0001	0
chr9	71714764	FXN	T	C	3	.	.	.	.	.	.	.	intronic	.	.	.	0.0003	3
chr9	103348208	MURC	A	T	6	0.117812	.	MedGen:CN169374	not_specified	Benign	0.0238	synonymous_SNV	exonic	.	0.0236	0.0238	0.0218	-1
chr9	103348319	MURC	C	T	2	.	.	.	.	.	1.499e-05	synonymous_SNV	exonic	.	.	8.977e-06	.	2
chr9	103348352	MURC	A	C	1	.	.	MedGen:CN169374	not_specified	Likely_benign	6.059e-05	synonymous_SNV	exonic	.	0.0001	6.33e-05	.	2
chr9	103348609	MURC	C	G	1	.	-0.366	.	.	.	0.0001	nonsynonymous_SNV	exonic	T	.	3.585e-05	0	2
chr9	103348634	MURC	G	A	66	0.293331	.	MedGen:CN169374	not_specified	Benign	0.4040	synonymous_SNV	exonic	.	0.4166	0.4052	0.4264	-1
chr9	108363420	FKTN	A	G	7	0.00499201	.	Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C0265221,Orphanet:ORPHA899,SNOMED_CT:111504002|MedGen:CN169374	Cardiomyopathy|Walker-Warburg_congenital_muscular_dystrophy|not_specified	Benign/Likely_benign	0.0202	.	intronic	.	0.0122	0.0125	0.0117	-1
chr9	108363426	FKTN	C	T	6	0.0103834	5.704	MedGen:C0265221,Orphanet:ORPHA899,SNOMED_CT:111504002|MedGen:C0410174,OMIM:253800,Orphanet:ORPHA272,SNOMED_CT:111502003|MedGen:CN169374|MedGen:CN230736|MedGen:CN239222	Walker-Warburg_congenital_muscular_dystrophy|Fukuyama_congenital_muscular_dystrophy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Recessive	Conflicting_interpretations_of_pathogenicity	0.0368	nonsynonymous_SNV	exonic	D	0.0283	0.0273	0.0245	1.5
chr9	108366499	FKTN	G	A	4	0.0371406	1.784	MedGen:C0265221,Orphanet:ORPHA899,SNOMED_CT:111504002|MedGen:C0410174,OMIM:253800,Orphanet:ORPHA272,SNOMED_CT:111502003|MedGen:CN169374|MedGen:CN230736	Walker-Warburg_congenital_muscular_dystrophy|Fukuyama_congenital_muscular_dystrophy|not_specified|Cardiovascular_phenotype	Benign	0.0106	nonsynonymous_SNV	exonic	T	0.0114	0.0110	0.0108	-1
chr9	108366734	FKTN	G	A	51	0.158147	3.672	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	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	Benign/Likely_benign	0.3053	nonsynonymous_SNV	exonic	T	0.3190	0.3085	0.3229	-1.5
chr9	108377702	FKTN	G	A	7	0.00499201	.	MedGen:CN169374	not_specified	Benign/Likely_benign	0.0135	.	intronic	.	0.0124	0.0127	0.0117	-1
chr9	108380223	FKTN	T	A	1	0.000399361	.	.	.	.	0.0002	.	intronic	.	.	0.0001	.	1
chr9	108380352	FKTN	G	A	1	.	.	Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C0265221,Orphanet:ORPHA899,SNOMED_CT:111504002|MedGen:CN169374|MedGen:CN230736	Cardiomyopathy|Walker-Warburg_congenital_muscular_dystrophy|not_specified|Cardiovascular_phenotype	Benign/Likely_benign	0.0007	synonymous_SNV	exonic	.	0.0003	0.0004	0.0012	0
chr9	108380355	FKTN	C	A	51	0.178315	.	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	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	Benign/Likely_benign	0.3058	synonymous_SNV	exonic	.	0.3177	0.3079	0.3218	-1.5
