Mercurial > repos > jjohnson > snpeff
diff snpEff.xml @ 22:bb0797deab78 draft
Uploaded
| author | jjohnson |
|---|---|
| date | Wed, 09 Dec 2015 10:20:13 -0500 |
| parents | c780e3f75b3d |
| children | 924af057bbca |
line wrap: on
line diff
--- a/snpEff.xml Wed Jan 14 12:03:21 2015 -0600 +++ b/snpEff.xml Wed Dec 09 10:20:13 2015 -0500 @@ -1,22 +1,32 @@ -<tool id="snpEff" name="SnpEff" version="@WRAPPER_VERSION@.3"> +<tool id="snpEff" name="SnpEff" version="@WRAPPER_VERSION@.0"> <description>Variant effect and annotation</description> - <expand macro="requirements" /> <macros> <import>snpEff_macros.xml</import> </macros> + <expand macro="requirements" /> + <expand macro="stdio" /> + <expand macro="version_command" /> <command> <![CDATA[ - java -Xmx6G -jar \$SNPEFF_JAR_PATH/snpEff.jar eff - -c \$SNPEFF_JAR_PATH/snpEff.config + java -Xmx6G -jar \$SNPEFF_JAR_PATH/snpEff.jar eff + -c \$SNPEFF_JAR_PATH/snpEff.config -i $inputFormat -o ${outputConditional.outputFormat} -upDownStreamLen $udLength #if $spliceSiteSize and $spliceSiteSize.__str__ != '': -spliceSiteSize $spliceSiteSize #end if - #if $filterIn and $filterIn.__str__ != 'no_filter': - $filterIn + #if $spliceRegion.setSpliceRegions == 'yes': + #if $spliceRegion.spliceRegionExonSize and $spliceRegion.spliceRegionExonSize.__str__ != '': + -spliceRegionExonSize $spliceRegion.spliceRegionExonSize + #end if + #if $spliceRegion.spliceRegionIntronMin and $spliceRegion.spliceRegionIntronMin.__str__ != '': + -spliceRegionIntronMin $spliceRegion.spliceRegionIntronMin + #end if + #if $spliceRegion.spliceRegionIntronMax and $spliceRegion.spliceRegionIntronMax.__str__ != '': + -spliceRegionIntronMax $spliceRegion.spliceRegionIntronMax + #end if #end if #if $filterHomHet and $filterHomHet.__str__ != 'no_filter': - $filterHomHet + $filterHomHet #end if #if $annotations and $annotations.__str__ != '': #echo " " @@ -26,6 +36,11 @@ #echo " " #echo ' '.join($filterOut.__str__.split(',')) #end if + #if $filter.specificEffects == 'yes' and $filter.effects: + #for $eff in str($filter.effects).split(','): + -no $eff + #end for + #end if #if str( $transcripts ) != 'None': -onlyTr $transcripts #end if @@ -33,15 +48,15 @@ -interval $intervals #end if #if $statsFile: - -stats $statsFile + -stats $statsFile #end if #if $offset.__str__ != 'default': - ${offset} + ${offset} #end if #if $chr.__str__.strip() != '': - -chr "$chr" + -chr "$chr" #end if - $noLog + $noLog #if $snpDb.genomeSrc == 'cached': -dataDir ${snpDb.genomeVersion.fields.path} #if $snpDb.extra_annotations and $snpDb.extra_annotations.__str__ != '': @@ -63,7 +78,7 @@ -reg #echo ' -reg '.join($snpDb.regulation.__str__.split(','))# #end if ${snpDb.snpeff_db.metadata.genome_version} - #else + #else -download $snpDb.genome_version #end if @@ -77,7 +92,7 @@ #end if #if $outputConditional.outputFormat == 'gatk' and $outputConditional.gatk_v1 ## Replace real SnpEff version with 2.0.5 to prevent this GATK 1.x error: "The version of SnpEff used to generate the SnpEff input file (x.x) is not currently supported by the GATK. Supported versions are: [2.0.5]" - sed -i 's/^\#\#SnpEffVersion="\(\S*\s\)/\#\#SnpEffVersion="2.0.5 - real is \1/' $snpeff_output + sed -i -e 's/^\#\#SnpEffVersion="\(\S*\s\)/\#\#SnpEffVersion="2.0.5 - real is \1/' $snpeff_output #end if ]]> </command> @@ -86,8 +101,6 @@ <param name="inputFormat" type="select" label="Input format"> <option value="vcf" selected="true">VCF</option> - <option value="txt">Tabular (Deprecated)</option> - <option value="pileup">Pileup (Deprecated)</option> <option value="bed">BED (Deprecated)</option> </param> @@ -95,7 +108,6 @@ <param name="outputFormat" type="select" label="Output format"> <option value="vcf" selected="true">VCF (only if input is VCF)</option> <option value="gatk">GATK-compatible VCF (only if input is VCF)</option> - <option value="txt">Tabular</option> <option value="bed">BED</option> <option value="bedAnn">BED annotations</option> </param> @@ -103,7 +115,6 @@ <when value="gatk"> <param name="gatk_v1" type="boolean" checked="true" label="Compatible with GATK 1.x" /> </when> - <when value="txt" /> <when value="bed" /> <when value="bedAnn" /> </conditional> @@ -159,7 +170,7 @@ </param> </when> <when value="named"> - <param name="genome_version" type="text" size="40" value="" label="Snpff Genome Version Name (e.g. GRCh38.76)"> + <param name="genome_version" type="text" value="" label="Snpff Genome Version Name (e.g. GRCh38.76)"> <help>@SNPEFF_DATABASE_URL@</help> <validator type="regex" message="A genome version name is required">\S+</validator> </param> @@ -189,21 +200,25 @@ <option value="9">9 bases</option> </param> + <conditional name="spliceRegion"> + <param name="setSpliceRegions" type="select" label="spliceRegion Settings"> + <option value="no">Use Defaults</option> + <option value="yes">Set Splice Region Parameters</option> + </param> + <when value="no"/> + <when value="yes"> + <param name="spliceRegionExonSize" type="integer" value="" min="1" max="10" optional="true" label="Set size for splice site region within exons. Default: 3 bases"/> + <param name="spliceRegionIntronMin" type="integer" value="" min="1" max="10" optional="true" label="Set minimum number of bases for splice site region within intron. Default: 3 bases"/> + <param name="spliceRegionIntronMax" type="integer" value="" min="1" max="10" optional="true" label="Set maximum number of bases for splice site region within intron. Default: 8 bases"/> + </when> + </conditional> + <param name="filterHomHet" type="select" display="radio" label="Filter homozygous / heterozygous changes"> <option value="no_filter" selected="true">No filter (analyze everything)</option> <option value="-hom">Analyze homozygous sequence changes only</option> <option value="-het">Analyze heterozygous sequence changes only</option> </param> - <!-- The tool testing code can not handle select,radio,check boxes values that start with '-', so the '-' is added in the command generation --> - <param name="filterIn" type="select" display="radio" label="Filter sequence changes"> - <option value="no_filter" selected="true">No filter (analyze everything)</option> - <option value="-del">Analyze deletions only</option> - <option value="-ins">Analyze insertions only</option> - <option value="-mnp">Only MNPs (multiple nucleotide polymorphisms)</option> - <option value="-snp">Only SNPs (single nucleotide polymorphisms)</option> - </param> - <param name="annotations" type="select" display="checkboxes" multiple="true" label="Annotation options"> <option value="-cancer">Perform 'cancer' comparisons (somatic vs. germline)</option> <option value="-canon">Only use canonical transcripts</option> @@ -214,7 +229,13 @@ <option value="-classic">Use Classic Effect names and amino acid variant annotations (NON_SYNONYMOUS_CODING vs missense_variant and G180R vs p.Gly180Arg/c.538G>C)</option> <option value="-hgvs">Override classic and use HGVS annotations for amino acid annotations (p.Gly180Arg/c.538G>C vs G180R)</option> <option value="-sequenceOntology">Override classic and use Sequence Ontolgy terms for effects (missense_variant vs NON_SYNONYMOUS_CODING)</option> + <option value="-formatEff">Use 'EFF' field compatible with older versions (instead of 'ANN').