chr9	108397495	FKTN	A	G	7	0.00519169	4.689	Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C0265221,Orphanet:ORPHA899,SNOMED_CT:111504002|MedGen:CN169374|MedGen:CN230736	Cardiomyopathy|Walker-Warburg_congenital_muscular_dystrophy|not_specified|Cardiovascular_phenotype	Benign/Likely_benign	0.0135	nonsynonymous_SNV	exonic	T	0.0124	0.0127	0.0118	-1
chr9	131708133	DOLK	T	C	1	0.00319489	0.428	MedGen:C1835849,OMIM:610768,Orphanet:ORPHA91131|MedGen:CN169374	Congenital_disorder_of_glycosylation_type_1M|not_specified	Benign	0.0007	nonsynonymous_SNV	exonic	T	0.0007	0.0007	0.0009	0
chr9	131709581	DOLK	ATA	ATTA	1	0.00259585	.	MedGen:C1835849,OMIM:610768,Orphanet:ORPHA91131|MedGen:CN169374|MedGen:CN517202	Congenital_disorder_of_glycosylation_type_1M|not_specified|not_provided	Benign/Likely_benign	0.0130	frameshift_insertion	exonic	.	0.0092	0.0114	0.0092	-1
chrX	31165400	DMD	G	A	2	0.0018543	.	MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED_CT:76670001|MedGen:C3668940,OMIM:302045|MedGen:CN169374|MedGen:CN230736	Duchenne_muscular_dystrophy|Dilated_cardiomyopathy_3B|not_specified|Cardiovascular_phenotype	Conflicting_interpretations_of_pathogenicity	0.0070	synonymous_SNV	exonic	.	0.0073	0.0073	0.0078	0.5
chrX	31191631	DMD	G	T	2	.	.	.	.	.	2.118e-05	.	intronic	.	.	2.53e-05	.	2
chrX	31198469	DMD	G	T	2	.	.	.	.	.	2.139e-05	.	intronic	.	.	1.257e-05	.	2
chrX	31200830	DMD	ACATTTTTTTTTTGGTTCC	ACATTTTTTTTTTTGGTTCC,CCATTTTTTTTTTGGTTCC	2	.	.	.	.	.	.	.	intronic	.	.	.	.	2
chrX	31200831	DMD	CATTTTTTTTTTGGTTCC	CATTTTTTTTTTTGGTTCC,AATTTTTTTTTTGGTTCC	2	.	.	.	.	.	.	.	intronic	.	.	.	.	2
chrX	31200832	DMD	ATTTTTTTTTTGGTTCC	ATTTTTTTTTGGTTCC,ATTTTTTTTTTTGGTTCC,ATTTTTTTTTTTTGGTTCC,ATTTTTTTTTTGGTTCA	2	.	.	.	.	.	.	.	intronic	.	.	.	.	2
chrX	31224684	DMD	A	G	203	0.803974	.	MedGen:C3668940,OMIM:302045|MedGen:CN169374	Dilated_cardiomyopathy_3B|not_specified	Benign/Likely_benign	0.9039	.	intronic	.	0.8793	0.8838	0.8864	-1.5
chrX	31496350	DMD	C	T	214	0.881854	2.138	MedGen:CN169374	not_specified	Benign	0.9459	nonsynonymous_SNV	exonic	T	0.9392	0.9407	0.9457	-1
chrX	31496398	DMD	T	C	6	0.0148344	-0.113	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	Duchenne_muscular_dystrophy|Becker_muscular_dystrophy|Dilated_cardiomyopathy_3B|not_specified|Cardiovascular_phenotype	Conflicting_interpretations_of_pathogenicity	0.0340	nonsynonymous_SNV	exonic	T	0.0297	0.0330	0.0318	-0.5
chrX	31496426	DMD	T	C	2	0.0370861	1.799	MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED_CT:76670001|MedGen:C3668940,OMIM:302045|MedGen:CN169374|MedGen:CN230736	Duchenne_muscular_dystrophy|Dilated_cardiomyopathy_3B|not_specified|Cardiovascular_phenotype	Conflicting_interpretations_of_pathogenicity	0.0117	nonsynonymous_SNV	exonic	T	0.0085	0.0102	0.0117	-0.5
chrX	31496431	DMD	T	A	2	0.0357616	5.718	MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED_CT:76670001|MedGen:C3668940,OMIM:302045|MedGen:CN169374|MedGen:CN230736	Duchenne_muscular_dystrophy|Dilated_cardiomyopathy_3B|not_specified|Cardiovascular_phenotype	Conflicting_interpretations_of_pathogenicity	0.0117	nonsynonymous_SNV	exonic	T	0.0085	0.0101	0.0119	0.5
chrX	31645860	DMD	T	C	1	.	2.162	MedGen:CN169374	not_specified	Conflicting_interpretations_of_pathogenicity	0.0002	nonsynonymous_SNV	exonic	T	.	0.0001	.	1
chrX	31676096	DMD	G	A	68	0.328477	.	MedGen:C3668940,OMIM:302045|MedGen:CN169374	Dilated_cardiomyopathy_3B|not_specified	Benign/Likely_benign	0.3496	.	intronic	.	0.3511	0.3465	0.3714	-1.5
chrX	31697636	DMD	A	G	41	0.181192	.	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	Duchenne_muscular_dystrophy|Becker_muscular_dystrophy|Dilated_cardiomyopathy_3B|not_specified|Cardiovascular_phenotype	Benign/Likely_benign	0.1871	synonymous_SNV	exonic	.	0.2027	0.1943	0.1815	-1.5
chrX	31792291	DMD	G	A	2	.	2.709	.	.	.	.	nonsynonymous_SNV	exonic	T	.	.	.	2
chrX	31893307	DMD	T	G	38	0.183311	1.905	MedGen:CN169374	not_specified	Benign	0.2685	.	splicing	T	0.2178	0.2076	0.2224	3
chrX	31947797	DMD	G	A	1	0.000529801	.	MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED_CT:76670001|MedGen:CN169374	Duchenne_muscular_dystrophy|not_specified	Benign	0.0008	synonymous_SNV	exonic	.	0.0009	0.0008	0.0002	0
chrX	31986499	DMD	G	A	3	.	6.561	MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED_CT:76670001|MedGen:CN169374|MedGen:CN230736	Duchenne_muscular_dystrophy|not_specified|Cardiovascular_phenotype	Conflicting_interpretations_of_pathogenicity	0.0006	nonsynonymous_SNV	exonic	T	0.0004	0.0003	0	2
chrX	31986586	DMD	A	G	1	.	.	.	.	.	4.203e-05	synonymous_SNV	exonic	.	.	3.778e-05	.	2
chrX	31986587	DMD	T	C	1	.	.	MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED_CT:76670001	Duchenne_muscular_dystrophy	Benign	0.0001	synonymous_SNV	exonic	.	.	6.296e-05	.	2
chrX	31986607	DMD	G	A	9	0.0129801	5.113	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	Duchenne_muscular_dystrophy|Becker_muscular_dystrophy|Dilated_cardiomyopathy_3B|not_specified|Cardiovascular_phenotype	Benign/Likely_benign	0.0393	nonsynonymous_SNV	exonic	T	0.0378	0.0410	0.0404	-0.5
chrX	32380996	DMD	C	T	109	0.465166	6.788	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	Duchenne_muscular_dystrophy|Becker_muscular_dystrophy|Dilated_cardiomyopathy_3B|not_specified|Cardiovascular_phenotype	Benign/Likely_benign	0.4823	nonsynonymous_SNV	exonic	T	0.4770	0.4775	0.4730	-0.5
chrX	32383302	DMD	C	T	1	.	.	.	.	.	.	synonymous_SNV	exonic	.	.	.	.	2
chrX	32408311	DMD	T	C	17	0.0336424	.	MedGen:C3668940,OMIM:302045|MedGen:CN169374	Dilated_cardiomyopathy_3B|not_specified	Benign/Likely_benign	0.0806	.	intronic	.	0.0779	0.0740	0.0821	-1.5
chrX	32430155	DMD	C	G	1	.	.	.	.	.	.	nonsynonymous_SNV	exonic	.	.	.	.	2
chrX	32459449	DMD	A	G	2	0.0010596	.	MedGen:CN169374	not_specified	Benign	0.0104	.	intronic	.	0.0089	0.0099	0.0107	-1