</option> + <option value="-noHgvs">Do not add HGVS annotations.</option> + <option value="-noLof">Do not add LOF and NMD annotations.</option> + <option value="-noShiftHgvs">Do not shift variants according to HGVS notation (most 3prime end).</option> + <option value="-oicr">Add OICR tag in VCF file. Default: false</option> </param> + <!-- -cancerSamples <file> : Two column TXT file defining 'oringinal \t derived' samples. --> <param name="intervals" format="bed" type="data" optional="true" label="Use custom interval file for annotation"/> <param name="transcripts" format="tabular" type="data" optional="true" label="Only use the transcripts in this file." help="Format is one transcript ID per line."/> <param name="filterOut" type="select" display="checkboxes" multiple="true" label="Filter output"> @@ -224,6 +245,60 @@ <option value="-no-upstream">Do not show UPSTREAM changes</option> <option value="-no-utr">Do not show 5_PRIME_UTR or 3_PRIME_UTR changes</option> </param> + <conditional name="filter"> + <param name="specificEffects" type="select" label="Filter out specific Effects"> + <option value="no">No</option> + <option value="yes">Yes</option> + </param> + <when value="no"/> + <when value="yes"> + <param name="effects" type="select" display="checkboxes" multiple="true" label="Filter output: do not report these Effects"> + <option value="CDS">CDS (coding_sequence_variant) The variant hits a CDS. MODIFIER</option> + <option value="CHROMOSOME_LARGE_DELETION">CHROMOSOME_LARGE_DELETION (chromosome) A large parte (over 1%) of the chromosome was deleted. HIGH</option> + <option value="CODON_CHANGE">CODON_CHANGE (coding_sequence_variant) One or many codons are changed e.g.: An MNP of size multiple of 3 MODERATE</option> + <option value="CODON_INSERTION">CODON_INSERTION (inframe_insertion) One or many codons are inserted e.g.: An insert multiple of three in a codon boundary MODERATE</option> + <option value="CODON_CHANGE_PLUS CODON_INSERTION">CODON_CHANGE_PLUS CODON_INSERTION (disruptive_inframe_insertion) One codon is changed and one or many codons are inserted e.g.: An insert of size multiple of three, not at codon boundary MODERATE</option> + <option value="CODON_DELETION">CODON_DELETION (inframe_deletion) One or many codons are deleted e.g.: A deletion multiple of three at codon boundary MODERATE</option> + <option value="CODON_CHANGE_PLUS CODON_DELETION">CODON_CHANGE_PLUS CODON_DELETION (disruptive_inframe_deletion) One codon is changed and one or more codons are deleted e.g.: A deletion of size multiple of three, not at codon boundary MODERATE</option> + <option value="DOWNSTREAM">DOWNSTREAM (downstream_gene_variant) Downstream of a gene (default length: 5K bases) MODIFIER</option> + <option value="EXON">EXON (exon_variant) The variant hits an exon (from a non-coding transcript) or a retained intron. MODIFIER</option> + <option value="EXON_DELETED">EXON_DELETED (exon_loss_variant) A deletion removes the whole exon. HIGH</option> + <option value="FRAME_SHIFT">FRAME_SHIFT (frameshift_variant) Insertion or deletion causes a frame shift e.g.: An indel size is not multple of 3 HIGH</option> + <option value="GENE">GENE (gene_variant) The variant hits a gene. MODIFIER</option> + <option value="INTERGENIC">INTERGENIC (intergenic_region) The variant is in an intergenic region MODIFIER</option> + <option value="INTERGENIC_CONSERVED">INTERGENIC_CONSERVED (conserved_intergenic_variant) The variant is in a highly conserved intergenic region MODIFIER</option> + <option