chrX	32466625	DMD	G	A	2	0.00847682	1.559	MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED_CT:76670001|MedGen:C3668940,OMIM:302045|MedGen:CN169374|MedGen:CN230736	Duchenne_muscular_dystrophy|Dilated_cardiomyopathy_3B|not_specified|Cardiovascular_phenotype	Benign/Likely_benign	0.0082	nonsynonymous_SNV	exonic	T	0.0109	0.0090	0.0105	-1.5
chrX	32472763	DMD	CTTTTTTTTTTTTTA	CTTTTTTTTTTTTTTA,CTTTTTTTTTTTTA	2	.	.	MedGen:CN169374	not_specified	Benign	0.0578	.	intronic	.	0.1409	0.0768	0.0021	-1
chrX	32482710	DMD	T	A	2	.	4.932	MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED_CT:76670001|MedGen:CN169374	Duchenne_muscular_dystrophy|not_specified	Conflicting_interpretations_of_pathogenicity	0.0001	nonsynonymous_SNV	exonic	T	.	0.0001	9.445e-05	2
chrX	32486625	DMD	C	T	2	.	4.716	.	.	.	0.0001	nonsynonymous_SNV	exonic	T	.	5.594e-05	.	2
chrX	32486681	DMD	G	C	2	.	.	MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED_CT:76670001|MedGen:CN169374	Duchenne_muscular_dystrophy|not_specified	Likely_benign	5.042e-05	synonymous_SNV	exonic	.	.	7.619e-05	9.469e-05	2
chrX	32486703	DMD	A	G	1	.	0.522	.	.	.	.	nonsynonymous_SNV	exonic	T	.	.	.	2
chrX	32486756	DMD	C	T	3	0.00874172	.	MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED_CT:76670001|MedGen:CN169374|MedGen:CN230736	Duchenne_muscular_dystrophy|not_specified|Cardiovascular_phenotype	Benign	0.0190	synonymous_SNV	exonic	.	0.0166	0.0202	0.0178	-1
chrX	32503114	DMD	C	T	2	.	5.122	MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED_CT:76670001	Duchenne_muscular_dystrophy	Uncertain_significance	.	nonsynonymous_SNV	exonic	T	.	.	.	3
chrX	32503194	DMD	T	C	153	0.748344	0.631	MedGen:CN169374	not_specified	Benign	0.6644	nonsynonymous_SNV	exonic	T	0.6629	0.6613	0.6750	-1
chrX	32519981	DMD	G	A	1	.	.	.	.	.	.	.	intronic	.	.	.	.	2
chrX	32563263	DMD	A	G	64	0.412185	.	MedGen:C3668940,OMIM:302045|MedGen:CN169374	Dilated_cardiomyopathy_3B|not_specified	Benign/Likely_benign	0.2441	.	intronic	.	0.2398	0.2317	0.2242	-1.5
chrX	32591931	DMD	T	C	34	0.110464	.	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	Duchenne_muscular_dystrophy|Becker_muscular_dystrophy|Dilated_cardiomyopathy_3B|not_specified|Cardiovascular_phenotype	Benign/Likely_benign	0.1329	synonymous_SNV	exonic	.	0.1225	0.1272	0.1269	-1.5
chrX	32613880	DMD	T	A	2	.	3.637	.	.	.	.	nonsynonymous_SNV	exonic	T	.	.	.	2
chrX	32632565	DMD	T	C	2	.	4.518	EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:CN169374|MedGen:CN230736	Primary_dilated_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|not_specified|Cardiovascular_phenotype	Conflicting_interpretations_of_pathogenicity	0.0003	nonsynonymous_SNV	exonic	T	0.0001	0.0002	0	1.5
chrX	32663135	DMD	T	G	2	.	4.306	MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED_CT:76670001|MedGen:CN169374|MedGen:CN230736	Duchenne_muscular_dystrophy|not_specified|Cardiovascular_phenotype	Conflicting_interpretations_of_pathogenicity	0.0006	nonsynonymous_SNV	exonic	T	0.0009	0.0006	0.0005	0
chrX	32716132	DMD	GG	TC	4	.	.	.	.	.	.	.	intronic	.	.	.	.	3
chrX	32717331	DMD	C	A	2	.	.	.	.	.	.	synonymous_SNV	exonic	.	.	.	.	2
chrX	32867945	DMD	TAAAAAAAATACACT	TAAAAAAAAATACACT	31	0.0762914	.	MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED_CT:76670001|MedGen:C3668940,OMIM:302045|MedGen:CN169374	Duchenne_muscular_dystrophy|Dilated_cardiomyopathy_3B|not_specified	Benign/Likely_benign	0.1149	.	intronic	.	0.1180	0.1074	0.1141	-1.5
chrX	100653950	na	T	C	15	0.16106	.	MedGen:CN169374	not_specified	Benign	0.1191	.	intronic	.	0.1205	0.1202	0.1226	-1
chrX	100662901	GLA	G	A	5	0.124503	.	Human_Phenotype_Ontology:HP:0001071,MedGen:C0002986,OMIM:301500,Orphanet:ORPHA324,SNOMED_CT:16652001|Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN517202	Fabry_disease|Cardiomyopathy|Hypertrophic_cardiomyopathy|not_specified|not_provided	Benign	0.0594	.	UTR5	.	0.0605	0.0593	0.0609	-1
chrX	100662903	GLA	C	T,A	5	.	.	.	.	.	.	.	UTR5	.	.	.	.	4
chrX	108868153	KCNE5	G	A	33	0.0519205	-2.020	.	.	.	0.1836	nonsynonymous_SNV	exonic	T	0.1424	0.1677	0.1475	-1
chrX	119576455	LAMP2	G	A	13	0.013245	.	Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C0878677,OMIM:300257,Orphanet:ORPHA34587,SNOMED_CT:419097006|MedGen:CN169374|MedGen:CN230736	Hypertrophic_cardiomyopathy|Danon_disease|not_specified|Cardiovascular_phenotype	Benign/Likely_benign	0.0407	synonymous_SNV	exonic	.	0.0407	0.0401	0.0402	-1
chrX	119580269	LAMP2	A	C	1	0.000529801	3.794	MedGen:C0878677,OMIM:300257,Orphanet:ORPHA34587,SNOMED_CT:419097006|MedGen:CN169374|MedGen:CN230736	Danon_disease|not_specified|Cardiovascular_phenotype	Benign/Likely_benign	0.0016	nonsynonymous_SNV	exonic	T	0.0025	0.0019	0.0013	0
chrX	119581846	LAMP2	C	T	1	.	.	Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C0878677,OMIM:300257,Orphanet:ORPHA34587,SNOMED_CT:419097006|MedGen:CN169374|MedGen:CN230736	Hypertrophic_cardiomyopathy|Danon_disease|not_specified|Cardiovascular_phenotype	Conflicting_interpretations_of_pathogenicity	0.0002	synonymous_SNV	exonic	.	0.0001	0.0003	0.0002	1
chrX	119589372	LAMP2	A	C	2	.	4.499	.	.	.	.	nonsynonymous_SNV	exonic	T	.	.	.	2
chrX	119590530	LAMP2	GCGT	GCGA	2	.	.	.	.	.	.	frameshift_deletion\x3bframeshift_deletion\x3bframeshift_deletion	exonic\x3bexonic\x3bexonic	.	.	.	.	2
chrX	119590531	LAMP2	CGT	CGA,AGT	2	.	0.281	.	.	.	.	nonsynonymous_SNV	exonic	T	.	.	.	2
chrX	119590532	LAMP2	GT	GA	2	.	.	.	.	.	.	frameshift_deletion\x3bframeshift_deletion\x3bframeshift_deletion	exonic\x3bexonic\x3bexonic	.	.	.	.	2
chrX	119590533	LAMP2	T	A	104	0.380927	.	Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C0878677,OMIM:300257,Orphanet:ORPHA34587,SNOMED_CT:419097006|MedGen:CN169374|MedGen:CN230736	Hypertrophic_cardiomyopathy|Danon_disease|not_specified|Cardiovascular_phenotype	Benign/Likely_benign	0.4528	synonymous_SNV	exonic	.	0.4261	0.4100	0.4223	-1