value="INTRAGENIC">INTRAGENIC (intragenic_variant) The variant hits a gene, but no transcripts within the gene MODIFIER</option> + <option value="INTRON">INTRON (intron_variant) Variant hits and intron. Technically, hits no exon in the transcript. MODIFIER</option> + <option value="INTRON_CONSERVED">INTRON_CONSERVED (conserved_intron_variant) The variant is in a highly conserved intronic region MODIFIER</option> + <option value="MICRO_RNA">MICRO_RNA (miRNA) Variant affects an miRNA MODIFIER</option> + <option value="NON_SYNONYMOUS_CODING">NON_SYNONYMOUS_CODING (missense_variant) Variant causes a codon that produces a different amino acid e.g.: Tgg/Cgg, W/R MODERATE</option> + <option value="NON_SYNONYMOUS_START">NON_SYNONYMOUS_START (initiator_codon_variant) Variant causes start codon to be mutated into another start codon (the new codon produces a different AA). e.g.: Atg/Ctg, M/L (ATG and CTG can be START codons) LOW</option> + <option value="NON_SYNONYMOUS_STOP">NON_SYNONYMOUS_STOP (stop_retained_variant) Variant causes stop codon to be mutated into another stop codon (the new codon produces a different AA). e.g.: Atg/Ctg, M/L (ATG and CTG can be START codons) LOW</option> + <option value="RARE_AMINO_ACID">RARE_AMINO_ACID (rare_amino_acid_variant) The variant hits a rare amino acid thus is likely to produce protein loss of function HIGH</option> + <option value="SPLICE_SITE_ACCEPTOR">SPLICE_SITE_ACCEPTOR (splice_acceptor_variant) The variant hits a splice acceptor site (defined as two bases before exon start, except for the first exon). HIGH</option> + <option value="SPLICE_SITE_DONOR">SPLICE_SITE_DONOR (splice_donor_variant) The variant hits a Splice donor site (defined as two bases after coding exon end, except for the last exon). HIGH</option> + <option value="SPLICE_SITE_REGION">SPLICE_SITE_REGION (splice_region_variant) A sequence variant in which a change has occurred within the region of the splice site, either within 1-3 bases of the exon or 3-8 bases of the intron. LOW</option> + <option value="SPLICE_SITE_BRANCH">SPLICE_SITE_BRANCH (splice_region_variant) A varaint affective putative (Lariat) branch point, located in the intron. LOW</option> + <option value="SPLICE_SITE_BRANCH_U12">SPLICE_SITE_BRANCH_U12 (splice_region_variant) A varaint affective putative (Lariat) branch point from U12 splicing machinery, located in the intron. MODERATE</option> + <option value="STOP_LOST">STOP_LOST (stop_lost) Variant causes stop codon to be mutated into a non-stop codon e.g.: Tga/Cga, */R HIGH</option> + <option value="START_GAINED">START_GAINED (5_prime_UTR_premature start_codon_gain_variant) A variant in 5'UTR region produces a three base sequence that can be a START codon. LOW</option> + <option value="START_LOST">START_LOST (start_lost) Variant causes start codon to be mutated into a non-start codon. e.g.: aTg/aGg, M/R HIGH</option> + <option value="STOP_GAINED">STOP_GAINED (stop_gained) Variant causes a STOP codon e.g.: Cag/Tag, Q/* HIGH</option> + <option value="SYNONYMOUS_CODING">SYNONYMOUS_CODING (synonymous_variant) Variant causes a codon that produces the same amino acid e.g.: Ttg/Ctg, L/L LOW</option> + <option value="SYNONYMOUS_START">SYNONYMOUS_START (start_retained) Variant causes start codon to be mutated into another start codon. e.g.: Ttg/Ctg, L/L (TTG and CTG can be START codons) LOW</option> + <option value="SYNONYMOUS_STOP">SYNONYMOUS_STOP (stop_retained_variant) Variant causes stop codon to be mutated into another stop codon. e.g.: taA/taG, */* LOW</option> + <option value="TRANSCRIPT">TRANSCRIPT (transcript_variant) The