chrX	119603038	LAMP2	AGGCGGCGACGGCGGCGACG	AGGCGGCGACG	4	.	.	.	.	.	.	.	UTR5	.	.	.	.	3
chrX	135292012	FHL1	CTTTTTTTTTCCCCCCA	CTTTTTTTTTTCCCCCA,ATTTTTTTTTCCCCCCA	4	.	.	.	.	.	.	.	intronic\x3bintronic	.	.	.	.	3
chrX	135292017	FHL1	T	C	1	0.00688742	.	MedGen:CN169374	not_specified	Benign	0.0165	.	intronic	.	0.0036	0.0194	0.0179	-1
chrX	135292021	FHL1	TCCCCCCAG	TTCCCCCAG	4	0.519735	.	MedGen:C2678055,OMIM:300696,Orphanet:ORPHA178461|MedGen:C2678061,OMIM:300695,Orphanet:ORPHA431272|MedGen:CN169374	Myopathy_with_postural_muscle_atrophy,_X-linked|Scapuloperoneal_myopathy,_X-linked_dominant|not_specified	Benign	0.4981	.	intronic\x3bintronic\x3bintronic\x3bintronic\x3bintronic\x3bintronic	.	0.4397	0.5134	0.5799	-1
chrX	135292022	FHL1	CC	TC,AC	4	.	.	.	.	.	.	.	intronic\x3bintronic	.	.	.	.	3
chrX	135292022	FHL1	CC	TC,AC	4	.	.	.	.	.	.	.	intronic\x3bintronic	.	.	.	.	3
chrX	153608120	EMD	C	A	2	0.000529801	.	.	.	.	0	synonymous_SNV	exonic	.	.	0	9.799e-05	0
chrX	153609297	EMD	CCTG	CG	2	.	.	.	.	.	.	frameshift_deletion	exonic	.	.	.	.	2
chrX	153640156	TAZ	A	C	1	.	.	.	.	.	.	.	UTR5	.	.	.	.	2
chrX	153640405	DNASE1L1	CC	CT	2	.	.	.	.	.	.	.	UTR5	.	.	.	.	2
chrX	153640406	DNASE1L1	C	T	48	0.0649007	.	MedGen:C0574083,OMIM:302060,Orphanet:ORPHA111,SNOMED_CT:297231002|MedGen:CN169374	3-Methylglutaconic_aciduria_type_2|not_specified	Conflicting_interpretations_of_pathogenicity	0.3080	.	UTR5	.	0.2477	0.2524	0.2525	-1
chrX	153641619	TAZ	C	T	5	0.00450331	.	.	.	.	0.0100	.	intronic	.	0.0089	0.0089	0.0057	2
chrX	153642450	TAZ	T	C	1	0.0164238	-0.706	Human_Phenotype_Ontology:HP:0001706,MedGen:C0014117,OMIM:226000,Orphanet:ORPHA2022,SNOMED_CT:65457005|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C0574083,OMIM:302060,Orphanet:ORPHA111,SNOMED_CT:297231002|MedGen:C3668940,OMIM:302045|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202	Endocardial_fibroelastosis|Left_ventricular_noncompaction_cardiomyopathy|3-Methylglutaconic_aciduria_type_2|Dilated_cardiomyopathy_3B|not_specified|Cardiovascular_phenotype|not_provided	Benign/Likely_benign	9.151e-05	nonsynonymous_SNV	exonic	D	0.0001	0.0001	0	-0.5
chrX	153648515	TAZ	C	T	1	.	2.109	.	.	.	0.0003	.	intronic	D	0.0001	0.0003	0.0007	1
chrX	153649337	TAZ	G	A	1	0.0015894	.	Human_Phenotype_Ontology:HP:0001706,MedGen:C0014117,OMIM:226000,Orphanet:ORPHA2022,SNOMED_CT:65457005|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C0574083,OMIM:302060,Orphanet:ORPHA111,SNOMED_CT:297231002|MedGen:C3668940,OMIM:302045|MedGen:CN169374|MedGen:CN230736	Endocardial_fibroelastosis|Left_ventricular_noncompaction_cardiomyopathy|3-Methylglutaconic_aciduria_type_2|Dilated_cardiomyopathy_3B|not_specified|Cardiovascular_phenotype	Benign/Likely_benign	0.0066	synonymous_SNV	exonic	.	0.0068	0.0060	0.0051	-0.5