variant hits a transcript. MODIFIER</option> + <option value="REGULATION">REGULATION (regulatory_region_variant) The variant hits a known regulatory feature (non-coding). MODIFIER</option> + <option value="UPSTREAM">UPSTREAM (upstream_gene_variant) Upstream of a gene (default length: 5K bases) MODIFIER</option> + <option value="UTR_3_PRIME">UTR_3_PRIME (3_prime_UTR_variant) Variant hits 3'UTR region MODIFIER</option> + <option value="UTR_3_DELETED">UTR_3_DELETED (3_prime_UTR_truncation + exon_loss) The variant deletes an exon which is in the 3'UTR of the transcript MODERATE</option> + <option value="UTR_5_PRIME">UTR_5_PRIME (5_prime_UTR_variant) Variant hits 5'UTR region MODIFIER</option> + <option value="UTR_5_DELETED">UTR_5_DELETED (5_prime_UTR_truncation + exon_loss_variant) The variant deletes an exon which is in the 5'UTR of the transcript MODERATE</option> + <option value="NEXT_PROT">NEXT_PROT (sequence_feature + exon_loss_variant) A 'NextProt' based annotation. Details are provided in the 'feature type' sub-field (ANN), or in the effect details (EFF). MODERATE </option> + + </param> + </when> + </conditional> <param name="offset" type="select" display="radio" optional="true" label="Chromosomal position"> <option value="default" selected="true">Use default (based on input type)</option> @@ -243,7 +318,6 @@ <outputs> <data format="vcf" name="snpeff_output" > <change_format> - <when input="outputConditional.outputFormat" value="txt" format="tabular" /> <when input="outputConditional.outputFormat" value="bed" format="bed" /> <when input="outputConditional.outputFormat" value="bedAnn" format="bed" /> </change_format> @@ -252,7 +326,6 @@ <filter>generate_stats == True</filter> </data> </outputs> - <expand macro="stdio" /> <tests> <!-- Check that an effect was added in out VCF --> <!-- Check for a HTML header indicating that this was successful --> @@ -262,7 +335,7 @@ <has_text text="SnpEff: Variant analysis" /> </assert_contents> </output> - --> + --> <!-- Setting filterOut throws exception in twilltestcase.py <test> <param name="input" ftype="vcf" value="vcf_homhet.vcf"/> @@ -272,7 +345,6 @@ <param name="genome_version" value="testCase"/> <param name="udLength" value="0"/> <param name="filterHomHet" value="no_filter"/> - <param name="filterIn" value="no_filter"/> <param name="generate_stats" value="False"/> <param name="filterOut" value="+-no-upstream"/> <output name="snpeff_output"> @@ -281,7 +353,7 @@ </assert_contents> </output> </test> - --> + --> <test> <param name="input" ftype="vcf" value="vcf_homhet.vcf"/> @@ -291,7 +363,6 @@ <param name="genome_version" value="testCase"/> <param name="udLength" value="0"/> <param name="filterHomHet" value="+-het"/> - <param name="filterIn" value="no_filter"/> <!-- <param name="filterOut" value=""/> --> @@ -312,7 +383,6 @@ <param name="genome_version" value="testCase"/> <param name="udLength" value="0"/> <param name="filterHomHet" value="no_filter"/> - <param name="filterIn" value="+-del"/> <!-- <param name="filterOut" value=""/> --> @@ -337,7 +407,6 @@ <param name="genome_version" value="testCase"/> <param name="udLength" value="0"/> <param name="filterHomHet" value="no_filter"/> - <param name="filterIn" value="no_filter"/> <param name="filterOut" value="+-no-upstream"/> <param name="generate_stats" value="False"/> <output name="snpeff_output"> @@ -349,7 +418,7 @@ --> </tests> - <help> + <help><![CDATA[ This tool calculate the effect of variants (SNPs/MNPs/Insertions) and deletions. @@ -357,6 +426,7 @@ @CITATION_SECTION@ +]]> </help> <expand macro="citations" /> </tool>
